CHARGE syndrome [Second ed.] 9781635506570, 1635506573

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Hartshorne d ion

charge sy ndrome second edition Timothy S. Hartshorne Margaret A. Hefner Kim D. Blake

CHARGE Syndrome Second Edition

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Genetic Syndromes and Communication Disorders Series Editor Robert J. Shprintzen, Ph.D. Educating Children with Velo-Cardio-Facial Syndrome, 22q11.2 Deletion Syndrome, and DiGeorge Syndrome, Third Edition Donna Cutler-Landsman Velo-Cardio-Facial Syndrome, Volume 2: Treatment of Communication Disorders Karen J. Golding-Kushner, Ph.D. and Robert J. Shprintzen, Ph.D. CHARGE Syndrome Timothy S. Hartshorne, Ph.D., Margaret A. Hefner, MS, Sandra L. H. Davenport, M.D., CM, and James W. Thelin, Ph.D. Velo-Cardio-Facial Syndrome, Volume 1 Robert J. Shprintzen, Ph.D. and Karen J. Golding-Kushner, Ph.D. Medical Genetics: Its Application to Speech, Hearing, and Craniofacial Disorders Nathaniel H. Robin, M.D., FAAP, FABMG Waardenburg Syndrome Alice Kahn, Ph.D.

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CHARGE Syndrome Second Edition

Timothy S. Hartshorne, PhD Margaret A. Hefner, MS Kim D. Blake, MD

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5521 Ruffin Road San Diego, CA 92123 e-mail: [email protected] Web site: https://www.pluralpublishing.com Copyright © 2021 by Plural Publishing, Inc. Typeset in 11/13 ITC Garamond by Achorn International Printed in the United States of America by Integrated Books International All rights, including that of translation, reserved. No part of this publication may be reproduced, stored in a retrieval system, or transmitted in any form or by any means, electronic, mechanical, recording, or otherwise, including photocopying, recording, taping, Web distribution, or information storage and retrieval systems without the prior written consent of the publisher. For permission to use material from this text, contact us by Telephone: (866) 758-7251 Fax: (888) 758-7255 e-mail: [email protected] Every attempt has been made to contact the copyright holders for material originally printed in another source. If any have been inadvertently overlooked, the publisher will gladly make the necessary arrangements at the first opportunity. Disclaimer: Please note that ancillary content (such as documents, audio, and video, etc.) may not be included as published in the original print version of this book. Library of Congress Cataloging-in-Publication Data Names: Hartshorne, Timothy S., editor. | Hefner, Margaret A., editor. | Blake, Kim (Kim D.), editor. Title: CHARGE syndrome / [edited by] Timothy S. Hartshorne, Margaret A. Hefner, Kim Blake. Other titles: Genetic syndromes and communication disorders series. Description: Second edition. | San Diego, CA : Plural Publishing, Inc., [2021] | Series: Genetic syndromes and communication disorders | Includes bibliographical references and index. Identifiers: LCCN 2020040067 | ISBN 9781635502909 (paperback) | ISBN 9781635506570 (ebook) Subjects: MESH: CHARGE Syndrome—complications | CHARGE Syndrome—psychology | Communication Disorders—etiology | Sensation Disorders—etiology Classification: LCC RB155.5 | NLM QS 675 | DDC 616/.042—dc23 LC record available at https://lccn.loc.gov/2020040067

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Contents Foreword ix by Daniel I. Choo Introduction to CHARGE Syndrome xi by Margaret A. Hefner Acknowledgments xvii Contributors xix Part I. Sensory Issues in CHARGE Syndrome

1

Overview and Sensory Issues Margaret A. Hefner and Sandra L. H. Davenport

3



2



3 Hearing

33

4

Smell: The Olfactory System Véronique Abadie

57

Overview of Balance and the Vestibular System Claes Möller

65

Understanding the Tactile System Jude Nicholas

77

The Eye and Vision Eniolami O. Dosunmu

15

Sarah E. Curtis and Michael P. Scott



5 6 7



Consequences of Vestibular and Proprioceptive Dysfunction 87 David M. Brown

Part II. Medical Issues in CHARGE Syndrome

8 9

Otologic Issues Daniel I. Choo

101

Airway Obstruction Catherine K. Hart and Christine H. Heubi

123

v

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vi     CHARGE SYNDROME

10

Gastrointestinal Dysfunction Alexandra S. Hudson and Kim D. Blake

143

11 Neurodevelopment

159

12

Cardiovascular System Karthik Thangappan, Alexander Hatton, and David Luís Simóne Morales

175

Renal and Urinary Systems Michael Daugherty and Pramod P. Reddy

187

Endocrine System Jeremy M. W. Kirk and Meilan M. Rutter

195

Immune System Peter Hsu, Sam Mehr, and Dianne E. Campbell

209

Musculoskeletal System Marc S. Williams

217

Adult Medical Issues Susan Wiley

231



13

14

15

16

17

Kim D. Blake and Elizabeth E. Gilles

Part III. Developmental Issues in CHARGE Syndrome

18

19

20

Cognitive Development Nancy Salem-Hartshorne

253

Social/Emotional Development Megan C. Schmittel

261

Promoting Motor Development Pamela Haibach-Beach, Melanie E. Perreault, and Lauren J. Lieberman

267

21 Toileting

277

Laurie S. Denno

22

23

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Sleep 285 Benjamin Kennert and Dominique Pancotto Changes Over the Life Cycle Nancy Salem-Hartshorne, Megan C. Schmittel, Kasee K. Stratton, and Sandra L. H. Davenport

293

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CONTENTS     vii

Part IV. Language Development and Communication Systems in CHARGE Syndrome

24

25

26

Communication: The Speech and Language Perspective Lori A. Swanson

329

Prelinguistic Communication Susan M. Bashinski

353

Forms and Functions in Communication Emily King Miller, Lori A. Swanson, Nancy K. Steele, Sara J. Thelin, and James W. Thelin

391

Part V. Psychological Issues in CHARGE Syndrome

27 Behavior

413

28

425



Timothy S. Hartshorne

Psychiatric Susan Wiley

29 Pain

439

30 Stress

449

31 Parenting

455

32

465



Kasee K. Stratton



Kasee K. Stratton



Timothy S. Hartshorne

Educational Issues Lillian J. Slavin

Appendix: Checklists 481 Index 501

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Foreword T

 his second edition of CHARGE Syndrome offers a significantly expanded and contemporary compilation of information on CHARGE syndrome (CS) and its protean manifestations and management issues. For early interventionists, health care providers, educators, families, and advocates of those impacted by CS, this textbook provides a tremendous foundation upon which to begin building a working understanding of the breadth and scope of challenges and opportunities presented by CS. Since the first edition’s publication in 2011, the interest in CHARGE and research on this syndrome have increased exponentially. As one result, this second edition incorporates expanded clinical content that covers the multiple organ systems and conditions that are associated with CS. The rapidly growing and evolving knowledge base about the clinical and developmental features of CS and the optimal management of specific conditions are presented in each of the chapters by clinicians with tremendous firsthand experience and unique expertise. This valuable content is enhanced and refined by editorial oversight and contributions by three of the world-renowned experts on CHARGE (Tim Hartshorne, Meg Hefner, and Kim Blake). Their combined decades of research and work on CS have provided an outstanding perspective in editing this work. Their high-level editorial supervision has kept the authors tightly focused on CHARGE-related content, kept the material relevant to potential readership, and ensured the highest levels of validity and accuracy. Taken as a whole, this second edition of CHARGE Syndrome offers a unique and superb foundational textbook on CHARGE. Whether the reader’s background is academic, clinical, educational, research, or other domain, the content is readable at many levels, inclusive by means of its diverse chapters, and allows the reader to begin exploring and understanding the complexities of CS. Daniel I. Choo, MD Director, Division of Pediatric Otolaryngology— Head and Neck Surgery Professor, UC Department of Pediatrics UC Department of Otolaryngology—Head and Neck Surgery Cincinnati Children’s Hospital Medical Center Cincinnati, Ohio ix

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Introduction to CHARGE Syndrome

C

“

ommunication, communication, communication.” For more than 30 years, this has been the mantra regarding what children with CHARGE syndrome (CS) need. CS is a very complex syndrome encompassing a wide variety of medical, developmental, and personality traits. Many children struggle just to survive. However, the biggest barrier to ultimate success for individuals with CS is communication. Children who are able to establish abstract communication in childhood ultimately do far better than those who do not. The barriers to communication are extensive, including life-threatening medical issues; decreased hearing, vision, and balance; difficulty handling secretions and moving the face; and an educational system that is ill prepared to meet the childrens’ diverse needs. Each individual with CHARGE has a unique set of features, making generalizations difficult and not very useful. There is no “average” or “typical” child with CS. There are, however, many similarities between cases. Experienced observers have learned a lot about individuals with CS and have developed ways to assess the strengths and the weaknesses of each child. It is necessary to understand the world of the child—how each child experiences and interacts with their environment—to be able to implement therapies and set up environments that will be conducive to the establishment of effective communication systems.

Where Did the Name CHARGE Come From? The “CHARGE” acronym was coined in 1981 using some of the features recognized in many of the children described: C = coloboma of the eye, H = heart defects, A = atresia of the choanae, R = restriction of growth and development, G = genitourinary abnormalities, E = ear anomalies and hearing xi

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xii     CHARGE SYNDROME

loss (Pagon, Graham, Zonana, & Yong, 1981). Even in 1981, it was recognized that the acronym did not encompass all of the recognized features or even perhaps some of the most important features (e.g., cranial nerve anomalies). The acronym features should never be used for diagnosis or even to describe the syndrome.

How Is CHARGE Diagnosed? History Since the first description in 1981 by Pagon et al., there have been numerous revisions of the clinical diagnostic criteria for CHARGE, most notably in 1998 by Blake et al. and in 2007 by Sanlaville and Verloes. Vissers et al. (2004) were the first to identify pathogenic variants (mutations) in a single gene (CHD7 ) as a cause of CHARGE syndrome, confirming the genetic basis of the syndrome. However, not all CHD7 variants cause CS, and a significant number of individuals with CS (~10%) do not appear to have identifiable CHD7 variants. Therefore, although CHD7 sequencing is extremely helpful (and always recommended), the diagnosis of CHARGE syndrome remains a clinical diagnosis—based on the combination of genetic, medical, and developmental characteristics. The field of medical genetics is in a state of extremely rapid evolution—we are only just beginning to understand the complexity of interactions between multiple genes and the environment, which come together to create a “syndrome.” Suffice to say, there may be many avenues to arrive at “CHARGE syndrome” other than pathogenic variants in the CHD7 gene. Diagnostic Criteria The diagnosis of CHARGE syndrome should always be made by a medical geneticist, preferably one who is familiar with CS. Tables 0–1 and 0–2 illustrate one current version of the major and minor clinical diagnostic criteria for CS, with the approximate percentage of people with CS who have each feature. The criteria for clinical diagnosis of definite/typical CS require the presence of at least two (preferably three) major features and several minor features. Individuals with fewer features may be diagnosed as atypical CS or CHARGE-like. It is important to note that there is no single cardinal feature of CHARGE among affected individuals. Every characteristic ranges from absent to present and, when present, can vary from mild to severe. The most common features are the inner ear malformations, particularly hearing loss and vestibular abnormalities. Features notable on brain imaging may also be extremely common in individuals with CS but may not be routinely investigated (de Geus et al., 2017). Detailed reviews of many issues related to CS, including diagnostic criteria, how CHD7 affects the developing embryo, and genetic counseling, can be found in the December 2017 issue of the American Journal of Medical

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INTRODUCTION TO CHARGE SYNDROME     xiii Table 0–1.  Major Diagnostic Characteristics of CHARGE Syndrome Characteristic

Manifestations

Frequency

Coloboma of the eye

Coloboma of the iris, retina, choroid, disc; microphthalmos

80%–90%

Choanal atresia or stenosis1,2

Unilateral/bilateral: bony/membranous, atresia/stenosis

50%–60%

Cranial nerve dysfunction or anomaly

I: Hyposmia or anosmia/arhinencephaly

80%–90%

VII: Facial palsy (unilateral or bilateral)

40%–50%

VIII: Hypoplasia of auditory nerve

>80%

IX/X: Swallowing problems with aspiration and gut motility issues.

70%–80%

Characteristic CHARGE outer ear3

Short, wide ear with little or no lobe, “snipped off” helix, prominent antihelix that is often discontinuous with tragus, triangular concha, decreased cartilage, often protruding, usually asymmetric

80%–90%

Characteristic CHARGE middle or inner ear

Ossicular malformations

>80%

Abnormal cochlea

>80%

Absent or hypoplastic semicircular canals

>95%

1

Choanae are passages in the back of the nose that are blocked (atretic) or narrowed (stenotic). 2 Cleft palate may substitute for this characteristic in some cases. 3 See Figure 8–4.

Genetics, Part C, devoted entirely to CHARGE syndrome and summarized in the article by van Ravenswaaij-Arts and Martin (2017). As many of the diagnostic features of CS (as well as additional “occasional findings”) have an impact on language and other developmental skills, they are discussed in detail in this volume. From a practical standpoint, the information in this volume should be extremely useful to anyone caring for an individual with typical CHARGE syndrome, atypical CHARGE, or who pre­­ sents as “CHARGE-like.” Development and Communication in CHARGE Syndrome Over 90% of individuals with CHARGE have both vision loss and hearing loss (classified as deafblindness), and most also have vestibular (balance) abnormalities that further inhibit and delay development. Most spend the first two

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xiv     CHARGE SYNDROME Table 0–2.  Minor Diagnostic Characteristics of CHARGE Syndrome Characteristic

Manifestations

Genital hypoplasia

Males: Micropenis, cryptorchidism Females: Hypoplastic labia

Frequency 50%

Both: Delayed puberty

>50%, 90% in males

Cardiovascular malformation

Especially conotruncal defects (e.g., tetralogy of Fallot), aortic arch anomalies

75%–85%

Growth deficiency

Short stature Growth hormone deficiency

Orofacial cleft

Cleft lip and/or palate

20%–40%

Tracheoesophageal (T-E) fistula

T-E defects of all types

15%–25%

Renal anomalies

Ectopic or solitary or duplex kidney, uteropelvic junction obstruction, reflux, hydronephrosis

30%–40%

Distinctive facial features

Square face with broad prominent forehead, prominent nasal bridge and columella, flat midface, small chin that gets larger with age

70%–80%

Palmar crease

Hockey-stick palmar crease

CHARGE behavioral profile

Obsessive-compulsive disorder or other perseverative behavior

70% 15%

50% >50%

to three years of life in and out of hospitals and clinics because of surgeries and airway-, heart-, and feeding-related problems. Since medical issues can have a profound impact on growth and development, the medical section in this volume provides detailed descriptions and references for each affected system. Because the focus in early childhood is typically on overcoming lifethreatening medical challenges, scant attention is often paid to development and communication. However, the establishment of an adequate communication system is crucial to learning and to living a meaningful life. Research on hearing impairment demonstrates that some mode of communication needs to be established in the first few months of life for development of symbolic language ( Vohr et al., 2008). Due to the complexities of cochlear malformations, tracheostomies preventing verbal output, along with visual

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INTRODUCTION TO CHARGE SYNDROME     xv

impairment, standard speech therapy and sign language methods need to be modified. Despite best efforts, some of these children may never attain easily recognizable verbal speech. Creative approaches utilizing all available modes of communication are often required. It is important to understand, however, that all behavior is communication. Families and professionals should document and shape behavior while still striving for a formal communication system.

ORGANIZATION OF THIS VOLUME CHARGE syndrome may be the only disorder that presents with deficits of all of the senses (Part I). These deficits alone make many aspects of life challenging. However, the greater issue is the combined consequences of multiple sensory issues superimposed on a distinctive constellation of medical and physiologic disorders (Part II) that give rise to a unique course of individual development (Part III) and result in restricted forms of uncommon communication (Part IV ). The sum of the individual challenges governs the resulting patterns of behavior, as well as factors that are critical to take into account in parenting, education, and developing appropriate social interaction (Part V ). The purpose of this volume is to provide allied health professionals (as well as families and educators) a comprehensive picture of the sensory, physical, and psychological issues that challenge children with CHARGE and to explore a variety of ways to overcome the challenges in assessment of each involved organ system and of the child as a whole. In spite of our goal of making each chapter reader friendly, there is a lot of technical information that we believe is critical to include for those professionals who are deeply involved with particular issues. We hope that each reader will find that the information most critical to their work with individuals with CS is readily accessible in these chapters. CHARGE syndrome is highly complex, highly variable, and has a profound impact on those with the syndrome, their families, and those who interact with them. It is our hope that this volume will be a valuable tool in working towards the goals of understanding the multiple interconnected challenges that CHARGE syndrome presents and in maximizing all aspects of development. Margaret A. Hefner, MS

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xvi     CHARGE SYNDROME

REFERENCES Blake, K. D., Davenport, S. L., Hall, B. D., Hefner, M. A., Pagon, R. A., Williams, M. S., . . . Graham Jr, J. M. (1998). CHARGE association: An update and review for the primary pediatrician. Clinical Pediatrics, 37(3), 159–174. de Geus, C. M., Free, R. H., Verbist, B. M., Sival, D. A., Blake, K. D., Meiners, L. C., & van Ravenswaaij-Arts, C. M. A. (2017). Guidelines in CHARGE syndrome and the missing link: Cranial imaging. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(4), 450–464. Pagon, R. A., Graham Jr, J. M., Zonana, J., & Yong, S. L. (1981). Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. Journal of Pediatrics, 99(2), 223–227. Sanlaville, D., & Verloes, A. (2007). CHARGE syndrome: An update. European Journal of Human Genetics, 15(4), 389–399. van Ravenswaaij-Arts, C., & Martin, D. M. (2017). New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(4), 387–406. Vissers, L. E., van Ravenswaaij, C. M. A., Admiraal, R., Hurst, J. A., de Vries, B. B., Janssen, I. M., . . . van Kessel, A. G. (2004). Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nature Genetics, 36(9), 955–957. Vohr, B., Jodoin-Krauzyk, J., Tucker, R., Johnson, M. J., Topol, D., & Ahlgren, M. (2008). Early language outcomes of early-identified infants with permanent hearing loss at 12 to 16 months of age. Pediatrics, 122(3), 535–544.

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Acknowledgments T

he editors thank all of the families and the children and adults with CHARGE syndrome who have taught us much of what we know and helped us focus on what further questions need to be addressed. A special thanks to the adults with CS who updated their stories for this edition (Chapter 23). We express our appreciation to Sandra Davenport and James Thelin, coeditors of the first edition of this book, who are happily retired but whose work is nevertheless reflected in several chapters, and in fact throughout the book. We are very appreciative of Daniel Choo, co-director of the CHARGE Center at Cincinnati Children’s Hospital Medical Center, who provided the foreword to this edition as well as one of the chapters. Dan was working as a co-editor on this edition, but the advent of COVID-19 made completing that task impossible. However, he was able to persuade many of his colleagues at Cincinnati Children’s to write chapters for this edition. We would also like to acknowledge our chapter authors: they represent some of the top specialists in many fields who understand CHARGE, and in spite of complicated schedules and commitments (and COVID-19), they nevertheless contributed outstanding information to this volume. Two other individuals provided support to this process and deserve specific recognition. Sarah Sykes, a doctoral student in the CHARGE research lab at Central Michigan University, assisted with references and lists. This book would have struggled for many more months without the assistance of Natalie Noble, also a member of the CHARGE lab at Central Michigan. Natalie read every chapter, provided polish editing, checked every reference, and formatted all of the chapters, boxes, and tables. We are deeply appreciative. The support from Plural Publishing, particularly Christina Gunning, was outstanding. The first editor would also like to express his appreciation to his son, Jacob Hartshorne, who has CHARGE and has been the inspiration for his father’s work. This book is dedicated to the families who have the urgent need for information to help their children with CHARGE syndrome and to the professionals who make the special effort to understand this rare syndrome.

xvii

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Contributors

Véronique Abadie, MD, PhD Head of the General Pediatrics Unit Necker Hospital Professor of Pediatrics Paris Descartes University

Paris, France Chapter 4 Susan M. Bashinski, EdD Professor of Special Education Interim Dean of the Graduate School Missouri Western State University Saint Joseph, Missouri Chapter 25 Kim D. Blake, MD, MRCP, FRCPC Professor, Medicine  Department of Pediatrics, IWK Health Centre Dalhousie University Halifax, Nova Scotia, Canada Chapters 10 and 11 David M. Brown, MA, DSc (Hon) Consultant Teacher of the Deafblind Emeritus Educational Specialist California Deafblind Services San Francisco State University San Francisco, California Chapter 7 Dianne E. Campbell, MD, PhD Department of Allergy and Immunology Children’s Hospital at Westmead xix

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xx     CHARGE SYNDROME

Discipline of Paediatrics and Child Health University of Sydney Sydney, Australia Chapter 15 Daniel I. Choo, MD Director, Division of Pediatric Otolaryngology—Head and Neck Surgery Professor, UC Department of Pediatrics UC Department of Otolaryngology—Head and Neck Surgery Cincinnati Children’s Hospital Medical Center Cincinnati, Ohio Chapter 8 Sarah E. Curtis, AuD, ABA-C Doctor of Audiology Practice Owner Sounds of Life Hearing Center, LLC Concord Township, Ohio Chapter 3 Michael Daugherty, MD Assistant Professor Division of Pediatric Urology Cincinnati Children’s Hospital Medical Center Cincinnati, Ohio Chapter 13 Sandra L. H. Davenport, MD Clinical Genetics and Pediatrics Sensory Genetics/Neurodevelopment Bloomington, Minnesota Chapters 1 and 23 Laurie S. Denno, PhD, BCBA-D Behavior Analyst Behavior and Learning Consultation Vineyard Haven, Massachusetts Chapter 21 Eniolami O. Dosunmu, MD, FAAP Assistant Professor of Ophthalmology Abrahamson Pediatric Eye Institute Cincinnati Children’s Hospital Medical Center Department of Ophthalmology

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CONTRIBUTORS     xxi

University of Cincinnati Cincinnati, Ohio Chapter 2 Elizabeth E. Gilles, MD Child Neurology Solutions, PLLC Saint Paul, Minnesota Chapter 11 Pamela Haibach-Beach, PhD Professor of Motor Behavior Associate Director of the Honors College Co-Director of the Institute of Movement Studies for Individuals with Visual Impairments and Deafblindness State University of New York College at Brockport Brockport, New York Chapter 20 Catherine K. Hart, MD, MS Assistant Professor Pediatric Otolaryngology Cincinnati Children’s Hospital Medical Center University of Cincinnati College of Medicine Cincinnati, Ohio Chapter 9 Timothy S. Hartshorne, PhD Professor of Psychology Central Michigan University Mount Pleasant, Michigan Chapters 27 and 31 Alexander Hatton Co-Op Student Cincinnati Children’s Hospital Medical Center Department of Cardiovascular Surgery Cincinnati, Ohio Chapter 12 Margaret A. Hefner, MS Genetic Counselor Division of Medical Genetics Department of Pediatrics Saint Louis University School of Medicine

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xxii     CHARGE SYNDROME

St. Louis, Missouri Introduction and Chapter 1 Christine H. Heubi, MD Assistant Professor Pediatric Otolaryngology Head and Neck Surgery ABOTO-Certified in Sleep Medicine Cincinnati Children’s Hospital Medical Center Cincinnati, Ohio Chapter 9 Peter Hsu, MBBS, FRACP, PhD Department of Allergy and Immunology Kids Research The Children’s Hospital at Westmead Discipline of Adolescent and Child Health The University of Sydney Sydney, Australia Chapter 15 Alexandra S. Hudson, MD Resident Physician University of Alberta Edmonton, Canada Chapter 10 Benjamin Kennert, PhD Central Michigan University Mount Pleasant, Michigan Chapter 22 Jeremy M. W. Kirk, MD, FRCP, FRCPCH Professor Department of Pediatric Endocrinology Birmingham Children’s Hospital Birmingham, United Kingdom Chapter 14 Lauren J. Lieberman, PhD Distinguished Service Professor Kinesiology, Sport Studies, and Physical Education Department State University of New York at Brockport Co-Director The Institute on Movement Studies for Individuals with Visual Impairment or Deafblindness Founder and Director

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CONTRIBUTORS     xxiii

Camp Abilities Brockport, New York Chapter 20 Sam Mehr, MD Department of Allergy and Immunology Royal Children’s Hospital Parkville, Australia Chapter 15 Emily King Miller, MA, CCC-SLP Clinical Team Leader Speech Language Pathology Blount Memorial Total Rehabilitation Pediatrics Alcoa, Tennessee Chapter 26 Claes Möller, MD, PhD Professor in Audiology and Disability Science Örebro University/Örebro University Hospital Örebro, Sweden Chapter 5 David Luís Simóne Morales, MD Professor of Pediatrics and Surgery Clark-Helmsworth Chair Director, Congenital Heart Surgery—Heart Institute Cincinnati Children’s Hospital Medical Center Cincinnati, Ohio Chapter 12 Jude Nicholas, PsyD Consultant Clinical Neuropsychologist Haukeland University Hospital Statped Center for Special Needs Education Bergen, Norway Chapter 6 Dominique Pancotto, MS Board Certified Behavior Analyst Capella University Minneapolis, Minnesota Chapter 22

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xxiv     CHARGE SYNDROME

Melanie E. Perreault, PhD Associate Professor of Motor Behavior Department of Kinesiology, Sport Studies, and Physical Education State University of New York at Brockport Communications Director Institute of Movement Studies for Individuals with Visual Impairments Brockport, New York Chapter 20 Pramod P. Reddy, MD Director Division of Pediatric Urology Professor of Surgery Cincinnati Children’s Hospital Medical Center The University of Cincinnati, College of Medicine Cincinnati, Ohio Chapter 13 Meilan M. Rutter, MD, BCh, FRACP Associate Professor of Pediatrics Division of Endocrinology Cincinnati Children’s Hospital Medical Center University of Cincinnati College of Medicine Cincinnati, Ohio

Chapter 14 Nancy Salem-Hartshorne, PhD, NCSP Professor of Psychology Delta College University Center, Michigan Chapters 18 and 23 Megan C. Schmittel, MS School Psychologist Perkins School for the Blind, Deafblind Program PhD Candidate Central Michigan University Member of the Central Michigan University CHARGE Syndrome Research Lab Mount Pleasant, Michigan Chapters 19 and 23 Michael P. Scott, AuD, CCC-A Clinical Research Auditory Implant Program Coordinator Cincinnati Children’s Hospital Medical Center, Division of Audiology

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CONTRIBUTORS     xxv

University of Cincinnati, Communication Sciences and Disorders Cincinnati, Ohio Chapter 3 Lillian J. Slavin, MA, TLLP School Psychology Doctoral Candidate Central Michigan University Mount Pleasant, Michigan Chapter 32 Nancy K. Steele, MEd Educational Consultant Maryville, Tennessee Chapter 26 Kasee K. Stratton, PhD, NCSP, LP Associate Professor and Director TK Martin Center for Technology and Disability Bulldog CHARGE Syndrome Research Lab College of Education Mississippi State University Mississippi State, Mississippi Chapters 23, 29, and 30 Lori A. Swanson, PhD, CCC-SLP Professor of Communication Sciences and Disorders Department of Communication Sciences and Disorders University of Wisconsin—River Falls River Falls, Wisconsin Chapters 24 and 26 Karthik Thangappan, MD University of Cincinnati Medical Center General Surgery Resident, PGY-3 Congenital Heart Surgery Research Fellow Cincinnati Children’s Hospital Medical Center Department of Cardiovascular Surgery Cincinnati, Ohio Chapter 12 James W. Thelin, PhD Associate Professor Emeritus Department of Audiology and Speech Pathology University of Tennessee—Knoxville Knoxville, Tennessee Chapter 26

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Sara J. Thelin, MA CCC-SLP Speech-Language Pathologist (Retired) Knoxville, Tennessee Chapter 26 Susan Wiley, MD Developmental and Behavioral Pediatrics Cincinnati Children’s Hospital Medical Center Professor of Pediatrics University of Cincinnati Cincinnati, Ohio Chapters 17 and 28 Marc S. Williams, MD, FAAP, FACMG, FACMI Professor and Director Emeritus Genomic Medicine Institute Geisinger Danville, Pennsylvania Chapter 16

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PART I

Sensory Issues in CHARGE Syndrome

C

HARGE syndrome (CS) has features that overlap with a multitude of other genetic conditions. However, the multisensory impairment associated with CS makes it unique. Among genetic conditions, CS is the leading cause of con­ genital deafblindness (dual-sensory impairment). Individuals with CS can have disturbances not only in hearing and vision, but in all seven senses (hearing, vision, smell, taste, touch, proprioception, and inner ear balance). The impact of multisensory impairment is not additive, but multiplicative. First and fore­ most, understanding CS requires an understanding of sensory impairment.

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CHAPTER 1

Overview and Sensory Issues MARGARET A. HEFNER AND SANDRA L. H. DAVENPORT

INTRODUCTION Humans have receptors for five “input” senses which allow access to external stimuli, namely, vision, hearing, smell, taste, and touch (including cold/hot, smooth/rough, light touch, two-point discrimination, tickle, itch, vibration, pressure, pain, and more). In addition, the body has other receptors that allow the body to recognize its position in space and in relation to itself, namely vestibular and proprioceptive senses. In CHARGE syndrome (CS), all of these senses may be affected. Vision, hearing, smell, and balance are all affected in most individuals with CHARGE. This means that children with CS may not see you unless you are at a specific distance and in their visual field, or they may see only parts of you and not see you as a person. These children may not hear your natural voice, or they may not hear you at all. They may not smell properly, hindering their ability to identify food, perfumes, or other common odors, and they may not have enough balance to attain normal motor milestones. These children are input impaired—the information they are receiving from the outside world is often absent and/or distorted. Most children with CHARGE do not have significant abnormalities on brain imaging studies and, therefore, must be presumed to have normal brain 3

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function until proven otherwise. Before a child with CS can be said to have anything other than normal intelligence, they must have been relatively healthy and have been in settings with appropriate adaptations to address their multiple sensory issues for a number of years. Appropriate adaptations are not obvious. Most adaptations for people who are hearing impaired use visual enforcers. However, a visually impaired individual who also has hearing loss may not see or understand these enforcers. Likewise, most adaptations for visually impaired individuals are auditory and are completely lost to those who are hearing impaired in addition to visually impaired. Dual sensory loss (deafblindness) requires unique adaptations (see “Definition of Deafblindness” below). Hearing, vision, and smell are the primary “distance” senses. In other words, sounds, sights, and smells orient a person to their setting and alert one to the approach or presence of a person, animal, or other object. If all three distance senses are decreased or absent, the person with CS may not be aware of someone who is present until physical contact is made. This can be both startling and frightening, leading one to being “jumpy” and sometimes having significant tactile and oral aversions. Incidental learning, including most “socially appropriate behavior,” which typical

Definition of Deaf blindness In the United States, “deafblindness” is an educational term used when determining eligibility for specific services. One might assume defining deafblindness is straightforward (i.e., no hearing, no vision), but that is not the case. Most children classified as “deafblind” have at least some usable hearing and/or some usable vision. There are actually many definitions, and while most U.S. states have a definition, they are not all identical. Although all states indicate that deafblindness involves both hearing and vision impairment, some specify the degree of impairment that must exist, whereas others allow “functional” definitions. Some state deafblind projects automatically serve children with CHARGE, while others require that the child have specific vision and auditory losses before they may receive services. The U.S. federal definition of deafblindness is as follows: Deafblindness means concomitant hearing and vision impairments, the combination of which causes such severe communication and other developmental and educational needs that they cannot be accommodated in special education programs solely for children with deafness or children with blindness [34 CFR 300.8 (c) (2)].

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1.  Overview and Sensory Issues       5

The U.S. Code, Title 29-Labor, Chapter 21-Sec. 1905 also has a definition, established when funding was authorized for the Helen Keller National Center: (2)  the term ‘‘individual who is deaf-blind’’ means any individual— (A) (i) who has a central visual acuity of 20/200 or less in the better eye with corrective lenses, or a field defect such that the peripheral diameter of visual field subtends an angular distance no greater than 20 degrees, or a progressive visual loss having a prognosis leading to one or both these conditions; (A) (ii) who has a chronic hearing impairment so severe that most speech cannot be understood with optimum amplification, or a progressive hearing loss having a prognosis leading to this condition; and (A) (iii) for whom the combination of impairments described in clauses (i) and (ii) cause extreme difficulty in attaining independence in daily life activities, achieving psychosocial adjustment, or obtaining a vocation; (B) who despite the inability to be measured accurately for hearing and vision loss due to cognitive or behavioral constraints, or both, can be determined through functional and performance assessment to have severe hearing and visual disabilities that cause extreme difficulty in attaining independence in daily life activities, achieving psychosocial adjustment, or obtaining vocational objectives; or (C) meets such other requirements as the Secretary may prescribe by regulation.

children achieve by observing those in their environment, will not happen without specific instruction. While hearing impairment leads primarily to delayed language acquisition, vision impairment combined with vestibular dysfunction leads to delayed motor milestones. Hartshorne et al. (2007) reported that crawling in children with CHARGE occurred on average at 1 year, 8 months (range: 70 dB), bilateral, and often asymmetric (different in the two ears) (Thelin, Mitchell, Hefner, & Davenport, 1986). Ossicular repair or reconstruction, particularly correction of stapes fixation (stapedectomy or stapedotomy), is not commonly performed, as there may be a significant risk of damaging the inner ear by causing a leak of endolymphatic fluid through the oval window. This can lead to deafness in that ear. Eustachian tube dysfunction can also result in conductive hearing loss: if the eustachian tube fails to ventilate the middle ear cavity properly and swells shut, a vacuum forms in the middle ear. This can result in effusion as fluid is pulled from the surrounding tissue. If agents such as bacteria, fungi, or viruses are present, infection can develop. These losses can progress or fluctuate with the status of that middle ear disease. If there is a fluctuating conductive loss, regular assessment of hearing and middle ear function may be necessary for monitoring. Surgical insertion of ventilation tubes (PE tubes, grommets) is sometimes considered (see Chapter 8). CHL from fluid accumulation can be in addition to that caused by ossicular dysfunction, resulting in an unusually large conductive hearing loss that is rarely seen by audiologists and physicians. Many individuals with CHARGE have chronic middle ear disease that results in drainage through their tube and/or perforation into the ear canal. If air conduction hearing aids are worn, drainage may cause the hearing aid earmolds to clog, preventing the sound from reaching the ear. In some cases, earmolds may cause drainage to stay in the ear canals and promote growth of infection. The inner ear is nearly always affected in CHARGE. The inner ear is the innermost part of the ear and houses the vestibulocochlear organs, the semicircular canals, and cochlea (F and G in Figure 3–1). These sense organs are lined with hair cell structures, which are stimulated by sounds waves (auditory) or changes in body and head position (vestibular). The cells stimulate cranial nerve VIII (H and I in Figure 3–1), which carries the nerve signals to the brain. Cranial nerve VIII has auditory and vestibular portions. The primary auditory organ is the cochlea (inner ear) (G in Figure 3–1). The vestibular organs include the three semicircular canals (F in Figure 3–1), which detect angular movement, and the utricle and saccule, which detect linear movement. The semicircular canals are also linked through neural pathways in the brainstem to the eyes to form the vestibulo-ocular reflex (  VOR) arc, which stabilizes visual images while the head is in motion (like a steady-cam on a video camera). The semicircular canals are nearly universally malformed or absent in individuals with CS (see Chapters 5 and 7).

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Figure 3–1. Conductive and sensorineural hearing loss. Adapted from Shutterstock® image. All rights reserved.

In CHARGE, it is common for the bony labyrinth to be underdeveloped, reducing the number of available structures for sensing sound and head motion (Morimoto et al., 2006). The snail shell-shaped cochlea may have fewer turns than normal (Mondini defect is a common form of this anomaly), and in nearly every individual with CS, the semicircular canals are significantly malformed or absent (Morimoto et al., 2006; Satar, Mukherji, & Telian, 2003). The number of hair cell sensory structures may be greatly reduced. In a vast majority of individuals with CS, there is significant cochlear hearing loss (also called sensorineural hearing loss), and the VOR (vestibulo-ocular reflex) is absent. Cranial nerve VIII (H and I in Figure 3–1) is composed of auditory and vestibular sections. The nerves accept coded messages from the auditory and vestibular sensory structures and transmit them to the brainstem and then to the brain. They depart the bony labyrinth through a narrow, bony channel—the internal auditory canal—and are near cranial nerve VII (the facial nerve). In individuals with CHARGE, it is possible that the internal auditory canal (IAC) can be stenotic (narrow) or atretic (closed), which can restrict

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transmission of information to and/or from the ear or, in cases of atresia, not allow the nerve to connect to the cochlea. The auditory and vestibular nerves may be reduced in size or absent even when the IAC is normal (Bamiou, Worth, Phelps, Simimanna, & Rajput, 2001). The auditory nerve divides and sends neural tracts to both sides of the brainstem and both hemispheres of the cortex. At the cortical level, information can travel from the auditory cortex in one hemisphere to the other hemisphere via a crossing fiber tract called the corpus callosum. Abnormal central auditory function does not cause hearing loss (reduction in volume and/or degradation of sound at the level of the ear) but rather results in the inability to process complex signals. Evaluation of central auditory function is obtained through complex behavioral testing in which the listener is required to complete complex auditory tasks, such as integrating or separating different simultaneously presented acoustic signals in both ears (often numbers, words, or phonemes); understanding speech when it is compromised by background noise or sent through a filter; listening to speech and noise that may be coming from different directions; interpreting auditory patterns; or discerning if there are gaps present in noise. Deficiencies can be unilateral or asymmetric, and patterns of deficiencies can allude to behavioral symptoms, outcomes, and rehabilitation. There is evidence from various sources that central structures (brain) and function can be affected (see Chapter 11).

TYPES OF HEARING LOSS Conductive hearing loss (CHL) is loss that involves dysfunction and/or obstruction of the outer and middle ear structures. In these hearing losses, both the outer and middle ear structures can be bypassed with amplification technology (bone conduction/osseointegrated devices), treated medically/ surgically (cerumen management, ear tubes, tympanoplasty, ossicular surgeries, etc.), or treated with traditional amplification (hearing aids) with enough power to overcome the conductive loss. Sensorineural hearing loss (SNHL) occurs when the inner ear (cochlea) and/or cochleovestibular nerve is affected. These losses may be treated with hearing aids, cochlear implants, auditory brainstem implants, or no medical intervention (choosing to be Deaf and utilize visual and manual communication only). SNHL can be in one or both ears and can be asymmetric. In sensorineural hearing loss, not only are hearing thresholds elevated (as with conductive hearing loss), but the clarity of speech is reduced—and reduced the most with the largest sensorineural hearing losses. In extreme cases— severe-to-profound sensorineural loss—there may be no ability to understand speech even with the best hearing aids. Mixed hearing losses occur when there is combined CHL and SNHL. Treatment may include a combination of the methods mentioned earlier.

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3. Hearing     37 Table 3–1.  Degrees of Hearing Loss Degree of Hearing Loss

dB Range

Examples of What You Can’t Hear

None (Normal)

0–15 dB

Slight/minimal

16–25 dB

Whisper, leaves rustling

Mild

26–40 dB

Soft speech, birds chirping

Moderate

41–55 dB

Normal speech, traffic noise

Moderately severe

56–70 dB

Loud conversations, vacuum cleaner

Severe

71–90 dB

Alarm clock, food processor, train

Profound

>90 dB

Rock concert, airplane landing

Mixed hearing loss is the most common type of loss in CHARGE syndrome. See Table 3–1 for degrees of hearing loss. The distribution of hearing loss in CHARGE, by amount or degree of loss, is approximately 5% normal hearing, 15% mild-moderate, 30% moderatesevere, and 50% severe-to-profound loss (Dhooge et al., 1998; Edwards, Van Riper, & Kileny, 1995; Shah et al., 1998; Trevisi, Ciorba, Aimoni, Bovo, & Mar­­ tini, 2016). Configuration may vary, as well, and may differ between ears. Com­­ mon audiogram configurations for individuals with CS are flat, sloping, rising/reverse slope, and cookie bite (see Figures 3–2, 3–3, and 3–4). A com­­ mon description of loss might be “mild sloping to severe sensorineural hearing loss” or “severe rising to moderate mixed hearing loss.” In some cases, particularly in conductive and mixed losses, there may be quantitative descriptions such as “with 45 to 70 dB air bone gaps.”

AUDIOMETRIC TESTING Regular audiologic assessment is a critical part of the comprehensive health care for individuals with CHARGE. This assessment is most commonly performed by an audiologist and may be in conjunction with a physician/otolaryngologist visit. It is critical that experts in both hearing and medical health of the ear be part of the health care team for a person with CS. In addition to providing information regarding the health of the ear, audiologic assessment is critical to determine the type of interventions necessary to rehabilitate the hearing loss and the ideal methods of communication. The objective of audiologic assessment is to obtain measurements of hearing or auditory function that can be used for the following: (a) to determine the degree, type, laterality, and configuration of hearing loss; (b) to determine if the loss is a good candidate for conventional amplification

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(hearing aids) or implantable devices; and (c) to acquire adequate information so that, if amplification is an option, appropriate devices can be selected and programmed. Hearing losses can fluctuate, progress, and/or worsen due to changes in health status, so regular evaluation is recommended for all individuals. The most important audiologic results are thresholds of hearing for each ear obtained at different frequencies using pure tone signals. The results are recorded on a “pure tone audiogram.” The thresholds are obtained using earphones or insert earphones for air-conducted signals. Results obtained using loudspeakers in the sound field are used to specify hearing in the better ear— but the hearing needs to be known in the two ears separately to fit hearing aids. Pure tone air conduction thresholds indicate the total or overall hearing loss at test frequencies across the range of audible frequencies. Pure tone bone conduction thresholds indicate the amount of sensorineural hearing loss at each frequency. In this evaluation, a bone conduction vibrator placed on the skull is used to vibrate the cochlea directly. The difference between the air and bone conduction thresholds (air-bone gap) is the amount of conductive hearing loss (see Figures 3–2, 3–3, and 3–4). The most complete pure tone audiogram that can be obtained is the information that is needed to fit amplification in each ear. The information can be obtained with behavioral audiometry or with ABR tests. Audiometry Behavioral audiometric tests are the primary tests completed with most patients. They require the cooperation of the individual being tested. Pure tone thresholds (softest sounds possible to be heard by the individual) are measured from low to high frequencies and via both air and bone conduction to gain insight to the amount of loss caused by the contributing ear structures. Standard threshold measurement may be accomplished by using a variety of responses: hand-button presses, hand raises, and verbal responses. Conditioned play audiometry involves training the individual to provide a particular play response (e.g., small toys dropped into a bucket or blocks stacked) and visual reinforcement audiometry involves conditioning a child to turn the head to look at a visual stimulus (e.g., moving toy, blinking light, or video) when a sound is heard. Speech audiometry includes speech thresholds that measure the softest level at which a person can detect or understand two-syllable words or sounds and word recognition testing. This identifies the person’s ability to understand open- or closed-set lists of words. Ideally, both tests are performed with recorded, calibrated stimuli to ensure test accuracy and allow for intertest comparison; however, in the pediatric and/or CHARGE populations, live voice stimuli may be substituted to maintain attention. Responses

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to either test may be obtained via repetition of words heard, pointing to pictures of words heard, and/or pointing to body parts. In one case, a 27-year-old male who was profoundly intellectually challenged communicated with the hearing examiner with utterances of “uh,” “uh-uh,” and “uh-uh-uh.” Speech detection thresholds were obtained by air and bone conduction, and it was determined that this individual had a 60 dB hearing loss for speech that was composed of a 20 dB conductive loss and a 40 dB sensorineural loss. Complicating Factors in Behavioral Audiometric Assessment There are a number of factors that can pose obstacles to the behavioral evaluation of hearing that need to be considered: 1. Behavioral issues (see Chapter 27): An individual with CHARGE may exhibit autistic-like behaviors, adaptive behaviors related to difficulties with sensory integration, obsessive-compulsive behaviors, disruptive behaviors, and anxiety—all related to sensory and physical deficits that are specific to that individual. It is a great advantage to the audiologist if the individual is accompanied by a caregiver or professional who knows the individual well and can indicate the activities and conditions in which the individual with CS can participate. In some cases, multiple visits may be required to familiarize the individual who has CS with the test environment and tasks. Test procedures, such as putting on earphones, and behavioral responses can be practiced at home before the audiologic evaluation. In some cases, hearing test procedures are included with aural habilitation therapy, and the child with CS benefits from working with a therapist with whom the child is familiar. 2. Tactile defensiveness: Children with CHARGE whose early lives are often a series of visits to physicians and hospitalizations for serious conditions are often resistant to contact with professionals. This makes audiometric testing via earphones challenging in some cases. 3. Respiration: Individuals with respiratory problems may have difficulty listening at the threshold of hearing, as the loud breathing or respiratory equipment may be louder than the thresholds of hearing. 4. Symbolic communication (see Chapters 24–26): Communication development is almost universally delayed in CHARGE—often by years. Many children may be unable to provide responses to word recognition testing. 5. Vision loss, including ocular colobomas (see Chapter 2): Colobomas create holes in the visual fields. For optimal vision, an individual may not look straight ahead but rather at some other angle to avoid a void in the visual field. This complicates conditioning for visual reinforcement

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audiometry, as the “reward” is visual and relies on peripheral vision. Poor visual acuity can present similar issues. Testing can be adapted for those with in-booth assistants who help the child to find the visual stimuli, or by changing to a nonvisual reinforcer. 6. “Communication bubble”: The auditory and visual deficits in CHARGE may restrict the distances and locations at which personal communication can be conducted optimally or even acceptably. The talker needs to be situated within a “communication bubble,” in which the talker can be seen and heard. The size and configuration of the communication bubble will be dictated in part by voice levels, background noise, and ambient lighting. In a calibrated test booth situation that requires the audiologist to be seated outside of the room from the patient, this can complicate successful communication.

Immittance Measures Immittance measures include tympanometry, acoustic reflex threshold measurement, and acoustic reflex decay measurement. In these measures, sound reflected off the tympanic membrane is used to assess middle ear function and assessment of sensory and neural structures in the lower part of the auditory system. Immittance measures are not a direct measure of hearing but add information to the assessment of structural function. They can provide information regarding tympanic membrane structure (a large volume would suggest a perforation or an open ear tube), eustachian tube dysfunction (negative pressure indicates this), and the presence of middle ear effusion (a “flat” or “Type B” response with a normal volume suggests that the eardrum is unable to move, and this is the most common result with and suggestive of middle ear effusion with or without infection). Acoustic reflex thresholds and decay measures can provide insight into the auditory nerve, facial nerve, and brainstem status; however, they rely on a normal middle ear system and, therefore, are often unmeasurable in those with CHARGE. Complications listed earlier for audiometry, particularly behavioral differences and tactile defensiveness, are also applicable to tympanometry.

Otoacoustic Emissions Otoacoustic emissions (OAEs) assess the function of the cochlear outer hair cells. The most common types of OAE testing are distortion product otoacoustic emissions (DPOAEs) and transient-evoked otoacoustic emissions (TEOAEs). As with acoustic reflex decay measurement, OAEs are typically not measurable in the presence of middle ear dysfunction, even if the cochlear outer hair cells are perfectly healthy. For this reason, they often do not have diagnostic value in those with CHARGE but can be helpful in the

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absence of middle ear disease and with normal hearing or less severe hearing losses. These tests require patient cooperation to include silence and stillness, which can be difficult for individuals with CS. Electrophysiologic Testing As stated previously, behavioral tests are the standard for collecting information about hearing that is necessary for accurate diagnosis and rehabilitation of hearing loss. However, in individuals with CHARGE, behavioral and sensory defensiveness, vision impairment, and cognitive differences can make behavioral assessment nearly impossible. Measures of hearing that do not require cooperation but rather are objective are referred to as electrophysiologic testing or auditory-evoked potentials. In these tests, several electrodes are placed on the individual, and auditory stimuli are presented to the ears. The electrodes measure the brain waves that occur as the nerve responds to sound. By assessment of these waves (morphology, amplitude, latency/shape, size, and placement) relative to the stimulus and the level/ volume at which it is presented, the hearing thresholds can be estimated. The most common test performed is the auditory brainstem response (ABR/BAER), which can be performed to assess tone-specific air- and boneconduction thresholds, as well as neural synchrony (whether the nerve fires in an organized or dyssynchronous way). The auditory steady-state response (ASSR) can better estimate severe-to-profound losses. It should be noted that both tests require the patient to be very still and quiet, so this test is often performed under sedation, particularly for children. As sedation can be risky, particularly in individuals with other confounding health variables, these tests are often scheduled when the individual is also having other tests done (e.g., tube placement, imaging). Newborn hearing testing is most often performed via automated ABR testing in the hospital, though at times OAEs are used instead of or in addition to ABR testing. If a newborn fails the screening test, it is recommended that formal ABR evaluation be completed as soon as possible, both for the earliest intervention and because the test can at that age be completed under natural sleep conditions, without sedation. Central Auditory Processing Assessment Behavioral testing to assess central auditory processing ability involves cooperation for at least an hour in testing that requires attention to and repetition of words, numbers, and sounds. The diagnosis of deficiencies of the central auditory processing (CAP) system can only be made by an audiologist and must be conducted using recorded, ear-specific materials (under headphones). Normative data from tests are derived from children and adults with nor­­ mal and symmetrical hearing, normal language development, and congruent

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cog­­nitive and chronological age. When any of these deviate, analysis of the results is confounded, and diagnosis is not possible. In CHARGE, hearing is very rarely normal, language delay is very common, and there are often cognitive deficits. In the rare scenario in which those factors are within normal limits, the individual must be able to tolerate the long and difficult testing. For this rea­ son, appropriateness for testing for CAP dysfunction should be carefully considered before proceeding, as it may lead to inaccurate diagnosis.

Summary: Audiometric Testing The measurement of hearing and the treatment of hearing loss in children with CHARGE can challenge even the most experienced pediatric audiologist. The unique anomalies, behaviors, and technical considerations for evaluating an individual with CS require special professional attention. However, it is critical to note that the successful management of hearing loss has been shown to be highly correlated with the development of symbolic communication that can enable an individual with CS, who might otherwise be isolated, to interface with the world at large (Thelin & Fussner, 2005).

TREATMENT AND INTERVENTION A large majority of individuals with CHARGE have hearing loss, and most can benefit from some form of amplification. The goal of amplification is usually to make speech audible so that communication can develop through the auditory channel and symbolic language can be learned; however, it is possible that a percentage of those with CS will not develop spoken language even with the optimal form of amplification. For these individuals, there are often other benefits to amplification, such as awareness of speech and environ­ mental sounds that may contribute greatly to the individual’s sensory input and orientation in the environment. Success with amplification always requires full-time use (worn when the person is dry and awake and, in the case of young children, supervised). Also critical are family support and commitment, as well as early intervention by audiologists, speech-language pathologists, edu­­ cators, and other professionals experienced in assisting a multiply impaired child with hearing loss to learn how to hear and identify sounds and speech. There are several options for amplification that are used by children with CHARGE, and the choice depends on sensory, behavioral, anatomical, physiological, and medical factors. For each individual, the solution is unique. In the CS community, it is common for families to discuss treatment options with other families or seek opinions via online CS communities. While interfamily support is very beneficial, this can make the choice for families confusing. It is important to understand that since the types and degrees of the hearing

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loss can differ so greatly from child to child, and anatomical variations are unique to each person, the solution for one child with CS may be inappropriate for another child. In the following sections, an overview is presented of several different forms of amplification that are used by individuals with CS. It should be noted that before amplification is selected and fitted, ear-specific and frequency-specific hearing thresholds must be obtained or estimated using behavioral audiometry or electrophysiologic measures. Hearing Aids Air conduction hearing aids have microphones that pick up incoming sounds; analyze, clean, and organize the sounds; amplify the sounds according to the hearing loss and programming adjustments by the professional; and project those sounds into the ear. Hearing aids come in many forms, but the most commonly used in children is a behind-the-ear (BTE) hearing aid. This form has the hearing aid behind the ear and a hollow soft plastic tube attached from the aid to an earmold that is custom shaped for the person’s ear. During fitting, measurements (often called “real ear measures,” “real ear to coupler difference/RECD values,” or verification) determine acoustic properties of the individual’s ear (size, absorbance, resonance) and allow for person-based adjustments to the hearing aids settings based on that person’s actual ear and research-based prescriptive algorithms. These measures will reveal if hearing aids are able to provide adequate gain to rehabilitate the hearing loss. If BTE aids do not provide adequate benefit, other forms of amplification will be considered. Materials for ear molds and hearing aids should be carefully considered in regard to the individual’s unique anatomical differences, hearing losses, and medical conditions. For example, if a child has chronically draining ears, an earmold that is made of a medical-grade material that can withstand regular sanitization will be necessary. Families and practitioners should keep in mind that if colors or glitter are added to medical-grade, hypoallergenic materials, risk of reaction/reinfection rises. Other factors to consider when selecting hearing aids are moisture resis­ tance, rechargeability, Bluetooth capability (either direct or through an accessory), frequency compression/transposition, and DAI/FM/remote microphone compatibility. FM systems or remote microphone systems enable someone’s voice or other intended signals to be delivered directly into the hearing aids. This is most commonly employed in educational settings so that the teacher’s voice is transmitted directly to the child’s ear and is not in competition with the external noise (improvement in signal-to-noise ratio). These systems are also very helpful in the home and other noisy environments. The use of remote microphone systems (in comparison to children only wearing hearing aids) has been shown to increase exposure to high-quality child-directed speech. Research has found that this increased exposure positively impacts language development (Benítez-Barrera, Thompson, Angley, Woynaroski, & Tharpe, 2019).

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Though BTE hearing aids typically provide a great deal of benefit, there are a number of obstacles to their successful use that are common in CHARGE. Some of these obstacles are as follows: n Misshapen pinnae with soft cartilage may not support BTE hearing

aids well. The aids may fall off the ears and may need to be held in place with toupee tape, “huggie,” or other retention device. n Narrow ear canals may make it difficult to create an earmold that

allows a tube or receiver to be successfully placed. n Conical ear canals and pinnae without landmarks that enable reten-

tion may make keeping a mold in place in the ear very difficult. Earmold features such as helix locks may need to be added, and audiologists may need to work creatively with the manufacturer to find a viable solution. n Middle ear effusion draining through a perforated eardrum may

clog a hearing aid earmold and prevent the sound from reaching the ear. If there is drainage in the ear canal, the use of an earmold may be medically contraindicated. With the large hearing losses that are common in CHARGE, especially when there are very large conductive losses or air-bone gaps, very high levels of amplification may be required. If the ear mold does not fit securely (and, in some cases, even when it does fit securely), acoustic feedback may occur or the measures necessary to eliminate the feedback may limit the output of the hearing aids, which may greatly compromise or eliminate the benefit of the device. All hearing aids will require routine follow-up with the audiologist for cleanings, electroacoustic and listening checks, and repeat programming fol­ lowing growth, reevaluation, and/or change of ear mold. With good care, con­­ temporary hearing aids, which often are made with high levels of moisture and dust resistance, should last at least 5 years. Establishing a routine for care, maintenance, and dehumidification can help to prolong the life of a hearing aid. For young children, ear molds need to be changed often as the ears grow.

Auditory Bone Conduction Devices Evidence from children with isolated hearing loss suggests that the greatest chance for the acquisition of symbolic language occurs when hearing loss is treated successfully by 6 months of age ( Yoshinaga-Itano, Sedey, Coulter, & Mehl, 1998; further supported by the 2019 Joint Commission on Infant Hearing). If amplification or other treatment is provided months or years later, the chances for the development of normal language decrease. However, if hearing loss is present or suspected, attempts need to be made to fit amplification

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regardless of the individual’s age or prognosis. Children with CHARGE often have multiple (often life-threatening) medical needs that preclude adequate hearing testing and hearing habilitation in the early years. Children with CS have the great ability to reach milestones of development and learning well beyond expected ages (see Chapters 18, 23, and 32). This can be true of communication as well—the “window of opportunity” for hearing habilitation in CS may be extended to age 3 years (Thelin & Fussner, 2005). Delayed achievement, such as developing language abilities unexpectedly when amplification is used, is a great source of gratification for parents and a pleasant surprise for professionals. Significantly, Thelin and Fussner (2005) found that acquisition of symbolic language is not related to the degree of hearing loss in individuals with CHARGE. There are individuals with only moderate hearing losses who have a great deal of difficulty hearing, understanding, and communicating—even with amplification. At the same time, there are individuals with severe-toprofound hearing losses who use amplification successfully and use spoken language. Thelin and Fussner (2005) also found that the acquisition of symbolic language was related to the initiation of communication therapy by 3 years of age; this included therapy using spoken language, signed language, or both. As amplification options are being explored, additional methods such as signed language and/or picture exchange systems can be used by themselves or in combination with spoken language (total communication) as the means to establish symbolic language. One young adult with CS commented that her thought processes for spoken and signed language are different and that they reinforce each other when she wishes to express herself. Total communication, or utilizing all possible avenues of communication (oral, sign, gestures, pictures, etc.), is always recommended for children with CS. If the child is able to use amplification to communicate orally, the other methods will likely spontaneously drop off.

EXAMPLES OF HEARING LOSS IN CHARGE SYNDROME As with nearly every aspect of the disorders in CHARGE, there is no typical hearing loss. The purpose of the following section is to give examples of some audiologic findings that are common and some that are extraordinary. This information is expected to be of greatest value to audiologists. Asymmetrical Mixed Hearing Losses The pure tone thresholds are shown on the audiograms in Figure 3–2 for a 58-year-old female with CHARGE. The total loss is much greater in the right ear (severe) than in the left ear (mild-moderate). In the right ear, both the

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middle ear and the cochlea are affected more than the left ear. The middle ear or conductive losses are due to ossicular anomalies. This amount of asymmetry in hearing loss and types of hearing loss is not common and requires comprehensive test procedures to evaluate the status of the ears properly. This is a rare case of familial CHARGE syndrome in which the affected individuals include the woman whose audiograms are shown, her mother, her brother (one of her four siblings), and at least three of her nine children (Mitchell, Giangiacomo, Hefner, Thelin, & Pickens, 1985). Among the affected individuals in this family, auditory anomalies were found in all, but the degree of hearing loss ranged from normal to profound. Asymmetrical Mixed Hearing Losses With Special Challenges In Figure 3–3, the audiometric results are shown for a 21-year-old female with CHARGE. In the right ear, there is a mild mixed loss in the lower frequencies (below 2000 Hz). This loss was caused by a combination of ossicular anomalies and a long history of chronic middle ear disease that caused the ear to drain and interfere with hearing aid use. The cochlea was functioning normally, so there is no sensorineural hearing loss in this part of the frequency range. With the hearing in these lower frequencies in only the right ear, this young woman should have been able to do well understanding speech and in general communication while wearing a hearing aid. In the higher frequencies (above 3000 Hz), the overall hearing loss is profound. Sounds in this frequency region cannot be adequately amplified with a hearing aid and as a result do not contribute to this individual’s understanding of speech, especially for consonant sounds (e.g., “-s” and “-ed”) that carry a great deal of information in spoken English. However, the results for the speech reception threshold indicate a mild hearing loss (35 dB) and an excellent ability to understand speech that includes consonant sounds (100%) with no background noise when the speech was at a very high level (70 dB HL). Thus, under ideal listening conditions and with her hearing aid, this individual could be expected to detect and understand speech well. If speech levels are reduced or in the presence of background noise, the ability to understand speech would be compromised. In the left ear, there is a profound mixed loss due to congenital ossicular anomalies, active middle ear disease, and significant damage to the cochlea. No form of amplification in the left ear can improve this individual’s ability to use this ear effectively. She relies on the hearing in the right ear alone. Further complicating the picture, as this individual has active middle ear disease in the right ear, she is not able to wear her hearing aid all of the time. During these periods, she has a mild hearing loss that is not corrected. As a result, even though she ought to be depending totally on communication through the auditory channel, she relies on American Sign Language in addition to spoken language.

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Figure 3–2.  Pure tone audiograms for a 58-year-old female with CHARGE syndrome. Right ear masked pure tone thresholds: triangles are for air conduction and brackets are for bone conduction. Left ear unmasked pure tone thresholds: crosses are for air conduction, and “greater than” symbols are for bone conduction.

Figure 3–3.  Pure tone audiograms with speech testing results for a 21-year-old female with CHARGE syndrome. Right ear unmasked pure tone thresholds: circles are for air conduction thresholds, and “less than” symbols are for bone conduc­­ tion thresholds. Left ear pure tone thresholds: squares are for masked air conduc­­ tion thresholds and crosses for unmasked air conduction thresholds; right brackets are for masked bone conduction thresholds. 47

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This individual has another problem that is common but not often described in individuals who have significant conductive losses with normal cochlear hearing. With her low-frequency conductive hearing loss, this person hears her own internal noises much louder than people who do not have this conductive loss. When she chews gum or food, the noise masks incoming sounds, and she is unable to understand a talker standing in front of her or sitting across from her at a dinner table. The audiometric results for this individual illustrate the complexities of the hearing problems that can be encountered with CHARGE syndrome. Very Large Bilateral Ossicular Conductive Hearing Losses The results shown in Figure 3–4 illustrate the largest conductive losses that the author has ever found with CHARGE syndrome or any other disorder. Bone-conduction thresholds for this 12-year-old male with CS were measured only for the right ear and are assumed to be the same in the left ear. The average conductive loss measured with standard supra-aural earphones is 67 dB in the right ear and 78 dB in the left ear.

Figure 3–4.  Audiograms for 12-year-old male with CHARGE syndrome. “S” and the solid line are for unmasked pure tone air conduction thresholds obtained using supra-aural earphones. “I” and the dashed line are for unmasked pure tone thresholds obtained using insert earphones. “Less than” symbol is for unmasked pure tone bone conduction thresholds measured on the right mastoid; the dotted lines indicate these thresholds for both ears.

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The thresholds were then remeasured using insert earphones that more closely approximated the signals that would be delivered by a BTE hearing aid: the thresholds worsened by 16 dB in the right ear and 7 dB in the left ear. These shifts occurred because the signals from the standard supra-aural earphones were so intense that the earphone acted as a bone vibrator. The thresholds obtained with insert earphones are closer to what would be expected with hearing aids. With standard supra-aural earphones, in this special case, the amount of the loss was underestimated, and the power requirements for the hearing aid would have been underestimated as well.

AUDITORY BONE CONDUCTION DEVICES Auditory bone conduction devices (BCDs) (see Chapter 8) may be a suitable option for patients who present with either a conductive or mixed hearing loss (see Figure 3–5). Like traditional hearing aids, these devices have microphones, a power source, circuitry for converting the signal according to the patient’s needs, and typically button(s) that allow for manual adjustments. Instead of amplifying sound to be delivered to the middle ear by means of the ear canal, BCDs transfer sound energy through vibration of the skull. Sound vibrations are picked up directly by the inner ear (cochlea), effectively

Figure 3–5.  The Baha allows for bone conduction of sound.

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bypassing the entire outer and middle ear. The resultant hearing can only be as good as the cochlea and auditory nerve can provide. While most BCDs can amplify sound energy to overcome most conductive loss and a unilateral sensorineural (inner ear) hearing loss, they cannot overcome significant sensorineural hearing loss. For patients with a mixed hearing loss (the most common in children with CHARGE), the audiologist must be diligent to determine just how much a device is actually able to amplify. Programming of BCDs is relatively straightforward and similar to what occurs with traditional amplification. The audiologist must adjust the output for the range of frequencies according to the needs of the patient (degree of hearing loss), and account for the fitting arrangement. As with traditional hearing aids, fitting BCDs can be verified objectively to ensure that optimal settings are achieved. Some have the ability to connect with wireless transmitters and make the use of remote microphones in the classroom a possibility. Outcomes with BCDs are typically quite good when the candidate’s auditory system retains the portions responsible for accurate, undistorted hearing. For the most part, large amounts of amplification are not needed, and the signal should be rather clear for the patient. There are many different approaches for wearing BCDs. These have been evolving rapidly as technology improves. It would be prudent for the audiologist and otolaryngologist to provide a description of current options, given the candidacy requirements and specific needs of the patient. Delineation can be broken down into those that are surgically placed versus nonsurgically placed. Nonsurgical Bone Conduction Options Nonsurgical BCD wearing options typically include some sort of headband or other method for keeping the device in good contact with a solid portion of the skull. The most common is a softband, or an elastic headband to which the processor attaches. The softband must be relatively snug in order to provide optimal sound-energy transfer but can be moved to various positions on the head as long as it remains in good contact with the bone of the skull. These can be made for one ear or two, and some very young patients even wear them with the processor located on the forehead to avoid feedback (whistling) when coming into contact with things like car seat bolsters. An alternative to the softband is a headband that goes around the back of the head, putting pressure on the temples to provide retention and to press the attachment for the processor against the bone of the skull. Finally, some innovations in technology led to the implementation of adhesive “stickers” for the processor to attach to the head. The obvious advantage is the loss of any headband without the need for surgery. The stickers can last several days but are one-time-use, so they should not be used by patients who would remove the device frequently. More information and examples can

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be found on this website: https://www.cincinnatichildrens.org/health/b/bone -conduction-devices. Surgical Bone Conduction Options Surgical options for BCDs can be more complicated initially (surgery, recovery, and follow-up) but may simplify some long-term aspects to daily use of the device. While any of the nonsurgical options may be appropriate for patients of any age, surgical approaches have specific age requirements. This is for a variety of reasons but certainly include concerns with bone density and thickness and optimal surgical placement. Parents should be counselled by the surgeon not only regarding the FDA guidelines for a given device but also regarding the appropriateness of the approach considering the age and abilities of the patient. Some surgical approaches require additional upkeep to make sure that the implant site is well maintained by the patient or caregivers. The obvious advantage to any of the surgical approaches is the elimination of a headband or other means of daily wearing. There may also be some improvement in sound quality, but this aspect should be probed further with the audiologist. The following three types of BCD implants include the most contemporary at the time of this writing, but it should be noted that the number of options has exploded in recent years. Post and Abutment The most common BCD implant to date is the transcutaneous post and abutment. This consists of a screw, which is surgically anchored into the temporal bone of the skull, and an abutment that serves as the attachment point for a sound processor. Because the abutment is meant to remain through the skin, special care needs to be taken to keep the implant site clean and healthy. Typically, this approach is reserved for patients who are at least 5 years of age and have sufficient bone thickness and density to accept the implant. Once the implant is placed, the healing time must be sufficient for osseoin­ tegration to occur (about 8–10 weeks) before the BCD processor is attached to the abutment for daily use. Magnetic Plate In an attempt to get away from a transcutaneous post, manufacturers have come up with magnetically held implants. These implants still require surgical mounting to the temporal bone with a screw-type system. The patient must have sufficient bone depth and density for the placement of the device. With this approach, an implanted magnetic plate allows for the attachment of an externally worn magnet to which the BCD processor connects. A limitation of this approach might be dampened sound caused by hair and the

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tissue between magnets. This will have to be taken into consideration by the audiologist to make sure the fitting range will still be adequate. Implanted Active Transducer The final and most recently developed approach to surgically implant BCDs consists of an implanted active transducer that is driven by an externally worn processor. In this case, the portion of the device that vibrates the bone of the skull (transducer) is implanted. The device consists of a transducer, a coil that receives a signal and power from the external processor, and a magnet for holding the processor in place. The externally worn processor consists of microphones, battery, transmitting coil, and a magnet. The primary advantage of these systems is the ability to provide optimal amplification (no dampening) without the need for a transcutaneous post. However, these systems are also the most complex, are costly, and are typically only available to patients over 12 years of age. Bone conduction devices include an extremely wide array of fitting options and may be appropriate for a variety of hearing losses. They may be a good way to manage hearing loss for those with malformed outer ears that ultimately hamper the ability to utilize traditional hearing aids. Not all options are appropriate for every patient, so the details of each should be outlined by the audiologist and otolaryngologist. Relatively good outcomes should be expected for patients who are deemed to be excellent candidates for these devices.

COCHLEAR IMPLANTATION When to Consider Cochlear Implant Cochlear implantation is typically reserved for patients with a severe-toprofound sensorineural hearing loss in both ears. These patients must first undergo a trial with the amplification options described earlier and be found to have inadequate access to sound despite proper fit. While inner ear (cochlear) anatomy and status of the auditory nerve are very important for good outcomes when considering a cochlear implant (CI), many patients have been successfully implanted despite abnormal anatomy. This is especially important for patients with CHARGE, as their inner and middle ear anatomy are often found to be atypical. In addition, appropriate expectations must be set before implantation, as outcomes are heavily impacted by caregiver and patient investments into the process. The primary reason for this is that a CI functions very differently and provides a very different sound quality relative to the amplification options described earlier.

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The Device A CI consists of two components, one that is internally implanted and one that is worn on the outside of the head. The external device is like the previous devices in that it has a microphone for capturing sound, circuitry for processing the signal, and a power source. In addition, the processor has a transmitting coil that is responsible for sending the signal to the internal device, and a magnet for holding the coil or perhaps the entire device in place on the head. The internal device includes circuitry, a receiving antenna, a magnet, and an electrode array. The electrode array is surgically placed inside the cochlea, where a series of metal contacts (electrodes) are meant to take the place of thousands of hair cells (stereocilia) that send signals to the brain through the hearing nerve. Each electrode directly stimulates the hearing nerve with electric pulses. It is important to note this difference since it means that patients who use cochlear implants to hear do not hear the same quality of sound as those with any other type of treatment. Sound Quality The sound produced by a CI is not what an individual with typical hearing would describe as “normal.” However, with consistent device use and appropriate therapies, the recipient is typically able to learn how to hear and understand with a CI. Outcomes as they relate to a patient’s cognitive ability can be quite good. Of course, confounding variables such as age at implant (earlier is better), communication mode and ability, developmental level, amount of support, and anatomical considerations all play a role in the expected outcome. Receiving a CI is only the first step in a patient’s journey, followed by extensive appointments with the audiologists for programming the device and sessions with therapists to help the patient learn how to hear with the new input. Programming a CI requires an audiologist with specialized training. Cochlear implant programming can become quite complex, but in the simplest cases, may only require adjustment of perceptual loudness and threshold for the softest sounds across the electrode array. For the purpose of this chapter, we outline the most basic measurement principles and identify several possible complications specific to patients with CHARGE. n Loud or upper programming levels must be adjusted according to

the patient’s perceived loudness. For many patients, this is a task that is supported by the use of loudness scales, where a picture or number is selected by the patient to indicate their perceived loudness. In many circumstances, more objective measures can be utilized as a guide for where the programming levels should be set

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without the need for patient input. Unfortunately, these objective measures are often not possible in patients with abnormal anatomy for a variety of reasons, as is often the case in patients with CHARGE. In those circumstances, the experienced audiologist must rely on other behavioral cues from the patient, along with caregiver and therapist feedback, to set these levels. n Soft or threshold levels may be set at the patient’s perceptual

threshold, depending on the device. Not all devices require this measurement for optimal programming, but it may be helpful or necessary for some patients, especially if inner ear anatomy is abnormal. For those that do measure threshold, the patient must provide some indication of when a sound is just audible. The same approaches used to determine hearing threshold during a hearing evaluation can be implemented here. n A wide array of additional parameters can be adjusted to optimize

the patient’s use of the device. This includes everything from the pattern for which electrodes are selected for stimulation, to the way a program handles background noise versus speech. More specific to the needs of patients with abnormal inner ear anatomy, the audiologist must specifically evaluate the function of every available electrode. Even in cases where the physical placement of the electrode array is very well understood, the potential for reduced neural integrity will play a role in audibility or sound quality. Furthermore, for many patients with abnormal anatomy, there is an increased possibility for (unintended) stimulation of the facial nerve. This, and other tactile outcomes from implant stimulation, may not be readily visible to the clinician or caregivers, so the difference between true hearing and tactile sensation must be sorted out. Finally, some patients will require special programming to provide improved loudness growth (do sounds get louder with increased stimulation?), appropriate stimulation rate, and distinction of various pitch percepts, all while maintaining adequate battery life.

AUDITORY BRAINSTEM IMPLANTATION Auditory brainstem implants (ABIs) may be considered for patients who have little or no innervation to the inner ear (hypoplastic or absent auditory/ cochlear nerve), or a cochlear anatomy that is not sufficient to receive a CI. These anatomic concerns are of increased importance for patients with CHARGE, as many of the vital hearing structures are often underdeveloped or malformed. The primary purpose of an ABI is to bypass the entire peripheral

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auditory system and deliver sound information directly to the auditory pathway within the brainstem. This is in direct contrast to the CI, which relies on the presence of cochlear anatomy and a functional auditory nerve for opti­ mal outcomes. However, an ABI is similar to a CI in many other ways, including the use of electrodes, an internal receiver, and an external transmitter. In fact, the casual observer is unable to tell the difference between a patient with a CI or an ABI. Programming an ABI is extremely specialized. At this time, there are a very limited number of audiologists worldwide who are qualified to program an ABI, and even fewer centers that are implanting patients. While some aspects of programming an ABI are similar to those of programming a CI, several major differences exist. First, an ABI is implanted in a portion of the brainstem that could also stimulate nonauditory portions of the body. Of course, this is to be avoided or accounted for in programming and requires evaluation from a team of clinicians. The second major difference is that unlike a CI, an ABI generally does not have an established layout to dictate the perception of pitch. This means that the audiologist must be able to distinguish high pitch from low pitch through the stimulation of one electrode relative to another—a difficult task for adult patients and an extremely difficult task for children. Finally, many of the objective measures available to assist with programming a CI simply do not translate to programming an ABI. For these reasons, much of the programming for ABIs is dependent on clinical skill and patient participation. It is therefore not surprising that outcomes for patients who receive an ABI may be more limited than for those who receive a CI. As the field grows to comprehend more about the device, we see that outcomes are generally improving. However, speech understanding is less likely to occur without the benefit of additional communication methods. Many of these patients still rely on the use of manual forms of communication and/or speech reading.

REFERENCES Bamiou, D. E., Worth, S., Phelps, P., Sirimanna, T., & Rajput, K. (2001). Eighth nerve aplasia and hypoplasia in cochlear implant candidates: The clinical perspective. Otology & Neurotology, 22(4), 492–496. Benítez-Barrera, C. R., Thompson, E. C., Angley, G. P., Woynaroski, T., & Tharpe, A. M. (2019). Remote microphone system use at home: Impact on child-directed speech. Journal of Speech, Language, and Hearing Research, 62(6), 2002–2008. Dhooge, I., Standaert, L., Lemmerling, M., Govaert, P., Lagache, M., & Mortier, G. (1998). Otological manifestations of CHARGE association. Annals of Otology, Rhinology and Laryngology, 107(11), 935–941. Edwards, B. M., Van Riper, L. A., & Kileny, P. R. (1995). Clinical manifestations of CHARGE association. International Journal of Pediatric Otorhinolaryngology, 33(1), 23–42.

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56     CHARGE SYNDROME Joint Commission on Infant Hearing. (2019). Year 2019 position statement: Princi­ ples and guidelines for early hearing detection and intervention programs. Journal of Early Hearing Detection and Intervention, 4(2), 1–44. Legendre, M., Abadie, V., Attié-Bitach, T., Philip, N., Busa, T., Bonneau, D., . . . Gilbert-Dussardier, B. (2017). Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 175(4), 417–430. Mitchell, J. A., Giangiacomo, J., Hefner, M. A., Thelin, J. W., & Pickens, J. M. (1985). Dominant CHARGE association. Ophthalmic Paediatrics and Genetics, 6(1–2), 31–36. Morimoto, A. K., Wiggins, R. H., Hudgins, P. A., Hedlund, G. L., Hamilton, B., Mukherji, S. K., . . . Harnsberger, H. R. (2006). Absent semicircular canals in CHARGE syndrome: Radiologic spectrum of findings. American Journal of Neuroradiology, 27(8), 1663–1671. Satar, B., Mukherji, S. K., & Telian, S. A. (2003). Congenital aplasia of the semicircular canals. Otology and Neurotology, 24(3), 437–446. Shah, U. D., Ohlms, L. A., Neault, M. W., Willson, K. D., McGuirt Jr, W. F., Hobbs, N., . . . Healy, G. B. (1998). Otologic management in children with the CHARGE association. International Journal of Pediatric Otorhinolaryngology, 44(2), 139–147. Thelin, J. W., & Fussner, J. C. (2005). Factors related to the development of com­ munication in CHARGE syndrome. American Journal of Medical Genetics Part A, 133(3), 282–290. Thelin, J. W., Mitchell, J. A., Hefner, M. A., & Davenport, S. L. H. (1986). CHARGE syndrome. Part II. Hearing loss. International Journal of Pediatric Otorhinolaryngology, 12(2), 145–163. Trevisi, P., Ciorba, A., Aimoni, C., Bovo, R., & Martini, A. (2016). Outcomes of longterm audiological rehabilitation in charge syndrome. Acta Otorhinolaryngol Italica, 36(3), 206–214. Yoshinaga-Itano, C., Sedey, A. L., Coulter, D. K., & Mehl, A. L. (1998). Language of early- and later-identified children with hearing loss. Pediatrics, 102(5), 1161–1171.

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CHAPTER 4

Smell: The Olfactory System VÉRONIQUE ABADIE

EMBRYOLOGY AND ANATOMY Development of the olfactory system begins very early in the human embryo. Olfactory bulbs have their definitive structure at day 56 (Bossy, 1980). Cells of the olfactory placode (thickening in the embryonic tissue) then differentiate to gonadotropic cells and migrate to the hypothalamic region of the brain along the terminal nerve (also known as cranial nerve zero, CN 0), the olfactory nerve (cranial nerve I, CN I), and the vomeronasal nerve. One section of the olfactory system projects into the anterior part of the hypothalamus, where it is responsible for odor perception and discrimination. The other projects to the limbic system and the hippocampus, where the behavioral impact of olfaction and olfactory emotional memory reside. The olfactory epithelium (tissue composed of cells) in the human is located high within the nasal bone and averages 1- to 2-cm2 surface area on each side of the nose. The olfactory epithelium contains several types of cells, especially the cell bodies of olfactory receptor neurons. Olfactory receptor neurons are bipolar neurons that project a single dendrite to the surface of the olfactory epithelium and a single axon to the olfactory bulb. There are 10 to 20 million olfactory receptor neurons in the nasal cavity of the typical human. Unlike many neurons, they have the very special ability to renew themselves throughout life (Hadley, Orlandi, & Fong, 2004). About 500 genes are known to encode 57

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for odorant receptors (proteins at the surface of these neurons), which is a significant proportion of the total number of genes in humans. Axons of these primary neurons expressing the same odorant receptor converge in the olfactory bulb on the same loci, termed glomeruli. Buck (2004) provided evidence that one odorant can activate multiple receptors and a receptor can be activated by multiple odorants. Several primary olfactory neurons project on one glomerulus of the secondary neurons that convey the information to the olfactory cortex (Buck, 2004; Buck & Axel, 1991). Olfaction occurs not only when molecules are carried in the inspired or sniffed air, but also up from the mouth during chewing and swallowing. Odorant molecules are transported across the olfactory mucus that blankets the surface of the olfactory epithelium. Regulation of this mucus may influence the degree of smell perception (Hadley et al., 2004).

DEVELOPMENT AND PHYSIOLOGY OF OLFACTION: NORMAL AND DEFICIENT SENSE OF SMELL Olfaction is functional during prenatal life, and neonates and infants keep preferences for taste or fragrances they have experienced during their prenatal life (Schaal, Marlier, & Soussignan, 2000). At birth, newborns have highly efficient olfactory abilities, allowing them to discriminate the odor of their mothers’ skin or milk from those of other mothers, and to modify their feeding behavior according to the milk flavor. These very early experiences engrave food preference for a long time (Maier, Chabanet, Schaal, Leathwood, & Issanchou, 2008; Marlier & Schaal, 2005). In infants and toddlers, olfaction is efficient, but only observation can show this ability. Hence, it has been shown that reproducible behavioral modifications (breathing rhythm, mobility, and sight) indicate that healthy children aged from 3 months to 3 years have good olfaction abilities (Pomares, Schirrer, & Abadie, 2002). Olfaction testing includes measures of olfactory threshold and evaluation of odor discrimination. Of course, these tests, especially discrimination, involve language, memory, and cognitive function. In children, it is difficult to differentiate the sense of smell from the capacity to distinguish particular fragrances. Several studies have shown that olfaction improves from the age at which it becomes testable (6 to 7 years old) until the age of about 40 years. After puberty, females have better olfaction abilities than males. From the age of about 40 years on, olfaction abilities decrease, which may partly explain anorexia in the elderly (Doty et al., 1984; Richman, Sheehe, Wallace, Hyde, & Coplan, 1995). Sense of smell is important for nutrition, safety, quality of life, emotions, and personal relationships. Knowledge about the roles of olfaction in humans is mainly deduced from features of people affected with anosmia/hyposmia (absent or reduced sense of smell). But most of the studied losses of smell are acquired, which may be very stressful and depressing. Studies regarding

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congenital anosmia/hyposmia are few and mostly in adults with Kallmann syndrome. Kallmann syndrome consists of congenital hyposmia and hypogonadism, resulting in disrupted puberty and, to a lesser extent, anosmia. One study of about 50 adults with isolated congenital anosmia who completed questionnaires regarding their eating and washing behaviors, household accidents, and intimate life, showed that they did not differ from typical people in their eating and washing behavior, or their mother or partner attachment, but they reported more household accidents, more worries about social situations, and higher scores of depression than controls (Croy, Negoias, Novakova, Landis, & Hummel, 2012).

SENSE OF SMELL IN INDIVIDUALS WITH CHARGE SYNDROME Olfaction Deficiency The hypothesis of an olfaction deficiency in CHARGE syndrome (CS) emerged early. First, autopsies of newborns or fetuses with suspicion of CS showed anomalies of the forebrain and the rhinencephalon (part of the brain involved in smell) (Pagon, Graham, Zonana, & Yong, 1981). Then, the understanding of the genital hypoplasia, delayed puberty, and growth retardation of patients with CS indicated that their hormonal anomalies were not due to pituitary malformation but to hypothalamic hypogonadotropic hypogonadism (severe deficiency of the gonadotropin-releasing hormone, GnRH). That is, the pituitary gland is not producing hormones because it is not stimulated by the hypothalamus (GnRH deficiency) (Pinto et al., 2005). Moreover, the frequency of anomalies in the upper airways in CS (e.g., choanal atresia, pharyngolaryngomalacia, tracheostomy, cleft palate) led to speculation about olfactory function in these patients. Finally, there was interest in investigating how an additional sensory deficit in children with multiple sensory deficiencies might contribute to our understanding of their behavior. In 2004, the first study testing olfaction in children with CHARGE syndrome was performed with the French Biolfa olfactory test, which had been validated in healthy young adults (Bonfils, Faulcon, & Avan, 2004). This test is divided into a quantitative trial and a qualitative trial. The threshold test consists of nine aqueous dilutions (water based) of three components: eugenol, aldehyde C14, and PEA (smelling of cloves, peach, and rose, respectively). The lowest concentration at which one of these odors is detected is termed the detection threshold. In each trial, the child chooses which of two stimuli (an odor or a blank), presented sequentially and in random order, smelled stronger. The second part of the test is a qualitative evaluation in which the child is asked to recognize an odor presented at a concentration corresponding to the

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child’s own olfactory detection threshold as previously measured. From the eight odors available for adults, the six most likely to be familiar to children were selected in order to be sure that olfaction, and not cognitive processes, is tested: citronella (lemon), cis-3-hexenol (grass), L-carvone (mint), 1-octen3-ol (mushroom), vanillin (vanilla), and para-cresyl acetate (horse dung). Moreover, drawings representing 10 odors were systematically presented to the child in order to help with memory and oral expression. The same investiga­ tor performed all the tests. For the 14 children with CS (8 girls, 6 boys, ages 7.5 to 18 years), one parent was present during the test in order to avoid communication difficulties with the investigator. The results indicated olfaction deficiency in all 14: half (n = 7) were anosmic (no smell), and the others were hyposmic (reduced smell: 3, severe hyposmia: 3, and moderate hyposmia: 1). Six out of 14 (42%) had histories of choanal atresia, tracheostomy, or cleft palate. Of these six, half were anosmic and half were hyposmic, and so not different from the larger group. This study did not identify any statistical correlation between olfactory efficiency and feeding disorders (duration of tube feeding, poor appetite, or difficulties with chewing and swallowing pieces). The olfaction deficiency was not correlated with the other sensory deficits (vision loss and hearing loss). Regarding level of developmental disability, the whole group was divided into two subgroups (high and low functioning level). All of the children in the “low” group were anosmic, but anosmic children were found in the “high” group, suggesting that anosmia could be one of the factors that correlate with final developmental level. All nine children who underwent brain magnetic resonance imaging (MRI) had anomalies of the olfactory bulbs, but without any correlation between radiological and functional results (Chalouhi et al., 2005). Subsequent studies have confirmed abnormal development of the olfactory bulbs (rhinencephalon), visible either on brain MRI or detectable by hormonal dosages (Asakura et al., 2008; Pinto et al., 2005). As a cranial nerve anomaly, hyposmia/anosmia could be considered as a major criterion in the diagnosis of CHARGE syndrome (Blake & Prasad, 2006). However, given that sense of smell is not easy to test, especially in the neonatal period, brain MRI that includes the analysis of the olfactory pathways is appro­ priate when the diagnosis of CS is suspected. Absence or hypoplasia of the olfactory bulbs is relatively specific to CS, as it is rare in other multiple malformation syndromes. Fetal MRI analysis of the olfactory bulbs and sulci (fissures) may be helpful for suspecting CS during prenatal life (Azoulay et al., 2006). Since olfactory bulbs and cells responsible for GnRH secretion have the same origin, it is relevant to search for correlation between anosmia and puberty. This correlation was demonstrated in a series of 15 patients with CHARGE, allowing the authors of the study to conclude that “Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome” (Bergman, Bocca, Hoefsloot, Meiners, & van Ravenswaaij-Arts, 2011). Another group looked at eight individuals with known CHD7 pathogenic variants and olfaction deficiency. They confirmed the high ratio of olfaction deficiency in this series (6/8) and noted that the three best results from olfactory testing were

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observed in individuals with mutations in exon 33, which does not code for the well-characterized domains of the protein. The same team analyzed CHD7-deficient mice to further understand the disruptions in the anatomy and physiology of the olfactory system in CS (Layman et al., 2009). Knowing that a very large majority of individuals with CHARGE syndrome have olfaction deficiency is important for several reasons: first, for con­ firming the overlap between CS and Kallmann syndrome; second, for a better understanding of feeding disorders of infants with CS; and finally, to consider the possible influence of hyposmia on social bonding and challenging behavior in individuals with CS. Links Between CHARGE and Kallmann Syndrome The phenotype described by the combination of olfaction deficiency, hypogonadotropic hypogonadism (HH) characterized by delayed or absent puberty, and abnormal anatomy of olfactory bulbs is called Kallmann syndrome (KS). KS is a heterogeneous condition with two distinct genetic molecular loci identified: Kal-1, which encodes anosmin-1 and is responsible for X-linked KS; and Kal-2, which encodes a fibroblast growth factor receptor-1 (FGFR-1) and is responsible for autosomal recessive KS (Cadman, Kim, Hu, González-Martínez, & Bouloux, 2007). Prior to routine DNA testing, some patients with KS were reported to have additional features, including many that are consistent with a diagnosis of CHARGE syndrome (renal anomalies, choanal atresia, and hearing loss). It is important to consider a diagnosis of CHARGE syndrome in the presence of these additional findings and evaluate for CHD7 variants (  Jongmans et al., 2009; Kim et al., 2008; Klein, Friedman, Brookshire, Brown, & Edman, 1987). Analysis of CHD7 in 783 patients with isolated HH, showed 5% had potentially significant CHD7 variants (Balasubramanian et al., 2014). Olfaction and Feeding in CHARGE Syndrome There are many reasons for feeding problems in newborns and young children with CHARGE, most notably sucking and swallowing incoordination due to brainstem and cranial nerve dysfunction, oral or esophageal malformations, upper airway obstructions, early surgery, early and long-lasting hospitalization, along with mother-baby separation, and so on (Blake & Hudson, 2017; see Chapters 9 and 10). The importance of olfaction in the neonatal period suggests that olfaction deficiency in babies with CS may disturb their feeding skills. Many toddlers with CS who eat orally are picky eaters, with strong preferences for specific textures, tastes, and consistencies. Given our understanding of olfaction in CS, it is likely (and observed) that children would give more importance to textures than to “taste” (which is really mostly smell). Infants and children with CS are more likely to enjoy food that

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is clearly salty or sweet and even sour or spicy, as those are true “tastes,” which may be less impaired than smell. Some parents report that their children have a peculiar habit of stuffing their mouths with too much food and too quickly. One can imagine that they need to feel in contact with the food in order to sense and appreciate it (Blake & Hudson, 2017). As an intervention, one might first try odor education, by surrounding the infant with a high level of fragrances, and by using their trigeminal sensitivity (sensory root of cranial nerve V responsible for perception of spicy and irritant odor) for what seems normal. Trigeminal sensitivity facilitates the discrimination of taste (sweet, salt, sour, bitter, and umami) and the perception of irritant odors (see Chapter 10). Olfaction and Behavior in CHARGE Syndrome We now know that behaviors, especially difficulties in social links and autisticlike behaviors, are some of the most challenging issues in children with CHARGE syndrome. At the same time, there is growing interest in the senses, particularly olfaction, in individuals with autism spectrum disorder (ASD). There is some agreement that there may be a reduction of smell capacity in people with ASD (Tonacci et al., 2017). It is likely that olfaction deficiency plays at least some role in the behavior of individuals with CS. They may not form odor memories—memories associated with a particular person, place, or food. We do not yet know how these different experiences change the world of an individual with CS. The assumption that the sense of smell is likely either absent or decreased in nearly every individual with CS can be helpful in their education, both at home and at school. Consider how difficult it is to understand odors, good and bad, if they are not part of your experience—how do you get children to imagine and understand what it is? Older children may not be aware of odors that are unpleasant (e.g., body or foot odor, flatulence, feces, and urine) or have specific social meaning (e.g., perfume, baking cookies) to others. Children need to be specifically taught things that come as incidental learning to typical children. This is especially true for information about odors that are unpleasant to others and odors that indicate danger. Reduction of sense of smell is part of the peculiarities and specifics of CS.

REFERENCES Asakura, Y., Toyota, Y., Muroya, K., Kurosawa, K., Fujita, K., Aida, N., . . . Adachi, M. (2008). Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome. Journal of Clinical Endocrinology and Metabolism, 93(3), 920–924.

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4.  Smell: The Olfactory System       63 Azoulay, R., Fallet-Bianco, C., Garel, C., Grabar, S., Kalifa, G., & Adamsbaum, C. (2006). MRI of the olfactory bulbs and sulci in human fetuses. Pediatric Radiol­ ogy, 36(2), 97–107. Balasubramanian, R., Choi, J. H., Francescatto, L., Willer, J., Horton, E. R., Asimacopoulos, E. P., . . . Cowley Jr, W. F. (2014). Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency. Proceedings of the National Academy of Sciences, 111(50), 17953–17958. Bergman, J. E., Bocca, G., Hoefsloot, L. H., Meiners, L. C., & van Ravenswaaij-Arts, C. M. (2011). Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome. Journal of Pediatrics, 158(3), 474–479. Blake, K. D., & Hudson, A. S. (2017). Gastrointestinal and feeding difficulties in CHARGE syndrome: A review from head-to-toe. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(4), 496–506. Blake, K. D., & Prasad, C. (2006). CHARGE syndrome. Orphanet Journal of Rare Dis­ eases, 1(1), 34. Bonfils, P., Faulcon, P., & Avan, P. (2004). Screening of olfactory function using the Biolfa olfactory test: Investigations in patients with dysosmia. Acta Oto-Laryngologica, 124(9), 1063–1071. Bossy, J. (1980). Development of olfactory and related structures in staged human embryos. Anatomy and Embryology, 161(2), 225–236. Buck, L. B. (2004). The search for odorant receptors. Cell, 116, S117–S120. Buck, L., & Axel, R. (1991). A novel multigene family may encode odorant receptors: A molecular basis for odor recognition. Cell, 65(1), 175–187. Cadman, S. M., Kim, S. H., Hu, Y., González-Martínez, D., & Bouloux, P. M. (2007). Molecular pathogenesis of Kallmann’s syndrome. Hormone Research in Paediat­ rics, 67(5), 231–242. Chalouhi, C., Faulcon, P., Le Bihan, C., Hertz-Pannier, L., Bonfils, P., & Abadie, V. (2005). Olfactory evaluation in children: Application to the CHARGE syndrome. Pediatrics, 116, 81–88. Croy, I., Negoias, S., Novakova, L., Landis, B. N., & Hummel, T. (2012). Learning about the functions of the olfactory system from people without a sense of smell. PloS ONE, 7(3), e33365. Doty, R. L., Shaman, P., Applebaum, S. L., Giberson, R., Siksorski, L., & Rosenberg, L. (1984). Smell identification ability: Changes with age. Science, 226(4681), 1441– 1443. Hadley, K., Orlandi, R. R., & Fong, K. J. (2004). Basic anatomy and physiology of olfaction and taste. Otolaryngologic Clinics of North America, 37(6), 1115–1126. Jongmans, M. C., van Ravenswaaij-Arts, C. M., Pitteloud, N., Ogata, T., Sato, N., Claahsen-Van der Grinten, H. L., . . . Hoefsloot, L. H. (2009). CHD7 mutations in patients initially diagnosed with Kallmann syndrome—The clinical overlap with CHARGE syndrome. Clinical Genetics, 75(1), 6571. Kim, H. G., Kurth, I., Lan, F., Meliciani, I., Wenzel, W., Eom, S. H., . . . Layman, L. C. (2008). Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. American Journal of Human Genetics, 83(4), 511–519. Klein, V. R., Friedman, J. M., Brookshire, G. S., Brown, O. E., & Edman, C. D. (1987). Kallmann syndrome associated with choanal atresia. Clinical Genetics, 31(4), 224–227.

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64     CHARGE SYNDROME Layman, W. S., McEwen, D. P., Beyer, L. A., Lalani, S. R., Fernbach, S. D., Oh, E., . . . Martin, D. M. (2009). Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome. Human Molecular Genetics, 18(11), 1909–1923. Maier, A. S., Chabanet, C., Schaal, B., Leathwood, P. D., & Issanchou, S. N. (2008). Breastfeeding and experience with variety early in weaning increase infants’ acceptance of new foods for up to two months. Clinical Nutrition, 27(6), 849–857. Marlier, L., & Schaal, B. (2005). Human newborns prefer human milk: Conspecific milk odor is attractive without postnatal exposure. Child Development, 76(1), 155–168. Pagon, R. A., Graham, J. M., Zonana, J., & Yong, S. L. (1981). Coloboma, congenital heart disease and choanal atresia with multiple anomalies: CHARGE association. Journal of Pediatrics, 99(2), 223–227. Pinto, G., Abadie, V., Mesnage, R., Blustajn, J., Cabrol, S., Amiel, J., . . . Netchine, I. (2005). CHARGE syndrome includes hypogonadotropic hypogonadism and abnor­ mal olfactory bulb development. Journal of Clinical Endocrinology and Metab­ olism, 90(10), 5621–5626. Pomares, C. G., Schirrer, J., & Abadie, V. (2002). Analysis of the olfactory capacity of healthy children before language acquisition. Journal of Developmental and Behavioral Pediatrics, 23(4), 203–207. Richman, R. A., Sheehe, P. R., Wallace, K., Hyde, J. M., & Coplan, J. (1995). Olfactory performance during childhood. II. Developing a discrimination task for children. Journal of Pediatrics, 127(3), 421–426. Schaal, B., Marlier, L., & Soussignan, R. (2000). Human fetuses learn odours from their pregnant mother’s diet. Chemical Senses, 25(6), 729–737. Tonacci, A., Billeci, L., Tartarisco, G., Ruta, L., Muratori, F., Pioggia, G., & Gangemi, S. (2017). Olfaction in autism spectrum disorders: A systematic review. Child Neu­ ropsychology, 23(1), 1–25.

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CHAPTER 5

Overview of Balance and the Vestibular System CLAES MÖLLER

INTRODUCTION The ability to walk upright on two legs and keep equilibrium is dependent on the integrity of a complex system consisting of three major “receptor organs”: the vestibular, visual, and somatosensory systems (Figure 5–1). The impulses from the vestibular (labyrinth) part of the inner ear, the eyes (visual), and the stimuli from skin muscles, tendons, and joints (somatosensory) are so harmoni­ ously balanced that, under normal conditions, they are well integrated. Afferent (incoming) signals from all three systems are conveyed into the brainstem and cerebellum, where they are processed and then transmitted to the cortical parts of the brain through efferent (outgoing) nerve fibers, mainly to muscles and eyes in order to maintain coordinated movements. Assessment of these three systems and the central nervous processing in the brain is essential when evaluating children and adults with CHARGE syn­ drome (CS), as the vast majority of persons with CS have malformed or absent vestibular organs and, thus, diminished or absent vestibular signals (Dhooge et al., 1998; Abadie et al., 2000; Morimoto et al., 2006). Vestibular anomalies are now accepted as a major diagnostic criterion for CS (Amiel et al., 2001; see Intro­ duction and Genetics) This loss of vestibular signals, together with vision loss of different degrees, will result in delayed motor milestones such as walking 65

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Figure 5–1.  Afferent and efferent systems of the eye, muscles, vestibular system, and brain.

and, later, severe balance problems, especially in darkness or poorly lit condi­ tions (Tsuzuku & Kaga, 1992). Ideally, the assessment of an individual should always include evaluations of the vestibular organs, the eyes, somatosensa­ tion, and the integration of these signals in the brain.

THE VESTIBULAR SYSTEM The vestibular system is not only a sensory system that has access to the cere­ bral cortex with conscious perception and memory, but also a system that regu­ lates body posture and eye position. Five different parts of the vestibular organ are of special importance (Figure 5–2): the utricular and saccular maculae and the three semicircular canals. The semicircular canals are oriented perpendic­ ular to one another in order to record all types of head movements: side-toside rotation, up-and-down nodding, tilting side to side, and combinations of these. The vestibular part of the inner ear, like the cochlea, contains hair cells and fluid (peri- and endolymph). The hair cells in the semicircular canals are

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5.  Overview of Balance and the Vestibular System      67

Figure 5–2.  The inner ear.

joined together in a “swinging door,” called the cupula, where they react with excitation (electrical impulses) in response to endolymph movements. When the head is turned, the flow of the endolymph in the semicircular canals will be clockwise in one ear and counterclockwise in the other. This will result in an excitation in one ear and an inhibition in the other, acting like a swing. The signals pass to the brainstem through the superior and inferior vestibu­ lar nerves, which lie alongside the auditory nerve. From there, the electrical impulses travel to the vestibular nuclei, which will pass the signal to the eyes and cerebellum. The reflex signal to the eye muscles (through cranial nerves III, IV, and VI) directs the eyes to move in the opposite direction and speed compared to the head. This vestibulo-ocular reflex (VOR, see Figure 5–3) is in place to keep a steady image on the retina as the head moves—the biologi­ cal equivalent of a steady cam. The result is that the eyes move slowly in the opposite direction of the head, and when they reach their maximal position to the side, a quick restoring eye movement moves the eye back to the cen­ tral position. This eye movement is named nystagmus. If this reflex is not functioning, as is the case with many individuals with CHARGE (Admiraal & Huygen, 1997; Wiener-Vacher, Amanou, Denise, Narcy, & Manach, 1999), the result will be that performing quick head movements will not produce nys­ tagmus, and the image will be blurry. The other pathway from the vestibular

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68     CHARGE SYNDROME

Figure 5–3.  The vestibular ocular reflex (VOR).

organ is through the cerebellum, which is the part of the brain that “organizes” movements to make them smooth. Malformations in the utriculus or saccu­ lus (the two other parts of the vestibular apparatus) will create imbalance and problems with starting and stopping movements (forward and backward). Interestingly, when the semicircular canals are absent, the individual is also not getting the feedback that causes dizziness and may enjoy spinning (Col­ lins & Buchman, 2002).

THE VISUAL SYSTEM The visual system can perform fast eye movements (saccades) to direct gaze and slow ones (smooth pursuit) to follow or scan. The aim of the saccades is to direct the gaze towards an object. Smooth pursuit refers to tracking: stabiliz­ ing a moving target on the fovea (retina) by producing eye velocities closely matching the target. Smooth pursuit works closely with the vestibular system, as described earlier. Smooth pursuit is most effective when tracking objects at

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5.  Overview of Balance and the Vestibular System      69

low frequencies and speed, like a bird or a person that moves slowly, while the vestibular system is most effective at high frequencies. In daily life activities, humans perform visual tracking using a combina­ tion of smooth pursuit, saccadic, and vergence eye movements (the eyes con­ verge on an object) together with the VOR. A person with CHARGE who has large colobomas (causing visual field defects) and vestibular areflexia (no ves­ tibular signals) will have significant difficulties in spotting and tracking a tar­ get. When moving the head, the eyes will not move correctly, and the visual image will not be located steadily on the same place in the retina.

THE SOMATOSENSORY SYSTEM The somatosensory system relates to multiple types of sensations in the body, including touch, pressure, pain, and muscle position. This system has a high degree of complexity, including utilizing contraction and relaxation in oppos­ ing muscle groups. Most of these reflexes work intimately with input from the vestibular and visual systems. For example, to stand on one foot, the body uti­ lizes information and feedback from the vestibular system, vison, muscles, and joints and continually makes small (muscle and joint) adjustments to remain stable. Many individuals with CS not only have vestibular and visual dysfunction but also additional cranial nerve pathologies that might result in decreased function in some facial and neck muscles (see Chapter 11).

THE CEREBELLUM The vestibular signals communicate with visual and somatosensory signals through the cerebellum in the back of the brain. The cerebellum often acts as an inhibitor on the vestibule-ocular reflex. Other locations in the brainstem compare and moderate the signals from these three systems. Coordination of these systems is crucial for the development of motor milestones (see Assess­ ment of Balance and Vestibular Function) in a small child (Satar, Mukherji, & Telian, 2003; Abadie et al., 2000. Findings suggest that persons with CS might have anomalies in the cerebellum in addition to the vestibular system, further complicating balance tasks (de Geuss et al., 2017; Wright, Rutledge, Doherty, & Perez, 2019). In addition to the three systems described earlier, delays in balance and gross motor functions may also be further affected by additional factors such as orthopedic abnormalities, including scoliosis, low muscle tone, and other neurological or brain anomalies (see Chapter 20). Magnetic resonance imaging (MRI) has shown that some persons with CS can have a variety of brain malformations, including agenesis of the corpus callosum (ACC) (de Geus et al., 2017; Wright, Rutledge, Doherty, & Perez,

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2019). The corpus callosum connects the left and right hemispheres of the brain. If the connections between the hemispheres are absent or diminished, there may be additional motor delays and large balance problems. ACC can also affect connections such as the visual and the auditory signals where the left and right part of the brain need even more cooperation. One speculation (clinical experience by the author) is that poor cooperation between the hemi­ spheres helps to explain the finding that children with CS often have better receptive than expressive language skills, whether they use speech or sign language.

ASSESSMENT OF BALANCE AND VESTIBULAR FUNCTION Identification and diagnosis of balance dysfunction are generally difficult. In adults, a very careful case history and a thorough battery of tests are required. In children, it is often difficult to get a good case history, and some tests can­ not be performed. Individuals with CHARGE typically have significant balance problems as a result of combinations of bilateral vestibular areflexia, deafness, decreased vision (deafblindness), sometimes weak muscles, and other complications. Most children with CS examined by this author (~40) have significantly delayed motor milestones (e.g., a walking age of 4 to 5 years is common). This is due at least in part to bilateral vestibular areflexia and deafblindness. Krivenki and Thelin (2009) evaluated 56 individuals with CS and 17 typically developing individuals. Of the subjects that could be tested, the VOR was absent in all individuals with CS and present in all typical individuals. Congenital nystag­ mus was present in 7 out of 42 individuals with CS (17%). It should be noted that nystagmus can also be of visual origin if there is extremely poor visual acuity. When a child is suspected of having a balance disorder, it is wise to develop a strategy of “down to earth questions,” balance assessment, and most importantly, observation of the child. One of the first symptoms in a young child with bilateral vestibular areflexia or severe vestibular dysfunction is delayed motor milestones. Many children with bilateral vestibular areflexia appear as “floppy infants,” which might lead to the suspicion of other CNS disorders. Following is a list of questions that are helpful in determining the causes of late motor milestones in children.

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5.  Overview of Balance and the Vestibular System      71

Examples of Questions to Determine Decreased or Absent Vestibular Function n At what age did the child lift the head, roll around? n At what age did the child sit unsupported? n At what age did the child start to crawl, and in what way? n At what age did the child walk unsupported? n Did the child experience difficulties in learning to ride a

bicycle? n Does the child have problems when walking in darkness

and on uneven surfaces? n Does the child experience motion sickness? n Does the child have problems in gymnastics and sports

activities? n Is the child considered to be clumsy?

ASSESSMENT Balance assessment is, of course, dependent on the age of the child, and many tests can be performed from a very early age. MRI of the temporal bones should be done to determine the presence or absence of vestibular apparatus and cra­­ nial nerves (de Geus et al., 2017). A thorough ear, nose, and throat evalua­ tion is mandatory, along with assessment of cranial nerves, muscles, and deep tendon reflexes. The assessment performance in young children shows a large variation and depends on cooperation between the examiner, the child, and the parent. This, of course, applies even more so in children with CHARGE, many of whom have additional medical and communication issues that delay development and make testing more challenging. Standing on two legs positioned closely together with closed eyes is very difficult to do if there is a bilateral vestibular loss; standing on one leg with closed eyes is impossible. Observation of the child during daily activities in different settings and a variety of lighting conditions with different visual, vestibular, and somatosen­ sory stimuli can be time consuming, but helpful (Ayres, 1979). For instance,

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very young children with CS prefer to scoot on their backs or crawl with their heads down on the ground. This is probably due to the vestibular issues combined with reduced vision. Older children have difficulty walking on uneven ground, performing certain tasks like walking on a beam (even with good vision), or learning to ride a bicycle. However, since they do not get dizzy, they may be able to twirl around or ride a merry-go-round for long periods of time. Specialized laboratory procedures are enumerated in Table 5–1. Since imaging of the temporal bones usually shows malformed or even absent semi­ circular canals, further testing is indicated when it is important to know whether one or both sides are affected and whether the individual has some or no function.

Table 5–1.  Laboratory Tests of Vestibular Function Laboratory Test

Description

Video-oculography (videonystagmography, VNG)

The VNG is a procedure in which infrared cameras are fitted in light-occluding goggles to record eye movements from voluntary control of the eyes and, more importantly, from stimulation of the vestibular system. With VNG, a rapid screening can be performed by rotating a patient in a chair. If no nystagmus is observed during rotation, there is a strong indication of bilateral vestibular areflexia.

Video Head Impulse Test (VHIT) to test VOR

The VHIT uses the video-oculography technique in order to assess how parts of the vestibular organ are working. It tests the horizontal semicircular canal and how it responds to rapid motion of the head and directing the movement of the eyes to stabilized visual images when the head is in motion (vestibule-ocular reflex, VOR). Goggles record eye movements when the head is accelerated from mid-position on one side and then the other. The video camera is connected to a computer that can assess the eye movements and calculate if there are any differences between the left and the right ear. This is a good screen to determine if the vestibular organs are working. This test can be performed in children from the age of 5 to 6 years.

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Table 5–1.  continued Laboratory Test

Description

Vestibular-evoked myogenic potentials (VEMP)

The otolith organs (utricle and saccule) are sensors for detecting acceleration in their respective planes: utricle detect motions in the horizontal plane (forward/backward), and saccule detect motions in the sagittal plane (up/down). When stimulating the ear with a loud sound, the balance organ (saccule) responds with a reflex to the neck muscles, giving rise to a weak signal recorded with surface electrodes. This reflex is mediated through the inferior vestibular nerve and can give some indications of whether the saccule is working or not. This test can be performed in small children.

Bithermal binaural caloric tests

The caloric test is used to determine if the horizontal semicircular canal is capable of detecting the motion of the head and directing the movement of the eyes to stabilized visual images when the head is in motion (vestibulo-ocular reflex [VOR] function). The test is performed by injecting warm and cool water into ear canals (with intact eardrums) and measuring changes in eye movement. The test is challenging because the examinee must remain still while warm and cool water is injected into the ear canals. If the VOR is intact, this will also cause vertigo. This test can seldom be done with accuracy in children younger than 6 years.

Rotatory tests

These are VNG tests in which the individual being evaluated is seated either with goggles in a rotating chair in the office or in a completely darkened chamber with infrared TV cameras. The VOR is tested by measurement of eye movements in response to rotational stimulation. It is an excellent detector of bilateral vestibular loss. It can be done with a baby seated on the lap of an adult.

Ocular tracking

There are several mechanisms that control ocular movement that can be evaluated by recording eye movements while the eyes focus on targets. These tests are primarily used to evaluate neural, vestibular, and ocular pathways and the cerebellum. continues

73

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74     CHARGE SYNDROME Table 5–1.  continued Laboratory Test

Description

Dynamic posturography (balance and stability while in motion)

This is a highly structured test in which the balance of a person who is standing without assistance is challenged by denying vision, or giving false visual information and permitting the floor to tilt. It is used to assess the utilization of visual, vestibular, and sensory systems to maintain balance. This form of evaluation has great value in the assessment of individuals who are able to stand independently. This test can be quite accurately performed in children from the age of 8 to 9 years.

New tests

Though they are still under construction, new tests seek to use virtual reality to create certain situations where balance can be assessed.

BALANCE AND COMMUNICATION Clinical observation studies in individuals with CHARGE have indicated that the ability to walk correlates with communication skills (Salem-Hartshorne & Jacob, 2004; see Chapter 18). This is not surprising given the effect of colobo­ mas, which typically interfere with the upper visual field. As individuals with CS learn to compensate for balance deficiencies, head movements can bet­ ter compensate for the visual impairment. Davenport (2002) suggested that individuals who are deafblind will only be able to communicate within their particular “communication bubble”—the area in which they are able to see and hear well enough to interact (see Chapter 1). Being able to walk creates the ability to make adjustments to hear and see the surroundings—whereas those who cannot walk independently must accept the communication con­ ditions without making adjustments.

CONCLUSION Objective testing of balance problems and vestibular function in children and adults with CHARGE is very helpful to get a complete picture of the difficul­ ties. A thorough case history, along with clinical tests and information from the visual examination, will facilitate a medical and functional diagnosis of the balance issues.

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REFERENCES Abadie, V., Wiener-Vacher, S., Morisseau-Durand, M. P., Porée, C., Amiel, J., Amanou, L., . . . Manac’h, Y. (2000). Vestibular anomalies in CHARGE syndrome: Investigations on and consequences for postural development. European Journal of Pediatrics, 159(8), 569–574. Admiraal, R. J. C., & Huygen, P. L. M. (1997). Vestibular areflexia as a cause of delayed motor skill development in children with the CHARGE association. International Journal of Pediatric Otorhinolaryngology, 39(3), 205–222. Amiel, J., Attiee-Bitach, T., Marianowski, R., Cormier-Daire, V., Abadie, V., Bonnet, D., . . . Lyonnet, S. (2001). Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome. American Journal of Medical Genetics, 99(2), 124–127. Ayres, J. (1979). Sensory integration and the child. Los Angeles, CA: Western Psycho­ logical Services. Collins, W. O., & Buchman, C. A. (2002). Bilateral semicircular canal aplasia: A char­ ac­teristic of the CHARGE association. Otology and Neurotology, 23(2), 233–234. Davenport, S. L. H. (2002). Influence of sensory loss on development: The commu­ ni­cation bubble. In M. Hefner & S. L. H. Davenport (Eds.), CHARGE syndrome: A management manual for parents. Columbia, MO: CHARGE Syndrome Foundation. de Geus, C. M., Free, R. H., Verbist, B. M., Sival, D. A., Blake, K. D., Meiners, L. C., & van Ravenswaaij-Arts, C. M. (2017). Guidelines in CHARGE syndrome and the miss­­ ing link: Cranial imaging. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(4), 450–464. Dhooge, I., Standaert, L., Lemmerling, M., Govaert, P., Lagache, M., & Mortier, G. (1998). Otological manifestations of CHARGE association. Annals of Otology, Rhinology and Laryngology, 107(11), 935–941. Krivenki, S. E., & Thelin, J. W. (2009). Vestibulo- and cervico-ocular reflexes in CHARGE syndrome. Reston, VA: American Academy of Audiology. Morimoto, A. K., Wiggins, R. H., Hudgins, P. A., Hedlund, G. L., Hamilton, B., Mu­­ kherji, S. K., . . . Harnsberger, H. R. (2006). Absent semicircular canals in CHARGE syndrome: Radiologic spectrum of findings. American Journal of Neuroradiology, 27(8), 1663–1671. Salem-Hartshorne, N., & Jacob, S. (2004). Characteristics and development of children with CHARGE association/syndrome. Journal of Early Intervention, 26(4), 292–301. Satar, B., Mukherji, S. K., & Telian, S. A. (2003). Congenital aplasia of the semicircular canals. Otology and Neurotology, 24(3), 437–446. Tsuzuku, T., & Kaga, K. (1992). Delayed motor function and results of vestibular func­ tion tests in children with inner ear anomalies. International Journal of Pediatric Otorhinolaryngology, 23(3), 261–268. Wiener-Vacher, S. R., Amanou, L., Denise, P., Narcy, P., & Manach, Y. (1999). Vestibu­lar function in children with the CHARGE association. Archives of Otolaryngology— Head and Neck Surgery, 125(3), 342–347. Wright, J. N., Rutledge, J., Doherty, D., & Perez, F. (2019). Cerebellar heterotopias: Expanding the phenotype of cerebellar dysgenesis in CHARGE syndrome. American Journal of Neuroradiology, 40(12), 2154–2160.

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CHAPTER 6

Understanding the Tactile System JUDE NICHOLAS

INTRODUCTION Multisensory impairment is common in individuals with CHARGE syndrome (CS). These sensory deficits include compromised vision, hearing, vestibular functioning, olfaction, gustation, and sense of touch. The sense of touch in individuals with CS may be impaired due to nerve disruptions, brain malfor­ mations, or epileptic seizures. Individuals with CS may exhibit irregularities in their tactile sensory functions, such as trying to limit the tactile sensory input they must deal with (tactile defensiveness) or displaying difficulties in perceiv­ ing touch, pressure, and proprioception (Brown, 2005). Although the sense of touch might be compromised in CS, it is important to have a pragmatic under­ standing of how the tactile system functions and how tactile information is processed. The tactile system that includes the sense of touch is a complex system that responds to changes at the surface or inside of the body. The tactile sys­ tem is the part of the nervous system that is responsible for sensing, perceiv­ ing, systematically organizing, and integrating tactile information. Although each of our sensory systems can operate independently, there is evidence that the representation of tactile information interacts with visual 77

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and auditory information, suggesting that multisensory integration networks play a leading role in the brain (Bizley & King, 2012). The tactile system is highly dynamic, constantly reorganizing itself and capable of being shaped and reshaped across the entire life span. This lifelong capacity of the nervous system to change and rewire itself in response to the stimulation of learning and experience is known as neuroplasticity. Plasticity changes with learning have been observed in the tactile sensory system (Ostry & Gribble, 2016). Other studies have shown that the tactile brain area is clearly capable of neuroplasticity in response to intense tactile training in normal subjects (Saito, Okada, Honda, Yonekura, & Sadato, 2006). Neuroplasticity follow­ ing sensory deprivation has also been demonstrated. For instance, a neuroimag­­ ing study has shown experience-based neural plasticity in the tactile brain area of people with blindness ( Wong, Gnanakumaran, & Goldreich, 2011). Sig­­ nificantly, another study showed differences in the tactile brain organization between children with hearing and vision loss and a control group of seeing and hearing children (Charroó-Ruíz et al., 2012). The authors suggested that a possible interpretation of this finding could be that with simultaneous loss of hearing and vision at very early stages of neural development, the sense of touch may acquire a more important role in children’s communication with their surroundings. Understanding the interrelated functions of the tactile system can lead to strategies that support access to tactile information and create personalized tactile strategies that may enhance perceptual, communicative, cognitive, and language abilities in individuals with CHARGE.

INTERRELATED FUNCTIONS OF THE TACTILE SYSTEM The tactile system is also referred to as the somatosensory system (the word soma is the Greek word for “body”). This system is concerned with the con­ scious perception of different types of bodily sensations received from the surface or inside of the body. These bodily sensations are formed from several physical sensations and are controlled by a huge network of nerve endings, neural fibers, and specialized sensory receptors in the skin, joints, limbs, and muscles. The tactile system tells us what the body is up to and what is happen­ ing in the environment by providing information about these different bodily sensations. The organization of the tactile system is unique and quite distinct from that of the other senses. Other sensory systems have their receptors localized to a single organ, where they are present at a high density (e.g., the eye for the visual system, the ear for the auditory system). In contrast, tactile sensory receptors are distributed throughout the body. For instance, bodily sensations received from the skin receptors (mechanoreceptors), temperature receptors (thermoreceptors), pain receptors (nociceptors), and receptors in the joints

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Figure 6–1.  The sense of touch comprises the processing of many different bod­ ily sensations such as light touch, pressure, vibration, temperature, pain, proprio­ ception, and pleasant touch.

and muscles (proprioceptors) arrive to the brain via separate ascending path­ ways up the spinal cord. The bodily sensations are organized into four groups. The first group is that of discriminative touch and involves light touch, pressure, and vibration. The second group involves temperature and pain; the third group involves proprioception. Recent evidence has provided insight on the bodily sensations that influence pleasant touch. Specific nerve fibers that innervate the skin and react to slow, gentle touches have been linked to pleasant touch (Löken, Wess­ berg, Morrison, McGlone, & Olausson, 2009; Perini, Olausson, & Morrison, 2015). See Figure 6–1. Pleasant touch is referred to as an emotional form of touch that transmits socially relevant information and relies on bodily contact. This form of touch is usually social in nature and is important during both infant development and adult social interaction. While light touch is involved in sensing and localizing touch, the proprio­ ceptive sense allows us to appreciate postural changes even in the absence of visual information. It is the sense that lets us perceive the location, move­ ment, and action of parts of the body. Proprioception is necessary to sense the body’s position and motion in space and allows us to move quickly and freely without having to consciously think about where we are in our envi­ ronment (see Chapter 7). The multiple types of bodily sensations that are received from the sur­ face or inside of the body are conveyed via pathways in the spinal cord and have different targets in the brain depending on the information carried. The somatosensory cortex in the parietal lobe is the crucial brain structure respon­ sible for processing the different types of bodily sensations. The somatosen­ sory cortex is often referred to as the tactile brain. A prominent feature of the somatosensory cortex is its somatotopic orga­ nization, such that the body’s surface is mapped across the parietal lobe and

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corresponds point-for-point with the body’s topography. In other words, the brain maintains a complete neural map of our body’s surface, with patches devoted to each finger, hand, cheek, lip, eyebrow, shoulder, hip, knee, and all of the rest. These neural body maps are an important part of how we build up an implicit sense of ourselves through the sense of having a body and feeling our body move. This map is our primary physical window to the world around us, the entry point for all of the raw touch information streaming moment by moment into our brain (Blakeslee & Blakeslee, 2007). These neural maps in the tactile brain are highly plastic and can be greatly altered depending on our experience. Developmental studies have shown that neural maps emerge very early in human development. Research on the somatotopic organization during tac­­ tile stimulation in infants provided evidence of neural body maps in 7-monthold infants (Marshall & Meltzoff, 2015). Similarly, a study on infant brain responses during felt touch (infants were touched on the hand or foot) and observed touch (infants observed someone else’s hand or foot being touched), showed different brain activation patterns. During felt touch the somatosen­ sory cortex was activated, while during observed touch both the visual and the somatosensory cortex were significantly activated (Meltzoff et al., 2018). These findings shed light on aspects of early social interaction with others through the tactile modality, including action, imitation, and empathy, which may build, at least in part, on infant neural representations that map equiva­ lences between the bodies of self and other. To sum up, the tactile system is a sophisticated and interrelated informa­ tion processing system that works in concert with the different bodily sensa­ tions, emotions, and complex cognitive processes such as working memory, memory, and executive functions. The tactile system is linked to tactile per­­ ception (Filingeri, Fournet, Hodder, & Havenith, 2014), basic emotions (Paw­ ling, Trotter, McGlone, & Walker, 2017), tactile-based language (Osaki et al., 2004), and tactile cognitive processes (Gallace & Spence, 2009; Katus, Mül­ ler, & Eimer, 2015; Nicholas, Johannessen, & van Nunen, 2019). Furthermore, research indicates that early social interaction involves the tactile brain, thus emphasizing the importance of early touch for infants and children.

HOW DO WE PROMOTE TACTILE ACTIVITY PARTICIPATION AND ENHANCE THE TACTILE EXPERIENCES OF CHILDREN WITH CHARGE? Supporting Early Social Interaction Using Touch An individual with CHARGE likely has significant multiple sensory deficits and immediate and lasting challenges in many areas of learning and development.

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Supporting social interaction from an early age using touch may have a ben­ eficial effect on the development of communication and may play a critical role in language acquisition (see Chapters 24–26). The following are some examples of early social interaction involving the sense of touch. These early fundamental communication skills include scaffolding, shared attention, joint attention, and reciprocity and turn-taking: n Scaffolding (supporting an individual to develop skills that are at

a level just above their current developmental level): For example, when a hand drum is introduced, the interaction partner models the purpose of the drum by playing it in a way that the child with CS can feel their movements. The child can rest his/her hands on the hands of the interaction partner in order to feel the motion and the vibration of the drum. By providing this scaffolding format, the child with CS may feel stimulated and take further initiatives to play on the hand drum. n Mutual attention (sharing attention to each other or to a shared

activity): The child with CS and the interaction partner touch the same thing (such as a tree) at the same time, together, in a bodily tactile manner. n Joint attention (directing the child’s attention toward the action of

others and helping engage the child in goal-related and intentional communication): When the child with CS is exploring a tree, the interaction partner shares their attention by also touching the tree and the hands of the child, showing that they are both interested in the same object. Furthermore, the partner mirrors the actions and movements of the child. Eventually, the child directs his/her own attention to the actions of the interaction partner by mirror­ ing the same actions and movements in a bodily tactile manner. n Reciprocity and turn-taking (establishing a balanced participation

between the two partners): The interaction partner sings and tac­ tually signs a song for the child with CS. At the end of the song, the partner pauses, changes hand positions, and waits for the child to contribute to the ongoing activity. Eventually, the partner imitates the bodily tactile gestures and attempts to get a turn-taking interac­ tion going.

Providing Tactile Sensory Stimulation and Tactile Perceptual Strategies Many individuals with CHARGE may exhibit irregularities in their tactile sen­ sory functions in the course of development.

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When a child with CS is displaying tactile defensiveness, it is important to try to limit the overwhelming tactile sensory information and to understand the child’s touch preferences (e.g., firm touch). Allowing the child to choose sensory experiences or creating “sensory diets” for the child may be beneficial for overcoming tactile defensiveness. A “sensory diet” refers to a list of recom­ mended activities and modifications based on the child’s daily sensory needs, such as the use of a trampoline, a sandbox, simple exercises, finger-fidgeting, and applying a weighted vest or blanket (Nackley, 2001). When a child with CHARGE has poorly developed proprioception, it is necessary to provide opportunities for proprioceptive stimulation, such as activities that involve stretches, twists, and moving through space. Such activi­ ties relay proprioceptive information to the tactile brain area and enhance the child’s body awareness (see Chapter 7). When hearing and vision are both affected, there is a high likelihood that the processing of information will be fragmented. Use of tactile sense for information may expand the learners’ experience of the world and their envi­ ronmental awareness. Simply engaging in everyday activities that allow for active touch and motion allows for healthy development of the tactile sense. Individuals with CHARGE benefit from rich tactile environments, tactile activities, and experiences in the classroom and at home that allow them to make the best use of their bodily tactile sense. Tactile perceptual strategies that encourage the learner with CS to utilize active touch and motion to access information from the surroundings and to interpret it within the framework of existing knowledge will help create unique tactile experiences, promote multisensory integrative capabilities, and strengthen neuroplasticity in the tac­­ tile system.

Examples of Tactile Perceptual Strategies n Tactilely examine a pumpkin together as two people ex­

plore the relatively smooth parts of the skin and find the stem, leaf, and vine with their hands n Tactilely identify a location by moving and exploring to­

gether the immediate surroundings (wall, kitchen counter, and cupboards) n Support the child to tactilely estimate the distance between

objects (how near or far the kitchen counter is located) n Assist the child to identify a tactually accessible pathway and

navigate towards a specific location (how to navigate to­ wards a kitchen counter)

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Accommodating Different Tactile-Based Communication or Language Approaches The use of tactile communication methods or language approaches can be helpful for a child with CHARGE. The following are some examples of tactilebased communication or language approaches: n Touch cues/body signs: Consistent use of touch or sign is made

directly on the child’s body to communicate with them (Deuce & Rose, 2019). n Haptic sign/gesture: Touch is used to communicate through agreed

touch points and in some instances “drawing” onto the body (Lah­­ tinen, 2008; Raanes & Berge, 2017). n Co-active signing: This is physically taking the learner’s fingers or

hands, in a respectful and sensitive manner, to support them to pro­ duce a standard manual sign. Through this, the child experiences how to make the sign and learns the hand and finger positions (Deuce & Rose, 2019). n Tactile signing (sometimes called “hands-on” signing or “hand-over-

hand”/“hand-under-hand” signing): This is based on an existing sign language or other manual communication mode and involves the use of active touch and motion. This involves the receiver placing their hands directly over the speaker’s hands to feel the shape, posi­ tion, and movement of the signs (Deuce & Rose, 2019; Miles, 1997). n Tactile language: This is the development of a language in the tac­

tile modality that emerges in the complex interactions between two or more communication partners. When the bodily tactile com­ municative expressions are easily recognized and understood, and when a linguistic value is added to those bodily tactile communica­ tive expressions, it is possible to communicate linguistically with an individual who has combined visual and hearing impairments (Ivanova, 2019).

Mediating Effective Cognitive Strategies in the Tactile Modality The learner with CHARGE needs an interaction partner who can clearly medi­ ate individual cognitive strategies in a smooth manner during tasks, activities, and interpersonal interactions. The use of specific cognitive strategies within a bodily tactile modality can enhance cognitive functions. Tactile cognitive strategies may help to make associations between what one already knows

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and the new information (association strategy), to keep information active according to the needs of the moment (rehearsal strategy), and to create a story to link together information one wants to remember (narrative memory strategy). The following are some examples of the different tactile cognitive strategies: n Association strategy: How does the child with CS who has a basic

understanding of a tree within the bodily tactile modality under­ stand a bush or roots? A bush has aspects like a tree, and so in this case the child and his interaction partner must tactually explore the leaves and branches of the bush. The bush is also like a wall, and in this case the child and his interaction partner must trail along the edge to find the opening. Thus, the bush is a “tree-wall.” The same scenario is true for roots, as they are the things that trees stand on and connect the tree to the ground. Thus, roots become “tree feet,” and a windblown tree with exposed roots becomes a “fallen tree with feet.” n Rehearsal strategy: Through a tactile spatial rehearsal strategy, the

attention of the child with CS becomes focused in a purposeful manner that results in automaticity and better recall. For instance, during tactile signing, the interaction partner and the child may con­ tinuously repeat the to-be-remembered bodily tactile information by rehearsing several times the same movements, handshape, orien­ tation, and locations on each other’s bodies with the same intensity and extension. n Narrative memory strategy: A personally experienced story plays

an important role in the formation of autobiographical memory, in which memories are combined into a coherent life story. This per­­ sonal narrative format helps to maintain a whole episode and not just fragments of scenes. In other words, narratives are not a biog­ raphy of facts and events in a person’s life story, but rather the way in which these facts and events are internally integrated, or picked apart and woven together again to create meaning. Success in devel­ oping autobiographical memories depends primarily on how the interaction partner can expose the child with CS to active learning experiences and provide contexts for shared activities. Providing the child with an efficient use of a narrative memory strategy that links autobiographical information in a purposeful manner may result in better memory recall and recognition. A study of a person with combined visual and hearing impairment showed that taking an active learning experience approach can aid in providing shared authentic memorable experiences and facilitating the construction of autobiographical memories in the bodily tactile modality (Gib­ son & Nicholas, 2018).

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CONCLUSION It is critical to note that while every person with CHARGE syndrome has dif­ ferent features and abilities (Hartshorne, 2011), most have combined visual and hearing loss and only receive limited and distorted information through their compromised senses of sight and hearing. Individuals with CS who have difficulties using their vision and hearing effectively may require bodily tac­­ tile information for early social interaction, communication, language, and cog­ nitive development. The tactile system provides us with information that is required for every activity of daily life from infancy to adulthood. Although the sense of touch might be compromised, individuals with CS benefit from inter­ ventions that promote the development of perceptual, cognitive, communica­ tive, and language abilities in the tactile modality. Such interventions will help strengthen neuroplasticity in the tactile system. Neuroscientific studies sug­ gest that the tactile system retains a high degree of neuroplasticity, which can occur with increased experience within the tactile modality.

REFERENCES Bizley, J. K., & King, A. J. (2012). What can multisensory processing tell us about the functional organization of auditory cortex? In M. M. Murray & M. T. Wallace (Eds.), The neural bases of multisensory processes. Boca Raton, FL: CRC Press/ Taylor & Francis. Blakeslee, S., & Blakeslee, M. (2007). The body has a mind of its own: How body maps in your brain help you do (almost) everything better. New York, NY: Ran­ dom House. Brown, D. (2005). CHARGE syndrome “behaviors”: Challenges or adaptations? American Journal of Medical Genetics Part A, 133(3), 268–272. Charroó-Ruíz, L. E., Pérez-Abalo, M., Hernández, M., Álvarez, B., Bermejo, B., Bermejo, S., & Díaz-Comas, L. (2012). Cross-modal plasticity in Cuban visually-impaired child cochlear implant candidates: Topography of somatosensory evoked potentials. MEDICC Review, 14(2), 23–29. Deuce, G., & Rose, S. (2019). Sign acquisition in children who are deafblind. In N. Grove & K. Launonen (Eds.), Manual sign acquisition in children with developmental disabilities (pp. 175–193). New York, NY: Nova Science Publishers. Filingeri, D., Fournet, D., Hodder, S., & Havenith, G. (2014). Why wet feels wet? A neurophysiological model of human cutaneous wetness sensitivity. Journal of Neurophysiology, 112(6), 1457–1462. Gallace, A., & Spence, C. (2009). The cognitive and neural correlates of tactile mem­ ory. Psychological Bulletin, 135(3), 380–406. Gibson, J., & Nicholas, J. (2018). A walk down memory lane: On the relationship between autobiographical memories and outdoor activities. Journal of Adventure Education and Outdoor Learning, 18(1), 15–25.

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86     CHARGE SYNDROME Hartshorne, T. S. (2011). Behavioral phenotype in CHARGE syndrome. In T. S. Harts­ horne, M. A. Hefner, S. L. H. Davenport, & J. W. Thelin (Eds.), CHARGE syndrome (pp. 317–326). San Diego, CA: Plural Publishing. Ivanova, N. (2019). On language development in children with congenital deafblind­ ness. In M. Creutz, E. Melin, C. Lindström, K. S. Brede, & H. B. Selling (Eds.), If you can see it, you can support it. Stockholm, Sweden: Nordic Welfare Centre. Katus, T., Müller, M., & Eimer, M. (2015). Sustained maintenance of somatotopic infor­ mation in brain regions recruited by tactile working memory. Journal of Neuroscience, 35(4), 1390–1395. Lahtinen, R. (2008). Haptices and haptemes. A case study of developmental process in touch-based communication of acquired deafblind people [Doctoral disserta­ tion, University of Helsinki]. Open Access Theses and Dissertations. Löken, L. S., Wessberg, J., Morrison, I., McGlone, F., & Olausson, H. (2009). Coding of pleasant touch by unmyelinated afferents in humans. Nature Neuroscience, 12(5), 547–548. Marshall, P. J., & Meltzoff, A. N. (2015). Body maps in the infant brain. Trends in Cog­ nitive Sciences, 19(9), 499–505. Meltzoff, A. N., Ramírez, R. R., Saby, J. N., Larson, E., Taulu, S., & Marshall, P. J. (2018). Infant brain responses to felt and observed touch of hands and feet: A MEG study. Developmental Science, 21(5), 57–65. Miles, B. (1997). Talking the language of the hands to the hands: The importance of hands for the person who is deaf-blind. DB-LINK: The National Information Clear­­ inghouse on Children Who Are Deaf-Blind. Sands Point, NY: National Center on Deaf-Blindness. Nackley, V. L. (2001). Sensory diet applications and environmental modifications: A winning combination. Sensory Integration Special Interest Section Quarterly, 24(1), 1–4. Nicholas, J. T., Johannessen, A. M., & van Nunen, T. (2019). Tactile working memory scale—Professional manual. Stockholm, Sweden: Nordic Welfare Centre. Osaki, Y., Doi, K., Takasawa, M., Noda, K., Nishimura, H., Ihara, A., . . . Hatazawa, J. (2004). Cortical processing of tactile language in a postlingually deaf-blind subject. Neuroreport, 15(2), 287–291. Ostry, D. J., & Gribble, P. L. (2016). Sensory plasticity in human motor learning. Trends in Neurosciences, 39(2), 114–123. Pawling, R., Trotter, P. D., McGlone, F. P., & Walker, S. C. (2017). A positive touch: C-tactile afferent targeted skin stimulation carries an appetitive motivational value. Biological Psychology, 129, 186–194. Perini, I., Olausson, H., & Morrison, I. (2015). Seeking pleasant touch: Neural corre­ lates of behavioral preferences for skin stroking. Frontiers in Behavioral Neuroscience, 9, 8. Raanes, E., & Berge, S. S. (2017). Sign language interpreters’ use of haptic signs in interpreted meetings with deafblind persons. Journal of Pragmatics, 107, 91–104. Saito, D. N., Okada, T., Honda, M., Yonekura, Y., & Sadato, N. (2006). Practice makes perfect: The neural substrates of tactile discrimination by mah-jong experts include the primary visual cortex. BMC Neuroscience, 7(1), 79–83. Wong, M., Gnanakumaran, V., & Goldreich, D. (2011). Tactile spatial acuity enhance­ ment in blindness: Evidence for experience-dependent mechanisms. Journal of Neuroscience, 31(19), 7028–7037.

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CHAPTER 7

Consequences of Vestibular and Proprioceptive Dysfunction DAVID M. BROWN

INTRODUCTION In view of the high incidence of significant vestibular and proprioceptive issues in children with CHARGE syndrome (CS), and considering the crucial importance of these two sensory systems for early development and ongoing functioning, it is remarkable that so little attention has been paid to them and so little research carried out. CS is truly a deafblind or multisensory impair­ ment (MSI) syndrome in which the functioning of every sensory system is likely to be compromised for some reason or another (Brown, 2005; Daven­ port & Hefner, 2011; Williams & Hartshorne, 2005). There are specific anoma­ lies in some sensory systems (i.e., the vestibular sense, vision, hearing, and smell), while other senses (i.e., taste, touch, pain, and proprioception) appear to be suppressed or underfunctioning as a result of the anomalies in other sensory systems. This is because all of our senses are designed to develop and function simultaneously in association with each other. Research on sensory loss in CS has primarily focused on vision and hearing loss, and to a lesser degree on the tactile sense to provide compensatory inputs. Because the proprioceptive and vestibular senses are not very well known or understood, 87

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the impact of anomalies in these two senses on the development and behav­ ior of the children is easily overlooked. These two senses are of immense importance for all aspects of development, but research on their involvement in CS is scarce (Ayres, 1979). In spite of this, and although such research is urgently needed, it is true that “a substantial portion of the body of knowl­ edge about the consequences of vestibular dysfunction in CHARGE has been obtained by perceptive observation and not with objective tests” (Thelin, Curtis, Maddox, & Travis, 2011, p. 60). If we observe children closely, paying particular attention to their postural behavior and to the sensory stimulation activities in which they indulge, we can gain considerable understanding of the challenges presented by poor proprioceptive and vestibular functioning (Minvielle, 2016). Such observation can also reveal the ingenuity, creativity, and perseverance demonstrated by the children in working against and over­ coming these challenges (Brown, 2013). The challenges are so significant that “these individuals have to fight every minute to keep track of what is happen­ ing around them” (Souriau et al., 2005).

THE PROPRIOCEPTIVE SENSE The way we can “feel” where all our body parts are in relation to each other (and also “see” them in our mind’s eye), without actually having to touch them with a hand or look at them with our eyes, is an ability that we get from our proprioceptive sense. Most people are not familiar with this sense, and they use the single word “touch” to include several different sensory systems, including proprioception as well as perception of touch, pain, temperature, and vibration. In fact, touch is a system that provides us with so many differ­ ent forms of information, with so many complex elements, that some writers have claimed that “it may actually be misleading to speak of a distinct ‘sense of touch’” (McLinden & McCall, 2002, p. 25), so that a better label to use might be somatosensory system (Möller, 2011). Other writers have claimed that proprioception is actually a specialized variation of the sense of touch that encompasses the sensations of joint motion (kinesthesia) and joint position (joint position sense) (Lephart & Borsa, 1993). Proprioception and Muscle Tone The proprioceptive receptors are located throughout the muscles and joints of the body, and they are stimulated by compression, stretching, and twist­ ing (Brown, 2006). These receptors need a regular range of muscle tone and movement to develop and function effectively. The low muscle tone typical in children with CHARGE results from a complex combination of significant vestibular dysfunction compounded by visual impairment, breathing diffi­­cul­

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ties, postural insecurity, and fatigue, along with possible absence or malforma­ tion of certain muscle groups, increased joint laxity and hypermobility, and possible anomalies in the muscle fibers (Haibach, 2011; Williams, 2011). Poor proprioceptive feedback results in the child not knowing where their body is or what it is doing and also makes it difficult to know how to use the right amount of force when performing motor skills. As a result of all these factors, it is not surprising that children with CS syndrome should show poor body awareness and great difficulties with postural control against gravity. Limited movement caused by lack of motivation and fear of falling (greatly compounded by the accompanying vestibular problems) further delays the development of effective muscular strength and motor coordination. We must also remember that issues like breathing difficulties, poor nutrition, pain, chronic constipa­ tion, and disturbed sleep patterns may also contribute to anxiety and delayed motor skills. The Vestibular Sense While our other sensory systems provide information about ourselves or about the environment around us, the vestibular system is unique in providing a con­ tinuous flow of information about the “fit” between the two, the person and the environment. It tells a person how they are interacting in the environ­ ment, and it enables them to remain oriented in space and in time. Among other things, the vestibular sense tells us about the position of our heads in relation to the pull of gravity, tells us which way is “up,” and detects head motion. Consequently, it monitors and directs muscular activity and body posi­ tion to maintain secure and functional postures whatever we are doing, working very closely with the touch and proprioceptive senses. It also has very close links with the visual sense, notably controlling a reflex (i.e., the vestibuloocular reflex [VOR]) that stabilizes the fixation point of the eyes when the head moves, which enables us to maintain a stable visual image of the world as we move our heads. Möller (Chapter 5) refers to the VOR as “the biological equivalent of a steady cam.” Absence of the VOR requires the children to fix the body and the head as securely as possible when they wish to use vision, particularly for extended attention such as watching a film, or for fine visual attention such as reading. Many of the postures commonly adopted in these situations can be considered as following the rule of fixing the body to fix the head to fix the eyes (Brown, 2010). Since the vestibular system only provides information about the position and movement of the head, it relies on well-integrated links with the proprio­ ceptive and visual senses to facilitate postural adjustments in the rest of the body. If the vestibular system is not working, then the proprioceptive and visual senses can, with great conscious effort, be made to compensate to some extent and provide a degree of postural control and security (Brown, 2007; Williams & Hartshorne, 2005). Of course, all three of these sensory systems

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are likely to be impaired to some extent in the majority of children with CS. Yet, remarkably, through a process of trial and error, most of the children dis­ cover and perfect these compensatory strategies for their own purposes from a surprisingly early age. Posture, Movement, and Motor Control Outside the field of CS, the most interesting and instructive information about loss of proprioceptive perception can be found in two books (Cole, 2016; Cole & Cole, 1995) which present case studies of a patient and detail his struggles to overcome the disability. The narrative describes the patient’s experiments to focus on other sensory systems, especially the touch, temperature, and visual senses, to compensate for the lack of proprioceptive information from his body. The patient eventually becomes so adept at this that one of the chapters in the books is titled, “The physiology of cheating” (Cole & Cole, 1995, p. 122). This chapter title nicely parallels the frequently heard statement that chil­ dren with CS often fool people into thinking that their sensory issues are less severe than they actually are because of the brilliant adaptive abilities that they have developed. Since a secure sense of equilibrium against gravity depends on the vestibu­ lar, proprioceptive, and visual senses all working alongside each other, it is not surprising that one of the most strikingly evident and common consequences of the CHARGE sensory impairments is delayed motor skills with unusual and persistent postural behaviors. If these behaviors are observed through a sensory diet perspective (analyzing what senses the children are stimulating through their chosen postures and movements), they make perfect sense as functional and adaptive behaviors. Classic early posture in CS is characterized by low muscle tone and a strong preference for lying on the back, minimizing the challenge of gravity. When the child begins to move, the most common styles used are back scooting and rolling or sidewinding. As the child’s strength, postural control, and confidence increase over time, butt scooting and/or fivepoint crawling are commonly added to the child’s motor repertoire. It is pos­ sible, but more unusual, to see children doing traditional crawling with the head raised. In most cases, independent walking is eventually attained, some­ times after several years and a great deal of specialist help and encouragement. Some classic therapeutic activities include hydrotherapy, hippotherapy, deep pressure massage, trampolining, and adaptive physical exercise. The use of walk­ ers of various kinds, and the provision of hiking poles, is also often reported to be helpful. It must be remembered that every child begins to walk inde­ pendently at exactly the right moment, once the child has the ability and the confidence that such a thing is possible. Walking is often characterized by widely spaced feet sliding along the floor with a rolling gait. Because the ves­ tibular apparatus is not providing clear information about the position of the head, children may also maintain secure upright posture as they walk by

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Figure 7–1.  It is difficult to relax and fall asleep without first confirming that the body is fixed and secure with no danger of falling. The deep pressure created by these postures is also innately calming.

clenching the teeth or biting on an object, and also by fixating their visual attention on a stable target in the distance ahead of them. This latter strategy often leaves little visual attention available for monitoring the rest of the immediate environment, so children may fail to notice obstacles in the lower visual field. From as young as 5 months of age, children often place one ankle up on the other knee when stationary, which gives very strong proprioceptive and tactile feedback about the position of the lower body and indicates that the body is fixed and stable so there is no danger of a fall or involuntary move­ ment under gravity. This leg posture is even more common when children are preparing to sleep and may be maintained throughout the night in some cases (see Figure 7–1). When a child has a proprioceptive sense that is not working properly, other common observable outcomes may be as follows:

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92     CHARGE SYNDROME n An inability or a reluctance to push up on the hands and arms when

lying face down due to low muscle tone and an inability to “feel” and control the joints in the hands, the wrists, the elbows, and the shoulders (the prone position often stimulates an extremely strong aversive reaction). n An inability or reluctance to stand and bear weight due to low mus­

cle tone and an inability to “feel” and control the joints in the toes, the ankles, the knees, and the hips, while also maintaining vertical stability in the spine. n A strong preference for being upside down, for example, by hang­

ing over the arm of a couch or over a banister rail, or by doing some kind of supported headstand on a couch. These positions pro­ vide strong proprioceptive feedback, either through compression of the spine in headstands or by stretching of the spine if the head is hanging in space. There is also the possibility that these “head upside down” postures may be providing some residual vestibular stimulation, depending on the status of the vestibular apparatus in the inner ears (see Chapter 27). n Frequent use of the arms and hands to prop the head or the upper

body, or frequently needing to lean against furniture, walls, posts, trees, or other people, especially if the child is needing to use their eyes for sustained attention (Figure 7–2 and Figure 7–3).

Figure 7–2.  Fixing the lower body, then fixing the upper body, and stabilizing the head to facilitate extended controlled use of residual vision.

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Figure 7–3.  Minimizing the challenge of gravity while leaving the visual field open and keeping both hands free for visually directed activity requires considerable ingenuity. n Heavy foot stomping, sometimes several times with each step,

when learning to walk—literally “feeling the feet” through a combination of tactile sensation and, especially, this strong pro­ prioceptive input. n Paradoxically, after months or years of forceful flat foot stomp­

ing on the floor while independent walking is developing, some children, once walking is mastered, develop and prefer a tiptoe barefoot style, the bare feet maximizing tactile sensation, and being on tiptoe maximizing the proprioceptive (pressure) input through the feet, the ankles, the calves, the knees, the thighs, and the buttocks. This is a different way of “feeling” the muscles in the legs and the feet by tightening them up so that the brain knows exactly where they are and what they are doing. n Clumsy, poorly coordinated movements, so that sometimes the child

must make several attempts to achieve the desired outcome. Chil­ dren may use specific self-taught strategies to minimize errors, such as close visual scrutiny, or sliding the hand or arm along a wall or a table in order to reach for an object, which provides tactile infor­ mation about their movements and helps to stabilize the arm, as they reach.

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94     CHARGE SYNDROME n Use of too little force, or of excessive force (poorly graded move­

ments), when touching, patting, grasping, pushing and pulling, and lifting or placing things. The child may adopt abnormally high mus­ cle tone, use strong movements, an overfirm grip, and excessive force in making contact with people or objects, all of which may be misinterpreted as aggressive, rough, clumsy, or inattentive by others. n Seeking strong pressure or stretching or twisting inputs (Figure 7–4).

Examples would include squeezing into tight spaces like a card­ board box or a shelf, crossing or twisting limbs around each other,

Figure 7–4. It is a paradox that these postures, which create so much deep pressure/stretching and high tone in the muscles and joints throughout the body, should also relax the brain so that it can focus on chosen activities without needing to attend to postural security concerns.

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binding body parts with cloth or string or rubber bands, grinding the teeth, tapping hard objects on the teeth, banging on the face or head, clapping or flapping the hands, swinging the legs through space while seated, hanging doubled over a bar or swinging from it by the arms, jumping up and down with the ankle and knee joints as locked as possible, hammering an object on the floor or on a table, and kicking heavy objects like furniture or walls (Brown, 2006). It must be noted that many of the behaviors listed can serve other impor­ tant functions. In addition to helping the brain feel where the body is and what it is doing, they can also result in calming and lowering arousal levels as part of a child’s self-regulation behavior. Other Functions of the Vestibular Sense In addition to playing a crucial part in the developmental areas already dis­ cussed, this sense is also very important for many other things (Brown, 2007) including perception and processing of sound, remembering auditory and visual sequences, developing short-term memory, developing effective bilat­ erality (Souriau et al., 2005; Nicholas, 2005), and controlling autonomic func­ tioning (Gurvich, Maller, Lithgow, Haghgooie, & Kulkarni, 2013), all of which are commonly problematic for children with CS. The vestibular system also plays a fundamental role in the development of effective self-regulation, and it is not surprising that this should be a significant area of difficulty for most of this population regardless of age or developmental level (Gurvich et al., 2013; Hartshorne & Nicholas, 2017). Research on all these functional areas from the vestibular perspective is clearly of great urgency if we are to extend our understanding and offer more effective strategies for dealing with most of the significant behavioral challenges faced by children with CS (Brown, 2011b).

REFERENCES Ayres, J. (1979). Sensory integration and the child. Los Angeles, CA: Western Psy­ chological Services. Brown, D. (2005). CHARGE syndrome “behaviors”: Challenges or adaptations. American Journal of Medical Genetics Part A, 133(3), 268–272. Brown, D. (2006). The forgotten sense—Proprioception. DbI Review, 38, 20–24. Brown, D. (2007). The vestibular sense. DbI Review, 17–22. Brown, D. (2010). Vision issues for people with CHARGE syndrome. ReSources, 15(1). Brown, D. (2011a). Consequences of vestibular dysfunction. In T. S. Hartshorne, M. A. Hefner, S. L. H. Davenport, & J. W. Thelin (Eds.), CHARGE syndrome (pp. 51–54). San Diego, CA: Plural Publishing.

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96     CHARGE SYNDROME Brown, D. (2011b). Deaf-blindness, self-regulation, and availability for learning: Some thoughts on educating children with CHARGE syndrome. ReSources, 16(3). Brown, D. (2013). “Why are children with CHARGE syndrome so lazy?” Reflections on caution, self-preservation, adaptive abilities, function, efficient use of energy, and self-awareness, and the way that these can be misinterpreted. ReSources, 18(1). Cole, J. (2016). Losing touch: A man without his body. Oxford, UK: Oxford Univer­ sity Press. Cole, J., & Cole, J. O. (1995). Pride and a daily marathon. Cambridge, MA: MIT Press. Davenport, S. L. H., & Hefner, M. A. (2011). Overview and sensory issues. In T. S. Harts­ horne, M. A. Hefner, S. L. H. Davenport, & J. W. Thelin (Eds.), CHARGE syndrome (pp. 3–12). San Diego, CA: Plural Publishing. Gurvich, C., Maller, J. J., Lithgow, B., Haghgooie, S., & Kulkarni, J. (2013). Vestibular insights into cognition and psychiatry. Brain Research, 1537, 244–259. Haibach, P. (2011). Strategies to improve balance in children with CHARGE syn­ drome. In U. Horsch & A. Scheele (Eds.), Compendium on CHARGE syndrome: Multi-disciplinary and international perspectives. Heidelberg, Germany: Median Verlag. Hartshorne, T., & Nicholas, J. (2017). Self-regulation in individuals with CHARGE syndrome. Paris, Ontario, Canada: Deafblind International. Lephart, S. M., & Borsa, P. A. (1993). Proprioception: The sensation of joint motion and position. Retrieved from http://www.sportsci.org/encyc/drafts/Proprioception.doc McLinden, M., & McCall, S. (2002). Learning through touch: Supporting children with visual impairment and additional difficulties. London, UK: David Fulton Publishers. Minvielle, J. (2016). Learning and communicating through movement. DbI Review, 5, 5–10. Möller, C. (2011). Overview of balance and the vestibular system. In T. S. Harts­ horne, M. A. Hefner, S. L. H. Davenport, & J. W. Thelin (Eds.), CHARGE syndrome (pp. 43–49). San Diego, CA: Plural Publishing. Nicholas, J. (2005). Can specific deficits in executive functioning explain the behav­ ioral characteristics of CHARGE syndrome: A case study. American Journal of Med­­ ical Genetics Part A, 133(3), 300–305. Souriau, J., Gimenes, M., Blouin, C., Benbrik, I., Benbrik, E., Churakowskyi, A., & Churakowskyi, B. (2005). CHARGE syndrome: Developmental and behavioral data. American Journal of Medical Genetics Part A, 133(3), 211–220. Thelin, J. W., Curtis, S. E., Maddox, J. F., & Travis, L. S. (2011). Balance and mobility. In T. S. Hartshorne, M. A. Hefner, S. L. H. Davenport, & J. W. Thelin (Eds.), CHARGE syndrome (pp. 55–61). San Diego, CA: Plural Publishing. Williams, G. L., & Hartshorne, T. S. (2005). Understanding balance problems in chil­ dren with CHARGE syndrome. Deaf-Blind Perspectives, 12(2), 5–7. Williams, M. S. (2011). Musculoskeletal system. In T. S. Hartshorne, M. A. Hefner, S. L. H. Davenport, & J. W. Thelin (Eds.), CHARGE syndrome (pp. 181–189). San Diego, CA: Plural Publishing.

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PART II

Medical Issues in CHARGE Syndrome

F

amilies and professionals who look after individuals with CHARGE syndrome (CS) are aware of the complications of medical management. The first section of this book emphasized the sensory issues in CS. This section focuses more strictly on medical issues of the many organ systems that can be involved in an individual with CS, based on extensive clinical knowledge and hands-on experience. It is worth noting that as of this writing, there are two children’s hospitals in North America which have specialized CS clinics and are actively involved in research. Families can feel very overwhelmed with the number and scope of medical issues involved in CS. We encourage families to share specific chapters with their specialists and use these chapters as a go-to when navigating medical issues. In addition, the CHARGE Syndrome Checklist: Health Supervision Across the Lifespan provides a comprehensive guide to health screening and management for individuals with CS, from head to toe. It is organized by body system and age group and can be used as a guide for health care professionals and families in the approach to the care of this complex population. The checklist can be found in the Appendix. The following table summarizes the key messages discussed in detail in Part II of this book.

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Table Part II–1.  Key Messages of Part II Otologic

The ear findings are among the primary clinical diagnostic clues for CHARGE syndrome (CS). They are also the most prevalent, affecting more than 90% of individuals with CS. Hearing habilitation, treatment of chronic middle-ear infections, and other management require beginning ear-nose-throat and otologic services early in life.

Airway

Airway issues are extremely common in CS and a large cause of both morbidity and mortality. Aspiration is a particular concern and requires multidisciplinary evaluation. Anesthesia risks, such as difficult intubation and postoperative airway events, are increased in CS.

Gastrointestinal (GI)

GI involvement is often overlooked in CHARGE. The cranial nerve anomalies resulting in gut motility issues are key to understanding gastroesophageal reflux, abdominal pain, and constipation. Poor sucking, chewing, swallowing, oral packing, and other feeding issues are common.

Neurodevelopment

Cranial nerve abnormalities play a pivotal role in much of the neurodevelopment aspects of CHARGE, including the sensory issues discussed in Part I. Development can be delayed and disordered because of the multisensory issues; detailed cranial magnetic resonance imaging (MRI) and computed tomography (CT) scans are helpful for both diagnosis and management.

Heart

Cardiac malformations are common and can range from minor holes, to complex defects, to less familiar findings, such as vascular rings or arrhythmias. Older individuals with CS often need to transition to adult cardiology. Cardiac arrhythmia and postural orthostatic tachycardia syndrome (POTS) are conditions that can occur in adolescence and adulthood, with or without previous cardiac involvement.

Renal

Renal ultrasounds should be performed in all individuals who are presumed to have or actually have a diagnosis of CHARGE, as any anomaly can occur. Micropenis and undescended testes are common in boys. Labial abnormalities are probably common but less obvious. Awareness of vesicoureteric reflux is important, as renal failure is not uncommon in individuals with CS.

98

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Table Part II–1.  continued Endocrine

Growth is often delayed, less often by growth hormone (GH) deficiency than by nutritional and metabolic challenges. Puberty is often delayed or disordered, requiring hormone therapy. These hormones (testosterone for boys and estrogens for girls) also protect the bones, heart, and mental wellbeing of the individual.

Immune

There is an increased risk for recurrent infections, especially otitis media, sinus infections, and lung infections due to aspiration. A small number of individuals may be significantly immunocompromised, often beginning early in life, and require an immunologist throughout their lives.

Musculoskeletal

Abnormalities of both the bone and muscle are common in CHARGE. Bony anomalies include missing or extra ribs, vertebrae, or fingers, absent bones, and congenital dislocation of the hip. Scoliosis is common and should be monitored during growth spurts. Decrease in bone mineral density (osteoporosis) can occur especially when hormone replacement is missed or inadequate.

Adult issues

Although medical problems in individuals with CS have been described, most studies do not include the impact of various treatment interventions. Adults with CS vary considerably in their health and developmental, cognitive, social-emotional, and independence domains.

99

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CHAPTER 8

Otologic Issues DANIEL I. CHOO

INTRODUCTION The ear is an incredibly complex human organ responsible for hearing, as well as detecting motion and helping maintain balance. As one of the most commonly affected organ systems in CHARGE syndrome (CS), it merits a detailed description and explanation of its functions, as well as implications to normal function when perturbed. Further consider that hearing is critically important to communication, especially at younger ages, when children are typically preprogrammed to learn hearing, speech, and language skills. In the setting of CS, developing an effective communication skillset remains one of the greatest challenges and one of the most vital objectives for high-level functioning. Taken together, an understanding of the normal (and abnormal) hearing and vestibular systems can be insightful into the developmental, behavioral, and functional aspects of CS. This chapter reviews the inner ear anatomy and physiology based on the classic descriptions used in the clinical literature; namely, the external, middle, and inner ear (Figure 8–1). Each section includes a discussion of the anatomical structures as well as the physiologic function of those structures. The next section focuses on the external, middle, and inner ear anomalies that are commonly seen in CS and the consequences of those anomalies. The final section focuses on the vestibular component of the inner ear and some insights regarding vestibular system defects and their unique implications in CS. 101

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Figure 8–1. Components of the human ear. External ear: Pinna (outer ear or auricle); auditory meatus; auditory canal (ear canal). Middle ear: Eardrum = tympanic membrane; middle ear bones (ossicles) = malleus (hammer), incus (anvil), stapes (stirrup); round window; eustachian tube. Inner ear: three semicircular canals (vestibular system), cochlea, and coch­lear nerve.

EXTERNAL EAR The external ear is composed of the auricle (or pinna), the external meatus (opening of the ear canal), and the ear canal. The auricle develops from six embryologic units (hillocks of His) that fuse during development to form the external ear. This structure consists of a cartilaginous framework that is covered by a very thin layer of skin that allows for the finely detailed folds and contours that yield a typical auricle (Figure 8–2). The external auditory meatus simply refers to the external opening of the ear canal and is a junction of the auricle with the ear canal proper. This portion of the ear is specifically described as it has particular relevance to malformations seen in CHARGE and is also a significant area of focus in reconstruction of the external ear. The ear canal (or external auditory canal) is a skin-lined canal that is cartilaginous at its outer portion and bony at its inner aspect, where it ends in the eardrum (tympanic membrane) (see Figure 8–1). During gestation, the region destined to become the ear canal consists of solid bone that normally opens (canalizes) to form an open tube or ear canal. Varying degrees of failure of this canalization process can lead to a spectrum of ear canal anomalies,

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Figure 8–2.  Typical external ear. This image of a fully developed external ear demonstrates the structures that comprise a typical auricle or external ear. The helix forms the outer curvature and fold of the ear, while the antihelix is formed by the auricular cartilage framework (as labeled). The tragus is composed of a separate cartilaginous component located at the front or anterior side of the ear canal opening. The antitragus is directly opposite the tragus and helps define the concha or bowl-like area in the central portion of the ear. The earlobe develops separately from the rest of the ear during embryologic development and normally fuses with the rest of the auricle during gestation. The lobe can also be misshapen or absent in individuals with CHARGE.

ranging from complete failure to form an open ear canal (aural atresia, discussed later in this chapter) to small ear canals (atretic ear canals) because of perturbation of this developmental process. The auricle as well as the ear canal function to capture sound energy and help funnel sounds to the tympanic membrane and the rest of the hearing apparatus. Subtleties of the external ear help contribute to differentially capturing sounds from different directions that make people better at focusing on desired targets while also diminishing background (competing) noises. The ear canal skin also contains cerumen glands that secrete wax (cerumen)

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104     CHARGE SYNDROME

that has some protective functions in the ear but can also cause problems (buildup and obstruction) when the external ear is not fully formed.

MIDDLE EAR The middle ear is a complex compartment of the human inner ear that is bordered by the tympanic membrane (eardrum) at its outer (lateral) aspect, connects to the mastoid compartment posteriorly, connects to the eustachian tube at its inner (medial) aspect, and contains three ossicles (hearing bones) that are important for normal hearing. The tympanic membrane sits at the junction of the ear canal with the middle ear space and consists of a three-layer structure (skin on the outer surface, a middle fibrous tissue layer, and an inner mucosal layer). The eardrum seals off the ear canal and serves to capture the sound energy/vibrations as they are funneled down the ear canal. The typically taut nature of the tympanic membrane allows it to vibrate with sound energy and transmit the vibrations along the three hearing bones (ossicles) that are connected in a chain before reaching the true inner ear (see Figure 8–1). The malleus, incus, and stapes (commonly referred to as the hammer, anvil, and stirrup, respectively) are minute bones whose function is to amplify the vibrations of sound and speech in order to increase the sensitivity of the human ear to very faint sounds. The first ossicle (malleus) is attached to the inner surface of the tympanic membrane, while the last ossicle (stapes) sits directly on top of the inner ear (cochlea). As described later in this chapter, any disruption or defect of the ossicular chain interrupts the conduction of sound through this system and causes a hearing loss (i.e., a conductive hearing loss). The mastoid compartment is a normal bony cavity composed of a network of air cells in the bone behind the ear. Although the exact function of the mastoid cavity is unclear, its connection to the middle ear space causes it to be affected by processes in the middle ear. For example, infections or fluid collecting in the middle ear compartment usually result in fluid and/or infection in the mastoid (and vice versa). The eustachian tube is a less commonly discussed but highly relevant portion of the middle ear system. The eustachian tube connects the middle ear (and mastoid) to the back of the nose and throat area. Its function is believed to be primarily related to ventilating the middle ear compartment and perhaps also for draining fluid from the middle ear. As an illustration of the function of the eustachian tube, people flying on an airplane who feel pressure in the ear during ascent and descent will commonly pinch their nose shut and blow. This maneuver (Valsalva maneuver) forces air up the eustachian tube and allows equalization of pressure on the inside of the eardrum with the external air pressure. In infants and toddlers, eustachian tube function is very commonly immature and prone to dysfunction. In this case,

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the middle ear collects fluid that then becomes prone to recurrent infections (otitis media). Because of this phenomenon, insertion of “tubes” in children’s eardrums (aka tympanostomy tubes, pressure equalization [PE] tubes, grommets, or ventilation tubes) is the most commonly performed surgical procedure in children in the United States. As children grow and mature, their eustachian tubes also improve in terms of development and function. As a result, children typically “outgrow” their chronic ear infection problems and no longer require tubes in their ears.

THE INNER EAR The inner ear can be broken down into two parts: the auditory and vestibular systems (Figures 8–1 and 8–3). The auditory portion of the inner ear is composed of the cochlea and cochlear nerve, while the vestibular portion is composed of the three semicircular canals, the utricle and saccule, the superior and inferior vestibular nerves, and the endolymphatic duct and sac. The cochlea is a snail shell–shaped organ, encased in a bony protective covering, that contains the hair cells that detect sound energy and convert that acoustic energy into an electrical signal conducted along the cochlear nerve to the brain (see Figure 8–3). The hair cells are maintained in a highly specialized fluid (endolymph) within the cochlea that is critical to normal hearing. The cochlear hair cells are further specialized into one row of inner hair cells and three rows of outer hair cells that each have a specific contribution to hearing. The cochlea is arranged in a “tonotopic” fashion. The basal or beginning region of the cochlea is responsible for detecting high-frequency (high-pitch) tones or sounds, while the apex of the cochlea (the further region of the cochlear spiral) is responsible for detecting low-frequency (low-pitch) sounds. Accordingly, it is possible to examine an audiogram (hearing test) and, based on the responses at different frequencies, determine what portion of the cochlea is damaged or not functioning properly (see Chapter 3). Once development of the inner ear is complete, these hair cells do not (naturally) regenerate if damaged or lost. As a result, individuals with a lack or loss of hair cells (from hypoxia, trauma, inner ear infections, or certain chemotherapeutic drugs or antibiotics) demonstrate hearing loss that is irreversible and can only be compensated for with hearing aids or cochlear implants. The individual cochlear nerve fibers attach to each of the cochlear hair cells and, bundled together, comprise the cochlear nerve. These nerve fibers are essential in transmitting the signals from the cochlea to the various relay centers in the brainstem and cortex that allow the detection of sound, the appreciation of music, and of course, the deciphering of speech and language. In the vestibular portion of the inner ear, there are three semicircular canals oriented orthogonally (at right angles) to each other such that movement

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Figure 8–3.  Details of the inner ear. Due to the extremely intricate and complex anatomy, the inner ear is sometimes referred to as a labyrinth, or membranous labyrinth. The anterior, posterior, and lateral semicircular canals (as labeled) are oriented orthogonally (90° to each other) so that at least one canal will be stimulated regardless of what plane of movement occurs. The ampulla contains the actual sensory hair cells that detect changes in movement or position. The utricle and saccule are two of the oldest evolutionary structures of the inner ear and are designed to detect linear or gravitational acceleration (starting, stopping, horizontal, and vertical movement). The cochlea comprises the auditory portion of the inner ear and, as shown, is connected to the vestibular portion of the inner ear. This connection is one reason why auditory and vestibular conditions commonly occur together in the setting of CHARGE, as well as beyond CHARGE.

of the head can be detected regardless of the plane in which the movement occurs (see Figure 8–3). Analogous to the auditory system, the semicircular canals each have an ampullated (dilated) portion that houses special hair cells that detect movement and generate electrical signals conducted along the vestibular nerves to the brain. The ability to detect position and movement is essential to normal human posture and mobility. When the vestibular system is perturbed or not functioning properly, patients often complain of dizziness, vertigo, imbalance, or disequilibrium. Also included in the vestibular

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por­tion of the inner ear are the utricle and saccule (see Figure 8–3). These represent the oldest evolutionary structures within the inner ear and are typically described as detecting gravitational acceleration—changing from a stop to starting a movement, horizontal movement, and vertical movement. Finally, the endolymphatic duct and sac are structures attached to the inner ear that are believed to regulate the composition of inner ear fluids (endolymph), which is essential for normal hearing and balance function. These structures contain cellular pumps that transport negatively charged ions (anions, such a chloride and bicarbonate) into or out of the inner ear. If these functions are disrupted, then symptoms of hearing loss and/or dizziness can occur due to the abnormal fluid balance in the inner ear.

ANOMALIES OF THE EAR IN CHARGE SYNDROME External Ear The atypical shape of the external ear is one of the most common and identifiable features of individuals with CHARGE (Hartshorne, Hefner, Davenport, & Thelin, 2011). The auricles are smaller and misshapen (Figure 8–4) with loss of some of the usual folds that comprise a typical auricle or pinna. Asymmetry of the external ears is also fairly common in CS. The cartilage is often malacic (weaker or “floppier” than usual) and can make hearing aid use a challenge. Microtia (near absence of the external ear) is rare in CS. The typical rigidity of the cartilage does mature over time but is significantly delayed until after the first decade of life. In many instances, especially at very young ages, the external ear anomalies are associated with underdevelopment of the external meatus (opening of the ear canal) or the ear canal itself (aural atresia). Such conditions can compromise hearing due to the obstruction of sound reaching the ear canal and eardrum. Children with CHARGE can also develop infections of the ear canal, termed otitis externa. This can be due to their smaller ear canals that trap more wax, debris, and water, making those ears prone to developing infections. In addition, the use of hearing aids can also block the ear canal opening when used, decreasing ventilation and trapping more moisture and debris in the ear canal. Otitis externa is also seen more frequently in the summer due to moisture and water irritating and/or infecting the ear canal, and this explains why this condition is also commonly referred to as “swimmer’s ear.” Middle Ear The middle ear is also particularly prone to problems in individuals with CHARGE. Otitis media as well as middle ear ossicular (hearing bone) malformations

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Figure 8–4. “Typical” CHARGE ears. These examples of external ears from children with CHARGE show two examples of the spectrum of ear malformations that can be observed. The first panel shows an auricle that is slightly smaller than typical and displays mild hooding and thickening of the helix (*) at the top (superior) portion of the ear. The comparable area of the second ear with a hearing aid is labeled (*). The antihelix is also less defined in CHARGE (**). The degree of development of the earlobe is also highly variable in CHARGE (***).

are very common in CS (Shah et al., 1998; Wright, Meyerhoff, Brown, & Rutledge, 1986) and can cause significant hearing issues, as well as issues with quality of life. Otitis media refers to a spectrum of conditions that affect the middle ear. At the milder end of the spectrum, the middle ear of patients with CS is susceptible to persistent fluid retention. As described earlier, the poor eustachian tube function, along with recurrent ear infections, can result in chronic fluid in the middle ear space. Patients with this persistent fluid (otitis media with effusion) often complain of a clogged sensation in their ears and muffled hearing (Núñez-Batalla, Jáudenes-Casaubón, Sequí-Canet, Vivanco-Allende, & Zubicaray-Ugarteche, 2019; Rosenfeld, Culpepper, Yawn, & Mahoney, 2004; Shah et al., 1998; Simon et al., 2018; Wright et al., 1986). If the fluid in the middle ear space becomes infected, children are diagnosed with acute otitis media, or a typical “ear infection.” These bouts of otitis media can be viral or bacterial in nature and present with symptoms of ear pain, irritability, fever, and poor sleep. In some instances, an acute ear infection can result in perforation of the eardrum and accompanying drainage from the ear. The vast majority of these perforations heal on their own as the infection resolves and do not require any repair. Overall, children with CS are frequently treated during early childhood for otitis media issues with the range of interventions discussed in greater detail later.

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The middle ear ossicles (malleus, incus, and stapes) in children with CS are frequently abnormally shaped, absent, or “fixed” (nonvibrating) (Admiraal, Joosten, & Huygen, 1998; Dhooge et al., 1998; Morgan et al., 1993; Shah et al., 1998; Wright et al., 1986) (Figures 8–5 and 8–6). Ossicles typically vibrate with sound and facilitate transfer of sound and speech to the inner ear. Abnormalities of these hearing bones, their absence, or fixation can all result in a loss of this vibratory transmission of sound to the inner ear, causing a conductive hearing loss. The failure to develop these ossicles is typically a congenital defect, but erosion of part or all of the ossicles can occur as a result of chronic otitis media as well. Similarly, repeated middle ear infections (otitis media) can lead to scarring in the middle ear (tympanosclerosis) that can result in fixation of the ossicles (and conductive hearing loss) over time.

A

B

Figure 8–5.  (A) Normal middle ear ossicles; (B) normal malleus and incus. Figures 8–5A and 8–5B are axial computed tomographic images from a patient with a normal inner and middle ear. The arrows indicate the middle ear ossicles (as labeled by the corresponding arrows) and the typical appearance on imaging.

A

B

Figure 8–6. CHARGE ossicles. Figure 8–6A demonstrates the common computed tomographic (CT) findings from a patient with CHARGE whose scan shows a fused and dysmorphic malleus-incus complex (arrow). Figure 8–6B demonstrates a similar CT image from a patient with CHARGE showing a partial stapes remnant (arrow) as well as fixation of the malleus to the epitympanic wall (arrow).

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Inner Ear The inner ear is perhaps one of the most commonly affected organs involved in CHARGE (Choo, Tawfik, Martin, & Raphael, 2017; see Foreword). The cochlea is very commonly “hypoplastic” or underdeveloped. As described earlier, the fully developed cochlea typically coils two and a half times. Incomplete development, where there are fewer “turns” in the coils of the cochlea, is described as being hypoplastic in the radiology literature (Admiraal et al., 1998; Choo et al., 2017; Morimoto et al., 2006). Consistent with the fact that the cochlea houses the hair cells that are responsible for sound transduction, these underdeveloped cochleas contain fewer hair cells than fully developed cochleas and consequently demonstrate sensorineural hearing loss in the vast majority of cases (Chen et al., 2020). Older nomenclature derived from plain x-rays of the inner ear (compared to current computed tomography [CT] or magnetic resonance imaging [MRI] scans) used Mondini malformations to describe milder malformations of the cochlea, while Michel aplasia was used to describe more severe hypoplasia of the cochlea (Zheng et al., 2002). Contemporary higher-resolution imaging has shown that this hypoplasia of the cochlea is a spectrum of malformations (Admiraal et al., 1998; Choo et al., 2017; Morimoto et al., 2006). The cochlear aperture is another commonly deficient inner ear structure in CHARGE (Admiraal et al., 1998; Choo et al., 2017; Morimoto et al., 2006). This opening in the cochlea typically transmits the nerve fibers of the cochlear nerve that carry the neural signal from the hair cells to the more central nuclei or relay centers along the auditory pathway. As with cochlear development, there is a spectrum of severity of cochlear aperture stenosis. In the most severe cases, there is a complete bony partition that separates the cochlea from the cochlear nerve. This results in profound hearing loss, as there is no connection between the cochlea and the rest of the auditory system. In milder cases, there is a smaller-than-typical aperture, and some nerve fibers are transmitted through the opening to the hair cells. And while hearing results are typically better when the cochlear aperture is closer to normal (i.e., larger, data not published), there are no definitive data that correlate the size of the cochlear aperture on imaging studies to specific hearing levels. In analogous fashion, the cochlear nerve is frequently affected in CHARGE (Admiraal et al., 1998; Choo et al., 2017; Morimoto et al., 2006). The spectrum of cochlear nerve abnormalities ranges from very minimally smaller (or deficient) cochlear nerves to complete aplasia (total absence) of the cochlear nerve. And similar to the cochlear aperture observations, the clinically intuitive understanding is that the smaller and more deficient the cochlear nerve (on CT and/or MRI studies), the poorer the hearing on audiologic testing. Confoundingly, however, the size of the cochlear nerve has proven to be an unreliable predictor of precise hearing level as well as an inconsistent predictor of hearing aid ability or even cochlear implant performance in CS (Ahn

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& Lee, 2013; Blake, Hartshorne, Lawand, Dailor, & Thelin, 2008; Holcomb, Rumboldt, & White, 2013; Vesseur et al., 2016). Taken together, the inner ear anomalies commonly seen in CHARGE present significant challenges to providing access and sound and speech. Thorough evaluation of the inner ear via imaging as well as audiologic evaluations are required to determine the optimal management strategies.

VESTIBULAR ANOMALIES IN CHARGE SYNDROME The most frequent clinical anomaly seen in CHARGE is absence or malformation of the semicircular canals (SCCs) (Admiraal & Huygen, 1997; Admiraal et al., 1998; Chen et al., 2020; Choo et al., 2017; Murofushi et al., 1997; WienerVacher, Amanou, Denise, Narcy, & Manach, 1999; Wright et al., 1986). CT and MRI scans from individuals with CS routinely display absence of one or more SCCs. If any of the canals are preserved, the anterior (or superior) SCC is the most likely to be present. This may have implications for some of the positioning behaviors observed in young children with CS, as discussed later (see Chapters 7, 20 and 27). Another vestibular anomaly that is commonly seen in CHARGE is an enlarged vestibular aqueduct (EVA). As described earlier in this chapter, the endolymphatic duct and sac (that are located within the vestibular aqueduct) are related to regulation of the highly specific fluid composition in the inner ear (Everett et al., 1997; Royaux et al., 2001). An EVA is the most common inner ear anomaly seen in all children with sensorineural hearing loss (SNHL) (roughly 22%). The significance of the EVA is twofold. First, ears with EVA are highly associated with SNHL as well as an increased risk for progressive (worsening) hearing loss over time. This frequently calculates into clinical management decisions regarding hearing aid and cochlear implant options. Second, most patients with EVA will experience transient periods of vertigo or imbalance. These occur at highly varied and unpredictable timepoints and are self-limiting (typically not requiring any treatment) (Manzari, 2008; Oh, Ishiyama, & Baloh, 2001; Song, Hong, Kim, & Koo, 2012).

MANAGEMENT OF EAR ANOMALIES IN CHARGE SYNDROME External Ear For external ear anomalies, the options can range from an otoplasty or microtia reconstruction (repair of the external ear shape or structure) that allows

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proper fitting of a hearing aid, to a canalplasty or aural atresia repair (opening of a tight or absent ear canal) in order to improve sound transmission down the ear canal. If identified early in infancy (e.g., the first three to four weeks of life), molding or taping of the external auricle can be helpful in reshaping the ear. However, for many infants with CHARGE, the newborn period is often consumed with significant medical issues that require prioritization. Fortunately, the external ears can be addressed later if needed but are rarely a functionally handicapping condition. For patients who are prone to ear canal infections (otitis externa), initial interventions can include routine cleanings by a physician, as well as preventative hygiene measures at home that can reduce the buildup of irritants in the ear canal and decrease the frequency of infections. In order to avoid the routine use of antibiotic drops in the ear (and risk of developing antibiotic resis­ tant organisms), the use of hydrogen peroxide (typical 3% solutions) can be used to irrigate out or clean the ear canal opening and ear canal. Similarly, common safe practices can include using a mixture of equal parts white vinegar and rubbing alcohol (70%) to irrigate out and clean the ear canal. However, when an acute external otitis develops, as evidenced by pain, drainage, swelling, with or without fever, then formal evaluation and treatment with an antibiotic plus steroid ear drop is the recommended first-line treatment (Abelardo, Pope, Rajkumar, Greenwood, & Nunez, 2009; Drehobl et al., 2008; Isaaacson, 2003; Mösges, Schröder, Baues, & Sahin, 2008; Torum et al., 2004). In the majority of cases, ear drops will satisfactorily resolve a bout of otitis externa. However, if drops alone fail, then adding an oral antibiotic to the regimen is the next-line therapy. Notably, ear canal infections are frequently more painful than middle ear infections (otitis media). The use of acetaminophen or ibuprofen is routinely recommended to alleviate this pain associated with ear canal infections. Middle Ear Infections The pediatric and otolaryngologic literature is consistent in reporting that middle ear fluid typically does not respond to treatment with oral antibiotics, as there is no infectious component in middle ear fluid (Ito et al., 2017; Principi, Marchisio, & Esposito, 2016; Rosenfeld, Culpepper, Doyle, et al., 2004; Rosenfeld et al., 2016; Simon et al., 2018). However, if this fluid becomes infected (with either bacteria or viruses), the condition becomes an acute otitis media. In comparison to otitis media with effusion, acute otitis media is often painful and associated with fever or other symptoms of an acute infection. In this instance, treatment with systemic antibiotics is appropriate and can expedite clearance of the infection and reduction of symptoms. If children demonstrate otitis media with effusion for greater than 3 months, or have five to six bouts of otitis media over a 12-month period, or three to four bouts over a 6-month period, then consideration should be given to inserting ventilation or pressure-equalizing (PE) or tympanostomy tubes in

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their ears (Núñez-Batalla et al., 2019; Principi, Marchisio, & Esposito, 2016; Rosenfeld et al., 2016). In the setting of CHARGE, factors such as cleft palate, chronic eustachian tube dysfunction, and immunodeficiencies can contribute to chronic ear infection problems. Indications for inserting PE tubes should follow typical guidelines, but consideration should be given for more aggressive management of ear infections in those patients with concomitant hearing loss. The use of hearing aids, FM systems, and cochlear implants can all be challenging enough for patients needing those interventions. Hearing with those aids and devices can be made even more difficult when confounded by superimposed ear infections. Accordingly, effective management of chronic otitis in CS needs to focus on both resolution of infections and also maintenance of adequate access to sound and speech. Although typical children out­ grow the need for ventilation in the first two years of life, children with CS often require multiple sets of tubes, even up to the teen years. In some patients, the chronic ear infections can persist even after repeated rounds of systemic antibiotics and insertion of tympanostomy tubes. In this subset of patients, more aggressive management of the infections can be necessary and involve either parenteral (intravenous) antibiotics and/or surgical clean out of the middle ear and mastoid (tympanoplasty and mastoidectomy, respectively). As discussed earlier, these chronic ear infections can obviously impair hearing, and hearing aid use can be hindered when pain prevents routine use or fluid and drainage obstruct earmolds and hearing aid tubing. Taken together, the aggressive treatment of chronic otitis media can be particularly helpful in improving quality of life.

CONDUCTIVE HEARING LOSS DUE TO EXTERNAL OR MIDDLE EAR ANOMALIES Small case series have reported 100% of children with CHARGE demonstrating conductive hearing loss component (Thelin, Mitchell, Hefner, & Davenport, 1986), while others have found the incidence to be in the 62% range (data not published). A conductive hearing loss (CHL) occurs when there is a problem involving the external and/or middle ear compartments. This type of hearing loss results from a physical blockage of the sound conduction (see Chapter 3). Some illustrative causes of a conductive hearing loss include the absence of an ear canal or an extremely small ear canal that obstructs the sounds transmission. Similarly, mundane issues such as earwax accumulation in the ear canal can block the hearing and cause a CHL. Fluid in the middle ear space can also result in a conductive loss. CHL due to fluid or earwax may fluctuate—the hearing may be better or worse depending on the conditions of fluid. Finally, eardrum defects (perforations or scarring) or abnormalities of the hearing bones (malleus, incus, or stapes) can also produce a CHL. Ossicular malformations are extremely common in CS and, in fact, should be

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always be assumed and evaluated. Assuming that ventilation tubes will ade­ quately treat CHL in a child with CS is often an inadequate assumption. The “favorable” aspects of a CHL are that it is a potentially correctible form of hearing loss and typically responds very well to amplification (hearing aids). For example, widening or enlarging an ear canal, clearing middle ear fluid, and repairing an eardrum are all interventions that can address a CHL and potentially improve hearing. Similarly, reconstructing or replacing middle ear ossicles (ossicular reconstruction) is a viable option for some patients with CS. Success rates for such surgeries are dependent on CT and audiologic findings, as well as the status of the middle ear (i.e., infections, fluid, etc.). Those ears with specific defects (e.g., fixation of the malleus head) offer a very targeted surgical repair with better hearing outcomes. In those cases where no obvious defect can be identified on preoperative scans, the hearing results are typically poorer as the surgery tends to be more exploratory (data not published). If a patient with CS has ongoing and chronic ear infections, long-term hearing results tend to be undermined by such conditions. In the setting of CHARGE, all three ossicles are prone to malformation and/or fixation. Replacement of a nonfunctioning or poorly functioning malleus and incus complex typically involves the use of a partial ossicular reconstruction prosthesis (commonly referred to as a PORP). If the stapes requires replacement as well, then a total ossicular reconstruction prosthesis (TORP) is used. The stapes is also susceptible to isolated fixation and can be removed (commonly using a laser) and replaced with a stapes prosthesis (stapedectomy).

SENSORINEURAL HEARING LOSS DUE TO INNER EAR ANOMALIES Nearly all (90% to 95%) of children with CHARGE have a sensorineural hearing loss (SNHL) (Shah et al., 1998; Trevisi, Ciorba, Aimoni, Bovo, & Martini, 2016). SNHL implies a problem at the level of the inner ear. The overwhelming majority of patients with SNHL have a defect or deficit of the hair cells in the cochlea. As previously discussed, patients with CS can display underdeveloped cochleas, and deficiencies of cochlear hair cells, as well as deficient cochlear apertures and cochlear nerves. All of these conditions are causes of SNHL that typically require some sort of hearing aid or cochlear implant for habilitation, depending on the severity of the hearing loss.

MIXED HEARING LOSS If an individual has both conductive and sensorineural components to their hearing loss, it is termed a mixed hearing loss. It is particularly common in

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CHARGE to have concurrent anomalies of the external, middle, and inner ear that result in a mixed hearing loss. See Chapter 3 for more information on the hearing losses seen in CS.

MANAGEMENT OF SENSORINEURAL HEARING LOSS IN CHARGE SYNDROME Traditional Behind-the-Ear Aids Traditional behind-the-ear hearing aids have been in existence for decades and continually improve in terms of signal processing, better energy use, min­ iaturization, reliability, convenience, and aesthetics. The advent of digital hearing aids has allowed audiologists to better program the hearing aids to match the individual hearing loss. These types of hearing aids can help individuals with CHL and/or SNHL but require an external ear and ear canal that can support the wearing and fitting of a hearing aid. There is a wide spectrum of hearing aids (ranging from completely in the canal to traditional behindthe-ear aids), yet all of these use amplification that enables the individual’s native residual hearing to function better. As an illustrative point, if a patient were to have profound deafness, then even the maximized highest output hearing aids would have no benefit (such ears might benefit from cochlear implantation). The advantages of traditional hearing aids include their noninvasive nature with minimal risks, effectiveness at providing access to sound and speech, programmability, and adjustability. The disadvantages of traditional hearing aids include cost, need for routine maintenance and refitting over time, susceptibility to blockage by earwax or ear drainage, and compliance issues. Individuals who have sensory issues (e.g., hypersensitivities) may have difficulty acclimating to hearing aids, much like they might have issues acclimating to wearing eyeglasses. However, for many of the previously mentioned reasons, traditional hearing aids remain the first-line intervention for most hearing losses in children with CHARGE.

Bone Conduction Aids Bone conduction hearing aids (BCHs) and bone-anchored hearing aids (BAHAs) were primarily designed for CHL but also have the ability to compensate for milder degrees of SNHL. As opposed to traditional hearing aids that typically amplify sound and speech, a bone conduction device works primarily by transmitting the sound vibrations directly to the inner ear (via bone conduction of the skull), bypassing issues of the external or middle ear. The sound quality and speech clarity can be remarkable with this mode of sound conduction.

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There are several different options for using these types of hearing aids. At an early age (under 5 years), children can wear a bone conduction aid on a headband that secures the hearing aid against the head. These are highly effective in terms of hearing but require the constant wearing of a headband, which may create compliance challenges as the children get older. From 5 years of age, the BAHAs are approved by the U.S. Food and Drug Administration (FDA) and can be used with either an implanted, percutaneous post (an implant with a small metallic post inserted through the skin surgically) or by a magnetic coupling system (that does not require a percutaneous post). Both types of surgically implanted devices are very effective at providing access to sound and speech, and the choice of which device to use is patient and preference driven. In the setting of CHARGE, the decision-making process needs to take into consideration factors such as risks associated with surgery and general anesthesia, need for future MRI scans (the magnetic implant is not fully compatible with routine MRI scans), type and degree of hearing loss, ear anatomy, patient tolerance, and sensory issues, as well as behavioral factors. Coordinated workup by the audiologists as well as surgeons is required to determine all the relevant considerations.

Cochlear Implants Cochlear implants (CIs) also play a significant role in the management of hearing loss in many individuals with CHARGE. As opposed to any other hearing aid or device, a CI does not amplify or make any sound when worn. Instead, the external portion of the device converts sound and speech from the environment to an electrical signal that is transmitted to the internal implant, which then stimulates the hearing nerves directly. CI systems all include an external speech processor, some type of transmitter coil, and an internally implanted receiver-stimulator with an array. The speech processor typically looks similar to a hearing aid and is worn behind the ear. This portion contains a replaceable or rechargeable battery, a microphone, a microprocessor that converts the sound and speech into an electrical signal, and a transmitter coil that sends the signal to the internal implant through the scalp. The internal receiver-stimulator has an FM antenna that receives the signal from the speech processor, as well as another microprocessor that sends the signal to the array (electrode wire) that is threaded into the cochlea. The electrodes in the array fire in specifically defined patterns that encode for different frequencies of sound and speech. This transmits information directly onto the cochlear nerves. Several different companies manufacture cochlear implants and are approved for use in the United States by the FDA. The differences between each device are beyond the scope of this chapter but should be considered by the clinical teams managing any patient with CS.

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CHARGE-Specific Surgical Implications Specific to CHARGE, there are several clinical and surgical challenges that can be encountered when considering cochlear implantation. First, MRI and CT imaging studies of patients with CS routinely show cochlea and cochlear nerves that appear smaller than usual. This can have implications for implant candidacy. For example, if the cochlea is too small to be implanted with the full-length array, it may only be possible to insert part of the stimulating array into the cochlea (resulting in less than optimal stimulation of the cochlear nerves). Similarly, if the cochlear nerve is hypoplastic, the amount of neural information that can be transmitted along the cochlear nerve to the brain is likely to be reduced, resulting in less benefit from the CI. Third, CS is associated with anomalies of the facial nerve (cranial nerve VII) as it courses through the ear (see Chapter 11). Such aberrant nerves are at higher risk for injury during ear procedures such as cochlear implantation, with the risk of iatrogenic facial nerve paralysis. Fourth, patients with CS are frequently at elevated risk for general anesthetic procedures due to their underlying cardiac, pulmonary, as well as airway conditions (see Chapter 9). Each planned surgical procedure requires a careful risk-benefit calculation and thoughtful preparation including anticipation of potential complications to execute it safely. Finally, some individuals with CS have relatively normal cochlear and cochlear nerve anatomy, yet the opening that allows the nerves to enter the cochlea (cochlear aperture) is absent or small, reducing the neural connections. This again has the potential to reduce the effectiveness of a CI. To further complicate the management of individuals with CS, imaging studies are not always the definitive indicator of CI candidacy. Some CT and MRI scans from patients with CS have been interpreted as having no visible cochlear nerve. And yet, those same patients have reliably demonstrated measurable hearing on audiologic testing. If there were truly no hearing nerves present (as suggested by the scans), then the audiologic testing should have demonstrated no measurable hearing. Such cases indicate that some patients with CS may have no demonstrable cochlear anatomy on imaging but still have functioning nerves. These data also align with cases where patients have undergone cochlear implantation despite the absence of distinct cochlear nerves on preoperative imaging. Some (but not all) of those patients have achieved meaningful hearing (Adunka et al., 2006). Such experiences demonstrate the need to develop better imaging and evaluation methodologies in order to better predict cochlear implant performance for candidates.

Future Considerations Although regeneration or repair of missing or damaged hair cells is not currently possible, it is likely to be a viable option in the future. Clinical trials for

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gene therapies and stem cell therapies for SNHL are currently in the initial phases. Clinical implementation of these treatments remains years into the future but offers hope for a more definitive means of providing high-quality access to sound and speech for patients with hearing loss.

UNDERSTANDING AND MANAGING VESTIBULAR ISSUES For children with CHARGE, from an early age, there are clinical signs and symptoms that are plausibly related to the vestibular anomalies commonly seen in this population (see Chapters 5 and 7). Infants and toddlers commonly show hypotonia (low tone), as well as delayed developmental milestones such as rolling over, sitting up, standing, and walking. Many of these abilities are at least partially related to the ability to sense body position, sense movement, and maintain balance. Without normal SCC function, the brain has to develop alternative neural pathways to determine position, movement, and balance. Thankfully, the innate plasticity of the young human brain allows for central vestibular systems (in the brainstem and cerebellum) to eventually compensate for the lack of inner ear balance function in most individuals. At an early age, one of the most prototypical behaviors reported by families is a head-hanging or upside-down positioning that children assume when watching television, iPad, or other activity (Figure 8–7). Noted CHARGE educational specialist, David Brown, has hypothesized that a child’s brain instinctively seeks that vestibular positional input that provides them with a very primitive, necessary sense of positional safety (see Chapter 7). When the superior SCC is the only functional vestibular input, a head-hanging or upside-down posture will stimulate the superior SCC and provide the child with at least some positional and safety information. Brown further postulates that a child’s brain’s ability to process higher-order functions can be impaired until this fundamental need for safety and positional awareness is obtained. However, once that requirement is satisfied, the child can then perform higher-order functions more efficiently. In line with these concepts, many families report that children will “relax” and perform more complex tasks after assuming one of these head-hanging positions. The clinical care of individuals with CS has provided unique insights into potential links between vestibular function and behavior. A deeper dive into these physiologic and behavioral associations is clearly warranted. Overarchingly, the most remarkable observation and reassuring feature is the neural plasticity that allows children to eventually develop the ability for upright ambulation and stability despite the complete absence of any semicircular vestibular apparatus.

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Figure 8–7.  Common positioning.

REFERENCES Abelardo, E., Pope, L., Rajkumar, K., Greenwood, R., & Nunez, D. A. (2009). A double-blind randomised clinical trial of the treatment of otitis externa using topical steroid alone versus topical steroid-antibiotic therapy. European Archives of Oto-Rhino-Laryngology, 266(1), 41–45. Admiraal, R. J., & Huygen, P. L. (1997). Vestibular areflexia as a cause of delayed motor skill development in children with the CHARGE association. International Journal of Pediatric Otorhinolaryngology, 39(3), 205–222. Admiraal, R. J., Joosten, F. B., & Huygen, P. L. (1998). Temporal bone CT findings in the CHARGE association. International Journal of Pediatric Otorhinolaryngology, 45(2), 151–162. Adunka, O. F., Roush, P. A., Teagle, H. F., Brown, C. J., Zdanski, C. J., Jewells, V., & Buchman, C. A. (2006). Internal auditory canal morphology in children with cochlear nerve deficiency. Otology and Neurotology, 27(6), 793–801.

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120     CHARGE SYNDROME Ahn, J. H., & Lee, K. S. (2013). Outcomes of cochlear implantation in children with CHARGE syndrome. Acta Oto-Laryngologica, 133(11), 1148–1153. Blake, K. D., Hartshorne, T. S., Lawand, C., Dailor, A. N., & Thelin, J. W. (2008). Cranial nerve manifestations in CHARGE syndrome. American Journal of Medical Genetics Part A, 146(5), 585–592. Chen, J. X., Nourmahnad, A., O’Malley, J., Reinshagen, K., Nadol Jr, J. B., & Quesnel, A. M. (2020). Otopathology in CHARGE syndrome. Laryngoscope Investigative Otolaryngology, 5(1), 157–162. Choo, D. I., Tawfik, K. O., Martin, D. M., & Raphael, Y. (2017). Inner ear manifestations in CHARGE: Abnormalities, treatments, animal models, and progress toward treatments in auditory and vestibular structures. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(4), 439–449. Dhooge, I., Standaert, L., Lemmerling, M., Govaert, P., Lagache, M., & Mortier, G. (1998). Otological manifestations of CHARGE association. Annals of Otology, Rhinology and Laryngology, 107(11), 935–941. Drehobl, M., Guerrero, J. L., Lacarte, P. R., Goldstein, G., Mata, F. S., & Luber, S. (2008). Comparison of efficacy and safety of ciprofloxacin otic solution 0.2% versus polymyxin B-neomycin-hydrocortisone in the treatment of acute diffuse otitis externa. Current Medical Research and Opinion, 24(12), 3531–3542. Everett, L. A., Glaser, B., Beck, J. C., Idol, J. R., Buchs, A., Heyman, M., . . . Green, E. D. (1997). Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nature Genetics, 17(4), 411–422. Hartshorne, T. S., Hefner, M. A., Davenport, S. L. H., & Thelin, J. W. (Eds.). (2011). CHARGE syndrome. San Diego, CA: Plural Publishing. Holcomb, M. A., Rumboldt, Z., & White, D. R. (2013). Cochlear nerve deficiency in children with CHARGE syndrome. Laryngoscope, 123(3), 793–796. Isaacson, G. (2003). Treatment of otitis externa. Pediatric Infectious Disease Journal, 22(8), 759–760. Ito, M., Takahashi, H., Iino, Y., Kojima, H., Hashimoto, S., Kamide, Y., . . . Nakayama, T. (2017). Clinical practice guidelines for the diagnosis and management of otitis media with effusion (OME) in children in Japan, 2015. Auris Nasus Larynx, 44(5), 501–508. Manzari, L. (2008). Enlarged vestibular aqueduct (EVA) related with recurrent benign paroxysmal positional vertigo (BPPV). Medical Hypotheses, 70(1), 61–65. Morgan, D., Bailey, M., Phelps, P., Bellman, S., Grace, A., & Wyse, R. (1993). Ear-nosethroat abnormalities in the CHARGE association. Archives of OtolaryngologyHead and Neck Surgery, 119(1), 49–54. Morimoto, A. K., Wiggins, R. H., Hudgins, P. A., Hedlund, G. L., Hamilton, B., Mukh­ erji, S. K., . . . Harnsberger, H. R. (2006). Absent semicircular canals in CHARGE syndrome: Radiologic spectrum of findings. American Journal of Neuroradi­ ology, 27(8), 1663–1671. Mösges, R., Schröder, T., Baues, C. M., & Sahin, K. (2008). Dexamethasone phosphate in antibiotic ear drops for the treatment of acute bacterial otitis externa. Current Medical Research and Opinion, 24(8), 2339–2347. Murofushi, T., Graham, R. I., Ouvrier, R. A., Da Silva, M., Parker, G. D., & Halmagyi, G. M. (1997). Vestibular abnormalities in CHARGE association. Annals of Otology, Rhinology and Laryngology, 106(2), 129–134.

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8. Otologic Issues      121 Núñez-Batalla, F., Jáudenes-Casaubón, C., Sequí-Canet, J. M., Vivanco-Allende, A., & Zubicaray-Ugarteche, J. (2019). Diagnosis and treatment of otitis media with effusion: CODEPEH recommendations. Acta Otorrinolaringologica Espanola, 70(1), 36–46. Oh, A. K., Ishiyama, A., & Baloh, R. W. (2001). Vertigo and the enlarged vestibular aqueduct syndrome. Journal of Neurology, 248(11), 971–974. Principi, N., Marchisio, P., & Esposito, S. (2016). Otitis media with effusion: Benefits and harms of strategies in use for treatment and prevention. Expert Review of Anti-Infective Therapy, 14(4), 415–423. Rosenfeld, R. M., Culpepper, L., Doyle, K. J., Grundfast, K. M., Hoberman, A., Kenna, M. A., . . . Yawn, B. (2004). Clinical practice guideline: Otitis media with effusion. Otolaryngology-Head and Neck Surgery, 130(5), S95–S118. Rosenfeld, R. M., Culpepper, L., Yawn, B. P., & Mahoney, M. C. (2004). Otitis media with effusion clinical practice guideline. American Family Physician, 69(12), 2776–2779. Rosenfeld, R. M., Shin, J. J., Schwartz, S. R., Coggins, R., Gagnon, L., Hackell, J. M., . . . Corrigan, M. D. (2016). Clinical practice guideline: Otitis media with effusion executive summary (update). Otolaryngology-Head and Neck Surgery, 154(2), 201–214. Royaux, I. E., Wall, S. M., Karniski, L. P., Everett, L. A., Suzuki, K., Knepper, M. A., & Green, E. D. (2001). Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion. Proceedings of the National Academy of Sciences of the United States of America, 98(7), 4221–4226. Shah, U. K., Ohlms, L. A., Neault, M. W., Willson, K. D., McGuirt Jr, W. F., Hobbs, N., . . . Healy, G. B. (1998). Otologic management in children with the CHARGE association. International Journal of Pediatric Otorhinolaryngology, 44(2), 139–147. Simon, F., Haggard, M., Rosenfeld, R. M., Jia, H., Peer, S., Calmels, M. N., . . . Teissier, N. (2018). International consensus (ICON) on management of otitis media with effusion in children. European Annals of Otorhinolaryngology, Head and Neck Diseases, 135(1), S33–S39. Song, J. J., Hong, S. K., Kim, J. S., & Koo, J. W. (2012). Enlarged vestibular aqueduct may precipitate benign paroxysmal positional vertigo in children. Acta OtoLaryngologica, 132(1), S109–S117. Thelin, J. W., Mitchell, J. A., Hefner, M. A., & Davenport, S. L. (1986). CHARGE syndrome. Part II. Hearing loss. International Journal of Pediatric Otorhinolaryngology, 12(2), 145–163. Torum, B., Block, S. L., Avila, H., Montiel, F., Oliva, A., Quintanilla, W., . . . Lombardy, E. (2004). Efficacy of ofloxacin otic solution once daily for 7 days in the treatment of otitis externa: A multicenter, open-label, phase III trial. Clinical Therapeutics, 26(7), 1046–1054. Trevisi, P., Ciorba, A., Aimoni, C., Bovo, R., & Martini, A. (2016). Outcomes of longterm audiological rehabilitation in CHARGE syndrome. Acta Otorhinolaryngologica Italica, 36(3), 206. Vesseur, A., Free, R., Langereis, M., Snels, C., Snik, A., Ravenswaaij-Arts, C. V., & Mylanus, E. (2016). Suggestions for a guideline for cochlear implantation in CHARGE syndrome. Otology and Neurotology, 37(9), 1275–1283.

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122     CHARGE SYNDROME Wiener-Vacher, S. R., Amanou, L., Denise, P., Narcy, P., & Manach, Y. (1999). Vestibular function in children with the CHARGE association. Archives of OtolaryngologyHead and Neck Surgery, 125(3), 342–347. Wright, C. G., Meyerhoff, W. L., Brown, O. E., & Rutledge, J. C. (1986). Auditory and temporal bone abnormalities in CHARGE association. Annals of Otology, Rhinology, and Laryngology, 95(5), 480–486. Zheng, Y., Schachern, P. A., Cureoglu, S., Mutlu, C., Dijalilian, H., & Paparella, M. M. (2002). The shortened cochlea: Its classification and histopathologic features. International Journal of Pediatric Otorhinolaryngology, 63(1), 29–39.

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CHAPTER 9

Airway Obstruction CATHERINE K. HART (PARTS A–C) AND CHRISTINE H. HEUBI (PART D)

INTRODUCTION Airway anomalies are incredibly common in individuals with CHARGE syn­ drome (CS). Airway involvement includes a range of issues, from anatomic abnormalities, such as choanal atresia and airway obstruction, to functional dis­­ orders, such as aspiration and sleep-disordered breathing. This chapter provides an overview of pertinent airway issues, diagnostic considerations, and manage­ ment options.

PART A: NASAL OBSTRUCTION AND CHOANAL ATRESIA Introduction Individuals with CHARGE syndrome (CS) may be affected by a number of rhino­ logic (nasal) issues. Nasal obstruction, upper airway obstruction, and sinusitis are common problems in infants and children with CS. These issues can result from choanal atresia/stenosis, cleft lip and palate, and adenoid hypertrophy.

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Choanal Atresia Choanal atresia (CA) is a rare cause of upper airway obstruction, occurring in 1 in 7,000 to 8,000 live births. CA occurs in 50% to 60% of individuals with CHARGE (Blake et al., 1998; Jongmans et al., 2006). CS is the most common syndrome observed in individuals with CA (Hengerer, Brickman, & Jeyakumar, 2008; Tellier et al., 1998). If CA is present, evaluation for other features of CS should be performed. CA causes obstruction of the posterior aspect of the nose due to failure of recanalization of the posterior aspect of the nose during fetal development ( Hengerer et al., 2008). CA can be either unilateral or bilateral. Unilateral atresia is more common, accounting for 70% of cases, while bilateral CA (Figures 9–1A and 9–1B) accounts for 30% of cases (Harris, Robert, & Kallen, 1997). CA is often described as bony, membranous, or mixed. Historically, 90% of cases were described as bony and 10% as membranous. More recent research has described only 30% of atresia as purely bony, with the remaining 70% a mix of bony and membranous. In infants with symptoms of nasal obstruction, the diagnosis of CA or choanal stenosis is suspected if a 6 French suction catheter cannot be passed through one or both of the nasal cavities. In this scenario, further evaluation is warranted. Placing a mirror under the nares and watching for fogging of the mirror due to respiration is another method to assess for patency of the choa­ nae. Flexible or rigid endoscopy is felt to be the gold standard to determine if CA is present. If present, a computed tomography (CT) scan to confirm the diagnosis and for surgical planning is essential (Moreddu et al., 2019).

A

B

Figure 9–1. Axial (A) and sagittal (B) computed tomography (CT) scan from a patient with bilateral choanal atresia and CHARGE malformation. CT images dem­ onstrate a mixed bony/membranous atresia.

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Infants with bilateral CA will often present with respiratory distress shortly after birth since newborns are obligate nasal breathers and cannot breathe orally without assistance. Infants with bilateral CA, even if stable from a respiratory standpoint, typically cannot feed without significant respiratory distress. Patients with unilateral CA often present with symptoms of unilateral nasal obstruction and unilateral nasal drainage ( Jongmans et al., 2006). They may present in infancy but often go undiagnosed until later in life. Bilateral CA requires intervention in the first days of life, whereas surgi­ cal repair of unilateral CA can often be deferred until later in life. In individuals with significant comorbidities, the decision may be made to secure the airway via a tracheostomy prior to repair of the CA. If the child is stable, CA repair can be safely performed in the first days of life. Although various surgical approaches exist, the transnasal endoscopic approach (Figures 9–2A, 9–2B, and 9–2C) is most commonly used (Teissier, Kagulidou, Couloigner, Francois, & Van Den Abbeele, 2008). The use of stents in the postoperative period is somewhat debated, but the majority of surgeons recommend stenting in children who are syndromic (Moreddu et al., 2019). Revision surgery is common with an aver­ age of 4.9 procedures required for children with bilateral CA and 2.7 in chil­ dren with unilateral CA (Teissier et al., 2008).

Adenoid Hypertrophy Anatomic studies utilizing high-resolution CT scanning have demonstrated that individuals with CS have a narrow nasopharynx (Coniglio, Manzione, & Hen­­ gerer, 1988). This narrowing can be further compounded by even mild ade­ noid hypertrophy (large adenoids) resulting in obstruction of the posterior aspect of the nose. This can lead to snoring, mouth breathing, hyponasal speech, sleep apnea, rhinosinusitis, and/or recurrent otitis media. Adenoid hypertrophy is most commonly managed by surgical removal of the adenoids (often concurrently with removal of the tonsils). There is a role for medications such as nasal steroid spray and montelukast in some individu­ als with adenoid hypertrophy.

Sinusitis Individuals with CS are frequently affected by chronic or recurrent sinusitis. Sinusitis is defined as the presence of nasal drainage (often purulent, or con­­ taining pus) with fever, irritability, and facial pain/headache. In younger chil­ dren, the maxillary (cheek) sinuses are most commonly affected. It is thought that the narrowed nasopharynx and nasal obstruction contribute to sinusitis in individuals with CHARGE. The presence of gastroesophageal reflux is another predisposing factor.

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A

B

C Figure 9–2.  Endoscopic visualization of cho­­ anal atresia on the left (A) and right (B). Sur­ gical results 2 months’ postoperative (C). 126

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Medical management is the first-line therapy and employs nasal saline spray, nasal steroids, and antibiotics, as necessary. In individuals with chronic or recurrent sinusitis not responsive to medical therapy, surgical options include adenoidectomy and/or functional endoscopic sinus surgery. In some individu­ als with recurrent or recalcitrant disease, immunologic workup is warranted. Conclusion Individuals with CHARGE syndrome have high rates of nasal obstruction due to choanal atresia and adenoid hypertrophy. Nasal obstruction can negatively impact feeding and can predispose to sinusitis. Management typically requires a combination of medical and surgical interventions tailored to each individual.

PART B: SUPRAGLOTTIC OBSTRUCTION Introduction Airway obstruction can occur at nearly all levels of the airway in CS. Obstruc­ tion in the upper part of the airway including the mouth, pharynx, and larynx is found in many individuals with CS. Mouth and Pharynx Oral and pharyngeal obstruction are often related. Micrognathia (a small lower jaw) and/or retrognathia (a posteriorly positioned lower jaw) are a frequent finding in individuals with CS, occurring in approximately 40% of individuals in one study (Morgan et al., 1993). When micrognathia/retrognathia is present, it is always accompanied by some degree of glossoptosis, which is when the tongue falls too far back into the back of the throat. Glossoptosis can result in airway obstruction, particularly with sleep. Pharyngeal obstruction is often worsened by cranial nerve abnormalities (see Chapter 11), which can lead to decreased tone and sensation of the pharynx (Naito et al., 2007). The combi­ nation of micrognathia and glossoptosis can also make management of the air­ way (mask ventilation or intubation) more challenging. Cleft lip and palate are also present in up to 20% of patients (Blake et al., 1998; Jongmans et al., 2006). Larynx Individuals with CS very commonly have a characteristic appearance of the larynx with prominent anteriorly positioned arytenoid cartilages and foreshortened-appearing vocal folds (Figures 9–3A, 9–3B, and 9–3C). Many

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A

B

C Figure 9–3.  CHARGE larynx with prominent, anteriorly positioned arytenoids and mild obstruc­­ tion (A); CHARGE larynx with severe obstruc­ tion (B); normal larynx (C). 128

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individuals with these findings demonstrate symptoms of stridor, feeding dif­ ficulties, obstructive sleep apnea, and aspiration. As such, individuals with CS are frequently diagnosed with laryngomalacia, which has similar symptoms. Although both demonstrate supraglottic obstruction, unlike children with con­­ genital laryngomalacia, individuals with CS cannot be managed with a supra­ glottoplasty. Operating on the supraglottis of individuals with CS is very likely to worsen aspiration without effectively eliminating supraglottic obstruction ( White, Giambra, Hopkin, Daines, & Rutter, 2005). In addition to the characteristic appearance of the larynx, individuals with CS often have functional abnormalities of the larynx. Many individuals have abnormal laryngeal sensation and abnormal muscular control due to cranial nerve deficits (see Chapter 11). Children with concomitant cardiac defects requiring surgical repair are at risk of injury to the recurrent laryngeal nerve. This can result in vocal cord paralysis, which can worsen airway compromise and aspiration. Evaluation and Management Any individual with CS who presents with airway symptoms or signs concern­ ing for aspiration should undergo comprehensive evaluation by a multidisci­ plinary aerodigestive team (Boesch et al., 2018). The essential components of this evaluation should include awake transnasal flexible laryngoscopy to assess both the upper airway anatomy and vocal fold mobility and combined endo­s­ copy under anesthesia. Ideally, evaluation is performed by pediatric special­ists in pulmonology, otolaryngology, and gastroenterology to obtain a comprehen­ sive assessment of the upper aerodigestive tract. The upper airway is exam­ ined for areas of dynamic collapse and obstruction, including glossoptosis. The anatomy of the larynx is assessed, looking for areas of obstruction, laryn­ geal cleft, tracheoesophageal fistula (TEF), and tracheobronchomalacia. Some individuals with CS can be challenging to intubate, and this should be noted at the time of airway evaluation. Management is tailored to each individual patient. If anatomic abnormali­ ties such as a cleft or TEF are identified, this is addressed with surgical repair. As previously mentioned, prominent arytenoids that cause obstruction at the level of the larynx are quite common, and individuals with this abnormality are often misdiagnosed with laryngomalacia. Laryngomalacia can be surgically managed by performing a supraglottoplasty, which involves releasing the tight aryepiglottic folds and resecting the redundant mucosa overlying the arytenoids to relieve obstruction. However, in most individuals with CS, a supraglotto­ plasty is contraindicated. Supraglottoplasty has been shown to be relatively ineffective for managing airway obstruction and can potentially worsen aspi­ ration in individuals with CHARGE ( Roger et al., 1999; White et al., 2005). Addi­ tional focus on managing airway obstruction and sleep apnea as well as aspi­ ration is essential, and these issues are discussed separately.

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Anesthesia in CHARGE Syndrome Individuals with CS often require multiple surgeries and procedures over the course of their lifetime. Some individuals with CHARGE are at higher risk for complications related to anesthesia. These risks are primarily due to airway obstruction and difficulty with secretion management, both of which can be exacerbated by anesthesia. The anatomic abnormalities described in this chap­­ ter can contribute to difficulty securing an airway that in some patients becomes more difficult over time (Hara, Hirota, & Fukuda, 2009; Stack & Wyse, 1991). Ideally, any procedure requiring general anesthesia should be performed in a tertiary care center with a pediatric anesthesiologist and/or otolaryngologist present when anesthesia is induced to assist with airway management (Blake et al., 2009). A wide range of equipment should be available to facilitate air­­way management, keeping in mind that a laryngeal mask airway may be a success­ ful option to secure the airway (Hara et al., 2009). Preemptive management of secretions can mitigate some of the risk associated with excessive secre­ tions. This can be achieved with premedication using glycopyrrolate (Blake, Maccuspie, & Corsten, 2012) and administration of atropine (Hara et al., 2009; Stack & Wyse, 1991). Anesthesia providers should be aware of the higher incidence of postoperative airway events in children with CS, with difficul­ ties reported in over one-third of anesthetic procedures (Blake et al., 2009).

Conclusion Airway abnormalities are common in individuals with CS. These abnormali­ ties can be anatomic and/or functional and can occur at any level of the air­ way. Comprehensive evaluation of individuals with respiratory symptoms is warranted with management tailored to each individual. Anesthesia poses addi­ tional risk in individuals with CS, and every effort should be made to combine procedures requiring anesthesia.

PART C: ASPIRATION AND SIALORRHEA Introduction Feeding difficulties occur in most individuals with CHARGE syndrome (Dob­ belsteyn, Marche, Blake, & Rashid, 2005; Dobbelsteyn, Peacocke, Blake, Crist, & Rashid, 2008). Aspiration, which is defined as the passage of material past the vocal cords into the airway, occurs in 60% to 75% of individuals with CS ( White et al., 2005). Aspiration can be a signficant source of morbidity and can lead to recurrent lung infections resulting in long-term, chronic damage

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to the lungs (Sporik, Dinwiddie, & Wallis, 1997; Torres-Silva, 2018). Individu­ als may aspirate solids or liquids taken by mouth or material that is refluxed from the stomach. Some individuals also aspirate their own saliva. Aspiration may present in many ways. Some individuals have coughing or choking with feeds, tachypnea, or noisy breathing, and others may present with recurrent pneumonia. Etiology The etiology of aspiration is usually multifactorial in individuals with CS, with cranial nerve abnormalities, structural abnormalities, and behavioral issues all contributing to aspiration risk. Deficits in cranial nerve function are present in over 90% of individuals with CS (Blake, Hartshorne, Lawand, Dailor, & Thelin, 2008) (see Chapter 11). These cranial nerve deficits negatively impact feeding development, chew­ ing, and swallowing. The deficits may impair secretion management, further contributing to the risk of aspiration. Deficits in cranial nerve IX, the glosso­­ pharyngeal nerve, impact sensation in the oral cavity and oropharynx. Deficits in cranial X, the vagus nerve, impact both motor and sensory function of the pharynx and larynx. Abnormalities of cranial nerves IX and X lead to diffi­­culty coordinating the suck/swallow pathway, may increase gagging, and cause impaired ability to protect the airway. Cranial nerve VII, the facial nerve, pro­ vides motor function to the face and mouth and innervates the submandibular and sublingual glands. Impaired motor ability can impair chewing, and abnor­ malities of innervation to the salivary glands contribute to difficulty with secre­ tion management. As a result of these cranial nerve and functional deficits, some individuals with CS are not be able to adequately coordinate the steps in sucking and swal­ lowing. Some individuals, especially in infancy, simply do not generate any spontaneous swallowing. This leads to accumulation of secretions in the oral cavity and throat, leading to sialorrhea (drooling) and increased aspiration risk. Structural abnormalities contribute to feeding difficulties either directly or indirectly by resulting in increased work of breathing and/or increased caloric needs. Any structural abnormality that results in airway obstruction can contribute indirectly to feeding difficulty. Choanal atresia, hypertrophy of the tonsils and/or adenoids, and laryngomalacia are all common causes of upper airway obstruction in individuals with CS. Upper airway obstruction can lead to increased work of breathing and increased risk of aspiration. Cleft lip and palate interfere directly with feeding by interfering with the individual’s abil­ ity to suck and swallow effectively. Structural abnormalities of the larynx and trachea can also contribute directly to aspiration. Laryngotracheoesophageal (LTE) cleft is an abnormal gap between the airway and the esophagus, which can result in aspiration (Figure 9–4A). Similarly, a tracheoesophageal fistula (TEF), which is an abnormal connection between the trachea and esophagus,

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A

B

Figure 9–4.  Laryngotracheoesophageal (LTE) cleft is an abnormal gap between the airway and the esophagus (A); a tracheoesophageal fistula (TEF) is an abnor­ mal connection between the trachea and esophagus (B).

allows for material that enters the esophagus to pass into the trachea and the lungs (Figure 9–4B). Some individuals with type I (less severe) LTE clefts may be able to feed orally. However, individuals with type 2 to 4 (more severe) LTE clefts and TEFs cannot safely feed orally until the defect has been repaired. In addition to structural abnormalities of the airway itself, individuals with cardiac abnormalities have higher rates of feeding difficulty related to either the severity of the cardiac defect or vocal fold paralysis following repair of a cardiac defect. Vocal fold paralysis increases the risk of aspiration (Raulston et al., 2019). Behavioral feeding issues can also contribute to aspiration risk. Evaluation Given the high rates of swallowing dysfunction and aspiration in individuals with CS, thorough multidisciplinary assessment of swallowing function is essen­ tial. The goal of the evaluation is to determine the safety of feeding, aspiration risk, compensatory strategies, and therapy recommendations. The initial assess­ ment often begins with an oral motor feeding evaluation. This initial assess­­ment will evaluate oral sensation and can identify oral hypo- and hypersensitivity as well as impaired tactile discrimination. It also assesses oral motor function to evaluate how an individual forms and manipulates a bolus. In most individuals, an instrumental evaluation of swallowing will be nec­ essary to fully assess aspiration risk. The videofluoroscopic swallowing study ( VSS), or modified barium swallow study, is considered the gold standard for assessing aspiration (Figure 9–5). It is performed jointly by a radiologist and

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Figure 9–5.  Videofluoroscopic swallowing study (VSS).

speech-language pathologist and can determine if airway protection is defi­ cient. To successfully complete a VSS, an individual has to be able to take at least small volumes by mouth. In individuals who do not eat or drink by mouth, it is not an effective diagnostic test. A fiberoptic endoscopic evaluation of swal­ lowing (FEES) evaluation can be performed in any individual regardless of ability to take liquids/solids orally (Figure 9–6). It is performed jointly by an oto­ laryngologist and a speech-language pathologist and allows for both assessment of aspiration and secretion management. It has the additional advantage of pro­ viding evaluation of vocal fold mobility and laryngeal sensation. If there is concern for aspiration or aspiration is identified on a FEES or VSS, a chest x-ray or CT scan of the chest should be obtained. A chest x-ray can identify nonspecific changes related to aspiration (Torres-Silva, 2018). A chest CT is good to assess for both early and chronic changes related to aspiration, such as bronchiectasis, as well as anatomic abnormalities (Torres-Silva, 2018). In individuals who are found to have aspiration, airway endoscopy in the operating room is essential to assess for structural abnormalities and obtain cul­ tures. Assessment of the entire upper aerodigestive tract is useful in patients with aspiration (Adil, Gergin, Kawai, Rahbar, & Watters, 2016). Flexible bronchoscopy

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Figure 9–6. Fiberoptic endoscopic evaluation of swallowing (FEES) examination.

performed by a pulmonologist allows for dynamic assessment of the airway and is the ideal way to obtain a bronchial culture. Microlaryngoscopy and bron­ choscopy performed by an otolaryngologist allow for assessment of anatomic abnormalities that may explain or contribute to aspiration. Esophagogastroduo­ denoscopy by a gastroenterologist provides assessment of the esophagus, stom­ ach, and first part of the small intestine. If any structural issues are identified, these can then be surgically addressed. Individuals with aspiration should also undergo magnetic resonance imag­ ing (MRI) of the brain and brainstem to assess for any central causes that may be contributing to or causing aspiration. Management Feeding modification may be appropriate in some individuals with aspiration, depending on the severity of aspiration. In some individuals, thickened feeds

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and modified swallowing techniques may be appropriate. In other individuals, a nasogastric feeding tube or gastrostomy tube may be needed to either supple­ ment or provide all nutrition. For individuals who have sialorrhea or who are aspirating secretions, there are both medical and surgical options available. Management often proceeds in a stepwise fashion, starting with medications and moving to surgery if medi­ cations do not provide adequate control. Glycopyrrolate and scopolamine are the two primary medications used to reduce the volume of saliva produced. Gly­­ copyrrolate is effective in the majority of patients when therapy is first initiated, but the dose often has to be increased to maintain its efficacy. Side effects, including dry mouth, thick secretions, flushing, and urinary retention, lead to discontinuation of the medication in approximately 20% of patients. Scopol­ amine is applied as a patch and can have the side effect of excessive drowsiness. Botulinum (Botox) is often considered the next step following medi­ cations. It is injected directly into the parotid and submandibular glands and decreases saliva production by blocking the release of neurotransmitters. It is effective in approximately two-thirds of patients and has an average duration of 4 months. In children it usually requires sedation to perform the injection. In individuals for whom medication or Botox are not effective or if a longer-term solution is desired, surgical management is considered. Surgical management may target the sources of obstruction (e.g., choanal atresia repair or adenotonsillectomy) or structural abnormalities. When a TEF or LTE cleft is present, it should be surgically repaired to eliminate the abnormal connec­ tion between the airway and the esophagus. In individuals in whom secretion management or aspiration remains a problem despite repair of any other ana­ tomic issues, the next step focuses on reducing saliva production. This is most commonly achieved by a combination of ligating the salivary gland ducts or excising a pair of the salivary glands. A commonly performed combination is ligation of the parotid ducts and excision of the submandibular glands. This is effective in significantly reducing saliva production in approximately 85% of patients (Blake, Maccuspie, & Corsten, 2012). In some instances, tracheos­ tomy is necessary to provide adequate pulmonary toilet. Tracheostomy is more likely to be recommended if there is also significant airway obstruction. In the most extreme cases, laryngotracheal separation can be performed to completely disconnect the airway from the esophagus. This is the only treatment that can prevent all aspiration. Conclusion Aspiration is a common occurrence in individuals with CS. The etiology is usu­ ally multifactorial. A multidisciplinary evaluation is essential and allows for comprehensive management to prevent long-term lung damage. Management is typically approached in a stepwise fashion with the goal of improving qual­ ity of life and preventing long-term damage to the lungs.

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PART D: SLEEP IN CHARGE SYNDROME Introduction Sleep disruption in children with CHARGE is common and is often multifacto­ rial in etiology. There is a lack of sleep-focused medical research, likely due to the nascent status of pediatric sleep medicine in general and the multiple pressing medical issues in the first few years of life in a child with CS which (necessarily) take priority. However, as children grow into adolescence and young adulthood, sleep abnormalities often emerge as an increasingly signifi­ cant issue and health concern (see Chapter 22).

Sleep Abnormalities in CHARGE The incidence of sleep abnormalities in children with CHARGE is not known, but in a study by Hartshorne et al. (2009), more than half of the 87 participants with CS (6–18 years of age) scored in the range of significant sleep disturbance based on the Sleep Disturbance Scale for Children (SDSC). Of the six subscales of the SDSC, the highest scores were seen in disorders initiating and maintaining sleep, sleep breathing disorders, and sleep-wake transitions. Those who identified as being deafblind had higher scores on the SDSC, as did chil­ dren described as having frequent middle ear infections. As the clinical spectrum of CHARGE syndrome varies widely, it is very likely that sleep quality and abnormalities also show significant variation. Neverthe­ less, these results indicate the need for heightened awareness of potential sleep problems. The “Health Supervision Guidelines in CHARGE Syndrome” check­ list (Trider, Arra-Rober, van Ravenswaaij-Arts, & Blake, 2017) recommends evaluation for tonsil and adenoid hypertrophy from infancy to adulthood if sleep-disordered breathing or obstructive sleep apnea (OSA) is suspected (see Appendix for checklist). Additionally, the patient should be assessed for sleep disturbances from age 3 years and older, with consideration for the use of melatonin. Obstructive Sleep Apnea Although obstructive sleep apnea (OSA) is diagnosed in 1.2% to 5.7% of the general pediatric population, rates in children and adolescents with CHARGE may be as high as 43% to 65% (based on parental and/or self-report; Blake, Salem-Hartshorne, Abi Daoud, & Gradstein, 2005; Marcus et al., 2012; Trider et al., 2012). A case reported by Trider et al. (2012) described a 1-year-old child with CS who presented with frequent nighttime awakenings and no more than 3 hours of uninterrupted sleep at a time. Snoring and apnea during

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sleep was present, with mouth breathing by day, daytime somnolence, and behavioral concerns. Overnight polysomnography (sleep study or PSG) at 18 months of age diagnosed OSA. The child did not tolerate a trial of continuous positive airway pressure (CPAP) therapy, and tracheostomy tube placement was considered. Ultimately, adenotonsillectomy was performed resulting in resolution of OSA, although behavioral concerns persisted. In this clinical sce­­ nario, difficulty maintaining sleep was treated by removing the airway obstruc­ tion. In other cases, however, initiation and maintenance of sleep are related to a circadian rhythm abnormality. Circadian Sleep-Wake Rhythm Disorders “Circadian biology” or a person’s “circadian rhythm” refers to an internal 24-hour biological clock that regulates everything from your sleep-wake cycles, to specific organ functions, and your metabolism. One of the fundamental cues to properly align your circadian rhythm (“entrainment”) is the normal lightdark cycle. In children and young adults with CHARGE, lack of circadian entrain­ ment leads to difficulty with sleep initiation and sleep maintenance. This is particularly true in children who have spent much of their early life in the artificial hospital environment without typical cues of daylight and darkness. Melatonin is a key regulator of sleep initiation and is suppressed by light. Chil­ dren who are not exposed to natural light cycles or who have too much arti­ ficial light exposure may develop circadian rhythm abnormalities, promoting disruption in circadian clockwork and suppression of natural melatonin release. It is also common for children with visual impairment to have sleep problems (Hull, Czeisler, & Lockley, 2018; Stores & Ramchandani, 1999). In children with CS, it is important to consider the use of light therapy as well as melato­ nin. In rare cases, despite attempts to normalize one’s circadian rhythm with light therapy and melatonin, it has been found that autonomic dysregulation (a failure of part of the self-regulatory system) is the cause of sleep disturbance. Evaluation and Treatment The first step in the evaluation and management of a child with CS with a sleep abnormality is to obtain a thorough sleep history along with assessment for sleep-disordered breathing and possible OSA. Referral to an otolaryngolo­ gist or a sleep specialist for overnight polysomnography (sleep study or PSG) is recommended in patients who snore more than three times per week and have any of the following associated symptoms: labored breathing during sleep; gasps, snorts, or observed apnea; sleep enuresis (bedwetting); sleeping in a sitting position or with neck hyperextended; headaches on awakening; daytime somnolence; or behavioral issues (Marcus et al., 2012). Adenoton­ sillectomy is frequently the first-line treatment for children with OSA. In children with CS, it is important to ensure both choanae are patent with no

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narrowing or stenosis. It is difficult to assess the impact of disrupted sleep on children with behavioral issues, and often the first step is to rule out OSA as treatment can often be straightforward, particularly in children with persis­ tent OSA after adenotonsillectomy. Multidisciplinary evaluation is necessary with consideration of CPAP therapy and other surgical options. Drug-induced sleep endoscopy (DISE) and/or cine magnetic resonance imaging (cineMRI) are employed to determine if there is a surgical option (Bluher, Ishman, Bal­ dassari, 2019). Tracheostomy tube placement is rarely indicated but may be considered in cases of severe, refractory OSA. Second, it is important to determine sleep habits (bedtime, wake time, and any nap times) by keeping a 2-week sleep diary (American Academy of Sleep Medicine [AASM], n.d.). A free running circadian rhythm is easily identified on a 2-week sleep diary and must be ruled out in children with visual impair­ ment. In cases where a sleep log is unable to be obtained, referral to a sleep specialist is merited so that actigraphy can be employed. Actigraphy refers to the measurement of activity/movement, typically by means of a small, wristworn actigraph. If sleep maintenance insomnia is a predominant issue, and OSA has been ruled out, consideration of other etiologies, including periodic limb movements of sleep, nonapneic hypoxemia (low oxygen levels in the blood), and alveolar hypoventilation (retention of carbon dioxide), is neces­ sary, and overnight sleep study may be indicated. Of note, low oxygen satura­ tion levels on overnight polysomnography, whether associated with respiratory events or at baseline, should prompt evaluation for ongoing aspiration in a child with CS. If sleep-onset insomnia (sleep initiation) is at the forefront of sleep issues, counseling on adequate sleep hygiene is of the utmost impor­ tance, and determining the role of light therapy and melatonin is often neces­ sary to entrain the circadian clock (see Chapter 22 for extensive discussion on sleep hygiene). Pharmacologic Management The role of sleep pharmacotherapy is best approached in multidisciplinary fashion with involvement of both a sleep specialist and developmental or behav­ ioral specialist. As mentioned previously, melatonin can be very effective for sleep abnormalities when used appropriately. Dosing and time of administra­ tion are tailored based on the specific sleep abnormality of the child. A recent systematic review and meta-analysis of melatonin usage for children with sleep problems and neurodevelopmental disorders revealed improved total sleep times and decreased sleep latency, without change in frequency of nighttime awakenings and without significant side effects (Abdelgadir, Gordon, & Ako­ beng, 2018). The use of melatonin for sleep-onset insomnia is widely accepted in children and should be considered, in conjunction with behavioral modifi­ cation and adequate sleep hygiene. For the purpose of phase shifting and in regulation of a free running circadian rhythm, management by a sleep special­

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ist is warranted. Additionally, further pharmacologic options can be considered if a sufficient trial of melatonin has been pursued and deemed unsuccessful.

Conclusion Sleep abnormalities in CS have been described anecdotally and in small num­ bers in the medical literature. They likely represent an underreported and undermanaged condition that merits further study. Screening for OSA needs to be performed throughout the life span of a person with CS, and the impor­ tance of diagnosis and management cannot be stressed enough. Adenotonsil­ lectomy should be considered as a first-line treatment for obstructive sleep apnea, and further management options should be pursued in those with per­ sistent sleep issues. Circadian rhythm abnormalities should be identified and treated. Consistent sleep routines and schedules, along with adequate sleep hygiene are necessary in persons with CS. A multidisciplinary approach utiliz­ ing a sleep specialist, otolaryngologist, and behavioral or developmental spe­ cialist should be considered.

REFERENCES Abdelgadir, I. S., Gordon, M. A., & Akobeng, A. K. (2018). Melatonin for management of sleep problems in children with neurodevelopmental disorders: A systematic review and meta-analysis. Archives of Disease in Childhood, 103(12), 1155–1162. Adil, E., Gergin, O., Kawai, K., Rahbar, R., & Watters, K. (2016). Usefulness of upper airway endoscopy in the evaluation of pediatric pulmonary aspiration. JAMA Otolaryngology-Head and Neck Surgery, 142(4), 339–343. American Academy of Sleep Medicine (AASM). (n.d.). Two week sleep diary. Retrieved from http://yoursleep.aasmnet.org/pdf/sleepdiary.pdf Blake, K. D., Davenport, S. L., Hall, B. D., Hefner, M. A., Pagon, R. A., Williams, M. S., . . . Graham Jr, J. M. (1998). CHARGE association: An update and review for the pri­ mary pediatrician. Clinical Pediatrics, 37(3), 159–173. Blake, K. D., Hartshorne, T. S., Lawand, C., Dailor, A. N., & Thelin, J. W. (2008). Cranial nerve manifestations in CHARGE syndrome. American Journal of Medical Genetics Part A, 146(5), 585–592. Blake, K. D., Maccuspie, J., & Corsten, G. (2012). Botulinum toxin injections into salivary glands to decrease oral secretions in CHARGE syndrome: Prospective case study. American Journal of Medical Genetics Part A, 158(4), 828–831. Blake, K., D. MacCuspie, J., Hartshorne, T. S., Roy, M., Davenport, S. L., & Corsten, G. (2009). Postoperative airway events of individuals with CHARGE syndrome. International Journal of Pediatric Otorhinolaryngology, 73(2), 219–226. Blake, K. D., Salem-Hartshorne, N., Abi Daoud, M., & Gradstein, J. (2005). Adolescent and adult issues in CHARGE syndrome. Clinical Pediatrics, 44(2), 151–159.

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140     CHARGE SYNDROME Bluher, A. E., Ishman, S. L., & Baldassari, C. M. (2019). Managing the child with persis­ tent sleep apnea. Otolaryngology Clinics of North America, 52(5), 891–901. Boesch, R. P., Balakrishnan, K., Acra, S., Benscoter, D. T., Cofer, S. A., Collaco, J. M., . . . Wood, R. E. (2018). Structure and functions of pediatric aerodigestive programs: A consensus statement. Pediatrics, 141(3), e20171701. Coniglio, J. U., Manzione, J. V., & Hengerer, A. S. (1988). Anatomic findings and man­ agement of choanal atresia and the CHARGE association. Annals of Otology, Rhinology and Laryngology, 97(5), 448–453. Dobbelsteyn, C., Marche, D. M., Blake, K. D., & Rashid, M. (2005). Early oral sensory experiences and feeding development in children with CHARGE syndrome: A report of five cases. Dysphagia, 20(2), 89–100. Dobbelsteyn, C., Peacocke, S. D., Blake, K. D., Crist, W., & Rashid, M. (2008). Feeding difficulties in children with CHARGE syndrome: Prevalence, risk factors, and prog­ nosis. Dysphagia, 23(2), 127–135. Hara, Y., Hirota, K., & Fukuda, K. (2009). Successful airway management with use of laryngeal mask airway in a patient with CHARGE syndrome. Journal of Anesthesia, 23(4), 630–632. Harris, J., Robert, E., & Kallen, B. (1997). Epidemiology of choanal atresia with spe­ cial reference to the CHARGE association. Pediatrics, 99(3), 363–367. Hartshorne, T. S., Heussler, H. S., Dailor, A. N., Williams, G. L., Papadopoulos, D., & Brandt, K. K. (2009). Sleep disturbances in CHARGE syndrome: Types and relation­ ships with behavior and caregiver well-being. Developmental Medicine and Child Neurology, 51(2), 143–150. Hengerer, A. S., Brickman, T. M., & Jeyakumar, A. (2008). Choanal atresia: Embryo­ logic analysis and evolution of treatment, a 30-year experience. Laryngoscope, 118(5), 862–866. Hull, J. T., Czeisler, C. A., & Lockley, S. W. (2018). Suppression of melatonin secre­ tion in totally visually blind people by ocular exposure to white light. Ophthalmology, 125(8), 1160–1171. Jongmans, M. C. J., Admiraal, R. J., van der Donk, K. P., Vissers, L. E. L. M., Baas, A. F., Kapusta, L., . . . van Ravenswaaij, C. M. A. (2006). CHARGE syndrome: The phe­ notypic spectrum of mutations in the CHD7 gene. Journal of Medical Genetics, 43(4), 306–314. Marcus, C. L., Brooks, L. J., Ward, S. D., Draper, K. A. Gozal, D., Halbower, A. C., . . . Spruyt, K. (2012). Diagnosis and management of childhood obstructive sleep ap­ nea syndrome. Pediatrics, 130(3), 576–584. Moreddu, E., Rizzi, M., Adil, E., Balakrishnan, K., Chan, K., Cheng, A., . . . Nicollas, R. (2019). International Pediatric Otolaryngology Group (IPOG) consensus recom­ mendations: Diagnosis, pre-operative, operative and post-operative pediatric cho­ anal atresia care. International Journal of Pediatric Otorhinolaryngology 123, 151–155. Morgan, D., Bailey, M., Phelps, P., Bellman, S., Grace, A., & Wyse, R. (1993). Ear-nosethroat abnormalities in the CHARGE association. Archives of Otolaryngology-Head and Neck Surgery, 119(1), 49–54. Naito, Y., Higuchi, M., Koinuma, G., Aramaki, M. Takahashi, T., & Kosaki, K. (2007). Upper airway obstruction in neonates and infants with CHARGE syndrome. American Journal of Medical Genetics Part A, 143(16), 1815–1820.

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9. Airway Obstruction     141 Raulston, J. E. B., Smood, B., Moellinger, A., Heinemann, A., Smith, N., Borasino, S., . . . Alten, J. A. (2019). Aspiration after congenital heart surgery. Pediatric Cardiology, 40(6), 1296–1303. Roger, G., Morisseau-Durand, M. P., Van Den Abbeele, T., Nicollas, R., Triglia, J. M., Narcy, P., . . . Garabedian. E. N. (1999). The CHARGE association: The role of tra­ cheotomy. Archives of Otolaryngology-Head and Neck Surgery, 125(1), 33–38. Sporik, R., Dinwiddie, R., & Wallis, C. (1997). Lung involvement in the multisystem syndrome CHARGE association. European Respiratory Journal, 10(6), 1354–1355. Stack, C. G., & Wyse, R. K. H. (1991). Incidence and management of airway problems in the CHARGE association. Anesthesia, 46(7), 582–585. Stores, G., & Ramchandani, B. M. (1999). Sleep disorders in visually impaired chil­ dren. Developmental Medicine and Child Neurology, 41(5), 348–352. Teissier, N., Kagulidou, F., Couloigner, V., Francois, M., & Van Den Abbeele, T. (2008). Predictive factors for success after transnasal endoscopic treatment of choanal atresia. Archives of Otolaryngology-Head and Neck Surgery, 134(1), 57–61. Tellier, A. L., Cormier-Daire, V., Abadie, V. Amiel, J., Sigaudy, S., Bonnet, D., . . . Lyon­ net, S. (1998). CHARGE syndrome: Report of 47 cases and a review. American Journal of Medical Genetics, 76(5), 402–409. Torres-Silva, C. A. (2018). Chronic pulmonary aspiration in children: Diagnosis and management. Current Problems in Pediatric and Adolescent Health Care, 48(3), 74–81. Trider, C. L., Arra-Rober, A., van Ravenswaaij-Arts, C., & Blake, K. D. (2017). Develop­ ing a CHARGE syndrome checklist: Health supervision across the lifespan (from head to toe). American Journal of Medical Genetics Part A, 173(3), 684–691. Trider, C. L., Corsten, G., Morrison, D., Hefner, M., Davenport, S., & Blake, K. D. (2012). Understanding obstructive sleep apnea in children with CHARGE syn­ drome. International Journal of Pediatric Otorhinolaryngology, 76(7), 947–953. White, D. R., Giambra, B. K., Hopkin, R. J., Daines, C. L., & Rutter, M. J. (2005). Aspi­ ration in children with CHARGE syndrome. International Journal of Pediatric Otorhinolaryngology, 69(9), 1205–1209.

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CHAPTER 10

Gastrointestinal Dysfunction ALEXANDRA S. HUDSON AND KIM D. BLAKE

INTRODUCTION Gastrointestinal (GI) difficulties are some of the most common issues an individual with CHARGE syndrome (CS) will experience in their lifetime (Figure 10–1). A comprehensive summary of the GI issues was published by Blake and Hudson (2017). Over 90% of individuals with CS, from infants to adults, have reported GI and feeding issues (Dobbelsteyn, Marche, Blake, & Rashid, 2005; Dobbelsteyn, Peacocke, Blake, Crist, & Rashid, 2008). Many of the clinical features of this genetic condition will manifest as GI symptoms at multiple points throughout the life span (Table 10–1) (Blake & Hudson, 2017). GI dysfunction is so prominent that Hale, Niederriter, Green, and Martin (2016) included dysphagia/feeding difficulty as a minor criterion in the clinical diagnosis of CHARGE syndrome. Ongoing identification, investigation, monitoring, and treatment of these issues are very important. This chapter reviews the GI and feeding issues seen in CS, examines common investigations and treatments of these issues in CS, and presents two tools to monitor GI issues in individuals with CS.

143

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Figure 10–1.  Gastrointestinal and feeding dysfunction in CHARGE syndrome.

GASTROINTESTINAL DEVELOPMENT The gastrointestinal (GI) tract includes the mouth, esophagus, stomach, small and large intestines, and the anus. The liver, pancreas, and gallbladder also contribute to the digestive system, which is responsible for extracting and absorbing fluid and nutrients from food and eliminating waste. Development and maturation of the GI tract begins in utero and continues after birth. The process of successful feeding of breast milk/formula, control of salivation, digestion, and stooling is complex. This requires (but is not limited to) coordinated suck/swallow reflexes, patent (open) nares/choanae, appropriate central muscle tone, and adequate gut motility. The introduction of solid foods necessitates even more coordination of all of these factors. Childhood, adolescence,

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10. Gastrointestinal Dysfunction      145 Table 10–1.  CHARGE Syndrome Clinical Features That Can Cause Gastrointestinal and Feeding Issues

Clinical Feature

Frequency in the CHARGE Population

Coloboma of the eye, impairing vision

75%–89%

Choanal atresia/stenosis leading to difficulties breathing

38%–61%

Cranial nerve (CN) dysfunction Cranial nerve I (olfactory) dysfunction—absent/ decreased sense of smell

86%–100%

Cranial nerve V (trigeminal) dysfunction—trouble chewing

86%–100%

Cranial nerve VII (facial) dysfunction—reduced facial movement and reduced taste

86%–100%

Cranial nerve IX (glossopharyngeal) dysfunction— reduced taste and oral cavity sensation

86%–100%

Cranial nerve X (vagus) dysfunction—reduced gut motility

86%–100%

Cranial nerve XI (hypoglossal) dysfunction—reduced tongue movement

86%–100%

Developmental delay

76%–100%

Cleft lip and palate

30%–48%

Cardiovascular malformation—e.g., esophageal compression due to vascular ring

72%–92%

Tracheoesophageal fistula

18%–29%

Overcrowded oral cavity

100%

Source: Blake, K. D., & Hudson, A. S. (2017). Gastrointestinal and feeding difficulties in CHARGE syndrome: A review from head-to-toe. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 175(4), 496–506. https://doi.org/10.1002/ajmg.c.31586

and adulthood in typically developing individuals are all accompanied by further refinement of feeding skills, along with adequate nutrition to ensure good bone health, prevention of obesity, and prevention of constipation. Any of these can go awry in individuals with CHARGE. It is important to recognize and support these individuals to the best of our abilities. GI issues are among the most common causes of mortality and morbidity from the neonatal period to adulthood (Bergman et al., 2010).

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GASTROINTESTINAL PROBLEMS IN CHARGE SYNDROME The most common GI issues in individuals with CHARGE include the following: n Cranial nerve anomalies n Oral cavity overcrowding n Oral and tube feeding n Reflux n Aspiration n Abdominal pain and migraines n Constipation and dumping syndrome n An altered microbiome

Cranial Nerve Anomalies More than 90% of individuals with CS have dysfunction of at least one of their cranial nerves (CN) (see Chapter 11), with most having multiple nerves affected (Blake, Hartshorne, Lawand, Dailor, & Thelin, 2008). As a result, there may be absent or reduced sense of smell (CN I), weak chewing (CN V ), facial palsy (CN VII), sensorineural hearing loss (CN VIII), balance vestibular problems (CN VIII), and swallowing problems (CN IX, X ) (Blustajn, Kirsch, Panigrahy, & Netchine, 2008). Feeding skills and gut motility can be severely affected. As the major salivary glands are innervated by the facial nerve (CN VII) and glossopharyngeal nerve (CN IX ), there may be difficulty controlling secretions (Blake, MacCuspie, & Corsten, 2012). Cranial nerve dysfunction can impair sensation inside the mouth in addition to the muscles of chewing/swallowing, which may lead to the act of mouth overstuffing and packing food into one’s cheeks (Hudson, Colp, & Blake, 2015; Hudson, Macdonald, & Blake, 2016). Packing can increase risk of dental caries, choking, and inadequate nutrition if the individual is unable to swallow enough of their intended meal (Hudson, Macdonald, & Blake, 2016). Cloney et al. (2018) found significantly decreased and disorganized vagal innervation of the gut with slower GI emptying time in a zebrafish model of CS. Additional research utilizing zebrafish and other animal models is needed to further study gut innervation and potential pro-motility agents. Oral Cavity Crowding Many individuals with CS have enlarged tonsils and adenoids, which can cause difficulties swallowing and severe obstructive sleep apnea (see Chapters 9

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and 22) (Trider et al., 2012). This, in combination with macroglossia (large tongue) and poor oral muscle mobility (due to cranial nerve manifestations as discussed earlier), results in a functionally small oral cavity that adds to the difficulty of oral feeding and increases the risk of choking and aspiration (Macdonald, Hudson, Bladon, Ratcliffe, & Blake, 2017).

Oral Feeding and Tube Feeding Oral feeding progress is often interrupted in individuals with CS as they un­dergo multiple hospitalizations and surgeries throughout their life (Issekutz, Graham Jr, Prasad, Smith, & Blake, 2005). In particular, GI tract surgeries such as repair of cleft palate or tracheoesophageal fistula result in recovery periods that require the individual to take a break from oral feeding (Blake et al., 2009). This, in combination with the GI dysfunction inherent in CS, accounts for over 90% of individuals requiring some type of feeding tube (nasogastric, gastric, and/or gastrojejunal) at least once in their lifetime (Bergman et al., 2010; Blake & Hudson, 2017) (Figure 10–2).

Figure 10–2.  Child being fed via syringe through gastrostomy tube.

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Gastroesophageal Reflux Disease Individuals with CHARGE are at increased risk of gastroesophageal reflux disease (GERD) due to hypotonia of the lower esophageal sphincter along with uncoordinated GI tract motility. Ongoing GERD can lead to inflammation and even re-stenosis requiring repeat dilatation in individuals with previous esophageal surgeries (for tracheoesophageal fistula) or choanal surgeries (for choanal stenosis/atresia) (Teissier, Kaguelidou, Couloigner, François, & Van Den Abbeele, 2008). GERD in CS is difficult to treat both medically and surgically (Macdonald et al., 2017), with parents reporting repeat Nissen fundoplications. There has been evidence in a zebrafish CS model that poor motility and small stomach may play a role in the failure of treatment (Cloney et al., 2018). Aspiration and Anesthesia Implications Aspiration is common in individuals with CS and can increase both morbidity and mortality (Bergman et al., 2010). Hypotonia of truncal muscles and body posturing leads to choking and aspiration of food and/or liquids into the lungs ( White, Giambra, Hopkin, Daines, & Rutter, 2005). Excess salivation, problems with swallowing the saliva, and gastroesophageal reflux can contribute to aspiration. The risk of aspiration in CS is often the primary reason for limiting oral intake and receiving nutrition through tube feeding into the stomach (gastrostomy or G-tube) or small intestine directly (jejunostomy or J-tube) instead. When an individual is at risk of aspiration, undergoing general anesthesia for surgeries carries increased risk, especially when the individual wakes up from surgery and has not regained full control of secretions. Velopharyngeal incoordination also contributes to the threat of aspiration, and this is why it is recommended that surgeons and anesthesiologists try to combine multiple procedures under one anesthetic for individuals with CS (see Chapter 9; Blake et al., 2009; Trider & Blake, 2013). Abdominal Pain and Migraine Abdominal pain and abdominal migraines may be very common in individuals with CS. They often go undiagnosed and can be difficult for the individuals with CS to identify and characterize due to their communication and perception challenges (Stratton & Hartshorne, 2019). For individuals who are nonverbal, the CHARGE Non-Vocal Pain Assessment (see Appendix) was developed to better evaluate pain (see Chapter 29). Individuals may use pictures or gestures to help identify discomfort anywhere along the GI tract. Other causes of severe abdominal pain may include small bowel obstructions, which require urgent assessment by a health care professional. Individuals who have had abdominal

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surgeries are more prone to developing a bowel obstruction due to the development of scar tissue or adhesions in their abdomen. Families have reported volvulus, intussusception, bowel torsion, and strangulation. Accurate diagnosis and intervention are often delayed, especially when symptoms present in adolescents and adults. Constipation and Dumping Syndrome Constipation is a very common issue in CS (Macdonald et al., 2017). Dysfunction of the vagal nerve (CN X) is thought to contribute to constipation as it slows down gut and bowel transit time, as evidenced in the zebrafish model (Cloney et al., 2018). Reduced physical activity and picky eating (resulting in diets low in fiber and/or water) also contribute to constipation. Paradoxically, some individuals may experience rapid movement of food from the stomach to the small bowel, resulting in dumping syndrome, where the food empties too quickly from the stomach into the small intestine (Morgan, Hudson, Arra‐ Robar, & Blake, 2017). This can be due to inadequate function of the pyloric sphincter, the muscle that separates the stomach from the first part of the small bowel, which is also innervated by the vagal nerve. The rapid shift of food and sugar from the stomach to the bowel causes excess fluid to move into the bowel. This leads to abdominal distension, discomfort, and loose, watery stools not long after a meal. Dumping syndrome can also cause a drop in blood sugar several hours after a meal as the pancreas is stimulated to release large amounts of insulin in response to the influx of sugar into the intestine. That insulin causes glucose to be taken up into cells, and therefore drops the amount of glucose (sugar) in the bloodstream. Individuals who experience this low blood glucose may get light-headed and feel unwell (Morgan et al., 2017). The Gut Microbiome The gut microbiome consists of bacteria and other microorganisms that are present throughout the GI tract, playing important immunomodulatory and anti-inflammatory roles. Overgrowth or elimination of certain types of bacteria can lead to consequences in the GI tract, including infections and abdominal discomfort. The gut microbiome is being investigated at a molecular level in many genetic syndromes, to determine how they may differ from the microbiome in typically developing individuals. A study on individuals with Down syndrome found a higher level of Sutterella bacteria species, which correlated with a higher score on the Aberrant Behavior Checklist (Biagi et al., 2014). The authors postulated a link between microbiota and behavior features seen in genetic syndromes that are not seen in healthy controls. Similar trends in the gut microbiome have been observed in individuals with autism (Son et al., 2015), irritable bowel syndrome ( Wu & Lewis,

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2013), and chronic constipation (Salem, Singh, Ayoub, Khairy, & Mullin, 2018). Provisional results of a study by Dr. Kim D. Blake indicate a difference in the gut microbiome of individuals with CS when compared to matched sibling controls. Most significantly, there appears to be a trend towards an increase in Bacteroidetes and Proteobacteria and a decrease in Firmicutes in individuals with CS compared to their unaffected siblings. This pattern of gut bacteria dysregulation, with increases in problem bacteria as compared to the protective bacteria, is significant and is correlated with more significant GI symptoms as rated by the PEDSQL Gastrointestinal Symptoms Scale in the provisional study. Furthermore, individuals with more severe GI symptoms appear to have decreased diversity of gut bacteria. Decreased diversity may be due in part to the frequent use of antibiotics in children with CS. Poor gut motility may also play a role.

ADOLESCENCE AND ADULTHOOD We are continuing to learn about the issues that affect adolescents and adults with CHARGE (Bergman et al., 2010; Dobbelsteyn et al., 2008; Hartshorne et al., 2016). Certain issues related to GI problems are more likely to appear for the first time in adolescence and adulthood in CS (Hudson & Blake, 2016). Poor bone health, which is closely linked to adequate nutrition and delayed puberty, is the most common issue in this group (Forward, Cummings, & Blake, 2007). Anxiety, tics, or obsessive-compulsive disorder may interfere with mealtime and feeding behaviors (Salem-Hartshorne & Jacob, 2005). Abdominal migraines also often emerge for the first time after childhood. Gallstones can develop, predisposing the individual to cholecystitis (Searle, Graham Jr, Prasad, & Blake, 2005). Pain from cholecystitis can mimic abdominal migraine. Many individuals will need help with cooking and preparing meals, as well as ongoing mealtime supervision due to risk of choking. In contrast to death in the neonatal period, which is most often related to anatomical anomalies (cardiac, bilateral choanal atresia, central nervous system abnormalities, etc.), mortality in adolescence and adulthood most often appears to be related to swallowing difficulties, aspiration events, and postoperative airway events associated with GI surgeries (Bergman et al., 2010). This is why it is so important to continue to be vigilant in identifying GI issues throughout the entire life span in individuals with CS.

INVESTIGATIONS A multidisciplinary team composed of physicians, surgeons, speech-language therapists, occupational therapists, physical therapists, and psychologists is required to follow individuals with CHARGE. As with other health issues affect-

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ing these individuals, GI and feeding issues should be investigated and treated using a team approach. Investigations should be targeted to the specific symptoms that arise. Imaging ( X-ray, feeding studies, upper GI series with contrast, nuclear medicine scans, magnetic resonance imaging (MRI), and/or computed tomographic (CT ) scan) may be helpful in identifying anatomical and physiological abnormalities, including GERD, vascular ring, bowel malrotation, bowel obstruction, esophageal atresia, tracheoesophageal fistula, and aspiration events. Nasal endoscopy, in conjunction with imaging, is often used to assess choanal patency. Dualenergy x-ray absorptiometry (DEXA) bone scans may be used to objectively document bone health if there are concerns. Overnight oximetry studies may help identify signs of obstructive sleep apnea associated with enlarged tonsils or adenoids. Upper and lower GI imaging may provide evidence of refluxassociated inflammation. Medication trials for GERD or constipation, and evidence of improvement, are often used as investigative tools.

MANAGEMENT STRATEGIES Table 10–2 summarizes common management options for GI issues in CHARGE. Behavioral/Therapeutic Interventions Mealtime interventions are often quite helpful. Adjusting the texture of foods in the diet (e.g., purée only) based on the health care team’s assessment of the individual’s aspiration risk can help reduce aspiration episodes, including “silent aspiration” (aspiration without overt choking or coughing) that is typically not identified without formal assessment. Reduction in aspiration is critical in reducing risk of lung infections and associated hospital stays ( White et al., 2005). Identifying specific food types that the individual tends to overstuff and pack (e.g., bread, pasta), and then avoiding those may help (Patel, Piazza, Layer, Coleman, & Swartzwelder, 2005). Using a timer as a physical reminder for the individual to swallow the food in their mouth can also reduce these behaviors (Hudson, Macdonald, & Blake, 2016) (Figure 10–3). Some individuals need closer supervision than others during mealtime if they are prone to choking while eating. Avoiding fermenting foods (e.g., tempeh) may help reduce abdominal bloating and associated discomfort. Adolescents and adults with CS are at increased risk of obesity, so minimizing excess calorie intake relative to physical activity capabilities and level is an important strategy. Management options include feeding therapy to improve oral feeding skills and target specific problem behaviors such as cheek packing, mouth overstuffing, mealtime anger, repetitive behaviors, not letting foods touch each other, and more. Hypoglossal nerve stimulation therapy has previously

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152     CHARGE SYNDROME Table 10–2. Management Options for Common Gastrointestinal and Feeding Issues in CHARGE Syndrome Gastrointestinal Dysfunction

Management Options

Altered sense of smell

• Provide a variety of food options

Anatomical anomalies

• Surgical consultation

Excess salivation

• Botulinum toxin A (Botox) injection

Aspiration

• Tube feeding • Assessment for texture reduced diet

Packing food into cheeks and mouth, overstuffing of food*

• Supervision at mealtimes • Liquid chasers

Choking

• Using a timer as a swallowing reminder and mealtime pacer

Abdominal pain and bloating

• Massage, warm blanket • Pharmacological treatment

Late dumping syndrome

• Smaller and more frequent meals • Introduce more complex carbohydrates into meals

Poor bone health

• Vitamin D and calcium • Regular physical activity

Obesity

• Monitoring the balance of calorie intake and output

Constipation

• Pharmacotherapy • Increased mobility • Increased water intake

Problematic feeding behaviors

• Including in regular family mealtime • Practicing with feeding therapists

*See more helpful interventions identified by parents in Hudson, A., Macdonald, M., & Blake, K. D. (2016). Packing and problematic feeding behaviors in CHARGE syndrome: A qualitative analysis. International Journal of Pediatric Otorhinolaryngology, 82, 107–115. Source: Blake, K. D., & Hudson, A. S. (2017). Gastrointestinal and feeding difficulties in CHARGE syndrome: A review from head-to-toe. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 175(4), 496–506.

been described in treating severe obstructive sleep apnea in an individual with Down syndrome (Diercks et al., 2016) and may prove useful in CHARGE as well, but further research is needed. Cranial nerves affected in swallowing, the ability to feel food on one’s face and inside one’s mouth, and gut motility are potential targets for therapy. Working with individuals on physical activity, emphasizing weight-bearing activities, will help prevent osteopenia/ osteoporosis, obesity, and their associated health consequences.

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Figure 10–3.  A swallow prompt can help with oral feeding issues.

Medical Interventions Botulinum toxin (Botox) injections into salivary glands may reduce excess salivation that interferes with functioning (Blake et al., 2012). This is a temporary measure, as the Botox wears off after approximately 3 to 4 months, and is not effective in all cases. Botox can be used on the facial nerve (side that is normal) for treatment of migraines (Blake’s personal experience in clinic). Medical options for gastroesophageal reflux disease include histamine type 2 receptor antagonists and proton pump inhibitors. Nonsteroidal antiinflammatories (NSAIDs), in combination with a warm blanket and rest, may provide temporary relief during an abdominal migraine episode. Pro-motility agents have the potential to improve impaired gut motility, but further research is needed. Laxatives, especially bowel stimulants, are often used to prevent and treat constipation. Individuals with CHARGE are often prone to refractory constipation (due to impaired gut motility, reduced physical activity, and picky diets with reduced fiber and water intake) and may need a combination of medical therapies to manage their constipation. Surgical Interventions and Special Considerations Surgical treatment options must be tailored specifically for individuals in discussion with the entire health care team. Repair of anatomical anomalies that impair GI function are the most common surgeries undergone. These include repair of choanal atresia/stenosis, cleft lip/palate, larynx/pharynx

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defects, tonsil/adenoid removal, vascular rings compressing the esophagus, and Nissen fundoplication (for severe gastroesophageal reflux). Some surgeries (e.g., choanal atresia, tonsillectomy, Nissen fundoplication) occasionally need to be repeated in individuals with CS. If oral feeding is unsafe, if it takes an excessive amount of time to finish a meal, or if oral intake is not providing adequate calories for growth and nutrition, a gastrostomy or jejunostomy feeding tube may need to be surgically placed. For individuals with CS, it is particularly important to combine multiple procedures as much as possible to minimize the number of anesthetic events, as these individuals are at an increased risk for postoperative airway events (Blake et al., 2009). During recovery from heavy sedation or anesthesia, individuals with CS often require continuous oral suctioning of their secretions and should have access to an intensive care bed postoperatively for recovery. It is also recommended that the hospitals are equipped with experts in airway management (ENT, pediatric anesthesiologists) and that small local hospitals do not attempt procedures even if they are minor.

MONITORING PROGRESS After initiating treatment of a GI issue, whether it be therapy, medical, surgical, or a combination, it is essential to monitor response to treatment as needed and be on the lookout for new issues, as they can arise as an individual with CS ages. The CHARGE syndrome checklist (Trider, Arra-Robar, van Ravenswaaij-Arts, & Blake, 2017; see Appendix) tracks the medical specialties (including GI and feeding) that are often a part of the CS health care team, and alerts to the timing of common medical issues in CS, head to toe, across the life span. A Feeding Assessment Scale (FAS) to assess the improvement of feeding and swallowing difficulties in those who orally feed (see Appendix) is being developed by Hudson, Stratton, Hatchette, and Blake. It is adapted from an existing Pediatric Feeding Scale used for tube-fed children (Crist, Dobbelsteyn, Brousseau, & Napier-Phillips, 2004). The FAS will help families, therapists, and clinicians identify new feeding problems that may develop in individuals with CS.

CONCLUSION Individuals with CHARGE syndrome experience GI issues from head to bottom, from the neonatal period into adulthood. Almost every individual is affected in some way. Just as the clinical features of CS exist on a spectrum from mild to severe, so do the GI issues. The degree to which they can interfere with one’s quality of life also varies immensely. Each person with CS

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needs an individualized approach to investigation and management. GI issues may be overlooked, especially in the early years, in favor of more serious health issues that require more urgent intervention. Ongoing, overall health surveillance in CS is critical, as new issues continually arise and many interact with one another, creating complex and complicated medical and therapeutic challenges.

REFERENCES Bergman, J. E. H., Blake, K. D., Bakker, M. K., du Marchie Sarvaas, G. J., Free, R. H., & Van Ravenswaaij-Arts, C. M. A. (2010). Death in CHARGE syndrome after the neonatal period. Clinical Genetics, 77(3), 232–240. Biagi, E., Candela, M., Centanni, M., Consolandi, C., Rampelli, S., Turroni, S., . . . Brigidi, P. (2014). Gut microbiome in Down syndrome. PLoS ONE, 9(11), e112023. Blake, K. D., Hartshorne, T. S., Lawand, C., Dailor, A. N., & Thelin, J. W. (2008). Cranial nerve manifestations in CHARGE syndrome. American Journal of Medical Genetics Part A, 146(5), 585–592. Blake, K. D., & Hudson, A. S. (2017). Gastrointestinal and feeding difficulties in CHARGE syndrome: A review from head-to-toe. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(4), 496–506. Blake, K. D., MacCuspie, J., & Corsten, G. (2012). Botulinum toxin injections into salivary glands to decrease oral secretions in CHARGE syndrome: Prospective case study. American Journal of Medical Genetics Part A, 158(4), 828–831. Blake, K. D., MacCuspie, J., Hartshorne, T. S., Roy, M., Davenport, S. L., & Corsten, G. (2009). Postoperative airway events of individuals with CHARGE syndrome. Inter­ national Journal of Pediatric Otorhinolaryngology, 73(2), 219–226. Blustajn, J., Kirsch, C. F. E., Panigrahy, A., & Netchine, I. (2008). Olfactory anomalies in CHARGE syndrome: Imaging findings of a potential major diagnostic criterion. American Journal of Neuroradiology, 29(7), 1266–1269. Cloney, K., Steele, S. L., Stoyek, M. R., Croll, R. P., Smith, F. M., Prykhozhij, S. V., . . . Blake, K. D., & Berman, J. N. (2018). Etiology and functional validation of gastrointestinal motility dysfunction in a zebrafish model of CHARGE syndrome. FEBS Journal, 285(11), 2125–2140. Crist, W., Dobbelsteyn, C., Brousseau, A. M., & Napier-Phillips, A. (2004). Pediatric assessment scale for severe feeding problems: Validity and reliability of a new scale for tube-fed children. Nutrition in Clinical Practice, 19(4), 403–408. Diercks, G. R., Keamy, D., Kinane, T. B., Skotko, B., Schwartz, A., Grealish, E., . . . Hartnick, C. J. (2016). Hypoglossal nerve stimulator implantation in an adolescent with Down syndrome and sleep apnea. Pediatrics, 137(5), e20153663. Dobbelsteyn, C., Marche, D. M., Blake, K. D., & Rashid, M. (2005). Early oral sensory experiences and feeding development in children with CHARGE syndrome: A report of five cases. Dysphagia, 20(2), 89–100. Dobbelsteyn, C., Peacocke, S. D., Blake, K. D., Crist, W., & Rashid, M. (2008). Feeding difficulties in children with CHARGE syndrome: Prevalence, risk factors, and prognosis. Dysphagia, 23(2), 127–135.

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156     CHARGE SYNDROME Forward, K. E., Cummings, E. A., & Blake, K. D. (2007). Risk factors for poor bone health in adolescents and adults with CHARGE syndrome. American Journal of Medical Genetics Part A, 143(8), 839–845. Hale, C. L., Niederriter, A. N., Green, G. E., & Martin, D. M. (2016). Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria. American Journal of Medical Genet­ ics Part A, 170(2), 344–354. Hartshorne, N., Hudson, A., MacCuspie, J., Kennert, B., Nacarato, T., Hartshorne, T., & Blake, K. D. (2016). Quality of life in adolescents and adults with CHARGE syndrome. American Journal of Medical Genetics Part A, 170(8), 2012–2021. Hudson, A., & Blake, K. D. (2016). Newly emerging feeding difficulties in a 33-year-old adult with CHARGE syndrome. Journal of Clinical Medicine Research, 8(1), 56. Hudson, A., Colp, M., & Blake, K. D. (2015). Pocketing of food in cheeks during eating in an adolescent with CHARGE syndrome. Journal of Paediatrics and Child Health, 51(11), 1143–1144. Hudson, A., Macdonald, M., & Blake, K. D. (2016). Packing and problematic feeding behaviors in CHARGE syndrome: A qualitative analysis. International Journal of Pediatric Otorhinolaryngology, 82, 107–115. Issekutz, K. A., Graham Jr, J. M., Prasad, C., Smith, I. M., & Blake, K. D. (2005). An epidemiological analysis of CHARGE syndrome: Preliminary results from a Canadian study. American Journal of Medical Genetics Part A, 133(3), 309–317. Macdonald, M., Hudson, A., Bladon, A., Ratcliffe, E., & Blake, K. D. (2017). Experiences in feeding and gastrointestinal dysfunction in children with CHARGE syndrome. American Journal of Medical Genetics Part A, 173(11), 2947–2953. Morgan, A., Hudson, A., Arra-Robar, A., & Blake, K. D. (2017). Late dumping syndrome in a 17-year-old female with CHARGE syndrome. Journal of Paediatrics and Child Health, 53(12), 1244–1245. Patel, M. R., Piazza, C. C., Layer, S. A., Coleman, R., & Swartzwelder, D. M. (2005). A systematic evaluation of food textures to decrease packing and increase oral intake in children with pediatric feeding disorders. Journal of Applied Behavior Analysis, 38(1), 89–100. Salem, A. E., Singh, R., Ayoub, Y. K., Khairy, A. M., & Mullin, G. E. (2018). The gut microbiome and irritable bowel syndrome: State of art review. Arab Journal of Gastroenterology, 19(3), 136–141. Salem-Hartshorne, N., & Jacob, S. (2005). Adaptive behavior in children with CHARGE syndrome. American Journal of Medical Genetics Part A, 133(3), 262–267. Searle, L. C., Graham Jr, J. M., Prasad, C., & Blake, K. D. (2005). CHARGE syndrome from birth to adulthood: An individual reported on from 0 to 33 years. American Journal of Medical Genetics Part A, 133(3), 344–349. Son, J. S., Zheng, L. J., Rowehl, L. M., Tian, X., Zhang, Y., Zhu, W., . . . Li, E. (2015). Comparison of fecal microbiota in children with autism spectrum disorders and neurotypical siblings in the Simons simplex collection. PloS ONE,  10(10), e0137725. Stratton, K. K., & Hartshorne, T. (2019). Identifying pain in children with CHARGE syndrome. Scandinavian Journal of Pain, 19(1), 157–166. Teissier, N., Kaguelidou, F., Couloigner, V., François, M., & Van Den Abbeele, T. (2008). Predictive factors for success after transnasal endoscopic treatment of choanal atresia. Archives of Otolaryngology-Head and Neck Surgery, 134(1), 57–61.

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10. Gastrointestinal Dysfunction      157 Trider, C. L., Arra-Robar, A., van Ravenswaaij-Arts, C., & Blake, K. D. (2017). Developing a CHARGE syndrome checklist: Health supervision across the lifespan (from head to toe). American Journal of Medical Genetics Part A, 173(3), 684–691. Trider, C. L., & Blake, K. D. (2013). Factsheet 6: Anesthesia issues in CHARGE syndrome—What are the risks? In G. Deuce & S. McCarthy (Eds.). The CHARGE Infor­ mation Pack for Practitioners. London, UK: Sense. Trider, C. L., Corsten, G., Morrison, D., Hefner, M., Davenport, S., & Blake, K. D. (2012). Understanding obstructive sleep apnea in children with CHARGE syndrome. International Journal of Pediatric Otorhinolaryngology, 76(7), 947–953. White, D. R., Giambra, B. K., Hopkin, R. J., Daines, C. L., & Rutter, M. J. (2005). Aspiration in children with CHARGE syndrome. International Journal of Pediatric Otorhinolaryngology, 69(9), 1205–1209. Wu, G. D., & Lewis, J. D. (2013). Analysis of the human gut microbiome and association with disease. Clinical Gastroenterology and Hepatology, 11(7), 774–777.

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CHAPTER 11

Neurodevelopment KIM D. BLAKE and ELIZABETH E. GILLES

INTRODUCTION Children with CHARGE syndrome (CS) face numerous neurodevelopmental challenges. Anomalies such as microphthalmia, coloboma, and facial nerve palsies are easier to appreciate than sensorineural hearing loss, vertigo, and absent sense of smell. Brain malformations, while occurring less frequently, are important contributors to the broad range of developmental, cognitive, executive function, mood, and behavioral disorders that manifest in children with CS ( Lasserre, Vaivre-Douret, & Abadie, 2013). These conditions are easily overlooked in individuals who have significant multisensory deficits. Therefore, special care needs to be taken during assessment. Pain is a very prevalent problem in CS and frequently manifests as reactive behaviors or withdrawal (see Chapter 29). Developmental delay, learning disabilities, and cognitive and executive function deficits are common, with significant variability in severity ( Lasserre et al., 2013). Mood disorders (anxiety, depression, obsessive-compulsive disorder) and behavior problems frequently coexist with these issues and, while challenging to diagnose in individuals with significant sensory deficits, can also be easily overdiagnosed during a cursory examination. Many children experience pain, such as migraines/headaches, that is often difficult to localize and treat. Seizures and sleep issues are also reported and warrant careful evaluation, regardless of specialty. CHARGE syndrome is the end result of anomalous neural crest formation and migration during embryologic development (Adams et al., 2007; Feng et al., 2017; Layman et al., 2009; Pauli, Bajpai, & Borchers, 2017). For this 159

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reason, it is considered to be a “neurocristopathy” (Aramaki et al., 2007; Blake & Prasad, 2006). CHD7, the chromatin-remodeling gene that is known to be abnormal in most cases of CS, has been found to be essential to mammalian brain development, affecting neuronal differentiation and migration (Feng et al., 2017). The CHD7 gene codes for CHD7 protein, which is critical to the coordinated development and migration of neural crest cells to specific locations to form the forebrain and midbrain, as well as the formation of craniofacial structures such as the eye, inner ear, and olfactory neurons (O’Rahilly & Muller, 2007). In CS, mutations of this gene produce abnormal CHD7 protein, disrupting chromatin remodeling and regulation of gene expression, which, in turn, results in anomalous neural crest formation and migration (Aramaki et al., 2007; Blake & Prasad, 2006; Chai et al., 2018; Williams, 2005).

CRANIAL NERVE INVOLVEMENT Cranial nerve anomalies and dysfunction are the most common anomalies in CS (found in 70%–90% of cases) and are one of the major clinical diagnostic criteria (Blake et al., 1998, Hale 2016; see Introduction). There are 12 paired cranial nerves (CN), of which only the olfactory (CN I) and optic nerves (CN II) are in the brain. Cranial nerve ganglia for CN III through XII are found in the brainstem, which connects the brain with the spinal cord and cerebellum. The most nerves most often affected in CS are CN I (smell), II (vision), VII (facial), VIII (hearing and balance), and, we suspect, X (intestine) (Table 11–1). When discussing cranial nerve involvement, it is important to differentiate whether there is a definite anomaly, such as absence of the olfactory bulbs (which correlates with anosmia, or lack of smell) or abnormalities of vision due to microphthalmia (small eye), coloboma involving the anterior visual system, or retinal detachment. Cranial nerve evaluation can be challenging, especially with the added deafblindness, poor communication skills, delayed motor skills, and poor balance present in many individuals with CS. As a result, professionals who are not used to working with children with CS may rate these children extremely poorly, when functionally, they are capable of much more and often surpass expectations (see Chapters 18–32). Cranial Nerve I: Olfactory Nerve Hypoplasia/aplasia of some or all of the olfactory apparatus (olfactory bulbs, tracts, and olfactory lobes that are located under the frontal lobe) is found in 80% to 90% of individuals with CS (Pinto et al., 2005). This can be tested using strong smells and observing if the child becomes alert or changes behavior. Do not use citrus, smelling salts, or similar substances, as these activate pain sensors (see Chapter 4).

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Table 11–1.  Cranial Nerves: Summary of Functions Cranial Nerve

Name

General Function

Clinical findings in CS

I

Olfactory

Smell

Absent or decreased sense of smell

II

Optic

Vision

Visual impairment

III, IV, VI

Eye movements

Eye movements

Rarely affected

V

Trigeminal

Chewing muscles

Abnormal chewing and swallowing

Face and mouth sensation

Decreased facial sensation

Facial expression

Facial palsy

Taste on anterior tongue, tear glands, salivary glands

Difficulty feeding, abnormal taste on anterior tongue

Hearing and balance

Sensorineural hearing loss

VII

VIII

Facial

Vestibulocochlear

Balance problems IX

X

XI

Glossopharyngeal

Vagus

Accessory

Swallowing

Swallowing problems

Taste on posterior tongue and pharynx

Abnormal taste on posterior third of tongue

Sensation pharynx, larynx, thorax, and abdomen

Hyperactive gag, swallowing problems, gastroesophageal reflux

Autonomic parasympathetic (all organs except adrenal)

Abnormal gastrointestinal peristalsis, nausea, vomiting, constipation

Controls swallowing

Swallowing problems

Shoulder and neck movement XII

Hypoglossal

Tongue movement

Difficulty feeding

161

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Clinical Significance The absence or dysfunction of the olfactory bulbs or tracts is associated with decreased or absent smell (anosmia). Lack of sense of smell has implications for safety (e.g. fire, spoiled food), social interaction (e.g. flatulence, body odor) and possibly memory. When its unique embryology is disrupted, the resulting decreased ability to smell is linked with delay or disordered secondary sexual development, including lack of spontaneous puberty (Bergman, Bocca, Hoefsloot, Meiners, & Ravenswaaij‐Arts, 2011; see Chapter 14). Cranial Nerve II: Vision CN II carries visual information from the retina to the occipital cortex in the cerebrum. Approximately 80% to 90% of individuals with CS have visual impairment, most due to colobomas of the iris, retina, choroid, or optic disc. Chorioretinal coloboma are bilateral and most common (McMain et al., 2008). Anterior segment abnormalities include microphthalmia, microcornea, and cataracts. Refractive errors, strabismus, and ptosis can also occur. Clinical Significance Visual field loss, enlarged blind spots, poor visual acuity, lack of depth perception, and light sensitivity are common problems associated with the visual impairment commonly present in CS. Individuals who have chorioretinal colo­ bomas are also predisposed to retinal detachment (see Chapter 2) Cranial Nerve III: Oculomotor/Cranial Nerve IV: Trochlear/Cranial Nerve VI: Abducens Cranial nerves III, IV, and VI are responsible for moving the eye and are rarely involved in CS. Amblyopia and strabismus do occur, but not due to a neuropathy (see Chapter 2). Cranial Nerve V: Trigeminal Nerve The fifth cranial nerve has both sensory and motor functions (Figure 11–1). The largest of the cranial nerves, the trigeminal nerve, has three branches: ophthalmic ( V1), maxillary ( V2), and mandibular ( V3). The sensory information from this nerve travels to the brain via the trigeminal sensory ganglion. V1 and V2 are purely sensory, whereas V3 is a mixed sensory and motor nerve. Sensory information is carried from the face and mouth, including the

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11. Neurodevelopment     163

Figure 11–1.  Trigeminal nerve branches and innervation. Bruce Blaus Blausen.com staff (2014). “Medical gallery of Blausen Medical 2014.” WikiJournal of Medicine 1(2). doi:10 .15347/wjm/2014.010

lacrimal glands and conjunctivae. This nerve is the sensory arc of the corneal (blink) reflex. Motor output controls biting, chewing, and swallowing. Clinical Significance Sensory dysfunction of CN V is suspected but not yet proven in CS, largely because sensory testing in children is difficult and so many cranial nerves are involved in speaking, feeding, and swallowing. Children with CS are suspected to have problems with central processing of sensory information, contributing to oral-motor dyspraxia. Trigeminal dysfunction has been hypothesized to predispose children with CS to develop migraines (see discussion of headaches and migraines later). Cranial Nerve VII: Facial Nerve The facial nerve is also a mixed nerve with both sensory and motor components. It possesses close functional and anatomic relationships with the sen­ sory and motor divisions in cranial nerve V (trigeminal). The sensory component of CN VII carries taste sensations from the anterior two-thirds of the tongue and oral cavity. A simple way to test taste sensation is to wet a cotton swab, dip it into granulated sugar, then touch the top of the tongue near the teeth.

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Figure 11–2.  Peripheral facial nerve palsy.

The motor component of CN VII controls muscles involved in facial expression, including voluntary facial movements and the corneal reflex movement. Motor innervation to the face is unique in that the muscles of the forehead (frontalis) and eyelid closure (orbicularis oculi) are bilaterally innervated. If the facial nerve is injured in the brainstem or after exiting the brainstem, all muscles on that side of the face will be paralyzed (i.e., a peripheral facial palsy) (Figure 11–2). The involved side will have no wrinkling of the forehead, the palpebral fissure (eye opening) is widened, the eyelid cannot close, the lower lid sags, the corner of the mouth droops, and the nasolabial fold (smile or laugh line) is not visualized. This is the common presentation in CS. If eye closure is present and there is forehead wrinkling, but the nasolabial fold is absent and the corner of the mouth droops, then there is a central (brain) facial weakness. Motor testing of the facial nerve can usually be accomplished by observing the child at rest and when interacting with another person. If the child has communication skills, ask the child to screw the eyes up tightly and then open eyes and smile. In a child with a unilateral facial palsy, an air leak will develop on the abnormal side when attempting to puff the cheeks out. Children with unilateral or bilateral facial nerve palsy often have difficulty keeping saliva within the mouth due to decreased control of the orbicularis oris (mouth muscles). As children develop, they learn ways to handle their saliva better. Clinical Significance Peripheral facial nerve palsies are found in 50% to 67% of individuals with CS, unilateral more commonly than bilateral (Blake, Hartshorne, Lawand, Dailor, & Thelin, 2008). It is most often congenital, but has been observed to occur in the first few yearsl. Facial muscle weakness (paresis) affects facial expressivity, eating, and speaking. Individuals with facial palsies, particularly bilateral palsy, have decreased ability to express emotions using changes in facial expressions.

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An exposed cornea combined with an inability to blink puts the eye at risk for injury. Regular eye drops should be administered frequently throughout the day. Using ophthalmic ointment at night and taping the eyelid shut helps prevent unintentional injury from accidental rubbing of the eye. Sometimes weighted eyelid beads are introduced surgically into the upper eye lid to help close the eye. Usually, a corneal reflex is tested by gently touching the cornea with a piece of cotton pulled from the end of a cotton swab. In a child with CS, the corneal reflex should be attempted with caution—while the sensory arc ( V1) is theoretically normal, it will be absent in the presence of a peripheral facial palsy, as the child will be unable to close the eye. The facial nerve in CS may have a significantly aberrant course in CS, an important factor to be discussed with the surgeon if the child is being considered for a cochlear nerve implant (Coudert et al., 2019; Strömland et al., 2005; see Chapter 8). Transplants of nerves to replace an absent facial nerve have been performed in children with CS.

Cranial Nerve VIII: Vestibulocochlear Nerve Hearing: Cochlear Nerve-Auditory Branch Every part of the auditory system may be involved in CS, with the vast majority of individuals having hearing impairment. The prevalence of severe or profound hearing loss is about 50%, most commonly a sensorineural hearing loss. Middle ear ossicular anomalies and chronic middle ear infections can result in conductive losses. Underdevelopment of the cochlear structures results in hearing loss that is usually greatest in the high frequencies. Auditory nerve diameter may be decreased, which is associated with delayed processing of sound. Due to anomalous external ear development, children with CS are at risk for recurrent ear infections. (see Chapters 3 and 8) Vestibular: Balance and Equilibrium Semicircular canal anomalies are found in over 90% of individuals with CS. Balance is a significant problem in children with CS, not only due to abnormal vestibular function but also due to visual impairment and hypotonia (see Chapter 5).

Cranial Nerve IX: Glossopharyngeal Nerve The glossopharyngeal nerve carries sensory information from the middle ear, posterior third of the tongue, tonsils, and pharynx. It also supplies parasympathetic fibers to the parotid gland and carries visceral sensory information to the brain from the carotid sinus and the body organs. There has been little research on this nerve in CS, so we are unsure of its function or dysfunction in this population.

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Cranial Nerve X: Vagus Nerve The vagus nerve is the longest cranial nerve and the main parasympathetic nerve of the autonomic nervous system. It is another mixed sensory and motor nerve. The vagus nerve conveys sensory information from the organs of the body to the brain. Sensory fibers that innervate the pharynx, back of the throat, and larynx are responsible for the gag reflex. The parasympathetic nerves in­nervate the heart (slowing it down) and the viscera, especially the intestines. The vagus also innervates the pharyngeal plexus, a network innervating much of the palate and pharynx, as well as the larynx via the superior and recurrent laryngeal nerve. This accounts for its motor function. The degree of involvement of the vagus nerve in CS is not fully understood. See Chapter 10. Cranial Nerve XI: Spinal Accessory Nerve The spinal accessory nerve controls the movement of the neck and shoulder. This nerve has not been well researched in CS. Cranial Nerve XII: Hypoglossal Nerve The hypoglossal nerve innervates the majority of muscles of the tongue and controls tongue movements for speech, food manipulation, and swallowing. Most of the functions controlled by this nerve are voluntary, meaning they re­ quire conscious thought. Clinical Significance Tongue movement in CS appears to be mostly symmetrical. Some individuals with CS self-report having greater tongue strength on one side, but hypoglossal nerve aplasia or hypoplasia has not been reported. Children also report having difficulty manipulating food in the mouth with their tongues. This area requires more research.

BRAIN INVOLVEMENT IN CHARGE SYNDROME Structural brain abnormalities are found in many children with CS. Effects are related to extent and localization of involved areas (de Geus et al., 2017). The frequency of these abnormalities in individuals with CS ranges from 55% to 85%, but may be higher as they are not always investigated. The most com-

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11. Neurodevelopment     167 Table 11–2.  Range of Central Nervous System Malformations Brain Structure

Malformation

Forebrain defects

Arhinencephaly Holoprosencephaly (lobar) Encephalocele Cerebral dysgenesis (migrational abnormalities):   • Cerebral and cerebellar heterotopias  • Lissencephaly   • Other “gyral abnormalities” not specified

Hindbrain defects

Cerebral asymmetry:   • Complete or partial agenesis or hypoplasia of the corpus callosum   • Agenesis septum pellucidum   • Hippocampal hypoplasia or underrotation Cerebellar hypoplasia or asymmetry:   • Partial or complete agenesis of the vermis Dandy-Walker malformation Aqueductal stenosis Small brainstem Decreased white matter Pituitary or hypothalamic hypoplasia Decreased white matter

monly reported structural brain anomalies are forebrain anomalies, such as frontal lobe hypoplasia, followed by hindbrain abnormalities, such as cerebellar vermis hypoplasia (de Geus, Bergman, van Ravenswaaij-Arts, & Meiners, 2018; Donovan et al., 2017; Feng et al., 2017) (Table 11–2). Clival hypoplasia is almost ubiquitous in CS (de Geus et al., 2017; Mahdi & Whitehead, 2018). The range of reported findings and specific imaging recommendations for CS can be found in the 2017 article by de Geus and colleagues.

CLINICAL PROBLEMS Feeding and Swallowing A number of cranial nerves are vital to the coordination of chewing, sucking, and swallowing, including the trigeminal nerve ( V), facial nerve ( VII),

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glossopharyngeal nerve (IX), vagus nerve (X), and hypoglossal nerve (XII) (see Chapter 10). Speech Cranial nerves involved in speech include the trigeminal ( V), facial ( VII), ves­ tibulocochlear ( VIII), glossopharyngeal ( IX), vagus ( X), and hypoglossal ( XII) (see Part IV ). Nonepileptic and Epileptic Events Epileptic events and non-epileptic events that mimic seizures (in that they are also paroxysmal and may have features suggestive of a seizure) occur in up to 40% of children with CS. Among the most common are breath-holding spells, gastroesophageal reflux with secondary esophagitis (Sandifer syndrome), and night terrors. Children who have abnormal airways may develop airway obstruction that results in events that appear to be seizures. Evaluation of suspected seizures versus other paroxysmal events is a multistep process that includes evaluation by pediatrics, ENT, neurologists, and speech-language pathologists. Asking parents to videotape events of concern is invaluable in elucidating the underlying etiology. Sialorrhea (Excess Salivation) Sialorrhea (drooling or excessive salivation) is an extremely common problem in CS, though it is not specific to this population. Individuals with sialorrhea have decreased ability to control and swallow normally produced oral secretions, such that saliva pools and spills from the mouth and may be aspirated. There are numerous scales to assess and monitor the severity and frequency of sialorrhea, as well as the impact on the child and family. These are the Teacher Drooling Scale and the Drooling Impact Scale (Reid, Johnson and Reddihough, 2010). A wide range of treatments are available, including behavioral therapies and oral appliances, medications, Botox injections to salivary glands, and a variety of surgical procedures. Saliva Control in Children: An information Guide for Families and Clinicians (https://www.rch.org.au /uploadedFiles/Main/Content/plastic/salivabook.pdf ) is an excellent resource provided by the Royal Children’s Hospital, Melbourne. Pain The majority of children and adults with CHARGE experience physical pain, although it can be difficult to assess and localize (see Chapter 29). Parents

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become experts at identifying signs and symptoms that they associate with their child experiencing pain. Sudden behavioral regression is a common symptom of a child in pain, as is a change in sleep. Often, changes in behavior and demeanor are subtle, leading caregivers and providers to underestimate and/or undertreat pain. Physical pain and discomfort independently impact behavior, development, and adaptive functioning. Sources of pain in CS include essentially every system, including ear and sinus infections, a poorly fitting hearing aide, headaches and migraines, neck pain, gastroesophageal reflux, abdominal pain, hip and back pain, and procedural pain. A common misconception is that individuals with CS respond to pain differently or are less responsive to pain than those without CS. Some individuals do have a higher pain tolerance, perhaps because they began to experience pain when they were very young. In children with suspected pain, the CHARGE Non-Vocal Pain Assessment is very helpful (Stratton & Hartshorne, 2019; see Appendix). Headaches and Migraines It is likely that migraine, headache, and neck pain are frequently not recognized or underreported in CS. Migraines with and without aura have been identified in an adult and adolescent population with CS, and the question of possible trigeminal nerve (CN V ) involvement has been raised (Blake, SalemHartshorne, Daoud, & Gradstein, 2005). The pathophysiology of migraines is complex. Currently, primary nerve dysfunction drives a sequence of intra- and extracranial changes resulting in the four phases of migraines: premonitory symptoms, aura, headache, and postdrome. During this process, the trigeminal sensory nerves become active, in turn activating the trigeminovascular system (including sensory nerves from the trigeminal ganglion and upper cervical [neck] sensory nerve roots), which results in pain of the head and upper neck. In migraines with or without aura, one-sided head and eye pain is the most commonly reported type of pain, but it can also encompass both sides in younger children. Neck pain (Figure 11–3) involving the upper cervical nerves (C1–C2) can trigger pain receptors through the trigeminocervical complex, resulting in pain and autonomic symptoms (including conjunctival injection, eyelid ptosis or drooping lid, tearing, nasal congestion, and facial sweating) primarily in the V1 branch of the trigeminal nerve. Individuals with CS frequently have anatomical and developmental anomalies that predispose them to the “typical neck” appearance. These include skull base, cervical vertebral, and scalene muscle anomalies (Hoch et al., 2017). Typical features of migraines, such as light and sound sensitivity, may be exceedingly difficult to identify. Other features, such as a change in behavior, irritability, holding or tilting the head, grimacing, nausea, and vomiting, should suggest a migraine as a possible cause. Older children tend to have more classical presentation. Treatment can be challenging but follows the same guidelines as for children without CS: a quiet room, analgesics,

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Figure 11–3. Radiation pattern of cervical facet (neck) pain. From Hauser, R. A., Steilien, D., and Gordin, K. (2015). The biology of prolotherapy and its application in clinical cervical spine instability and chronic neck pain: A retrospective study. European Journal of Preventive Medicine, 3(3), 85–102. doi:10.11648/j.ejpm.20150304.11

antiemetics for nausea and vomiting, and a cool pad to the head. For children who have four or more disabling headaches monthly, regular prophylactic med­ ication is often needed. It is recommended that children and adults with suspected migraines be evaluated by a neurologist to assist with management. One of the authors (KB) has treated a 9-year-old with CS, unilateral facial palsy, and migraines with Botulinum toxin (Botox) injections to the orbicularis oris muscle (side of mouth) of the unaffected side with normal facial nerve function. The patient’s migraine headaches stopped for the next 4 months and then gradually returned. Botox has been used successfully about every 4 to 5 months and has continued to be successful since then. Abdominal migraines are an area that requires more investigation (see Chapter 10). Intellectual Outcomes When CHARGE was first identified, it was thought that the intellectual outcome was uniformly poor. We now know this is not true, and as with all aspects of CS, developmental outcome is on a continuum, ranging from severely impaired to above-normal intelligence (Raqbi et al., 2003; see Chapters 23 and 32). The degree of impairment and ultimate functioning depends on many factors, including severity of visual, hearing, and vestibular impairments, severity of cerebral dysgenesis, and other medical issues. Individuals with CS have shown amazing ways of adapting to their medical and sensory challenges (Blake et al., 2005; Souriau et al., 2005; see Chapter 20). Many children and adults with CS exhibit autistic-like behaviors that differ from behaviors found in typical autism spectrum disorder (ASD). These include better communication skills and more interest in social interaction. In recent literature on this topic, individuals with CS had less self-regulation

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and more ritualistic, stereotyped, and self-stimulation behaviors than individuals with ASD ( Vaivre-Douret, Hamiaux, & Abadie, 2018). Visual and motor impairment account for some of these behaviors, as children without CS who have a history of cortical visual impairment and motor problems also exhibit these behaviors. See Chapter 27.

FUTURE DIRECTIONS Much remains to be learned about the neurologic issues of children and adults with CHARGE syndrome. Some of the greatest disease burden in CS (beyond survival in infancy) comes from dysfunction of the cranial nerves (see Ta­ ble 11–1). Certain parts of the neurologic examination, such as assessment of visual fields, smell, strength of muscles of mastication, vestibular function, and trigeminal and vagus nerves, are particularly difficult to perform in infants and young children. This is independent of the added difficulty of assessing a child with limited communication skills. As a result, many cranial nerve deficits go unrecognized. There is a need to develop and validate standardized multidisciplinary assessment of infants and children with CS to facilitate all prospective clinical studies of this complicated condition. Defining a comprehensive neurologic evaluation protocol would be part of this multidisciplinary assessment. Standardization of the clinical and imaging assessment is expected to facilitate interdisciplinary collaboration and optimize the care and treatment of individuals with CS (de Geus et al., 2017). The CHARGE syndrome checklist (Trider, Arra‐Robar, van Ravenswaaij‐Arts, & Blake, 2017) is an invaluable resource to provide professionals and patients a reminder of the neurology issues that should be considered (see Appendix).

REFERENCES Adams, M. E., Hurd, E. A., Beyer, L. A., Swiderski, D. L., Raphael, Y., & Martin, D. M. (2007). Defects in vestibular sensory epithelia and innervation in mice with loss of Chd7 function: Implications for human CHARGE syndrome. Journal of Compara­ tive Neurology, 504(5), 519–532. Aramaki, M., Kimura, T., Udaka, T., Kosaki, R., Mitsuhashi, T., Okada, Y., . . . Kosaki, K. (2007). Embryonic expression profile of chicken CHD7, the ortholog of the causative gene for CHARGE syndrome. Birth Defects Research Part A: Clinical and Molecular Teratology, 79(1), 50–57. Bergman, J. E., Bocca, G., Hoefsloot, L. H., Meiners, L. C. , & Ravenswaaij‐Arts, C. M. (2011). Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome. Journal of Pediatrics, 158(3), 474–479.

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172     CHARGE SYNDROME Blake, K. D., Davenport, S. L. H., Hall, B. D., Hefner, M. A., Pagon, R. A., Williams, M. S., & Graham Jr, J. M. (1998). CHARGE association: An update and review for the primary pediatrician. Clinical Pediatrics, 37(3), 159–174. Blake, K. D., Hartshorne, T. S., Lawand, C., Dailor, A. N., & Thelin, J. W. (2008). Cranial nerve manifestations in CHARGE syndrome. American Journal of Medical Genetics Part A, 146(5), 585–592. Blake, K. D., & Prasad, C. (2006). CHARGE syndrome. Orphanet Journal of Rare Diseases, 1(1), 34. Blake, K. D., Salem-Hartshorne, N., Daoud, A., & Gradstein, J. (2005). Adolescent and adult issues in CHARGE syndrome. Clinical Pediatrics, 44(2), 151–159. Chai, M., Sanosaka, T., Okuno, H., Zhou, Z., Koya, I., Banno, S., . . . Kohyama, J. (2018). Chromatin remodeler CHD7 regulates the stem cell identity of human neu­ ral progenitors. Genes and Development, 32(2), 165–180. Coudert, A., Vigier, S., Scalabre, A., Hermann, R., Ayari‐Khalfallah, S., & Truy, E. (2019). Analysis of inner ear malformations associated with a facial nerve anomaly in 653 children fitted with a cochlear implant. Clinical Otolaryngology,  44(1), 96–101. de Geus, C. M., Bergman, J. E. H., van Ravenswaaij-Arts, C. M. A., & Meiners, L. C. (2018). Imaging of clival hypoplasia in CHARGE syndrome and hypothesis for development: A case-control study. American Journal of Neuroradiol­ ogy, 39(10), 1938–1942. de Geus, C. M., Free, R. H., Verbist, B. M., Sival, D. A., Blake, K. D., Meiners, L. C., & van Ravenswaaij‐Arts, C. M. (2017). Guidelines in CHARGE syndrome and the missing link: Cranial imaging. American Journal of Medical Genetics Part C: Semi­ nars in Medical Genetics, 175(4), 450–464. Donovan, A., Yu, T., Ellegood, J., Riegman, K. L., de Geus, C., van Ravenswaaij-Arts, C., . . . Basson, M. A. (2017). Cerebellar vermis and midbrain hypoplasia upon conditional deletion of Chd7 from the embryonic mid-hindbrain region. Frontiers in Neuroanatomy, 11, 86. Feng, W., Kawauchi, D., Körkel-Qu, H., Deng, H., Serger, E., Sieber, L., . . . Liu, H. K. (2017). Chd7 is indispensable for mammalian brain development through activation of a neuronal differentiation programme. Nature Communications, 8(1), 1–14. Hale, C. M., Niederriter, A. N., Green, G. E., Martin, D. M. (2016) Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria. American Journal of Medical Genetics Part A. 170A(2)344-354 Hoch, M. J., Patel, S. H., Jethanamest, D., Win, W., Fatterpekar, G. M., Roland, J. T., & Hagiwara, M. (2017). Head and neck MRI findings in CHARGE syndrome. Ameri­ can Journal of Neuroradiology, 38(12), 2357–2363. Lasserre, E., Vaivre-Douret, L., & Abadie, V. (2013). Psychomotor and cognitive impairments of children with CHARGE syndrome: Common and variable features. Child Neuropsychology, 19(5), 449–465. Layman, W. S., McEwen, D. P., Beyer, L. A., Lalani, S. R., Fernbach, S. D., Oh, E., . . . Martin, D. M. (2009). Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome. Human Molecular Genetics, 18(11), 1909–1923. Mahdi, E. S., & Whitehead, M. T. (2018). Clival malformations in CHARGE syndrome. American Journal of Neuroradiology, 39(6), 1153–1156.

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11. Neurodevelopment     173 McMain, K., Robitaille, J., Smith, I., Johnson, J., Wood, E., Tremblay, F., & Blake, K. D. (2008). Ocular features of CHARGE syndrome. Journal of American Association for Pediatric Ophthalmology and Strabismus, 12(5), 460–465. O’Rahilly, R., & Muller, F. (2007). The development of the neural crest in the human. Journal of Anatomy, 211(3), 335–351. Pauli, S., Bajpai, R., & Borchers, A. (2017). CHARGED with neural crest defects. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(4), 478–486. Pinto, G., Abadie, V., Mesnage, R., Blustajn, J., Cabrol, S., Amiel, J., . . . Netchine, I. (2005). CHARGE syndrome includes hypogonadotropic hypogonadism and ab­ normal olfactory bulb development. Journal of Clinical Endocrinology and Meta­b­ olism, 90(10), 5621–5626. Raqbi, F., Le Bihan, C., Morisseau-Durand, M. P., Dureau, P., Lyonnet, S., & Abadie, V. (2003). Early prognostic factors for intellectual outcome in CHARGE syndrome. Developmental Medicine and Child Neurology, 45(7), 483–488. Reid, S. M., Johnson, H. M., Reddihough, D. H. (2010) The Drooling Impact Scale: a measure fo the impact of drooling in children with developmental disabilities. Developmental Medicine & Child Neurology 52:e23-e28 Souriau, J., Gimenes, M., Blouin, C., Benbrik, I., Benbrik, E., Churakowskyi, A., & Churakowskyi, B. (2005). CHARGE syndrome: Developmental and behavioral data. American Journal of Medical Genetics Part A, 133(3), 278–281. Stratton, K. K., & Hartshorne, T. S. (2010). Experiencing stress in CHARGE. In T.S. Hartshorne, M. A. Hefner, S. L. H. Davenport, & J. Thelin (Eds.), CHARGE syn­ drome. San Diego, CA: Plural Publishing. Stratton, K. K., & Hartshorne, T. S. (2019). Identifying pain in children with CHARGE syndrome. Scandinavian Journal of Pain, 19(1), 157–166. Strömland, K., Sjögreen, L., Johansson, M., Ekman Joelsson, B. M., Miller, M., Danielsson, S., . . . Granström, G. (2005). CHARGE association in Sweden: Malformations and functional deficits. American Journal of Medical Genetics Part A, 133(3), 331–339. The Royal Children’s Hospital Melbourne. Saliva control in children: An informa­ tion guide for families and clinicians. Retrieved from https://www.rch.org.au /uploadedFiles/Main/Content/plastic/salivabook.pdf Trider, C. L., Arra‐Robar, A., van Ravenswaaij‐Arts, C., & Blake, K. D. (2017). Developing a CHARGE syndrome checklist: Health supervision across the lifespan (from head to toe). American Journal of Medical Genetics Part A, 173(3), 684–691. Vaivre-Douret, I., Hamiaux, P, & Abadie, V. (2018). A critical review of autism spectrum disorders in CHARGE syndrome. Journal of Translational Science, 5, 1–5. Vissers, L. E., van Ravenswaaij, C. M., Admiraal, R, Hurst, J. A., de Vries, B. B. . . . van Kessel, A. G. (2004) Mutations in a new member of the chromodomain gene family cause CHARGE sydnrome. Nature Genetics 36(9):955-7. Williams, M. S. (2005). Speculations on the pathogenesis of CHARGE syndrome. Amer­ ican Journal of Medical Genetics Part A, 133(3), 318–325.

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CHAPTER 12

Cardiovascular System KARTHIK THANGAPPAN, ALEXANDER HATTON, and DAVID LUÍS SIMÓNE MORALES

INTRODUCTION Congenital heart defects (CHDs) are alterations of the structure of the heart during prenatal development. They play an important role in CHARGE syndrome (CS), as they are frequent, impact treatment, and help determine prognosis. Approximately 75% to 80% of children with CS have congenital heart defects (Blake & Prasad, 2006). The complexity of these defects can range from simple vascular rings, to atrial or ventricular septal defects, to complex defects such as tetralogy of Fallot and/or atrioventricular canal defects requiring surgical correction. Originally, the presence of CHDs was a major diagnostic criterion of CS. As the diagnostic criteria evolved over the years, it was recognized that congenital heart defects were less specific to the syndrome. In 2009, CHDs were thus shifted to a minor diagnostic criterion (Lalani, Hefner, Belmont, & Davenport, 2009). Despite this, CHDs remain a major cause of mortality and morbidity for individuals with CS and thus require close monitoring and understanding (Blake & Prasad, 2006).

DEFINITIONS Before understanding the importance of CHDs in CHARGE, it is worth knowing about the normal heart and CHDs in the general population. The heart 175

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has four chambers. The right atrium receives deoxygenated blood from the body, which then passes through the tricuspid valve (a one-way doorway) to the right ventricle that pushes the deoxygenated blood to the lungs. The left atrium receives oxygenated blood from the lungs, which passes through the mitral valve (another one-way doorway) to the left ventricle that pushes the oxygenated blood to the body. The atria and ventricles share a common wall that separates them called the atrial and ventricular septum, respectively. We encourage readers to seek out publically available educational tools such as the Cincinnati Children’s Hospital Medical Center Heart Institute’s Heart Encyclopedia. This resource is available to the public without restriction and contains several diagrams and videos explaining both the normal heart and various abnormal heart conditions. The Heart Encyclopedia can be reached using the following link: https://www.cincinnatichildrens.org/patients/child /encyclopedia. Additionally, Cincinnati Children’s YouTube channel has num­ erous videos illustrating various cardiac surgeries step-by-step with easy-tofollow narration and animation. This can be accessed using the following link: https://www.youtube.com/user/CincinnatiChildrens. Heart disease in general can encompass a number of disorders, including cardiomyopathy (heart muscle disease), arrhythmias, coronary artery disease, and so on. CHDs specifically encompass congenital structural malformations and the focus of this chapter. CHDs are typically grouped by (a) specific defect location—atrium, ventricle, valve, septum, and so on; (b) what the defect is of that structure—a hole between chambers, a passageway or valve being too small, and so on; and (c) how it alters blood flow. Blood flow can shunt from right to left heart, causing too little oxygenated blood (cyanotic) or left to right heart, causing too much blood flow to the lungs, or both ways (mixing), causing attributes of both right-to-left and left-to-right shunting. The most common defects displayed in the CHARGE population are atrial or ventricular septal defects and conotruncal malformations (Corsten-Janssen et al., 2013). These septal defects are holes in the common walls (septums) dividing the atria or ventricles, which typically lead to blood shunting from the left heart to the right heart. Conotruncal malformations are malformations of the great arteries (aorta and pulmonary arteries). For example, tetralogy of Fallot is a conotruncal malformation consisting of a ventricular septal defect, pulmonary valve narrowing (stenosis), an aorta that starts to go into the right ventricle (overriding aorta), and a thickened right ventricular wall (hypertrophy). However, while CHDs are common in CS, the majority of patients with these heart defects do not have CS ( Wyse, Al-Mahdawi, Burn, & Blake, 1993). To further explore CHDs and their effects on the heart, we encourage readers to seek out interactive educational public resources such as the Heartpedia free mobile application. Developed and formatted by Cincinnati Children’s Hospital Medical Center, this interactive application explains common congenital heart disease defects, as well as the repairs using three-dimensional (3D) digital models, to both medical professionals and patient families. For more specific information and interactive models of CHDs, readers are en-

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couraged to download the free mobile phone application from the Apple App store or the Google Play Store.

DIAGNOSING CONGENITAL HEART DEFECTS IN CHARGE Types of Congenital Heart Defects in CHARGE The reported frequency of CHDs in patients with clinically diagnosed CHARGE varies from about 65% to 85% (Table 12–1). All types of CHDs, have been reported in CS, varying from mild to severe symptoms depending on the type and severity of the defect present (Figure 12–1). Conotruncal and aortic arch CHDs are reported more frequently in CHARGE patients when compared to a population-based study of newborns with CHD (Ferencz, Loffredo, CorreaVillasenor, & Wilson, 1997; Lalani et al., 2005).

Figure 12–1. Common congenital heart defects in CHARGE: (A) Atrioventricular canal defect. (B) Conotruncal abnormalities such as truncus arteriosus (right). Images from Heartpedia mobile application. We would like to acknowledge the creators of the Heartpedia mobile application and Surgical Animate! mobile application for crafting the three-dimensional heart model content displayed in this chapter. Cincinnati Children’s Media Lab (ML) in collaboration with The Heart Insti­­ tute at Cincinnati Children’s (HI): Jeff Cimprich BFA (ML), Ryan A. Moore MD MSc (HI/ML), David L.S. Morales MD (HI), Matt Nelson BFA (ML), Michael Taylor MD PhD (HI), and Ken Tegtmeyer MD (ML).

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36

65%

# with CHD

% with CHD

64%

34

53

2

84%

42

50

3

80%

47

59

4

85%

40

47

5

84%

65

77

6

+92% *71%

+54/59 *30/42

110

7

+66%

+70

107

8

+76%

+13

17

9

+71% *67%

+ 15/21 *6/9

30

10

+76%

+191/252

280

11

+78%

+14

18

12

+74%

+221

299

13

+ 65%, *100%

+11/17 *4/4

25

14

+33%

+4

12

15

CHD7-positive (+) and CHD7-negative (*), All With Clinical Diagnosis

+89%

+8

9

16

Note: + = patients with CHD7 mutation detected. * = patients with clinical diagnosis but CHD7 mutation not detected. 1. Cyran, Martinez, Daniels, Dignan, & Kaplan, 1987; 2. Lin, Chin, Devine, Park, & Zackai, 1987; 3. Blake, Russell-Eggitt, Morgan, Ratcliffe, & Wyse, 1990; 4. Wyse et al., 1993; 5. Tellier et al., 1998; 6. Issekutz, Graham Jr, Prasad, Smith, & Blake, 2005; 7. Lalani et al., 2005; 8. Jongmans et al., 2006; 9. Aramaki et al., 2006; 10. Wincent et al., 2008; 11. Bergman et al., 2011; 12. Husu et al., 2013; 13. Cortsen-Janssen et al., 2013; 14. Shoji et al., 2014; 15. Busa et al., 2016 16. Cheng, Luk, Chan, & Lo, 2020.

55

1

Total # patients

Study

Clinically Diagnosed (Pre-CHD7)

Table 12–1.  Frequency of Congenital Heart Defects (CHDs) in CHARGE Syndrome

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Diagnosis CHD7 is the gene that has been associated with CHARGE syndrome ( Vissers et al., 2004). CHD7 mutations are detected in approximately two-thirds of individuals clinically diagnosed with CS (Moss, Allen, & Ovid Technologies Inc., 2008; Wincent et al., 2008). The availability of molecular testing for CHD7 has not altered the reported frequency of CHDs in these patients significantly (Aramaki et al., 2006; Jongmans et al., 2006; Table 12–1), although in a comparative study, Lalani et al. (2005) noted CHDs in 92% of those positive for CHD7 but only in 71% of individuals clinically diagnosed without an identified mutation. Interestingly, no difference existed among the types of CHDs in those with and without identified mutations. Only patent ductus arteriosus (PDA) was more common in patients with CHD7 mutations (Lalani et al., 2005). The ductus arteriosus is a blood vessel in a fetus that connects the pulmonary artery to the aorta, allowing blood to bypass the lungs and go directly from the heart to the rest of the body. Physiologically, this is preferred during the prenatal period since oxygenated blood for the fetus comes from the mother rather than the nonfunctioning fetal lungs. After birth, the lungs become the source of blood oxygenation, so the ductus arteriosus is no longer needed and usually closes on its own. When this does not occur and it remains open, it is called patent ductus arteriosus. Although CHDs are common in patients with CS with CHD7 mutations, CHD7 mutations are not shown to be a cause of CHDs in patients without CS (Corsten‐Janssen et al., 2014). The CHD7 protein is involved in the embryological development of the great vessels, atrioventricular cushions, and septation of the heart, but there does not appear to be any correlation between the specific mutation and type of heart defect (Corsten‐Janssen & Scambler, 2017).

CARDIOLOGY EVALUATION AND MANAGEMENT When CHARGE syndrome is first suspected clinically, a pediatric cardiologist should be included in the care team. A genetics consult should also be obtained in all patients with suspected CS. An in-depth cardiology evaluation needs to be performed in all patients with suspected or confirmed CS. If CHDs were found by fetal echocardiogram prior to birth, this should have postnatal confirmation using two-dimensional echocardiography (ECHO) with Doppler interrogation, which also assists specifically with viewing the aortic arch and vascular rings. This is invaluable given that conotruncal and aortic arch CHDs are among the most common seen in this syndrome. The cardiology evaluation will encompass both a physical examination and determination of which imaging studies need to be obtained. All cardiology evaluations should include auscultation, blood pressure measurements,

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and appropriate imaging techniques. Chest radiography (CXR) and electrocardiography (ECG, previously known as EKG) should be routinely performed. Magnetic resonance imaging (MRI)/magnetic resonance angiography (MRA) may be selectively used if improved imaging of structures such as the distal pulmonary arteries and/or descending aorta is needed. Cardiac catheterization (Cath), while a more invasive test, may also provide information about intracardiac pressures by chamber and structural anomalies as well as provide a means for interventions when needed. Stress testing may be performed to determine the extent of the patient’s exercise capabilities, especially during their transition to adulthood. Holter monitors may be used to detect and diagnose cardiac arrhythmias if they are suspected in these patients. Tilt-table testing is used to diagnose postural orthostatic tachycardia syndrome (POTS) which can be seen in this patient population as they get older. POTS may be suspected when the heart rate increases excessively upon standing up from a laying down position. A child with CS with a CHD that does not require surgery but needs pharmacologic support might require an inpatient hospital stay to receive intravenous infusion of medications to support cardiac function and/or blood pressure. Long-Term Management As with any individual with CHD, the combination of history, physical examination, and appropriate imaging studies will determine the patient’s prognosis as well as specific treatment and follow-up plans. Of note, no known degenerative heart defects have been reported to date in individuals with CS. Therefore, no routine cardiology follow-up is needed for adults with CS who have had a normal cardiology evaluation in infancy. Given that the data are still limited on adult survivors with CS, the possibility of later onset cardiac disease should be kept in the clinical observation and management.

CARDIAC SURGERY MANAGEMENT An individual with CHARGE with a CHD should be cared for by an experienced cardiology team, which may also include a cardiac surgeon. Patients with interrupted aortic arch and/or truncus arteriosus require cardiac surgery during the birth admission as a nonemergent case and represent a subset of patients who should be evaluated for possible DiGeorge sequence (cardiac defect and thymus abnormality) as a developmental phenotype. Affected individuals should be evaluated by an endocrinologist and immunologist at the time of diagnosis (Blake et al., 1998; Shprintzen, 2005). Testing for B- and T-cell dysfunction as well as calcium deficiency during the endocrinology evaluation is advised for those individuals.

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When required, surgery will be timed based on the anatomic defect, the child’s overall health (including nutritional state and functional status), other noncardiac congenital defects, and other surgical considerations (e.g., prematurity). Approximately 70% of patients with CS have a major CHD that requires surgery (Blake et al., 1990). CHDs with large shunts, such as a large septal defect, are often repaired before the first birthday to minimize resultant pulmonary vascular disease. The outcomes and risks associated with heart surgery in CS depend on the type of CHD, the type of surgery, and the presence of coexisting serious health problems, especially choanal atresia, trachea-esophageal atresia, and/or cleft lip/palate. In general, the more clinically involved the CHD, the more necessary and sooner a cardiac surgery is required to resolve the issue. Coordination of heart surgery with the other procedures and the sequence in which these procedures/surgeries should be done requires an experienced multidisciplinary team for the best overall outcome for these patients. Surgical and Anesthetic Complications Several observations about surgery and anesthesia in individuals with CHARGE should be kept in mind in the perioperative period. Neonates who have congenital heart disease and who are also found to have genetic abnormalities including CS are known to have a higher risk of postoperative complications and a longer hospital length of stay (Simsic, Coleman, Maher, Cuadrado, & Kirshbom, 2009). Children with CS have had unusual reactions to anesthesia and should be monitored closely. Those with a structurally abnormal airway (e.g., choanal atresia, stenosis, laryngomalacia, tracheo-esophageal fistula, malformed larynx, see Chapter 9) have an added risk for anesthesia, especially postoperative complications, and may require tracheostomy before discharge home, even after the CHD is repaired (Blake et al., 2009; Naito et al., 2007). Swallowing problems and increased secretions may present a risk of aspiration, which negatively impacts the lungs and complicates postoperative care. This is especially true for patients with esophageal atresia who cannot be primarily repaired in the birth admission. Interestingly, botulinum toxin, or Botox, injections into salivary glands have been shown to decrease oral secretions in CS and reduce the chance of aspiration-related complications (Blake, MacCuspie, & Corsten, 2012). Cardiac procedures involving the aortic arch specifically may pose an increased risk to morbidity relating to swallowing and aspiration due to compression of the esophagus and/or trachea (Corsten-Janssen, van Ravenswaaij-Arts, & Kapusta, 2016). Some children have been reported to be resistant to chloral hydrate sedation, which is sometimes used during echocardiography. Whether this is increased above the frequency seen in other children with dually diagnosed psychomotor and visual challenges is unknown. An additional respiratory risk may be an increased susceptibility to and/or increased severity of respiratory

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illnesses such as respiratory syncytial virus (RSV ). Immunoprophylaxis against RSV is recommended in hemodynamically relevant shunts and in uncorrected cyanotic CHDs (Cohen et al., 2008). The increased risk of perioperative airway events due to anesthesia in these patients is amplified by the high number of surgeries this patient population often requires (Blake et al., 2009). Steps should be taken to coordinate diagnostic tests and procedures requiring the use of anesthesia. After cardiac surgery, appropriately active coordination of procedures can reduce the use of anesthesia by at least 25% and may help to maintain feeding capabilities and reduce morbidity and mortality. Another potential complication involves the kidneys. About 30 to 40% of children with CS have kidney abnormalities (Legendre et al., 2017, Tellier et al., 1998; see Chapter 13). Pediatric cardiac surgery using cardiopulmonary bypass can be complicated by acute kidney injury (AKI) occurring in about 40% of cases (Li et al., 2011). While usually mild, the more moderate and severe forms are often associated with increased mortality. Thus, for individuals with CS with CHDs, development of AKI is likely a significant risk of undergoing cardiac surgery. Postoperative and Long-Term Management The child with CHARGE who is hospitalized for an extended period generally experiences a great amount of physical and developmental stress, especially if undergoing major cardiac surgery. In particular, those children with significant visual impairments may have disturbances of their sleep cycle. Although most modern pediatric hospitals are adapted to tailoring care for developmental and sensory challenges, there is always the possibility that milestones may be lost during the extended and possibly frequent inpatient stays. Awareness by patient families of this possible phenomenon and recognition that setbacks may be temporary should be helpful in dealing with the developmental and psychological aspects of cardiac surgery in these patients. Especially when unrepaired CHDs are associated with congestive heart failure or chronic cyanosis, slow growth may be an issue for patients in this population. Even beyond the acute postoperative period, failure to thrive may occur; however, cardiac problems may not be the sole cause. Other causes may include feeding problems, frequent illnesses (especially chronic otitis media and respiratory infections such as RSV), and possibly growth hormone deficiency. It is important that a dietician be part of the patient’s long-term care in order to optimize nutritional intake and maximize potential for growth and development. Older individuals with CS who have had surgical correction or who are still being treated must remain under the care of a pediatric cardiologist. Individuals diagnosed with a clinically mild CHD, such as a small atrial or ventricular septal defect, that did not require surgical correction should still have

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a cardiology evaluation even if they are asymptomatic. Approaching adulthood, families should anticipate the transition from a pediatric to an adult congenital cardiologist. These are cardiologists who specialize in adults with congenital heart disease (repaired and unrepaired) and have been trained in pediatric and adult cardiology. Though patients with CS with CHD are a chal­ lenging population, their outcomes, in general, can be quite encouraging with thoughtful coordination and execution of therapeutic strategies by a multidisciplinary team, ideally one that specializes in CHARGE syndrome.

REFERENCES Aramaki, M., Udaka, T., Kosaki, R., Makita, Y., Okamoto, N., Yoshihashi, H., . . . Kosaki, K. (2006). Phenotypic spectrum of CHARGE syndrome with CHD7 mutations. Journal of Pediatrics, 148(3), 410–414. Bergman, J. E., Janssen, N., Hoefsloot, L. H., Jongmans, M. C., Hofstra, R. M., & van Ravenswaaij-Arts, C. M. A. (2011). CHD7 mutations and CHARGE syndrome: The clinical implications of an expanding phenotype. Journal of Medical Genetics, 48(5), 334–342. Blake, K. D., Davenport, S. L., Hall, B. D., Hefner, M. A., Pagon, R. A., Williams, M. S., . . . Graham, J. M., Jr. (1998). CHARGE association: An update and review for the primary pediatrician. Clinical Pediatrics, 37(3), 159–173. Blake, K. D., MacCuspie, J., & Corsten, G. (2012). Botulinum toxin injections into salivary glands to decrease oral secretions in CHARGE syndrome: Prospective case study. American Journal of Medical Genetics Part A, 158(4), 828–831. Blake, K., MacCuspie, J., Hartshorne, T. S., Roy, M., Davenport, S. L., & Corsten, G. (2009). Postoperative airway events of individuals with CHARGE syndrome. Inter­ national Journal of Pediatric Otorhinolaryngology, 73(2), 219–226. Blake, K. D., & Prasad, C. (2006). CHARGE syndrome. Orphanet Journal of Rare Diseases, 1(1), 34. Blake, K. D., Russell-Eggitt, I. M., Morgan, D. W., Ratcliffe, J. M., & Wyse, R. K. (1990). Who’s in CHARGE? Multidisciplinary management of patients with CHARGE association. Archives of Disease in Childhood, 65(2), 217–223. Busa, T., Legendre, M., Bauge, M., Quarello, E., Bretelle, F., Bilan, F., . . . Philip, N. (2016). Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome. Prenatal Diagnosis, 36(6), 561–567. Cheng, S. S. W., Luk, H. M., Chan, D. K. H., & Lo, I. F. M. (2020). CHARGE syndrome in nine patients from China. American Journal of Medical Genetics Part A, 182 (1), 15–19. Cohen, S. A., Zanni, R., Cohen, A., Harrington, M., VanVeldhuisen, P., & Boron, M. L. (2008). Palivizumab use in subjects with congenital heart disease. Pediatric Car­ diology, 29(2), 382–387. Corsten-Janssen, N., Kerstjens-Frederikse, W. S., du Marchie Sarvaas, G. J., Baardman, M. E., Bakker, M. K., Bergman, J. E., . . . Kapusta, L. (2013). The cardiac phenotype in patients with a CHD7 mutation. Circulation: Cardiovascular Genetics, 6(3), 248–254.

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184     CHARGE SYNDROME Corsten-Janssen, N., du Marchie Sarvaas, G. J., Kerstjens-Frederikse, W. S., Hoefsloot, L. H., van Beynum, I. M., Kapusta, L., & van Ravenswaaij-Arts, C. M. A. (2014). CHD7 mutations are not a major cause of atrioventricular septal and conotruncal heart defects. American Journal of Medical Genetics Part A, 164(12), 3003–3009. Corsten-Janssen, N., & Scambler, P. J. (2017). Clinical and molecular effects of CHD7 in the heart. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(4), 487–495. Corsten-Janssen, N., van Ravenswaaij-Arts, C. M. A., & Kapusta, L. (2016). Congenital arch vessel anomalies in CHARGE syndrome: A frequent feature with risk for comorbidity. International Journal of Cardiology Heart and Vasculature, 12, 21–25. Cyran, S. E., Martinez, R., Daniels, S., Dignan, P. S., & Kaplan, S. (1987). Spectrum of congenital heart disease in CHARGE association. Journal of Pediatrics, 110(4), 576–578. Ferencz, C., Loffredo, C. A., Correa-Villasenor, A., & Wilson, P. D. (1997). Genetic and environmental risk factors of major congenital heart disease: The BaltimoreWashington Infant Study 1981–1989. Perspectives in Pediatric Cardiology, 5, 370–371. Husu, E., Hove, H. D., Farholt, S., Bille, M., Tranebjaerg, L., Vogel, I., & Kreiborg, S. (2013). Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome. Clinical Genetics, 83(2), 125–134. Issekutz, K. A., Graham, J. M., Jr., Prasad, C., Smith, I. M., & Blake, K. D. (2005). An epidemiological analysis of CHARGE syndrome: Preliminary results from a Canadian study. American Journal of Medical Genetics Part A, 133(3), 309–317. Jongmans, M. C. J., Admiraal, R. J., van der Donk, K. P., Vissers, L. E. L. M., Baas, A. F., Kapusta, L., . . . van Ravenswaaij-Arts, C. M. A. (2006). CHARGE syndrome: The phenotypic spectrum of mutations in the CHD7 gene. Journal of Medical Genet­ ics, 43(4), 306–314. Lalani, S. R., Hefner, M., Belmont, J. W., & Davenport, S. L. H. (2009). CHARGE syn­ drome. In M. P. Adam, H. H. Ardinger, R. A. Pagon, & S. E. Wallace (Eds.), Gene­ Reviews. Seattle, WA: University of Washington. Retrieved from https://www.ncbi .nlm.nih.gov/books/NBK1117/ Lalani, S. R., Safiullah, A. M., Fernbach, S. D., Harutyunyan, K. G., Thaller, C., Peterson, L. E., . . . Belmont, J. W. (2005). Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. American Journal of Human Genetics, 78(2), 303–314. Legendre, M., Abadie, V., Attié-Bitach, T., Phillip, N., Busa, T,. . . . Gilbert-Dussardier, B. (2017) Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome. American Journal of Medical Genetics Part C: Semi­ nars in Medical Genetics, 175C, 417–430. Li, S., Krawczeski, C. D., Zappitelli, M., Devarajan, P., Thiessen-Philbrook, H., Coca, S. G., . . . Parikh, C. R. (2011). Incidence, risk factors, and outcomes of acute kidney injury after pediatric cardiac surgery—A prospective multicenter study. Critical Care Medicine, 39(6), 1493. Lin, A. E., Chin, A. J., Devine, W., Park, S. C., & Zackai, E. (1987). The pattern of cardiovascular malformation in the CHARGE association. American Journal of Diseases of Children, 141(9), 1010–1013. Moss, A. J., Allen, H. D., & Ovid Technologies Inc. (2008). Moss and Adams’ heart dis­ ease in infants, children, and adolescents: Including the fetus and young adult (7th ed.). Philadelphia, PA: Lippincott Williams & Wilkins.

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12. Cardiovascular System     185 Naito, Y., Higuchi, M., Koinuma, G., Aramaki, M., Takahashi, T., & Kosaki, K. (2007). Upper airway obstruction in neonates and infants with CHARGE syndrome. Amer­ ican Journal of Medical Genetics Part A, 143(16), 1815–1820. Shoji, Y., Ida, S., Etani, Y., Yamada, H., Kayatani, F., Suzuki, Y., . . . Okamoto, N. (2014). Endocrinological characteristics of 25 Japanese patients with CHARGE syndrome. Clinical Pediatric Endocrinology, 23(2), 45–51. Shprintzen, R. J. (2005). Velo-cardio-facial syndrome. Progress in Pediatric Cardiol­ ogy, 20, 187–193. Simsic, J. M., Coleman, K., Maher, K. O., Cuadrado, A., & Kirshbom, P. M. (2009). Do neonates with genetic abnormalities have an increased morbidity and mortality following cardiac surgery? Congenital Heart Disease, 4(3), 160–165. Tellier, A. L., Cormier-Daire, V., Abadie, V., Amiel, J., Sigaudy, S., Bonnet, D., . . . Lyonnet, S. (1998). CHARGE syndrome: Report of 47 cases and review. American Journal of Medical Genetics, 76(5), 402–409.  Vissers, L. E., van Ravenswaaij, C. M. A., Admiraal, R., Hurst, J. A., de Vries, B. B., Janssen, I. M., . . & van Kessel, A. G. (2004). Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nature Genetics, 36(9), 955–957. Wincent, J., Holmberg, E., Strömland, K., Soller, M., Mirzaei, L., Djureinovic, T., . . . Schoumans, J. (2008). CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome. Clinical Genetics, 74(1), 31–38. Wyse, R. K., Al-Mahdawi, S., Burn, J., & Blake, K. (1993). Congenital heart disease in CHARGE association. Pediatric Cardiology, 14(2), 75–81.

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CHAPTER 13

Renal and Urinary Systems MICHAEL DAUGHERTY and PRAMOD P. REDDY

INTRODUCTION CHARGE syndrome (CS) is a genetic disorder that is associated with multiple anomalies in multiple parts of the body (Blake & Prasad, 2006). The involvement of the genitalia, kidneys, and bladder in patients with CS can be as high as 70%, with the involvement of the external genitalia being more frequent (Ragan, Casale, Rink, Cain, & Weaver, 1999; see Chapter 14). The involvement of the genitalia is more common in boys than in girls (Ragan et al., 1999).

EMBRYOLOGY Normal Renal and Urinary Anatomy and Function The normal urinary system is composed of two kidneys, one on each side of the body towards the back. The main function of the kidneys is to get rid of the waste and excess fluid from the body. The kidneys help to maintain a proper balance of water and electrolytes in the body and are critical to 187

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proper health. The kidneys filter blood to remove chemicals and toxins from the body and produce urine. The urine moves into the collecting system of the kidney and then into a funnel called the renal pelvis, located in the middle of the kidney. The renal pelvis connects to a tube called the ureter, which drains the urine into the bladder. The ureter enters the bladder through a valve mechanism that is supposed to only allow the flow of urine in one direction: from the kidney into the bladder. The bladder stores the urine until it is time to be emptied via urination. The urethra is a tube that connects to the bladder and is the pathway by which the urine travels out of the body during normal urination. The kidneys begin to develop between 5 and 8 weeks after conception. As the kidney is developing, the portion that becomes the ureter also gets longer and develops multiple branches. These branches become the start of the collecting system and renal pelvis. The bladder forms lower in the pelvis and has an inner lining (mucosa) that will be in contact with urine. The mucosa is surrounded by a muscle called the detrusor. The ureter enters into the bladder, and a portion of the ureter passes between the detrusor and the mucosa right before it drains into the bladder. The valve that only allows for urine to drain into the bladder is created by the ureter passing between the detrusor and the mucosa. When the valve mechanism is not properly formed, urine can flow backward from the bladder, into the ureter, and up to the kidney. This is called vesicoureteral reflux (NOT to be confused with acid reflux, which occurs when secretions leave the stomach and enter into the esophagus/food pipe).

Genitourinary Features in CHARGE Syndrome Genital Abnormalities in CHARGE Syndrome Genital abnormalities are identified more commonly in males, as minor anomalies in females are often missed or overlooked (see Chapter 14).

Male Genital Abnormalities n Micropenis (small, underdeveloped penis) n Cryptorchidism (testicles are not in the scrotum) n Delayed pubertal development

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Female Genital Abnormalities n Underdevelopment of the labia n Delayed pubertal development

Urinary Abnormalities in CHARGE Syndrome Kidney Abnormalities.  Abnormalities of the urinary tract are seen in 20% to 40% of patients with CS (Legendre et al., 2017; Tellier et al., 1998). These include a range of developmental abnormalities, from an absent kidney to a duplicated kidney. An absent kidney occurs when the two types of cells that are supposed to meet to become the kidney and ureter never actually come close enough to each other. A duplicated kidney occurs when the cells that become the ureter branch too early before meeting the kidney cells, resulting in two tubes/ureters heading down to the bladder on the affected side. Kidney and ureter abnormalities reported in CS are listed in Table 13–1. Abnormalities in the kidney are frequently seen in individuals who have a facial palsy. Often, the facial palsy is on the same side as the kidney abnormality (Blake & Prasad, 2006; Blake, Russell-Eggitt, Morgan, Ratcliffe, & Wyse, 1990). Bladder Abnormalities.  When the valve mechanism that keeps urine flowing in one direction into the bladder does not develop properly, it can lead

Table 13–1.  Conditions Affecting the Genitourinary Tract in CHARGE Syndrome Condition

Description

Micropenis

Underdeveloped penis in boys

Cryptorchidism

Undescended testicle (can be one or both)

Hypoplastic labia

Underdeveloped labia in girls

Vesicoureteral reflux

Backward flow of urine from the bladder to the kidney

Hypoplastic kidney or solitary kidney

Small underdeveloped kidney or absent kidney

Ectopic kidney

Kidney not in normal location Continued

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190     CHARGE SYNDROME Table 13–1.  Continued Condition

Description

Pelvic kidney

Kidney located close to the bladder instead of its normal location

Horseshoe kidney

Both kidneys are joined together

Renal duplication

The kidney has two sets of tubes heading to the bladder

Hydronephrosis

Swelling of the kidney due to retained urine in the collecting system

Multicystic dysplastic kidney

Poorly functioning abnormally formed kidney with fluid-filled cysts

to vesicoureteral reflux. This occurs in about 10% to 20% of patients with CHARGE (Ragan et al., 1999; Tellier et al., 1998; Legendre et al., 2017). Vesicoureteral reflux occurs when urine flows backward into the ureter from the bladder, often during voiding. Reflux is graded on a scale of 1 (mild) to 5 (severe). Reflux itself is not necessarily harmful, but it can put someone at a higher risk of developing a urinary tract infection (UTI). In addition, the bladder may incompletely empty during voiding, and this residual urine can also increase the risk of a UTI.

DIAGNOSIS The abnormalities involving the external genitalia can often be diagnosed by a careful and detailed examination of the newborn baby. This should be undertaken in all newborns suspected of having CS. Thereafter, more sophisticated testing can be obtained to understand the health of the internal organs. The first diagnostic tool used to evaluate the kidneys and urinary system is a renal and bladder ultrasound. This involves using sends sound waves to visualize the kidneys and bladder. It does not use X-rays or radiation and iden­ tifies many structural abnormalities of the kidney (agenesis, hypoplasia, dupli­ cation, etc.). In addition, an ultrasound can sometimes identify enlargement of the collecting system (known as hydronephrosis) and the ureter. Sometimes, a dilated ureter can be seen when a patient has reflux. To diagnose reflux, a voiding cystourethrogram ( VCUG) is performed. This test involves using X-rays to visualize the bladder and to look for urine traveling in the wrong direction. It is performed by placing a catheter into

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the bladder through the urethra and then filling the bladder with contrast (a fluid that can be seen using an X-ray). As the child urinates, X-rays are taken. If there is reflux, it can usually be seen and the severity measured with the VCUG. In addition, a VCUG will assess how well the bladder empties. To assess the function of the bladder, formal urodynamics can be performed. This involves placing catheters that measure pressure into the bladder and rectum. This provides information regarding how well the bladder stores and empties urine. A urodynamics test will also give information regarding how well the bladder empties. This can be performed with X-rays as well and can be used instead of a VCUG to identify reflux. In order to assess the function and drainage of the kidney and ureter, a radionucleotide scan is performed. This test involves injecting a radioactive tracer into a vein, where it is taken up by the kidney. If a kidney is not in a normal location and was not seen during the ultrasound, this scan can sometimes identify the location of the kidney. This test does involve a small amount of radiation, but it is quickly removed in the urine. If the tracer does not drain appropriately into the bladder, this may be the result of a blockage that might need surgical correction. Both computed tomography (CT ) and magnetic resonance imaging (MRI) offer higher-resolution cross-sectional imaging of the body but are rarely indicated in the management of the genital/urinary system in a child with CS. A CT scan uses X-rays to create the pictures, whereas the MRI does not. These imaging types are usually reserved for patients with complex anatomy that cannot be completely discerned with an ultrasound and a radionucleotide scan. A CT scan is a much faster test, whereas an MRI often requires sedation, as it requires the child to be still for longer. MRI does allow for higherresolution images, as well as evaluation of the blood vessels going into the kidney, kidney anatomy, and ureteral drainage. However, the benefits of an MRI need to be tempered with the risks associated with anesthesia, which can be of particular importance in CHARGE (see Chapter 9).

MANAGEMENT The management of genitourinary abnormalities in CHARGE is varied and has to be tailored to each individual patient, given the diversity of involvement. Children with CS are at an increased risk of UTI (Ragan et al., 1999; Strömland et al., 2005). Therefore, if a child is being evaluated for a fever or increased irritability, a UTI needs to be considered. In order to diagnose and treat a UTI, a urine culture should be sent from all patients suspected of having an infection. Children who are not able to reliably provide a urine specimen will require a bladder catheterization to obtain a urine specimen. It is important that urine cultures are sent for suspected UTIs rather than

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initial use of antibiotics prior to any testing. Given the increased risk of UTI, it is important that antibiotics not be overused, as this can lead to multidrugresistant bacteria if an infection were to occur. If a child has reflux (backward flow of urine from the bladder to the kidney), it is common to treat with a low daily dose of an antibiotic to decrease the chances of developing a UTI (antibiotic prophylaxis). If a child continues to have breakthrough infections while on suppressive antibiotics, surgical correction of reflux may be considered. However, if there is no reflux identified on VCUG, there is no need to begin antibiotics. If there are recurrent UTIs, management focusing on bladder health is the initial strategy. This can be tailored to each patient but may involve behavioral therapy, treatment of constipation, and even intermittent catheterization, if indicated. Suppressive antibiotics in a child without reflux is rarely indicated and should be utilized only if the therapies targeted at bladder health are not successful. Many of the other kidney abnormalities do not require any treatment other than regular follow-up and monitoring to ensure good overall health. Blockages that do not allow for urine to drain into the bladder properly may need to be surgically corrected.

COMPLICATIONS Abnormalities with the genitalia can result in difficulty urinating for boys, as well as issues with toilet training. The malformed genitalia in either sex can be a cause of body image dysphoria, resulting in depression and behavioral issues. In older males, the underdevelopment of the genitalia may be a source for sexual dysfunction and significant psychosocial and body image stress. Undescended testes have an increased risk of tumor formation, even after they are brought down into the normal location of the scrotum. The tumors typically happen in the second decade of life. Surveillance is indicated.

CONCLUSIONS n Renal ultrasound should be performed in all individuals who have

a presumed or actual diagnosis of CS. n Genitourinary involvement is not uncommon in children with CS. n Vesicoureteral reflux can increase the risk of UTIs. n Renal failure is not common in patients with CS.

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REFERENCES Blake, K. D., & Prasad, C. (2006). CHARGE syndrome. Orphanet Journal of Rare Diseases, 1(1), 34. Blake, K. D., Russell-Eggitt, M., Morgan, D. W., Ratcliffe, J. M., & Wyse, R. K. (1990). Who’s in CHARGE? Multidisciplinary management of patients with CHARGE association. Archives of Diseases in Childhood, 65(2), 217–223. Legendre, M., Abadie, V., Attié-Bitach, T., Phillip, N., Busa, T,. . . . Gilbert-Dussardier, B. (2017). Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175C, 417–430. Ragan, D. C., Casale, A. J., Rink, R. C., Cain, M. P., & Weaver, D. D. (1999). Genitourinary anomalies in the CHARGE association. Journal of Urology, 161(2), 622–625. Strömland, K., Sjögreen, L., Johansson, M., Ekman Joelsson, B. M., Miller, M., Danielsson, S., . . . Granström, G. (2005). CHARGE association in Sweden: Malformations and functional deficits. American Journal of Medical Genetics Part A, 133(3), 331–339. Tellier, A. L., Cormier-Daire, V., Abadie, V. Amiel, J., Sigaudy, S., Bonnet, D., . . . Lyonnet, S. (1998). CHARGE syndrome: Report of 47 cases and a review. American Journal of Medical Genetics, 76(5), 402–409.

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CHAPTER 14

Endocrine System JEREMY M. W. KIRK and MEILAN M. RUTTER

INTRODUCTION The endocrine system is made up of specialist glands producing hormones (chemicals) that are important for normal growth and puberty, strong bones, and general health and well-being (Figure 14–1). Slow (or restricted) growth, poor pubertal development and genital differences are integral features of CHARGE syndrome (CS). Children and adolescents with CS frequently have problems with growth, puberty, or both. While hormone deficiencies are common in individuals with CS, growth and puberty may also be influenced— and overshadowed—by other complex health issues. Proactive interdisciplinary care that includes careful evaluation, monitoring, and management of endocrine needs is therefore very important.

NORMAL GROWTH The growth of a child occurs in three separate phases. Though these phases merge into each other, they are under different hormonal and nutritional controls (Figure 14–2). All three phases are affected in children with CS. 195

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Figure 14–1.  The endocrine system. Courtesy of Current Procedural Terminology (CPT), used by permission of the American Medical Association.

Infantile phase: This occurs during the first two to three years of life and is a continuation of fetal growth (i.e., growth in the womb). This phase is almost completely nutritionally dependent. Childhood phase: This occurs from around 2 years of age until puberty. This phase is dependent on nutrition and also hormones, such as growth hormone (GH) and thyroid hormone. Pubertal phase: From puberty onward, which starts at an average of 10 years in girls and 10½ years in boys, this phase is under the control of GH and sex hormones acting together. This phase has different peaks in the two

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Figure 14–2.  The Infancy-Childhood-Puberty (ICP) Model of Growth. Courtesy of Karlberg, J. (1987). On the modeling of human growth. Statistics in Medicine, 6(2), 185–192. Used by permission of Wiley-Blackwell.

sexes, accounting for the differences in adult height of approximately 5 inches (13 cm) between males and females.

GROWTH IN CHILDREN WITH CHARGE SYNDROME Factors that impact any of these three phases will lead to poor growth and short stature, both of which are seen in children with CS (Table 14–1), with 60% to 72% having heights at or below the lower end of the normal range (Dijk, Bocca, & van Ravenswaaij-Arts, 2019; Blake, Kirk, & Ur, 1993). Nutritional and medical causes are common, and while GH deficiency may occur, it is in a minority. As with other genetic syndromes, CS itself may also be associated with reduction in height, as many individuals with CS are more likely to have reduced length/height. Even without feeding and hormonal problems, children with CS are small in comparison to their siblings and parents. Although no up-to-date disease-specific growth charts for CHARGE currently exist, we previously described growth in a group of children with CS (Blake, Kirk, & Ur, 1993) (Figures 14–3 and 14–4).

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Table 14–1. Endocrine and Nonendocrine Causes of Poor Growth in Children With CHARGE Syndrome Cause of Poor Growth

Conditions

Endocrine

Growth hormone deficiency Hypogonadotropic hypogonadism (delayed puberty)

Nonendocrine

Feeding/nutritional/aspiration issues: —Anatomical n Cleft lip/palate n Tracheoesophageal fistula n Laryngeal cleft —Cranial nerve dysfunction n Motor and sensory issues Chronic/critical illness: —Congenital heart disease —Hospitalizations/surgeries

Infancy Intrauterine growth retardation (IUGR) may occur, as approximately one quarter to one third of infants with CS are born small for their gestational age or have a low birth weight (e.g., less than 6 lbs, 10 oz or 3 kg at term). Overall, however, average birth weight and length are at the lower end of the normal range in infants with CS (Dijk, Bocca, & van Ravenswaaij-Arts, 2019). Nutritional problems are common, with more than 90% of children with CS having difficulty swallowing foods of different textures and requiring tube feeding (see Chapter 10). This can be attributed to both mechanical (anatomical) and neurological factors (Table 14–1). Mechanical factors can include choanal atresia or stenosis (blockage or narrowing of posterior nasal passages), small or posteriorly placed jaw, cleft lip and/or palate, tracheoesophageal fistula (an abnormal connection between the trachea [windpipe] and esophagus [gullet]), or gastroesophageal reflux. Neurologic factors can include lower cranial nerve involvement, contributing to swallowing difficulties and a tendency to aspirate (see Chapter 11). Almost all published studies describe characteristically poor growth (both height and weight) in the first year of life for children with CS (known as “failure to thrive”) (Dijk, Bocca, & van Ravenswaaij-Arts, 2019). It has been shown that these children are more likely to fail to thrive if they have feeding difficulties, larynx/pharynx problems, facial weakness, and also have had major operations and prolonged hospitalization.

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Figure 14–3. Growth in boys with CHARGE. Courtesy of Blake, K., Kirk, J. M., and Ur, E. (1993). Growth in CHARGE association. Archives of Disease in Childhood, 68, 508– 509. Used by permission of BMJ Publishing Group Ltd.

Childhood Children with CS often grow at a normal rate during childhood, and some may even grow faster than usual during preschool years (“catch-up” growth). Despite this, many children with CS remain short during childhood. Puberty Puberty is often delayed, arrested, or absent in those with CS. This is primarily due to a lack of production of hormones from the hypothalamus and

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Figure 14–4. Growth in girls with CHARGE. Courtesy of Blake, K., Kirk, J. M., and Ur, E. (1993). Growth in CHARGE association. Archives of Disease in Childhood, 68, 508–509. Used by permission of BMJ Publishing Group Ltd.

pituitary gland (the parts of the brain that control other endocrine glands) (see Figure 14–1), resulting in decreased sex hormones made by the testicles and ovaries. This is known as hypogonadotropic hypogonadism (HH). Sometimes, in males, decreased production of sex hormones may also originate from the testicles themselves. Delayed or absent puberty will result in slowerthan-expected growth due to lack of a pubertal growth spurt. Data indicate that very few males enter puberty spontaneously, whereas more girls will do so, including some who pass completely through puberty and menstruate spontaneously. Little data exist on fertility in either sex; anecdotally there are reports of both women and men with CHARGE who have had children.

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Although short stature is well recognized in CHARGE, few data exist on adult height. While limited to self- or parent-report of individuals 19 years or older, Blake, Salem-Hartshorne, Daoud, and Gradstein (2005) found the average height of five males with CS to be 5′6″ (167.5 cm), with a range of 5′1″ to 6′ (155–182 cm), and the height of six females with CS averaged 5′3″ (161 cm), with a range of 4′11″ to 5′7″ (150–170 cm). In the experience of one of the authors ( JK), around half have heights within the normal range, although some may have received growth hormone (GH) therapy.

EVALUATION OF GROWTH PROBLEMS IN CHILDREN WITH CHARGE SYNDROME Children with CS should be followed by a specialist in endocrine disorders: a pediatric endocrinologist. At each assessment, the following measurements should be taken and plotted: n Height n Weight n Weight for height (body mass index [BMI]) n Head circumference in younger children n Pubertal assessment in older patients

Height should be measured lying down until 2 years of age, and then standing, when possible. The head needs to be positioned so that a line from the lower edge of the eye to the ear canals is parallel to the measuring surface (“the Frankfurt plane”). Shoes should be removed, although thin socks can be worn. Weight should ideally be measured with electronic scales, with minimal clothing, and without diapers. Head circumference is measured with a nonstretchable tape above the ears and eyes at the widest point on the head. Weight-for-height should also be calculated and can be useful to distinguish between nutritional problems, where weight is characteristically low for height, and hormonal problems, where weight tends to be proportionately greater than height. BMI is a common way to assess weight-for-height. This is calculated as weight (in kilograms) divided by the square of the height (in meters) (weight/height2). Serial accurate measures of height (ideally over at least 12 months) enable a height velocity to be calculated. Additional information on height potential can also be obtained by using the following methods: n Midparental height, based on parental heights (ideally measured

rather than simply by report), can be used to calculate expected

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Table 14–2.  Endocrine Issues in Children With CHARGE Syndrome Endocrine Condition

Clinical Findings

Growth deficiency; GH deficiency

Hypogonadotropic hypogonadism

Investigations

Treatment

Slow growth rate, short stature

Bone age X-ray Tests to rule out other causes of poor growth GH screening markers (IGF-I, IGFBP-3) GH stimulation test (if indicated)

Optimize nutrition and health GH therapy, if GH deficiency present

Infancy (boys) -Micropenis -Undescended testes/ cryptorchidism

LH, FSH, testosterone (at birth or 2 to 3 months of age) LHRH hCG (boys)

Hormone therapy: -Testosterone for micropenis -hCG Surgery: -Orchidopexy for undescended testes

Puberty -Delayed/ absent/ arrested -Micropenis or undescended testes may be present

Bone age X-ray Tests to rule out other causes of late puberty LH, FSH, LHRH testosterone (boys) or estradiol (girls) Pelvic ultrasound (girls), hCG (boys)

Hormone therapy: -Testosterone (boys) -Estrogen (girls) -Progesterone added later (girls) -Gonadotropin therapy

Hypothyroidism

Slow growth, weight gain

Thyroid function tests

Thyroid hormone

Adrenal insufficiency (uncommon)

Hypotension or shock if severe

Early morning cortisol ACTH stimulation test (routine testing not recommended)

Hydrocortisone

Osteoporosis

Fractures

Check for HH 25-Hydroxyvitamin D DEXA scan

Treat HH, if present Weight-bearing activity Optimize calcium and vitamin D intake

Abbreviations: ACTH, adrenocorticotrophic hormone; DEXA, dual-energy X-ray absorptio­m­ etry; FSH, follicle-stimulating hormone; GH, growth hormone; hCG, human chorionic gonad­ otropin; HH, hypogonadotropic hypogonadism; IGF-I, insulin-like growth factor-I; IGFBP-3, insulin-like growth factor binding protein-3; LH, luteinizing hormone; LHRH, lutenizing hormonereleasing hormone.

202

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height centile in childhood and to predict adult height in their children. Children with CS are often well below their expected genetic target range. n Biological age, rather than chronological age, is assessed using the

“bone age,” which is estimated by looking at the growing ends (epiphyses) of the bones. This is characteristically performed on a left wrist X-ray and assesses how much time (and, therefore, growth) remains before the bones fuse and no further growth will occur. Puberty is assessed using a standardized staging system (Tanner), looking at breast development in girls, genital development in boys, and pubic and axillary (armpit) hair in both sexes. Testicular volume in boys can be measured using graduated beads (an orchidometer). In addition, there should be assessment of the back from mid-childhood, as scoliosis (curvature of the spine), which occurs in up to half of patients with CS, may impact growth, especially during puberty when two-thirds of height gain occurs through spinal growth. Investigations include screening for nonhormonal causes, in addition to testing for deficiencies of specific hormones that are involved in growth, such as GH, and pubertal or thyroid hormones, if indicated (Table 14–2). Hor­ mone investigations may be influenced by nutritional status, time of day, and whether that hormone is secreted in a pulsatile manner. As a result, patients require specialist advice for selecting, performing, and interpreting endocrine tests, along with any decisions regarding treatment.

MANAGEMENT OF GROWTH PROBLEMS IN CHILDREN WITH CHARGE SYNDROME Management of growth problems in infancy requires an interdisciplin­ary feed­ ing team, including a speech therapist, dietician, occupational therapist, physical therapist, and behavioral psychologist (see Chapter 10). Coordinated input from specialists such as a pediatric ear, nose, and throat surgeon, pulmonologist, gastroenterologist, and pediatric surgeon may be necessary. Optimizing nutritional intake often involves nasogastric, gastrostomy (stomach), or jejunostomy (small bowel) tube feeding. Growth hormone (GH) deficiency has been reported to occur in some children with CS, albeit a minority (Dijk et al., 2019). The published incidence ranges from about 9% to 34%, although this almost certainly is an overestimate reflecting selection bias of reported patients and differences in evaluation criteria. Some children with CS have received treatment with GH

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therapy for short stature and slow growth, even though they may not have had true GH deficiency. Although there are no formal trials of GH therapy in CS, a number of international growth databases contain children with CHARGE who have been treated with GH, including those who were GH deficient and those who were not. Most patients have been treated for only short periods of time, and responses to treatment have been variable, which makes it difficult to draw overall conclusions. One study, using the international KIGS database, looked at 51 children (28 male); 33 had GH testing and 15 had GH deficiency (Dörr et al., 2015). Mean (± standard deviation [SD]) height velocity increased from 3.88 (±0.91) cm/year at the start of GH treatment to 8.92 (±2.80) cm/year after 1 year and 7.28 (±2.1) cm/year after 2 years, although long-term data were lacking. These factors, along with the high cost of GH (~15 to 20,000 USD/year), the lack of a product license in CS, and the fact that GH needs to be given by daily injection limit its current use. However, GH is indicated for those who have a confirmed clinical and biochemical diagnosis of GH deficiency.

PUBERTY IN ADOLESCENTS WITH CHARGE SYNDROME Puberty is frequently delayed or absent in adolescents with CS. Delayed puberty is taken as the absence of signs of puberty by 13 years in girls (initially breast development) and 14 years in boys (initially testicular enlargement). In addition, some adolescents with CS may have initial signs of puberty but do not progress at an appropriate rate (arrested or incomplete puberty). Individuals with CS commonly experience a lack of production of sex hormones from the gonads (sex glands—testicles in males and ovaries in females; see Figure 14–1). The reasons for this are as follows: n Reduced hormones from the hypothalamus and pituitary gland

(see Figure 14–1). This is called hypogonadotropic hypogonadism (HH). The two pituitary hormones are called gonadotropins: luteinizing hormone (LH) and follicle-stimulating hormone (FSH). Reduced gonadotropins in turn result in reduced sex hormones from the gonads (testosterone in males and estrogen in females). n Reduced hormone (testosterone) production from the testicles in

boys due to the testicles remaining undescended. The nerve cells (neurons) involved in controlling the production of gonadotropin hormones develop within the nose in early fetal life and migrate into the brain, alongside the nerves that control the sense of smell (olfactory nerves). Therefore, patients with CS who have HH often have an absent or abnormal sense of smell (anosmia), and MRI scanning of the brain may show

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underdeveloped olfactory lobes. Lack of sense of smell in young children may be a predictor of the need for hormones to attain puberty. There is also crossover with another condition that causes HH, Kallmann syndrome, and some patients with the latter have now been shown to have mutations in the CHD7 gene (see Chapter 4). In addition to evaluating baseline and stimulated sex hormone levels with bone age estimation (Table 14–2), a pelvic ultrasound can be used in girls to assess the size of the ovaries and uterus (womb) and the response to sex hormone production or treatment.

TREATMENT OF DELAYED OR ABSENT PUBERTY Treatment of delayed or absent puberty involves replacing the deficient sex hormones in a way that mimics natural puberty. An important goal of sex hormone replacement is to optimize bone health, as a significant amount of bone is laid down in the teenage years and early twenties under the influence of sex hormones. Additional goals include stimulating growth (pubertal growth spurt), an improved metabolic profile, increased muscle strength (in boys), and psychosocial adjustment. In adolescents with CS, there are often potential concerns about the administration of sex hormones, as they might produce worsening behavior, inappropriate sexual behavior, menstrual bleeding (in girls), or persistent erections (in boys). These concerns must be balanced against the benefits, which include the prevention of osteoporosis (brittle bones), a condition that predisposes individuals to fractures and poor bone health (Forward, Cummings, & Blake, 2007). In girls, a gradually increasing dose of the female hormone estrogen given by a patch (or by mouth) is used to initiate puberty. A second hormone, progesterone, is added later to prevent the excessive thickening of the lining of the uterus, allowing periods to occur. There are several different combined hormone regimens available, including a patch or an oral contraceptive pill. There are options to help with easing the burden of menstrual periods, if they are difficult to manage or distressing. These include extending the intervals between bleeding cycles when using hormone replacement, or placement of a small intrauterine device that prevents buildup of the lining of the uterus and subsequent bleeding. In boys, a gradually increasing dose of the male hormone testosterone is given. Two therapy options are generally available, although there is currently no evidence as to which one is best. Most commonly used is testosterone itself, given by monthly injection, or alternatively, a daily gel applied to the skin. When puberty is complete, testosterone can also be given via an implant every 3 months or a patch. Alternatively, replacement of the missing pituitary hormone (as gonadotropins by frequent injections) may stimulate the testicles to produce testosterone themselves.

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It is likely that hormone replacement in both sexes will need to be given long term.

GENITAL DEVELOPMENT IN CHILDREN WITH CHARGE SYNDROME Genital hypoplasia or underdevelopment (a minor diagnostic criterion) is common in children (particularly boys) with CS but is often not noted or addressed due to other more serious medical concerns after birth. As with puberty, this is due to HH, resulting in a lack of sex hormones that are important for (male) genital development before birth. In about 90% of boys with CS, undescended testicles (one or both) and/ or a small penis are present at birth (Legendre et al., 2017). A small penis is called a micropenis if its stretched length measures less than 1 inch (2.5 cm) at birth. If one or both of the testicles are undescended, this is called cryptorchidism. Both findings are due to the fact that descent of the testicles into the scrotum and growth of the penis in the last part of the pregnancy are dependent on the production of the sex hormone testosterone from the testicles (under the influence of pituitary gonadotropins). Later, puberty does not occur or progress in boys with HH, as the hormones involved in puberty are the same as those needed for male genital development before birth. In girls, there may be no obvious genital abnormalities noted at birth. Instead, HH usually becomes evident later, if puberty does not occur.

Investigation and Management of Micropenis and Undescended Testicles in Boys The surge in sex hormones immediately after birth, which lasts for up to 6 months, offers a “mini-puberty,” a window of opportunity to measure these hormones. If testing is inconclusive or outside of this optimal time window, stimulation tests of pituitary (LHRH test) or testicular function (such as an “hCG stimulation test”) may be useful and, in the latter, may also have a therapeutic effect in producing testicular descent.

Micropenis A small penis may be treated with male sex hormones (usually testosterone), which should ideally be given soon after birth to mimic the normal neonatal surge. Testosterone can be administered topically, as a daily gel or cream, or by monthly intramuscular injections for 3 to 4 months.

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Although there have been theoretical worries that early treatment will affect the subsequent growth of the penis during puberty, this does not appear to happen. Testosterone can also cause fluid retention and should, therefore, be used with caution in children with heart failure. Undescended Testicles As testicles need to be situated at a lower temperature within the scrotum to function normally, if they are undescended, they need to be brought down. This can be done as follows: n Surgically, requiring one or more operations, known as orchido-

pexy. Although ideally this should be done within the first months or early in life, other more pressing medical issues of CHARGE often mean that this surgery is performed when boys are older, sometimes in conjunction with other procedures. n Medically, using a course of injections (usually twice-weekly over

3 to 6 weeks), which mimic the hormone stimulus from the pituitary. These injections probably work best in testicles that are at least partially descended.

OTHER HORMONAL PROBLEMS Thyroid The thyroid is important for functions such as normal growth, energy, and metabolism. Hypothyroidism (an underactive thyroid) has been reported in 12% to 18% of individuals with CS, whereas the experience of a national French cohort of 119 patients reported a lower incidence of 8% (Legendre et al., 2017). Hypothyroidism may occur either due to central deficiency of hormones from the pituitary gland that control the thyroid gland, or deficiency of hormones originating from the thyroid gland itself. Thyroid levels can be easily measured in those who have suggestive symptoms or signs, including slow growth. Treatment involves replacement with thyroid hormone. Adrenal The adrenal gland produces hormones that help with fighting infection and physical stress. There have been rare case reports of adrenal insufficiency in patients with CS. Although data are limited, there is no evidence that adrenal

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insufficiency (especially central) is common in CS ( Wong, van RavenswaaijArts, Munns, Hsu, Mehr, & Bocca, 2016). Screening for adrenal insufficiency is not routinely recommended.

CONCLUSION Endocrine issues are very common in individuals with CS and affect many important aspects of health and well-being. The most frequent endocrine issue is HH, which affects the development of the genitals in boys and causes delayed puberty in both sexes. Although growth problems are very common in children with CS, those due to growth hormone (GH) deficiency occur in a minority. Although deficiency of thyroid hormones is found in some individuals, deficiency involving the adrenals is said to be uncommon. Given the multiple complex medical issues in individuals with CS, endocrine care should be proactive and integrated into overall interdisciplinary management to optimize physical and psychosocial outcomes.

REFERENCES Blake, K. D., Kirk, J. M., & Ur, E. (1993). Growth in CHARGE association. Archives of Disease in Childhood, 68(4), 508–509. Blake, K. D., Salem-Hartshorne, N., Daoud, M. A., & Gradstein, J. (2005). Adolescent and adult issues in CHARGE syndrome. Clinical Pediatrics, 44(2), 151–159. Dijk, D. R, Bocca, G., & van Ravenswaaij-Arts, C. M. (2019). Growth in CHARGE syndrome: optimizing care with a multidisciplinary approach. Journal of Multidisciplinary Healthcare, 12, 607–620. Dörr, H. G., Boguszewski, M., Dahlgren, J., Dunger, D., Geffner, M. E., HokkenKoelega, A. C., . . . Kigs International Board. (2015). Short children with CHARGE syndrome: Do they benefit from growth hormone therapy? Hormone Research in Paediatrics, 84(1), 49–53. Forward, K. E., Cummings, E. A., & Blake, K. D. (2007). Risk factors for poor bone health in adolescents and adults with CHARGE syndrome. American Journal of Medical Genetics Part A, 143(8), 839–845. Legendre, M., Abadie, V., Attié-Bitach, T., Philip, N., Busa, T., Bonneau, D., . . . GilbertDussardier, B. (2017). Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE Syndrome. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(4), 417–430. Wong, M. T., van Ravenswaaij-Arts, C. M., Munns, C. F., Hsu, P., Mehr, S., & Bocca, G. (2016). Central adrenal insufficiency is not a common feature in CHARGE syndrome: A cross-sectional study in 2 cohorts. Journal of Pediatrics, 176, 150–155.

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CHAPTER 15

Immune System PETER HSU, SAM MEHR, and DIANNE E. CAMPBELL

INTRODUCTION Immunodeficiency has been described in CHARGE syndrome (CS); however, its prevalence and severity remain poorly defined. Most reports are of single case descriptions or retrospective series, invariably resulting in a publication bias of more severe phenotypes. The severity of immunodeficiency in CS is variable; many patients are asymptomatic, but some individuals develop life-threatening, severe combined immunodeficiency (SCID), also termed complete DiGeorge anomaly (as used in immunology, distinct from 22q11.2 deletion syndrome—see later). A more complete and detailed version of this review can be found in Mehr, Hsu, and Campbell (2017).

THE IMMUNE SYSTEM The immune system has two broad arms, innate and adaptive. All of the cellular elements of the immune system (innate and adaptive) originate in the bone marrow. The innate system includes cellular components (neutrophils, macrophages, natural killer [NK] cells) and proteins (such as complement) 209

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and acts as the first line of defense. The adaptive arm of the immune system is principally composed of “humoral” and “cellular” arms, which can recognize and respond to specific foreign antigens and self-antigens. The CD3 T lymphocytes (composed of both CD4 and CD8 T cells) and NK cells form the major components of the cellular defense system. The B lymphocytes generate humoral defense by the production of antigen-specific immunoglobulins. Although all of these cell lines originate in the bone marrow, T lymphocytes must be “educated” and mature in the thymus, thus the name “T cells.” Although there is considerable overlap and cross talk, in general, T cells protect against infection by viral, fungal, and intracellular pathogens, whereas the immunoglobulin produced by B cells protects against bacterial infections. The thymus is a lymphoid organ (part of the lymphatic system) located in front of the heart, behind the sternum (breastbone). The role of T cells is to recognize, initiate, coordinate, and finally, to dampen the adaptive immune response to pathogens and to self-antigens. The T cells assist B cells in producing immunoglobulin (“antibody”) essential for pathogen removal. The thymus is essential for T-cell maturation, self- and non-self-programming, and T-cell regulation. In essence, the thymus is where T cells are educated after they are produced in the bone marrow. Where deficiencies in the production or education of T cells occurs, there is a risk of infections due to viral, fungal, and opportunistic infections, as well as sometimes a breakdown in the tolerance to self-antigens.

INFECTIOUS SUSCEPTIBILITY IN CHILDREN WITH CHARGE SYNDROME The vast majority of children with CHARGE do not appear to have an immune defect on testing, yet often have recurrent chest, sinus, and ear infections, particularly up to about 6 years of age. This is likely primarily due to underlying anatomical and functional abnormalities, including choanal atresia, cleft palate, altered eustachian tube anatomy, and increased risks of aspiration. In the combined published pediatric cohorts of Hsu et al. (2016) and Wong, Lambeck, et al. (2015), none of the 44 children had a significant immune defect, yet two-thirds of cases had a prior history of otitis media (often requiring multiple sets of tympanostomy tubes [ear tubes or grommets]) and one-quarter had pneumonia. Although other invasive infections were not documented, both cohorts typically included older children presenting to specialized outpatient clinics. Recurrent sinus, lung, and/or life-threatening infections, however, have been reported in cases of CS with concurrent immunodeficiency (reviewed in Wong, Schölvinck, Lambeck, & van RavenswaaijArts, 2015).

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IMMUNE ABNORMALITIES IN CHARGE SYNDROME When present, immune defects in CHARGE occur largely due to impairment in thymic development, and thus functional T-cell production. The severity of the immunodeficiency relates to the degree of thymic maldevelopment. Complete absence of the thymus (thymic aplasia), although rare, results in a severe combined immunodeficience (SCID) with complete/near complete absence of T cells and abnormal B-cell function with associated hypogammaglobulinemia (low immunoglobulin production). Without effective immune reconstitution, these children will die from infections. Partial thymic aplasia may result in no detectable defect at all, mild reduction in T cells with no clinical consequence, or more significant reduction in T cells with associated B-cell function impairment, resulting in recurrent infections that often require prophylactic antibiotics and/or immunoglobulin infusions. Sometimes, the only immune problem found in CS is production of antibodies against polysaccharide antigens with poor function (so-called “specific antibody defect”), which can lead to recurrent ear and chest infections. This can usually be treated with the use of prophylactic antibiotics. Up to 80% of children with CHARGE have documented reduced CD3 cell counts (  Wong, Lambeck et al., 2015), which may be associated with impaired T-cell function. Since T cells are required for optimal B-cell function, not surprisingly, a proportion of children with CS have low immunoglobulin levels or function. Specifically, some children with CS are reported to have a suboptimal antibody response to at least one vaccination (pneumovax, tetanus, diphtheria, and/or Haemophilus influenzae type b), which is indicative of reduced B-cell function. As summarized in Hsu et al. (2016), a proportion of children with CHARGE and thymic hypoplasia present with reductions in total CD3 T-cell number and associated antibody dysfunction that are substantial enough to warrant prophylactic antibiotic therapy or immunoglobulin replacement therapy. Reports on specific reductions within the CD3 T-cell compartment in CS have been inconsistent. Further data are required across a broad range of ages in larger cohorts to clarify whether CD8-penia is a common feature of CS.

THYMIC DYSFUNCTION IN CHARGE SYNDROME Partial Thymic Hypoplasia Thymic hypoplasia (small or underdeveloped thymus) can result in reduced T-cell (CD3) counts. Reduced naïve CD4/CD8 cell counts are useful as markers of poor thymus function/development. The reduced CD3 T cells can manifest

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as a reduction in total lymphocyte count (lymphopenia). It appears that lymphopenia in CHARGE may be more common in early infancy, possibly normalizing over time. Persistent and severe lymphopenia is always of concern in any infant with CS due to the possibility of complete DiGeorge anomaly. Complete Thymic Aplasia (DiGeorge Anomaly) The term DiGeorge has in the past been used to refer to what is more accurately called “22q11.2 deletion syndrome,” which is a distinct genetic syn­ drome with features that overlap significantly with CHARGE (Hefner & Fassi, 2017). More accurately, and in the immune context, complete DiGeorge is used to describe the combination of congenital heart defects and parathyroid abnormalities (hypocalcemia) with absent thymus (Markert et al., 2007). Complete DiGeorge anomaly has been described as part of 22q11.2 deletion syndrome, CS, or diabetic embryopathy (Markert et al., 2007). It is a relatively rare finding in any of these conditions, occurring in perhaps 1% to 2% of infants with 22q11.2 deletion or CS (Markert et al., 2007). The thymus and parathyroid develop embryologically from the same pharyngeal pouches; therefore, hypocalcemia (low blood calcium level) is almost always reported in complete DiGeorge anomaly, suggesting a close correlation between lymphopenia (and thus thymic aplasia) and hypocalcemia (and thus hypoparathyroidism). Not surprisingly, combined hypocalcemia and lymphopenia has been reported in patients with CHARGE (  Jyonouchi, McDonald-McGinn, Bale, Zackai, & Sullivan, 2009). Absent Thymus in CHARGE Syndrome Profound T-cell deficiency due to absence of the thymus (complete thymic aplasia) is the most serious immunodeficiency reported in CHARGE, presenting as SCID. Such infants present usually within the first six months of life with failure to thrive and recurrent/opportunistic infections (such as candida or pneumocystis infections). Rarely, some may present with atypical features of skin (severe eczema, hair loss) and/or gut inflammation (diarrhea) and generalized immune activation (hepatosplenomegaly, peripheral eosinophilia, high IgE levels), otherwise known as atypical complete DiGeorge syndrome (or Omenn-like phenotype). In such cases, the T-cell/lymphocyte count are significantly reduced at birth but then normalize in number over the first few months of life, or even become elevated due to the oligoclonal expansion of defective, autoreactive T cells. Persistent hypocalcemia in infants with CS may be a marker for thymic hypoplasia/aplasia. When it is present, complete blood workup to exclude complete DiGeorge (full blood count and T-B, NK subsets, and immunoglobulins) should be performed (Gennery et al., 2008).

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MANAGEMENT OF ATHYMIA IN CHARGE SYNDROME: THYMIC TRANSPLANTATION The basic management of an individual with complete DiGeorge anomaly follows the basic management tenants of any child with SCID, including the following: n No live viral vaccines n Cytomegalovirus (CMV) negative and irradiated blood products (if

required) n Avoid breastfeeding if mother is CMV reactive n Antifungal and pneumocystis pneumonia prophylaxis n Commencement of immunoglobulin replacement n Urgent need to reconstitute the immune system

Without treatment, any form of SCID is uniformly fatal. However, unlike forms of SCID where the primary defect is within the cell lineage pathways in the bone marrow (with bone marrow transplantation the cornerstone of therapy), in complete or atypical complete DiGeorge, stem cells/T-cell precursors are produced in the marrow in normal numbers but cannot undergo thymic education and maturation due to the lack of an educational stromal environment. Thymic transplantation is regarded as the most suitable therapy in complete atypical/complete DiGeorge anomaly. The donor thymus does not need to be HLA matched with the recipient, but infants with the atypical phenotype (Omenn-like) do need pregraft conditioning due to the presence of reactive oligoclonal T cells. Overall, graft versus host disease was reported to be rare in those undergoing thymic transplantation, with an overall survival rate of 75% (Markert et al., 2007). Naïve T cells are generally detected within 6 months of thymic transplant, and by 2 years, most children can cease immunoglobulin infusions (Markert et al., 2007). However, such specialized therapy is currently only available in two centers in the world (Great Ormond St. Hospital, London, United Kingdom; and Duke University Hospital, Durham, NC). Consequently, other centers have had to rely on bone marrow reconstitution (either stem cell transplant or cord blood transplants) or infusion of peripherally harvested lymphocytes with the view that mature post-thymic T cells would be sufficiently present to expand and rescue the immunologic defect. The outcome of such transplants is less clear, with higher rates of complications such as graft versus host disease and increased mortality.

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RECOMMENDATIONS FOR SCREENING AND MONITORING IN INFANTS DIAGNOSED WITH CHARGE SYNDROME Given the small but real risk of complete DiGeorge anomaly in CHARGE, the current recommendation is to perform a full blood count (with a lymphocyte differential, and naïve T-cell enumeration) and calcium level in the neonatal period in all patients with CS. Complete DiGeorge must be considered in any infant with persistent lymphopenia (particularly in the presence of hypocalcemia) and in infants with signs of an Omenn-like phenotype or those with normal lymphocyte count but presenting with unusual or invasive infections (e.g., CMV, Pneumocystis jiroveci pneumonia). For older children with CHARGE who present with recurrent sinopulmonary infections, further immune testing (full blood count, lymphocyte subsets, naïve T cells, B-cell memory phenotype, immunoglobulin levels, and protein/polysaccharide vaccine responses) should be considered to detect a more subtle cellular or humoral immune deficiency. Consultation with an immunologist is recommended for interpretation of any abnormal results and management of any significant identifiable immune defect.

FUTURE DIRECTIONS AND RECOMMENDATIONS There remains a paucity of information with respect to the immune function of patients with CS. Further areas of potential interest include the following: n Systematic assessment and characterization of the immunologic

phenotype in younger and adult cohorts with CS and comparison to age-matched healthy controls and patients with 22q11.2 deletion syndrome. n Standardization of assessment for humoral defects (i.e., boosting

if routine vaccination titers are reduced, assessing for specific antibody deficiency by vaccination with 23 valent pneumococcal vaccine, and performing memory B-cell phenotyping). n Determining if additional genetic mutations are responsible for

thymic aplasia in those with complete DiGeorge anomaly, given there is no clear CHD7 genotype-phenotype correlation. n Addressing the need for other tertiary centers to be able to provide

thymic transplantation outside of the United States and United King­ dom, particularly in regions where neonatal SCID screening is being implemented. Otherwise, a situation will arise where an early diagnosis of complete/atypical complete DiGeorge anomaly will be made, but thymic transplantation cannot be offered.

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REFERENCES Gennery, A. R., Slatter, M. A., Rice, J., Hoefsloot, L. H., Barge, D., McLean-Tooke, A., . . . Johnson, D. (2008). Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndromes. Clinical and Experimental Immunology, 153(1), 75–80. Hefner, M. A., & Fassi, E. (2017). Genetic counseling in CHARGE syndrome: Diagnostic evaluation through follow up. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(4), 407–416.  Hsu, P., Ma, A., Barnes, E. H., Wilson, M., Hoefsloot, L. H., Rinne, T., . . . Mehr, S. (2016). The immune phenotype of patients with CHARGE syndrome. Journal of Allergy and Clinical Immunology: In Practice, 4(1), 96–103. Jyonouchi, S., McDonald-McGinn, D. M., Bale, S., Zackai, E. H., & Sullivan, K. E. (2009). CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: A comparison of immunologic and nonimmunologic phenotypic features. Pediatrics, 123(5), e871–e877. Markert, M. L., Devlin, B. H., Alexieff, M. J., Li, J., McCarthy, E. A., Gupton, S., . . . Hoehner, J. C. (2007). Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: Outcome of 44 consecutive transplants. Blood, 109(10), 4539–4547. Mehr, S., Hsu, P., & Campbell, D. (2017). Immunodeficiency in CHARGE syndrome. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(4), 516–523. Wong, M. T., Lambeck, A. J., van der Burg, M., la Bastide-van Gemert, S., Hogendorf, L. A., van Ravenswaaij-Arts, C. M. A., & Schölvinck, E. H. (2015). Immune dysfunction in children with CHARGE syndrome: A cross-sectional study. PloS ONE, 10(11), e0142350. Wong, M. T., Schölvinck, E. H., Lambeck, A. J., & van Ravenswaaij-Arts, C. M. A. (2015). CHARGE syndrome: A review of the immunological aspects. European Journal of Human Genetics, 23(11), 1451–1459.

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CHAPTER 16

Musculoskeletal System MARC S. WILLIAMS

INTRODUCTION The musculoskeletal system consists of over 200 bones and 500 muscles. Two aspects are critical: structure and function. Normal structure means that all of the components of the system (that is, the muscles and bones) are present and are in proper relationships to one another. Normal function means that the bones are maintaining the normal structural integrity of the skeleton, and the muscles (through contraction) are able to move the portions of the skeleton that are supposed to move (the joints). All structural abnormalities lead to functional abnormalities (although the severity of the abnormality may not be clinically significant), but not all functional abnormalities lead to structural abnormalities. For example, a person who suffers a spinal cord injury has structurally normal muscles and bones, but the muscles are functionally abnormal because of the absence of nerve signals. Cranial nerve dysfunction leading to swallowing difficulties (see Chapter 10) is the most common example of abnormal nerve functioning in CHARGE syndrome. Two other important concepts are strength and tone. Strength is the ability of a muscle or group of muscles to work against a load. It can be objectively measured. Tone, however, is a subjective assessment of muscle function at rest and takes an experienced professional to assess. When we are resting (i.e., not moving a particular muscle or group of muscles), there is a baseline level of activity that can be detected, which is referred to as muscle tone. Muscle tone helps with posture and maintaining normal skeletal relationships. Low 217

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tone is also called hypotonia. Individuals with low muscle tone are often described as floppy and may have slumped posture, problems with head control, standing, and so on. High tone is called hypertonia or spasticity. This can lead to abnormal joint positions, which may result in toe-walking, hip and knee flexion contractures, and so on. Abnormalities in muscle tone can be due to abnormalities of the nervous system (brain, spinal cord, spinal nerves, peripheral nerves, or connections between the nerve and the muscle) or to abnormalities within the muscle itself (myopathy). It may be difficult to distinguish between these two causes on clinical examination.

STRUCTURAL MUSCULOSKELETAL ABNORMALITIES IN CHARGE SYNDROME Between 30% and 80% of individuals with CHARGE syndrome (CS) are born with some type of structural musculoskeletal abnormality (Brock, Mathiason, Rooney, & Williams, 2003; Hale, Niederriter, Green, & Martin, 2016; Santoro et al., 2014; Tellier et al., 1998; Van de Laar et al., 2007). Severity can range from clinically insignificant to quite severe. Most of the literature consists of single case reports. The larger CS cohorts inconsistently characterize and document the musculoskeletal abnormalities. Only two studies have attempted to systematically characterize musculoskeletal abnormalities, and these were restricted to analysis of limb anomalies (Brock et al., 2003; Van de Laar et al., 2007). Musculoskeletal Abnormalities in Diagnostic Criteria and Health Supervision Until recently, the various clinical diagnostic criteria for CHARGE syndrome did not include musculoskeletal abnormalities as a criterion. In 2016, Hale et al. proposed a new set of diagnostic criteria that was the first to explicitly include molecular analysis of CHD7 as a major criterion. They also proposed including musculoskeletal abnormalities as a minor criterion, although these were presented in combination with renal anomalies (renal/skeletal/limb anomalies). No formal criteria exist for the prenatal diagnosis of CS. In 2012, Legendre et al. published a comprehensive assessment of prenatal findings in 40 fetuses with pathogenic variants in CHD7. In this study, 50% were found to have limb anomalies, and 25% had skeletal anomalies. Most of the limb anomalies affected digits of the hand or feet (camptodactyly, clinodactyly, phalangeal hypoplasia, abnormal position of the hallux). One case with bilateral ectrodactyly was identified. Skeletal anomalies most frequently involved abnormal rib number (11 or 13), or vertebral malformations including cleft

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and hemivertebrae. A subsequent review of prenatal findings in 12 patients diagnosed postnatally with CS did not identify any limb or skeletal anomalies, although the authors note that musculoskeletal abnormalities are seen frequently postnatally and could be seen on prenatal imaging (Busa et al., 2016). As more information accumulates about the clinical manifestations of CHARGE, particularly in adolescents and adults, a more comprehensive and consistent approach to anticipatory guidance can be implemented. In 2017, Trider, Arra-Robar, van Ravenswaaij-Arts, and Blake published a comprehensive health supervision checklist for CHARGE syndrome patients across the life span (see Appendix). This checklist includes three health items related to the musculoskeletal system: dual-energy x-ray absorptiometry (DEXA) scans for osteoporosis, monitoring for kyphosis and scoliosis, and evaluation of mobility, which can be impacted by both structural and functional musculoskeletal abnormalities, as well as other CS features, such as vision problems and malformation of the semicircular canals with attendant problems with balance. Spine and Vertebral Abnormalities Spine and vertebral anomalies have been reported in up to 60% of individuals with CHARGE. Unfortunately, most of these papers do not provide much detail about the nature of the structural defects or the functional impact of the abnormalities. Severe vertebral anomalies and rib fusions have been rarely reported in some patients categorized as atypical CS, but these were before molecular testing was available, so whether these patients had pathogenic variants in CHD7 is unknown. Strömland et al. (2005) reported that 25% of patients in their series had “spine anomalies.” An epidemiologic study from Canada (Issekutz, Graham Jr., Prasad, Smith, & Blake, 2005) noted that 35% of patients identified in their series had neck and shoulder anomalies, including short or webbed neck or sloping shoulders. In the best characterized series of patients who met diagnostic criteria and had a pathogenic variant in CHD7, the clinical description was limited to “hypoplastic vertebra” (  Jongmans et al., 2006). A series of 35 patients meeting the diagnostic criteria for CS who had confirmed pathogenic variants in CHD7 were systematically phenotyped, and 46% were noted to have spinal abnormalities (Santoro et al., 2014). Given that the focus of the paper was on cognitive-motor profile, details regarding the types of abnormalities were lacking. The best description of spine (and limb) anomalies was from a paper focused on atypical features that ultimately proposed expanded diagnostic criteria for CHARGE syndrome (Hale et al., 2016). Six of 16 patients (38%) with confirmed pathogenic variants in CHD7 were found to have vertebral or spinal abnormalities. All six had scoliosis, but structural anomalies were also noted, including fused vertebrae (two patients, one of whom had associated congenital scoliosis) and failure of fusion of posterior elements of a cervical vertebra (one patient).

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Scoliosis Scoliosis (lateral curvature of the spine) and kyphosis (forward bending of the spine, usually in the neck and upper back) are very common in children with CHARGE (Doyle & Blake, 2005) (see Figures 16–1, 16–2, and 16–3). Although scoliosis (kyphosis and scoliosis will be referred to as scoliosis for the rest of the discussion) is generally thought of as a teenage problem, it has been seen in children as young as age 3 years with CS. By the teenage years, up to 60% of individuals with CS have scoliosis of some degree. This may be due, at least in part, to the low muscle tone in the upper body. Structural vertebral anomalies could also contribute, although this has not been well characterized in the literature. The severity of the scoliosis can vary, but in some cases it is significant enough to require therapy, bracing, or surgery. Early identification is important, as it may allow more effective treatment (Kotwicki & Jozwiak, 2008). This is included as a recommendation for surveillance in the health supervision checklist published by Trider et al. (2017) (see Appendix). Untreated, severe scoliosis can compromise the lungs and heart, which may ultimately result in cardiorespiratory failure. Progressive scoliosis can result in abnormal positioning that compromises functional abilities (such as walking and use of

A

B

Figure 16–1. CHARGE-associated spinal deformity examples. (A) Four-year- and 8-month-old male with fully segmented thoracic hemivertebra and small apex left lumbar scoliosis. (B) Eighteenyear and 9-month-old female with 38° thoracic scoliosis and associated partially segmented hemivertebra.

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Figure 16–2.  Scoliometer reading of 11° for a right thoracic rib hump. Readings of 7° or greater should prompt spinal radiographs.

Figure 16–3.  Adams forward bending test. This patient demonstrates a significant right thoracic rib hump. 221

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upper extremities) and, in rare cases, can cause progressive damage to the spinal cord. There is conflicting evidence that variation in the CHD7 gene may be associated with idiopathic scoliosis. A potential association was reported by Gao et al. (2007). More recently, a larger study examining 244 families of European descent with idiopathic scoliosis did not identify evidence of either linkage analysis or tests of association between variants in the CHD7 gene and idiopathic scoliosis (Tilley et al., 2013). Therefore, the role of CHD7 in the growth and orientation of the spine is currently inconclusive. Limb Anomalies While often noted as rare in the literature, limb anomalies in CHARGE are actually quite frequent, with up to 60% of patients in carefully phenotyped series having evidence of limb abnormalities. Only one of the published CS clinical diagnostic criteria includes limb anomalies as a criterion, and it is only considered a minor criterion combined with renal and skeletal anomalies (Hale et al., 2016). A common feature is the characteristic hockey stick palmar crease, which has no functional significance but can be supportive of the clinical diagnosis (Figure 16–4). More significant anomalies include

Figure 16–4.  Hockey stick palmer crease.

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Figure 16–5. Hand radiograph demonstrating hypoplastic small finger. Note substantially smaller middle phalanx.

Figure 16–6.  Foot radiograph demonstrating multiple congenital anomalies.

radial aplasia, tibial hemimelia, ectrodactyly, syndactyly, polydactyly, phalangeal anomalies, and other miscellaneous anomalies (Figures 16–5 and 16–6). Comprehensive catalogues of anomalies are found in Brock et al. (2003) and Van de Laar et al. (2007). The underlying pathogenesis of the skeletal anomalies is not understood. This is due in part to a lack of detailed description of limb anomalies in the

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published case series, as well as the absence of a systematic analysis since the publication by Van de Laar et al. in 2007. Authors have speculated that since most CS anomalies involve tissues that develop from interactions between the ectoderm and mesoderm/mesenchyme, which is also key to the development of much of the musculoskeletal system (particularly the limbs), that this could be the underlying explanation for these occurring in CS ( Van de Laar et al., 2007; Williams, 2005). However, no evidence has developed to support or refute this hypothesis. Hypotonia Low muscle tone (hypotonia) is very common in individuals with CHARGE, especially in the upper body (trunk) (Figures 16–7A and 16–7B). Until recently, there had not been any individuals with CS known to have hypotonia due to a myopathy (abnormality of the muscles themselves). However, two interesting cases are worth mentioning. The first is an adolescent who had a var­ iant leading to premature termination of CHD7 and also developed juvenile muscular atrophy (Hirayama disease), which caused weakness and atrophy of their right hand and forearm ( Yagihashi et al., 2010). Spinal imaging revealed cardinal signs of Hirayama disease, including anterior displacement of the posterior dural sac, effacement of the cerebrospinal fluid space, and atrophy of the spinal cord. There are no other reports of this occurring in patients with CS, so whether this occurred as a result of the CHD7 variant or was coincidental is unable to be determined. However, the frequency of spinal abnormalities in CS, particularly involving the cervical spine, suggests a causal relationship. The second case was ascertained from a series of 60 patients/families with limb-girdle muscular dystrophy (LGMD) who underwent exome sequencing (Ghaoui et al., 2015). One patient was identified with a de novo variant in CHD7 (c.3398 C>T, p.T1133M). The patient and his mildly affected son were more completely described in another paper (O’Grady et al., 2016). The patient was noted to have small ears and hypoplasia of the semicircular canals, but no other significant features and was not considered to fulfill the diagnos­ tic criteria for CS. The shoulder configuration in these patients is similar to that often seen in CS (sloping and anteverted), but the underlying neuromuscular cause is still unknown. The authors concluded that phenotypes associated with CHD7 mutations should be expanded to include a musculoskeletal presentation (O’Grady et al., 2016). Low muscle tone may have an effect on development: if the upper body is floppy, it will be more difficult to sit alone or stand. Weak tone combined with vision loss and balance problems may delay a child from walking until ages 4 to 6 years. This is why the health supervision checklist of Trider et al. (2017) includes evaluation of mobility. The presence of low muscle tone will dramatically impact the creation and implementation of plans for physical and occupational therapy. Work with children affected with cerebral palsy has

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A

B

Figure 16–7. Clinical and radiographic appearance of forward-sloping shoulders in CHARGE syndrome. A. A 7-year and 6-month-old female demonstrating clinical ap­ pearance of forward-sloping shoulders. B. Chest x-ray of 12-year- and 5-month-old male demonstrating the “double scapular Y sign” produced by associated shoulder position.

also provided evidence that recognition and adaptive treatment of abnormalities of tone can positively impact speech and feeding. Hulme, Bain, Hardin, McKinnon, and Waldron (1989) reported that adaptive seating for hypotonic children resulted in positive effects in language and feeding. A Cochrane Evidence Review that addressed the role of speech therapy in children with cerebral palsy (Pennington, Goldbart, & Marshall, 2004) while criticizing the lack of high-quality studies in this area did recognize that positive trends in communication change were shown. Osteoporosis In a 2002 study, Brown and Josse identified risk factors for poor bone health and osteoporosis in the pediatric population. These included poor nutrition, inactivity, hypogonadism, and growth hormone deficiency—all of which are seen in CHARGE. The only study addressing this issue in individuals with CS (Forward, Cummings, & Blake, 2007) confirmed the presence of these risk factors in a survey of 30 individuals. Bone density assessment (using a

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DEXA scan) had been done in 10 patients. All of those tested had negative Z-scores (ranging from –0.9 to –4.7), suggesting low bone mineral density. To accurately interpret a DEXA scan, however, one must control for age, height, weight, sex, pubertal status, and race. The authors caution about overinterpretation of these results, as the DEXA scans are difficult to interpret even in healthy adolescents, let alone in individuals with CS, whose problems are magnified. The DEXA scan results in this paper were supplied by the individual or family, so there was no opportunity to standardize the interpretations. It was interesting to note that in four individuals with low bone mineral density who were treated with a variety of modalities, including hormone replacement, calcium, vitamin D, and bisphosphonates, there was at best modest improvement in bone density, a finding also noted in the patient reported by Searle, Graham Jr., Prasad, and Blake (2005). There were no reports of pathologic fractures or chronic bone pain. This has yet to be systematically studied in a large group of patients with CS. Osteoporosis surveillance for women (particularly postmenopausal women) is a well-established part of clinical care, but there are concerns that males (particularly those males at risk due to hormonal abnormalities) may not be diagnosed in a timely fashion (Ebeling, 2004). While there is no evidence for or against routine bone densitometry for patients with CS (beyond those for routine preventive care in all patients), it seems reasonable to have an increased index of suspicion for individuals with CS—particularly those with pituitary dysfunction. Densitometry can be considered based on clinical suspicion. Forward et al. (2007) suggest that there may be a role for serial DEXA scans to document changes in bone density over time. The health supervision checklist of Trider et al. (2017) recommends monitoring for osteoporosis using DEXA scan. The role of supplementation with calcium and vitamin D is unknown, although in patients with documented inadequate intake, supplementation is indicated. Hormone replacement is indicated to correct deficiency and may have the added benefit of improving bone density. There are no studies that address the use of bisphosphonates in individuals with CS who have low bone mineral density, though these are reportedly being used empirically. Given the expense and nature of the treatment, this is clearly an area that would benefit from prospective research.

EVALUATION FOR MUSCULOSKELETAL ABNORMALITIES Table 16–1 lists diagnostic and surveillance tests for the evaluation of the musculoskeletal system. The most important diagnostic test in very young children is a careful physical examination of the musculoskeletal system. Imaging studies (such as X-rays and ultrasounds) are indicated if there is suspicion of an abnormality on physical examination. A skeletal survey (to look at all the bones of the skeleton) is not routinely indicated, and tests of muscle

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16. Musculoskeletal System     227 Table 16–1.  Diagnostic and Surveillance Tests for Evaluation of Musculoskeletal Abnormalities Test

Indication

Skeletal survey

Never routinely indicated

Targeted X-ray, ultrasound (US), magnetic resonance imaging (MRI)

As indicated by specific finding on examination

Evaluate musculoskeletal features on imaging studies ordered for other reasons Electromyography (EMG)

Suspect primary muscle problem (rare in CHARGE)

Muscle biopsy

Suspect primary muscle problem (rare in CHARGE)

MRI spine/spinal cord

Suspect structural anomaly (congenital scoliosis, unusual presentation or progression of scoliosis) or spinal cord injury (changes in tone, reflexes, progressive weakness, changes in bowel/bladder function, asymmetry of neurologic examination

Bone densitometry: Dual-energy X-ray absorptiometry (DEXA) scan

As part of evaluation for possible hormone replacemtn

(muscle biopsy, electromyography [EMG]) are not generally indicated, unless a primary muscle problem is suspected. A regular physical examination for scoliosis is indicated. These examinations should begin as early as possible (no later than age 3 years) and should be repeated yearly—more frequently if the examination suggests scoliosis may be developing. If scoliosis is suspected, X-rays may be indicated to deter­ mine the extent of the scoliosis as well as to guide intervention. Routine bone densitometry is not supported by evidence but is included in the Trider health supervision checklist (2017) and could be considered in patients with hypogonadism, particularly if there is a history of fractures.

MANAGEMENT OF MUSCULOSKELETAL ABNORMALITIES Medical and/or surgical management is based on the type of anomaly. Abnormalities are not managed differently based on the diagnosis of CHARGE syndrome. The outcome following intervention is generally good but clearly

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depends on the severity of the problem and the treatment that is required. Occupational and physical therapies are helpful in dealing with low muscle tone, though decreased stamina, which can be seen with hypotonia, may limit the individual’s ability to tolerate the therapy. Communication and coordination between therapists, medical providers, and patients are essential.

CONCLUSION The prevalence of musculoskeletal abnormalities is common in CHARGE syndrome; 30% to 80% of individuals with CS present evidence of having one or more. The severity of anomalies has ranged from very minor (e.g., dermatoglyphic anomalies) to functionally significant (e.g., congenital hip dysplasia, syndactyly, polydactyly, radial aplasia, tibial hemimelia, ectrodactyly). While no consistent pattern of anomalies has been seen, scoliosis is the most frequently documented abnormality, with a mean age of diagnosis between 8 and 9 years of age (range: 3 to 19 years). Congenital scoliosis is occasionally seen. There is often a specific palmar crease pattern with a so-called “hockey stick” distal palmar crease, which is considered by some a supporting diagnostic feature with no functional significance. Hypotonia, particularly of the upper body, is common. This is likely to have a central nervous system origin. There have been no well-documented cases of a primary myopathy in individuals with CS. Muscle biopsy is not indicated unless a second diagnosis is suspected. Osteoporosis may occur in adolescents and adults with untreated hypogonadism and growth hormone deficiency (see Chapter 14). There are no data suggesting patients with CS are unusually susceptible to fractures. Routine bone densitometry is not supported by evidence but is included in the Trider health supervision checklist (2017, see Appendix) and could be considered in patients with hypogonadism, particularly if there is a history of fractures. Careful physical examination of the musculoskeletal system is the only “test” indicated in all patients. It is important to screen for scoliosis as early as possible (no later than age 3 years). Other diagnostic tests ( X-rays, ultra­ sounds, MRIs) may be indicated based on physical findings. X-rays obtained for other reasons (i.e., chest x-rays) should be examined carefully for skeletal abnormalities. Treatment is anomaly specific. No differences in therapy are necessary simply because the patient is diagnosed with CHARGE syndrome. If surgery or sedation is necessary, there are important caveats. Anesthetic risk is increased in children with airway involvement, such as choanal atresia or laryngotracheomalacia (both common in CHARGE; see Chapter 9). Children with choanal atresia and complex heart defects have the highest rate of serious complications and/or poor outcome. Finally, swallowing problems with increased secretions (presumably due to involvement of cranial nerves IX and X) may present an additional risk of aspiration.

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REFERENCES Brock, K. E., Mathiason, M. A., Rooney, B. L., & Williams, M. S. (2003). Quantitative analysis of limb anomalies in CHARGE syndrome: Correlation with diagnosis and characteristic CHARGE anomalies. American Journal of Medical Genetics Part A, 123(1), 111–121. Brown, J. P., Josse, R. G., & The Scientific Advisory Council of the Osteoporosis Society of Canada. (2002). 2002 clinical practice guidelines for the diagnosis and management of osteoporosis in Canada. Canadian Medical Association Journal, 167(10), S1–34. Busa, T., Legendre, M., Bauge, M., Quarello, E., Bretelle, F., Bilan, F., . . . Philip, N. (2016). Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome. Prenatal Diagnosis, 36(6), 561–567. Doyle, C., & Blake, K. D. (2005). Scoliosis in CHARGE: A prospective survey and two case reports. American Journal of Medical Genetics Part A, 133(3), 340–343. Ebeling, P. R. (2004). Idiopathic or hypogonadal osteoporosis in men: Current and future treatment options. Treatments in Endocrinology, 3(6), 381–391. Forward, K. E., Cummings, E. A., & Blake, K. D. (2007). Risk factors for poor bone health in adolescents and adults with CHARGE syndrome. American Journal of Medical Genetics Part A, 143(8), 839–845. Gao, X., Gordon, D., Zhang, D., Browne, R., Helms, C., Gillum, J., . . . Wise, C. (2007). CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis. American Journal of Human Genetics, 80(5), 957–965. Ghaoui, R., Cooper, S. T., Lek, M., Jones, K., Corbett, A., Reddel, S. W., . . . Clarke, N. F. (2015). Use of whole-exome sequencing for diagnosis of limb-girdle muscular dystrophy: Outcomes and lessons learned. JAMA Neurology, 72(12), 1424– 1432. Hale, C. L., Niederriter, A. N., Green, G. E., & Martin, D. M. (2016). Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria. American Journal of Medical Genetics Part A, 170(2), 344–354. Hulme, J. B., Bain, B., Hardin, M., McKinnon, A., & Waldron, D. (1989). The influence of adaptive seating devices on vocalization. Journal of Communication Disorders, 22(2), 137–145. Issekutz, K. A., Graham, J. M., Jr., Prasad, C., Smith, I. M., & Blake, K. D. (2005). An epidemiological analysis of CHARGE syndrome: Preliminary results from a Canadian study. American Journal of Medical Genetics Part A, 133(3), 309–317. Jongmans, M. C., Admiraal, R. J., van der Donk, K. P., Vissers, L. E., Baas, A. F., Kapusta, L., . . . van Ravenswaaij, C. M. A. (2006). CHARGE syndrome: The phenotypic spectrum of mutations in the CHD7 gene. Journal of Medical Genetics, 43(4), 306–314. Kotwicki, T., & Jozwiak, M. (2008). Conservative management of neuromuscular scoliosis: Personal experience and review of the literature. Disability and Rehabilitation, 30(10), 792–798. Legendre, M., Gonzales, M., Goudefroye, G., Bilan, F., Parisot, P., Perez, M., . . . AttiéBitach, T. (2012). Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations. Journal of Medical Genetics, 49(11), 698–707.

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230     CHARGE SYNDROME O’Grady, L. Ma, M., Siva, D., Wong, M. T. Y, Peduto, T, . . . Clarke, N.F. (2016). Prom­­ inent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease. European Journal of Human Genetics 24, 1216–1219. Pennington, L., Goldbart, J., & Marshall, J. (2004). Speech and language therapy to improve the communication skills of children with cerebral palsy. Cochrane Database of Systematic Reviews, (2), CD003466. Santoro, L., Ficcadenti, A., Zallocco, F., Del Baldo, G., Piraccini, F., Gesuita, R., . . . Gabrielli, O. (2014). Cognitive-motor profile, clinical characteristics and diagnosis of CHARGE syndrome: An Italian experience. American Journal of Medical Genetics Part A, 164(12), 3042–3051. Searle, L. C., Graham, J. M., Jr., Prasad, C., & Blake, K. D. (2005). CHARGE syndrome from birth to adulthood: An individual reported on from 0 to 33 years. American Journal of Medical Genetics Part A, 133(3), 344–349. Strömland, K., Sjögreen, L., Johansson, M., Joelsson, B. M. E., Miller, M., Danielsson, S., . . . Granström, G. (2005). CHARGE association in Sweden: Malformations and functional deficits. American Journal of Medical Genetics Part A, 133(3), 331–339. Tellier, A. L., Cormier-Daire, V., Abadie, V., Amiel, J., Sigaudy, S., Bonnet, D., . . . Lyonnet, S. (1998). CHARGE syndrome: Report of 47 cases and review. American Journal of Medical Genetics, 76(5), 402–409. Tilley, M. K., Justice, C. M., Swindle, K., Marosy, B., Wilson, A. F., & Miller, N. H. (2013). CHD7 gene polymorphisms and familial idiopathic scoliosis. Spine, 38(22), E1432–E1436. Trider, C. L., Arra-Robar, A., van Ravenswaaij-Arts, C., & Blake, K. (2017). Developing a CHARGE syndrome checklist: Health supervision across the lifespan (from head to toe). American Journal of Medical Genetics Part A, 173(3), 684–691. Van de Laar, I., Dooijes, D., Hoefsloot, L., Simon, M., Hoogeboom, J., & Devriendt, K. (2007). Limb anomalies in patients with CHARGE syndrome: An expansion of the phenotype. American Journal of Medical Genetics Part A, 143(22), 2712–2715. Williams, M. S. (2005). Speculations on the pathogenesis of CHARGE syndrome. American Journal of Medical Genetics Part A, 133(3), 318–325. Yagihashi, T., Hatori, K., Ishii, K., Torii, C., Momoshima, S., Takahashi, T., & Kosaki, K. (2010). Juvenile muscular atrophy of a unilateral upper extremity (Hirayama disease) in a patient with CHARGE syndrome. Molecular Syndromology,  1(2), 91–94.

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CHAPTER 17

Adult Medical Issues SUSAN WILEY

INTRODUCTION While there is some information about aging in individuals with CHARGE syndrome (CS), in general, our knowledge is based on relatively small numbers of older individuals with CS. Although medical problems in individuals with CS have been described, most studies do not include the impact of various treatment interventions. This is understandable due to the relative rarity of CS and the fact that each individual with CS has a unique set of issues. However, the lack of best practices limits our understanding of the needs of adults with CS.

SURVIVAL RATES Data published on a cohort of 50 pediatric patients with CHARGE (Blake, Russell-Eggitt, Morgan, Ratcliffe, & Wyse, 1990) are frequently cited to guide the premise of a 70% survival rate by the age of 5 years. In this study, 13 patients died by the age of 5 years, with the most common causes being aspiration (7 patients, 54%) and “sudden death.” This report was during a time period when CS was still thought to always cause severe intellectual disability, which may have influenced decisions about continuation of extraordinary care. Issekutz, Graham Jr., Prasad, Smith, and Blake (2005) subsequently reported on a population-based national cohort of individuals with CS in Canada. 231

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They identified 77 individuals over a 3-year period, of which 10 children (13%) had died, 9 of them 1 year old, and one at age 9 years. The authors noted bilateral posterior choanal atresia present in 4/10 of deceased patients and choanal stenosis present in 3/10 (7/10, 70% combined). Choanal atresia/ stenosis, conotruncal defects, and atrioventricular septal defects occurred at higher rates among deceased as compared to survivors. Central nervous system abnormalities were also more common among those who died, with ventriculomegaly, brainstem, and/or cerebellar anomalies being notable. Bergman et al. (2010) described a series of eight individuals with CS who died after the neonatal period. While this report did not include autopsy results, cases were well described. Deaths were frequently sudden and unexpected. Respiratory and cardiovascular problems were most frequently cited. One individual died due to a choking event. As compared to those who have survived, the patients in this case series were more likely to have a combination of respiratory difficulties and gastroesophageal reflux. Authors described an actuarial survival of 76% at the age of 25 years. Many changes have occurred within the field of health care since the report by Blake et al in 1990. With improved dissemination of medical needs and guidance (Blake et al., 1990; Blake et al., 1998; Trider, Arra-Robar, van Ravenswaaij-Arts, & Blake, 2017), clinicians may have improved recognition of the risks related to airway, cardiac, and aspiration risks in CS. There have been significant medical advancements in treatment of complex cardiac defects. These factors make it difficult to extrapolate past data to young children with CS born in more recent times.

ADOLESCENTS AND ADULTS: WHAT ARE THE ISSUES? There are relatively few publications regarding adolescents and adults with CS to guide our knowledge and care. Information on adolescents and adults is based on a combination of small case series, inclusion of adults in larger cohorts of individuals with CS, systematic reviews, and survey methodology. This constellation of information is helpful in recognizing medical, developmental, and behavioral issues that continue into adulthood and those that may arise in adulthood. A high utilization of specialty care has been described in adolescents and adults with CS (N. Hartshorne et al., 2016). As listed in Box 17–1, several studies (Blake & Hudson, 2017; Blake, Salem-Hartshorne, Daoud, & Gradstein, 2005; N. Hartshorne et al., 2016; Issekutz et al., 2005) have described adolescent and adult health conditions. Box 17–2 lists the specialists consulted by adults with CS. Trider, Arra-Robar, van Ravenswaaij-Arts, and Blake (2017) suggested referral of adults with CS to genetics to guide their understanding of likelihood/risks of having a child with CS.

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Box 17–1. Adolescent and Adult Health Issues in CHARGE n Feeding n Gastroesophageal reflux n Choking episodes n Abdominal migraines n Delayed puberty n Poor bone health n Obesity and low physical activity n Sleep apnea n Urinary tract infections n Retinal detachment

Box 17–2. Specialists Consulted by Adolescents and Adults With CHARGE n Otolaryngology n Audiology n Endocrinology n Ophthalmology and retinal specialists n Cardiology n Neurology n Psychiatry n Gastroenterology n Pulmonology n Urology n Orthopedics

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Behavioral challenges can continue to be prominent into adulthood. These issues may include obsessive-compulsive behaviors (OCD), anxiety, aggression, self-injurious behaviors, and tactile defensiveness (N. Hartshorne et al., 2016). In addition to accessing medical subspecialty care, it is important to follow usual adult preventive care guidelines such as those published by the American Academy of Family Physicians and the Agency for Healthcare Research and Quality in adults with CS. While there are no data on preventive health care in adults with CS, this has been noted as a general area of disparity in care for adults with intellectual and developmental disabilities (Krahn, Walker, & Correa-De-Araujo, 2015; Stransky, Jensen, & Morris, 2018). Medical Care Into Adulthood Blake et al. (1990) and Trider et al. (2017) described the importance of integrated management by primary care providers and subspecialists for individuals with CS. These models of care can be found in highly specialized pediatric institutions. Similar care delivery models would be beneficial within the adult care systems. Transition of Care Transition of care from a pediatric institution to an adult health care setting can be challenging to navigate. Because many medical conditions in CHARGE are pediatric-onset conditions (such as congenital heart defects [CHDs], cho­ anal atresia, cleft lip/palate), adult subspecialty providers may have less experience with the management of these conditions. Adult subspecialty providers may be less familiar with genetic diagnoses (which are more commonly made by pediatric geneticists) and may not have experience working with adults with developmental disabilities and complex medical issues. Medical Visits Communication challenges, behavioral needs, and cognitive abilities may require adaptations in how adult care is commonly implemented (Sullivan et al., 2019). While it is critical to engage the individual with CHARGE in participating in the visit, their level of communication and knowledge of their own health history may require the inclusion of an adult caregiver or support person. Caregivers can support decision-making through an understanding of the individual’s values, priorities, and goals. Caregivers and support persons should be able to communicate with the individual with CS and serve as an interface with medical providers. This should not be seen as a replacement for a sign

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language interpreter if an individual uses sign language, but as supplemental to ensure effective understanding. Providers will need to consider accommodations for the individual with CS, including allowing supported learning at their level of comprehension. Use of interpreters and visual supports to help relay what will happen in a visit can allow for a more effective visit. Individuals with CS may have had medical experiences that influence cooperation and participation in visits. Gaining an understanding of strategies that have worked well in past medical visits prior to starting the visit can facilitate a smoother experience for all. Facilitating supported decisionmaking by an individual with CS is highly encouraged. Effective inclusion in the health care process (appointments, decision-making, etc.) is likely to increase visit length due to the inclusion processes and the high medical and developmental complexity among individuals with CS. Hearing The majority of individuals with CS have hearing loss (see Chapters 3 and 8). Ongoing ENT and audiologic surveillance is important in this population. Middle ear disease should be aggressively managed, as it can have an additive impact through conductive hearing loss. T. S. Hartshorne, Stratton, Brown, Madhavan-Brown, and Schmittel (2017) noted hearing difficulties as the condition most commonly impacting activities of daily living. Hearing as It Impacts Visits Communication skills and language proficiency can be quite variable in CS (see Chapters 24, 25, and 26). Communication modalities may include spoken language, sign language, gestures, pictures, and reliance on technology. Within care settings, it is important to allow an adolescent/adult with CS to be an active participant in the visit (Probst & Morrow, 2019). Respecting an individual’s communication needs will help build rapport and allow for participation. Inclusion of caregivers in understanding an individual’s needs is an important consideration for those individuals with more significant cognitive impairments. Health Literacy Recognition of varying levels of health literacy will also guide approaches for conveying health information and treatment planning. Every country has a different set of laws and regulations. Providers in the United States should review what is required to be in compliance with the Americans with Disabilities Act (ADA) (Steinberg, Barnett, Meador, Wiggins, & Zazove, 2006; Withers & Speight, 2017), which is the U.S. federal law that focuses on

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accessibility for individuals with disabilities. While sign language interpreters are an important consideration for individuals who are Deaf/Hard of Hearing, for individuals who are Deaf-Blind (as are most individuals with CS), Support Service Providers (SSPs, e.g., National Center on DeafBlindness, Registry for Interpreters for the Deaf) have been instrumental in promoting independence and communication access. Vision Ophthalmologic conditions in individuals with CS have been described (see Chapter 2). Most individuals with CS have coloboma, which most often affects visual field, but may have other implications depending on on location and other findings such as cataracts, microcornea, or microophthalmia. Poor lid closure due to cranial nerve abnormalities is common and puts individuals at risk for corneal exposure and later-onset cataracts. While it is easy to assume there is little that can be done for coloboma, there can be conditions amenable to refraction, including myopic astigmatism and anisometropia (Nishina et al., 2012). Ongoing ophthalmologic care into adulthood is critical for individuals with CS. With aging, it is important to maximize functional vision, protect residual vision, prescribe glasses for refractive errors, and pro­ vide close monitoring for changes in vision due to risks for retinal detachment (15%) (N. Hartshorne et al., 2016) and cataracts (Nishina et al., 2012). Change in vision can markedly impact independence and participation. Cardiac Anomalies Congenital heart defects in children with CHARGE have been well characterized (Corsten-Janssen, van Ravenswaaij-Arts, & Kapusta, 2016; Issekutz et al., 2005; Lalani et al., 2006; see Chapter 12) and are listed in Box 17–3. Changes in endurance can be linked to late-onset cardiac manifestations of congenital heart disease. The development of pulmonary hypertension related to undiagnosed obstructive sleep apnea is also a theoretical possibility among adults with CS (Trider et al., 2012). Ongoing monitoring of cardiac health, preferably in a clinic that specializes in adults with congenital heart defects, is an important consideration for adults with CS. Choanal Atresia Long-term outcomes due to the presence of choanal atresia/stenosis in individuals with CHARGE are unknown. A study by Samadi, Shah, and Handler (2003) described a large group of children who had choanal atresia with repair and were followed for 3 years. Among the 78 children, 12 (15%) had CS.

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Box 17–3. Common Cardiac Defects in CHARGE n Tetralogy of Fallot n Patent ductus arteriosus n Conotruncal defects n Atrioventricular canal n Ventricular septal defects n Atrial septal defects n Coarctation of the aorta n Arch vessel anomalies n Valve anomalies n Vascular ring

The authors described no differences in the number of procedures required to correct the atresia and no differences in complications. In this study, those with bilateral choanal atresia required more surgical procedures (4.9 procedures compared to 2.7 procedures among those with unilateral atresia repair). Other authors have also noted a higher risk of re-stenosis of choanal atresia among children with CS. Within the pediatric literature, higher rates of re-stenosis in broad groups of children with choanal atresia have been described (Friedman, Mitchell, Bailey, Albert, & Leighton, 2000). It is helpful to recognize those individuals who have had a choanal atresia repair in childhood, as there can be a risk for re-stenosis. This suggests ongoing monitoring into adulthood would be appropriate. Renal Genitourinary abnormalities have also been described in approximately 20% to 40% of individuals with CS (Issekutz et al., 2005; Tellier et al., 1998; see Chapters 13 and 14). These are listed in Box 17–4. Long-term issues related to many of the abnormalities have not been well described. It is possible that they may be underrecognized, and if early screening evaluations were not completed, late manifestations of unrecognized kidney malformations could become apparent into adulthood. N. Hartshorne et al. (2016) described adultonset urinary tract infections in 26% of those surveyed.

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Box 17–4. Renal Anomalies in CHARGE n Solitary kidney n Horseshoe kidney n Duplicated kidney n Duplicated ureter n Renal hypoplasia n Cystic kidneys n Hydronephrosis n Reflux

Dental Care Good dental hygiene is important for all people. Among individuals with CS, there can be a variety of factors impacting dental care. The presence of cleft palate can be associated with dental crowding (Lewis, Jacob, & Lehmann, 2017). If an individual with CS has a history of a successful salivary duct ligation to reduce saliva production, this can increase the risk for dental caries (Stern, Feinmesser, Collins, Shott, & Cotton, 2002). Mouth breathing has been associated with dental concerns (Inchingolo et al., 2014). Additionally, the effect of acid from untreated/undertreated gastroesophageal reflux on ena­mel can impact dental health (Kumar, Mungara, Venumbaka, Vijayakumar, & Karunakaran, 2018). Some individuals with CS have oral aversions that can impact day-to-day brushing and flossing. Periodontal disease and bruxism (teeth grinding) have been described in a small case series of individuals with CS (Inchingolo et al., 2014). Some individuals with CS may have difficulty cooperating with a comprehensive dental examination. In these situations, examination and dental rehabilitation under anesthesia may be warranted. Not only are the health benefits of good dental care important, but unrecognized dental issues can cause pain and prompt new-onset behaviors. For individuals with CS, ongoing dental hygiene and care carry into adulthood. Endocrine Individuals with CS can have endocrine abnormalities (see Chapter 14), most commonly hypogonadotropic hypogonadism (Balasubramanian & Crowley Jr.,

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2017; Dijk, Bocca, & van Ravenswaaij-Arts, 2019; see Chapter 14). Hypothy­ roidism has been described in one case (Asakura et al., 2008). Growth hormone deficiency has also been described (Asakura et al., 2008; Esposito et al., 2014). Small case series (Gregory et al., 2013) also note the potential for pitu­ itary stalk abnormalities with associated impact on pituitary function. These conditions can be identified in childhood. Adult-onset endocrinologic disorders have not been described. Puberty and Sexuality It is well recognized that adolescents with CS frequently exhibit delayed puberty related to hypogonadotropic hypogonadism (see Chapter 14). Many individuals with CS require hormone replacement therapy to initiate and/or sustain puberty. Families may have many questions about the rationale behind promoting pubertal development. It is helpful to have a well-informed conversation about the benefits and risks of hypogonadism on long-term health. Sharing resources to help an individual with CS understand changes in their body can also be helpful. The Healthy Bodies Toolkit (Vanderbilt Kennedy Center) is a good resource if a child has good functional vision. This resource provides information about body changes and socially appropriate behaviors and provides visual supports to guide hygiene and self-care. In the United States, state deafblind projects have a focus on transition and may know of additional resources helpful for an adolescent with CS (Belote, 1997). It is important to pursue usual care such as immunizations and gynecological care. Some individuals with CS may be fertile and have children. Adolescents and adults with special health care needs and those with low communication skills can be vulnerable for mistreatment. Educating individ­ uals with CS on sexuality is an important element of usual care (Walters & Gray, 2018). Bone Health Because adolescents with CS frequently exhibit delayed puberty related to hypogonadotropic hypogonadism, risks regarding bone health are higher than the general population. When adolescents receive care from an endocrinologist, the benefits of hormone replacement therapy can be discussed. Treatment with hormone replacement therapy can establish puberty at earlier ages to promote improved bone density and bone health. Forward, Cummings, and Blake (2007) surveyed caregivers of 30 adolescents and adults with CS about pubertal development and bone health. There was a high rate of scoliosis (50%), and 30% had experienced traumatic bone fractures. Among the 10 individuals (aged 16–34 years), with dual-energy x-ray absorptiometry (DEXA) scans, 3/10 had bone densities within the normal range (–0.9 to –1.9), and 7/10 had osteoporosis (–3.4 to –4.6). Four individuals had

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post-treatment DEXA scans. Treatment varied and could include hormone replacement therapy, calcium, vitamin D, and bisphosphonates. Two of these four had normal post-treatment DEXA scans: one improved slightly, and the other worsened slightly (though not into the range of osteoporosis). Due to the high risk of osteoporosis in adolescents and adults with CS, it is appropriate to be proactive regarding bone health. Obtaining a diet history and monitoring vitamin D levels are good standards of care for all individuals. Physical activity should be encouraged. Kong and Martin (2018) described 1,25-dihydroxyvitamin D levels in six individuals with CS. Four had vitamin D deficiency, and two had vitamin D insufficiency. This suggests room for improvement in monitoring vitamin D levels and optimizing dietary intake of vitamin D. Based on risk factors and laboratory findings, supplementation with calcium and vitamin D should be considered. DEXA scans can be helpful in understanding whether an individual with CHARGE has osteoporosis. However, Forward et al. (2017) cautioned that it may be difficult to interpret DEXA scan results in this population. Treatment of osteoporosis in individuals with CS has not been well described (one individual in the Forward et al. study was on bisphosphonate, with improvement in DEXA scan results). The population described was still relatively young; hence, long-term fracture risk is unknown. Scoliosis In a survey by Doyle and Blake (2005), 19/31 (61%) adolescents and adults with CS had scoliosis. The average age at diagnosis of scoliosis was 6.25 years with a range of 3 to 19 years. Six (31%) of those with scoliosis had been treated with growth hormone. Thirteen (42%) of the individuals with scoliosis were described as moderate to severe and were treated with bracing. Two of the 19 with scoliosis were treated surgically. Comorbidities from the scoliosis and long-term outcomes were not reported. Within the general literature on childhood-onset scoliosis, a curve greater than 30° has been associated with restrictive lung disease (Redding, 2014). Gastrointestinal, Growth, and Feeding Issues Gastrointestinal (GI) problems in individuals with CHARGE are common (see Chapter 10). These conditions often continue (and change) into adulthood (Box 17–5) and may include gastroesophageal reflux disease (GERD), chronic constipation related to dysmotility, and abdominal pain. These factors can mark­ edly impact quality of life (T. S. Hartshorne et al., 2017). Untreated chronic GERD has been associated with the risk for Barrett’s esophagitis and esophageal cancer. Alternatively, chronic proton pump inhibitor (PPI) use has been

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Box 17–5. Gastrointestinal Issues in CHARGE n Poor oral strength and coordination n Aspiration n GERD n Esophageal dysmotility n Chronic constipation n Abdominal pain n Hiatal hernia n Late dumping n Food allergies n Esophageal stricture following tracheoesophageal fistula

repair

associated with gastric polyps (Khalaf, Brock, & Castell, 2017) and a higher risk for GI infections such as Clostridium difficile ( Jump & Donskey, 2015). It is very common for individuals with CS to have feeding difficulties into adolescence and adulthood, including choking episodes. A number of factors contribute to feeding difficulties, including cranial nerve dysfunction, structural anomalies and complications following surgeries (impacting strength, oral-motor coordination, swallow reflex), aspiration, esophageal dysmotility, gastroesophageal reflux, hiatal hernia, late dumping, food allergies, and the potential development of esophageal strictures following surgical repair of tracheoesophageal fistulas (Aramaki et al., 2006; Blake & Hudson, 2017; Dijk et al., 2019; Hudson, MacDonald, & Blake, 2016; Kong & Martin 2018; Morgan, Hudson, Arra-Robar, & Blake, 2017; Searle, Graham Jr., Prasad, & Blake, 2005). Being underweight (Legendre et al., 2017) and a propensity toward obesity (Blake et al., 2005; Searle et al., 2005) in adolescence and adulthood have been described in CS. Regarding general feeding behaviors, Hudson, Macdonald, and Blake (2016) described the experiences of 20 families of children and adults (aged 2 to 32 years) with CS. There was a greater rate of cleft palate in this cohort (40%) in comparison to the rate found in broader populations of CS (15% to 20%). Most families (90%) reported chewing problems at some point in their child’s life. Packing food in cheeks and palate were described in 30% of cases. Packing behaviors contributed to a prolonged mealtime and food remaining in the cheeks for hours after a meal. Many parents (30%) worried

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Box 17–6. Helpful Mealtime Tips From Families n Keep to structured family mealtime n Use close supervision during meals n Use verbal prompts for chewing and swallowing n Cook foods to soft structure  n Use liquids to help foods go down n Cut food into small bites that can be swallowed n Limit amounts on plate n Use modified utensils

about choking. This high level of worry is likely due to the finding that 5/18 (28%) of the individuals with CS in this study with swallowing problems had a history of aspiration, and 3/18 (17%) had difficulties managing certain food textures. Approaches to safe feeding are important to convey to individuals with CS and their caregivers alike. Box 17–6 lists the strategies families found helpful at mealtime (Hudson, Macdonald, & Blake, 2016). The association between enteral feeding and gallstones has been noted in the general literature (Jawaheer, Shaw, & Pierro, 2001). Clinicians should be alert for symptoms of gallbladder disease, which can be challenging in individuals with lower communication levels and atypical responses to pain. Pulmonary Considerations and Aspiration Due to cranial nerve and airway abnormalities, individuals with CS are at high risk for aspiration and choking. Unrecognized and untreated aspiration can have a long-term impact on adolescents and adults with CS. Chronic lung damage can become apparent in older ages, particularly in the face of an acute respiratory illness. According to Kong and Martin (2018), 22% of 23 individ­ uals (aged 3 to 33 years) with CS had asthma. Age-related changes could also impact swallowing over time and confer a higher risk of aspiration. Komatsuzaki et al. (2014) reported a case of a woman who died suddenly at age 40 years. She had not been previously diagnosed with CS but was noted to have tracheal-bronchial stenosis and circumferential fibrosis on direct scope. Autopsy findings included squamous metaplasia, nonspecific granulomatous findings, and hyperplasia of the glands of

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the bronchi. The authors theorized that recurrent respiratory illnesses may have contributed to her tracheal stenosis. If an adolescent or adult with CS has increasing respiratory illnesses or changes in swallowing, further workup should be considered. Immune System Immune issues in CHARGE were summarized by Mehr, Hsu, and Campbell (2017) (see Chapter 15). Children with CS have been noted to have frequent infections and an insufficient response to pneumococcal vaccination in almost a third of their population (Wong et al., 2015). Jyonouchi, McDonaldMcGinn, Bale, Zackai, & Sullivan (2009) noted a variety of immunologic problems including lymphopenia, severe combined immunodeficiency, hypogammaglobulinemia, and immunoglobulin A deficiency. This information is important for health care providers to know if an adult with CS who has been noted to have immunodeficiencies becomes ill. Sleep Sleep problems are common in children with CS (T. S. Hartshorne et al., 2009; Trider et al., 2012; see Chapter 22). Reports from adults with CS suggest this issue persists into adulthood. N. Hartshorne et al. (2016) noted sleep difficulties in 59% and sleep apnea in 25% of their adolescent and adult cohort of 53 individuals. Sleep problems were noted to impact the quality of life in almost a third of their cohort. Sleep hygiene continues to be an important consideration into adulthood. Individuals with the craniofacial anomalies common in CS, including choanal atresia/stenosis and cleft lip and palate, have a higher risk for obstructive sleep apnea (OSA). Changes in daytime arousal (daytime sleepiness) and signs of OSA (snoring, respiratory pauses, atypical sleep position) warrant an evaluation with a sleep study. Untreated OSA has been linked to pulmonary hypertension and heart failure. An echocardiogram is needed to identify these secondary conditions. Pain The experience of acute and chronic pain in individuals with CS has also been noted in the literature (T. S. Hartshorne et al., 2017; see Chapter 29). While this has not been specifically queried within the adult population, it is important to remember that individuals with CS may exhibit changes in behavior when experiencing pain. Stratton and Hartshorne (2012) developed the CHARGE Non-Vocal Pain Assessment to measure pain in individuals with

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CS. Being thoughtful about the impact of pain allows clinicians to address the underlying cause of pain and implement treatment for pain.

Behavior and Mental Health Problem behaviors have been described in adolescents and adults with CS (see Chapter 27). Anxiety has been noted by numerous authors (N. Hartshorne et al., 2016; T. S. Hartshorne et al., 2017). Autistic-like behaviors are also frequently discussed with varying opinions regarding the attribution of these features to aspects of the genetic syndrome and multisensory impairment (Richards, Jones, Groves, Moss, & Oliver, 2015). As described in Chapter 27, self-injury, aggression, self-stimulatory behaviors, tactile defensiveness, tics, maladaptive routines, and obsessivecompulsive disorder can be present in individuals with CS (Bernstein & Denno 2005; Wachtel, Hartshorne, & Dailor, 2007). Difficulties with selfregulation have also been described (T. S. Hartshorne, Hefner, & Davenport, 2005; T. S. Hartshorne et al., 2017). Bernstein and Denno (2005) provide an excellent description of approaches to understanding behaviors through the use of a functional behavioral assessment. Based on their experience and findings from their study, the authors also describe potential approaches and strategies to allow individuals with CS to build more adaptive and functional behaviors. When discussing behaviors, it is helpful to consider the functional impact of the behavior. Some behaviors, while perhaps distressing to some, may not negatively impact day-to-day functioning for the individual with CS. Van Dijk and de Kort (2005) also present approaches to support behavioral challenges in individuals with CS. The use of psychotropic medications has been described in children with CS (Wachtel et al., 2007). Among 87 parents, 43% had children on be­­ havioral medications. Of those on behavioral medications, 59% practiced polypharmacy. The use of serotonin-reuptake inhibitors has been reported to be effective in individuals with CS to decrease levels of anxiety (T. S. Hartshorne et al., 2017). Identifying behavioral supports to address the needs of individuals with CS is critical. Medication alone is not sufficient in addressing behavioral problems. Maladaptive behaviors can have significant impact on the quality of life. For example, eye-poking, a self-injurious behavior, can prompt a decline in vision with further impact on independence and functioning. Identifying and accessing providers with expertise in working with individuals with developmental disabilities and multisensory impairments can be challenging depending on where an individual lives and can also be impacted by insurance coverage. Finally, an early focus on building effective communication skills is critically important to reduce the potential development of behaviors that serve

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a communicative role (Thelin & Fussner, 2005). It is never too late to work on building expanding communication capabilities in individuals with CS. Physical Activity and Well-Being Physical activity has been noted to be important for overall health and wellbeing throughout life. As obesity has been observed in older individuals with CS, implementing physical activities that the individual is capable of doing can help address this concern. N. Hartshorne et al. (2016) noted that 30% of adolescents and adults with CS had limitations in walking which impacted daily functioning. Oppewal and Hilgenkamp (2019) described physical fitness in individuals with intellectual disability over the age of 50 years. This study found aspects of physical fitness, including manual dexterity, grip strength, gait speed, and cardiorespiratory fitness, were associated with a lower mortality rate. An individual’s motivation for the activity and availability of activities are important considerations to support physical activity (see Chapter 20).

TRANSITION TO ADULT HEALTH CARE A number of resources are available to help guide the transition. The American Academy of Pediatrics, the American Academy of Family Physicians, and the American College of Physicians have published a guideline to address the needs of transition to the adult health care setting (White et al., 2018). This report discusses the various barriers to successful transition and provides a framework for understanding the phases of transition, including preparation, transfer, and integration into adult health care. The guideline provides guidance on core elements of transition as well as tools to support effective transition (such as a transition readiness survey). The website, “Got Transition” (https://www.gottransition.org/index.cfm) provides additional supports and tools to ensure successful transition to adult health care settings.

COMMUNITY PARTICIPATION AND CARE Transition to adult health care providers is only one area of need in transitioning to adulthood. Individuals with CHARGE have health, behavioral, sensory impairment, vestibular, and communication needs, each of which has a potential impact on inclusion and community participation. CHARTING the LifeCourse is a tool that provides a comprehensive ap­proach across domains beyond health care and finance. The domains encompass Daily Life and Employment, Community Living, Safety and Security,

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Healthy Living, Social and Spirituality, and Citizenship and Advocacy. When planning for transition to adulthood, time and thoughtfulness are needed across each domain. Based on data from N. Hartshorne et al. (2016), many adults with CS con­ tinue to rely on family members or others to support day-to-day functioning, including finances, transportation to school or work, and shopping. Assistance with aspects of decision-making, guardianship, power of attorney, and long-term financial planning may be needed for many adults with CS. Multisensory impairment can markedly impact social networking and peer interactions. Isolation and limited opportunities for socialization may negatively impact the mental health of an individual with CS. Building a network of support from early on may contribute to enhanced resilience among individuals with CS.

CONCLUSION Individuals with CS vary considerably in their health, developmental, cognitive, social-emotional, and independence domains. Some individuals achieve a higher degree of independence than others. Optimally, the goal is always to support all individuals with CS to achieve their maximal potential as well as allow families to empower their loved ones to live self-determined and pro­ ductive lives.

REFERENCES American Academy of Family Physicians. (2018, June 1). Adult preventive health care schedule: Recommendations from the USPSTF. Retrieved from https:// www.aafp.org/dam/AAFP/documents/journals/afp/PreventiveHealthCareSched ule2018.pdf American Academy of Family Physicians. (n.d.). Health maintenance and counseling. Retrieved from https://www.aafp.org/afp/topicModules/viewTopicModule.htm ?topicModuleId=64 Aramaki, M., Udaka, T., Kosaki, R., Makita, Y., Okamoto, N., Yoshihashi, H., . . . Kosaki, K. (2006). Phenotypic spectrum of CHARGE syndrome with CHD7 mutations. Journal of Pediatrics, 148(3), 410–414. Asakura, Y., Toyota, Y., Muroya, K., Kurosawa, K., Fujita, K., Aida, N., . . . Adachi, M. (2008). Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome. Journal of Clinical Endocrinology and Metabolism, 93(3), 920–924. Balasubramanian, R., & Crowley, W. F., Jr. (2017). Reproductive endocrine phenotypes relating to CHD7 mutations in humans. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(4), 507–515.

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17. Adult Medical Issues     247 Belote, M. (1997). Taking the fear out of sex education: What is sex education. California Deaf-Blind Services reSources Newsletter, 9(3), 4–7. Bergman, J. E. H., Blake, K. D., Bakker, M. K., du Marchie Sarvaas, G. J., Free, R. H., & Van Ravenswaaij-Arts, C. M. A. (2010). Death in CHARGE syndrome after the neonatal period. Clinical Genetics, 77(3), 232–240. Bernstein, V., & Denno, L. S. (2005). Repetitive behaviors in CHARGE syndrome: Differential diagnosis and treatment options. American Journal of Medical Genetics Part A, 133(3), 232–239. Blake, K. D., Davenport, S. L. H., Hall, B. D., Hefner, M. A., Pagon, R. A., Williams, M. S., . . . Graham, J. M., Jr. (1998). CHARGE association: An update and review for the primary pediatrician. Clinical Pediatrics, 37(3), 159–173. Blake, K. D., & Hudson, A. S. (2017). Gastrointestinal and feeding difficulties in CHARGE syndrome: A review from head-to-toe. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(4), 496–506. Blake, K. D., MacCuspie, J., & Corsten, G. (2012). Botulinum toxin injections into salivary glands to decrease oral secretions in CHARGE syndrome: Prospective case study. American Journal of Medical Genetics Part A, 158(4), 828–831. Blake, K. D., Russell-Eggitt, I. M., Morgan, D. W., Ratcliffe, J. M., & Wyse, R. K. (1990). Who’s in CHARGE? Multidisciplinary management of patients with CHARGE association. Archives of Disease in Childhood, 65(2), 217–223. Blake, K. D., Salem-Hartshorne, N., Daoud, M. A., & Gradstein, J. (2005). Adolescent and adult issues in CHARGE syndrome. Clinical Pediatrics, 44(2), 151–159. CHARTING the LifeCourse. (n.d.). Understanding: Life domains. Retrieved from http://www.lifecoursetools.com/principles/understanding-life-domains/ Corsten-Janssen, N., van Ravenswaaij-Arts, C. M., & Kapusta, L. (2016). Congenital arch vessel anomalies in CHARGE syndrome: A frequent feature with risk for comorbidity. IJC Heart and Vasculature, 12, 21–25. Dijk, D. R., Bocca, G., & van Ravenswaaij-Arts, C. M. (2019). Growth in CHARGE syndrome: Optimizing care with a multidisciplinary approach. Journal of Multidisciplinary Healthcare, 12, 607. Doyle, C., & Blake, K. (2005). Scoliosis in CHARGE: A prospective survey and two case reports. American Journal of Medical Genetics Part A, 133(3), 340–343. Esposito, A., Tufano, M., Di Donato, I., Rezzuto, M., Improda, N., Melis, D., & Salerno, M. (2014). Effect of long-term GH treatment in a patient with CHARGE association. Italian Journal of Pediatrics, 40(1), 51. Forward, K. E., Cummings, E. A., & Blake, K. D. (2007). Risk factors for poor bone health in adolescents and adults with CHARGE syndrome. American Journal of Medical Genetics Part A, 143(8), 839–845. Friedman, N. R., Mitchell, R. B., Bailey, C. M., Albert, D. M., & Leighton, S. E. J. (2000). Management and outcome of choanal atresia correction. International Journal of Pediatric Otorhinolaryngology, 52(1), 45–51. Got Transition. (n.d.). Retrieved from https://www.gottransition.org/index.cfm Gregory, L. C., Gevers, E. F., Baker, J., Kasia, T., Chong, K., Josifova, D. J., . . . Dattani, M. T. (2013). Structural pituitary abnormalities associated with CHARGE syndrome. Journal of Clinical Endocrinology and Metabolism, 98(4), E737–E743. Hartshorne, N., Hudson, A., MacCuspie, J., Kennert, B., Nacarato, T., Hartshorne, T., & Blake, K. D. (2016). Quality of life in adolescents and adults with CHARGE syndrome. American Journal of Medical Genetics Part A, 170(8), 2012–2021.

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248     CHARGE SYNDROME Hartshorne, T. S., Hefner, M. A., & Davenport, S. L. (2005). Behavior in CHARGE syndrome: Introduction to the special topic. American Journal of Medical Genetics Part A, 133(3), 228–231. Hartshorne, T. S., Heussler, H. S., Dailor, A. N., Williams, G. L., Papadopoulos, D., & Brandt, K. K. (2009). Sleep disturbances in CHARGE syndrome: Types and relationships with behaviour and caregiver well-being. Developmental Medicine and Child Neurology, 51, 143–150. Hartshorne, T. S., Stratton, K. K., Brown, D., Madhavan-Brown, S., & Schmittel, M. C. (2017). Behavior in CHARGE syndrome. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(4), 431–438. Hudson, A., & Blake, K. (2016). Newly emerging feeding difficulties in a 33-year-old adult with CHARGE syndrome. Journal of Clinical Medicine Research, 8(1), 56. Hudson, A., Macdonald, M., & Blake, K. (2016). Packing and problematic feeding behaviors in CHARGE syndrome: A qualitative analysis. International Journal of Pediatric Otorhinolaryngology, 82, 107–115. Inchingolo, F., Pacifici, A., Gargari, M., Garcia, J. A., Amantea, M., Marrelli, M., . . . Tatullo, M. (2014). CHARGE syndrome: An overview on dental and maxillofacial features. European Review for Medical Pharmacological Sciences, 18, 2089–2093. Issekutz, K. A., Graham, J. M., Jr., Prasad, C., Smith, I. M., & Blake, K. D. (2005). An epidemiological analysis of CHARGE syndrome: Preliminary results from a Canadian study. American Journal of Medical Genetics Part A, 133(3), 309–317. Jawaheer, G., Shaw, N. J., & Pierro, A. (2001). Continuous enteral feeding impairs gallbladder emptying in infants. Journal of Pediatrics, 138(6), 822–825. Jump, R. L., & Donskey, C. J. (2015). Clostridium difficile in the long-term care facility: Prevention and management. Current Geriatrics Reports, 4(1), 60–69. Jyonouchi, S., McDonald-McGinn, D. M., Bale, S., Zackai, E. H., & Sullivan, K. E. (2009). CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11. 2 deletion syndrome: A comparison of immunologic and nonimmunologic phenotypic features. Pediatrics, 123(5), e871–e877. Khalaf, M., Brock, A. S., & Castell, D. (2017). Sporadic fundic gland polyps and gastric acid suppression level. American Journal of the Medical Sciences, 354(6), 561–564. Komatsuzaki, K. M., Shimomura, S., Tomishima, Y., Honda, T., Fukasawa, K., Oyama, T., & Miyashita, Y. (2014). Progressing subglottic and tracheobronchial stenosis in a patient with CHARGE syndrome diagnosed in adulthood. Respiratory Medicine Case Reports, 12, 24–26. Kong, F., & Martin, D. M. (2018). Atopic disorders in CHARGE syndrome: A retro­ spective study and literature review. European Journal of Medical Genetics, 61(4), 225–229. Krahn, G. L., Walker, D. K., & Correa-De-Araujo, R. (2015). Persons with disabilities as an unrecognized health disparity population. American Journal of Public Health, 105(S2), S198–S206. Kumar, K. S. S., Mungara, J., Venumbaka, N. R., Vijayakumar, P., & Karunakaran, D. (2018). Oral manifestations of gastroesophageal reflux disease in children: A pre­ liminary observational study. Journal of Indian Society of Pedodontics and Preventive Dentistry, 36(2), 125.

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17. Adult Medical Issues     249 Lalani, S. R., Safiullah, A. M., Fernbach, S. D., Harutyunyan, K. G., Thaller, C., Peter­ son, L. E., . . . Belmont, J. W. (2006). Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. American Journal of Human Genetics, 78(2), 303–314. Legendre, M., Abadie, V., Attié-Bitach, T., Philip, N., Busa, T., Bonneau, D., . . . Gilbert-Dussardier, B. (2017). Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(4), 417–430. Lewis, C. W., Jacob, L. S., & Lehmann, C. U. (2017). The primary care pediatrician and the care of children with cleft lip and/or cleft palate. Pediatrics, 139(5), e20170628. Mehr, S., Hsu, P., & Campbell, D. (2017). Immunodeficiency in CHARGE syndrome. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(4), 516–523. Morgan, A., Hudson, A., Arra-Robar, A., & Blake, K. D. (2017). Late dumping syndrome in a 17-year-old female with CHARGE syndrome. Journal of Paediatrics and Child Health, 53(12), 1244–1245. National Center on Deaf-Blindness. (n.d.). Retrieved from https://nationaldb.org /library/page/2166 Nishina, S., Kosaki, R., Yagihashi, T., Azuma, N., Okamoto, N., Hatsukawa, Y., . . . Kosaki, K. (2012). Ophthalmic features of CHARGE syndrome with CHD7 mutations. American Journal of Medical Genetics Part A, 158(3), 514–518. Oppewal, A., & Hilgenkamp, T. I. (2019). Physical fitness is predictive for 5-year survival in older adults with intellectual disabilities. Journal of Applied Research in Intellectual Disabilities, 32(4), 958–966. Probst, K. M., & Morrow, S. (2019, February 15). Supporting individuals who are DeafBlind. Registry of Interpreters for the Deaf, Inc. Retrieved from https://rid .org/supporting-individuals-who-are-deafblind/ Redding, G. J. (2014). Early onset scoliosis: A pulmonary perspective. Spine Deformity, 2(6), 425–429. Richards, C., Jones, C., Groves, L., Moss, J., & Oliver, C. (2015). Prevalence of autism spectrum disorder phenomenology in genetic disorders: A systematic review and meta-analysis. Lancet Psychiatry, 2(10), 909–916. Samadi, D. S., Shah, U. K., & Handler, S. D. (2003). Choanal atresia: A twenty-year review of medical comorbidities and surgical outcomes. Laryngoscope, 113(2), 254–258. Searle, L. C., Graham, J. M., Jr., Prasad, C., & Blake, K. D. (2005). CHARGE syndrome from birth to adulthood: An individual reported on from 0 to 33 years. American Journal of Medical Genetics Part A, 133(3), 344–349. Steinberg, A. G., Barnett, S., Meador, H. E., Wiggins, E. A., & Zazove, P. (2006). Health care system accessibility. Journal of General Internal Medicine, 21(3), 260. Stern, Y., Feinmesser, R., Collins, M., Shott, S. R., & Cotton, R. T. (2002). Bilateral submandibular gland excision with parotid duct ligation for treatment of sialorrhea in children: Long-term results. Archives of Otolaryngology-Head and Neck Surgery, 128(7), 801–803. Stransky, M. L., Jensen, K. M., & Morris, M. A. (2018). Adults with communication disabilities experience poorer health and healthcare outcomes compared to persons without communication disabilities. Journal of General Internal Medicine, 33(12), 2147–2155.

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250     CHARGE SYNDROME Stratton, K. K., & Hartshorne, T. S. (2012). The CHARGE Non-Vocal Pain Assessment. Retrieved from http://www.chargesyndrome.org/wp-content/uploads/2016/03 /non-vocal-pain-assessment.pdf Sullivan, W. F., Heng, J., McNeil, K., Bach, M., Henze, M., Perry, A., & Vogt, J. (2019). Promoting health care decision-making capabilities of adults with intellectual and developmental disabilities. Canadian Family Physician, 65(1), S27. Tellier, A. L., Cormier-Daire, V., Abadie, V., Amiel, J., Sigaudy, S., Bonnet, D., . . . Lyonnet, S. (1998). CHARGE syndrome: Report of 47 cases and review. American Journal of Medical Genetics, 76(5), 402–409. Thelin, J. W., & Fussner, J. C. (2005). Factors related to the development of communication in CHARGE syndrome. American Journal of Medical Genetics Part A, 137(1), 282–290. Trider, C. L., Arra-Robar, A., van Ravenswaaij-Arts, C., & Blake, K. (2017). Developing a CHARGE syndrome checklist: Health supervision across the lifespan (from head to toe). American Journal of Medical Genetics Part A, 173(3), 684–691. Trider, C. L., Corsten, G., Morrison, D., Hefner, M., Davenport, S., & Blake, K. (2012). Understanding obstructive sleep apnea in children with CHARGE syndrome. International Journal of Pediatric Otorhinolaryngology, 76(7), 947–953. Vanderbilt Kennedy Center. (2013, June). The Healthy Bodies Toolkit. Retrieved from https://vkc.mc.vanderbilt.edu/healthybodies/ van Dijk, J. P., & de Kort, A. (2005). Reducing challenging behaviors and fostering efficient learning of children with CHARGE syndrome. American Journal of Medical Genetics Part A, 133(3), 273–277. Wachtel, L. E., Hartshorne, T. S., & Dailor, A. N. (2007). Psychiatric diagnoses and psychotropic medications in CHARGE syndrome: A pediatric survey. Journal of Developmental and Physical Disabilities, 19(5), 471–483. Walters, F. P., & Gray, S. H. (2018). Addressing sexual and reproductive health in adolescents and young adults with intellectual and developmental disabilities. Current Opinion in Pediatrics, 30(4), 451–458. White, P. H., Cooley, W. C., American Academy of Pediatrics, & American Academy of Family Physicians. (2018). Supporting the health care transition from adolescence to adulthood in the medical home. Pediatrics, 142(5), e20182587. Withers, J., & Speight, C. (2017). Health care for individuals with hearing loss or vision loss: A minefield of barriers to accessibility. North Carolina Medical Journal, 78(2), 107–f112. Wong, M. T., Lambeck, A. J., van der Burg, M., la Bastide-van Gemert, S., Hogendorf, L. A., van Ravenswaaij-Arts, C. M., & Schölvinck, E. H. (2015). Immune dys­ function in children with CHARGE syndrome: A cross-sectional study. PloS ONE, 10(11), e0142350.

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PART III

Developmental Issues in CHARGE Syndrome

W

e often refer to “children with CHARGE,” but of course, adolescents and adults also have CS, and our knowledge is rapidly increasing as the cohort of young children we first began to follow in 1993 has entered adulthood. This section addresses many of the developmental challenges faced by individuals with CS as they age. In particular, Chapter 23 (which includes the perspectives of multiple authors and several young adults with CS) reviews development from infancy through young adulthood.

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CHAPTER 18

Cognitive Development NANCY SALEM-HARTSHORNE

INTRODUCTION Cognitive abilities, IQ, intelligence: these interchangeable terms, though rela­­ tively easy to assess in the general population, are particularly difficult to deter­ mine for the CHARGE syndrome (CS) population. Many factors contribute to this difficulty, especially the combination of sensory deficits and early severe medical complications.

RANGE OF COGNITIVE ABILITIES IN INDIVIDUALS WITH CHARGE The population of individuals with CHARGE has been described in terms of intellectual outcome as determined by observations and a variety of IQ mea­ sures. Early observations estimated that about 50% of the population has good intellectual outcomes with about 25% having moderate developmental out­ comes and about 25% with very poor outcomes (Blake, Russell-Eggitt, Morgan, Ratcliffe, & Wyse, 1990). Trevisi, Ciorba, Aimoni, Bovo, and Martini (2016) reported that 11/31 children had a “satisfactory intellectual outcome.” Le­ gendre et al. (2017) estimated that about two-thirds of 119 individuals with CS had IQs below 70, based on reports by clinicians, not formal evaluations. 253

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Vesseur, Langereis, Free, Snik, van Ravenswaaij-Arts, and Mylanus (2016) and Dammeyer (2012) did formal developmental testing by deafblind experts on children with CS. Vesseur reported that 24/41 (59%) had IQs below 70, while Dammeyer found that 12/17 (70%) had IQs above 70. When combined, these two studies correspond with good intellectual outcomes in 50% (29/58). Salem-Hartshorne and Jacob (2004, 2005) found that about half of a sam­ ple of 100 children with CHARGE had developmental abilities falling within the low average to average range, as assessed using an adaptive behavior scale administered to their parents. The other half of the sample had scores falling in the impaired range and spreading about equally across all possible scores. Longitudinally, these findings were found to be stable over time. Raqbi et al. (2003) found a similar ratio of 50% average, 25% low average, and 25% impaired in their assessments of 21 children with CS. Interestingly, although children with CHARGE are most often born with multiple complex medical conditions necessitating intense or long-term treat­ ment, the above studies did not find severity of medical conditions to be a predictor of intellectual outcomes. Possible Prognostic Factors Salem-Hartshorne and Jacob (2005) found that children with CHARGE who walked earlier had better intellectual outcomes. In addition, early toilet train­ ing seemed to be correlated with better outcomes. Significant positive relation­ ships were also found between the adaptive behavior measure (used in place of formal intellectual assessment) and the following: (a) level of reading decod­ ing and comprehension and (b) the number of friendships the individual enjoys. Raqbi et al. (2003) lists three prognostic factors related to the intellectual out­ comes in their study. The first is extensive bilateral coloboma resulting in low vision, which correlates with poor outcome. They explain that although vestib­ ular difficulties can predict poorer intellectual outcome, having good vision can be a compensatory factor for vestibular impairment. Nearly all individuals with CS have some (typically significant) impairment of the vestibular system, while the degree of vision loss is more variable. Raqbi et al. suggest that those individuals with CS having both an impaired vestibular system and severe bilat­ eral coloboma will have poorer intellectual outcomes than those with an impaired vestibular system and better vision. The second and third prognostic factors suggested by Raqbi et al. (2003) to predict poorer intellectual outcomes are microcephaly and brain malfor­ mations. They further suggest that although the half of their sample who seemed to do well intellectually still had motor delays, these could be attrib­ uted to sensory problems rather than central nervous system dysfunction. Sensory integration factors, as well as the interaction of many systems (psychomotor, sensory, and cognitive) have more recently been found to affect scholastic achievement in children with CHARGE. Lasserre, Vaivre-Douret,

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and Abadie (2013) found a common profile of cognitive and psychomotor abilities in children with CS. Results of assessments revealed difficulties with postural control, visuospacial construction, sequential processing, and selec­ tive attention. The participants did well with perceiving things holistically, semantics, logical reasoning and planning, and “axial and peripheral hypoto­ nia.” Although results showed consistency, it should be noted that the study had only eight participants. They do suggest that although the absolute causes are unknown, older children are likely to experience problems in school. The researchers list difficulties with attention span, long periods of time sitting requiring postural control causing fatigue, slow handwriting, mathematics sequen­­tial processes, and social difficulties such as managing space, waiting turns, and impulsivity as factors that contribute. The one consensus among researchers seems to be that intellectual abil­ ity in individuals with CHARGE syndrome is difficult to assess and probably stems from multiple interacting factors.

CHALLENGES IN ASSESSMENT Multiple factors may account for the difficulty in accurately determining the abilities of these individuals. Many of these are discussed in detail in other chapters in this volume. Hearing and Vision Deficits First, nearly all individuals with CHARGE have hearing loss and most also have vision loss. Although accurate cognitive assessment of children with hearing impairment or visual impairment has been standardized, cognitive assessment of individuals who have dual sensory impairments is more elusive. Some assess­ ment instruments can be useful, but they must be used cautiously, especially when attempting to report an actual score. The validity of these methods with this population has not been well established; therefore, scores from these instruments should not be used for decision-making purposes (i.e., eligibility for programs) unless the examiner has confidence that the individual under­ stood the process of assessment, and the examiner understood the individu­ al’s responses to an adequate degree. Vestibular Issues Second, the overwhelming majority of individuals with CHARGE have some sort of difficulty with their vestibular sense. Therefore, it is imperative that an individual’s vestibular functioning be taken into account when administering

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any kind of assessment. For example, some individuals with CS feel the need to rock or move when asked to stand in one place. This movement may be giving input into their joints, telling their brain where they are in space, and allowing them to remain stable. Many individuals with CS have difficulty with stability of their heads and, thus, their usable vision. This is caused by malfor­ mation or absence of the vestibulo-ocular reflex (see Chapter 5), a system of muscles originating from the vestibular organs of the ears that attaches to the muscles responsible for eye movement. This reflex allows the eyes to focus on objects in place while the head moves. These individuals may prefer to lie on their sides or lay their heads down in order to read, write, or examine and manipulate objects adequately. Supporting this notion is a finding by Lasserre et al. (2013) that when children with CS were given two popular standard­ ized intelligence tests for children, tests of visual-motor skills were the most difficult and lowest scoring. Formal assessment of intellectual ability must be conducted taking these vestibular and stability issues into account. Sensory Integration and Fatigue Third, individuals with CHARGE often have strong sensory integration needs. Many have low muscle tone and/or spinal anomalies, both of which can cause fatigue. During assessment sessions, preferred sensory items should be made available with frequent breaks. For example, a child may be fatigued from sit­ ting up and concentrating. Allowing the child to assume a more comfortable posture and sensory situation, such as lying down on a mat with a blanket over their head or preferred toy, will allow them to regain their stamina. If these needs are not recognized, a score from a formalized assessment is likely to be affected by fatigue behaviors or escalation of frustration and will likely result in an underestimate of the individual’s intellectual ability. Medical and Health Issues Fourth, children with CHARGE are frequently born with multiple physical issues and medical requirements that are quite intense. These may include heart defects, breathing troubles, and eating difficulties. The first months and even years of life are often spent merely trying to survive. Until homeostasis is achieved in the infant/toddler, learning about the outside world is less likely to take place. The amount of time spent in hospitals and recovering from major surgeries can make them unavailable for learning. In the same sense that exam­ iners and early interventionists frequently age-correct for prematurity when scoring assessments, the months or years that a child with CS was not available for learning should be taken into account when evaluating a child’s over­ all intellectual development.

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Unique Instructional Needs: Deafblind Education Fifth, individuals with CHARGE are unique in their instructional needs because of combined hearing and vision loss. Most early intervention and school programs are not prepared to meet the needs adequately without support and consultation. The fact that consultation is available (in the United States) through state DeafBlind projects is not often widely recognized or utilized. Because of this, some individuals with CS may merely have lost out on appro­ priate learning opportunities, resulting in a lag in their achievement and asso­ ciated brain development, and/or perceived intellectual abilities.

Assessment Setting Finally, family and caregiver input is an essential ingredient in assessment. Often, children with CHARGE will display ability in one setting that they do not in another. Emerging communication may be understandable to a parent or caregiver but not to the professional administering the assessment. There­ fore, it is essential that family members and caregivers be an integral part of conducting an assessment on a child with CS in order to ensure that valuable and useful information is not missed.

CONCLUSION No typical individual with CHARGE syndrome exists. The range of abilities found in this population is large and varied. For example, I have met individu­ als with CHARGE who need 24-hour care and supervision, and others who have achieved graduate degrees. The range of outcomes also appears to be changing for the better. The studies done by Salem-Hartshorne and Jacob (2004, 2005) followed a sample of children who were born in the 1980s and early 1990s. Understanding and management of the medical issues in CS have improved vastly since that time. Information about appropriate educational strategies for children with multiple sensory deficits has improved. Access to online resources and digital devices and apps has increased opportunities even for those in remote areas. There is reason to believe that outcomes for chil­ dren with CS will continue to improve in the future. It is increasingly clear that the complexity of these individuals makes indi­­vidualized, standardized assessment of intellectual ability a challenging endeavor. Formal intellectual assessment is not the assessment of choice for individuals with CHARGE. In essence, it becomes merely a score—a score that follows the individual, accurate or not, throughout their lifetime and is of little

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value in planning for their lives. Such scores are more likely to be listings of deficits rather than identifiers of strengths. It is more important to determine each individual’s strengths and needs, through formal and informal assessment, consultation, interview, and observation. Using such determinations, practi­ tioners will be able to create a school, work, and/or home environment that not only builds on the unique needs and strengths of the person but also responds specifically to that individual’s preferences, sensory needs, and commu­ nication gaps, thus promoting social integration into the natural community.

Recommendations Although an IQ score simply cannot provide sufficient information to create a supportive learning environment, several assessment techniques can provide such useful information: n Choosing Options and Accommodations for Children

(COACH) (Giangreco, Cloniger, & Iverson, 2011) is a tool used by assessment teams to assist families in choosing priorities for learning for their child, leading to meaningful goals and objectives in the Individualized Education Plan (IEP). n Hometalk (Harris et al., 2002) provides families with the

means to present the school with a comprehensive report about their child from the family perspective. n The Supports Intensity Scale (Thompson et al., 2015)

assesses the intensity and frequency of support needs of the indivi­dual in various domains. n Adaptive behavior scales can assist with planning for

real-life learning needs that, when met, will lead to more independence. n Person-Centered Planning techniques (MAPS, Personal

Futures Planning [Pearpoint, Forest, & O’Brien, 1996]) use a powerful and holistic, person- and family-centered approach to brainstorming, which results in a more complete picture of the individual’s characteristics, relationships, dreams, needs, and desired outcomes. These instruments used individually or in combination will provide a much richer representation of the individual with CHARGE syndrome.

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REFERENCES Blake, K. D., Russell-Eggitt, I. M., Morgan, D. W., Ratcliffe, J. M., & Wyse, R. K. (1990). Who’s in CHARGE? Multidisciplinary management of patients with CHARGE asso­ ciation. Archives of Disease in Childhood, 65(2), 217–223. Dammeyer, J. (2012). Development and characteristics of children with Usher syn­ drome and CHARGE syndrome. International Journal of Pediatric Otorhinolaryngology, 76(9), 1292–1296. Giangreco, M. F., Cloniger, C. J., & Iverson, V. S. (2011). Choosing outcomes and accommodations for children: A guide to educational planning for students with disabilities (3rd ed.). Baltimore, MD: Paul H. Brookes Publishing. Harris, J., Hartshorne, N., Jess, T., Mar, H., Rowland, C., Sall, N., & Wolf, T. (2002). HomeTalk: A family assessment of children who are deafblind. Portland, OR: Oregon Institute on Disability and Development. Lasserre, E., Vaivre-Douret, L., & Abadie, V. (2013). Psychomotor and cognitive impairments of children with CHARGE syndrome: Common and variable features. Child Neuropsychology, 19(5), 449–465. Legendre, M., Abadie, V., Attié-Bitach, T., Philip, N., Busa, T., Bonneau, D., . . . Gilbert-Dussardier, B. (2017). Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(4), 417–430. Pearpoint, J., Forest, M., & O’Brien, J. (1996). MAPs, Circles of Friends, and PATH: Powerful tools to help build caring communities. In S. Stainback & W. Stainback (Eds.), Inclusion: A guide for educators (pp. 67–86). Baltimore, MD: Paul H. Brookes Publishing. Raqbi, F., Le Bihan, C., Morisseau-Durand, M. P., Dureau, P., Lyonnet, S., & Abadie, V. (2003). Early prognostic factors for intellectual outcome in CHARGE syndrome. Developmental Medicine and Child Neurology, 45(7), 483–488. Salem-Hartshorne, N., &  Jacob, S. (2004). Characteristics and development of chil­ dren with CHARGE association/syndrome. Journal of Early Intervention, 26(4), 292–301. Salem-Hartshorne, N., & Jacob, S. (2005). Adaptive behavior in children with CHARGE syndrome. American Journal of Medical Genetics Part A, 133(3), 262–267. Thompson, J., Bryant, B., Schalock, R., Shogren, K., Tassé, M., Wehmeyer, M., . . . Rotholz, D. (2015). Supports Intensity Scale. Washington, DC: American Associa­ tion on Mental Retardation. Trevisi, P., Ciorba, A., Aimoni, C., Bovo, R., & Martini, A. (2016). Outcomes of longterm audiological rehabilitation in CHARGE syndrome. Acta Otorhinolaryngologica Italica, 36(3), 206–214. Vesseur, A., Langereis, M., Free, R., Snik, A., van Ravenswaaij-Arts, C., & Mylanus, E. (2016). Influence of hearing loss and cognitive abilities on language development in CHARGE syndrome. American Journal of Medical Genetics Part A, 170(8), 2022–2030.

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CHAPTER 19

Social/Emotional Development MEGAN C. SCHMITTEL

INTRODUCTION Social-emotional development refers to the development of skills necessary to develop (i.e., establish and maintain) relationships, engage in positive interactions with others, and regulate one’s emotions (Rose-Krasnor & Denham, 2009). Attachment, social skills, and emotion regulation skills are all important components of social-emotional development (Cohen, Onunaku, Clothier, & Poppe, 2005). Attachment begins in early infancy when a baby develops a bond with a parent or primary caregiver and paves the way for the development of future relationships. As a child’s social circle expands, social interactions increase, and children learn social skills (e.g., greeting, sharing, gaining peer attention, responding) and emotion regulation skills through modeling and feedback from others. As a child becomes older and begins to transition into adulthood, relationships become more complex, and appropriate social skills and emotion regulation skills become necessary to sustain positive interactions and maintain relationships with others (Cassidy, 1994).

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ATTACHMENT Attachment is an important aspect of social-emotional development. Attachment starts in infancy when a newborn forms a bond with parents and/or caregivers and continues throughout an individual’s lifetime as relationships are developed with others. The attachment a baby has with his or her caregiver lays the foundation for the development of future relationships. Individuals who form a secure attachment with a parent are more likely to have positive relationships later in life, whereas individuals who form an insecure attachment with a parent are more likely to experience negative or unpredic­ table relationships later in life (Berger, 2015). Attachment is reciprocal by nature, and many factors play into attachment between a child and a caregiver, includ­ing characteristics of both. Publications on caregiver characteristics that affect attachment include research on quality of parenting, sensitivity, respon­ sivity, emotional availability, acceptance, predictability, maternal self-esteem, mental illness, and family stress. Very little has been published on child characteristics that may affect attachment, with the exception of temperament and types of disability (Huebner & Thomas, 1995). However, how these two factors relate to attachment is still unclear. Reda and Hartshorne (2008) conducted a study examining attachment, bonding, and parental stress in parents of 25 children diagnosed with CHARGE syndrome (CS). Fifty-two percent of parents reported an insecure attachment with their child. Upon further investigation, there were a few variables that were correlated with this insecure attachment: stress related to behavioral characteristics of the child, age at which a parent could hold their child, and the amount of time a child spent in the hospital after birth. An important component of developing attachment is the bond felt between the child and caregiver (Bowlby, 1969). Reda and Hartshorne found that the length of time a child took to demonstrate that he or she was attached to the parent was related to the length of time it took the parent to feel bonded with his or her child. The multitude of physical and medical difficulties inherent in children with CS (e.g., lack of facial expression due to facial palsy, nonresponsiveness to parents’ voice, inability to hold an infant who is hospitalized, or difficulty reaching for a parent because of physical difficulties) may create barriers to exhibiting attachment. Therefore, the way a child with CS displays attachment may be very different than typically developing children, making it challenging for parents to recognize signs of attachment. Additionally, the authors found the level of parental stress was related to bonding. Parents experiencing higher levels of stress reported feeling less bonded with their child. Wulffaert et al. (2009) reported high levels of stress among parents of children with CS, which may inhibit the bond felt between parents and their child with CS (see Chapter 30). Attachment is very important for future relationships (Berger, 2015); thus, early intervention specialists should focus on the relationship between

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parent and child. They can help parents understand the alternative and creative ways that their children might be showing attachment. Additionally, early intervention specialists can help parents manage the stress that often comes with raising a child with CHARGE ( Wulffaert et al., 2009; see Chapter 30). A robust family support system can also help alleviate parental stress.

SOCIAL SKILLS Social skills encompass a wide variety of behaviors that individuals use on a daily basis to develop social relationships and maintain positive interactions with others. Although children with CHARGE seem socially interested (see Chapter 27), they seem to have difficulty developing social skills. There are a variety of reasons why individuals with CS may have difficulty with these skills. Typically developing children learn appropriate social skills incidentally, by watching others and receiving feedback (both positive and negative) from peers regarding certain behaviors. Multiple sensory impairments (i.e., hearing, vision, vestibular, proprioceptive) limit the ability to access important visual and auditory clues for learning and developing the social skills necessary for initiating and maintaining positive social interactions. In addition to sensory impairments, some individuals with CS have an intellectual disability that may result in misinterpretation of social situations, and thus potential development of inappropriate social skills. Individuals with CS may have distinct physical features (e.g., facial palsy, floppy ears, mismatched eyes, etc.) that may be intimidating or disconcerting, resulting in fewer peers initiating interactions, reducing the opportunities for learning and practicing social skills. Individuals with CS may engage in vocalizations and odd, repetitive body movements to help them self-regulate. These actions may inhibit some children’s ability to form social relationships, either because peers may find the behaviors off-putting or children with CS may spend more time engaging in these behaviors and less time engaging in social interactions. Finally, individuals with CS have varying communication styles that may differ greatly from peers, creating difficulty with peer interactions and reducing the number of opportunities to socialize (Bruce, Zatta, Gavin, & Stelzer, 2016). Less time in social interactions means fewer opportunities to learn and practice appropriate skills necessary for building and maintaining social relationships. Lack of experience socializing and misunderstanding or missing social cues is likely to result in delayed development of appropriate social behav­ iors, which may cause these children to appear disinterested in their peers. Given the combination of social difficulties and the behavioral characteristics (e.g., repetitive movements, sensory seeking behaviors; see Chapter 27), many children with CS are often described as exhibiting “autistic-like behaviors.” Hartshorne, Grialou, and Parker (2005) used the Autism Behavior Checklist (Krug, Arick, & Almond, 1993) to compare “autistic-like behaviors” in children

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with CS to children diagnosed with autism and other children who are deafblind. Results indicated that the mean score on the Autism Behavior Checklist was significantly lower for children with CS compared to children diagnosed with autism but significantly higher than other children who are deafblind. While individuals with CS engage in some autistic-like behaviors, they are more socially engaged than those diagnosed with autism. Children with CS were found to be more responsive to social cues and more likely to make eye contact and seek out touch from peers. Additionally, children with CS were more likely to form friendships. So, although individuals with CS engage in repetitive behaviors similar to individuals diagnosed with autism, they seem to be more interested in and more successful in developing and maintaining social relationships. Further research on social skill development in individuals with CHARGE is needed to develop interventions to help promote social development. Because individuals with CS may not learn social skills incidentally as do typically developing children, direct instruction of social skills is necessary. There are a variety of packaged interventions (e.g., Circle of Friends, SecondStep, Program for the Evaluation and Enrichment of Relational Skills, etc.) that can be used or adapted to teach specific social skills. Some interventions utilize typically developing peers to instruct, model, and provide feedback to individuals needing additional support. One intervention that may be particularly helpful in social skill development of children with CS is Circle of Friends. Circle of Friends creates a friend group around an individual with a disability. Individuals included in the friend group build relationships with the individual and support him or her in various social experiences (see Chapter 23).

EMOTION REGULATION Emotion regulation can be defined as an individual’s ability to control the expression of emotions. A person does this by managing the intensity and timing of emotional responses to situations, particularly those situations that might elicit intense emotions. This might be done by avoiding certain situations, changing a routinely heightened situation, turning attention away from a situation, or changing the internal thought patterns that are leading to intense emotions. These strategies can be employed during an intense emotional state to change the intensity of emotions or the amount of time experiencing intense emotions (Kennert, Ramirez, Hartshorne, Deuce, & Nicholas, 2015). Executive functioning is a critical part of engaging in the above-mentioned strategies to effectively self-regulate emotions. Hartshorne, Nicholas, Grialou, and Russ (2007) used the Behavior Rating Inventory of Executive Functioning (Gioia, Isquith, Guy, & Kenworthy, 2000) to study executive functioning in children with CHARGE. Roughly half of the individuals with CS surveyed

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had difficulty keeping themselves from engaging in impulsive behaviors, transitioning between activities, and monitoring and regulating their own behaviors. Only a third of individuals with CS surveyed had difficulty managing their emotions, which is the most direct measure of emotion regulation on the BRIEF. However, half of the individuals surveyed had clinically significant scores on the Behavior Regulation Index, which includes modulating emotions. In order to help individuals with CHARGE syndrome learn to self-regulate their emotions, it is important to teach them to identify when they are feeling emotions by helping them learn how certain emotions feel in their body and by providing them with language to express emotions in their preferred mode of communication. Modeling, teaching, and reinforcing appropriate emotional responses to events as they are occurring will help individuals learn what responses are appropriate or inappropriate. Helping the individuals recognize when they are in emotionally charged situations and teaching them how to avoid those situations or minimize their emotional response will ultimately aid in the development of their self-regulation skills (Kennert et al., 2015). Franco (2018) conducted a study looking at the effect of Fun Chi (an adapted form of Tai Chi) on emotion regulation in children with CS. While the sample size in the study was small (n = 5), results suggested that mindfulness strategies such as Fun Chi may have a positive impact on emotion regulation in individuals with CS (Franco, 2018).

REFERENCES Berger, K. S. (2015). The developing person through childhood (7th ed.). New York, NY: Worth Publishers. Bowlby, J. (1969). Attachment and loss (Vol. 1). New York, NY: Basic Books. Bruce, S. M., Zatta, M. C., Gavin, M., & Stelzer, S. (2016). Socialization and selfdetermination in different-age dyads of students who are deafblind. Journal of Visual Impairment and Blindness, 110(3), 1–9. Cassidy, J. (1994). Emotion regulation: Influences of attachment relationships. Monographs of the Society for Research in Child Development, 59(2–3), 228–249. Cohen, J., Onunaku, N., Clothier, S., & Poppe, J. (2005). Helping young children succeed: Strategies to promote early childhood social and emotional development. Denver, CO: National Conference of State Legislatures. Franco, M. A. R. (2018). The use of a fun chi video on sleep and emotion selfregulation in children with CHARGE syndrome [Unpublished doctoral dissertation]. Central Michigan University. Gioia, G. A., Isquith, P. K., Guy, S. C., & Kenworthy, L. (2000). Behavior rating of executive function: Professional manual. Lutz, FL: Psychological Assessment Resources. Hartshorne, T. S., Grialou, T. L., & Parker, K. R. (2005). Autistic-like behavior in CHARGE syndrome. American Journal of Medical Genetics Part A, 133(3), 257–261.

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266     CHARGE SYNDROME Hartshorne, T. S., Nicholas, J., Grialou, T. L., & Russ, J. M. (2007). Executive function in CHARGE syndrome. Child Neuropsychology, 13(4), 333–344. Huebner, R. A., & Thomas, K. R. (1995). The relationship between attachment, psychopathology and childhood disability. Rehabilitation Psychology, 40(2), 111–124. Kennert, B., Ramirez, M., Hartshorne, T. S., Deuce, G., & Nicholas, J. (2015). Self‐ regulation of emotion in CHARGE syndrome. DBI Review, 54, 26–30. Krug, D. A., Arick, J. R., & Almond, P. J. (1993). Autism screening instrument for educational planning (2nd ed.). Austin, TX: Pro-Ed. Program description. (2016). Circle of friends. Retrieved from https://www.circleo friends.org/program-description Reda, N. M., & Hartshorne, T. S. (2008). Attachment, bonding, and parental stress in CHARGE syndrome. Mental Health Aspects of Developmental Disabilities, 11(1), 1–12. Rose-Krasnor, L., & Denham, S. (2009). Social-emotional competence in early childhood. In K. H. Rubin, W. M. Bukowski, & B. P. Laursen (Eds.), Handbook of peer interactions, relationships, and groups (pp. 162–179). New York, NY: Guilford Press. Wulffaert, J., Scholte, E. M., Dijkxhoorn, Y. M., Bergman, J. E. H., van Ravenswaaijarts, C. M. A., & van Berckelaer-Onnes, I. A. (2009). Parenting stress in CHARGE syndrome and the relationship with child characteristics. Journal of Developmental Physical Disabilities, 21(4), 301–313.

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CHAPTER 20

Promoting Motor Development PAMELA HAIBACH-BEACH, MELANIE E. PERREAULT, and LAUREN J. LIEBERMAN

INTRODUCTION A physically active lifestyle is an important component for health and well­ ness. Currently, physical inactivity has become a global issue causing in­ creased morbidity and even leading to premature mortality (Booth, Roberts, Thyfault, Ruegsegger, & Toedebusch, 2017). Motor competence is essential in growth, development, and leading a physically active lifestyle (Robinson et al., 2015). A variety of biological factors are important in developing mo­ tor competence, such as those expressed in CHARGE syndrome (CS), and can be promoted through environmental and task constraints (i.e., increased opportunities to play, educated parents and specialists, modified equipment, etc.; Barnett et al., 2016) as well as interactions between these constraints (Newell, 1986). Specifically, a child’s development is dependent on the de­ velopment of several systems, including visual, somatosensory, vestular, mus­ culoskeletal, neurological, and cardiorespiratory systems. In addition to mo­ tor competence, perceived motor competence has been established as an important predictor of physical activity levels (Babic et al., 2014). Children who perceive their motor abilities to be higher are more likely to be physi­ cally active than children who perceive their motor competence to be low 267

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and may even opt out of sports or physical activity opportunities (Stodden et al., 2008). Children with CHARGE have significant delays in acquiring their motor skills. These delays can be attributed to the complex and ongoing medical and health issues, physical impairments, and multiple sensory impairments, espe­ cially vision loss, lack of vestibular function, and low muscle tone (see Part I). Adolescents with CS are less physically active than their typically developing peers, placing them at an increased risk for poor bone health development (For­ ward, Cummings, & Blake, 2007). It is critical that youth with CS participate in weight-bearing activities to reach adequate peak bone mass due to their insuf­ ficient amounts of sex steroids. To be able to become motor competent, youth with CS must use what they have—some vision, hearing, proprioception, and lots of hard work. Despite experiencing these early delays, most are eventually able to walk, and many learn to run, ride bicycles, and swim. For these reasons, it is essential that children with CS develop motor skill competency. There are many strategies that parents, physical educators, and allied health professionals can employ to assist children with CS in their journey to greater motor skill competence. First and foremost, it is important to deter­ mine the child’s current level of motor competence, or what they are already able to do, and build on those skills. To do this, it is helpful for practitioners to become familiar with motor competence assessments and to receive ade­ quate training in order to evaluate the proper form for the motor skills most commonly used during physical activity. It is critical to provide children with CS opportunities to participate in a variety of physical activities. Understand­ ing the source of motor deficiencies can be used to design individualized interventions and training programs that integrate both balance and motor skill activities. These programs can be used in a variety of settings, including at home, in the community, and at school. Task and equipment modifica­ tions may be required to accommodate the unique sensory impairments of each child. Finally, it is vital that these children are provided with continu­ ous support and encouragement; the focus should always be on what they can do rather than what they cannot. This chapter reviews the features of CS that affect motor development, present results of a study of motor skill competence in children with CS, and provide information on approaches to improving motor competence in this population.

FACTORS THAT IMPEDE MOTOR DEVELOPMENT Infants with CS typically show significant delays in early motor milestones. This is due to (a) time spent in the hospital, being ill, or recovering from surgery or illness; (b) physical characteristics of CS such as hypotonia, facial palsy, limb abnormalities, and feeding and breathing issues; and (c) multiple sensory deficits, especially vision, hearing, and vestibular deficits (Hefner &

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Fassi, 2017). Early on, the emphasis for these children is staying alive. Of­ ten, the next priority is working to establish a communication system. Later motor milestones are especially affected by vestibular abnormalities (absent semicircular canals may be the most common feature of CS, seen in >95% of cases), truncal hypotonia and lax joints, and vision defects. It is critical to understand that without an intact vestibular system, other systems (e.g., proprioception, see Chapters 5 and 7) must be utilized for motor skills. Every­ thing takes much longer, but very often the skills can eventually be acquired. Assessment of Motor Competence There are two major types of measures that are used to assess motor skill competence. The first type includes product measures that focus on the movement outcome: time, distance, and frequency. The most significant drawback of these measures is that they do not give any insight into how the outcome was accomplished. For example, knowing the time it took someone to complete a swim does not provide any indication if the individual was using proper form. The second type, process measures, focuses on how the movement was performed: the form of a motor skill, perhaps with the skill broken down into components. A major drawback of process measures is that they are more open to subjectivity and observer error. For process mea­ sures, observers should be highly trained on the assessment. One of the most commonly used process measures for assessing motor competence in children ages 3 years to 10 years, 11 months is the Test of Gross Motor Development 3 (TGMD-3) (Ulrich, 2019). The TGMD-3 was originally designed to assess motor skills in physical education settings and currently consists of 13 skills divided into two subtests: 1) locomotor skills (e.g., running, jumping) and 2) ball skills (e.g., throwing, catching, striking). The TGMD-3 has been shown to be reliable and valid in children who are typically developing (Webster & Ulrich, 2017) and visually impaired (Brian et al., 2018). The TGMD-3 is very useful for practitioners because it can pin­ point the specific errors within the skill performance, which can then inform targeted interventions to improve performance.

RESEARCH ON MOTOR COMPETENCE It is important to understand the areas where children with CS are delayed and how to enable the development of more effective curricula that can be used at home by parents and family members; at schools by adapted physical education teachers, paraprofessionals, and vision teachers; and by therapists (e.g., occupational and physical therapists). Balance problems are often found in children with CS due to their limited sensory information. In one balance

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study on CS, most of the children with CS tested with the Pediatric Balance Scale were found to be at a moderate to high fall risk in comparison to ageand gender-matched controls (Haibach & Lieberman, 2013). These scores were also associated with the children’s confidence in their balance as assessed by the Activities Specific Confidence Scale. Low confidence is det­ rimental to balance because it often leads to a reduction of physical activity participation in an effort to reduce the potential risk of falling. This, in turn, can cause further delays in balance and motor competence. A more com­ prehensive study on balance in youth with CS used the mini Bestest, which examines four categories of balance. In comparison to controls, children with CS were delayed in all categories (Haibach-Beach, Perreault, Lieberman, & Foster, 2020). Being able to rise to toes and stand on one foot, assessments for anticipatory control, were especially challenging for children with CS. Anticipatory control, which enables preparation for movements in order to minimize potential loss of balance, was most delayed in children with CS. The children with CS in this study were also assessed on their motor competence, levels of physical activity participation, and age of walking. The average age of walking was 3.8 years, which is consistent with previous reports (Størvold, Aarethun, & Bratberg, 2013). Age of independent walking was nega­ tively associated with all of the balance categories (Haibach-Beach et al., 2020). These results indicate a strong relationship between age of walking and balance. Age of walking in CS has also been found to correlate with other abilities and conditions (see Chapter 23). A related study (Perreault, Haibach-Beach, Foster, & Lieberman, 2020) looked at the relationships between level of physical activ­ ity, balance, and motor skill performance. This study showed strong correla­ tions of balance measures with all motor skills assessed except for the jump. Perhaps even more interesting was the finding that physical activity levels had a significant positive relationship with only one of the five assessed motor skills: running. Those children who reported running less had overall lower levels of physical activity. This is consistent with studies on typically developing children, which have shown an association between a child’s confidence in running with their general physical activity levels (Hughes, Phillips, & Boyle, 2009). Early motor delays are associated with poorer motor competence in child­ hood. In a recent study, 31 children with CS who were able to walk indepen­ dently (mean age of 9.6 years) were assessed and compared to 28 typically developing peers in five fundamental motor skills—running, sliding, jumping, throwing, and kicking—with multiple components evaluated for each skill (Haibach-Beach, Perreault, Lieberman, & Foster, 2019). Modifications, includ­ ing a sound source for running and sliding, a beeping ball for kicking, and fluorescent floor tape, were included to provide additional sensory support. Results revealed the expected motor skill deficits in children with CS in com­ parison to typical peers, including deficits in the coordination components for each motor skill. For the skill of running, the children with CS struggled most with appropriate foot placement and knee flexion for the trail leg. For throw­ ing, the children with CS had difficulty with all components (windup, hip and

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shoulder rotation, weight transfer, and follow through). Children with CS also had great difficulty with arm position during a jump and foot position with kicking. Perhaps unsurprisingly, they did best with the sliding skill, during which they were to keep both feet on the floor. Practical Activities to Increase Motor Competence What follows are practices that can be considered for therapy and adapted phys­ ical education for use with children with CS. Independent mobility, which is often first managed using walkers and other equipment, should be a priority for these children. Assessing where the child is on the motor skills spectrum (by using a tool such as the TGMD-3) and building on strengths (especially those that will eventually lead to walking) is also an appropriate goal. It is important to begin every motor program with weight-bearing activities and opportunities to improve balance and movement. Keep in mind that children with CS may need frequent breaks or opportunities to lie on the ground to “reorient” them­ selves (see Chapter 7) and may fatigue quickly. Balance Skills Balance is a complicated system that, in typically developing children, is ac­ complished with information from vision, the vestibular system, propriocep­ tion, and brain function (see Chapters 5 and 7). Nearly all children with CS have a severely compromised or absent vestibular system. A majority have impaired vision, and most have some degree of hypotonia and/or joint laxity that changes proprioception. As a result, individuals with CS must learn to sit, stand, walk, and run without a complete set of tools. Amazingly, most are able to accomplish this. Balance-oriented protocols can be extremely helpful, as long as the teacher/therapist is aware that it may take a long time. Basic static balance can be performed standing upright on both feet (double-leg stance), with or without additional support. Wider stances can be used to provide more support. Additional support can come from a chair, a counter or desk, a walker, or physical assistance from a parent, sibling, or caregiver. Gradually decreasing the amount of support can increase independence. Ensuring activi­ ties are fun and positive will increase time on task and motivation of the child. Providing tactile toys and a child’s preferred manipulatives (e.g., scarves, beach balls, cars, trains, etc.) while they engage in balancing can help increase moti­ vation and prolong interest in the activity. If a child has difficulty manipulating objects while standing, stacking blocks or a switch that can initiate or interact with objects can offer incentive. Batting at a beach ball or balloon or reaching for bubbles while balancing may increase visual tracking and attention. Once the child is stable on two legs, it may be possible to progress to a single-leg stance. The child could be asked to grab items (e.g., scarves, yarn balls, Koosh balls, Mardi Gras beads) or toss objects at targets or in buckets.

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Providing appropriate visual information for the child, such as tossing a bright-colored ball with bells, can further challenge their visual system and support vestibular and somatosensory balance control. These balance exer­ cises should be done on firm stable surfaces, such as concrete or wooden floors. Once the child becomes more stable, they can attempt the same activi­ ties on softer or less stable surfaces, such as grass, sand, dirt, towels, or mats. Introducing a stability ball for a variety of body positions (sitting on or lying on the ball face-down or face-up) can provide feedback that strengthens balance. Once a child becomes comfortable with the stability ball in one posi­ tion, introduce objects to manipulate while balancing on the ball to increase concentration, attention, and motivation. Using balance equipment such as stepping stones, balance beams, and different tactile surfaces (e.g., polyfoam mats) can improve an individual’s balance. Walking on uneven surfaces (e.g., carpet squares, Frisbee, mats, pil­ lows, balance boards, or balance discs) is also helpful. The surfaces can be spread apart to construct a maze to navigate through. Because of the lack of vestibular input, children with CS rely on visual cues to know where they are in space and balance. This explains why many will do quite well indoors (where walls, ceilings, and doorways provide ori­ enting cues) and still have difficulty outdoors (where those cues are suddenly gone). Thus, it is important to work on maintaining stability in motor activi­ ties outdoors as well as indoors. As children with CS gain balance skills and confidence, it is important to gradually fade the type and amount of support during balance activities while maintaining safety and success. As balance ability increases, additional activities, such as catching and throwing or popping bubbles, can increase attention and motivation to continue to balance. Stair stepping exercises and jumping activities may also help with balance, stability, and trunk control. More challenging balance activities, such as horizontal and vertical jumps, tandem stance (i.e., heel to toe), walking on a line, walking on a balance beam, and jumping on a trampoline, have been reported to increase strength and bal­ ance in children with other disabilities (Gupta, Rao, & Kumaran, 2011) but may or may not be appropriate for children lacking a vestibular system. A balance video on the Camp Abilities website (https://www.campabilities.org /instructional-materials.html) can provide additional ideas to integrate into a balance training program. Balance skills and activities can be implemented in the classroom as a movement break, at home, and consistently during physical education. It is imperative that a child not be excluded from physical education to work on balance skills, as it should be embedded into the existing program. Locomotor and Object Control Skills The second practical implication is the need for children with CS to work on locomotor skills and object control skills at home and in school. The first

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step is to train support staff, caregivers, teachers, and parents on the form of a throw, roll, kick, slide, run, and jump (Lieberman, Ponchillia, & Ponchillia, 2013). These are critical skills that are used in many sports and recreational activities and can be infused into any backyard game, sport, recreation activ­ ity, recess activity, or physical education class (Lieberman & Haibach, 2016). The use of modifications such as bright-colored balls, beeping balls, and bright tape can help children to perform certain motor skills within the lim­ its of their disability. Teachers, parents, and physical education or adapted physical education specialists should make every effort to universally design lessons to ensure a multisensory environment for classes with children with CS. Pre-teaching of the upcoming unit should be conducted at least 1 week before the unit begins, with all relevant information taught in clear words, signs, and tactile instruction (Lieberman, Lepore, Lepore-Stevens, & Ball, 2019; Lieberman et al., 2013). The use of tactile teaching, multiple demon­ strations, and repetition can be extremely helpful (Lieberman & Haibach, 2016). In addition, it is imperative to use the mode of communication that the individual with CS prefers in order to ensure that they understand what is going on in the class (Lane, Lieberman, Haibach-Beach, Perreault, &

Resources Modified equipment for activities with children with vision loss is available through a number of resources: n Beepers and sound devices (to run toward) (https://www

.aph.org) n Guidewires (to run or perform locomotor skills along)

(APH; https://www.aph.org/pe/products) n Beeping balls (also available through APH) n Bright lines or poly spots on the floor for jumping n Bell whiffle balls, yarn balls, or bean bags for throwing n Gross Motor Development video is available through APH

(https://www.aph.org/physical-education/motor-video-feed back/) and Camp Abilities (http://www.campabilities.org/in struc­tional-materials.html) n Gross Motor Development Curriculum available as a free

download from APH (https://www.aph.org/manuals) under Gross Motor Development Curriculum

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Columna, 2020; Lieberman, Haibach, & Schedlin, 2012). With a proactive approach to movement, children with CS can have active and healthy lives to the maximum extent possible.

CONCLUSION Developing motor skills is an important aspect of maintaining an active life­ style, leading to increased quality of life and better overall health. Early in­ terventions and appropriate services are often necessary and critical to help children with CS develop and progress their motor skills (Lieberman et al., 2012). Unfortunately, many adapted physical education teachers do not know how to develop appropriate programs for children with CS (Lane et al., 2020; Lieberman & MacVicar, 2003; Lieberman et al., 2013). A child’s Individualized Education Program must address the multiple challenges that children with CS face, including communication alternatives, equipment, and task modifications designed for their unique needs. With appropriate instruction and opportuni­ ties, children with CS can improve their motor skills, which will increase their opportunities for socialization as well as for a happier and healthier life.

REFERENCES Babic, M. J., Morgan, P. J., Plotnikoff, R. C., Lonsdale, C., White, R. L., & Lubans, D. R. (2014). Physical activity and physical self-concept in youth: Systematic review and meta-analysis. Sports Medicine, 44(11), 1589–1601. Barnett, L. M., Lai, S. K., Veldman, S. L. C., Hardy, L. L., Cliff, D. P., Morgan, P. J., . . . Okely, A. D. (2016). Correlates of gross motor competence in children and adoles­ cents: A systematic review and meta-analysis. Sports Medicine, 46(11), 1663–1688. Booth, F. W., Roberts, C. K., Thyfault, J. P., Ruegsegger, G. N., & Toedebusch, R. G. (2017). Role of inactivity in chronic diseases: Evolutionary insight and pathophysi­ ological mechanisms. Physiological Reviews, 97(4), 1351–1402. Brian, A., Taunton, S., Lieberman, L. J., Haibach-Beach, P., Foley, J., & Santarossa, S. (2018). Psychometric properties of the Test of Gross Motor Development-3 for chil­ dren with visual impairments. Adapted Physical Activity Quarterly, 35(2), 145–158. Forward, K., Cummings, E. A., & Blake, K. D. (2007). Risk factors for poor bone health in adolescents and adults with CHARGE syndrome. American Journal of Medical Genetics Part A, 143(8), 839–845. Gupta, S., Rao, B. K., & Kumaran, S. D. (2011). Effect of strength and balance train­ ing in children with Down’s syndrome: A randomized controlled trial. Clinical Rehabilitation, 25(5), 425–432. Haibach, P. S., & Lieberman, L. (2013). Balance and self-efficacy of balance in children with CHARGE syndrome. Journal of Visual Impairment and Blindness, 107(4), 297–309.

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20. Promoting Motor Development      275 Haibach-Beach, P. S., Perreault, M., Lieberman, L., & Foster, E. (2019). Gross motor skill performance in children with CHARGE syndrome: Research to practice. Research in Developmental Disabilities, 91, 1–7. Haibach-Beach, P., Perreault, M., Lieberman, L., & Foster, E. (2020). Independent walk­ ing and balance in children with CHARGE syndrome. British Journal of Visual Impairment, August 4, 2020. DOI: 10.1177/0264619620946068 Hefner, M. A., & Fassi, E. (2017). Genetic counseling in CHARGE syndrome: Diag­ nostic evaluation through follow up. American Journal of Medical Genetics C: Seminars in Medical Genetics, 175(4), 407–416. Hughes, D., Phillips, K. D., & Boyle, M. (2009). Best practices for physical activity: A guide to help children grow up healthy. Newark, DE: Nemours Health and Pre­ vention Services. Lane, K., Lieberman, L. J., Haibach-Beach, P., Perreault, M., & Columna, L. (2020). Parental perspectives on physical education services for children with CHARGE syndrome. The Journal of Special Education. July 24, 2020. 1-11 DOI: 10.1177 /0022466920942769 Lieberman, L. J., & Haibach, P. (2016). Gross motor development for children with visual impairments. Louisville, KY: American Printing House for the Blind. Lieberman, L. J., Haibach, P., & Schedlin, H. (2012). Physical education and children with CHARGE syndrome: Research to practice. Journal of Visual Impairment and Blindness, 106(2), 106–119. Lieberman, L. J., Lepore, M., Lepore-Stevens, M., & Ball, L. (2019). Physical education for children with visual impairments. Journal of Physical Education, Recreation, and Dance, 91, 30–38. Lieberman, L. J., & MacVicar, J. (2003). Play and recreational habits of youths who are deaf-blind. Journal of Visual Impairment and Blindness, 97(12), 755–768. Lieberman, L. J., Ponchillia, P. E., & Ponchillia, S. K. V. (2013). Physical education and sports for people with visual impairments and deafblindness: Foundations of instruction. Louisville, KY: American Federation for the Blind. Newell, K. M. (1986). Constraints on the development of coordination. In M. G. Wade & H. T. A. Whiting (Eds.), Motor development in children: Aspects of coor­­ dination and control (pp. 341–360). Dordrecht, The Netherlands: Martinus Nijhoff. Perreault, M., Haibach-Beach, P., Foster, E., & Lieberman, L. (2020). Relationship between motor skills, balance, and physical activity in children with CHARGE syn­ drome. Journal of Visual Impairment & Blindness. August 11, 2020. doi.org /10.1177/0145482X20939469 Robinson, L. E., Stodden, D. F., Barnett, L. M., Lopez, V. P., Logan, S. W., Rodriguez, L. P., & D’Hondt, E. (2015). Motor competence and its effect on positive develop­ mental trajectories of health. Sports Medicine, 45(9), 1273–1284. Stodden, D. F., Goodway, J. D., Langendorfer, S. J., Roberton, M. A., Rudisill, M. E., Gar­ cia, C., & Garcia, L. E. (2008). A developmental perspective on the role of motor skill competence in physical activity: An emergent relationship. Quest, 60(2), 290–306. Størvold, G. V., Aarethun, K., & Bratberg, G. H. (2013). Age of onset of walking and prewalking strategies. Early Human Development, 89(9), 655–659. Ulrich, D. A. (2019). Test of gross motor development (3rd ed.). Austin, TX: Pro-Ed. Webster, E. K., & Ulrich, D. A. (2017). Evaluation of the psychometric properties of the Test of Gross Motor Development—third edition. Journal of Motor Learning and Development, 5(1), 45–58.

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CHAPTER 21

Toileting LAURIE S. DENNO

INTRODUCTION Toilet training is a rite of passage for many children, families, and educational staff. It is a milestone in development and independence. While toilet train­ ing may be somewhat delayed in children with CHARGE syndrome (CS) due to physical, sensory, and communication issues, it remains an important step for all youngsters. Bowel and bladder control is influenced by physiological factors that include a complex set of muscles that must be sufficiently developed to en­ sure holding and releasing of urine and stool. In addition, toilet training is influenced by culture and social customs. Toilet training in the United States is usually initiated at 24 to 30 months. There are two main approaches to toilet training: the “wait until the child is ready” approach advocated by Brazelton (1962) and the “rapid training” approach advocated by Azrin and Foxx (1974). The Brazelton approach is considered “child oriented.” Child readiness includes such things as physiological maturity, the ability to understand and follow directions, and internal motivation and interest in what happens in the bathroom and on the toilet. Behavioral signs of readiness include using words, facial expressions, or physical movements to indicate eliminating in the diaper, asking to change a wet or dirty diaper, coming into the bathroom with a family member, showing interest in a potty chair placed in the bath­ room, and wanting to do things independently. 277

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The Azrin and Foxx approach is considered more “adult directed.” It relies heavily on specific skills and abilities in the child as prerequisites to toi­ let training. These skills are observable behaviors and include the following: the child should be 24 to 27 months old (with developmental delay, perhaps 30 months), have periods of dryness of from 1 to 2 hours, get up from a nap dry (optional), be able to sit for 5 minutes, follow one-step directions, have vocabulary (words, signs, pictures) for “pee” and “poop,” and enjoy praise and positive feedback or have other reinforcers (toys, activities, snacks, stickers). Both approaches work with typically developing children. The Azrin and Foxx approach may result in faster training with fewer accidents. Although it has not been studied in children with CHARGE, this approach has been extensively researched and used with developmentally delayed children and adults (Azrin & Besalel, 1979; Azrin & Foxx, 1971, 1974; Didden, Sikkema, Bosman, Duker, & Curfs, 2001; Foxx & Azrin, 1973; Luiselli, Reisman, Helfen, & Pemberton, 1979; Sadler & Merkert, 1977; Williams & Sloop, 1978). The Azrin and Foxx procedure may be more successful for children with CS and their parents because it is more specific and more structured. A multidisci­ plinary team approach to toilet training also is advised. For more extensive reviews summarizing toilet training research, see Berk and Friman (1990) or Klassen et al. (2006). Another good resource on toilet training is Batts (2010). These articles discuss the typical age of toileting training and the physiologi­ cal aspects of toilet training, and the last book is a handy guide for children and parents about to begin the toilet training process. Toilet training should be about success, learning, and increasing inde­ pendence. It should never be forced or coercive or involve threats, punish­ ment, or reprimands. These things lead to resistance, crying, tantrums, and other behaviors that are best avoided. This author has used a modified Azrin and Foxx procedure with several youngsters with CHARGE with good success. One young woman (18 years old), who was 100% g-tube fed and had never been continent, despite years of schedule training, went from eliminating in the toilet 10% of the time to eliminating in the toilet about 95% of the time after a few days of intensive training and 3 months of a combination of schedule training, verbal remind­ ers, and reinforcement for successful elimination. While toileting is a central concern for many parents of children with CHARGE, there has been little research on this. Blake, Salem-Hartshorne, Daoud, and Gradstein (2005) reported on 30 individuals with CS aged 13 to 30 years. Based on interview questions, 10 of these individuals had no inde­ pendent toileting skills, 4 had some, 2 were mostly independent, and 14 were completely independent. At what age are children with CHARGE typically toilet trained? The CHARGE Syndrome Clinical Database Project (Hefner, 2019) collected infor­ mation from parents on age of toilet training. Of those who reported being toilet trained, the range for urine (n = 55) was from 20 months to 10+ years.

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The average age reported was 56 months, with 75% successful by 72 months (6 years old). For bowels (n = 47), the average and range were similar but with a wider spread and 75% successful by 78 months (6 ½ years). Toileting is clearly a problem not only for the individual with CHARGE but also for parents, teachers, and caregivers. Because toilet training is often delayed in children with CS, it is important for everyone working with the child to be aware of the status of toilet training. Coordination is required to be certain that similar procedures are followed in the home, the classroom setting, and with therapists.

TOILET TRAINING SKILLS AND SENSORY IMPAIRMENTS For toilet training to be accomplished, the child must be able to perform a number of tasks: recognize physical sensations that indicate the need to elimi­ nate, walk to the bathroom, pull down pants and underpants, sit on the toilet, eliminate in the toilet, use toilet paper, put toilet paper in the toilet, stand up, pull up underpants and pants, flush the toilet, wash hands, dry hands, and exit bathroom. Physical, sensory, and developmental limitations of children with CS can make completion of these tasks difficult. Many children will be able to perform some, but not all, of these tasks independently. See Figure 21–1 for how these tasks fit into the training described.

Figure 21–1.  Toilet training flowchart.

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Toilet training is a highly social activity. Children who have limited social skills (see Chapter 19) due to sensory impairments, communication issues, or health concerns (lengthy hospitalizations), as is the case with many children with CHARGE, may be less motivated by the usual social aspects of toilet training. Some children with CS may have limited control due to structural or functional abnormalities that impair function of the nerves and muscles that may be involved in both sensation (“need to go”) and allowing the release of urine and stool. Renal anomalies are found in about 30% of individuals with CS. Involvement of the cranial nerve or autonomic nervous system has been suspected but not systematically investigated. Structural and functional abnormalities should be investigated before toilet training begins (see Chap­ ter 13). Hearing loss (inability to hear urine stream) and lack of sense of smell (inability to smell urine or stool) further complicate the picture. Brief Outline of Recommended Procedures The recommended procedures are very prescribed but can be customized for the child’s unique needs. The procedures teach all of the previously noted toileting skills, in order, through practice, repetition, and reinforcement. The first step is to collect the equipment needed. If the child is young or small, use an on-the-floor potty chair with a bowl that can be emptied into the toilet. If the child is older or larger, find a toilet seat that will affix to the toilet. Use a regular toilet if it is a good fit. In all cases, the child’s feet should be firmly placed on the floor. A footstool can be used if necessary. If the child has poor balance, a seat belt and perhaps side support can be helpful. Purchase about 10 pairs of training pants or regular underpants. Once toilet training starts, the child will no longer wear diapers during the day. Record baseline data for 2 to 3 days. This is a record of when the child urinates and defecates in their diaper. This will help you select an appropri­ ate toileting schedule. If there is no pattern, schedule a trip to the toilet every 30 minutes. Tell the child about the new and exciting toilet training plan. Emphasize all of the positive outcomes including wearing underpants, earning rewards, being independent, and making family members proud. There are many books about toilet training that can be read with the child to further prepare. In addi­ tion, there are toilet training dolls (both male and female) that urinate in a small plastic potty. Playing with the child and these dolls also can be very help­ ful in explaining the procedure. Pick a week to start training. This should be during a relaxed time when no trips and no special events are planned. Toilet training will be your main focus for at least several days. Get all of the players on board. This includes school staff, family members, and caretakers. Everyone needs to consistently follow the same procedure for the best and fastest results. Begin by telling the child that today is the big day when toilet training will begin and to take off the diaper and put on underpants. Every 60 minutes,

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have the child drink 8 ounces of fluid. While this may seem counterintuitive, increasing the likelihood of accidents, it also will increase the likelihood of successes. In addition, salty foods can be added to increase thirst, drinking, and urination. If the child is g-tube fed, coordinate extra fluids with a pediatri­ cian or a nutritionist. According to the schedule, or every 30 minutes, take the child to the bathroom and have the child complete all of the steps from Figure 21–1, or assist the child in completing all of the steps using the least intrusive prompts required to complete each step. Have the child sit on the toilet for about 5 minutes (a timer or other visual reference may help). Use books, toys, or music to fill the time. If the child refuses to sit that long, praise the sitting that happened and let the child get up and leave. If the child consistently refuses to sit for 5 minutes, shorten the time, gradually increasing the time if sitting is successful. Never have the child sit longer than 10 minutes. Between bathroom visits, every 15 minutes, have the child touch their crotch area and report “wet” or “dry” pants. Using picture symbols to denote “wet” or “dry” also can be helpful. Enthusiastic praise should be delivered if dry, and the “accident procedure” should be implemented if wet. Remain neu­ tral during the accident procedure. Remember, scolding and reprimands have no place in toilet training. If the child has a success while sitting on the toilet, which may take many tries, offer enthusiastic praise, and a reinforcer—a special activity, a sticker, or a small highly preferred snack. The key to success in toilet training is imme­ diate reinforcement. Even if the child has wet pants when entering the bath­ room, if the child urinates in the toilet, this is a success and should receive reinforcement. Whether or not the child is successful on the toilet, have the child practice the entire routine every time. Use prompts as necessary. If the child is resistant to any of the steps, let it go. The response is, “OK, you can try again later.” When the child has an accident, state the facts (Figure 21–2). “You are wet. Let’s go to the bathroom.” The child will follow the entire bathroom routine, except the child will place the wet or soiled clothes in a designated location (e.g., plastic hamper). Only require the child to sit for 1 to 3 minutes, since the child already has urinated or defecated and probably does not have to go again. If the child asks to go to the bathroom or shows you a behavioral cue that they are about to urinate or defecate, take them immediately. Record all successes and accidents on the data sheet. Eventually, the successes will increase, and the accidents will decrease. Keeping data will help everyone see that there is progress and assist in evaluating progress. When the child is dry during most toilet training intervals, gradually in­ crease the time between trips to the bathroom. Continue with praise and other reinforcement for successes. The child may continue to have occasional accidents, especially in a strange place, in circumstances of big change, or when ill. Treat the accidents like the ones during the toilet training interval. See Figures 21–1 and 21–2 for flowcharts of the training procedure and the accident procedure. Some parents and educators put the charts in a page

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Figure 21–2.  Procedure for an accident.

protector and post them in the bathroom or kitchen as a reminder of what to do and when to do it. If the child is very resistant, crying, whining, having tantrums, and so on, stop training immediately. Wait a month or two and try again. If it happens again, one can try compliance training. That is, ask the child to do simple activities or tasks around the house and then praise and reinforce following the directions. These activities do not have to be related to toilet training. If resistance to toilet training continues, it is recommended that you get profes­ sional help. Contact a behavior analyst to assist. This can be especially helpful if the child is resistant to training or having accidents on purpose. You can find a behavior analyst in your area (including Canada) by going to https:// www.bacb.com and searching by zip code.

CONCLUSION Toilet training is a complex and time intensive enterprise. When toilet training children with CHARGE, one must consider hearing, vision, balance, physical development, and physiologic anomalies. Each child with CHARGE is unique.

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Toilet training is likely to happen at an older age and take longer to complete than with typical children. However, first and foremost, toilet training is a teaching opportunity.

REFERENCES Azrin, N. H., & Besalel, V. A. (1979). A parent’s guide to bedwetting control: A stepby-step method. New York, NY: Simon & Schuster. Azrin, N. H., & Foxx, R. M. (1971). A rapid method of toilet training the institutional­ ized retarded. Journal of Applied Behavior Analysis, 4(2), 89–99. Azrin, N. H., & Foxx, R. M. (1974). Toilet training in less than a day. New York, NY: Simon & Schuster. Batts, B. (2010). Ready, set, potty!: Toilet training for children with autism and other developmental disorders. London, UK: Jessica Kingsley Publishers. Berk, L. B., & Friman, P. C. (1990). Epidemiologic aspects of toilet training. Clinical Pediatrics, 29(5), 278–282. Blake, K. D., Salem-Hartshorne, N., Daoud, M. A., & Gradstein, J. (2005). Adolescent and adult issues in CHARGE syndrome. Clinical Pediatrics, 44(2), 151–159. Brazelton, T. B. (1962). A child-oriented approach to toilet training. Pediatrics, 29, 121–129. Didden, R., Sikkema, S. P., Bosman, I. T., Duker, P. C., & Curfs, L. M. (2001). Use of a modified Azrin–Foxx toilet training procedure with individuals with Angelman syndrome. Journal of Applied Research in Intellectual Disabilities, 14(1), 64–70. Foxx, R. M., & Azrin, N. H. (1973). Toilet training the retarded: A rapid program for day and nighttime independent toileting. Champaign, IL: Research Press. Hefner, M. A. (2019). CHARGE Syndrome Clinical Database Project. St. Louis, MO: Saint Louis University. Klassen, T. P., Kiddoo, D., Lang, M. E., Friesen, C., Russell, K., Spooner, C., & Vander­ meer, B. (2006). The effectiveness of different methods of toilet training for bowel and bladder control. Evidence Report/Technology Assessment (Full Report), 147, 1–57. Luiselli, J. K., Reisman, J., Helfen, C. S., & Pemberton, B. W. (1979). Toilet training in the classroom: An adaptation of Azrin and Foxx’s rapid toilet training procedures. Behavioral Engineering, 5, 89–93. Sadler, O. W., & Merkert, F. (1977). Evaluating the Foxx and Azrin toilet training procedure for retarded children in a day training center. Behavior Therapy, 8, 499–500. Williams, F. E., & Sloop, E. W. (1978). Success with a shortened Foxx-Azrin toi­ let training program. Education and Training of the Mentally Retarded, 13, 399–402.

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CHAPTER 22

Sleep BENJAMIN KENNERT and DOMINIQUE PANCOTTO

INTRODUCTION Most of us spend one-third of our lives sleeping or engaging in sleep-related behaviors, and without sleep, we cannot function as well during the rest of our day. Sleep problems are related to many negative outcomes, including poorer physical health, mental health, concentration, motivation, memory, and level of achievement (National Sleep Foundation, 2015; Steenari et al., 2003). Caregiver mental health is also affected by sleep problems, with higher rates of parental stress, depression, family discord, child abuse, and child behavioral problems associated with poor sleep (Hiscock & Wake, 2002). When left untreated, or not effectively treated, it is clear that sleep problems result in a reduced overall quality of life. It is well-documented that sleep problems are common in individuals with developmental disabilities (Couturier et al., 2005; Polimeni, Richdale, & Francis, 2005), visual impairments (Stores & Ramchandani, 1999), hearing impairments (Khan et al., 2011), and intellectual impairments (Richdale, Francis, Gavidia-Payne, & Cotton, 2000). As individuals with CHARGE syndrome (CS) often have one—or more often, a combination—of these features, it stands to reason that sleep problems are prevalent among this population. Indeed, sleep problems have been estimated to be present in as many as 60% of children with CS (Hartshorne et al., 2009), with the most common problems being sleep initiation and sleep maintenance, followed by sleepbreathing (e.g., obstructive sleep apnea) issues. These sleep complications 285

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are likely to go without effective treatment into adolescence and adulthood, as indicated by a continued prevalence (50%) of sleep problems into adulthood for individuals with CS (Blake, Salem-Hartshorne, Abi Daoud, & Gradstein, 2005).

PREDISPOSITIONS TO SLEEP PROBLEMS IN INDIVIDUALS WITH CHARGE People with CHARGE may be predisposed to sleep problems for a number of reasons. Craniofacial abnormalities are present from birth for a majority of individuals with CS. Choanal atresia and/or stenosis, cleft lip or palate, large tonsils and adenoids, and ear and sinus infections are all very common in this population (see Chapter 8). These characteristics are associated with airway difficulties and sleep-breathing problems, including obstructive sleep apnea (Trider et al., 2012). These physical difficulties are likely to negatively influence the consistency of sleep, resulting in dysregulated circadian rhythms (i.e., the body’s natural sleep/wake cycle). As a result, sleep itself, and behaviors compatible with good sleep, are likely to be inconsistent and impaired. Circadian rhythm dysregulation may also result from visual impairments, behavioral traits, impulsivity and poor self-regulation, pain, comorbid anxiety, and other medical treatments and medications, all of which are common in this population. For example, lying down in bed “signals” it is time to sleep for typical children. Prolonged medical issues and inconsistency in the sleep cycle may contribute to individuals with CS learning to associate lying in bed with other things, and so the strength with which the sleep environment (e.g., bedroom) serves as a “signal” prompting sleep (called “stimulus control”) weakens. Visual Impairments Visual impairments may affect the individual’s natural production of melatonin, a hormone produced in varying amounts depending on intake of light through the individual’s eyes. It has been proposed that visual impairments weaken the distinctions between the light and dark in the daily cycle, and that this contributes to sleep problems (Palm, Blennow, & Wetterberg, 1997). Melatonin signals the body when to feel tired. As melatonin production is suppressed when light enters the eye, reduced light input in individuals with visual impairments may weaken the feeling of tiredness at appropriate times. Behavior Problems Behavior problems have been demonstrated to be related to sleep problems (e.g., Goodlin-Jones, Tang, Liu, & Anders, 2009). Research on the behaviors

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of individuals with CHARGE indicate a common behavioral phenotype that includes low normal cognitive functioning, difficulty self-regulating behaviors, and difficulty shifting attention (Hartshorne, Stratton, Brown, MadhavanBrown, & Schmittel, 2017; see Chapter 27). Individuals with CS often exhibit problematic behaviors, including aggression, throwing objects, undressing, fecal smearing, self-injury, general resistance, repetitive vocalizations, agitation, and pacing. Among other things, any of these behaviors are likely to interfere with the initiation and maintenance of sleep and sleep-compatible routines. It has been suggested that sleep problems contribute to the problematic behaviors observed in individuals with CS (Hartshorne et al., 2009), and this relationship appears to be bidirectional. That is, a cycle of behavioral problems leading to poorer sleep, which feeds back to further problematic behavior, is created. Minde et al. (1993) indicated that strong sleepers and poor sleepers awaken during the night at the same frequency, but the strong sleepers were better able to soothe themselves back to sleep upon awakening. It may be that individuals with CS, due to impaired self-regulation skills (Hartshorne et al., 2017) and weakened sleep cues, have difficulty with this self-soothing process. Chronic Pain Pain has also been linked to sleep problems (Breau & Camfield, 2011; Chapter 29), and individuals with CHARGE experience a great deal of pain, both in frequency and intensity (Stratton & Hartshorne, 2019). Pain experiences for individuals with CS may include constipation, migraines, reflux, postsurgery pain, medical procedures, and pain related to breathing and sinus problems (Stratton & Hartshorne, 2019). Many of these pain experiences are ongoing (chronic) or recur frequently. At the least, this pain is likely to make sleeping more difficult. Chronic pain results in lower sleep quality, higher prevalence of sleep problems, greater sleep debt, and about 30 minutes less sleep per night (National Sleep Foundation, 2015). Other environmental factors, such as temperature, noise, light, and stimuli in the bedroom environment, are more likely to disturb the sleep of someone with chronic pain (National Sleep Foundation, 2015). This may be related to the paired negative associations with sleep cues mentioned earlier, resulting in impaired stimulus control around sleep: the aversive pain stimuli become associated with cues in the sleep environment and result in wakefulness. Individuals may find they cannot easily sleep in this environment due to its association with pain. Anxiety Anxiety has been described as a significant and frequent problem for individuals with CHARGE (Hartshorne et al., 2017). Anxiety can be described as excessive worry that is difficult to control. Difficulties with falling asleep or staying

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asleep are considered symptoms of anxiety in the Diagnostic and Statistical Manual of Mental Disorders, Fifth edition (American Psychiatric Association, 2013). The high correlation between anxiety and CS was confirmed by Wachtel, Hartshorne, and Dailor (2007), who identified anxiety as the most diagnosed comorbid mental health condition for individuals with CS. Anxiety has a demonstrated link to sleep problems, with a higher degree of anxiety associated with more significant sleep problems (Alfano et al., 2007). According to Alfano, Ginsburg, and Kingery (2007), as many as 88% of individuals with identified anxiety disorders have comorbid sleep problems. The negative experiences around anxiety lead to agitation and arousal in the sleep environment, and these stimuli become associated with cues in the sleep environment, further weakening stimulus control and dysregulating circadian rhythms. Medical Treatments Due to the multiple sensory and medical issues in individuals with CHARGE, this group is exposed to a multitude of surgeries, medical interventions, and medications. These may include surgeries to correct airway blockages or problems with the larynx or trachea (Trider et al., 2012). These experiences are likely to contribute to dysregulated sleep from an early age, both via direct disturbances of the airway and impaired stimulus control in the sleep environment. When the internal cues around falling asleep are unpleasant, such cues become paired with the external cues in the sleep environment, such as the bed and the bedroom, and signal further sleep disruptions and elevated arousal in the sleep environment (Bootzin & Perlis, 2011). The use of psychotropic medications for behavior and comorbid psychiatric pathology is elevated in this group. Wachtel and colleagues (2007) reported that almost half of individuals with CHARGE were taking psychotropic medications. Of those taking psychotropic medications, a majority were, in fact, taking more than one. Side effects of these medications can contribute to sleep problems or exacerbate sleep problems that are already present, and they are known to be related to nighttime awakenings (Durand, 1998).

TREATMENT OF SLEEP PROBLEMS As individuals with CHARGE are likely to demonstrate a combination of problems related to the medical and behavioral difficulties described here, we propose that treatment of sleep problems must be multifaceted and include investigation into medical concerns, potential pain experiences, and stimulus control around sleep, daytime behavior, and anxiety. Sleep hygiene practices are those environmental factors that set the stage for appropriate sleep. These may include keeping the room dark, reducing noise levels, and regulating temperature ( Yang, Lin, Hsu, & Cheng, 2010). They

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may also include pre-sleep activities that promote effective sleep, such as avoiding caffeine, rigorous exercise, and eating close to bedtime, or the elimination of daytime napping. Sleep hygiene is considered important across populations for good sleep and is often recommended to be considered prior to additional interventions around sleep ( Weiss, Wasdell, Bomben, Rea, & Freeman, 2006). Setting consistent bedtimes and waking times and scheduling consistent positive bedtime routines (i.e., a series of three to five calm, quiet activities before bedtime in a planned sequence) are also likely to improve nighttime sleep and even reduce behavior problems around sleep (Adams & Rickert, 1989; Milan, Mitchell, Berger, & Pierson, 1982). Some evidence has suggested that the use of positive bedtime routines, in combination with scheduled bedtime and awakening times, may be a valid treatment for sleep problems among individuals with CHARGE, and for some individuals may be more effective when later combined with taking melatonin (Kennert, 2018). Part of good sleep hygiene is stimulus control. As described, many of the features of individuals with CHARGE result in weakened cues around sleep (i.e., stimulus control) that contribute to sleep problems. Stimulus control therapy has been demonstrated to be an effective treatment for sleep initiation and maintenance problems, especially when those problems involve sleep onset difficulties (i.e., falling asleep or returning to sleep upon awakening; Bootzin & Perlis, 2011). Stimulus control therapy, while it has not been researched specific to individuals with CS, aims to strengthen bedtime cues for sleep while weakening those same stimuli as cues for arousal. See Box 22–1 to learn how to implement stimulus control therapy.

Box 22–1  Implementing Stimulus Control Therapy Stimulus control therapy involves the following steps (Bootzin & Perlis, 2011): 1. Lie down in bed only when sleepy 2. Do not use the bed for anything except sleep 3. If unable to fall asleep, get up and go to another room until sleepy and repeat as often as necessary 4. Wake up at the same time each morning regardless of how much sleep is attained the previous night 5. Avoid daytime napping 6. Within this process, training additional cues for sleep may also be helpful, including security objects (e.g., stuffed animal, blanket), as recommended previously by Heussler (2011)

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In addition to sleep hygiene recommendations, some medical interventions and treatments have been shown to be effective in treating sleepbreathing problems for some individuals with CS. These include use of continuous positive airway pressure (CPAP), tracheostomy, tonsillectomy, and adenoidectomy (Trider et al., 2012). Further research into sleep problems for individuals with CHARGE is needed for clarification and management of these problems. While medical treatments have been shown to be effective in reducing sleep-breathing problems in this population, it has been suggested that these treatments are often not sufficient, and additional behavioral intervention may be required (Trider et al., 2012). Behavioral treatments for sleep problems have demonstrated efficacy with a variety of populations, but little research on these types of interventions for individuals with CS specifically exists. Such research is important in order to validate the use of treatments within this population.

CONCLUSION Individuals with CS are likely to experience medical problems, pain, behavioral problems, anxiety, and self-regulation difficulties around sleep. We do not know the extent to which each of these issues contributes to the sleep problems experienced by this group. Additionally, if these concerns receive daytime treatment (e.g., management of pain, behavior, and anxiety), it would be useful to know how much that treatment impacts nighttime sleep in this population.

REFERENCES Adams, L. A., & Rickert, V. I. (1989). Reducing bedtime tantrums: Comparison between positive bedtime routines and graduated extinction. Pediatrics, 84(5), 756–781. Alfano, C. A., Ginsburg, G. S., & Kingery, J. N. (2007). Sleep-related problems among children and adolescents with anxiety disorders. Journal of the American Acad­ emy of Child and Adolescent Psychiatry, 46(2), 224–232. American Psychiatric Association. (2013). Diagnostic and statistical manual of men­ tal disorders (5th ed.). Arlington, VA: American Psychiatric Publishing. Blake, K. D., Salem-Hartshorne, N., Abi Daoud, M., & Gradstein, J. (2005). Adolescent and adult issues in CHARGE syndrome. Clinical Pediatrics, 44(2), 151–159. Bootzin, R. R., & Perlis, M. L. (2011). Stimulus control therapy. In M. L. Perlis, M. Aloia, & B. Kuhn (Eds.), Behavioral treatments for sleep disorders: A compre­ hensive primer of behavioral sleep medicine interventions (pp. 21–30). Amsterdam, the Netherlands: Elsevier Inc. Breau, L. M., & Camfield, C. S. (2011). Pain disrupts sleep in children and youth with intellectual and developmental disabilities. Research in Developmental Disabili­ ties, 32(6), 2829–2840.

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22. Sleep     291 Couturier, J. L., Speechley, K. N., Steele, M., Norman, R., Stringer, B., & Nicholson, R. (2005). Parental perception of sleep problems in children of normal intelligence with pervasive developmental disorders: Prevalence, severity, and pattern. Journal of the American Academy of Child and Adolescent Psychiatry, 44(8), 815–822. Durand, V. M. (1998). Sleep better!: A guide to improving sleep for children with special needs. Baltimore, MD: Paul H. Brookes Publishing. Goodlin-Jones, B., Tang, K., Liu, J., & Anders, T. F. (2009). Sleep problems, sleepiness, and daytime behavior in preschool-age children. Journal of Child Psychol­ ogy and Psychiatry, 50(12), 1532–1540. Hartshorne, T. S., Heussler, H. S., Dailor, A. N., Williams, G. L., Papadopoulos, D., & Brandt, K. K. (2009). Sleep disturbances in CHARGE syndrome: Types and relationships with behavior and caregiver well-being. Developmental Medicine and Child Neurology, 51(12), 143–150. Hartshorne, T. S., Stratton, K. K., Brown, D., Madhavan-Brown, S., & Schmittel, M. (2017). Behavior in CHARGE syndrome. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(4), 431–438. Heussler, H. S. (2011). Sleep. In T. S. Hartshorne, M. A. Hefner, S. L. Davenport, & J. W. Thelin (Eds.), CHARGE syndrome (pp. 217–221). San Diego, CA: Plural Publishing. Hiscock, H., & Wake, W. (2002). Randomised controlled trial of behavioural infant sleep intervention to improve infant sleep and maternal mood. British Medical Journal, 324(7345), 1062. Kennert, B. A. (2018). Investigation of two methods for treating sleep problems among children with CHARGE syndrome [Unpublished doctoral dissertation]. Central Michigan University. Khan, S. A., Heussler, H., McGuire, T., Dakin, C., Pache, D., Norris, R., . . . Charles, B. (2011). Therapeutic options in the management of sleep disorders in visually impaired children: A systematic review. Clinical Therapeutics, 33(2), 168–181. Milan, M. A., Mitchell, Z. P., Berger, M. I., & Pierson, D. F. (1982). Positive routines: A rapid alternative to extinction for elimination of bedtime tantrum behavior. Child Behavior Therapy, 3(1), 13–25. Minde, K., Popiel, K., Leos, N., Falkner, S., Parker, K., & Handley-Derry, M. (1993). The evaluation and treatment of sleep disturbances in young children. Journal of Child Psychology and Psychiatry, 34(4), 521–533. National Sleep Foundation. (2015). Sleep in America poll: Pain and sleep. Sleep Health: Journal of the National Sleep Foundation, 1, e14–e375. Palm, L., Blennow, G., & Wetterberg, L. (1997). Long-term melatonin treatment in blind children and young adults with circadian sleep-wake disturbances. Develop­ mental Medicine and Child Neurology, 39, 319–325. Polimeni, M. A., Richdale, A. L., & Francis, A. J. P. (2005). A survey of sleep problems in autism, Asperger’s disorder, and typically developing children. Journal of Intel­ lectual Disability Research, 49(4), 260–268. Richdale, A., Francis, A., Gavidia-Payne, S., & Cotton, S. (2000). Stress, behaviour, and sleep problems in children with an intellectual disability. Journal of Intellectual and Developmental Disability, 25(2), 147–161. Steenari, M. R., Vuontela, V., Paavonen, E. J., Carlson, S., Fjällberg, M., & Aronen, E. T. (2003). Working memory and sleep in 6- to 13-year-old schoolchildren. Journal of the American Academy of Child and Adolescent Psychiatry, 42(1), 85–92.

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292     CHARGE SYNDROME Stores, G., & Ramchandani, P. (1999). Sleep disorders in visually impaired children. Developmental Medicine and Child Neurology, 41(5), 348–352. Stratton, K. K., & Hartshorne, T. S. (2019). Identifying pain in children with CHARGE syndrome. Scandinavian Journal of Pain, 19(1), 157–166. Trider, C. L., Corsten, G., Morrison, D., Hefner, M., Davenport, S., & Blake, K. (2012). Understanding obstructive sleep apnea in children with CHARGE syndrome. Inter­ national Journal of Pediatric Otorhinolaryngology, 76(7), 947–953. Wachtel, L. E., Hartshorne, T. S., & Dailor, A. N. (2007). Psychiatric diagnoses and psychotropic medications in CHARGE syndrome: A pediatric survey. Journal of Developmental and Physical Disabilities, 19(5), 471–483. Weiss, M. D., Wasdell, M. B., Bomben, M. M., Rea, K. J., & Freeman, R. D. (2006). Sleep hygiene and melatonin treatment for children and adolescents with ADHD and initial insomnia. Journal of the American Academy of Child and Adolescent Psychiatry, 45(5), 512–519. Yang, C. M., Lin, S. C., Hsu, S. C., & Cheng, C. P. (2010). Maladaptive sleep hygiene practices in good sleepers and patients with insomnia. Journal of Health Psychol­ ogy, 15(1), 147–155.

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CHAPTER 23

Changes Over the Life Cycle NANCY SALEM-HARTSHORNE, MEGAN C. SCHMITTEL, KASEE K. STRATTON, and SANDRA L. H. DAVENPORT

INTRODUCTION This chapter addresses the primary life cycle tasks faced by individuals with CHARGE syndrome (CS) from infancy to adulthood (Figure 23–1). Our knowl­ edge of these changes has developed along with the children we have known for many years. At the first International CHARGE Syndrome Conference for Families and Professionals in 1993, most of the children in attendance were under 6 years of age. Today, this group is well into adulthood.

INFANCY Infants born with CHARGE can have a large number of problems, not all of which are evident at birth. Because the expression of each symptom can be mild to severe, each child has a unique set of circumstances that needs to be addressed. Many infants with CS are extremely ill (Figure 23–2) and, in fact, we estimate that 15% to 20% do not make it to their third birthday. Many remain medically fragile throughout their lives. 293

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Figure 23–1.  CHARGE: 7 to 19 years. 294

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Figure 23–2.  Many medical issues must be addressed at birth and for the next several years.

The physical influences on development are many. Figure 23–3 is a sche­ matic diagram of some of these influences. When multiple body functions do not work properly, a great many factors impinge on development. Fig­ ure 23–3 breaks these influences down into those that are external (vision, hearing, touch, etc.) and those that are internal (swallowing, breathing, mobility, etc.). In one way, all are internal since the five input senses are all part of the body; however, these senses require outside stimuli. Pain is placed between the two because it can occur as a result of external or inter­ nal events (see Chapter 29). Every child also has, of course, his or her own personality and learning style. With so many physical and sensory challenges, it may be difficult to figure out just what the underlying personality and learn­ ing style may be. The many physical abnormalities result in swallowing problems, breath­ ing difficulties, mobility constraints, and fatigue, all of which are addressed in other chapters. This constant fatigue can cause a child to not have much energy to put toward learning new skills. The problems listed in Figure 23–3 do not even constitute a comprehensive list. Just when one issue seems to be under control, another one arises. The first one to three years of life are often devoted to dealing with medical concerns. Not much time is left in the

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Figure 23–3.  Physical influences on development in CHARGE.

days of some families to devote to developmental stimulation, yet this is the very thing that will produce the most functional adult. If possible, members of the medical team, particularly the therapists, should communicate with their counterparts on the educational team so that a consistent and integrated program can be developed. The individual senses and sensory issues in CHARGE are addressed in other chapters of this volume. Quite a bit is known about vision and hearing, which are the primary senses for learning about the environment and for language development. The sense of smell is probably more important than previously appreciated and needs further study, especially when its absence is combined with deafblindness. Individuals who are lacking most or part of those three primary senses (the distance senses) are left with taste, touch, and the internal senses, which help control balance, namely, the vestibular sense and proprioception. Taste and flavor rely greatly on a sense of smell and therefore can also be compromised. Taste requires that something be put in the mouth, and many young children with CS either seem to mouth objects for longer periods than other children or are orally defensive (anec­ dotal observations). Touch is far more complex than it appears, since different neurologic pathways serve different aspects of touch. More research needs to be done on touch, as it is a very important avenue for learning, particularly for

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those with hearing and vision deficits. Some individuals with CS report that light touch can be very annoying, and they prefer a firmer approach. Infants who are deafblind may resist touch and holding due to sensory defensiveness or vestibular insecurity. This may deprive them of oxytocin, the “cuddle hor­ mone,” which has been shown to be important for attachment to caregivers (Galbally, Lewis, van Ijzendoorn, & Permezel, 2011). Sensory integration tech­ niques, such as using weighted vests and brushing and joint compressions, are often found to be a calming influence for many of these children. Finding ways to hold and touch the infant in a manner comfortable for them is also an important task. These considerations should be explored starting in infancy. One of the most important developmental considerations is for the infant or child to be able to anticipate what will come next. The usual approaches in a medical setting are to talk soothingly or to show the child something to interest and distract them and then proceed with the examination. These approaches are ineffective when the child can neither see nor hear well. There­ fore, approaching the child in a consistent way using touch is important (see Project Salute, http://www.projectsalute.net). For instance, placing a hand on the leg or arm and leaving it there (thereby encouraging the child to lay his/her hand on top of the examiner’s hand), moving it to the place of interest (e.g., otoscope or other instrument), and then allowing some exploration can be a useful strategy. Waiting is not something that busy medical professions usu­ ally have time for, but children and even infants who are deafblind need to be allowed more time to understand what is going on and to develop a response. The first few years in the life of a child with CHARGE are filled with hospitalizations and medical appointments. Recent research with a Swedish sample of five infants with CS found the median hospital stay in the first year of life to be 113 days. In addition, these infants underwent between 10 and 34 tests and procedures and were prescribed between 10 and 28 medications before age 1 year (Anderzén-Carlsson, 2015). Children do not develop—and in fact probably regress—when in the hospital for prolonged stays. Developmental delay is almost always an is­ sue and can be misinterpreted as representing cognitive impairment if the extent of the medical involvement and sensory losses are not appreciated. Gross motor milestones are delayed because of vestibular dysfunction, the often-present truncal hypotonia, chronic fatigue due to heart issues and/or intermittent illnesses, unusual sleeping patterns, and loss of opportunity for movement and exploration while hospitalized. If large retinal colobomas are present, large portions of the upper visual field are absent. This, too, has an effect on gross motor development, since infants in a prone position will not have any incentive to lift their heads or reach for objects out of their visual field. They only see what is, literally, in front of their noses. If central vision is also affected, fine motor performance will also be delayed since manipula­ tion of objects will be dependent on only tactile experience. Hearing loss will cause delay in establishing a formal communication system unless non­ auditory approaches are integrated into the learning process. Personal-social

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skills will also be affected if parents and other caregivers are not aware of the profound effect of multiple sensory losses on accessing information from people and the environment. CHARGE is a condition that requires the involvement of many medical specialists, both in the immediate newborn period and periodically through­ out life. Families are often overwhelmed with the enormity of the task ahead and frequently ask, “Who’s in charge? Who can coordinate these appoint­ ments for us? Are the different specialists talking to one another?” While in the newborn nursery, the neonatologist is in charge of making sure that all organ systems are properly assessed and that the infant becomes medically stable enough to be discharged home. After discharge, the primary care pe­ diatrician and nurse are frequently hard-pressed to spend adequate time to serve as care coordinators. Occasionally, this role is taken on by geneticists, though they are more often consultants. Developmental pediatricians in com­ plex/chronic care clinics may be available (usually within a university setting) to fill this need. But most often, the parents end up as the coordinators, a difficult task for the most experienced of parents that is often further com­ plicated by new issues periodically being added to the problem list. Keeping track of specialists, appointments, and procedures can be challenging (see Box 23–1). Parents may find they are spending a great deal of their time at medical visits, consuming much of what was once family or even work time (Davenport, Kloos, & Prouty, 2003). The stress of care coordination can be enormous. Appointing a medical professional to assist parents with care co­ ordination and to provide support is key to alleviating this stress ( Wulffaert et al., 2009). From the beginning, a seemingly endless stream of physicians, nurses, therapists, and counselors interact with the child with CHARGE and the fam­ ily (Table 23–1). The sheer number of people involved can have a profound impact on the family and child, and there is often a high degree of turnover of the particular specialists interacting with any one child. Most of these pro­ fessionals look only at the organ systems within their specialty and have little understanding of the profound problems presented by having multiple sen­ sory losses. Communication is done through the parents, as is appropriate for young children, but the effect on examiners’ interaction with a child who has limited distance senses of sight and hearing is rarely understood. As a conse­ quence, children are examined, poked, and prodded without understanding what is happening or what will happen to them. This can lead to more than the usual aversion to white coats, hospitals, and procedures and can result in significant tactile and oral defensiveness. These consequences also require rigorous study and a development of model programs for educating medical professionals on how to approach children with significant sensory losses. Referral to the early childhood educational team occurs when develop­ mental delay is obvious or, sometimes, as soon as the diagnosis of CHARGE syndrome is made. The early childhood team is usually limited to three or four people who provide services in the home. Once again, however, many

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Box 23–1  Organizing Medical Information To help keep track of the many appointments with a range of specialists, it is recommended that professionals assist families in setting up and keeping records. This listing of appointments can be shown to each specialist who wants more time with the child and family so that appointments can be coordinated or even minimized. When possible, team meetings involving the various specialists (or at least consultations among the specialists) can be very helpful.  There are a number of online tools for organizing medical information. Parents may want to organize the information in an electronic format, a binder, or a combination of both. Things that might be included are as follows:  n Emergency information



n  Allergies



n  Medications



n  Mode



n  Best



n 

of communication

IV site, g-tube, trach, other possibly nonobvious information Contacts (parents, physicians) 

n Concise summary of the child’s history and issues n Problem list



n  List

of problems



n  List

of specialists, where they are seen 

n Surgeries



n  Dates,

hospitals and physicians involved 

n Appointments and procedures

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 istorical list of appointments, chronological and/or by H specialty



n 



n  Future



n  Plan

scheduled appointments

(e.g., Cardiology, RCT 3 years) 

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300     CHARGE SYNDROME Table 23–1.  Possible Members of a Medical Team Specialties Involved Initially

Other Consultants

Neonatology

Urology

Cardiothoracic surgery

Primary care

Endocrinology

Pediatric surgery

ENT

Gastroenterology

Speech therapy

Genetics

Plastic surgery (cleft palate team)

Respiratory therapy

Cardiology

Immunology

Neurology

Infectious disease

Audiology

Psychiatry

Ophthalmology

Psychology

Radiology

Feeding team

Medical social worker

Physical therapy

Developmental pediatrician

Occupational therapy

specialists may become involved with a child with CS (Table 23–2). Like medical consultants, most education consultants (educators, therapists, psy­ chologists, and others) have had little exposure to the issues involved in combined sensory losses. This can result in misleading assessments and inad­ equate program development. Referral to a Deafblind Project consultant can be helpful (see Box 23–2). Unless in a specialized classroom setting, teachers for the deaf/hard of hearing and the blind/visually impaired often do not do hands-on teaching but, rather, provide indirect service (technical assistance) by sharing information with and training the early childhood or classroom teacher. As with medical personnel, there is likely to be a high degree of turnover. One study (Petroff, 2001) showed that students who are deafblind had an average of 13 people on their education team and that half of the team rotated out each year. At this rate, there is a whole new team every third year. Finally, parents need time to simply be parents and to bond with their child, as well as some time to themselves (see Chapter 31). This is hard to do when so many people are requesting time and making suggestions for their child, who has so many different needs. Someone needs to help the parents prioritize the child’s issues. Helping the parents identify respite services that are prepared to deal with a child with complex medical issues can help pro­ vide parents a break from the nonstop, stressful routine. Anyone who works with a child who has CHARGE needs to be aware of the multiple confusing bits of advice and instruction given to the child and family. Trying to keep instructions and other communications clear, simple, and in writing will help.

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23.  Changes Over the Life Cycle       301 Table 23–2.  Possible Members of an Education Team Early childhood teacher

Physical education/recreation teacher

Physical therapist

Art teacher

Occupational therapist

Music teacher

Speech and language therapist

Counselor

Deaf/hard of hearing teacher

Psychologist

Blind/visually impaired teacher

Social worker

Orientation and mobility specialist

Behavior specialist

Deafblind project consultant

School nurse/health services

Classroom teacher

Special education director

Special education teacher

Principal

Classroom aide

Assistive technology specialist

Sign language interpreter

Parent training

Intervener

Transportation

Box 23–2  Deafblind Projects Deafblind projects are available in every state and territory funded by the U.S. Department of Education, Office of Special Education Programs. There is a list of projects at https://nationaldb.org/mem bers/list?type=State+Project. These projects provide consultation to schools, trainings on deafblindness, and support to families with children who are deafblind and under the age of 21 years. Most pro­ jects will work to support children with CHARGE even without the formal deafblind diagnosis. Parents should contact their state project as early as possible. 

CHILDHOOD Longitudinal and cross-sectional studies of the development of children with CHARGE are scarce. Salem-Hartshorne and Jacob (2005) provided some lon­ g­itudinal data on characteristics, abilities, and adaptive behavior in individ­ uals with CS over time (n = 100 initial, n = 87 at 4-year follow-up). Adaptive behavior scores were found to remain relatively stable over the developmental

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302     CHARGE SYNDROME

years, with age at walking being the strongest predictor of later ability levels. Those children who walked earlier tended to have higher scores. T. S. Harts­ horne, Grialou, and Parker (2005) provided some data regarding autistic-like behaviors in 160 children with CS across different age groups. The group with the highest autistic-like behavior scores was the youngest group (3- to 4-yearolds), with scores in most groups being moderately correlated with the number of surgeries. From these and other studies, and from our experiences working with children with CS and their families, some common themes in develop­ ment can be generated. Table 23–3 summarizes some of these major issues of childhood for children with CS, which are further discussed later ( Figure 23–4).

Table 23–3.  Major Issues of Childhood Early Childhood (2–6 years)

Middle Childhood (7–12 years)

Achieving physiological stability.

Keeping up.

Learning to walk.

Finding the right program.

Where and when to start school.

Where do I fit?

They like me; they really like me.

Figure 23–4. With major medical issues behind them, children with CHARGE must now learn to interact with their world.

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23.  Changes Over the Life Cycle       303

Physiologic Instability Infants and young children with CHARGE are typically faced with multiple physical difficulties. Swallowing incoordination, ear infections, breathing dif­ ficulties, excess secretions, heart irregularities, multiple surgical interventions, and difficulties with achieving homeostasis in sleeping, breathing, and eating patterns are among these problems. As a result, children with CS spend a ma­ jority of their waking hours attempting to regulate their internal systems and health. This is a major task in infancy and early childhood, and the child’s strug­ gles will inevitably take most of their energy, thus not allowing the child to be as available for typical physical and cognitive developmental milestones early on. It is important to respect this inner struggle when attempting physical or educational interventions that require dedicated concentration and attention. The vestibular problems that delay walking are addressed elsewhere in this volume. But walking is a function of other senses as well, such as vision, proprioceptive feedback, and low muscle tone. Given these problems, it is surprising that children with CHARGE learn to walk at all. But they do. While some children under 18 months learn to walk, some are as old as 12 years. T. S. Hartshorne et al. (2005) report that of 117 participants, the average age of walking was 3 years, 1 month, and half walked between the ages of 2 and 3 years. What is the significance of learning to walk? A later age of walking is cor­ related with more challenging behavior (T. S. Hartshorne & Cypher, 2004), more autistic-like behavior (T. S. Hartshorne et al., 2005), poor adaptive behav­ ior skills (Salem-Hartshorne & Jacob, 2005), more executive dysfunction (T. S. Hartshorne, Nicholas, Grialou, & Russ, 2007), a greater number of psychotropic medications taken ( Wachtel, Hartshorne, & Dailor, 2007), communication dif­ ficulties (Thelin & Fussner, 2005), and sleep problems (T. S. Hartshorne et al., 2009). In other words, age of walking seems to be a marker for more serious developmental complications of CHARGE syndrome. It is not clear what it is about walking that makes it such an important marker in CHARGE. It may be because being able to walk is related to so many other functions, and early walking implies the other abilities are not as impaired. It may be that being upright facilitates more accurate perceptions of the world, improved breathing, and opportunity for more social interac­ tion. It is likely that the vestibular challenges associated with late walking also affect other important systems for learning. For example, it has been sug­ gested that problems with inner ear mechanisms such as the vestibular-ocular reflex and otolith malformations, as well as missing or malformed semicircu­ lar canals, may play a role in the ability to coordinate head and eye move­ ments and, thus, learning, when the head is not stabilized. Additionally, many children with CS have reduced function in the cerebellum, leading to cen­ tral vestibular difficulties (Lasserre, Vaivre-Douret, & Abadie, 2013; WienerVacher, Amanou, Denise, Narcy, & Manach, 1999). These combined anomalies

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304     CHARGE SYNDROME

will not only affect the age at which children walk, but also other mecha­ nisms that will affect learning, overall. Mastering walking is a huge achievement, but many children with CHARGE progress beyond that to pursue other motor activities, such as running, jum­ ping, skipping, swimming, and even bike riding and rock climbing (Imel, Hart­ shorne, Slavin, & Kanouse, 2020). Not all are successful, but some are. Finding ways to keep up with siblings and peers seems to be a huge motivator for chil­ dren as they move through school. School (see Chapter 32) The transition from home-based services to school-based services can be a difficult one for parents and their children with CHARGE. The intensity of interventions typically provided by the parents during the first years of life creates clear ownership of child health and educational outcomes for the family. To relinquish this into the hands of educators who seemingly know little about their child or the syndrome is a difficult process for parents (Fig­ ure 25–5). Additionally, related services that the child may have received in the home are likely to become school based as well, with changes in per­ sonnel providing the services and less allowance for parent observation and consultation during the services. It is important for educators to allow for a gradual and smooth transition from home-based to school-based services in order to provide comfort for the parents and the child. Regular contact between therapists and parents should take place after this transition to main­ tain consistency between home and school. For example, a notebook the child carries in their backpack or a daily email from school professionals can go a long way in helping with school-home communication, so that there is consistency and awareness of health/medical, feeding, toileting, behavioral, and educational issues between the two settings. The wide variety of special­ ists involved in infancy and school is listed in Table 23–1 and Table 23–2. Any or all of these should be considered for a child with CS. It is imperative that a student’s program plan be written before a school or classroom placement decision is made. It is somewhat typical of school districts to automatically group students into classrooms that match the stu­ dents’ labels. For example, a child labeled as having autism could be placed in a classroom for children with autism, based on the label, instead of the child’s specific needs. Children with CHARGE often have multiple “labels” and mul­ tiple needs. Prioritizing these complex educational needs may be helpful in identifying the most appropriate setting. Children with CS have been suc­ cessful in a wide variety of educational setting types. In the earlier years, it is especially important to consider inclusive education for the child in order to facilitate connections with nondisabled peers that can last throughout the school career and even into later life. Research has indicated that individu­ als educated in more inclusive educational settings meet a greater number

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23.  Changes Over the Life Cycle       305

Figure 23–5. Families are faced with relinquishing some of their care to the schools.

of their IEP goals, are more motivated, have natural models for appropriate behavior, and have sustained interactions with peers without disabilities (Stengle, 1996). These factors alone should make educators stop and think before automatically eliminating the possibility of a general education class­ room equipped with appropriate supports and a team of school specialists providing input for programming. Many children with CHARGE are accompanied throughout school by one-on-one personnel. Interpreters, interveners, and health care aides can seem attached like glue to the student. This can have an unintended negative effect on the child’s ability to connect socially with other students. Other stu­ dents may tend to ignore the child because the child is always with an adult. One-on-one adult aides need to be aware of this effect and find ways to con­ nect the child with peers. For example, peers can be encouraged to eat with the child, push the child’s wheelchair or help guide them down hallways, play with the child during recess, and sit with the child during class activities.

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306     CHARGE SYNDROME

We have spoken with many parents of children with CHARGE who report that their child managed to stay on grade level at school until about third grade. This is when academics transition from being largely based on rote learning and memory to more abstract concepts. It is also when children are assigned more seated work in the classroom and homework outside of the classroom. Given their sensory issues, extended seated work time is very difficult for children with CS. It takes enormous powers of concentration to keep their hearing and vision focused on academic tasks while managing their vestibular and proprioceptive issues. The resulting exhaustion and frustration, along with the more challenging academic work, can create considerable stress that can develop into more challenging behavior along with academic stagnation. Children with CHARGE have been found to have more difficulty with reading comprehension than with decoding. In a study of 44 individuals with CS (aged 9–21 years), Salem-Hartshorne, Blake, and Hartshorne (2011) found that reading ability ranged from no ability to college level. Sixty percent of parents reported that their children understood what they read most or all of the time. The other 40% reported that their students understood “a little” to “half” of what they read. The complexity and diversity of children with CS is such that many factors should be taken into account when providing them with reading and other instruction. Educators should become familiar with each child’s needs (medical, cognitive, and sensory) and pay close attention to learning style when providing instruction. Social Issues, Friendships Making and keeping friends in school are challenging for children with CHARGE. When first entering school, if in an inclusive setting, they may find friends and even be invited to birthday parties. As they move to middle child­ hood, this happens less often. In the same study of 44 individuals with CS, 44% had no friends to report, 23% had only friends with disabilities, and 8% had friends without disabilities (Salem-Hartshorne et al., 2011). Part of this social difficulty seems to be attributed to problems with keeping up with their peers’ physical, cognitive, and social-emotional development. Because of the combi­ nation of varying developmental ability levels, personality and psychological quirks, asymmetrical facial features, appearance, walking gait, incontinence issues, educational placements, and lack of free time, children with CS are less likely to be successful in making friends with students without disabilities. Social play is an important part of early child development—it facilitates the development of cognitive and language skills and provides opportunities for early learning of social-emotional skills. During social play, children frequently interact with others and are exposed to situations that require problem-solving skills, language skills, and social-emotional skills (Fisher, 1992; Linder, 1993). When children interact with others, they learn social skills and emotion regula­ tion by watching other children react to various situations. Children also learn

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23.  Changes Over the Life Cycle       307

by practicing skills during play and receiving positive or negative feedback from others (  Johnson, Christie, & Wardle, 2005). Some characteristics associ­ ated with CHARGE may inhibit the development of social play. Children with sensory or physical impairments develop social play differently than typically developing peers. They engage less frequently or in less complex forms (i.e., solitary play) of social play (Bar-Haim & Bart, 2006; Frost, Wortham, & Reifel, 2001; Guralnick & Hammond, 1999; Guralnick & Weinhouse, 1984; Johnson et al., 2005; Kennedy-Behr, Rodger, & Mickan, 2013). Because of this lowered frequency, children with CS may be missing out on important opportunities to learn and practice appropriate social behaviors. Delays in social play might play a key role in the social and emotional difficulties that children with CS commonly face (T. S. Hartshorne, 2011). Additionally, given the multisensory impairments in children with CS, service providers can make a difference through direct teaching of social skills that many do not acquire through inci­ dental learning. Direct teaching of skills, in combination with experiences to practice those skills, can help expand the child’s repertoire of social behaviors. The keys to building friendships are proximity and shared experiences. Getting children with CHARGE involved in groups that include children with­ out disabilities on a regular basis helps them to connect with same-aged peers. Even if a child is educated in a segregated setting, he or she can participate in recreational sports, scouts, religious education, and neighborhood play dates. These attempts at connection will help the child with even the most severe case of CS practice social skills, form meaningful bonds, and fit in. In addition, nondisabled peers often become strong advocates for their friends with CS, assisting them with fitting in as they enter adolescence, and will learn for them­ selves about respecting and caring about others in a way they otherwise may not have.

TEENAGE AND ADULT YEARS The teenage years are a time of physical and psychological change for all ado­ lescents that most parents approach with apprehension. A simplified timeline (Table 23–4) can help navigate these issues. Although the teenager with CHARGE may show physical and developmental delays, they will still travel through these psychological developmental stages. The timeline in CS may be shifted to older ages (to the right)—an adolescent who is 15 years old with CS may be in early puberty and in the early developmental adolescent stage. This section begins with two studies investigating facets of life for teens and adults with CS, continues with more specific information on various age groups, and finishes with stories from several adults with CS. Little has been written about the teenage years for children with CHARGE. Surveys were sent to parents of 80 children with CS who had been surveyed in two previous studies (Salem-Hartshorne & Jacob, 2005). The parents were

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308     CHARGE SYNDROME Table 23–4.  A Timeline for Typical Adolescent Development Early Adolescence (10–13 years)

Middle Adolescence (14–16 years)

Late Adolescence (17+ years)

Appearance “How do I look?”

Friends “Who are my friends?”

Separation from parents “I want my independence.”

Conforming “I want to wear similar clothes.”

Peer Approval “Do I fit in with the group?”

Closer relationships “I would like to hook up.”

Anxiety “I’m afraid I don’t fit in.”

Wanting to be accepted

The future and transition “What is my future? I’m worried.”

asked to update their child’s health history and complete the Adaptive Behav­ ior Evaluation Scale (ABES) (McCarney, 1995) and the Supports Intensity Scale (SIS) (Thompson et al., 2004). Surveys were returned for 51 individuals with CS, aged 9 to 21 years (24 male and 27 female). The results of this longitudinal study revealed that adaptive behavior scores for this sample appeared to split equally between (a) moderate to severe impairment and (b) low average to average developmental abilities. Those who walked and were toilet trained at an earlier age tended to score higher on the ABES. Higher ABES also correlated with more friendships and higher reading ability and comprehension. The SIS, which is designed to measure support needs for individuals with developmen­ tal disabilities, was administered to those 18 years and older (n = 15). This sam­ ple clustered around “intermittent” and “limited” needs for supports (versus “extensive” or “pervasive” needs) and again correlated with early ABES scores. More recently, quality of life in adolescents and adults with CHARGE was investigated (N. Hartshorne et al., 2016). Fifty-three individuals, aged 13 to 39 years (63% male), were studied using a health-related quality-of-life scale and other measures. Almost half of them attended a mainstream school. The average reading level was grade 4, while 38% did not read at all. However, 30% received some sort of training after high school, including college, vocational training, and, for one participant, graduate school. Of those aged 18 years and older (n = 31), seven (23%) lived at home, two (6%) lived in a group home, and eight (25%) lived independently, with varying levels of support. The other 15% did not indicate a living situation. Participants reported that daily activities were difficult because of hearing, vision, and balance, followed closely by anxi­ ety and other emotions. The medical issues reported in this study can be found in other sections of this book. Of note is that sleep difficulties and anxiety were highly represented as problems affecting behaviors. About half reported aggression, tactile defensiveness, obsessive-compulsive-like behaviors, and self-

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23.  Changes Over the Life Cycle       309

injurious behaviors. Indeed, sleep and anxiety were statistically related. It is also important to note that sleep difficulties and anxiety were statistically correlated, and both were highly correlated with difficult behaviors. Finally, quality of life was assessed. Individuals reported that participation in social activities was most affected by overall health, behavior, and balance issues, and that both quality and quantity of friendships were affected by sensory impairments. In general, however, 40% of participants rated their overall health-related quality of life as good, very good, or excellent, and individuals reported a similar average number of physically unhealthy days as the general population. However, these participants reported an average of 5 mentally unhealthy days per month, in comparison with 3.5 days in the general popula­ tion. We concluded that sleep issues are a major concern for this population and may, in turn, lead to more mental health problems overall. Investigation of and intervention in mental health problems are appropriate to improve quality of life overall in this population. Early Adolescence (10 to 13 years) The younger teenager with CHARGE will be concerned about their appear­ ance. This concern can involve the clothes they wear, the changes in their body when puberty starts (or does not start), and their distinct CS features, which can significantly set them apart and engender peer assumptions about their abilities. Many individuals with CS have unilateral or bilateral facial palsy, which gives them either an asymmetrical facial appearance or the appear­ ance of flat or missing emotions. It is important that they feel encouraged and empowered to explain their features to acquaintances and friends early on so that their appearance may be understood by peers. During middle school, following trends and conforming to the “teenage look of the time” will be important for feeling like they fit in. Another challenge may arise when a teenager with CHARGE requires sig­ nificant one-on-one attention. Interpreters and intervenors who are always in close proximity to students are likely to have a stifling social effect on the ado­ lescent’s ability to connect on a personal and more intimate level with other teenagers. Other students may see the student with CS as unapproachable or even undesirable because an adult is always around. Educators and one-on-one providers should take steps to allow the student to be able to conform, be as independent as possible, and have some natural support from peers. Anxiety and depression are common in teenagers with chronic illnesses going through the transitions of puberty, but even more so for teens with CHARGE. Cognitive behavioral therapy and drug treatment may be necessary, but because of its relationship to many behavioral characteristics seen in CS, intervention for possible sleep disturbance should be the first area investi­ gated (N. Hartshorne et al., 2016).

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310     CHARGE SYNDROME

Middle Adolescence (14 to 16 years) In the middle of the adolescent spectrum, it is still very important for teen­ agers with CHARGE to fit in with their peers. Social issues and friendships are among the most important developmental tasks of adolescence. However, for several reasons, these are more challenging for individuals with CS, who have few friends, if any. As stated earlier, half of the children with CS in one study were friendless, while one-fourth only had friends with disabilities them­ selves (N. Hartshorne et al., 2016). Why are friendships so difficult? Sensory impairment is a huge barrier to communication and social acceptance. There may be multiple other reasons, including the teens’ developmental level, associated conditions such as atten­ tion deficit hyperactivity disorder, obsessive-compulsive behavior, autistic-like behavior, delayed puberty, and appearance. Additionally, these individuals’ needs for assistance in getting around and more segregated educational place­ ment add to the challenges of making friends without disabilities. It is important to attempt to consciously provide opportunities for friend­ ships to emerge. The keys to building connections and friendships are proxim­ ity and opportunity. In order to form bonds, people must have frequent access to one another. Ways to enhance these opportunities include attendance at school with nondisabled peers and gaining memberships in extracurricular groups with others of their age. If a teenager becomes involved in extracur­ ricular activities with peers, they are likely to make connections with others and develop closer friendships. If these attempts are less than successful, a formal Circle of Friends (Forest, Pearpoint, & O’Brien, 1996) may be necessary to assist the individual (Box 23–3). Segregated classrooms may also be a culprit in the difficulty of ado­ lescents with CHARGE to form friendships with nondisabled peers. SalemHartshorne et al. (2011) found that only half of our sample spent any time in a general education classroom where they had access to nondisabled peers. Approximately 40% attended a segregated setting full time, and 10% did not attend an educational setting at all. Again, in inclusive educational settings,

Box 23–3  Circle of Friends A Circle of Friends is a group of people that forms around a person with a disability. Its purpose is to support the individual’s inclusion into the school, community, and workplaces, always taking into account the individual’s personal dreams, wishes, and needs. The individual invites those whom they feel support them in their lives to be involved in the circle. Circles may be formed around adults, and also in schools, where they are made up primarily of the individual’s nondisabled peers.

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there are more natural models for appropriate behavior, and more opportuni­ ties for sustained interactions with peers without disabilities (Stengle, 1996). Late Adolescence (17+ years) and Adulthood For individuals with multisensory impairments, learning to be independent can be a challenge. Repetition and routine are essential in order for adolescents with CHARGE to learn how to take care of themselves. The constant presence of parents, interpreters, interveners, and others can result in learned helplessness or, at the least, passivity in everyday life. Promoting independence can be a dif­ ficult task for both educators and parents. Blake, Salem-Hartshorne, Daoud, and Gradstein (2005) found that about one-third of their adolescent and adult CS sample exhibited no independence in personal care, in the community, or in tak­ ing care of their homes and finances. However, independence was achieved in other areas (see Table 23–5). N. Hartshorne et al. (2016) found that over half of participants needed some assistance with routine (79%) and personal care (53%). It should be noted that the sample in this study was recruited through various CS support organizations. Many adults with CS who are independent and doing well no longer feel the need for such supports and are not available to investigators. Although many individuals with CHARGE have some independence in self-care, a large portion of them lack higher-order skills of independence (N. Hartshorne et al., 2016). This is an important finding, as it may reveal a lack of instruction in these areas for adolescents and adults still attending school or in transitional programs. In turn, this lack of instruction may help explain why so few of these individuals move out of their family homes. Because so much of the instruction for home care, finances, and shopping takes place in the home for typical adolescents, it is expected that individu­ als with CS will receive that instruction at home as well. However, families with teens with CS are often ill equipped, both instructionally and timewise, to provide the intensity of instruction needed to foster independence in their children. Schools and transition programs should step forward to meet this important need for these individuals and their families. Table 23–5.  Independence in a CHARGE Syndrome Adolescent and Adult Population (n = 30)

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Dressing and toileting independently

66%

Washing themselves independently

43%

Independent mobility in the community

30%

Independence in cleaning the house

20%

Independence in shopping

13%

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312     CHARGE SYNDROME

The Transition From School and Home The transition from school to work and from home to a new living situa­ tion is a natural step for older adolescents and young adults. For individuals with CHARGE, there seem to be fewer opportunities to find their paths. N. Hartshorne et al. (2016) found that almost one-fourth of individuals aged 18 years or older were able to live independently, both with and without support. When parents of younger adolescents were asked about the living arrangements they envisioned for their children, only one-fourth envisioned their child living independently. The lack of opportunity for more individuals to find independent living situations at the transition age is something that needs to be addressed. Finding work in an appropriate setting as an adult can be challenging for individuals with CHARGE. N. Hartshorne et al. (2016) reported a variety of work situations for individuals with CS, including paid work, volunteer work, internships, and no work at all. This last situation is not an atypical one for individuals with more severe disabilities. Waiting lists and limited funding for vocational placements are significant barriers. Again, the study did not include adults with CS who are completely independent and no longer in contact with the various CS support organizations. It is important for those working with individuals with CHARGE to assist them in their transition planning. This is most easily and effectively accom­ plished through the use of person-centered planning techniques (Forest et al., 1996). These are a set of powerful and highly effective planning techniques centered on the individual that take into account their needs, preferences, and interests when planning for the future. Outcomes of a good person-centered plan can include finding ways for individuals to have access to postsecondary education, vocational training, integrated employment (including supported employment), continuing and adult education, adult services, independent liv­ ing (including supported living), and, equally important, social connection and community participation. A person-centered plan can also include finding ways for older individuals with CS to have access to various opportunities. At Per­ kins School for the Blind, more than a quarter of the students in the DeafBlind program have CS. Perkins is now conducting person-centered planning for every student in the blind and deafblind programs at ages 14, 17, and 21 years to ensure a smooth and holistically global transition to adulthood. Secondary schools and adult agencies should collaborate with one another and with any available deafblind programs (e.g., state DeafBlind projects) to make this hap­ pen for individuals with CS as well. It is important to start this process early. Figure 23–6 illustrates the issues confronting the adolescent with CS. Transition Summary Plan early for the adolescent and adult stages of life. Start working with young teenagers on appearance. Help children and adolescents work on forming friendships and fostering peer approval. Plan, using person-centered plan­

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23.  Changes Over the Life Cycle       313

Figure 23–6.  The adolescent with CHARGE is confronted by many issues.

ning processes, for the independence that they seek but may not commu­ nicate. These growing-up steps may not come naturally for individuals with CHARGE syndrome, but they are important steps, nonetheless, on the path to successful adulthood. Being an Adult With CHARGE What is it like to be a young adult with CHARGE who must deal with issues of independence, family and friend relationships, school and work experi­ ences, challenges, and successes (Figure 23–7)? And what would young adults with CS want others to know? Interviews were conducted with three young adults to describe their experiences. All responses are presented in their own words. There is a wide range of ability among individuals with CS,

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314     CHARGE SYNDROME

Figure 23–7.  Some young adults with CHARGE get to know each other through conferences and Facebook.

and these young adults represent the higher end of the spectrum. Not all individuals with CS will have the same kinds of experiences, nor will all be able to formally communicate their experiences. Nevertheless, their insights are useful when considering the future for all persons with CS. For the sec­ ond edition of this book, we revisited these three individuals and asked them to provide a 10-year follow-up. This longer-term follow-up is also a reminder that there are many adults with CS who are doing quite well, are indepen­ dent, and have essentially “fallen off the radar” of the CS professionals and support organizations. Keith, 19 years old, California (College Sophomore) What I Want People to Know.  I find being a young adult with CHARGE rel­ atively easy compared to my younger years. Relationships, however, have remained a challenge for me. In grade school, I faced many challenges from peers. I had a few great friends in high school; however, I found several of my really good friends in the CHARGE group. Although I have had a personal relationship that has failed, I have also found a very happy relationship with

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a lovely girl with CHARGE syndrome. Social relationships and long-lasting friendships continue to remain a challenge for me into adulthood. My emotional state is quite different from when I was a teenager. When I was a teenager, I was in emotional turmoil. I was carrying a lot of pain from having a stressful situation from fourth through sixth grades. I had a teacher and health aide that were very controlling and strict and quick to yell. I also got picked on in junior high. In my high school years, I slowly recovered and now I am much happier than I used to be. In high school, I wouldn’t be able to make myself laugh, but now I am completely able to do that on my own. Independence.  I experienced a wave of independence upon my entrance into college. I have lived on the college campus for the past two years in a dorm. I plan to live in the dorms for the 2 years I have left. I live 10 minutes from my home, so my parents can get to me if they need to, and they can easily get me to doctor appointments, and so on. I am currently a psychol­ ogy major and I plan to become a family counselor to help families that need help. Challenges. Some of the major issues I face as a young adult vary from social relationships to maintaining my health. I am nostalgic for high school; I miss two of my great best friends. I had another friend who pushed me away. The other major issue is my back brace. I had one for 3 years. In high school, I needed a brace that went from my hip to my neck, making moving very hard. When I entered college, I only needed a brace that covered my abdomen. Now, I only have to wear it at night. I also have Prilosec pills and a blended diet. My parents bring in more food every week, since I don’t have the facilities to make more food. I am slowly moving from a g-tube to an oral diet during my breaks from school. Successes.  I have found many successes as I enter adulthood. I was Home­ coming Prince last year as a freshman in college, and I finally figured out what I wanted to do in life. In high school I was also vice president of student council and received several scholarships in my senior year to use for college. Keith, 30 years old, California (Marriage and Family Therapy Associate) What I Want People to Know.  At this point, I find that I do not think much about CHARGE or how it affects me. I am only aware of it when I lose my balance, or my hearing aid batteries need to be replaced. But even in those situations, I am only aware of part of it. I am quite happy to identify as a therapist first, and not identify as my diagnosis. The relationship I had in col­ lege ended after about 9 months. I spent my 20s recovering from the various traumas I’ve experienced growing up.

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Figure 23–8. Keith.

I have now formed new friendships based off my interests. I’ve joined online communities that talk about the different video games I like. I’ve also made a few close friends from those communities. I have developed a good working relationship with my coworkers. My coworkers and I are friendly and supportive of one another. When a coworker or I need help, we are quick to help each other. That leads me to my next topic: my education and career. After I went to California Lutheran University for 4 years, I went to Pepperdine University’s graduate program. I took 5½ years to complete a 2-year graduate program be­ cause I wanted to pace myself. I have grown a lot, and I found a position as a Marriage and Family Therapist Trainee in a school district. After graduation, I left the school district and started working at a counseling center as a Marriage and

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Family Therapist Associate. The difference between a Trainee and an Associate is that a trainee is still in graduate school, and an associate has a master’s degree. I currently work with all populations with mild to moderate levels of impair­ ment. I will receive my Marriage and Family Therapist license later this decade. In my first essay, I mentioned my emotional and mental health. I have been healing a lot, and I’ve learned new coping skills along the way. In ret­ rospect, I had a hard time regulating emotions in college. Being traumatized will do that to you. I have been going to my own therapist since 2013, and I’ve grown a lot from that process. Independence. For the most part, I do things on my own. I work with clients and manage their logistical needs without any problems. When I do encounter a problem, it is usually about how to handle a particular issue a client has brought up. But overall, my questions aren’t any different from a question a coworker will ask. I am still working on getting a driver’s license. It has taken a long time because it had been hard for my parents to find time to help me practice driving. I have also needed to build up confidence. Since my work is nearly an hour away from home, my plan is to find an apartment closer to work to shorten my commute. Challenges.  Right now, I don’t have many challenges; I have found a happy place in my life. I have figured out how to work with my limitations as op­ posed to fighting against them. I think most of my challenges are mental. I’ve been struggling lately with depression and anxiety. In the past, my anxiety would get out of control. Now, it is manageable on most days. The same is true for my depression. I am currently working on both in therapy. Successes. I am currently employed part time at a Counseling Center. I have been working with clients from different backgrounds and with differ­ ent diagnoses. I expect my caseload to grow to full time in the future. I am learning how to make a budget, and I have gotten much better at establishing and maintaining boundaries in relationships. Ellen, 24 years old, Sydney, Australia What I Want People to Know.  I’d like people to know that just because we (individuals with CHARGE syndrome) are grown up and have become adults, it doesn’t mean we might not need the help and supports that we received as kids. It can be challenging when those supports are taken away and we have to find them on our own. In school I had several supports, and it was okay for me. I was main­ streamed for some of the classes; as a fairly high functioning person, I was able to cope with most of what I was given. I was in a support unit with other kids my own age and often received hearing and vision assistance during the week. I needed a scribe in class at the main school. If a scribe was not

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Figure 23–9. Ellen.

provided for one lesson, I would be very behind in that day’s work. My teach­ ers were understanding and did their best to do everything they could for me. Independence.  While school was generally positive, finding work was very hard. People see someone who is deafblind and in a wheelchair as someone who can’t function—which isn’t always the case! I was doing a course in floristry once and I had trouble focusing. They said I was disruptive because I’d ask too many questions or not do the work properly, but the way they talked to me I just lost faith in doing it properly. I didn’t see any point. When I tried to take another course the next year, they wouldn’t accept me because of how I was the previous year—they wouldn’t even give me a fresh start.

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Currently, I attend a program for people like me, which has goals set for individual needs. I’m working on improving social skills and other skills. I’m finding some volunteer work. At this program, I get one day a week at the Sheltered Workshop. This is a place for people like me who can’t really go into the normal work because of their disabilities. They have supports and stuff. I do packaging of all different kinds. For example, today I packaged those bathroom detergents into little boxes. I also do labeling sometimes. Currently, I live with my mum and dad. One day I’d like a house with my friends. Challenges.  One of the major issues I have as a young “CHARGEr” is lack of services for people like me. The closest one is based an hour away. I’m lucky my program is half an hour away and is part of the larger service housed far­ ther away. Compared to being a teenager, some challenges as a young adult are different. I have medical issues like hormonal problems and worrying whether I’m doing the right stuff with it all. I also have reflux. Socially, I still have challenges that I’m trying to overcome slowly. I am still very touchy feely. I have trouble controlling what I eat which is difficult with the reflux. Heat is also a challenge, but I am doing well overall. Successes.  As a young adult, one of my successes was getting my HAC— High School Certificate. I am also getting healthier. Ellen, 34 years old, Sydney, Australia What I Want People to Know.  There is so much I would like people to know, but the biggest thing is that although there are hard days, better times will come. We just need to stay positive.  Independence.  I am now 34 years old still living in Sydney, Australia, but have recently moved into a smaller house. Mum is hoping to one day have me live there with friends and a support worker, so she is redoing things like the bathroom and installing ramps for easy access. For now, I live with my mum, who helps take care of me. Three days a week I take a taxi to attend a Northcott Life Skills program, which I have done for 14 years now. I quite enjoy it. Since 2018, I also do respite at Northcott, where I can stay at the center (instead of home) for a few days at a time. I quite enjoy respite, as I am with friends from Life Skills and have made new friends. It also gives my mum a break. Two days a week I still work at AFFORD, a supported employment place for people with disabilities.  I have a carer who comes every fortnight on a Saturday for a few hours. I am also a CHARGE champion for my state of NSW and the Australasian CHARGE Association. I belong to a walking club called Achilles Sydney. This is a running and walking group for people with vision impairment and other

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disabilities. I walk in my walker and a guide helps me. I have done a few events and I have medals for completing them.  Challenges. My health has deteriorated over the years again—mostly my gut health. I have constant pain there (no one knows why), but I try to keep going in life. Australia has brought out a disability insurance scheme which took some getting used to, but I think we are on the right track with it now.  Successes.  I’ve had many successes, including being able to travel to CHARGE conferences in the United States three times. Paul, 28 years old, Washington, DC What I Want People to Know.  Many people who first read about CHARGE syndrome often have this picture of a person who is severely disabled and cannot function properly in society. Having CHARGE syndrome does not mean having a limited life. In addition, people who have CHARGE are not all the same. Independence. Some aspects of independence have been challenging. An example of this is when I applied as a volunteer for an international program. There were two stages: an interview and a health evaluation. I passed the interview with flying colors. The health evaluator later called me and asked me what CHARGE syndrome was. I basically explained what each letter meant, thinking nothing of it. The evaluator decided to do her own research on the Internet. From this point on, her perspective of me changed and I was denied. In response to this, I made an appeal and had all my doctors send letters, and I myself wrote a letter explaining how I have lived in places where there was no running water or electricity for weeks and was able to survive. In addition, I added how I’ve become an avid kayaker and rock climber and have traveled to 13 countries. Again, I was denied. Was I upset? Of course! The important point is I have not let this deter me from finding other places to volunteer. I currently live on my own in one of my parents’ homes. Living on my own has its positives and negatives. One of the positive aspects of living alone is that I have to keep track of bills and maintain the house (e.g., yard work and keeping the house clean). I feel doing this will prepare me for the future when I have my own apartment or house. One of the negatives is groceries! I am lucky that I live in Washington DC, where everything is close by and there is major transportation, such as the Metro and buses. I am not able to drive, however, so I have to depend on neighbors or friends when I need to buy a lot of groceries that cannot be easily transported on the Metro. Although I live on my own, my family does contact me often through emails and phone calls. I do the same as well. Challenges. One of the major issues I have as a young adult is making friends. In the Deaf world, this is simple; however, in the hearing world, it is

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extremely difficult. I have a hard time trying to get people to understand that I don’t hear as well as they do. On the other hand, I do have close friends from college that I keep in contact with. As for my family relationships, my family consists of five sisters and me. I would consider my family close-knit. When problems arise, I always consult them for advice. Throughout elementary and middle school, I attended a mainstream pri­ vate school. A major challenge I had there was trying to get teachers to un­ derstand that I was hard of hearing. A lot of my teachers would brush it off as if I were trying to gain attention. I could list countless examples of this, but one stands out in my mind. As a hard of hearing person, I have to watch what people are saying to fully understand what is going on. As a child, I did not realize that I was actually reading people’s lips. During class, I was watching my teacher speak and all of a sudden, she walked up to me and asked me why I was staring at her. I don’t blame the teacher for not understanding, but it does upset me that they would allow individuals to become teachers without learn­ ing how to deal with people that have disabilities. Successes.  During my time as an undergraduate student at Gallaudet Uni­ versity, I started the first chapter for Best Buddies International. The purpose of this chapter was to create friendships between people with Down syn­ drome and college students. As the director of the organization, I felt that I had made a step that had not been made before by matching deaf college students with people who had Down syndrome and were deaf as well. Paul, 38 years old, Washington, DC (Civil Rights Testing Coordinator) What I Want People to Know.  Getting older with CHARGE syndrome pres­ ents the same challenges that every other adult faces. People with CHARGE want to live their lives just like everyone else. It is possible to do this if you are patient with yourself. You should also be ready to adapt to things differ­ ently and surround yourself with a support system of people that you trust. Independence.  Living in the basement of my parents’ house made me real­ ize that this was not truly independence for me. I liked to cook meals, but I did not have an oven. I wanted to be near things I needed, such as the gro­ cery store, the rock-climbing gym, and the metro. To resolve these issues, I went on an apartment search with my partner so we could have a place to call our own. We found an apartment that is a block away from Harris Teeter and Whole Foods grocery stores; it has a kitchen that would allow endless meals to be prepared. The best part is that my apartment building is built on top of a metro station, which allows me to go anywhere I want to be. Challenges.  Trying to prove that CHARGE syndrome is not a barrier is some­ thing that I have always tried to do. Now I find myself proving that it is in fact a barrier, especially with health insurance companies. With governmentissued insurance, I had to visit different types of medical professionals to

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Figure 23–10. Paul.

show that I, in fact, have a disability, just to receive coverage. With private insurance, I found myself in a similar boat, for example, having to prove to my insurance company that I need AndroGel, which keeps my hormones in check to live a healthy productive life. Successes.  People who know me will tell you that I am all about empow­ ering the disability community. I tend to agree with this statement as it iden­ tifies many of my successes. More than 15 years ago I started the first Best Buddies International Chapter at Gallaudet University. Since then, I partici­ pated in the creation of a disability sensitivity video (https://www.youtube .com/watch?v=Gv1aDEFlXq8) that has received more than a million views.

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I received the Advocate of the Year Award from the Equal Rights Center for my involvement in the creation of accessible bathrooms for children with dis­ abilities in Uganda. I was featured in the Washington Post for an article dis­ cussing income challenges that people with disabilities face. I became a mem­ ber of DC Advocacy partners where I was responsible for creating resume workshops for people with disabilities who live in Washington, DC. Today, I am a Civil Rights Testing Coordinator where one of my responsibilities is to identify discrimination against protected classes, which include people with disabilities.

REFERENCES Anderzén-Carlsson, A. (2015). CHARGE syndrome—A five case study of the syndrome characteristics and health care consumption during the first year in life. Journal of Pediatric Nursing, 30(1), 6–16. Bar-Haim, Y., & Bart, O. (2006). Motor function and social participation in kindergar­ ten children. Social Development, 15(2), 296–310. Blake. K. D., Salem-Hartshorne, N., Daoud, M. A., & Gradstein, J. 2005) Adolescent and adult issues in CHARGE syndrome. Clinical Pediatrics, 44, 151–159. Davenport, S. L. H., Kloos, E., & Prouty, S. (2003) Minnesota Developmental Timeline. Retrieved from https://www.chargesyndrome.org/wp-content/uploads/2016/05 /Minnesota-Development-Timeline.pdf Fisher, E. P. (1992). The impact of play on development: A meta-analysis. Play and Culture, 5(2), 159–181. Forest, M., Pearpoint, J., & O’Brien, J. (1996). MAPs, Circles of Friends, and PATH: Powerful tools to help build caring communities. In S. Stainback & W. Stain­ back, (Eds.), Inclusion: A guide for educators. Baltimore, MD: Paul H. Brookes Publishing. Frost, J. L., Wortham, S., & Reifel, S. (2001). Play and child development. Upper Saddle River, NJ: Prentice Hall, Inc. Galbally, M., Lewis, A. J., van Ijzendoorn, M., & Permezel, M. (2011). The role of oxy­ tocin in mother-infant relations: A systematic review of human studies. Harvard Review of Psychiatry, 19(1), 1–14. Guralnick, M. J., & Hammond, M. A. (1999). Sequential analysis of the social play of young children with mild developmental delays. Journal of Early Intervention, 22(3), 243–256. Guralnick, M. J., & Weinhouse, E. (1984). Peer-related social interactions of develop­ mentally delayed young children: Development and characteristics. Developmental Psychology, 20(5), 815–827. Hartshorne, N., Hudson, A., MacCuspie, J., Kennert, B., Nacarato, T., Hartshorne, T., & Blake, K. (2016). Quality of life in adolescents and adults with CHARGE syn­ drome. American Journal of Medical Genetics Part A, 170(8), 2012–2021. Hartshorne, T. S. (2011). Behavioral phenotype. In T. S. Hartshorne, M. A. Hefner, S. L. H. Davenport, & J. W. Thelin (Eds.), CHARGE syndrome (pp. 317–326). San Diego, CA: Plural Publishing.

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324     CHARGE SYNDROME Hartshorne, T. S., & Cypher, A. D. (2004). Challenging behavior in CHARGE syn­ drome. Mental Health Aspects of Developmental Disabilities, 7(2), 41–52. Hartshorne, T. S., Grialou, T. L., & Parker, K. R. (2005). Autistic-like behavior in CHARGE syndrome. American Journal of Medical Genetics Part A, 133(3), 257–261. Hartshorne, T. S., Heussler, H. S., Dailor, A. N., Williams, G. L., Papadopopoulos, D., & Brandt, K. K. (2009). Sleep disturbances in CHARGE syndrome: Types and rela­ tionship with behavior and caregiver well-being. Developmental Medicine and Child Neurology, 51(2), 143–150. Hartshorne, T. S., Nicholas, J., Grialou, T. L., & Russ, J. M. (2007). Executive function in CHARGE syndrome. Child Neuropsychology, 13(4), 333–344. Imel, G. E., Hartshorne, T. S., Slavin, L. J., & Kanouse, S. K. (2020). Participation in and barriers to recreation participation in CHARGE syndrome. PALAESTRA, 34(1), 38–43. Johnson, J. E., Christie, J. F. & Wardle, F. (2005). Play, development, and early education. Boston, MA: Pearson Education. Kennedy-Behr, A., Rodger, S., & Mickan, S. (2013). A comparison of the play skills of preschool children with and without developmental coordination disorder. Occupational Therapy Journal of Research: Occupation, Participation, and Health, 33(4), 198–208. Lasserre, E., Vaivre-Douret, L., & Abadie, V. (2013). Psychomotor and cognitive impairments of children with CHARGE syndrome: Common and variable features. Child Neuropsychology, 19(5), 449–465. Linder, T. W. (1993). Transdisciplinary play-based assessment: A functional approach to working with young children (Rev. ed.). Baltimore, MD: Paul H. Brookes Publishing. McCarney, S. B. (1995). Adaptive Behavior Evaluation Scale: Home version technical manual. Revised. Columbia, MO: Hawthorne Educational Services. Petroff, J. G. (2001). National transition follow-up study of youth identified as deafblind: Parent perspectives (pp. 1–26). Monmouth, OR: NTAC. Salem-Hartshorne, N., Blake, K. D., & Hartshorne, J. K. (2011). Changes over the life cycle: Teenage years. In T. S. Hartshorne, M. A. Hefner, S. L. H. Davenport, & J. W. Thelin (Eds.), CHARGE syndrome (pp. 236–240). San Diego, CA: Plural Publishing. Salem-Hartshorne, N., & Jacob, S. (2005). Adaptive behavior in children with CHARGE syndrome. American Journal of Medical Genetics Part A, 133(3), 262–267. Stengle, L. J. (1996). Laying community foundations for our child with a disability: How to establish relationships that will support your child after you’re gone (pp. 217). Bethesda, MD: Woodbine House. Thelin, J. W., & Fussner, J. C. (2005) Factors related to the development of commu­ nication in CHARGE syndrome. American Journal of Medical Genetics Part A, 133(3), 282–290. Thompson, J. R., Bryant, B., Campbell, E. M., Craig, E. M., Hughes, C., & Rotholtz, D. A. (2004). Supports Intensity Scale. Silver Spring, MD: American Association on Men­ tal Retardation. Wachtel, L. E., Hartshorne, T. S., & Dailor, A. N. (2007). Psychiatric diagnoses and psychotropic medications in CHARGE syndrome: A pediatric survey. Journal of Developmental and Physical Disabilities, 19(5), 471–483.

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23.  Changes Over the Life Cycle       325 Wiener-Vacher, S. R., Amanou, L., Denise, P., Narcy, P., & Manach, Y. (1999). Vestib­ ular function in children with the CHARGE association. Archives of OtolaryngologyHead and Neck Surgery, 125(3), 342–347. Wulffaert, J., Scholte, E. M., Dijkxhoorn, Y. M., Bergman, J. E., van Ravenswaaij-Arts, C. M., & van Berckelaer-Onnes, I. A. (2009). Parenting stress in CHARGE syndrome and the relationship with child characteristics. Journal of Developmental and Physical Disabilities, 21(4), 301–313.

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PART IV

Language Development and Communication Systems in CHARGE Syndrome

I

n the introduction to this book, we used the phrase, “Communication, communication, communication.” Individuals with CHARGE syndrome have multisensory impairment. The loss experienced within each sensory system reduces input from the environment, impairing the ability of the child to explore and comprehend the world. The inability to smell may seem somewhat trivial until one considers that this is a major way to learn about the environment. Couple this with visual and auditory impairments and an unstable world due to vestibular and proprioceptive impairments, and the result can be significant isolation. Understanding the fundamentals of developing communication in this situation is challenging and imperative. Lack of communication skills can not only lead to mental health and behavioral complications but can also make it challenging to know when the person is in pain, stressed, or ill. This section provides the foundation for understanding the communication challenges in CHARGE and how to address them.

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CHAPTER 24

Communication: The Speech and Language Perspective LORI A. SWANSON

INTRODUCTION Published and/or formal research on communication skills in individuals with CHARGE syndrome is limited (Peltokorpi & Huttunen, 2008). Thus, the bulk of the information presented here is based on personal observations or anecdotal reports from other professionals and parents. At this stage in the development of the understanding of communication in CHARGE, the anecdotal information and parental reports constitute some of the best information available. This chapter focuses on modes of communication, factors affecting communication development, and finally, communication skills of individuals with CHARGE.

MODES OF COMMUNICATION Manual Signs Manual signs are often used with children with CHARGE. Because of their visual impairments, these children often require manual signs to be perceived 329

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tactually as well as visually. Although there is controversy, some believe signs should be delivered to the child in a “coactive” or “hand-under-hand” manner, where the child’s hands rest on top of the caregiver’s hands, which are forming the signs. Proponents of “coactive” signing believe the caregiver should sit behind the child so the child feels the signs in the same manner in which they will be formed. Another form of tactual signing is “interactive” signing, where the interactants sit face-to-face and sign hand-under-hand. Some tactile component in learning manual signs is critical for children with limited visual skills. It is also imperative that the signs be produced within the child’s limited visual field (see Chapter 2). One mother consistently signed approximately 6 inches in front of her son’s face. Although this child had very limited vision, he did imitate the manual signs modeled for him. His mother signed to him consistently during daily routines (e.g., changing diaper, meal times) in the sign equivalent of “mom chatter” done instinctually with an infant or toddler. This repetitive modeling of signs during daily routines is what the child needed to eventually acquire spontaneous use of signs. The mother’s input also allowed this child to interpret his environment, in that she provided signs for people, objects, and actions that he could not see or hear. Children with CHARGE sometimes produce manual signs in a simplified or idiosyncratic manner. Caregivers need to recognize, respond to, and reinforce these communication attempts (Figure 24–1). If these communication attempts go unnoticed, the child will likely go on to develop maladaptive behaviors to be noticed or to get their needs met. Making a video of the child’s particular expression of signs can assist caregivers in understanding the child.

Visual Symbols and Voice Output Communication Aids Two-dimensional visual symbols such as photographs, Picture Communication Symbols (  Johnson, 2001), and object symbols are used with some children with CHARGE. In one case report, a boy with CHARGE successfully used object symbols to express his wants (Lauger, Cornelius, & Keedy, 2005). Object symbols are a more direct avenue to symbolism than line drawings or manual signs because they are more concrete. In another study, 10 of 21 participants’ parents reported using visual symbols with their child (one used a voice output communication aid [VOCA]) to facilitate symbolic communication, but none of them reported using a visual system as the primary mode of communication (King, 2009) (see Chapter 27). This was an unexpected finding given the large number of participants who were presymbolic (8/21) or at the transitional level (7/21). T. S. Hartshorne and Russ (unpublished data) asked parents to identify their child’s communication skills and found that about 26% failed to use symbolic “words” to communicate (see Table 24–1) (as cited in T. S. Hartshorne & Hissong, 2014). There is clearly a need for visual symbols with this population.

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Figure 24–1.  This mother is trying to shape the sign for “bath.”

Table 24–1.  Communication Skills Identified by Parents Skill

N

Percent

Makes reactions or noises or behaviors that can be diffficult to interpret

20

16.1

Uses behaviors such as gestures, sounds, body movements

12

9.7

Uses single words, signs, picture symbols, or object symbols to represent basic needs

15

12.1

Uses some two- to five-word phrases and sentences using speech, signs, picture symbols, etc.

17

13.7

Uses verbal or sign language in complete sentences

59

47.6

Source: From Hartshorne, T. S., & Hissong, K. N. (2014). CHARGE syndrome: An introduction for speech-language pathologists. Perspectives on School-Based Issues, 15(2), 94–102. Used by permission.

331

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Teachers and speech-language pathologists may be hesitant to recommend the use of visual symbols because of the visual impairments. However, most children with CHARGE are capable of recognizing and using visual symbols, especially when presented at close range, within their usable visual field. The advantage of visual symbols over signs is that the child only needs to recognize and “point to” or “exchange” (as in picture exchange communication system [PECS]; Bondy & Frost, 2002) the symbol. In PECS, the child exchanges a graphic symbol or three-dimensional object symbol for an object. The use of manual signs is more complex because the sign must be first retrieved from memory and then produced. VOCAs are rarely used with children with CHARGE because of the nearly ubiquitous hearing impairments (Figure 24–2). In King’s investigation (2009), only 1 of 21 participants used a VOCA. It is possible that parents, teachers, and speech-language pathologists underestimate these children’s ability to use VOCAs. In addition, children with CHARGE are categorized as deafblind for educational purposes, and classrooms for deafblind children are likely to favor the use of signs as opposed to visual symbols and VOCAs. Our observation is that many parents of (and even many educators working with) children with CHARGE have marginal signing skills, which has also been found to be the case with parents of other children who are deaf (e.g., Strong &

Figure 24–2.  The use of voice output communication aids has several advantages.

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Prinz, 1997). One advantage of VOCAs is that they can be understood by the child’s parents as well as other interactants. A second advantage of VOCAs is that the child is using English for language production and is therefore more ready to become literate. Children who use American Sign Language (ASL) (or some other sign language system) must learn English as a second language to acquire literacy skills. Some children with CHARGE use ASL, while others use Signing Exact English (SEE), which is a manual form of English. One child with CHARGE in the Deafblind Program at Perkins School for the Blind started with an alphabet board and was then equipped with a voice output via IntelliTools, which she learned with ease. She is currently being upgraded to a more powerful VOCA and uses a computer with enlargements for reading and formulating simple sentences. Another teenager, Robert, was equipped with a light-tech speech-generating device (SGD) (Bashinski, 2015). He uses his SGD as part of a multimodal augmentative and alternative communication (AAC) system for his expressive communication needs. Children with CHARGE who have adequate hearing should be considered for VOCAs in order to fully participate in classroom activities, to be understood by unfamiliar listeners, and to allow the opportunity to more fully participate in literacy activities. Speech Approximately 40% of individuals with CHARGE use speech as their primary mode of communication (Thelin & Fussner, 2005). Significant hearing impairments are the primary barrier to speech. The frequent use of tracheostomies (approximately 30% of children with CHARGE have tracheostomies) also prevents this population from using speech, at least while the trach is in place. When a child has a tracheostomy stoma, that child is only able to make faint vocalizations. Once the tracheostomy stoma is removed, or a Passy-Muir valve is in place, oral communication becomes an option. When children with CHARGE use speech to communicate, it is typically intelligible to both familiar and unfamiliar listeners. Their speech, however, is often loud and over­ animated due to their hearing loss, poor pragmatic skills, and limited attention span. They are easily excited and often blurt out comments without restraint. In a survey study of 71 individuals with CHARGE, “only 3 children (4%) were capable of waiting for their turn to speak” (Souriau et al., 2005, p. 279). To our knowledge the Tadoma method has not been employed with children who have CHARGE but could be used to allow them to perceive speech tactually. In the Tadoma method, the child is allowed to touch the speaker’s lips using the thumb and to rest the fingers on the speaker’s face and laryngeal area. This method is important for children with low vision and limited residual hearing. It is questionable how many children with CHARGE would tolerate this method due to hypersensitivity to touch. Furthermore, only individuals familiar with the deafblind population are likely to feel comfortable with the Tadoma method and appreciate its value.

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Gestures and Vocalizations Assessment of prelinguistic communication is described by Bashinski in Chap­ ter 25, including valuable information on the development of gestures in children with CHARGE. In addition, a procedure for evaluating form (e.g., gestures) and function use is given in Chapter 26. In general, contact gestures that involve touching an object are developed prior to distal gesture. Analysis of gestures is useful in evaluating the child’s developmental level (Bruce, Mann, Jones, & Gavin, 2007; Crais, Watson, & Baranek, 2009). King (2009) examined the gestures and vocalizations used by 21 individuals with CHARGE. Findings indicated that gestures (e.g., give, show, reaching, contact pointing, distal pointing) and vocalizations (i.e., vocal productions of vowels and/or consonants) were used primarily by participants in the presymbolic stage of development, but participants in the transitional and symbolic stages also used them to express some intentional acts. Facial gestures are often compromised due to facial paralysis, which occurs in approximately half of all individuals with CHARGE (Blake, Hartshorne, Lawand, Dailor, & Thelin, 2008). The complete lack of facial expression in children with bilateral facial palsy makes it difficult for the child to convey emotion. Thelin and Swanson (2006) observed one child push the corners of her mouth upward to form a smile. She was observed to do this when a photograph was being taken. Idiosyncratic Behaviors Idiosyncratic behaviors are most frequently used by children with CHARGE who communicate at a presymbolic level. These children use unconventional behaviors rather than “symbols” to convey their needs. Some idiosyncratic behaviors may be considered challenging (kicking, head banging), and some subtle behaviors (slight movement of arm) may be difficult for others to recognize as communicative. Communication dictionaries created by family members and professionals working with a child can be extremely useful. The adults identify and describe the communication function for each of the child’s idiosyncratic behaviors. They decide which behaviors will be retained and those that will be replaced with more conventional behaviors (e.g., kicking replaced with sign for “more”). Stratton (2019) recommends the use of functional communication therapy to treat challenging behaviors. Total Communication Total communication (TC) involves the use of more than one mode of communication, often including voice, sign, gestures, pictures, and so on. TC is the most common form of communication among children with CHARGE

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(Thelin & Fussner, 2005), and many parents choose it as a way to communicate with their children even though the child may not yet use TC expressively. As children become more sophisticated in their use of language, the use of symbolic modes of communication increases (King, 2009). Children in the presymbolic stage of communication use idiosyncratic behaviors, gestures, and vocalizations. Children in the transitional stage of communication also use idiosyncratic behaviors, vocalizations, and gestures, but add manual signs and a limited number of spoken words to their repertoire. Those in the symbolic stage of communication continue to use the earlier developing forms but have functional use of signs and oral communication. Depending on the individual child, either manual signs or spoken words will become the primary mode of communication with the other serving as the secondary mode. Despite their apparent usefulness, visual symbols and VOCAs are not often used with this population in the public schools. They tend to be used only in settings where professionals are familiar with CHARGE. In summary, children with CHARGE use many different modes of communication. The speech-language pathologist should carefully select the modes in the child’s TC system. The ultimate goal is for children to communicate with all persons in their environment with minimal effort.

FACTORS AFFECTING LANGUAGE DEVELOPMENT Vision and Mobility Children with CHARGE typically are able to compensate for much of the visual impairments, resulting in visual functioning at higher than predicted levels (see Chapter 2). Nevertheless, the “communication bubble” for children experiencing CHARGE is nearly always restricted. The child’s “communication bubble” is the area in which the child’s vision and hearing are optimal for communicating. When signs are presented within the child’s “communication bubble” (Davenport, 2002), the child is able to interpret and imitate them. For children with limited mobility, caregivers need to be consistently mindful of the child’s restricted visual field. Caregivers must be in close proximity to the child as well as positioned at the best angle. For example, a child with a retinal coloboma will have no upper visual field (see Chapter 2) and may have poor visual acuity. Signs need to be presented to such a child down low (in the lap) and up close (Figure 24–3). If there is central vision loss, children use their peripheral vision and prefer the listener to be positioned at their right or left side. When being guided, they may prefer to have the guide on the side with the best peripheral vision. Thelin and Fussner (2005) used a parent questionnaire to determine factors correlated with symbolic language development. They found the ability to walk independently was directly correlated with symbolic language

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Figure 24–3.  Signing must occur in the visual bubble, close to the face.

development. Children who can position themselves and use their best visual field may be at an advantage. They are able to focus on the speaker’s face, manual signs, and/or object of attention which are crucial to joint referencing. The ability to pair a word with its referent is important for developing symbolic language skills. Unfortunately, children with CHARGE often have underdeveloped or absent semicircular canals, which can make mobility difficult due to balance problems (see Chapters 3, 5, and 7). However, the potential of these children to develop motor skills is underestimated. Most of these children with absent semicircular canals learn to walk and many even ride a bicycle. Mobility, therefore, should be an important consideration and priority for facilitating communication development. Hearing Loss Some type of bilateral hearing loss (sensorineural, conductive, mixed) is present in most, but not all, children with CHARGE (e.g., Deuce, Howard, Rose,

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& Fuggle, 2012; Edwards, Kileny & Van Riper, 2002). Thelin and Fussner (2005) found that children with CHARGE who have early successful amplification paired with good cognitive abilities have better language outcomes. The ability to make the best use of residual hearing is critical to later language development. Parents who find an audiologist familiar with children with CHARGE syndrome are more likely to obtain satisfactory results. Audiologic assessments, amplification, and follow-up are challenging with this population of children (see Chapter 3). Cochlear implants have recently become an option for children with CHARGE (see Chapter 8). The results of implants with deafblind children, including some with CHARGE, have been mixed (Birman, Brew, Gibson, & Elliot, 2015; Soper, 2006; three small studies cited by Stremel & Malloy, 2006, p. 3; Taylor, Stremel, & Bashinski, 2005; Trevisi, Ciorba, Aimoni, Bovo, & Martini, 2016). Children with CHARGE typically continue to rely on manual signs after they have been implanted. Implants appear to allow children to have more perception of environmental sounds and speech but, in many cases, not enough input to allow speech to develop. In a recent study, the child’s type of hearing loss appeared to determine language outcomes (Birman et al., 2015). Birman and colleagues studied 10 children with CHARGE who had cochlear implants. Language outcomes were determined by whether the profound hearing loss was congenital or progressive. Children with congenital hearing loss and CHARGE failed to use verbal language as their primary mode of communication. Most used sign as their primary mode. Those children with progressive hearing loss and CHARGE were able to maintain their use of verbal communication. The percentage of children with CHARGE who develop speech after implantation(s) will need further study. In a few cases, children with CHARGE did not appear to benefit from the cochlear implant until years after the surgery. It seems that their neurologic systems took an extended period of time to adjust to the implant. This anecdotal data should be verified with systematic research. Bone-anchored hearing aids (BAHAs) have been used to treat conductive hearing loss in children with CHARGE (see Figure 3–5). BAHAs are surgically implanted hearing aids that utilize bone conduction to carry sound to the cochlea. They are typically introduced at 9 to 10 years of age. Some children with CHARGE have benefitted from the improved hearing thresholds provided by BAHAs.

Tracheostomy Early communication development is often affected by prolonged use of a tracheostomy (https://www.asha.org/public/speech/disorders/tracheosto mies-or-ventilators/#impact; Abraham, 2003). Children with CHARGE have

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been known to have had a tracheostomy with the stoma left in place for 15 or more years. When the child first receives a tracheostomy, parents and pro­ fessionals do not know the length of time the stoma will be in place. Unfortunately, the child is only capable of producing a “whispered” voice when the tracheotomy is in place and needs to rely on an augmentative form of communication even if there is relatively little hearing loss. If the child is to use signs, the parents and educators must become fluent signers to allow their child’s language production skills to progress. In one case, a child with a tracheostomy stoma had fluent sign input because his mother used manual signs at her work. This rich input apparently allowed him to produce signs fluently as well. When his tracheostomy was removed, his transition from sign to oral communication was accomplished with ease. Use of manual signs allowed him to continue to develop expressive language skills while his tracheostomy tube was in place.

Early Language Stimulation The key to development of symbolic language in this population is early language stimulation. The frequent surgical procedures required by these children (typically 10 surgeries prior to age 3 years), however, often preclude early language intervention (Thelin & Swanson, 2006). Parents and professionals are so focused on the child’s fragile medical state that communication needs often go unnoticed. Although this is understandable, speech-language pathologists must find means to intervene during the child’s first three years of life (see https://firstwordsproject.com/resources/ for early intervention materials). A deafblind specialist in Minnesota who has a son with CHARGE encourages parents to develop communication systems with their children as soon as possible (Prouty, 2001, p. 26). She states that her son’s “communication” was first addressed when he was 2 months of age. He is currently fluent in ASL and literate in English. Children develop symbolic language early in part because of the increased input of multiple modes of communication early in their development (Figure 24–4). One mother was observed reading storybooks with her toddler during one of his tube feedings. The child used manual signs to spontaneously label items in the storybook. He also responded to his mother’s questions. Vocalizations were minimal due to a tracheostomy. The child’s rate of productions was 4.4 acts per minute throughout this interaction, which is almost equivalent to the rate of typically developing toddlers (five acts per minute) (Chapman, 2000, as cited in Paul, Norbury, & Goose, 2018). He produced a wide variety of signs and used language for many different purposes. When the first book was completed, the child signed “more book!” It is important to use books and other literacy-related items to facilitate language development, even

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Figure 24–4.  Child exploring a book.

if a child’s vision and hearing levels are unknown or low. Fifty-seven of 71 (80%) individuals with CHARGE were reported to “like books” (Souriau et al., 2005). Cognitive Skills Children with CHARGE display a range of cognitive skills (see Chapter 18), from above-normal to cognitively impaired. Given the multiple sensory impairments, it is impossible to assess the cognitive skills of children with CHARGE using standardized measures (N. Hartshorne, 2002b). It must be assumed from birth that cognitive skills are normal. These children are at risk for additional developmental delays if appropriate input is not provided. Children need rich sensory input to develop their cognitive skills. Early language

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stimulation in children with CHARGE is as essential to preventing cognitive delays (Davenport, 1999; Gregory, 2001), as it is in children living in poverty (Roseberry-McKibbin, 2001). Parent-Child Interactions Reda and Hartshorne (2008) found that 7 of 14 parents indicated that bonding with their child with CHARGE was different than with their other children (see Chapter 23). These parents stated that bonding was different due to emotions associated with the diagnosis of CHARGE, lack of physical contact, and other related issues. Compromised parent-child interactions are likely to negatively affect early communication development due to the lack of synchrony in the parent-child interaction, the lack of mutual enjoyment, and the decreased amount of parental-child input. The ability of medical intervention to limit the debilitating effects of sensory impairments and life-threatening illnesses is crucial. Less time spent on medical issues translates to more time available to focus on early language development. Parents and professionals must strive to provide as many typical language models and normal interactions starting from birth (or as early as possible) to promote typical language development. Culturally and Linguistically Diverse Backgrounds The population is diverse, and children with CHARGE may come from bilingual homes. There is no research involving children with CHARGE who are bilingual or even children who are Deafblind (Bowen & Correa-Torres, 2017). Bowen and Correa-Torres state that educational professionals need to be aware of the advantages of bilingualism and allow families to make communication choices that meet their needs. In conclusion, multiple factors appear to affect the communication skills of children with CHARGE, including sensory impairments (vision, hearing, smell, balance), lack of mobility, presence of a tracheostomy, limited early language stimulation, atypical parent-child bonding, compromised cognitive skills, and diverse backgrounds. Future research is needed to document the relative impact of each of these factors. To date, there is only one study (Thelin & Fussner, 2005) that examined factors related to development of symbolic language in individuals with CHARGE. These researchers employed a parent questionnaire and identified only three factors that were correlated with symbolic language development: adequate audiologic management, ability to walk, and language intervention prior to age 3 years. King (2009) also found that ability to walk and presence of language intervention correlated with her participants’ language skills. Audiologic management prior to age 3 years was not examined.

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COMMUNICATION SKILLS Prelinguistic Skills During the birth to 3-year-old period, most children with CHARGE do not proceed through the normal stages of prelinguistic development. Prelinguistic vocalizations and primitive gestures are delayed due to multiple factors, especially the numerous hospitalizations and medical procedures these children require. As previously stated, the typical baby with CHARGE has undergone 10 surgical procedures prior to age 3 years. Early vocalizations are often made difficult by tracheostomies. Furthermore, the presence and severity of audiologic and visual impairments are often unknown in these early stages. Certainly, some prelinguistic skills and primitive gestures will be produced, but the child will lag behind typically developing infants and toddlers (Brady & Bashinski, 2009).

Language Skills Language Comprehension The language comprehension skills of children with CHARGE typically exceed their language production skills. When given appropriate input, many are able to comprehend language at age-appropriate levels. Experience with one’s environment is a vital part of receptive language development, and children with CHARGE often lack that environmental input due to their visual, hearing, and other sensory impairments. Unfortunately, these children often have very limited access to language and the world around them due to health or safety concerns. Starting very early, these children must be provided with opportunities to explore objects and their environment tactually. Then, special accommodations must be made for students to gain world knowledge. In summary, these children’s language comprehension skills range from severely delayed to age appropriate depending on their ability, input, and experiences. Children who receive rich input (i.e., real-life experiences, multisensory input, language presented in a variety of modes) from early on tend to have higher language comprehension skills (Figure 24–5). A unique behavioral phenotype is believed to be part of CHARGE syndrome (see Chapter 28). As with the other features of CHARGE, the behavioral phenotype is more striking in some individuals than in others. They may have difficulty following directions and responding to questions. This diffi­culty is primarily due to their distractibility related to specific behavior traits (e.g., executive functioning deficits, attention deficit hyperactivity dis­­ order, obsessive-compulsive disorder). Development of these skills is facilitated when the child’s attention is attained and the message is given with

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Figure 24–5. Children need opportunities to explore the world.

supporting cues (e.g., visual cues, touch cues). In environments adapted to meet the special needs of children with CHARGE, behavior and comprehension improves dramatically (Brown, 2005). Special adaptations may include the addition of picture cues, object cues, and words printed in Braille. In the regular classroom, frequent comprehension checks, careful pacing of materials, and concept development are important supports for learning (Blaha, 2019). Behavioral issues may be so challenging that the evaluation of language skills may be difficult or compromised significantly. Language Production Approximately 60% of children with CHARGE develop symbolic language skills (Thelin, Steele, & King, 2008). Most of these children, however, do not produce their first words until the late childhood years. First words are often produced in the context of action-evoked social games (Bruce, 2005). Some school-age children and adolescents with CHARGE “catch up” on many of their language skills. They often have “functional” syntactic and semantic

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skills, but pragmatic skills continue to be delayed. During King’s investigation (2009), communication samples were collected during clinician-child interactions. Twenty-one individuals (aged 20 months to 20 years) participated in this investigation. One-third of these children were capable of producing multiword utterances using signs or speech. The mean length of utterance (MLU) for these children was short (mean: four words; range one to nine words). They were capable of producing grammatical morphemes (e.g., plural –s, regular past tense –ed, articles, auxiliary verbs) but displayed difficulty with verb tenses and subject-verb agreement (They is going/They are going). King’s findings are consistent as those cited in Hartshorne and Hissong (2014) who found that almost half of their participants used verbal or sign language in complete sentences according to parental report. They are also consistent with Dammeyer and Larsen (2016) who examined the language of 71 children (mean age 11.3 years) with congenital deafblindness using the Rowland Communication Matrix and found 42% used verbal communication (all modes) but with delay (single words up to conventional sentences) and 18% verbal communication (all modes) without delay (p. 218).

Box 24–1 Example Utterances From a Participant With Advanced Language: Chloe, 9 Years (E = Examiner, C = Child) E:  I kind of know about chapter themes, but would you kind of explain it so everybody else will know what it is? C: Um, you have to um um well here I’ll tell you one thing I learned from them brownie books well, here it is um well um you can make like well cards like. C:  Like you know how puzzle pieces are like cardboard and stuff? E: Uh-huh. C:  Like what you do is get a piece of construction paper cardboard. E: Yeah. C: And you what glue them together and on the construction side you write like Happy Birthday or Congratulations or something like that. E: Right. C: And you cut it out into pieces and you put it in an envelope and send it to that person.

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Examples from Trisha (17 years) E:  So, what happened when you took the baby home? C: Uh it woke me up at 4 o’clock one day and I had to figure out why it was crying and all that, you know. E:  Well, what was the problem that made it cry? C:  It was either have to feed it or change the diaper or. E:  Well, which one did you do? C:  I’d feed it first. E:  And did it quit crying after you finished? C:  Um, yeah like when it quit crying then I don’t have to feed again. Note: Chloe exhibited sentence formulation problems with frequent use of mazes (false starts, revisions). However, Chloe’s utterances did contain correct use of grammatical morphemes and some simple conjunctions and were 7.75 words in length. Trisha’s utterances also contained some false starts, but they were not as interfering as Chloe’s. Similarly, Trisha’s utterances contained grammatical morphemes, simple conjunctions, but were shorter in length (MLU in words = 5.85) than Chloe’s. Both of these children were beyond the stage of simple sentence construction.

The mean type-token ratio (TTR) for these children was 0.355 (range: 0.25 and 0.59). This indicates that children with CHARGE have restricted vocabularies. In King’s study (2009), the children were observed to use general, all-purpose (GAP) verbs (e.g., do, get) rather than specific verbs. They also lacked adjectives, which is not surprising given their visual and auditory deficits. Word-finding difficulties were also quite common. Dammeyer and Larsen (2016) also found restricted vocabularies in their 71 children (mean age 11.3 years) with congenital deafblindness. Approximately 20% of the participants had a vocabulary greater than 60 signs/words. However, the range of vocabulary words was from 0 to greater than 60. In summary, children with CHARGE are late in acquiring first words, and their profile of language development is protracted. The same is true of their motor skills. Caregivers need to continue to target language skills well into the teen years. These children are capable of acquiring language skills beyond normal critical periods set for language acquisition in typical children. Pragmatic Functions Children with limited communication skills often learn to be passive (van Dijk & de Kort, 2005). Their parents and teachers fail to give them opportunities

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to initiate. On the rare occasion that these children do initiate, their subtle and often peculiar initiation attempts often go unnoticed. As a result, these children only respond when questions are directed to them. In King’s study (2009), children with low communication skills were restricted to the use of earlier developing pragmatic functions (requesting objects and protesting) as opposed to more advanced functions (e.g., requesting clarification, making statements). They also had low rates of communication attempts. Children with CHARGE who have conversational language skills are typically quite outgoing. These children are capable of teasing, humor, arguing, resolving conflicts, and negotiating with others, as evidenced by their YouTube videos and their participation at the CHARGE family conferences. Some of these pragmatic skills are quite complex and only fully develop during the late school-age years in typically developing children. For example, one young adult with CHARGE is known to argue with his teachers about the answers to problems and tease them when he is correct. Similar to their typically developing peers, adolescents with CHARGE are interested in asking others on dates and experience the same pragmatic challenges as their typically developing cohorts. They often struggle with taking the perspective of others during conversations. Children with more advanced language skills continue to struggle with topic maintenance due to their attentional problems. They fail to respond contingently to the comments and questions of others. They also have difficulty maintaining a topic while generating personal narratives.

Box 24–2 Example Utterances From a Participant With Advanced Language: Kiley, 19 Years (E = Examiner, C = Child) E:  Yeah, and I hear you like hair and makeup and lipstick, is that true? C:  I had a prom and got makeup. E:  Prom, you went to the prom? C:  I had my hair cut. C:  I had a doctor’s appointment called orthodontist. E:  Orthodontist, for your teeth? C:  Yeah teeth appointment. C:  And Alexis had her hair done. E:  At the orthodontist, you get your hair done?

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C: No. C: Teeth. E:  You’re right, that was silly, wasn’t it. C:  Your teeth. E:  So where should I go to get my hair done? C:  Beauty shop. C:  I get my hair cut. E:  Hair cut. C:  A hair cut, it’s short like that, and . . . style and it’s short like that. Note: The examiner made the topic shift from dental appointment to hair appointment apparent to the child. The examiner refused to carry the burden of the conversation!

Social Interactions Early social communication skills are an important factor in predicting later verbal and nonverbal skills in young toddlers (Delehanty, Stronach, Guthrie, Slate, & Wetherby, 2018). Delehanty and colleagues examined 431 toddlers with and without autism spectrum disorder (ASD) at approximately 2 and 3 years of age. Social skills deficits at 2 years of age predicted verbal and nonverbal outcomes a year later (p. 12). Delays in early communication skills (e.g., eye gaze, gestures) may decrease the frequency of a child’s social interactions. These interactions are essential for the development of communication skills and must be provided early in children with suspected delays. This includes children with CHARGE syndrome, despite their medically fragile first three years of life. Children with CHARGE have immature social skills that correspond to their overall delayed development and sheltered lifestyles (e.g., Swanson, Hef­ ner, & Wilking, 2019). Caitlyn’s mother stated that “Social skills are among the most important for children, particularly a disabled child . . . . Yet these skills are often overlooked by doctors in the early years as being trivial compared with the severe medical problems these children face.” Caitlyn missed participation in many community activities and play dates due to medical problems (McMullen, 2001, p. 14). As a result of immature social skills, many children with CHARGE are too friendly and trusting of others. For example, children who know how to introduce themselves may want to do so to everyone they come across. They tend to use close, even inappropriate social distance when conversing due to their visual or hearing impairments. In contrast, other children with

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CHARGE are often anxious and reluctant to interact, perhaps as a result of their unusual behaviors (see Chapters 27 and 28; T. S. Hartshorne, Grialou, & Parker, 2005; Wachtel, Hartshorne, & Dailor, 2007). Children with CHARGE who have normal intelligence face an enormous “social” challenge. Bruce, Zatta, Gavin, and Stelzer (2016) showed that children (elementary schoolaged and adolescent) who are deafblind, including those with CHARGE, be­n­ efit from intervention involving direct instruction in social interactions. The adolescents improved social skills from videotape feedback and self-evaluation of dyadic interactions with the younger children. Children with CHARGE syndrome would probably benefit from social scripts, social stories, video modeling, and in vivo training (Schmittel, 2019). Since many of these individuals have difficulty forming friendships with typically developing peers, they rely on listservs, Facebook, and other electronic interactions to maintain friendships, often with other individuals with CHARGE. One mother stated that the social needs of individuals with CHARGE become more difficult to fulfill as they mature. During the early years, her daughter was included in social groups because she was cute. But during adolescence she was actively or passively excluded from social activities. It is important for parents to advocate for their child’s social needs to prevent boredom and loneliness. Similarly, N. Hartshorne (2002a) stated that inclusion was “worth it” for her son, Jacob. Without inclusion, Jacob would not have achieved many goals because he would not have had his Circle of Friends and other opportunities to achieve them (see Chapter 23).

LITERACY Though there are no formal data, middle school literacy is probably achieved by less than half of individuals with CHARGE. It may be important to note that physical development in CHARGE is often very significantly delayed (e.g., puberty may be reached at 20 years of age, see Chapters 14 and 23). During the early years, some delays in cognitive development are related to sensory impairment and delays in physical development. Among those who function at the highest levels, there is the ability to read and write—but rarely at age level. Many of those who have overcome the major challenges in learning to communicate often still have significant delays in reading and writing. Nevertheless, there are many individuals with CHARGE who are functioning as independent adults. For specific techniques to facilitate reading and writing in children who are deafblind, see Bruce and colleagues and Brum (Bruce & Conlon, 2005; Bruce, Nelson, Perez, Stutzman, & Barnhill, 2016; Bruce, Randall, & Birge, 2008; Brum, 2017). Bruce and colleagues discuss the use of daily schedules and a home-school journal to provide opportunities to discuss past events.

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They describe pairing books with real objects to allow for meaningful experiential-based literacy. Finally, “child-guided” instruction is presented as a means to keep the student active in the learning process. Brum (2017) discusses the use of AAC in literacy instruction. For nonspeaking children, AAC allows the child to interact with their communication partner during literacy activities. Literacy instruction promotes communication development when children discuss storybooks before, during, and after reading. It allows children to share information outside of the immediate environment. Children with CHARGE are often capable of a range of literacy activities. Over half of children with CHARGE are capable of reading and writing. The range of reading and writing skills is from single words, to simple sentences, to reading books for factual knowledge and pleasure. Among young adults with CHARGE, many are able to use computers and communicate online with the community of families who have children with CHARGE and with professionals interested in CHARGE. They use social media to communicate with their peers with CHARGE, to provide information and support to parents, and to seek advice from professionals located throughout the world. Many have their own websites and “blog” with others or are on Facebook. Children with CHARGE must be given the opportunity to develop literacy skills. From an early age, it should be assumed that they are capable of reading and writing. In a survey study (King, Schwarz, Steele, & Thelin, 2008), five of eight children who were at least 6 years old could read at least single words. Four of these five children (age 6 to 18 years) participated in regular education classrooms, while the remaining child attended a special needs prekindergarten classroom. The highest reading level among these five children was Grade 4. This child’s website indicated that in Grade 4 she participated in “most regular education curriculum with some modifications in math and language arts.” She reported that her best subject was spelling and that she enjoyed singing in the choir. She used total communication as a young child but now uses speech as her primary mode of communication. Many individuals with CHARGE (some of whom were mostly selfdiagnosed) have graduated from college, and several have advanced degrees, responsible jobs, and families. The achievement of these individuals underscores the necessity to not limit expectations. One mother recounts a story of her child with CHARGE at age 8 years (but small for his age, appearing more like 4 years). A lady asked her son if he would like her to read a book. Her son replied, “Thanks, but I’m quite able to decipher written language.” The mom states that the look on the woman’s face was priceless. At 17 years of age, this young man was attending regular education classes in high school. He does not receive any modifications other than preferential seating (sits close to teacher). He passed the California High School exit exam in English as a sophomore and the exit exam in math as a junior. He was on the high school honor roll and plans to attend college without special accommodations.

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CONCLUSION Children with CHARGE present with a wide range of communication skills and potential communication skills. Communication development is dramatically affected by the multiple sensory deficits (e.g., vision, hearing, balance). Because it is impossible to fully or accurately assess the potential of children with CHARGE, it must be assumed from birth that every child with CHARGE is capable of typical language and literacy skills. The ability to develop symbolic language appears to be related to vision and mobility, successful audiologic management, early language stimulation, cognitive skills, and parentchild interactions. Speech-language pathologists need to provide each child with modes of communication early in life, with frequent evaluations and modifications of the language programs used. Intensive language services using multiple modalities are essential to establishing symbolic communication. Continued speech-language services throughout the child’s protracted period of development are typically required to obtain and maintain age-appropriate communication and literacy skills.

ACKNOWLEDGMENTS I want to thank Michael Harris, Emily King Miller, Pamela Ryan, and James Thelin for their valuable contributions to this chapter. I am grateful to the numerous individuals with CHARGE and to their families who have taught me about this syndrome.

REFERENCES Abraham, S. S. (2003). Babies with tracheostomies: The challenge of providing specialized clinical care. ASHA Leader, 8(5), 4–26. Bashinski, S. M. (2015). Communication programming for learners with CHARGE syndrome: Augmenting comprehension and expression. Perspectives on Augmentative and Alternative Communication, 24(3), 86–93. Birman, C. S., Brew, J. A., Gibson, W. P. R., & Elliot, E. J. (2015). CHARGE syndrome and cochlear implantation: Difficulties and outcomes in the paediatric population. International Journal of Pediatric Otorhinolaryngology, 79(4), 487–492. Blaha, R. (2019). Meeting the needs of students with CHARGE syndrome with proficient communication skills in general education. Presentation at the 14th International CHARGE Syndrome Conference, Dallas, TX.

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350     CHARGE SYNDROME Blake, K. D., Hartshorne, T. S., Lawand, C., Dailor, A. N., & Thelin, J. W. (2008). Cranial nerve manifestations in CHARGE syndrome. American Journal of Medical Genetics Part A, 146(5), 585–592. Bondy, A., & Frost, L. (2002). The Picture Exchange Communication System training manual (2nd ed.). New Castle, DE: Pyramid Educational Consultants. Bowen, S. K., & Correa-Torres, S. M. (2017). Understanding the communication needs of culturally and linguistically diverse students who are deafblind. Perspectives of the ASHA Special Interest Groups, 2(12), 81–88. Brady, N., & Bashinski, S. M. (2009). Increased communication in children with complex communication needs. Research and Practice in Severe Disabilities, 33(1–2), 1–12. Brown, D. (2005). CHARGE syndrome “behaviors”: Challenges or adaptations? American Journal of Medical Genetics Part A, 133(3), 268–272. Bruce, S. M. (2005). The impact of congenital deafblindness on the struggle to symbolism. International Journal of Disability, Development and Education, 52(3), 233–251. Bruce, S. M., & Conlon, K. (2005). Colby’s daily journal: A school-home effort to promote communication development. TEACHING Exceptional Children Plus, 2(1), n1. Bruce, S. M., Mann, A., Jones, C., & Gavin, M. (2007). Gestures expressed by children who are congenitally deafblind: Topography, rate, and function. Journal of Visual Impairment and Blindness, 101(10), 637–652. Bruce, S. M., Nelson, C., Perez, A., Stutzman, B., & Barnhill, B. A. (2016). The state of research on communication and literacy in deafblindness. American Annals of the Deaf, 161(4), 424–443. Bruce, S., Randall, A., & Birge, B. (2008). Colby’s growth to language and literacy: The achievements of a child who is congenitally deafblind. TEACHING Exceptional Children Plus, 5(2), 2–12. Bruce, S. M., Zatta, M. C., Gavin, M., & Stelzer, S. (2016). Socialization and self-determination in different-age dyads of students who are deafblind. Journal of Visual Impairment and Blindness, 110(3), 149–161. Brum, C. (2017). AAC supporting literacy instruction for individuals with deafblindness. Perspectives of the ASHA Special Interest Groups, 2(12), 98–106. Crais, E. R., Watson, L. R., & Baranek, G. T. (2009). Use of gesture development in profiling children’s prelinguistic communication skills. American Journal of Speech-Language Pathology, 18(1), 95–108. Dammeyer, J., & Larsen, F. A. (2016). Communication and language profiles of children with congenital deafblindness. British Journal of Visual Impairment, 34(3), 214–224. Davenport, S. L. H. (1999). Influence of sensory loss on development. In M. Hefner & S. L. H. Davenport (Eds.), CHARGE syndrome: A management manual for parents (section III-6). Buffalo Grove, IL: CHARGE Syndrome Foundation. Davenport, S. L. H. (2002). Influence of sensory loss on development: The communication bubble. In M. Hefner & S. L. H. Davenport (Eds.), CHARGE syndrome: A management manual for parents (version 2.1, section IV-2C). Buffalo Grove, IL: CHARGE Syndrome Foundation. Delehanty, A. D., Stronach, S., Guthrie, W., Slate, E., & Wetherby, A. M. (2018). Verbal and nonverbal outcomes of toddlers with and without autism spectrum disor-

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24.  Communication: The Speech and Language Perspective    351 der, language delay, and global developmental delay. Autism and Developmental Language Impairments, 3, 1–19. Deuce, G., Howard, S., Rose, S., & Fuggle, C. (2012). A study of CHARGE syndrome in the UK. British Journal of Visual Impairment, 30(2), 91–100. Edwards, B. M., Kileny, P. R., & Van Riper, L. A. (2002). CHARGE syndrome: A window of opportunity for audiologic intervention. Pediatrics, 110(1), 119–126. Gregory, B. B. (2001). Physical therapy and occupational therapy in CHARGE syndrome. In M. Hefner & S. L. H. Davenport (Eds.), CHARGE syndrome: A management manual for parents (version 2.1, section IV-6C). Buffalo Grove, IL: CHARGE Syndrome Foundation. Hartshorne, N. (2002a). It sounds nice, but is inclusion really worth it? Deafblind Perspectives, 9(2), 12–13. Hartshorne, N. (2002b). Assessment of children with CHARGE. In M. Hefner & S. L. H. Davenport (Eds.), CHARGE syndrome: A management manual for parents (version 2.1, section IV-5A). Buffalo Grove, IL: CHARGE Syndrome Foundation. Hartshorne, T. S., Grialou, T. L., & Parker, K. R. (2005). Autistic-like behavior in CHARGE syndrome. American Journal of Medical Genetics Part A, 133(3), 257–261. Hartshorne, T. S., & Hissong, K. N. (2014). CHARGE syndrome: An introduction for speech-language pathologists. Perspectives on School-Based Issues, 15(2), 94–102. Johnson, R. M. (2001). The picture communication symbols. Solana Beach, CA: Mayer-Johnson. King, E. A. (2009). Communication rate, forms, and functions in CHARGE syndrome. [Unpublished master’s thesis]. University of Tennessee, Knoxville. King, E., Schwarz, I., Steele, N., & Thelin, J. (2008, July 11–12). [Responses to literacy survey collected at Tennessee-South Carolina CHARGE Family Weekend]. Unpublished raw data. Lauger, K., Cornelius, N., & Keedy, W. (2005). Behavioral features of CHARGE syndrome: Parents’ perspectives of three children with CHARGE syndrome. American Journal of Medical Genetics Part A, 133(3), 291–299. McMullen, J. (2001). CHARGE stories: Caitlyn—A week in the life. In M. Hefner & S. L. H. Davenport (Eds.), CHARGE syndrome: A management manual for parents (version 2.1, section I-D). Buffalo Grove, IL: CHARGE Syndrome Foundation. Paul, R., Norbury, C., & Goose, C. (2018). Language disorders from infancy through adolescence: Listening, speaking, reading, writing, and communicating (5th ed.). St. Louis, MO: Elsevier. Peltokorpi, S., & Huttunen, K. (2008). Communication in the early stage of language development in children with CHARGE syndrome. British Journal of Visual Impairment, 26(1), 24–49. Prouty, S. (2001). CHARGE stories: My son’s influence on my life. In M. Hefner & S. L. H. Davenport (Eds.), CHARGE syndrome: A management manual for parents (version 2.1, section I-D). Buffalo Grove, IL: CHARGE Syndrome Foundation. Reda, N. M., & Hartshorne,T. S. (2008).Attachment, bonding, and parental stress in CHARGE syndrome. Mental Health Aspects of Developmental Disabilities, 11(1), 1–12. Roseberry-McKibbin, C. (2001). Serving children from the culture of poverty: Practical strategies for speech-language pathologists. ASHA Leader, 6(20), 4–17. Schmittel, M. (2019, August). Promoting social skill development in children with CHARGE. Presentation at the 14th International CHARGE Syndrome Conference, Dallas, TX.

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352     CHARGE SYNDROME Soper, J. (2006). Deafblind people’s experiences of cochlear implantation. British Journal of Visual Impairment, 24(1), 19–29. Souriau, J., Gimenes, M., Blouin, C., Benbrik, I., Benbrik, E., Churakowskyi, A., & Churakowskyi, B. (2005). CHARGE syndrome: Developmental and behavioural data. American Journal of Medical Genetics Part A, 133(3), 278–281. Stratton, K. (2019, August). I wish they could tell me what they need: Increasing communication through behavior. Presentation at the 14th International CHARGE Syndrome Conference, Dallas, TX. Stremel, K., & Malloy, P. (2006). Cochlear implants for young children who are deafblind. Deafblind Perspectives, 13(2), 1–5. Strong, M., & Prinz, P. M. (1997). A study of the relationship between American Sign Language and English literacy. Journal of Deaf Studies and Deaf Education, 2(1), 37–46. Swanson, L. A., Hefner, M., & Wilking, J. (2019, August). Unique pattern of social skills in individuals with CHARGE syndrome. Poster presentation at the 14th International CHARGE Syndrome Conference, Dallas, TX. Taylor, E., Stremel, K., & Bashinski, S. M. (2005). Outcomes for children who are deafblind after cochlear implantation. OSEP Steppingstones of Technology, Grant #H327A050079. Thelin, J. W., & Fussner, J. C. (2005). Factors related to the development of communication in CHARGE syndrome. American Journal of Medical Genetics Part A, 133(3), 282–290. Thelin, J. S., Steele, N. K., & King, E. A. (2008). CHARGE syndrome: Developing communication in children with multi-sensory deficits [Webinar PowerPoint slides]. Retrieved from http://www.asha.org/eweb/OLSDynamicPage.aspx?Webcode=ols details&title=CHARGE Thelin, J. W., & Swanson, L. A. (2006). CHARGE syndrome. ASHA Leader, 11(14), 6–7. Trevisi, P., Ciorba, A., Aimoni, C., Bovo, R., & Martini, A. (2016). Outcomes of longterm audiological rehabilitation in CHARGE syndrome. ACTA Otorhinolaryngologica Italica, 36(3), 206–214. van Dijk, J. P. M., & de Kort, A. (2005). Reducing challenging behaviors and fostering efficient learning of children with CHARGE syndrome. American Journal of Medical Genetics Part A, 133(3), 273–277. Wachtel, L. E., Hartshorne, T. S., & Dailor, A. N. (2007). Psychiatric diagnoses and psychotropic medications in CHARGE syndrome: A pediatric survey. Journal of Developmental and Physical Disabilities, 19(5), 471–483.

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CHAPTER 25

Prelinguistic Communication SUSAN M. BASHINSKI

INTRODUCTION The communication skills of individuals who have CHARGE syndrome (CS) range from prelinguistic (i.e., presymbolic), preintentional abilities to symbolic, intentional communication skills. Though communication profiles vary tre­­ mendously from individual to individual, it is generally accepted that devel­ opment of both receptive and expressive communication abilities is delayed, in at least some areas, in all persons who experience CS (Peltokorpi & Hut­­ tunen, 2008; Slavin & Hartshorne, 2019). Professionals who work with indi­ viduals who have CS are advised to recognize the potential communicative value of all overt behaviors. Parents/guardians of individuals with CS frequently report noncompliant behavior as communication. A variety of strategies and tools must be utilized to reliably assess and improve the very diverse commu­ nication abilities of individuals with CS. Only limited research that specifically describes the communication skills of individuals with CHARGE has been published in the extant literature (Bash­ inski, 2015a; Peltokorpi & Huttunen, 2008; Smith, Smith, & Blake, 2010). As noted in Chapter 24, it is estimated that approximately 40% of individuals with CS will never develop symbolic communication skills. Many individuals with CS struggle to acquire conventional language skills and continue to rely pri­­ marily on prelinguistic and/or gestural communication forms throughout their 353

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lifetimes. The majority of individuals with CS continue to develop new commu­ nication skills beyond the period usually considered to be critical for typical language development. Many individuals with CS who do acquire symbolic communication skills also sometimes engage in ritualistic or repetitive expres­ sions and/or require lengthier periods of time to process language (Bruce, Luckner, & Ferrell, 2018). Identification and understanding of critical elements of prelinguistic com­ mu­nication, as well as robust assessment and instructional strategies for address­­ ing each of these elements, are essential for family members of individuals with CHARGE and the professionals who provide services for them.

CHALLENGES IN ASSESSING PRELINGUISTIC COMMUNICATION SKILLS All individuals are entitled to “communicate using their chosen method” and deserve to have their own, idiosyncratic (i.e., nonconventional) communica­ tion “understood and heeded by others” (TASH, 2000). The Communication Bill of Rights, authored by the National Joint Committee for the Communica­ tion Needs of Persons with Severe Disabilities ( NJC), states that “All people with a disability of any extent or severity have a basic right to affect, through com­ munication, the conditions of their existence.” The NJC further itemizes 15 fundamental communication rights, which include “The right to access inter­ ventions and supports that improve communication” (Brady et al., 2016). The literature regarding the full developmental progression from presym­­ bolic and preintentional skills to symbolic, intentional communication abilities continues to emerge, but very little research specifically regarding emerging communication in individuals with CHARGE exists. However, evidence-based assessment practices regarding the communication skills of individuals with multiple disabilities or deafblindness due to etiologies other than CS can be meaningfully applied in assessment and instruction with individuals with CS. A rich, comprehensive understanding of the specific prelinguistic com­­mu­ nication skills demonstrated by an individual with CHARGE can be gleaned from variations of informal and observational assessment procedures and in­­ struments (Chen, Rowland, Stillman, & Mar, 2009), including video recording (Dammeyer, 2014), as opposed to formal assessment tools. Data from these assessments are critical to the collaborative team (including the individual’s family), to inform them of the instructional strategies most likely to be effective in improving the individual’s receptive and expressive communication skills. Managing the physical environment, especially background noise and light­ ing conditions, is critical when assessing an individual with CHARGE (Ferrell, Bruce, & Luckner, 2014). The assessment setting should be adjusted in accor­ dance with the ability to attend and sensory skills of the individual with CS.

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Persons conducting the assessment should be prepared to use physical contact, movement, and vestibular activities as necessary to gain and maintain the indi­ vidual’s trust and engagement.

ESSENTIAL ELEMENTS TO ASSESS WHEN EVALUATING PRELINGUISTIC COMMUNICATION SKILLS A comprehensive assessment of communication skills must address each of the following elements of prelinguistic communication: n Symbolization ability n Level of development of intentionality n Rate of communication n Level of gestural attainment

Level of Symbolization Development Symbolization ability, the ability to understand that one thing (e.g., gesture, pic­ ture, word, sign) can meaningfully refer to something else (e.g., actual object, person, activity), evolves over time. The ability to use symbols makes it possi­ ble for an individual to communicate about persons, places, or things beyond those in the “here” and “now.” The ability of individuals with combined hear­ ing and vision loss (deafblindness), including those with CHARGE, to use abstract symbols is a very difficult achievement—one that many of these individuals will never attain (Bashinski, Braddock, Neal, & Heithaus, 2017; Bruce, 2005b). The ability to use abstract symbols develops on a continuum and can be improved with intervention and therapy. Expansion of presymbolic skills can have a significant impact on the ability to communicate effectively and on qual­ ity of life. Advanced presymbolic forms have been demonstrated to be signif­ icant predictors of more positive language outcomes, not only in children with significant support needs (Halle & Meadan, 2007) but also in children who develop typically ( Watt, Wetherby, & Shumway, 2006). As described in Figure 25–1, symbolization typically develops along a continuum, from signals that can only be described as presymbolic (non­ symbolic); through transitional, concrete symbolic forms; to fully symbolic, abstract forms. Though individuals with CHARGE often do not follow the sequence of typical development, their communication skills do unfold in a manner consistent with the general levels of symbolization development de­ scribed here (Bashinski, 2015a; Bruce, 2005b).

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Figure 25–1.  Continuum of symbolization development. 356

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25. Prelinguistic Communication      357

When assessing an individual’s prelinguistic communication, it is critically important to attempt to discern the level at which the majority of the individ­ ual’s communications fall on the symbolization continuum. As the majority of presymbolic communication forms are idiosyncratic (that is, unconventional and unique to the individual), understanding and interpretation of the commu­ nication can be difficult (Bashinski, 2015a). “It is vital that behavior always (italics supplied) be interpreted as communication by educators, especially prior to the development of more formal communication methods” (Slavin & Hartshorne, 2019, p. 3). It should be noted that if idiosyncratic behaviors do not constitute the entire body of the individual’s communicative behaviors, then the level of the individual’s symbolization ability should be recorded as somewhat beyond the purely nonsymbolic stage. Helpful Hints Additional questions to help an assessor determine the level of symbolization include the following: n Can the meaning of the communication be discerned somewhat

independently of context, or is the context essential to understanding? n What is the magnitude of the partner’s role in a communicative

interaction? n Does the magnitude of the partner’s role vary from situation to sit­

uation or partner to partner? n Does the individual respond to specific touch cues (tactile con­

tacts made directly on the individual’s body in a consistent manner in order to communicate a particular meaning)? n How does the individual respond to specific object cues used con­

sistently to provide a concrete way of referring to a person, place, thing, or activity? n To what degree are the individual’s expressive communication forms

conventional? As part of a prelinguistic communication assessment, the evaluator is encouraged to use an instrument such as the form/function charts presented in Chapter 26 (which describe a wide variety of common prelinguistic ele­ ments) to record the communications. In addition to noting the specific forms/ functions used by a prelinguis­tic communicator, the assessor is advised to record the  frequency of use of individual signals, as well as their apparent or pos­­sible meanings, in order to yield the most reliable picture of the symbol­ ization ability. Although time consuming and intensive, such evaluations may

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be the only way to accurately and thoroughly create a plan to build on those abilities with future instruction and therapy. Level of Development of Communicative Intentionality Communicative intentionality involves two very different, though related, abil­­ ities: “intentionality” and “communicative intentionality.” Neither can be directly witnessed; each must be inferred from observable behaviors. Behavior is con­­ sidered to be “intentional” if the person is in control of it—that is, if the behav­ ior is not reflexive. The individual is knowingly engaging in the behavior because of some self-satisfying result it produces. The activity is not pursued with a deliberate mental plan for obtaining a desired goal from another person. In contrast, behavior is considered to demonstrate communicative inten­ tionality if the individual performing the behavior “has an awareness of or a mental plan for a desired goal as well as the means to obtain the goal” (Siegel & Wetherby, 2006, p. 411). Applied to communicative behavior, this means that in order for behavior to be intentionally communicative, an individual must deliberately employ that behavior for the purpose of affecting another person. As with the ability to use symbols, the ability to communicate intention­ ally emerges along a continuum. Intentionality can be nurtured; expansion of an individual’s preintentional skills can significantly impact the individual’s ability to communicate effectively. As described in Figure 25–2, intentionality begins with a nonintentional stage in which the individual’s behavior is nei­ ther intentional nor intentionally communicative. For all intents and purposes, communication at this level is one-way communication; the individual’s part­ ner must interpret her behavior as communicative (Loncke, 2014). The non­ intentional stage is followed by a transitional stage, in which the individual’s overt behavior is intentional, though not intentionally communicative (emerg­ ing intentional), and can be understood as meaningful in a given context. Individuals whose communication occurs primarily at this stage exhibit behav­ ior that is under their control but reflects only a general state of being. In the final stage, an individual’s behavior is both intentional and intentionally communicative. As with symbolization abilities, it is generally believed that intentional­ ity skills of individuals with CHARGE unfold in a manner consistent with the overall levels of intentionality development described here (Brady & Bashin­ ski, 2007; Siegel & Wetherby, 2006). The ability to demonstrate intentionally communicative behavior is an achievement some individuals with CHARGE may never attain (Bashinski, 2015a). For some individuals with CS, intentional communication represents only a minority of their expressive communications. It is important to repeat, however, that communication abilities of persons with CS range from very early, nonintentional skills to a high level of purpose­ ful, intentional conversational language.

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359

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Figure 25–2.  Continuum of communicative Intentionality development.

360     CHARGE SYNDROME

When assessing prelinguistic communication, it is essential to attempt to determine the level of intentionality development at which the individual dem­ onstrates a majority of skills. Assessing the level of intentionality in an individ­­ ual with CHARGE may be complicated by the presence of multiple sensory deficits and other disabilities. Peltokorpi and Huttunen (2008) observed that the expressions of individuals with CS with more complex communication needs were qualitatively different from those of persons with less significant disabilities. Helpful Hints Assessors are encouraged to watch for the use of any of the following as behav­ ioral evidence of intentional communication (Bruce & Bashinski, 2017; Luck­ ner, Bruce, & Ferrell, 2016): n Persistence of a behavior until a response is received n Termination of a behavior when a response is received n Display of satisfaction when a goal is met or dissatisfaction when

it is not n Change in the form or quality of a behavior until a goal is met n Establishment of joint attention, alternation of attention between

the person with whom the individual is interacting and the goal n Reluctance to initiate any behavior

As with the assessment of an individual’s level of symbolization, an evalu­ ator completing a prelinguistic assessment with an individual with CHARGE is encouraged to use the form/function charts included in Chapter 26, or a similar instrument. This process, though time consuming and intensive, will inform plans to build on those abilities through future instruction.

Communication Rate Communication rate can be defined as the number of times an individual communicates over a specified period of time, often the number of commu­ nication acts per minute. The most challenging aspect associated with the determination of the communication rate is agreement on exactly what con­­ stitutes an “intentional communicative act (ICA)” ( Warren et al., 2006). Some investigators determine what constitutes an ICA solely on the basis of whether an individual initiates the communication with a partner or responds to the partner. “Previous definitions of ICAs focus more on incidences when the child is the initiator of the interaction, even though most children with severe

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disabilities respond intentionally more often than they initiate” (Bruce & Var­ gas, 2007, p. 302). Another criterion sometimes utilized in the determination of an ICA is whether or not the individual’s signal was directed to another person (i.e., a partner), as opposed to being only object-directed behavior (Brady & Bashinski, 2008). These various measures are described because each of them might legitimately be used by an evaluator, who is attempting to complete a comprehensive assessment with an individual with CS for the purposes of determining the rate of communication. Rowland (1990) published the first peer-reviewed piece on intentional com­ municative acts of learners with deafblindness in the classroom. She reported that learners’ nonconventional forms and partners’ failure to recognize these forms contributed to the low communication rates the learners with deafblind­ ness apparently demonstrated. In general, individuals with disabilities (includ­ ing those with CHARGE who demonstrate primarily prelinguistic skills) have lower rates of intentional communication than do their typically developing peers. When the communication rate for individuals who primarily commu­ nicate at the prelinguistic level is calculated by including both ICAs that are responses to partner-initiated communication and self-initiations, the calcu­ lated communication rate is higher (Brady & Bashinski, 2008; Bruce & Vargas, 2007). Luckner, Bruce, and Ferrell (2016) noted that “there is a limited, although rapidly growing, body of evidence that adult communication partners can improve the responsiveness, turn-taking . . . and other communication skills of children who are deafblind with systematic demonstrations and coaching” (p. 233), thus positively impacting communication rate. Communication rate has been suggested as a significant predictor of more advanced linguistic skills (Brady, Marquis, Fleming, & McLean, 2004; Bruce & Vargas, 2007). Though at first it might seem to be an oversimplification, research does suggest that an individual’s rate of communication is positively correlated with the level of com­ municative skill development. As demonstrated in Brady and Bashinski’s Adapted Prelinguistic Milieu Teaching (A-PMT) study (2008), the communication rate can be increased in children who communicate primarily at the prelinguistic level. The nine par­ ticipants in this study all had complex communication needs and multiple dis­­ abilities, including some with CHARGE. At the outset, the overall mean rate of communication was 0.61 ICA/minute, per 45-minute session. Following indi­­vidual intervention sessions, during which the participants were taught to use conventional gestures and/or vocalizations directed to a communica­ tion partner, the overall mean rate of communication increased to 1.92 ICA/ minute. Helpful Hints When assessing an individual’s prelinguistic communication, the evaluator is encouraged to record the occurrence of any potential ICAs. In addition,

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prelinguistic assessment of an individual with CHARGE should include the number of the individual’s communicative responses and initiations, as well as observations regarding whether or not the communicative acts were di­ rected toward an object or a communication partner. Level of Gestural Development For communication purposes, gestures are defined as actions produced pri­ marily with the fingers, hands, and arms, but can include facial features, head movements, and full body movements (Iverson & Thal, 1998). Gestures are influenced by culture and are often dependent on context. When assessing the gestural communication of individuals with CHARGE, it is important to remember that culture is defined not only by race/ethnicity but also geo­ graphic loca­­tion and membership in various communities (e.g., school, orga­ nization). Gestures can also be created/selected by communication partners. For individuals with CS who demonstrate skills primarily at the prelin­ guistic level of communication, potential communicative signals might also include changes in the individual’s level of alertness or affect, a variety of body movements, or idiosyncratic gestures (i.e., unique to the individual) or body posturing (Sigafoos et al., 2000). Throughout the prelinguistic period of typical development, as young chil­ dren socially interact with caregivers and learn about the world around them, a number of conventional gestural forms emerge prior to the first use of words. Children’s use of nonspeech communication (e.g., crying, smiling, pointing, reaching) contributes to the formation of a strong foundation for later com­ munication and language development (Loncke, 2014). Some conventional gestures used by children who are typically develop­ ing might be difficult for individuals with CHARGE to execute because of their motor skill differences, including raising arms to be picked up (sloping shoulders), extending a flat palm (difficulty with total supination of wrist), and pointing (difficulty isolating index finger). Other gestures (e.g., give, reach, clap, nod head) may be easier for them to produce. Meaningful approxima­ tions need to be recognized for what they are. Delayed gestural development may indicate delayed language develop­ ment. Because of its crucial role as a foundation for symbolic, linguistic com­ munication, the use of gesture has very strong potential value for individuals with CS who demonstrate transitional prelinguistic skills. Over time, as ges­ ture production becomes more synchronized with directed vocalizations and eye gaze, these behaviors typically become both more symbolic and more intentionally communicative. Iverson and Thal (1998) described early gestural forms in three catego­ ries: deictic (often dependent on context) gestures that single out an object, person, or action from other possible ones; representational (or descriptive

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and conventional) gestures; and pointing gestures (i.e., contact or distal). Early occurring deictic gestures are often produced by touching the object or communication partner; these may be dependent on context and/or tied to routines (e.g., pushing away a nonpreferred object). Around 8 to 14 months of age, children demonstrating typical development produce more advanced deictic gesture types such as giving, showing, and/or requesting (reaching) (Bates, Benigni, Bretheron, Camaioni, & Volterra, 1979). Representational gestures typically depict some feature of a referent in order to convey a spe­ cific meaning (e.g., opening and closing hand to request favorite squishy toy). Pointing gestures can take many forms, but these are generally described as either a contact gesture or a distal gesture. A contact gesture involves touch or contact with the communication partner. Individuals with visual impairment or deafblindness are more likely to continue to use contact gestures beyond the typical developmental period (Bruce, Mann, Jones, & Gavin, 2007). In contrast, a distal gesture establishes reference with a communication partner to a person or item of interest that is some distance away (pointing at something). For individuals with deafblind­ ness, this notion of distancing often must be directly taught (Bruce, 2005a). Progression in an individual’s ability to functionally use distal (i.e., conven­ tional, noncontact) gestures is a key marker related to the development of symbolic communication skills (Bruce, 2005a) and should be noted in any comprehensive assessment of the prelinguistic communication abilities of an individual with CHARGE. Although much of the recent research into the development of gestural abilities and its significance comes from the field of autism spectrum disor­ ders, this work has provided new understanding regarding the importance of assessing—and instructing—individuals with CHARGE in the functional use of gestures. As shown in Table 25–1, the FIRST WORDS Project (2014) has documented that young children typically add approximately two new com­ municative gestures/month to their expressive communication repertoires be­ tween 9 and 16 months of age, functionally using approximately 16 communi­ cative gestures by age 16 months. Exhibition of conventional gestures in typically developing children was shown to contribute significantly to positive receptive language outcomes ( Watt et al., 2006). Level of gesture attainment has also been demonstrated to be a strong predictor of more advanced linguistic skills in children with significant disabilities and severe communication delay (Brady et al., 2004). Appropriate, functional use of gestures serves as a bridge to symbolic com­ munication (Bruce & Bashinski, 2017; Loncke, 2014). The use of gestures in combination with vocalizations is a critical marker for later language develop­ ment (Brady & Bashinski, 2008).

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364     CHARGE SYNDROME Table 25–1.  Sixteen Gestures by Sixteen Months (16by16™) Approximate Age (in months)

Gesture Description

9

• Give •  Shake head (to indicate “no”)

10

• Reach •  Raise arms

11

• Show • Wave

12

•  Point with open hand •  Tap with fingers together

13

• Clap •  Blow a kiss

14

•  Point with index finger •  “Shhh” gesture

15

•  Head nod •  Thumbs up •  Hand up (to indicate “wait”)

16

• At least one other symbolic gesture (e.g., high five, shoulder shrug [i.e., “I don’t know”] universal peace sign)

Source: Adapted from Wetherby, A. M. (2014, April). Engaging families of children with developmental disabilities in early detection, early intervention, and prevention. Keynote presentation at the National Academy of Sciences’ Workshop on “Strategies for Scaling Tested and Effective Family-Focused Preventive Interventions to Promote Children’s Cognitive, Affective, and Behavioral Health.”

Helpful Hints When assessing an individual’s use of gestures, the evaluator is encouraged to determine whether gestures are functionally used for the purposes of the following: n Behavioral regulation (e.g., request action or object, protest) n Social interaction (e.g., request a social routine, request comfort,

greet, call, show off, request permission) n Joint attention (e.g., request information, comment about an object,

action, or person) (Beukelman & Mirenda, 2013). Only through recording this variety of information can it be assured that a ges­ tural assessment presents a comprehensive picture of the prelin­ guistic abilities of an individual with CHARGE.

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ESSENTIAL METHODS TO BE UTILIZED IN ASSESSMENT OF PRELINGUISTIC COMMUNICATION As noted previously, reliance on standardized assessments is not appropriate with individuals with sensory disabilities, which includes the vast majority of individuals with CHARGE, particularly those with primarily prelinguistic communication skills (Bruce et al., 2018). Informal assessment of the four key categories discussed earlier is the recommended approach for evaluating an individual’s prelinguistic communication abilities. For additional suggestions on conducting such assessments, see Brady et al. (2016), Bruce and Bashinski (2017), and Chen et al. (2009).

Utilizing Informal Assessment Strategies To conduct a meaningful communication assessment for an individual with CHARGE, a collaborative team should utilize the following three techniques to gather information in the four categories: n Direct observation of the individual n Interviews with family members and educational staff n “Situational” or “structured” probes

When utilized in combination, these informal assessment strategies can yield a comprehensive, reliable profile of an individual’s functional commu­ nication skills. This approach is especially helpful in the case of individuals with primarily prelinguistic communicative behaviors. Direct Observation Direct observational assessment of individuals with CHARGE in their usual, familiar environments is likely to yield the most reliable information regarding prelinguistic communication skills (Thelin, Steele, & King, 2008). The asses­ sor should observe the individual in both home and school environments rather than in artificial or unfamiliar environments, such as a testing room. Such direct observations facilitate evaluation of communication skills beyond the information collected via interviews with family members and professionals who provide services. Helpful Hints.  When observing an individual with CHARGE, it is critical the assessor make note of all of the environmental conditions in which the obser­ vation is completed. Since most children with CS have vision and/or hearing

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366     CHARGE SYNDROME

losses, it is particularly important to ensure adequate lighting (e.g., reduction of glare, reduction of fluorescent lights, increase of contrast in materials) and minimization of background/environmental noise (e.g. music, outside con­ versations, heat or AC blowers). If the observation is completed under lessthan-optimal sensory conditions, observational data should be interpreted very cautiously. See Chapters 5, 6, and 7 for additional information on the inter­ action between the environment and vestibular issues on children with CS. Interviews With Family and Educational Team Members Interviews should be conducted with the individual’s family members and key service providers to ensure that information from persons familiar with the individual will be included in the communication assessment. It is impor­ tant to gather information from a variety of people who interact with the individual in different settings or contexts. Loncke (2014) suggests that inter­ views include the collection of information regarding the individual’s unique needs, interests, and preferences, as knowledge of these can inform future communication instruction in a meaningful way. Helpful Hints.  Two of the most frequently recommended interview instru­ ments appropriate for use when evaluating the prelinguistic communication skills of an individual with CHARGE are the Inventory of Potential Commu­ nicative Acts (Sigafoos, Arthur-Kelly, & Butterfield, 2006) and the Communi­ cation Matrix (Rowland, 2008). The Inventory of Potential Communicative Acts (IPCA) is appropriate for assessing individuals with physical disabilities and severe communication challenges, including deafblindness. The inventory consists of 53 open-ended questions, categorized according to 10 distinct functions, yielding a graphic pro­file of results. The IPCA acknowledges the communicative potential of pre­­ linguistic communicative skills, with the goal of gathering descriptive infor­ mation regarding any behavior the individual might use for any communicative purpose, for example, how the child responds to a favorite item being taken away or how the child seeks comfort. The IPCA encompasses many of the idiosyncratic, presymbolic communicative behaviors demonstrated by many individuals with CS. The Communication Matrix is an instrument originally designed in 1990, revised in 1996, and reformatted as a web-based application (Rowland, 2008). It is available on the Internet, free of charge (http://www.communication matrix.org/ ). This tool was designed primarily for use by family members of individuals with significant communication disabilities; CHARGE is one of the specific diagnostic categories included in this instrument. The web-based appli­­ cation supports the notion of emerging skills. It yields a one-page summary profile, including seven levels of communication—from the earliest prein­ tentional behavior through abstract, symbolic communication. The Commu­ nication Matrix is designed to specifically profile an individual’s current com­

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municative skills and provide a framework for developing communication goals and tracking progress. Other instruments that have been used to assess prelinguistic skills include the (a) MacArthur-Bates Communicative Development Inventories (Fenson et al., 2007), particularly the “Words and Gestures” form, and the (b) Test for Early Communication and Emerging Language (TECEL) (Huer & Miller, 2011), “which is one of the few tests especially developed to assess receptive and expressive skills of nonspeaking children” (Loncke, 2014, p. 190) from infancy to 4 years. Situational/Structured Probes to Assess Communication Skills A situational or structured probe is a tool utilized to assess communication skills in a specific context through the systematic introduction or manipula­ tion of elements in that context. Such probes offer the assessor the possibi­lity to create opportunities for the individual to demonstrate a specific commu­ ni­cation skill or use a particular skill repeatedly. Structured probes are help­­ ful as a supplement to the information regarding a child’s prelinguistic skills acquired through interviews. They can also provide information regarding communication skills the assessor was unable to detect/assess through nonin­ trusive, direct observation. For example, the assessor might interact directly with an individual using a light box with brightly colored, translucent materi­ als. The light box is turned on as they approach, so the lights are within the child’s visual field but out of reach. The assessor waits to see what the child will do. Brady and Bashinski (2008) found they collected most reliable obser­ vational data with children with CHARGE in structured situations (as opposed to free time) with two or fewer children, and/or during routines that involved movement or gross motor activities rather than desk tasks. Possible uses of situational/structured probes are suggested in the following section, which introduces the strategies associated with the Tri-Focus Framework (Bruce & Bashinski, 2017).

METHODS FOR USE IN PRELINGUISTIC COMMUNICATION INSTRUCTION The Tri-Focus Framework for communicative intervention evolved from an original work by Siegel-Causey and Guess (1989), one of the first publications to delve deeply into an analysis of communication interactions between learn­ ers with multiple disabilities, including deafblindness, who communicated primarily without the use of symbols and their communication partners. The Tri-Focus Framework includes the learner, the communication partner, and the communication environment (i.e., context). “This framework supported

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368     CHARGE SYNDROME

the field to move beyond assessment and intervention focused on just the in­ dividual with severe disability to consider the impact of the environment and communication partners with corresponding implications for intervention” (Bruce & Bashinski, 2017, p. 164). The Tri-Focus Framework incorporates five instructional strategies. Col­ laborative teams working with individuals with CHARGE who communicate primarily through prelinguistic means are encouraged to implement the fol­ lowing strategies concurrently in learners’ educational programs to facilitate development of communication skills: n Enhance partner sensitivity n Augment input n Utilize routines n Increase communication opportunities n Modify the communication environment

Each of these strategies is briefly discussed in the text, with specifics in accom­ panying tables that delineate the following: n Key points from the Tri-Focus Framework for the respective strategy n Ways in which interprofessional, collaborative teaming facilitates

successful implementation of the strategy n A few examples of the strategy, as it might be implemented with

an individual who has CS Collectively, the five Tri-Focus strategies incorporate elements targeted to improve an individual’s symbolization ability, advance intentionality skills, increase communication rate, and develop understanding and use of both re­ ceptive and expressive communicative gestures. Enhancing Communication Partners’ Sensitivity to Expressive Signals Enhancing partners’ sensitivity means helping any communication partners to be aware of and receptive to the subtle cues of an individual—because these cues might constitute potential communication signals. Consistent responses to potential communication signals facilitate growth toward symbolic, conven­ tional, intentional communication. Janssen, Riksen-Walraven, and van Dijk (2003) were among the first to identify appropriate and inappropriate behaviors of adult partners in terms of facilitating communication development of children with deafblindness (including CHARGE) who communicated primarily without the use of sym­

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25. Prelinguistic Communication      369

bols. They demonstrated the ability to improve adult partners’ responsiveness and increase sensitivity to learners’ potential communicative signals. Similarly, Damen, Janssen, Ruijssenaars, and Schuengel (2017) demonstrated that inter­­ action partners can successfully scaffold the child’s use of more conventional, formal communication skills. Helpful Hints All recommended techniques associated with the Tri-Focus “enhancing part­ ners’ sensitivity” strategy target changing the behavior and skills of the com­ munication partner directly, and thereby indirectly affecting the child’s com­ munication skills. Partners can be taught to observe for the following: n A shift in the child’s attention (e.g., from one person to another,

from a person to an object, etc.) n Reluctance to initiate a behavior/resistance to prompting n Persistence with a particular behavior (e.g., continuing to grab a

person’s arm or tug on an object, until some response is achieved) n Change in the form/rate/intensity/quality of a behavior (e.g., recast­

ing a whine into a scream, re-forming hand tapping behavior into kicking) n Termination of a behavior (i.e., contingent on a change made or

desired item/action achieved) n Display of dissatisfaction

Luckner and colleagues (2016) point out that many individuals with deaf­ blindness often use their hands to initiate communication because they are unable to establish joint attention through use of their voice or eyes. In many instances, simply increasing the “wait time” a communication partner allows for a response results in an increase of communication signals from the learner. Johnson and Parker (2013) demonstrated that extending wait time to 15 seconds or more correlated with an increase in intentional com­ municative acts by all three of their study participants. Communication partners can improve communication skills and respon­ siveness of prelinguistic individuals with CHARGE through training and ongo­ ing coaching (Bruce & Bashinski, 2017; Damen et al., 2017; Luckner et al., 2016). If all members of a collaborative team, including an child’s family, were to consistently implement a nonsymbolic signal dictionary (which specifies the meaning of key particular behaviors—potential communicative signals the child performs), along with standard responses (what every communication partner would say/sign and do each time the individual performs that par­ ticular behavior), expansion of the child’s expressive communication skills is very likely to result (Bashinski, 2015b) (Table 25–2).

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• Training improves communication partner responsiveness and prompting practices (Douglas, 2012; Janssen et al., 2003; Janssen et al., 2012; Kent-Walsh & McNaughton, 2005; Sack & McLean, 1997)

• Partners benefit from knowledge and awareness of ways in which overt behavior might function as expressive communication (Siegel-Causey & Bashinski, 1997)

• Partners need to respond contingently to potential expressions (Johnson et al., 2004)

• Perlocutionary communicators’ efforts are dependent on responsive partners (Damen et al., 2015; Douglas, 2012; Johnson et al., 2004; Sack & McLean, 1997)

• Preparation of partners is critical to the communication development of individuals with CHARGE syndrome who communicate primarily without the use of symbols (Bashinski, 2014b; Bashinski, 2018; Bashinski & Bruce, 2014; SiegelCausey & Bashinski, 1997)

Key Points from the Tri-Focus Framework

• A signal dictionary may serve as a guide for future professional development with new team members, especially at points of transition

• An expressive signal dictionary supports collaborative team members to recognize subtle forms of potential communication signals and brainstorm appropriate responses for each

• Team members must exchange information to understand how a learner with CHARGE syndrome expresses across partners and how she might express uniquely with specific partners

• Input from the family and all team members is necessary to adequately support communication across all environments

• Professionals with different areas of expertise must collaborate to ensure they are meeting the complex, diverse needs of a learner with CHARGE syndrome

Ways in Which Interprofessional Teaming Facilitates Implementation

Table 25–2.  Enhancing Communication Partners’ Sensitivity to Expressive Signals

2. Individual with CHARGE reaches in the general direction of an object (with any partner, in any setting) a.  IF individual may have the object, let her hold it/use it and SAY/SIGN, “You want the ___.” b.  IF learner may NOT handle the object, assist her to explore it for 15 to 20 seconds and SAY/SIGN, “I’ll help you see the _____.”

1. Individual with CHARGE syndrome leans her upper body in the direction of the parent, physical therapist, speechlanguage pathologist, occupational therapist, or teacher who has entered her space   In response, all team members should: GIVE the learner attention by making eye contact and providing touch cue to L forearm and SAY/SIGN, “You want to talk . . .”

Examples

371

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• Collaborative teaming should increase the consistency of all partners’ responses to early communicators

Note: For the full references, contact the author. Source: Adapted from Bruce, S. M., & Bashinski, S. M. (2017). The Trifocus Framework and interprofessional collaborative practice in severe disabilities. American Journal of Speech-Language Pathology, 26, 166. Reprinted with permission from ASHA.

• An expressive signal dictionary unites a team’s support for a learner’s unconventional, idiosyncratic, and nonsymbolic expressions (Bashinski & Bruce, 2014)

• Parents reliably report a variety of specific communicative forms used by their children (Stephenson & Dowrick, 2005; Wilder & Granlund, 2015)

• Through modeling, adult partners demonstrate the ability to “attune” (i.e., what they “do in the moment”) to a learner (Ferrell et al., 2014; Janssen et al., 2011)

• Sensitivity requires partners to expect the learner will communicate and to recognize idiosyncratic behaviors as potentially communicative (Sack & McLean, 1997; Slavin & Hartshorne, 2019)

372     CHARGE SYNDROME

Augmenting Input to Facilitate Growth of Receptive Communication Augmenting input is defined as enhancing meaning and facilitating retention by the communication partner pairing speech with other forms (i.e., modes) of communication. All communication with individuals who demonstrate primarily prelinguistic abilities should be multimodal—that is, should involve more than verbal/sign input. By communicating with more than simply speech/ manual sign, communication partners facilitate development of comprehen­ sion skills. The “State of Research on Communication and Literacy in Deaf­ blindness,” reported that research regarding communication in individuals with deafblindness focused almost exclusively on the increase of expressive com­ munication skills (Bruce, Nelson, Perez, Stutzman, & Barnhill, 2016). It is critical, however, that instructional programming for learners with CHARGE address both receptive and expressive communication development. The second TriFocus strategy, augmenting input, ensures this approach. Two of the more well-researched strategies for augmenting input involve the use of touch cues and object cues. A touch cue consists of tactile contact, made in a consistent manner directly on the body of the person with CS, for the purpose of supporting comprehension of the partner’s intent and message being communicated. Every touch cue should have a specific, consistent mean­ ing and be paired with speech/sign. Many touch cues are used to alert the child that something is going to happen. Team members should carefully consider the child’s preferences when selecting both the type of and placement for a touch cue. Touch cues require relatively low cognitive demand yet support the ability to learn anticipation of what is going to happen next. Many individuals with CHARGE rely on others to meet a variety of their physical needs on a daily basis (e.g., tube feeding, suctioning). Providing the individual with a unique touch cue prior to initiating any care routine offers a respectful approach before beginning to act on her body. Another common use of touch cues is to identify the presence of a potential communication partner. Taken a step further, touch cues may also be customized as personal identifiers for key persons with whom the individual with CS interacts fre­ quently. For example, a kiss could be used as a family greeting, but a kiss on the cheek communicates, “This is Mom”; one on the nose, “This is Dad”; and one on the top of the head, “This is Grandpa.” An object cue is defined as a whole object, or part of an object, that is used to refer to a person, place, thing, or activity. Its purpose is to provide a con­ crete means of supporting conversational interaction and facilitating recep­ tive communication development. To yield maximum effect, an object cue should represent the item/activity for which it stands in a way that reflects the experiences the individual with CHARGE has had with that item/activity. Bruce and colleagues (2016) found that high iconicity of tangible symbols/ object cues (i.e., the object cue having a close resemblance to what it is used

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to represent) was a critical element for its understanding by an individual who communicates primarily without the use of abstract symbols. Object cues should be selected with a particular individual’s motor and sensory abilities in mind, as she will be guided to explore the object and process its features. Objects/partial objects used as cues should be mounted on some sort of background material to help the individual distinguish when an object is just that, an object, versus when it is used as a representation referring to a person, place, thing, or activity (Bruce, Trief, & Cascella, 2011). Object cues may also be effectively utilized in the daily schedule to facilitate the individual’s ability to anticipate the next activity (van Dijk & Gage, 2019). Object cues may be used alone or in combination with touch cues. Helpful Hints Through their work with Project SALUTE (Successful Adaptations for Learning to Use Touch Effectively), Chen, Downing, Minor, and Rodriguez-Gil (2005) clearly demonstrated that education professionals and family members could learn to more effectively implement both touch cues and object cues with indi­­ viduals who could benefit from such levels of support (see http://www.proj ectsalute.net/ ). Their website provides a number of resources that collabora­ tive team members can use to improve their own skills for supporting indi­ viduals’ multimodal communication development. Members of an individual’s team, including family members, are encour­ aged to consistently implement an augmented input dictionary for the indi­ vidual. An augmented input dictionary should specify the touch or object cue utilized to communicate the meaning of each particular task/activity, what every communication partner would say/sign and do each time the cue is pre­ sented, and finally the observable response that is expected from the individ­ ual to each cue. By improving their own communication skills by using touch and object cues, partners can facilitate improvement in the receptive commu­ nication skills of individuals at the prelinguistic level (Table 25–3).

Utilizing Routines In the context of communication development, a routine is defined as a related series of activities organized into a predictable format. Consistent implemen­ tation of routines across an individual’s day serves to organize her world—and to assist her to feel safe and experience less anxiety (a common characteristic of individuals with CHARGE; see Chapter 27). Another key purpose for the use of routines with an individual with CS is to help her learn to meaningfully anticipate upcoming events/activities. Routines that are targeted provide an individual with necessary supports for learning and promote communication development. Structured routines may be developed for personal care, home

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• Gestures provide effective augmented comprehension support for all communicators (Bates, 1976; Bates et al., 1979; Brady et al., 2004; Brady & Bashinski, 2008; Crais et al., 2004; Loncke, 2014; Sigafoos & Mirenda, 2002)

• Pairing spoken/signed language with other forms enhances the learner’s comprehension and increases her own expressive communication (Romski et al., 2010) as well as possibly facilitates the ability to master the meaning of more abstract symbols in the future (Romski et al., 1994)

• Augmenting speech input with other modes does not interfere with the development of the learner’s own expressive communication (Romski et al., 2010)

• Communication partners should use more than one type of augmented cue, along with speech/sign, in any given interaction with early communicators (Bashinski & Bruce, 2014)

Key Points From the Tri-Focus Framework

• A receptive, augmented input dictionary may serve as a guide for future professional development with new team members

• A receptive, augmented input dictionary supports collaborative teams to facilitate a learner’s comprehension, through consistent use of multimodal cues and identification of various representational cues

• Collaborative teaming is critical to ensuring appropriate enlargement and positioning of visual images, enhancement of auditory stimuli, and appropriate types of tactile/textured representations utilized with learner

• The speech-language pathologist should lead a learner’s educational team to the appropriate level of iconic or concrete representations for augmenting a learner’s communication system and generating appropriate “next steps”

Ways in Which Interprofessional Teaming Facilitates Implementation

Table 25–3.  Augmenting Input to Facilitate Receptive Communication Growth

2. TOUCH CUE: Tap the back of the learner’s hand (in which the object is held) with partner’s index finger, then extend arm and hand, palm up, as a target for learner

Every time any team member needs the learner with CHARGE syndrome to release any object she is holding:

1. OBJECT CUE: Rustle a piece of nylon fabric, then put it in the learner’s R hand, closing her fingers around it, and begin formal scripted routine for partial participation in putting on (nylon) jacket a.  SAY: “Coat on, so we can go out.” b. To confirm learner’s comprehension, EXPECT to see some demonstration of awareness or excitement, through laughter or a repeated up and down motion.

Every time any team member assists the learner with CHARGE to put on her jacket:

Examples

375

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• Collaborative teamwork should increase the consistency of all partners’ input provided for early communicators

a. SAY: “Give me the ________.” b. To confirm learner’s comprehension, EXPECT her to voluntarily release grasp on the object, giving it to the partner.

Note: For the full references, contact the author. Source: Adapted from Bruce, S. M., & Bashinski, S. M. (2017). The Trifocus Framework and interprofessional collaborative practice in severe disabilities. American Journal of Speech-Language Pathology, 26, 176. Reprinted with permission from ASHA.

• A receptive, augmented input dictionary unites a team’s efforts for increasing a learner’s receptive communication skills (Bashinski & Bruce, 2014)

• Object representations should be mounted to facilitate the learner’s differentiation between the object itself and use of the object as a communication cue (Bruce et al., 2011; Rowland & Schweigert, 2000; Trief et al., 2013)

• Object cues should each have specific salient qualities that correspond with the learner’s experiences with the referent, and be used consistently to facilitate comprehension development (Chen et al., 2005)

• Using touch cues shows respect to a learner before acting on her body, increasing the learner’s emotional security and allowing her to “get herself ready” for an impending movement (Chen & Downing, 2006; Chen et al., 2005)

• Touch cues should each have a discrete meaning, be paired with speech/sign, and be used consistently to facilitate communication comprehension development (Chen & Downing, 2006)

376     CHARGE SYNDROME

chores, daily school events, or specifically targeted Individualized Education Program goals (Downing, Hanreddy, & Peckham-Hardin, 2015). Routines, as suggested in the Tri-Focus Framework, should n Take place within the natural context/environments (Ferrell et al.,

2014) n Involve a central (i.e., shared) focus n Include turn-taking opportunities for the individual and a commu­

nication partner n Embed repetitive practice opportunities n Rely on predictability n Include a small number of steps n Evolve through clear transition points

Touch and/or object cues may be incorporated in routines, as could spe­­ cification of the amount of wait time an individual is likely to need to make a response. For maximum effectiveness, every routine should consist of four primary components (Doyle, 2008): n A clear initiation point n The learner’s preparation/readiness for the activity n The core of the activity itself that the learner is to perform n A well-demarcated termination point

When a routine is planned for an individual with CS, the same number of steps should be implemented in the same order, each and every time the activity takes place. This consistency and predictability should particularly facil­ itate the individual’s receptive communication development (Bruce & Bashin­­ ski, 2017). By sequencing regularly occurring experiences throughout an individu­ al’s day, a collaborative team is providing a greater number of opportunities for the individual with CHARGE to meaningfully participate. If all members of a collaborative team keep the child informed about all the various routines that will be implemented throughout the day, this should increase participation and facilitate greater communication skill development. All members of an individual’s team, including family members, are encouraged to consistently implement similar routines in the same manner, to the greatest degree possi­ ble (Table 25–4).

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• Daily routines of sequenced activities build familiarity and security for the learner, through their predictability (Beukelman & Mirenda, 2013)

• Providing a structured arrangement of representations, to correspond with the order of activities in a daily routine, helps build anticipation (Blaha, 2001; Rowland & Schweigert, 2000)

• Familiar, recurring activities facilitate the learner’s development of anticipation and the ability to predict what is to come next (Siegel-Causey & Guess, 1989)

• Routines should be established for both within-activity and between-activity structures (Rowland & Schweigert, 1989)

• Routines should be embedded within activities and provided in authentic environmental contexts (Ferrell et al., 2014)

• Consistent implementation of routines enhances receptive communication development (Damen et al., 2017; SiegelCausey & Bashinski, 1997)

Key Points From the Tri-Focus Framework

Table 25–4.  Utilizing Routines

• Consistent utilization of routines at home and at school across the learner’s day, with all team members sharing expectations, will best facilitate communication development

• Collaboration, with input from all related services providers, helps a team identify the response a learner can be expected to make to actively participate at each step

• Family members’ input will inform the school-based team members regarding functional daily living activities for incorporation in the learner’s routines

• Working together, team members can identify all the activities in which a learner predictably participates, and determine a logical sequence of steps for each

• Team planning, which includes family members, is essential to the identification of routines appropriate for implementation in both home and school settings

Ways in Which Interprofessional Teaming Facilitates Implementation

continues 

2. Each time the learner with CHARGE syndrome is to be assisted out of her wheelchair, all team members should: a. Assist learner to partially participate in engaging the chair’s brake b. Use touch cues to move both learner’s shoulders up, while saying, “Up” c. Wait for the learner to scoot her bottom forward and relax tone

1. Each time the learner with CHARGE syndrome is to receive a tube feeding, all team members should: a. Assist her to pick up a piece of tubing from her calendar box b. Hold it while in transit to the area where all materials will be assembled c. Hand the tubing to the adult d. Receive a touch cue to place both hands on shirttail (to lift shirt) e. Engage in activity with adult, while feeding proceeds [MAY be variable] f. Assist with taking tubing to sink, following conclusion of feeding

Examples

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Ways in Which Interprofessional Teaming Facilitates Implementation d. Lift the learner’s body with one arm under buttocks and one arm behind upper back e. Carry the learner to destination, while she is facing left

Examples

Note: For the full references, contact the author. Source: Adapted from Bruce, S. M., & Bashinski, S. M. (2017). The Trifocus Framework and interprofessional collaborative practice in severe disabilities. American Journal of Speech-Language Pathology, 26, 169. Reprinted with permission from ASHA.

• Family members have used routines-based intervention to reduce the frustration of challenging care routines and increase their child’s participation with the family (Woods & Goldstein, 2003)

• Optimally effective routines empower a learner to actually use skills she has already developed (Cascella & McNamara, 2005) and facilitate independent participation (Milbourne & Campbell, 2007)

• Each routine should incorporate movement, opportunities for communication, social interaction, and choice making (Doyle, 2008)

• Touch cues, object cues, and wait time specifications should be included for each step of each routine (Bashinski & Bruce, 2014)

• Routines should be adapted in a least intrusive to most intrusive hierarchy (Milbourne & Campbell, 2007)

• Each routine should include four components: clear initiation, preparation, core activity, and clear termination (Doyle, 2008)

• Routines should be repetitive, include turntaking opportunities, and focus on naturally occurring daily activities (Downing et al., 2015; Siegel-Causey & Bashinski, 1997)

Key Points From the Tri-Focus Framework

Table 25–4.  continued

25. Prelinguistic Communication      379

Increasing Opportunities for Communication In order to increase meaningful communication opportunities and elicit an individual’s prelinguistic communicative skills, the availability of a responsive partner is essential. Communication partners need to not only actively partic­ ipate with individuals with CHARGE who demonstrate primarily prelinguistic skills, they also need to create additional opportunities and facilitate favorable situations for communication participation. Through eye contact (if the indi­ vidual with CS has sufficient residual vision), close physical proximity, or actual physical contact, the partner needs to make the individual aware that he is available and waiting for her to communicate (Downing et al., 2015). Individ­ uals who communicate primarily without the use of symbols frequently need additional time to process information and respond; partners might need to increase wait time (Bashinski & Bruce, 2014). An individual’s opportunities to communicate in daily routines and activ­ ities can be dramatically enhanced by incorporating the “Principle of Partial Participation” (Ferguson & Baumgart, 1991). This principle suggests that an individual does not have to be able to complete the entirety of an activity inde­­ pendently to participate meaningfully. If an individual can actively engage in only a single element of a routine or activity, that engagement is still valuable and can offer fertile ground for communicative interaction. For example, if a child with CS requires tube feeding and has severe motor limitations, she could still meaningfully participate by handing a piece of the required equipment from her lap or lifting her shirt to expose the site for the care provider. Strategies for eliciting functional communication (i.e., increasing the oppor­ tunity for expressive communication) from individuals with limited repertoires (each of which requires some environmental engineering) include the following: n Use of communicative temptations: surprise the individual with an

unexpected object or present an unwanted/nonpreferred object n Missing item strategy: omit an object required in a well-known

routine n Interrupted behavior chain: pause briefly in a well-known routine

Choices A different approach for increasing opportunities for communication is by offering choices to the individual. “It is critical to distinguish between a learner’s mere participation in choice-making routines and making choices” (Bruce & Bashinski, 2017, p. 170). Meaningful choices can only be made when the entire choice-making process is accessible, the options are familiar to the individual and she prefers one option over others, the representations of the options are understood, and the individual has a clear indicating response.

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380     CHARGE SYNDROME

One very important aspect of learning about making choices is determin­ ing which choices the individual with CHARGE may make (e.g., when to get up in the morning, the order in which required tasks are to be completed) and which choices, for whatever reason, may only be made by others (e.g., when to go to bed at night, the specific work tasks that must be completed). Document the choices that can safely be left to the learner’s discretion on a choice map. A different approach to meaningful choice making and increasing the number of communication opportunities involves expanding the variety of choices the individual is typically offered during a school day or evening at home. The choice diversity model (Brown, Belz, Corsi, & Wenig, 1993) sug­ gests that collaborative teams might increase opportunities for natural com­ munication by allowing/encouraging learners to choose: by whom to sit for a meal, when to do something within a specified period of time, in which posi­ tion to engage in a favored activity, what to eat/wear, and/or when to decide an activity needs to end. If all members of a collaborative team were to implement even some of these strategies with an individual with CHARGE throughout the day, the practice should facilitate communication skill development (Table 25–5). Bot­ tom line: communication partners should not make choices for an individual that she can learn to make for herself.

Modifying the Communication Environment This final strategy in the Tri-Focus Framework incorporates the natural envi­ ronment as the context for communicative interaction. The communication environment can generally be described as the physical environment in which the individual is placed, plus the social environment (i.e., the potential commu­ nicative partners) (Bashinski, 1995). When considering aspects of the physical environment that might need to be modified for an individual with CHARGE in order to create a context that facilitates the most efficacious communica­ tion programming, it is essential to first consider visual and auditory aspects (since nearly all individuals with this condition experience single or dual sensory loss) (see Chapters 2 and 3). Primary visual considerations include the following: n Lighting (e.g., natural versus artificial, targeted versus secondary,

brightness) n Glare n Contrast n Colors, especially for individuals with diagnosed cortical vision

impairment

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381

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• If a learner does not respond to natural cues to communicate after sufficient “wait time,” the partner needs to provide the least intrusive prompt (Downing et al., 2015)

• A learner’s awareness that a partner is awaiting a response is critical to taking advantage of a communication opportunity (Downing et al., 2015)

• Improving physical proximity to potential communication partners effectively increases communicative opportunities (Downing et al., 2015)

• Determination of the amount of time each learner requires to process information and respond is critical (Johnson & Parker, 2013)

• Presentation of “communication temptations” increases both a learner’s communication rate and range of communication intents (Wetherby & Prizant, 1989)

Key Points From the Tri-Focus Framework

• Collaborative team planning is essential to identifying appropriate points at which to “interrupt” the learner’s performance, as well as the specific communicative response desired from her

• Working together, team members can develop a plan to generalize use of a particular strategy for creating opportunities throughout all communication environments

• Every communication partner is in a position to increase the learner’s opportunities for meaningful communication

• Collaborative planning is essential to coordinate various team members’ efforts to invite and consistently support the learner’s communication

Ways in Which Interprofessional Teaming Facilitates Implementation

Table 25–5.  Increasing Opportunities for Communication

continues

3. When first initiating choice-making skills, offer only two items—one highly preferred by the learner with CHARGE and one disliked; regardless of what the learner “chooses”; however, all team members should honor the choice the learner makes (i.e., even if some team members believe the learner did not intend that choice)

2. Instead of filling a learner’s glass with a preferred drink, provide only one or two small sips, creating the opportunity for the learner with CHARGE syndrome to signal/gesture to ask for more of that particular drink.

1. Instead of presenting a learner with CHARGE syndrome with a constructed visual/tactile schedule for the school day (or the speech/physical therapy session), involve the learner in creating the order in which she will complete the activities the adult has predetermined.

Examples

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• Collaborative teams, including family members, are essential to making good decisions regarding which choices may be made by the learner with CHARGE syndrome and which choices may not

• A picture exchange communication system has been adapted to incorporate object and tactile representations for learners who experience vision impairment or have not developed abstract symbolization skills (Lund & Troha, 2008; Parker et al., 2010)

Examples

Note: For the full references, contact the author. Source: Adapted from Bruce, S. M., & Bashinski, S. M. (2017). The Trifocus Framework and interprofessional collaborative practice in severe disabilities. American Journal of Speech-Language Pathology, 26, 171. Reprinted with permission from ASHA.

• Team members can increase communication opportunities through the use of interrupted behavior chain, missing item, and delayed assistance strategies (Bayes et al., 2013; Sigafoos, 1999; Sigafoos et al., 1994)

• Choice-making routines, which incorporate a learner’s preferences, enable a team to distinguish between a learner’s merely participating and making an authentic, meaningful choice (Brady & Bashinski, 2008; Douglas et al., 2013; Logan & Gast, 2001; Lohrmann-O’Rourke, & Browder, 1998)

Ways in Which Interprofessional Teaming Facilitates Implementation

Key Points From the Tri-Focus Framework

Table 25–5.  continued

25. Prelinguistic Communication      383 n Visual clutter n Size of materials/displays/work areas n Presentation of materials within the individual’s visual field

The most important question to be answered for a particular individual is whether or not the environment has been appropriately adapted/augmented for her to benefit from visual input. Primary auditory considerations include the following: n Sound-to-noise ratio n Auditory features of the environment (e.g., AC blowers, gymna­

sium located next door) n Pitch n Intensity n Tempo and rhythm n Source (i.e., mechanical or vocal) of each pertinent sound

The most important question to be answered for a particular individual is whether or not the environment has been appropriately adapted/aug­ mented for her to benefit from auditory input. Additionally, it is important to consider the tactile/tactual features of the communication environment (see Chapter 6): n Preferred temperature n Preferred types of sensory pressure provided n Duration of tactile stimulation n Orientation of adaptive equipment, including seating n Appropriate texture of materials provided n Whether or not the individual’s communication partners know

how to provide meaningful touch cues and use these regularly Consider the individual with CHARGE in terms of the social environment: n Physical proximity to potential communication partners



n Peers



n Adults

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with and without disabilities

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384     CHARGE SYNDROME n Body position, in relationship to spaces in the immediate environment n Body orientation, relative to others in the social environment n Incorporation of movement in activity (e.g., tempo, regularity, direc­

tion of movement) n Adult and/or peer partners who have shown themselves to be

highly responsive Environments that provide structure and support for a learner’s active involvement and psychological needs positively influence the learner’s motiva­ tion for communication and engagement. Equally important is the fact that modi­ fications to any learning environment need to be individualized (Table 25–6). Carter, Huber, and Biggs (2015) demonstrated that peers without disabilities can, with guidance, make a significant contribution to the facilitation of an individual’s communication participation and abilities. If all members of a collaborative team consciously consider these various sensory, motor, tactile, and social aspects when structuring the environment for communication programming, it will facilitate communication skill devel­ opment for an individual with CHARGE.

CONCLUSION Ability to understand and use symbols, level of intentionality, communication rate, and level of gestural development should all be considered when assess­ ing the prelinguistic communicative skills of an individual with CHARGE. Assessment information should be collected by, and from, family members and those who provide educational/habilitation services. Functional assess­ ment information should be collected through a variety of methods, includ­ ing direct observation, interview/questionnaire, and systematic probes in the child’s authentic environments and natural interactions. Following the completion of comprehensive assessment of an individu­ al’s prelinguistic skills, a communication program that incorporates the five strategies of the Tri-Focus Framework for communicative intervention should be implemented concurrently by family, teachers, related services providers, and habilitation workers. The Framework aims to enhance partner sensitivity, augment input, utilize routines, increase opportunities for communication, and modify the communication environment. Collectively, these five Tri-Focus strategies incorporate elements targeted to improve symbolization ability, ad­ vance intentionality skills, increase communication rate, and develop under­ standing and use of both receptive and expressive communicative gestures.

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385

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• Modifications to the physical setting should first consider the environmental arrangement or equipment (Milbourne & Campbell, 2007)

• Physical setting and/or social environmental variables might require modification (Bashinski, 1995; Ferrell et al., 2014; Siegel-Causey & Bashinski, 1997)

• Every context offers a wide variety of multisensory and movement possibilities (Orr, 1993)

• Communication intervention must involve authentic contexts and emphasize joint action routines, in naturalistic interventions (Siegel-Causey & Bashinski, 1997; SiegelCausey & Guess, 1989)

• Systematic modification of environmental variables facilitates a learner’s preferred behavior states and her readiness to engage in communicative interaction (Ault et al., 1995; Siegel-Causey & Bashinski, 1997)

Key Points From the Tri-Focus Framework

continues 

3. Involve peer partners with the learner who has CHARGE syndrome during “push-in” related services sessions in the general education setting.

2. Use targeted lighting each time a learner with CHARGE is asked to engage in a tabletop task—regardless of setting.

• Family members’ input regarding the learner’s needs, preferences, and accessibility in home and community environments is essential • Professionals with particular expertise in sensory development (e.g., vision teacher, orientation and mobility specialist, deaf educator) or motor development (e.g., physical therapist, occupational therapist) must lead modification of environments to ensure the needs of the learner with CHARGE syndrome are considered and her ability to use her residual skills (i.e., sensory and/or motor) is maximized

1. Build daily and weekly schedules for a learner with CHARGE syndrome according to her levels of alertness, rather than the team’s convenience

Examples

• Team members must work collaboratively to develop optimally rich communication environments throughout the school—and home

Ways in Which Interprofessional Teaming Facilitates Implementation

Table 25–6.  Modifying the Communication Environment

386

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Ways in Which Interprofessional Teaming Facilitates Implementation Examples

Note: For the full references, contact the author. Source: Adapted from Bruce, S. M., & Bashinski, S. M. (2017). The Trifocus Framework and interprofessional collaborative practice in severe disabilities. American Journal of Speech-Language Pathology, 26, 173. Reprinted with permission from ASHA.

• Peers who are typically developing can significantly contribute to her participation and communication skill development (Bashinski, 1995; Carter et al., 2015)

• The number of people in the immediate vicinity and/or a setting’s overall activity level can impact a learner’s readiness for communication interaction (Bashinski, 1995)

• Temperature, noise level, and visual stimuli need to be considered differentially for indoor and outdoor environments (Bashinski, 1995)

• Moving or adjusting the learner’s body might meaningfully change her muscle tone and, resultantly, her readiness for communication interaction (Bashinski, 1995; Utley, 2002)

• Altering sensory stimuli (e.g., tactile, auditory, visual, and olfactory) might necessarily involve an increase or a decrease (Bashinski, 1995; Utley, 2002)

• Levels of sensory and/or motor stimulation affect a learner’s motivation and/or ability, to engage in a communication interaction (Orr, 1993; Utley, 2002)

Key Points From the Tri-Focus Framework

Table 25–6.  continued

25. Prelinguistic Communication      387

REFERENCES Bashinski, S. M. (Ed.) (1995). ABLE training manual: Analyzing behavior state and learning environments. Department of Special Education, University of Kansas. Bashinski, S. M. (2015a). Communication programming for learners with CHARGE syndrome: Augmenting comprehension and expression. Perspectives on Augmen­ tative and Alternative Communication, 24(3), 86–93. Bashinski, S. M. (2015b). Receptive and expressive dictionaries for students who do not use symbols. Word of Mouth, 26(4), 13–16. Bashinski, S. M., Braddock, B. A., Neal, C. A., & Heithaus, J. (2017). Families’ perspec­ tives: Types and purposes of communication used by their children with CHARGE syndrome. Paper presented at the 13th International CHARGE Syndrome Confer­ ence, Orlando, FL. Bashinski, S. M., & Bruce, S. M. (2014, June). Promoting communication development in presymbolic learners with multiple disabilities. Online e-conference session at Improving Communication of People with Severe Disabilities: Interprofessional Strate­ gies, American Speech-Language-Hearing Association. Retrieved from http://www .asha.org/Events/severe-disabilties/Curriculum.htm Bates, E., Benigni, L., Bretheron, I., Camaioni, L., & Volterra, V. (1979). The emergence of symbols: Cognition and communication in infancy. New York, NY: Academic Press. Beukelman, D. R., & Mirenda, P. (2013). Augmentative and alternative communica­ tion: Supporting children and adults with complex communication needs (4th ed.). Baltimore, MD: Paul H. Brookes Publishing. Brady, N., & Bashinski, S. M. (2007, November). Increased communication in deafblind children after adapted PMT intervention. Paper presented at the American Speech-Language-Hearing Association (ASHA) Annual Convention, Boston, MA. Brady, N. C., & Bashinski, S. M. (2008). Increasing communication in children with concurrent vision and hearing loss. Research and Practice for Persons with Severe Disabilities, 33(1–2), 59–70. Brady, N. C., Bruce, S., Goldman, A., Erickson, K., Mineo, B., Ogletree, B. T., . . . Wilkinson, K. (2016). Communication services and supports for individuals with se­ vere disabilities: Guidance for assessment and intervention. American Journal on Intellectual and Developmental Disabilities, 121(2), 121–138. Brady, N. C., Marquis, J., Fleming, K., & McLean, L. (2004). Prelinguistic predictors of language growth in children with developmental disabilities. Journal of Speech, Language, and Hearing Research, 47, 663–677. Brown, F., Belz, P., Corsi, L., & Wenig, B. (1993). Choice diversity for people with se­­ vere disabilities. Education and Training in Mental Retardation, 28(4), 318–326. Bruce, S. M. (2005a). The application of Werner and Kaplan’s concept of “distancing” to children who are deaf-blind. Journal of Visual Impairment and Blindness, 99(8), 464–477. Bruce, S. M. (2005b). The impact of congenital deafblindness on the struggle to sym­ bolism. International Journal of Disability, Development and Education, 52(3), 233–251. Bruce, S. M., & Bashinski, S. M. (2017). The Trifocus Framework and interprofes­ sional collaborative practice in severe disabilities. American Journal of SpeechLanguage Pathology, 26(2), 162–180.

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388     CHARGE SYNDROME Bruce, S. M., Luckner, J. L., & Ferrell, K. A. (2018). Assessment of students with sen­ sory disabilities: Evidence-based practices. Assessment for Effective Intervention, 43(2), 79–89. Bruce, S. M., Mann, A., Jones, C., & Gavin, M. (2007). Gestures expressed by children who are congenitally deaf-blind: Topography, rate, and function. Journal of Visual Impairment and Blindness, 101(10), 637–652. Bruce, S. M., Nelson, C., Perez, A., Stutzman, B., & Barnhill, B. A. (2016). The state of research on communication and literacy in deafblindness. American Annals of the Deaf, 161(4), 424–443. Bruce, S. M., Trief, E., & Cascella, P. W. (2011). Teachers’ and speech-language pa­ thologists’ perceptions of a tangible symbols intervention: Efficacy, generalization, and recommendations. Augmentative and Alternative Communication, 27(3), 172–182. Bruce, S. M., & Vargas, C. (2007). Intentional communication acts expressed by chil­ dren with severe disabilities in high-rate contexts. Augmentative and Alternative Communication, 23(4), 300–311. Carter, E. W., Huber, H. B., & Biggs, E. E. (2015). The importance of peers as com­ munication partners. In J. E. Downing, A. Hanreddy, & K. Peckham-Hardin (Eds.), Teaching communication skills to students with severe disabilities (3rd ed., pp. 233–258). Baltimore, MD: Paul H. Brookes Publishing. Chen, D., Downing, J., Minor, L., & Rodriguez-Gil, G. (2005). Successful adaptations for learning to use touch effectively: Interaction with children who are deaf-blind or visually impaired and have additional disabilities. California State Uni­­versity, Department of Special Education. Retrieved from http://www.projectsalute.net Chen, D., Rowland, C., Stillman, R., & Mar, H. (2009). Authentic practices for assess­ ing communication skills of young children with sensory impairments and mul­ tiple disabilities. Early Childhood Services, 3, 323–338. Damen, S., Janssen, M. J., Ruijssenaars, W. A., & Schuengel, C. (2017). Scaffolding the communication of people with congenital deafblindness: An analysis of sequential interaction patterns. American Annals of the Deaf, 162(1), 24–33. Dammeyer, J. (2014). Deafblindness: A review of the literature. Scandinavian Jour­ nal of Public Health, 42(7), 554–562. Downing, J. E., Hanreddy, A., & Peckham-Hardin, K. (2015). Teaching communica­ tion skills to students with severe disabilities (3rd ed.). Baltimore, MD: Paul H. Brookes Publishing. Doyle, M. B. (2008). The paraprofessional’s guide to the inclusive classroom (3rd ed.). Baltimore, MD: Paul H. Brookes Publishing. Fenson, L., Marchman, V. A., Thal, D., Dale, P., Reznick, J., & Bates, E. (2007). The MacArthur-Bates Communicative Development Inventories: User’s guide and tech­ nical manual (2nd ed.). Baltimore, MD: Paul H. Brookes Publishing. Ferguson, D. L., & Baumgart, D. (1991). Partial participation revisited. Journal of the Association for Persons with Severe Handicaps, 16(4), 218–227. Ferrell, K. A., Bruce, S., & Luckner, J. L. (2014). Evidence-based practices for students with sensory impairments (Document No. IC-4). Retrieved from http://ceedar.edu cation.ufl.edu/tools/innovation-configurations FIRST WORDS Project. (2014). 16 gestures by 16 months. Florida State University. Retrieved from http://firstwordsproject.com/ Halle, J., & Meadan, H. (2007). A protocol for assessing early communication of young children with autism and other developmental disabilities. Topics in Early Child­ hood Special Education, 27(1), 49–61.

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25. Prelinguistic Communication      389 Huer, M., & Miller, L. (2011). TECEL: Test of Early Communication and Emerging Language. Austin, TX: Pro-Ed. Iverson, J., & Thal, D. (1998). Communication transitions: There’s more to the hand than meets the eye. In A. Wetherby, S. Warren, & J. Reichle (Eds.), Transitions to prelin­ guistic communication (pp. 59–86). Baltimore, MD: Paul H. Brookes Publishing. Janssen, M. J., Riksen-Walraven, J. M., & van Dijk, J. P. M. (2003). Contact: Effects of an intervention program to foster harmonious interactions between deaf-blind chil­ dren and their educators. Journal of Visual Impairment and Blindness, 97(4), 215–229. Johnson, N., & Parker, A. T. (2013). Effects of wait time when communicating with children who have sensory and additional disabilities. Journal of Visual Impair­ ment and Blindness, 107(5), 363–374. Loncke, F. (2014). Augmentative and alternative communication: Models and applications for educators, speech-language pathologists, psychologists, caregiv­ ers, and users. San Diego, CA: Plural Publishing. Luckner, J. L., Bruce, S. M., & Ferrell, K. A. (2016). A summary of the communica­ tion and literacy evidence-based practices for students who are deaf or hard of hearing, visually impaired, and deafblind. Communication Disorders Quarterly, 37(4), 225–241. Peltokorpi, S., & Huttunen, K. (2008). Communication in the early stage of language development in children with CHARGE syndrome. British Journal of Visual Impair­ ment, 26(1), 24–49. Rowland, C. (1990). Communication in the classroom for children with dual sensory impairments: Studies of teacher and child behavior. Augmentative and Alterna­ tive Communication, 6(4), 262–274. Rowland, C. (2008). The Communication Matrix. Retrieved from http://www.com municationmatrix.org/ Siegel, E., & Wetherby, A. (2006). Nonsymbolic communication. In M. E. Snell & F. Brown (Eds.), Instruction of students with severe disabilities (pp. 405–446). Baltimore, MD: Paul H. Brookes Publishing. Siegel-Causey, E., & Guess, D. (1989). Enhancing nonsymbolic communication inter­ actions among learners with severe disabilities. Baltimore, MD: Paul H. Brookes Publishing. Sigafoos, J., Arthur-Kelly, M., & Butterfield, N. (2006). Inventory of Potential Commu­ nicative Acts (IPCA). Enhancing everyday communication (pp. 137–153). Balti­ more, MD: Paul H. Brookes Publishing. Sigafoos, J., Woodyatt, G., Keen, D., Tait, K., Tucker, M., Roberts-Pennell, D., & Pitten­ dreigh, N. (2000). Identifying potential communicative acts in children with devel­ opmental and physical disabilities. Communication Disorders Quarterly, 21(2), 77–86. Slavin, L. J., & Hartshorne, T. S. (2019). The development of an educational checklist for individuals with CHARGE syndrome. International Journal of Developmental Disabilities, 1–7. doi:10.1080/20473869.2019.1642639 Smith, K. G., Smith, I. M., & Blake, K. (2010). CHARGE syndrome: An educator’s primer. Education and Treatment of Children, 33(2), 289–314. TASH. (2000). TASH resolution on augmentative and alternative communication methods and the right to communicate (Rev.) [Resolution]. Retrieved from http:// www.newhopearts.org/uploads/PATashUploads/PdfUpload/TASH%20Resolution %20on%20the%20Right%20to%20Communicate%20.pdf

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390     CHARGE SYNDROME Thelin, J. W., Steele, N. K., & King, E. A. (2008). CHARGE syndrome: Developing com­ munication in children with multi-sensory deficits [Webinar PowerPoint slides]. Retrieved from http://www.asha.org/eweb/OLSDynamicPage.aspx?Webcode=ols details&title=CHARGE van Dijk, W., & Gage, N. (2019). The effectiveness of visual activity schedules for in­ dividuals with intellectual disabilities: A meta-analysis. Journal of Intellectual and Developmental Disability, 44(4), 384–395. Warren, S. F., Bredin-Oja, S. L., Fairchild-Escalante, M., Finestack, L. H., Fey, M. E., & Brady, N. C. (2006). Responsivity education/prelinguistic milieu teaching. In R. McCauley & M. Fey (Eds.), Treatment of language disorders in children (pp. 47– 75). Baltimore, MD: Paul H. Brookes Publishing. Watt, N., Wetherby, A., & Shumway, S. (2006). Prelinguistic predictors of language outcome at 3 years of age. Journal of Speech, Language, and Hearing Research, 49, 1224–1237.

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CHAPTER 26

Forms and Functions in Communication EMILY KING MILLER, LORI A. SWANSON, NANCY K. STEELE, SARA J. THELIN, AND JAMES W. THELIN

INTRODUCTION Communication abilities in children with CHARGE syndrome (CS) vary greatly, but expressive communication skills in all of these children are delayed. The abilities of the individual may range from preintentional to symbolic communi­ cation, regardless of age. Preintentional communication involves respond­ ing to pleasure or displeasure with expressions such as crying or laughing that are not directed toward a particular person. At the presymbolic level of intentional communication, behaviors such as reaching, pointing, crying, and vocalizing are directed toward a person to request, protest, or inform. Symbolic communication uses spoken or signed language to convey in­­ formation to another person and receive information back. Though formal stud­­ies are not available, anecdotally, professionals believe that about 40% of indi­ viduals with CS do not develop symbolic communication. Hartshorne and Russ (unpublished data) asked parents to identify their child’s communication skills and found that about 26% fail to use symbolic words to communicate (as cited by Hartshorne & Hissong, 2014). The exact percentage remains unknown. 391

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392     CHARGE SYNDROME

Individuals who do not develop any form of symbolic language may use gestures, touch cues, object cues, body movements, eye gaze shift, or, in frus­ tration, maladaptive behaviors to communicate. Maladaptive or noncompli­ ant behavior can include biting, hitting, screaming, and/or self-injury. Many parents report that their children with CHARGE use noncompliant behaviors to communicate. These nonsymbolic communicative forms may be highly idiosyncratic and interpretable only by members of the immediate family. Individuals with CHARGE who develop symbolic language may use more than one form of communication: sign language, spoken language, visual sym­ bols, voice output communication aid ( VOCA), or a combination. Among these individuals, delays are common in vocabulary recall, initiating communication, and abstract language forms (Brown, 2005). Thelin and Swanson (2006) reported that these children often show a delay in maintaining a topic and in turn-taking in a conversation. Because of the extreme diversity in communication styles and ability among children with CS, generalizations about this group are of less value than descriptions of the capabilities of specific individuals ( Figure 26–1).

Figure 26–1.  The development of symbolic communi­ cation varies a great deal among children with CHARGE. This boy is signing “bear.”

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26.  Forms and Functions in Communication      393

This chapter reviews communication forms and functions in children who are deafblind, presents results of an extensive study of communication forms and function in CS (King, 2009), and provides specific examples that illustrate how communication in children with CS might be evaluated in ways that provide useful information for advancing the communication skills in children at various levels.

CHALLENGES IN ASSESSING COMMUNICATION SKILLS IN CHARGE SYNDROME Assessing communication abilities in individuals with CHARGE is challenging due to their delays in expressive communication and unconventional modes of communicating. Standardized language tests rely heavily on vocalizations, pointing, and functional vision and hearing to evaluate communication skills. Most individuals with CS have combined hearing and vision loss as well as significant motor delays. Language tests exist that have been normed on children who are deaf or hard-of-hearing. However, these tests also rely on normal visual and motor abilities. For individuals with CS who have some lan­ guage ability but do not have these skills, test scores are likely to underrepre­ sent communication abilities. For individuals at the lowest levels of intentional communication, no useful information on the person’s communication abilities is gained from standardized tests because the scores will likely fall several stan­ dard deviations below the mean. Even at the highest levels of symbolic commu­ nication, standardized test results may be skewed by the examiner’s inability to understand the examinee, whose verbal communication may be affected by hearing and vision loss, craniofacial anomalies, and pragmatic abilities. In lieu of standardized tests, some investigators support the use of obser­ vational assessment of individuals with deafblindness and multiple anoma­ lies as the most effective way of assessing expressive communication skills (Brady, 2005; Rowland & Fried-Oken, 2010). The National Joint Committee for the Communication Needs of Persons with Severe Disabilities (1992) also suggests that assessment for individuals with severe disabilities should focus on a descriptive analysis of the individual’s ability to use intentional commu­ nicative acts, including a description of the different communicative forms and functions, rather than on scores from standardized tests. Identifying abili­ ties and skills to build on is much more useful than identifying deficits.

COMMUNICATIVE FORMS, FUNCTIONS, AND RATE There are few studies published specifically on communication develop­ ment in CHARGE (e.g., Bashinski, 2015; Peltokorpi & Huttunen, 2008). How­ ever, investigators have reported information on language development

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and behavior in individuals with deafblindness and multiple disabilities that can be applied to the analysis of communication in individuals with CS. Those analyses rely on the description of communicative forms, functions, and rate. The term communicative form indicates the mode of communication used: pointing, reaching, vocalization, tantrum, self-injury, gesture, sign, speech, and so forth. There are two main categories of communicative forms: presym­ bolic (e.g., gestures, reaching, pointing) and symbolic (signed, spoken, or writ­ ten language) forms. The term communicative function is used to refer to the reason or purpose for communication: a request, a response to a question, a comment, a greeting, an abstract thought, and so on. The “communicative rate” is the frequency with which the individual communicates, calculated in com­ municative acts per minute (acts/min). The types of communicative forms an individual uses at any point in development are valuable for predicting later language outcomes. Investiga­ tors have linked the acquisition of higher prelinguistic forms, such as distal pointing (index finger pointing without contact with the object), rate of com­ munication, and the successful use of communicative functions, to higher levels of linguistic development in both typically developing children and indi­ viduals with disabilities (Brady, Marquis, Fleming, & McLean, 2004; Delehanty, Stronach, Guthrie, Slate, & Wetherby, 2018; Watt, Wetherby, & Shumway, 2006; Yoder, Warren, & McCathren, 1998). Crais, Watson, and Baranek (2009) proposed a general developmental sequence of gestures for typically develop­ ing children from age 9 months up to age 24 months. Pushing away objects and reaching for objects are described as the earliest developing gestures. Blowing kisses and head nodding are some of the later developing gestures described. These investigators suggest that careful analysis of specific commu­ nicative forms may be useful in distinguishing between certain disorders (e.g., autism spectrum disorder [ASD], Down syndrome) in young children. In a recent study, infants’ use of gestures for social interactions distinguished lowrisk controls from two high-risk groups (infants with fragile X syndrome and infant siblings of children with ASD) at 12 months (Hughes, Hogan, Roberts, & Klusek, 2019). In another study, use of early social skills predicted later verbal and nonverbal skills in toddlers with and without ASD (Delehanty et al., 2018). Development of communicative forms in individuals with deafblindness and/or multiple disabilities is nearly always delayed and may be limited to presymbolic forms of communication (e.g., direct behaviors, facial expres­ sions). These individuals often use idiosyncratic presymbolic forms to com­ municate. Bruce, Mann, Jones, and Gavin (2007) describe seven children with deafblindness who used 44 different presymbolic forms to communi­ cate. Each participant used a variety of gestures, which were mostly contact gestures and/or unconventional forms. Bruce et al. (2007) suggest that con­ tact gestures are common in individuals with visual impairment, and these individuals are less likely to use conventional gestures such as distal pointing. Symbolic forms of communication must be directly taught to individuals with deafblindness ( Hagood, 1997). The use of different communicative forms, such as touch cues, object cues, and hand-under-hand strategies, are often

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26.  Forms and Functions in Communication      395

required to facilitate functional communication in individuals with deafblind­ ness. Other symbolic forms that individuals with deafblindness may use include finger spelling, signed English, Braille, Sign Language (which varies by country), lip-reading speech, Tadoma method of speech-reading, and Pidgin Signed En­ glish (Miles, 2005). To facilitate communication, individuals with severe disabilities should be provided access to augmentative and alternative communica­tion (AAC) as per the Revised Communication Bill of Rights (Brady et al., 2016). The use of communicative function (the reason or purpose of the commu­ nication) requires an understanding of causality. At the level of preintentional communication, behaviors are reactions to environmental changes that are not dependent on the understanding of causality. Children with disabilities show lower rates of joint attention (e.g., following another’s gaze or pointed finger), which is the basis for developing intentional communication (Bruce, 2005). Communicative function begins when an individual moves on to intentional communication. Protesting, requesting objects, and requesting actions are some of the first communicative functions to develop in the presymbolic stage, in which gestures rather than speech are used for communication (Crais et al., 2009; Wetherby, Cain, Yonclas, & Walker, 1988). Behavioral regulation, social interaction, and joint attention are the three early categories of communicative function expressed by children (Crais et al., 2009). As the individual’s language skills increase, these functions expand to include more specific purposes, like requests for information, responses to requests for clarification, and declarative statements. The ability to use communication for a variety of purposes is neces­ sary in order to inform others of one’s wants, needs, and opinions. The ability to use a variety of communicative functions successfully is highly correlated with higher levels of presymbolic communication (e.g., distal pointing) and symbolic communication (Stephenson & Linfoot, 1996). The presence of multiple disabilities has an even greater impact on the acquisition of communicative functions and on the number of functions an individual uti­ lizes (Bruce, Godbold, & Naponelli-Gold, 2004). Individuals with deafblindness often have difficulty understanding that communication has a purpose (Hagood, 1997). However, even when they have grasped this concept, they use relatively lower-level communicative functions such as to request or regulate other’s behavior for their own needs (Hagood, 1997). It has also been suggested that children with deafblindness are not only delayed or restricted in expressing different communicative functions but also show a unique pattern of develop­ ment for communicative functions (Bruce, 2005). Bruce et al. (2007) reported similar findings; most of the communication by their seven participants was to request action, request an object, or protest. Cascella, Bruce, and Trief (2015) reanalyzed the samples of seven participants in Bruce et al. (2007). Indepen­ dent ambulation skills were associated with communication repair skills. The authors suggest that independent ambulation may allow individuals with CHARGE the opportunity to participate in discourse and acquire repair skills. Peltokorpi and Huttunen (2008) studied the communication abilities of three children with CHARGE who differed in age (16 months; 3 years, 9 months; and 8 years, 4 months) but had similar communication skills. Communication

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samples were obtained from videotapes of the children interacting with their mothers and were analyzed using modifications of the Tait Video Analysis for studying preverbal skills in children with hearing impairment and the Commu­ nicative Intention Inventory (Coggins & Carpenter, 1981). The investigators examined preintentional and intentional communication and described the communication in terms of mode, communicative function, and frequency of communicative initiations. The analyses revealed that all three children were functioning at the presymbolic stage of communication. They most often used gestures and vocalizations, less often signs. The children initiated communica­ tion less than half the time, and their rate of intentional communication was very low (less than 20% of communicative acts in sample). Protesting was the most common function used by the participants. Peltokorpi and Huttanen con­ cluded that these three children with CS, with very different clinical profiles and different ages, all showed similarities in the forms and purposes of com­ munication in the early stages of communication development (mostly with gestures and to protest). They also noted that intentionality and communica­ tive function were often difficult to determine due to the combination of impairments and idiosyncratic forms of communication.

COMMUNICATIVE ANALYSIS OF INDIVIDUALS WITH CHARGE: THE KING STUDY A series of studies at the University of Tennessee ( UT ) was designed to describe and evaluate expressive communication skills across the communication spectrum in 21 individuals with CHARGE (King, 2009). The King project was similar to the Peltokorpi and Huttunen study (2008); however, the UT research included more children, with a wider range of communication abilities, and focused on description of intentional communication regarding communica­ tive forms, functions, and rate. Some of the individuals in the study had abilities near the boundary between preintentional and intentional communication, while others were conversationalists. The objectives were to discriminate between unintentional behaviors and the earliest presymbolic communication, describe intentional idiosyncratic communication modes, and provide useful descriptions of symbolic communicators that would not be described using standardized tests. An example of the coding scheme is shown in Figure 26–2. Columns rep­ resent the communicative forms, proceeding from presymbolic (crying, tan­ trums, etc.) to symbolic communication (one-word or multiple-word). Signs, verbalizations, and VOCAs are the symbolic forms that were coded. Commu­ nicative functions are listed in rows and progress from the earliest developing communicative functions (request for permission, greeting, etc.) to higher developing functions (request for clarification, statement, etc.). Definitions of all forms and functions are in Tables 26–1 and 26–2.

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Figure 26–2.  Example coding scheme. 397

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Table 26–1.  Communicative Forms: Abbreviations and Definitions PRESYMBOLIC FORMS

DEFINITIONS

CRY Crying

Vocal cry directed toward an adult, either to protest, request an object or action, or gain attention. Reflexive cries, such as when infants are uncomfortable or sick, are not considered intentional.

TANT Tantrums

Kicking, screaming, and/or flapping arms that is communicative but that is not aimed to injure another person or self.

AGRES Aggression

Aggressive behaviors, such as hitting, kicking, pinching, biting, or any other injurious behavior that is directed toward self or another individual and shows communicative intent.

PM Physical manipulation

Manipulation of another person’s hand or other body part in order to communicate a message.

GAZE Gaze shift

Change in eye movement and/or body position that has communicative intent.

GIVE Giving

Act of giving an object to another person for a communicative purpose.

SHOW Showing

Holding an object in the other person’s view in order to communicate something about that object.

REACH Reaching

Extension of the arm/s and hand/s toward an object or person that is out of reach.

CP Contact pointing

Use of index finger to point to an object or person while touching that object or person.

DP Distal pointing

Use of the index finger to point toward an object or person that is out of reach.

SHAKE Head shake

Movement of head side to side to indicate a protest.

NOD Head nod

Movement of the head up and down in order to indicate affirmation.

GEST Gesture

Physical movement that is not a formal sign and is not included in the above list of gestures but communicates a message (e.g., waving hello or good-bye).

VOC Vocalizations

Vocal productions of vowels and/or consonants that are directed toward an adult and display communicative function.

PIC X Picture exchange

Exchange of visual pictures/symbols with another person in order to communicate.

SYMBOLIC FORMS s One-word signs

Recognizable one-word manual signs that are accompanied by communicative intent. 398

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Table 26–1.  continued PRESYMBOLIC FORMS

DEFINITIONS

v One-word verbalizations

Recognizable spoken one-word utterances that are accompanied by communicative intent.

s+v One-word signs + verbalization

Combination of a spoken one-word utterance with its corresponding sign.

ss Multiword signs

Combination of two or more recognizable signs that have communicative intent.

vv Multiword verbalizations

Combination of two or more word utterances that have communicative intent.

ss+vv Multiword signs + verbalizations

Combination of spoken multiword utterance with its corresponding signs.

VOCA One or multiword VOCA

Voice output communication aid (VOCA) on a computerized augmentative and alternative communication device that is used to communicate a message (e.g., Dynavox).

Table 26–2.  Communicative Functions: Abbreviations and Definitions FUNCTIONS

DEFINITIONS

BEHAVIORAL REGULATION

Communicative acts that attempt to affect another person’s behavior.

RQOB Request object

Request that the communicative partner give the desired object.

RQAC Request action

Request that the communicative partner perform an action.

PROT Protest

Indication of a disagreement with what the communicative partner is doing/not doing.

SOCIAL INTERACTION

Communicative acts seeking interaction with a partner.

RQSR Requesting social routine

Request that the communicative partner interact by performing a social routine (i.e., playing peek-a-boo).

RQCT Requesting comfort

Request that the communicative partner provide comfort (i.e., holding the child, providing favorite blanket).

GREET Greeting

Salutations to a communicative partner when he/she enters or exits (i.e., waving or saying hello and goodbye). continues 399

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Table 26–2.  continued FUNCTIONS

DEFINITIONS

CALL Calling

Attempt to gain the attention of a communicative partner with the intent to communicate something.

RQPM Requesting permission

Request that communicative partner give permission to obtain an object or perform an action.

SHOW Showing

Communication with the intent to perform or show a skill or object so the communicative partner may praise or comment.

CONVERSATIONAL ACTS

Communicative acts used to exchange information about an object or event.

COMT Comments

Identification or description of an object or event that is observable (i.e., “We went to the store today,” “That’s a ball”).

RQIN Request information

Communicative acts that seek information or explanations about an object or event (i.e., rising intonation, palms-up gestures, wh-questions).

PRIN Provide information

Communicative act that gives information requested by the communicative partner.

IMI Imitation

Partial or complete imitation of the communicative partner’s previous utterance, gesture, vocalizations, or action.

RQCL Requests for clarification

Request that the communicative partner provide clarification of a previous utterance either by repeating or rephrasing.

ASST Statements

Opinion, evaluation, or thoughts that are not directly observable (i.e., “I love ice cream,” “I’m finished with that”).

PERF Performative

Jokes, warnings, or teasing that are often accompanied by laughing and/or an expectant look.

RSAC Response to requests for action

Verbal or gestural communicative act that accompanies a requested action from the partner.

RSCL Response to requests for clarification

Attempt to repeat and/or clarify a previous utterance after the communicative partner directly or indirectly requests clarification.

RSAT Response to requests for attention

Utterances (i.e., “Yes,” “What?”) that signal to the partner that he/she is attending to the partner after the partner has requested attention.

RSAS Response to assertives and performatives

Responses (i.e., “uh-huh,” “okay”) that add no new information but let the partner know that he/she is paying attention and that the partner can continue; agreements. 400

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26.  Forms and Functions in Communication      401

King’s study used elements from previous research on descriptive com­ munication analysis of communicative forms and functions with some adjust­ ments (Crais et al., 2009; Peltokorpi & Huttunen, 2008). There were 21 participants with CS at various stages of communication, using 22 different communication modes and 20 different communicative functions that may be used by individuals with early presymbolic to symbolic communication (Table 26–1). Fifteen-minute videotaped communication samples of each individual with a deafblind specialist were analyzed according to communica­ tive form, function, and rate. King Study Communication Categories Results from the 21 participants were sorted into three categories based on communication level as measured by rate, form, and function. Those in Cat­ egory I were labeled “presymbolic communicators” and communicated at a low rate, using mostly presymbolic forms and mainly behavioral regulation to communicate. Individuals in Category III, “symbolic communicators,” com­ municated at a high rate, used mainly symbolic forms, and used primarily the function of conversational acts. Individuals in Category II, “transitional com­ municators,” fell in between the presymbolic and symbolic communicators. Examples and descriptions of participants in each category are presented in the next sections with explanations on how the coding scheme can be utilized. Participant 1: Presymbolic Communicator Participant 1 (P1) is a 9-year-old female who communicates at the beginning levels of intentional communication. She has severe to profound mixed (sen­ sorineural and conductive) hearing loss bilaterally and is aided by hearing aids. She has very limited vision in her right eye and reduced vision in her left eye due to coloboma and myopia. She wears corrective lenses. She is unable to walk independently, using a wheelchair for mobility. Her parent reported that she began receiving speech and language therapy by age 3 years. P1’s communication is intentional and presymbolic but very limited in the variety of communicative forms and functions used. Her parent reports that she communicates through emotional responses, direct behaviors, ges­ tures, vocalizations, single-word signs, and object symbols. In the communication sample, P1 communicated at a very low rate (1.0 act/min). The number of communicative forms and functions she used are indicated by the gray shaded boxes in Figure 26–3. All of her functions fall in the upper left area of the coding scheme, indicating that she is at a begin­ ning level of presymbolic communication. All of her communicative acts are presymbolic, and she only uses four different forms. The majority of her com­ municative forms are two early developing forms: physical manipulation and

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402

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Figure 26–3.  Coding scheme for Participant 1 (9:0 female): presymbolic communicator.

26.  Forms and Functions in Communication      403

reaching. Her communicative functions were mostly behavioral regulations, with only one conversational act. The analysis reveals that P1 is at a presymbolic level of intentional com­ munication and is limited in expressing a variety of communicative func­ tions. Most standardized testing protocols would indicate that she is several standard deviations below the mean for her age, which is true, but unhelpful in determining how to advance her communication skills. The King analy­ sis provides specific information about what communicative skills P1 does utilize. It also shows that this child has the ability to use a higher develop­ ing communicative function (provide information) but needs assistance in increasing her rate of communication and developing higher-level communi­ cative forms to increase the range of her communication. Language therapy should focus on increasing her rate of communication, teaching the use of later-developing presymbolic forms, and increasing her communicative forms to include more social interaction and conversational acts. Participant 2: Transitional Communicator Participant 2 (P2) is a 13-year-old male with CHARGE. He has severe to pro­ found hearing loss in his left ear and mild to moderate hearing loss in his right ear; both ears are aided with conventional hearing aids. His parent reports that his vision is stable, and he wears glasses. He is able to walk independently, with some balance problems due to low muscle tone in his upper body and likely disturbed vestibular function of the inner ear. P2 has a tracheostomy and is unable to vocalize. He currently attends middle school with a one-onone aid. He receives speech and language therapy and occupational therapy at school. P2 uses communication intentionally with a combination of presym­ bolic and symbolic forms of communication. His parent reports that he uses mainly sign language, emotional responses (facial expression, crying, look­ ing), direct behaviors (reaching for objects, physically manipulating another person’s hand), and gestures to communicate. He most frequently uses single words but also uses some two- to five-word sign language phrases to com­ municate. P2 uses symbolic communication but is not yet at a conversational level of communication. P2 communicated more frequently than P1, but his rate of communica­ tion was still low for a symbolic communicator (4.1 acts/min). P2’s com­ municative functions and forms fall mostly in the lower half of the table (see Fig­ure 26–4). The table indicates that P2’s development of symbolic com­ munication is emerging, as he uses mostly one-word signs along with several other presymbolic forms. In this sample, P2 often uses presymbolic forms of communication, such as distal pointing, showing, head nodding, gestures, and physical manipulation. He used a variety of communicative functions (10 different functions), most of which were the highest category of function, conversational acts. However, communicative acts were mostly responses

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404

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Figure 26–4.  Coding scheme for Participant 2 (13:1 male): transitional communicator.

26.  Forms and Functions in Communication      405

(responses to requests for information or responses to assertive statements and performatives), which indicates that he rarely initiated communication. The analysis shows that P2 is in a transitional stage between presymbolic and symbolic communication, and intervention should focus on expanding his expressive signs to two- to five-word combinations. Intervention should also target increasing his initiations, including increasing requests, protests, comments, and statements. Again, for this participant, standardized testing would only indicate age-related skills that he does not use, instead of indicat­ ing what communication skills he does use which can be expanded upon. Participant 3: Symbolic Communicator Participant 3 (P3) is a 9½-year-old female who is at a conversational level of language development. She has a severe to profound bilateral hearing loss, which is aided by a bone-anchored hearing aid (BAHA) Divino Implant. She has several visual problems (far-sightedness, astigmatism, coloboma, ambly­ opia, exotropia), but her parent reports that her functional vision is very good with corrective lenses. She is able to walk independently but has some balance problems. P3 first received language therapy at age 12 months and is currently attending a regular education classroom. She communicates at a conversational level through spoken English. Her mother reports that she occasionally needs the support of manual signs along with spoken words for understanding. In the communication sample, P3 communicated at a much higher rate than P1 or P2 (6.5 acts/min). The shading in Figure 26–5 is mostly on the far-right column, which indicates that she is a symbolic communicator at a conversational level. P3 utilized a variety of communicative functions (9 of 20), and most of them were conversational acts, such as responses to asser­ tive statements and performatives and responses to requests for clarification. Her most frequent communicative functions were to provide information, responses to requests for clarification, and requests for information. She rarely used communicative functions to initiate communication such as com­ ments, statements, protests, and requests for action in this communicative sample. The analysis indicates that while P3 is at a conversational level of com­ munication, she still shows areas of weakness in her use of different commu­ nicative functions. Intervention should focus on increasing her initiations of communication, especially comments and statements. The cases presented illustrate the wide range of communication skills of individuals with CHARGE at similar ages. In two of the cases presented (P1 and P2), the individuals had grossly delayed communication development. At 9 and 13 years of age, each showed only a limited ability to use symbolic communication with sign language. However, the analyses revealed that the communication abilities of these two individuals are very different from each other with respect to their use of communication forms and functions.

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406

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Figure 26–5.  Coding scheme for Participant 3 (9:6 female): symbolic communicator.

26.  Forms and Functions in Communication      407

The 13-year-old (P2) communicated at a much higher rate and with several symbolic forms, while the 9-year-old (P1) only used presymbolic forms. P2 also showed a much better ability to communicate for a variety of purposes, like to make specific requests, comment, and respond to requests, than did P1. While P3 was at a much higher level of communication, the analysis still revealed some specific areas of weakness in her expressive communica­ tion. Although this type of analysis is very time consuming, it may be what is required to understand why one individual behaves very differently than another and to plan appropriate language and communication strategies for each child. The communicative forms, functions, and rate included in the coding scheme for these analyses mainly targeted presymbolic and early symbolic com­ munication. This was done because a very substantial percentage of individuals with CHARGE communicate at the presymbolic level and because there are few formal procedures for evaluating expressive communication at this level. For individuals with CS who use a higher level of symbolic communication, modified standardized tests may be appropriate, but analysis with King’s coding scheme may still have value in describing patterns of usage that are unusual in typically developing individuals. For each of the individuals described in this chapter, the value of the coding scheme was that it provided a description of capabilities and limitations of the individual that was useful as a tool to under­ stand the individual’s current communication abilities. From this initial attempt, we know that communication in children with CHARGE ranges from little or no intentional communication to nearly ageappropriate symbolic communication. King’s findings are consistent with other studies that have found variability in the participants’ communication skills (Dammeyer & Larsen, 2016; Hartshorne & Russ [unpublished data] as cited by Hartshorne & Hissong, 2014). Regardless of their abilities, persis­ tence in promoting development of communication skills is critical for the well-being of the child at all levels of communication.

CONCLUSION The forms of communication used by individuals with CHARGE are diverse, in part because the patterns of sensory deficits and anomalies are diverse in the CS population. The development of communication in these individuals is nearly always very significantly delayed and may progress at a very slow rate because of these anomalies. Most standardized tests will indicate that the individual with CS is performing well below age level but will not indi­ cate what abilities are present and which are missing (see Chapter 18). The procedures described provide a method for analyzing and describing the communication abilities that are specific to the individual and not related to chronological age.

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408     CHARGE SYNDROME

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26.  Forms and Functions in Communication      409 Hughes, K. R., Hogan, A. L., Roberts, J. E., & Klusek, J. (2019). Gesture frequency and function in infants with fragile X syndrome and infant siblings of children with autism spectrum disorder. Journal of Speech, Language, and Hearing Research, 62(7), 2386–2399. King, E. (2009). Communicative rate, form, and function in CHARGE syndrome [Unpublished master’s thesis], University of Tennessee, Knoxville. Miles, B. (2005). Overview on deaf-blindness. DB-Link, 1–6. National Joint Committee for the Communication Needs of Persons with Severe Dis­ abilities. (1992). Guidelines for meeting the communication needs of persons with severe disabilities. Retrieved from https://www.asha.org/policy/GL1992 -00201/ Peltokorpi, S., & Huttunen, K. (2008). Communication in the early stage of language development in children with CHARGE syndrome. British Journal of Visual Im­ pairment, 26(1), 24–49. Rowland, C., & Fried-Oken, M. (2010). Communication Matrix: A clinical and re­ search assessment tool targeting children with severe communication disorders. Journal of Pediatric Rehabilitation Medicine, 3(4), 319–329. Stephenson, J., & Linfoot, K. (1996). Intentional communication and graphic symbol use by students with severe intellectual disability. International Journal of Disability, Development, and Education, 43(2), 147–165. Thelin, J. W., & Swanson, L. (2006). CHARGE syndrome. ASHA Leader, 11(14), 6–7. Watt, N., Wetherby, A., & Shumway, S. (2006). Prelinguistic predictors of language outcome at 3 years of age. Journal of Speech, Language, and Hearing Research, 49, 1224–1237. Wetherby, A. H., Cain, D. H., Yonclas, D. G., & Walker, V. G. (1988). Analysis of inten­ tional communication of normal children from the prelinguistic to the multiword stage. Journal of Speech and Hearing Research, 31(2), 240–252. Yoder, P. J., Warren, S. F., & McCathren, R. B. (1998). Determining spoken language prognosis in children with developmental disabilities. American Journal of Speech-Language Pathology, 7(4), 77–87.

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PART V

Psychological Issues in CHARGE Syndrome

B

y the middle of the 1990s, it was becoming clear that many of the behavioral features observed in some children with CHARGE were actually common. Parents and professionals began to search for guidance in coping with some severely challenging behaviors. By the end of the decade, the use of psychotropic medication in children with CHARGE was fairly widespread. Although great strides have been made, there is much more to learn about the behavioral issues in CHARGE. We begin this section with a look at the emerging behavioral phenotype of CHARGE (Chapter 27), followed by an examination of psychiatric issues and the use of medications in individuals with CHARGE (Chapter 28). The chapters on pain (Chapter 29) and stress (Chapter 30) address two sources of behavioral challenges. Some considerations for parenting children with CHARGE are presented in Chapter 31. Issues associated with the education of children and youth with CHARGE are discussed in Chapter 32.

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CHAPTER 27

Behavior TIMOTHY S. HARTSHORNE

INTRODUCTION Unusual or stereotypical behavior is often associated with genetic syndromes; therefore, it is not surprising that children with CHARGE syndrome (CS) exhibit characteristic behaviors. Sometimes the behaviors of individuals with genetic syndromes are lumped into psychiatric categories such as autism or obsessive-compulsive disorder (OCD). An alternative approach is to attempt to identify a collection of behavioral features associated with different syndromes. The identification and description of such a “behavioral phenotype” helps parents and professionals focus on the specific and distinct behaviors of a particular syndrome. While a behavioral phenotype may be observed, it is important to uncover why individuals with a particular syndrome might be likely to express certain similar behaviors. A behavioral phenotype is “A pattern of behavior that is reliably identified in groups of children with known genetic disorders and is not learned” (Harris, 1995). In other words, if a person shows a particular collection of behaviors, that may suggest a possible diagnosis (Harris, 2006). Children with Down syndrome, as a group, will exhibit different behaviors or behavioral patterns than children with CHARGE syndrome or Prader-Willi syndrome. For some disorders, aspects of the behavioral phenotype are well known; overeating in people with Prader-Willi syndrome, sociability in persons with Down syndrome, and musical talent among those with Williams syndrome are common examples. There is always a danger in overgeneralizing among a specific 413

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group of people. Because of a shared genetic condition, there are likely to be similarities. However, just as in the case of monozygotic twins, there will also be individual differences. Behaviors can also be acquired as other inherited traits, by modeling others, and from the environment. Three principles are important (Hodapp & Ricci, 2002). First, the effects of genetic disorders are “probabilistic,” not “deterministic.” While those with Prader-Willi syndrome are more likely than persons with other disorders to overeat, there are exceptions. Second, every genetic syndrome will not necessarily have its own unique behavior. Third, just because the behavior is commonly expressed by those with the syndrome does not mean it is genetically caused. When a child with CHARGE has behavior challenges, the question frequently asked is whether this behavior is a manifestation of CS or has other causes. There are four general sources of challenging behavior (Einfeld, 2004). First, the sensory and other physical challenges in children with CS affect how they experience and understand the world, and also the child’s ability to communicate with people. Not fully understanding what is taking place and the inability to accurately communicate can be scary and frustrating, leading to challenging behavior. Second, negative life experiences such as painful medical procedures or social relationship difficulties like bullying may lead to negative behavior. Third, environmental factors such as distractions, physical barriers, and poor acoustics can all influence behavior. Finally, there may be behavior patterns that are related to having a specific genetic disorder like CS, independent of the sensory and physical difficulties. All four sources operate continuously and interact with each other. Sorting out the influences on the unique behaviors of a specific person can be complicated for any child. The variability among persons with CS makes this task even more difficult. However, as we observe and study behavior in CS, certain similarities and patterns emerge. This chapter discusses a preliminary CHARGE Behavioral Phenotype, a model for understanding the typical behaviors, and an example of a fairly common behavior, hanging upside down.

A PRELIMINARY BEHAVIORAL PHENOTYPE There are seven features that make up the CHARGE behavioral phenotype. These are listed in Table 27–1. Low Normal Cognitive Functioning There is a wide range of ability in children with CHARGE, including cognitive ability (see Chapter 18). This can be attributed, in part, to many of the

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27. Behavior     415 Table 27–1.  A CHARGE Behavioral Phenotype Low normal cognitive functioning Very goal directed and persistent with a sense of humor Socially interested but immature Repetitive behaviors that increase under stress High levels of sensation seeking Under conditions of stress and sensory overload, find it difficult to self-regulate and easily lose behavioral control Difficulty with shifting attention and transitioning to new activities; easily lost in own thoughts

characteristics of CS, especially the multisensory impairments. What research exists has found a range of cognitive functioning, with a tendency toward the low normal range. As noted in Blake et al. (1998), this is a major shift from earlier presumptions that children with CS were all significantly cognitively impaired. Parents and educators should be optimistic about the ability of the child with CS to learn and be successful in school and in life. Very Goal Directed and Persistent With a Sense of Humor Children with CHARGE charge ahead. The following quote from David Brown nicely encapsulates this component of the phenotype: “I know of no identified sub-group within the population of people with multi-sensory impairment who have so many medical problems, of such complexity and severity, and with so many hidden or delayed difficulties, and yet no sub-group has shown such a consistent ability to rise triumphantly above these problems” (Brown, 1997). Children with CS persist in their intentions. This stubborn persistence helps them to learn to walk, to eat, and to achieve beyond all expectations. It also creates difficulties for parents and educators, for when these children have an idea of what they want (or do not want), they can have a lot of difficulty letting go of that idea. This is complicated by difficulties the child may have in expressing exactly what it is he or she wants. Parents and educators may recognize that there is something the child wants but may not be able to identify it, and must simply watch helplessly as the child’s behavior becomes more and more extreme until all control is lost. Fortunately, children with CS also demonstrate a ready sense of humor that can be infectious.

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Charge Sense of Humor Parents of children with CHARGE know to start running when they hear that laugh or giggle coming from wherever their child might be. Is the cochlear implant flushed down the toilet? Have more treasures been stuffed down the floor air vent? Is the phone now hidden in the trash? The CHARGE sense of humor is a bit mischievous. They also really enjoy setting people up. For example, Jeff loved math and was very good at it. “When he was still in High School his teacher would give him math worksheets to do. He could do them easily. Because he was so good at math, she would just skim the page and give him a happy face sticker. He got to where he would TEST the teacher. Every once in a while he would purposely put a wrong answer down. He’d wait as the teacher would go over his paper with him, and if she missed the one that was wrong, he’d just start laughing. Then he’d point to the one that was wrong. Once she caught on to his game, she made sure she didn’t skim the paper anymore. But he still would test her and laugh.” Jeff and another boy from his special needs class worked on job skills at McDonald’s. “They were each given a McDonald’s polo shirt to wear when they were working there. They were to change into their shirts before they left to walk to the McDonald’s. The other boy was usually later getting to the restroom to change than Jeff was. The shirts were kept in a cabinet in the restroom. Jeff would put on the other boy’s shirt and come out just laughing away. When the other boy saw that Jeff had on his shirt, he’d get upset and tell the teacher Jeff was wearing HIS shirt and Jeff would just bend over double laughing. Then he’d go change into his own McDonald’s shirt. He just enjoyed teasing the other boy.” They can also be stand-ups. “My 13-year-old does not do well with surprises, even pleasant ones, and playing it by ear is just not in her repertoire. One day we were driving to see a children’s play, and my husband asked if we were having dinner with my family afterward, and if so, would they be bringing their friends. I hesitated before answering, and in that moment of silence I hear my daughter from the backseat demand: ‘Talk to me!’” “Tim once asked what time it was. I said, ‘Look at the clock and tell me.’ He said, ‘I don’t know that time I only know Verizon time!’” Another example, “We were at a doctor appointment today. After some questions and answers, Nate said to the doctor, ‘I’m NOT a well-oiled machine.’ I think this sums up his sense of humor AND his life!”

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27. Behavior     417

3.  Socially Interested but Immature (see Chapter 19) Hartshorne and Cypher (2004) found that difficulty making same-age friendships was a frequent problem for children with CHARGE. When measured against children with autism or those who were deafblind from other conditions, Hartshorne, Grialou, and Parker (2005) found those with CS were much more interested in relating to others and having friendships. However, making friends is difficult for children with CS. They appear to have difficulty understanding the behavior, intentions, and communication from other children and often miss or misunderstand social cues. Multisensory impairments are undoubtedly part of the problem, as is communication. Learning to play nicely, take turns, and back off when necessary are all skills that typical children learn incidentally through observation and experience. However, these skills must be specifically taught to many children with hearing and/or vision loss, making them difficult to learn or grasp for those with CS (see Chapter 19). Repetitive Behaviors That Increase Under Stress Repetitive behaviors or apparently purposeless behaviors seem to be very common in CHARGE. Bernstein and Denno (2005) and Hartshorne and Cypher (2004) both found, for example, that ordering objects in a pattern was common. Other common repetitive behaviors observed by Bernstein and Denno included performing tasks in a certain order, eating specific foods at particular meals, following a set schedule, asking the same questions over and over, and being fascinated by numbers or dates. Bernstein and Denno found that these behaviors interfered with the daily life of some of the children and were extremely difficult to stop once they had started. Frequently, the children will react aggressively when attempts to redirect their behavior are made. Under conditions of stress, repetitive behavior may increase. Finding ways to reduce stress in children with CS may be one way to reduce repetitive behaviors (see Chapter 30). High Degree of Sensation Seeking Light flicking, hand flapping, body shaking, and rocking are among the selfstimulatory behaviors that are common in children with CHARGE. Hart­ shorne, Grialou, and Parker (2005) found higher average scores on the Autism Behavior Checklist (Krug, Arick, & Almond, 1993) for these kinds of behaviors in children with CS than in children who were deafblind from other conditions. Although increased over children with other forms of deafblindness, the levels in CS still did not reach the level of children with autism. Brown (2005) attributes these behaviors in part to sensory processing difficulties. Not only are multiple senses impaired in CS, sensory input is also not well

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Figure 27–1.  Due to tactile sensitivity, some children with CHARGE may find the touch of grass to be uncomfortable.

processed and integrated in the brain, so that the child may find loud noises painful, may want to move away from lots of visual stimulation, or may just focus on a particular light source (Figure 27–1). While self-stimulatory behaviors can clearly interfere with other activities, they may also function as a means of receiving enough sensory stimulation during the course of the day to compensate for poor functioning of some of the sensory modalities. They may also be an important means of regrouping and reorienting. For example, a hard-working student might suddenly drop everything and shake his or her whole body for a moment, and then be able to go back to work (Figure 27–2). Under Conditions of Stress and Sensory Overload, Find It Difficult to Self-Regulate and Easily Lose Behavioral Control Every person has a different threshold for arousal. Some people need a lot of poking and prodding to get out of bed in the morning, while others jump up in response to a soft tap. People also vary in their ability to tune out things

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27. Behavior     419

Figure 27–2.  Lying in a swing might provide helpful sensory stimulation.

in the environment. One person might be distracted by the background noise of a tapping pencil, while others remain totally focused on work even in the presence of a loud television. Maintaining equilibrium in the presence of varying activities and sensations is often difficult for individuals with CHARGE. They seem to experience both too little and too much stimulation and can rapidly shift from one extreme to the other. At one moment the child is happily watching a spinning light (too little, wanting more), and a split second later is pressing their face into the light and crying (suddenly too much). It is important to point out that loss of control may at times be due to physical pain the child is experiencing. Children with CS may have difficulties expressing pain directly (see Chapter 29).

Difficulty With Shifting Attention and Transitioning to New Activities; Easily Lost in Own Thoughts There are many reasons to become lost in one’s own thoughts. For someone with sensory impairments, it takes intensive concentration to stay focused on an external activity. But parents and educators have observed that sensory challenges do not seem to account for all of the difficulty children

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with CHARGE seem to have with managing their attention. Nicholas (2005) hypothesized that this was due to problems with the executive functions. Executive functions are the neurologically based operations that help to direct attention, memory, and the processing of information. Behavioral problems that arise from impaired executive functions include impulsivity and disinhibition, impaired judgment, deficient self-awareness, and difficulty making behavioral or mental shifts (Nicholas, 2005). Hartshorne, Nicholas, Grialou, and Russ (2007) found that children with CS have many difficulties with executive function in general, and in three areas in particular. One is the ability to shift, or to move freely from activity to activity or situation to situation. Problems with shift are revealed by poor problem-solving, rigidity, a need for consistent routines, and, in extreme cases, repetitive behaviors. A second function that is impaired in CS is the ability to initiate, or to start an activity, make a statement, or know how to respond or problem-solve in new situations and transitions. An example of a mild difficulty with initiate is a child who wants to begin a task but simply cannot get started. More extreme examples are difficulty clearly communicating what it is you want to say or needing multiple cues for an appropriate behavioral response. The third function that is most impaired is the ability to monitor, or to track one’s own actions and their impact on other people. Examples include careless schoolwork or not understanding how certain actions might bother other people.

BEHAVIOR TRIANGLE Hartshorne, Stratton, Brown, Madhavan-Brown, and Schmittel (2017) proposed a behavior triangle to suggest sources of behavioral disturbances in CHARGE (Figure 27–3). They placed pain at the top of the triangle because of its importance and frequency in CS (see Chapter 29). Untreated pain can cause extreme behavior, particularly in individuals who have problems expressing pain. Significantly, individuals with CS who routinely experience a great deal of pain may develop a tolerance for it until it becomes overwhelming, when severe behavior may suddenly appear (Stratton & Hartshorne, 2019). Sensory issues, placed at the base of the triangle, are another potential source of behavioral disturbances. Our sensory systems provide us with information about our environment. When that information is not processed well in the brain, confusion arises. As noted earlier, sensory input can shift from pleasurable to overwhelming in an instant. Apparently minor changes in the environment, such as a fan being turned on or the addition of new people in the room, can lead to sudden sensory overload and meltdowns. Anxiety is the third issue in behavior, also placed at the base of the triangle. This is largely due to the unpredictability of the individual’s life. With intact sensory systems, it is possible to be fully aware of what is happening, what just happened, and what is going to happen next. However, the multi-

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27. Behavior     421

Figure 27–3.  Behavior triangle. From Hartshorne, T. S., Stratton, K. K., Brown, D., Brown, S. M., and Schmittel, M. C. (2017). Behavior in CHARGE syndrome. American Journal of Medical Genetics Part C, 175, 431–438. Used by permission.

sensory impairments in CS mean that much of this information is incomplete or missing altogether. Not understanding what is going on or not knowing how events will unfold creates a great deal of uncertainty, confusion, and anxiety. Self-regulation is placed in the middle of the triangle to suggest that increasing regularity in the person’s life and helping them learn to manage it can help to reduce behavioral episodes. Managing pain, modulating senses, and making the day predictable can significantly reduce incidences of extreme behavior. Hanging Upside Down: When Odd Behavior Makes Sense A behavior that appears to be somewhat unique to CHARGE is hanging upside down, sometimes fully and other times only including the head (Fig­ ure 27–4). It provides a useful example of how odd or unusual behavior can make sense. There are muscles in the neck responsible for holding the head up and moving it around. If one is hanging upside down, these muscles are relaxed, the head is still, and the impact of missing or malformed semicircular canals is eliminated. Because coloboma of the retina primarily affect the upper visual field, hanging upside down allows one to see more directly out

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Figure 27–4.  Hanging upside down.

of the lower visual field and more straight ahead. Hanging upside down also changes proprioception, as the person can more distinctly feel different parts of their body. In other words, persons with CS figure out a solution to some of their problems that has not been taught. It is an unusual behavior, but that and similar positions are actually quite common in children with CS. Most of the children only engage in it for a short period of time and are calm. However, if adults in their environment object to the hanging and try to stop or redirect it, that action can lead to a behavioral meltdown. It is important to understand why a particular behavior might be expressed before attempts are made to change it.

CONCLUSION Too often, the behavior of a child with CHARGE is viewed as nonsensical. This is a mistake. It is also a mistake to assume a behavior is misbehavior—that it is

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27. Behavior     423 Table 27–2.  Thinking About Behavior Behavior does not just come out of nowhere: •  Always check for pain first. • Is this a behavior that needs to be modified or eliminated, or is it just inconvenient? •  When did the behavior start? Is it new, or of long standing? Or is it increasing? • Did something change in the person’s life at the same time the behavior began? • If the individual could put the behavior into words, what would the behavior be saying? • Does the behavior occur in multiple settings (home/school/classroom/ community)? What is different between settings? •  Does the behavior seem to help the person to function? •  Is this person’s life predictable? Is there a calendar system? •  How does the person handle change? •  Does the behavior resemble more of a temper tantrum or a meltdown? •  What happens before and after the behavior? Are there consequences? • Has the child learned that this behavior gets them something they want, or helps them to avoid something they do not like? •  What does our response to the behavior communicate to the individual?

an attempt to be naughty or bad. Of course, all children engage in misbehavior, and adults can generally identify why. However, behaviors like hanging upside down, smearing feces, picking at skin, and showing sudden aggression are not random acts. These behaviors are doing something for the child. It is our job to figure out what the behavior is communicating about the state of the child. Table 27–2 shows the kind of thinking that can help identify the purpose of the behavior. More resources on behavior are available from the CHARGE Syndrome Foundation (https://www.chargesyndrome.org/for -families/behavior/ ). School psychologists may be most helpful in assisting with behavioral intervention in children. For adults it is important to find a psychologist who understands the impact of disability, and in particular sensory impairment, on behavior.

REFERENCES Bernstein, V., & Denno, L. S. (2005). Repetitive behaviors in CHARGE syndrome: Differential diagnosis and treatment options. American Journal of Medical Genetics Part A, 133(3), 232–239. 

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424     CHARGE SYNDROME Blake, K. D., Davenport, S. L. H., Hall, B. D., Hefner, M. A., Pagon, R. A., Williams, M. S., . . . & Graham, J. M. (1998). CHARGE association: An update and review for the primary pediatrician. Clinical Pediatrics, 37(3), 159–173. Brown, D. (1997). CHARGE association. Talking Sense, 18–20. Brown, D. (2005). CHARGE syndrome “behaviors”: Challenges or adaptations? American Journal of Medical Genetics Part A, 133(3), 268–272. Einfeld, S. L. (2004). Behavior phenotypes of genetic disorders. Current Opinion in Psychiatry, 17(5), 343–348. Harris, J. C. (1995). Developmental neuropsychiatry. New York, NY: Oxford University Press. Harris, J. C. (2006). Intellectual disability: Understanding its development, causes, classification, evaluation, and treatment. New York, NY: Oxford University Press. Hartshorne, T. S., & Cypher, A. D. (2004). Challenging behavior in CHARGE syndrome. Mental Health Aspect Developmental Disability, 7(2), 41–52. Hartshorne, T. S., Grialou, T. L., & Parker, K. R. (2005). Autistic-like behavior in CHARGE syndrome. American Journal of Medical Genetics Part A, 133(3), 257– 261. Hartshorne, T. S., Nicholas, J., Grialou, T. L., & Russ, J. M. (2007). Executive function in CHARGE syndrome. Child Neuropsychology, 13(4), 333–344. Hartshorne, T. S., Stratton, K. K., Brown, D., Madhavan-Brown, S., & Schmittel, M. C. (2017). Behavior in CHARGE syndrome. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(4), 431–438. Hodapp, R. M., & Ricci, L. A. (2002). Behavioral phenotypes and educational practice: The unrealized connection. In G. O’Brien (Ed.), Behavioral phenotypes in clinical practice (pp. 137–151). London, UK: Mac Keith Press. Krug, D. A., Arick, J. R., & Almond, P. J. (1993). Autism screening instrument for educational planning (2nd ed.). Austin, TX: Pro-Ed. Nicholas, J. (2005). Can specific deficits in executive functioning explain the behavioral characteristics of CHARGE syndrome: A case study. American Journal of Medical Genetics Part A, 133(3), 300–305. Stratton, K. K., & Hartshorne, T. S. (2019). Identifying pain in children with CHARGE syndrome. Scandinavian Journal of Pain, 19, 157–166.

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CHAPTER 28

Psychiatric Treatment SUSAN WILEY

INTRODUCTION Einfeld (2004) proposed a framework for understanding challenging behav­ iors across a number of genetic syndromes. This framework noted vulner­abilities related to the presence of an intellectual disability, a child’s life expe­ riences, factors within the individual’s immediate environment, and factors conveyed through a genetic mechanism. These aspects can apply to children with CHARGE, with the recognition that the degree of cognitive impact can vary considerably. It is also important to recognize that most individuals with CS also have multiple sensory impairments (hearing, vision, and balance impair­ ments) that also impact behavior.

PSYCHIATRIC CHARACTERISTICS Children and adolescents with CHARGE have been described as having multi­ ple medical diagnoses and behavioral and social-emotional challenges at higher rates than the general population. Individuals with CS have been described as being very goal directed, persistent, and humorous. They are socially inter­ ested but may exhibit social skills in a manner more immature than their chronologic age (see Chapter 27). Individuals with CS can have a high degree of sensation-seeking behaviors but can also become overloaded and lose 425

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control when experiencing sensory overload or stress. They may have repeti­ tive behaviors that can increase when stressed and can have difficulty shifting attention or transitioning to new activities (see Chapter 27). Individuals with CHARGE have a wide range of cognitive abilities, execu­ tive functioning, emotional regulation, functional vision, functional hear­ ing, and complex communication needs and competencies. This complexity impacts the ability to build a clear diagnostic determination. The presence of a multisensory impairment (Brown, 2005) that spans vision, hearing, smell, vestibular processing, temperature awareness, and proprioceptive aware­ ness adds significant complexity in both interpreting and treating behavioral problems. Individuals with CHARGE have been described as having a high tolerance for pain but may experience more frequent and intense pain experiences (see Chapter 29). Some individuals with CS may have difficulty communicat­ ing the different types of pain which may prompt an underreporting of this experience (T. S. Hartshorne, Stratton, Brown, Madhavan-Brown, & Schmit­ tel, 2017). Furthermore, in the presence of facial nerve palsy, caregivers may not be able to rely on facial expressions to guide recognition of pain. Fatigue, which can vary day to day and setting to setting, can also prompt “behav­ iors.” Onset of a new behavior may indicate a change in hearing or vision or a response to pain. The experience of frequent and chronic medical conditions can impact a child’s experiences as well as the types of opportunities for skill develop­ ment. Medical conditions can also present as a new behavior. In these situ­ ations, treating the behavior in isolation does not get to the core issue and will be less likely to be effective. If a behavior that started from a medical or health concern is inadvertently reinforced, the behavior can persist after the medical/health concern has resolved. Behavioral approaches and interven­ tions are important to use in these situations. Difficulties with sleep can be associated with daytime behaviors (Stein, Mendelsohn, Obermeyer, Amromin, & Benca, 2001; see Chapter 22). With a high rate of sleep difficulties in children with CHARGE, a good sleep history and consideration of sleep should be a part of every comprehensive related to behavioral challenges.

MANAGEMENT When considering behavioral challenges in children with CHARGE, it is impor­ tant to take a multifaceted view to help understand the behavior and what it may represent (Table 28–1). A broad differential of possibilities ensures more clarity to hone in on a potential treatment approach.

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Table 28–1. Commonly Described Mental Health Conditions and Behaviors Noted in Children and Adults With CHARGE Syndrome Mental Health Condition/Behavior

Rates

Publications

Anxiety

19%

Wachtel, Hartshorne, & Dailor, 2007

31%

Souriau et al., 2005 (often seems anxious)

45%

N. Hartshorne et al., 2016

37%

Blake et al., 2005

50%

T. S. Hartshorne, Hefner, & Davenport, 2005

43%

Blake, Salem-Hartshorne, Daoud, & Gradstein, 2005

49%

N. Hartshorne et al., 2016

14%

Bernstein & Denno, 2005

26%

N. Hartshorne et al., 2016

16%

Smith, Nichols, Issekutz, & Blake, 2005

30%

Richards, Jones, Groves, Moss, & Oliver, 2015

11%

Wachtel et al., 2007

54%

Souriau et al., 2005 (always on the move)

26%

N. Hartshorne et al., 2016

40%

Wachtel et al., 2007

40%

Souriau et al., 2005

61%

Thelin & Fussner, 2005 (self-stimulatory)

54%

van Dijk & de Kort, 2005

47%

N. Hartshorne et al., 2016

38%

Souriau et al., 2005

51%

N. Hartshorne et al., 2016

Sleeping difficulties

59%

N. Hartshorne et al., 2016

Depression

8%

N. Hartshorne et al., 2016

Tics

17%

N. Hartshorne et al., 2016

Obsessive-compulsive disorder/behaviors

Autism spectrum disorder

Attention deficit hyperactivity disorder

Self-injury

Aggression

427

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Diagnosis Approaches to address the impact of these various complexities in under­ standing behavioral challenges and mental health conditions can be imple­ mented. A comprehensive history, observations in natural settings, a functional behavioral assessment, and gathering information from a variety of perspec­ tives can refine our understanding toward the development of a treatment approach. Interviews and assessment tools from the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-V) have not generally been validated in children with dual-sensory impairment. However, ignoring structured assessment tools and approaches may contribute to the possibil­ ity of clinicians overlooking key diagnostic features and criteria to make an accurate diagnosis. When using tools that have not been validated on popula­ tions, clinical experience with a broad population of children with CS can allow interpretation of individual items on these standardized measures. This approach ensures that tools are interpreted in the context of the child’s overall complexities, strengths, and environment factors. This, in turn, pro­ vides a clearer picture of the child’s needs, which is crucial for building an intervention plan. While diagnostic labels can help frame understandings and approaches, interventions that support improved functional and day-to-day outcomes should be the goal. The impact of mental health difficulties on quality of life and daily functioning has been described (N. Hartshorne et al., 2016). One third of adolescents and adults in this CHARGE cohort described anxiety, emotions, and sleep as major sources of limitation in daily activities. Difficul­ ties with anxiety and emotions have been described as impacting relation­ ships with family members and peers, as well as limiting social acceptance and social participation. Because the issues with CHARGE are so complex, clinicians and families may need to start with a diagnostic consideration and then use a trial-anderror approach with iterative learnings to craft an effective pathway forward. A review of meaningful assessment tools for children with CS is beyond the scope of this chapter. However, relying on clinicians with expertise in deaf­ blind education and those who can perform a functional behavioral analysis can provide meaningful information and important behavioral and develop­ mental supports to achieve a common goal (Bernstein & Denno, 2005; van Dijk & de Kort, 2005). Consistent implementation of routines and visual sup­ ports are important for most individuals with CS. T. Hartshorne et al. (2017) described a number of problem behaviors within the realm of physical behaviors (hitting, throwing, biting, self-injury, resistance), verbal behaviors (repetitive speech, yelling), and nonverbal behav­ iors (pacing, coming into another person’s personal space, withdrawal from others or activities). Other common behavioral presentations in children with CS include tactile sensitivity that can improve over time, always being on the move, always needing to be busy, getting enjoyment from throwing objects,

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touching or grabbing others, having difficulty waiting, and liking to have things in the same place (Souriau et al., 2005). Some of these behaviors may be attributed to aspects of multisensory impairment in children with CS. For example, the absence of semicircular canals commonly noted in children with CS impacts balance. This is akin to a bicycle, which stays upright when moving and falls down when stopped. Attrib­ uting a high motoric activity to symptoms of attention deficit hyperactivity disorder (ADHD) may misattribute differences in balance to a neurobiologic difference of ADHD. However, if we do not consider that ADHD could also be playing a role in a child’s behaviors, then we may miss an opportunity to consider supports and approaches to allow improved functional outcomes. Psychiatric diagnoses have been described in individuals with CS (Ta­­ ble 28–1). Conditions most commonly described included anxiety disorders, obsessive-compulsive disorder (OCD), autism spectrum disorder (ASD), and ADHD. Less commonly reported diagnoses include tic disorders, bipolar dis­ order, schizophrenia, borderline personality disorder, oppositional defiant disorder, and major depressive disorder. Parents report a number of diagno­ ses; however, the process and accuracy of these diagnoses have not been described in existing reports. Considerations for Psychotropic Medication and Behavioral Intervention Despite apparent high rates of these mental health conditions in individuals with CHARGE, relatively few (19%) of those reporting mental health difficul­ ties were actively in treatment with mental health specialists (N. Hartshorne et al., 2016). Finding providers who can either partner with those with exper­ tise in deafblind populations or in those who can directly and effectively com­ municate with individuals with CS is incredibly challenging. Building effective mental health systems of care for those who are deaf and deafblind is com­ plex (Mathos & Pollard, 2016). In the field of child psychiatry and developmental-behavioral pediatrics, practice patterns are limited by available evidence in the field, the number and types of studies evaluating the impact and effectiveness of medications in children, U.S. Food and Drug Administration (FDA) approval process for medication use in pediatrics, and diagnostic uncertainty that can occur in an ever-evolving and developing child brain. In short, both evidence and information are lacking for children in general and children with disabilities in particular. The literature on children and adults with CHARGE has sought an under­ standing of psychotropic medication use. Wachtel et al. (2007) used survey data to obtain information from families on diagnoses and medication use in individuals with CS. This study noted a relatively high rate (43%) of psycho­ tropic medication use among 89 respondents. Furthermore, polypharmacy

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(being on two or more psychotropic medications) occurred in 59% of indi­ viduals with CS who were prescribed medications compared with 24% of the non-CS population. The classes of medications prescribed include antidepres­ sants (56%), antihypertensives (32%), antipsychotics (30%), mood stabilizers (16%), stimulants (8%), and benzodiazepine class anxiolytics (8%). This rate of psychotropic medication use and lack of diagnostic clarity for prescribing medications are similar to other populations of individuals with developmen­ tal disabilities (Deb et al., 2009). More information is critically needed to gain a better understanding of prescribing patterns, rationale for medication use, and effectiveness of medications on targeted outcomes in the CHARGE population. When gathering information on diagnoses and psychotropic medi­ cation use in populations of children, studies rely on data from insurance coding and prescription benefits. This can help understand practice patterns. However, this type of data can be difficult to interpret, as providers may use the closest appropriate diagnostic code within health records but prescribe medications in a symptom-targeted manner rather than according to the diagnosis code. Clinicians may discuss behavioral and medication treatment options with families using a target behavior framework. Priorities for treatment may include the impact of a target behavior on domains such as safety, participa­ tion, learning, and overall family stress. A child may exhibit a behavior that is seen as different from the general population, but if it is not interfering with day-to-day activities, this may not be a behavior that needs to be changed. The questions to ask include: “Is the behavior a problem?” or “In what way is the behavior a problem?” These questions can help us step back and determine whether an intervention is needed. Intervention includes behavioral inter­ vention, with or without additional medical intervention. Psychotropic medication should not be considered a stand-alone approach to challenging behavior, as when stopping or reducing medication doses, behaviors are likely to return. Behavioral supports and interventions are criti­ cal to help children with CS learn strategies to self-regulate, increase frustra­ tion tolerance, and build tools and approaches for more effective responses. Teaching replacement behaviors for maladaptive behaviors is an important consideration. When an individual with CS is receiving behavioral treatment, data and information from treatment can identify target behaviors that are interfering with progress (such as anxiety or impulsivity). Effective commu­ nication across treating providers, including teachers and therapists, as well as inclusion of families, allows better refinement of medication use when implemented. Shared decision-making (Opel, 2018; Wyatt et al., 2015) is a premise that is highly encouraged when considering interventions for behavioral difficul­ ties and mental health conditions. The field is limited in knowing the best options for treatment, and children with CHARGE may not be able to report side effects and effectiveness of treatments. Therefore, a shared understand­ ing of treatment goals and priorities, as well as a robust discussion of various

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interventions that could be considered, is foundational when working with individuals with CS and their families. The Autism Treatment Network (Autism Speaks, 2019) has developed a comprehensive framework for families of children with autism spectrum disor­ ders to guide shared decision-making (utilizing family and clinician collabora­ tion) on the use of psychotropic medications for challenging behaviors. This shared decision-making tool (ATN/AIR-P Medication Decision Aid) describes behaviors that may be improved with medications and others that are not typically helped by medication. This toolkit provides guidance for families in considering how a child’s behaviors are having an impact, as well as the extent of that impact. It also allows families to consider their priorities and needs, which provides a foundation for more robust discussions with their medical provider. The guide includes questions to consider about medica­ tions, including administration techniques, costs, side effects, duration of action, interactions with other medications, the need for any specific moni­ toring, and the likely length of treatment. Shared decision-making should include a discussion of all management options and what would be expected from each option. It is important to dis­ cuss the rationale behind various treatment approaches, as well as the risks and benefits that each pose for the individual with CS. The discussion should consider the impact on the person with CS, as well as their family and care providers, particularly related to quality of life. It is important to include the individual with CS in decision-making and understanding the treatment plan at a level they can participate. This may require more time and a variety of strategies to relay information. Because individuals with CS can have coexisting medical complexities (such as congenital heart disease, renal abnormalities, central nervous system abnormalities, and vestibular differences), side effect profile, safety profile, and interactions with other medications should be specifically considered and monitored. Clearance from medical subspecialists may be needed. It is critical to engage in behavioral therapy and implementation of a be­­ havioral management plan founded on a functional behavioral assessment. Med­­­­ication should not be a replacement for behavioral interventions. Behavioraltreating providers can provide greater clarity on target behaviors that are amenable to medication management. Table 28–2 describes potential target behaviors and associated classes of medications that have been used for spe­ cific behaviors. It is important to be thoughtful when prescribing medication. The tendency to avoid medication when indicated can negatively impact quality of life. Alternatively, the practice of overprescribing medications and polypharmacy without clear effectiveness and indications can inadvertently negatively impact quality of life due to side effects and oversedation. When considering problem behaviors, clinicians should consider onset (recent onset or a long-standing behavior), severity, intensity, duration, setting/ circumstances, and functional impact of the behavior. Understanding the circum­ stances in which a behavior improves and worsens provides some information

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Table 28–2.  Target Behaviors and Associated Class of Prescription Medications Target Behavior

Medication Classes Targeting the Behavior

Sleep

Alpha agonists Serotonin reuptake inhibitors Antidepressants Alpha-2 antagonist Hypnotics Antihistamines Benzodiazepines

Anxiety

Alpha agonists Selective serotonin reuptake inhibitors

Obsessive-compulsive behaviors

Selective serotonin reuptake inhibitors

Impulsivity

Stimulants Alpha agonists

Hyperactivity

Stimulants Alpha agonists Selective norepinephrine reuptake inhibitor

Self-injurious behaviors

Alpha agonists Atypical antipsychotics Opioid antagonist

Aggressive behaviors

Alpha agonists Atypical antipsychotics

Tics

Alpha agonists Atypical antipsychotics

Explosive behaviors

Stimulants Atypical antipsychotics

Depression

Selective serotonin reuptake inhibitors

Mood lability

Atypical antipsychotics Anticonvulsants Antimanic/mood stabilizers

432

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28. Psychiatric Treatment      433

for formulating an appropriate intervention plan. Triggers for behaviors should be considered. Asking if there have been any changes that could be prompting a behavior can guide the identification of triggers. In addition to behavioral and environmental factors, triggers such as medical conditions, side effects of cur­ rent medications, pain, and change in vision or hearing should be considered. In formulating the next steps of treatment, it is helpful to understand what has already been attempted to address behaviors of concern. Even in the situation where an appropriate treatment approach has been imple­ mented, it is helpful to gain an understanding of adherence to treatment pro­ tocols (behavioral interventions or taking medications), as well as intensity and duration of treatments. If an individual has a clear mental health diagnosis and behavioral inter­ ventions have not sufficiently improved functioning and quality of life, the Table 28–3.  Side Effect Profiles and Considerations of Classes of Psychotropic Medication Medication Class

Side Effects

Considerations

Alpha agonists

Sedation, decreased heart rate, decreased blood pressure

Rebound hypertension with abrupt stop

Stimulants

Decreased appetite, headache, stomachache, paradoxical reaction, increased anxiety

Can be used when needed Cardiac clearance if coronary heart disease, family history Monitoring of growth (height and weight) Monitoring of blood pressure and heart rate Many contraindicated in glaucoma

Selective serotonin reuptake inhibitors

Gastrointestinal side effects, somnolence, activation, serotonin syndrome

Black box warning

Atypical antipsychotics

Increased appetite, increased weight, premetabolic disorder, constipation, dystonic reaction, tardive dyskinesia

Requires blood monitoring, abnormal involuntary movement monitoring.

Serotonin syndrome

Some with interactions with agents cause risk for prolonged QT interval.

Source: Lexicomp. (2019). Wolters Kluwer Clinical Drug Information, Inc. Retrieved from https://www.wolterskluwercdi.com/lexicomp-online/

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Box 28–1  Systematic Approach to Medication Management in Children `and Adults With CHARGE Syndrome Identification of Problem/Target Behavior/ Mental Health Condition Selection of medication should be based on the target behavior or identified mental health condition, as well as goals and priorities of family and individual with CHARGE syndrome. Considerations for Selecting a Medication n Frequency of administration (daily, as needed) n Administration (oral, g-tube) n Timing of administration n Side effect profile n Drug-drug interactions

Starting Medication n Ensure behavioral supports are implemented instead of

relying solely on medication. n Give consideration if a behavior requires medication on a

regular basis or on an as-needed basis (i.e., behavior is infrequent but severe). n Consider the timing and administration of dosing with fami-

lies and individuals with CHARGE, particularly taking into consideration other medications and daytime activities. n Administration of medication and adherence should be

achievable within the context of the child’s needs, as well as considering family and environmental factors. n Discussions with families and individuals should include

the available evidence to support a medication option and the presence or absence of FDA guidelines for using medication for a specific indication.

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28. Psychiatric Treatment      435

n Side effect profile and adverse reactions should be dis-

cussed with a plan generated on what to do if these occur. n Medications should be started with standard recommenda-

tions for dosage parameters and within the framework of “starting low and going slow.” n Prescribe one medication at a time if at all possible (avoid

polypharmacy). n If more than one class of medication is needed, selection

should be based on symptoms that cannot be treated with a simplified regimen. Prescribing two medications in the same class should be avoided, if possible. n Duration of treatment should be considered when starting

medication. n Follow-up intervals and monitoring should be discussed

and established. n Symptom/behavior monitoring tool for pre- and postmedica-

tion trial should be used when available. Follow-Up and Medication Monitoring The goal of follow-up is to determine effectiveness (outcomes/ response), side effects, and adverse reactions and to consider timing for weaning medication. n Administer an assessment/monitoring tool for the target

behavior, if available. n Identify whether medication helped the target behavior,

made the behavior worse, or prompted no change. n Administer a side effects monitoring tool, if available and

indicated. n Review side effect profile experienced and make adjustments,

if indicated. n Review any changes in medications since prior visits. n Perform any required side effect monitoring (i.e., weight,

blood pressure, blood tests, abnormal movements, serotonin syndrome). n Stop an ineffective medication before starting a new medication.

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436     CHARGE SYNDROME

Simplification of Existing Medications and Polypharmacy n Are there medications that can impact the same target

behavior and allow a simplification of the number of medications administered? n If more than one class of medication is needed, selection

should be based on symptoms that cannot be treated with a simplified regimen. n Prescribing two medications in the same class should be

avoided, if possible. n Are there medications that are being used to treat side

effects of another medication? n Weaning or stopping medications should be considered

and reconsidered at intervals. n Trials of decreasing dose or weaning should be considered

at intervals. n Weaning or stopping medications should be done one at a

time, if possible.

diagnosis should be used to guide medication selection. A structured, stepwise approach to prescribing medication with close monitoring of side effects and effectiveness is strongly encouraged (see Box 28–1). Table 28–3 describes classes of medications, along with potential side effects and considerations. Starting medications at low doses with incremental increases is an approach that can build an effective medication plan. Medications that are not effective should be stopped and/or weaned rather than adding more medications to the plan. This approach can be helpful in avoiding unnecessary polypharmacy. There are times when multiple medications are needed and indicated. In all psychotropic medication use, it is important to review the impact and effec­ tiveness at intervals. As children build skills and strategies, medication weans can be considered. It is best if one provider is responsible for prescribing psy­ chotropic medications. This ensures a systematic approach and limits fragmen­ tation of care and confusion on goals and priorities of care.

CONCLUSION Children and adults with CHARGE frequently experience challenging behav­ iors and mental health conditions. A broad-based approach should include an

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28. Psychiatric Treatment      437

understanding of medical conditions and complexities, as well as behavioral analysis founded in recognition of the impact of multisensory impairment on behavioral presentations. It is important to build a strong collaborative approach that includes individuals with CS, family members, behavioral pro­ viders, and medical providers.

REFERENCES Autism Speaks Autism Treatment Network. (n.d.). ATN/AIR-P medication decision aid. Autism Speaks. Retrieved from https://www.autismspeaks.org/tool-kit/atnair-p -medication-decision-aid Bernstein, V., & Denno, L. S. (2005). Repetitive behaviors in CHARGE syndrome: Dif­ ferential diagnosis and treatment options. American Journal of Medical Genetics Part A, 133(3), 232–239. Blake, K. D., Salem-Hartshorne, N., Daoud, M. A., & Gradstein, J. (2005). Adolescent and adult issues in CHARGE syndrome. Clinical Pediatrics, 44(2), 151–159. Brown, D. (2005). CHARGE syndrome “behaviors”: Challenges or adaptations? American Journal of Medical Genetics Part A, 133(3), 268–272. Deb, S., Kwok, H., Bertelli, M., Salvador-Carulla, L., Bradley, E., Torr, J., & Barnhill, J. (2009). International guide to prescribing psychotropic medication for the man­ agement of problem behaviours in adults with intellectual disabilities. World Psychiatry, 8(3), 181–186. Einfeld, S. L. (2004). Behaviour phenotypes of genetic disorders. Current Opinion in Psychiatry, 17(5), 343–348. Hartshorne, N., Hudson, A., MacCuspie, J., Kennert, B., Nacarato, T., Hartshorne, T., & Blake, K. (2016). Quality of life in adolescents and adults with CHARGE syn­ drome. American Journal of Medical Genetics Part A, 170(8), 2012–2021. Hartshorne, T. S., Stratton, K. K., Brown, D., Madhavan-Brown, S., & Schmittel, M. C. (2017). Behavior in CHARGE syndrome. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(4), 431–438. Hartshorne, T. S., Hefner, M. A., & Davenport, S. L. (2005). Behavior in CHARGE syn­ drome: Introduction to the special topic. American Journal of Medical Genetics Part A, 133(3), 228–231. Lexicomp. (2019). Wolters Kluwer Clinical Drug Information, Inc. Retrieved from https://www.wolterskluwercdi.com/lexicomp-online/ Mathos, K. K., & Pollard Jr, R. Q. (2016). Capitalizing on community resources to build specialized behavioral health services together with persons who are deaf, deafblind or hard of hearing. Community Mental Health Journal,  52(2), 187–193. Opel, D. J. (2018). A 4-step framework for shared decision-making in pediatrics. Pediatrics, 142(3), S149–S156. Richards, C., Jones, C., Groves, L., Moss, J., & Oliver, C. (2015). Prevalence of autism spectrum disorder phenomenology in genetic disorders: A systematic review and meta-analysis. Lancet Psychiatry, 2(10), 909–916. Smith, I. M., Nichols, S. L., Issekutz, K., & Blake, K. (2005). Behavioral profiles and symptoms of autism in CHARGE syndrome: Preliminary Canadian epidemiological data. American Journal of Medical Genetics Part A, 133(3), 248–256.

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438     CHARGE SYNDROME Souriau, J., Gimenes, M., Blouin, C., Benbrik, I., Benbrik, E., Churakowskyi, A., & Churakowskyi, B. (2005). CHARGE syndrome: Developmental and behavioral data. American Journal of Medical Genetics Part A, 133(3), 278–281. Stein, M. A., Mendelsohn, J., Obermeyer, W. H., Amromin, J., & Benca, R. (2001). Sleep and behavior problems in school-aged children. Pediatrics, 107(4), e60. Thelin, J. W., & Fussner, J. C. (2005). Factors related to the development of commu­ nication in CHARGE syndrome. American Journal of Medical Genetics Part A,  133(3), 282–290. van Dijk, J. P., & de Kort, A. (2005). Reducing challenging behaviors and fostering efficient learning of children with CHARGE syndrome. American Journal of Medical Genetics Part A, 133(3), 273–277. Wachtel, L. E., Hartshorne, T. S., & Dailor, A. N. (2007). Psychiatric diagnoses and psychotropic medications in CHARGE syndrome: A pediatric survey. Journal of Developmental and Physical Disabilities, 19(5), 471–483. Wyatt, K. D., List, B., Brinkman, W. B., Lopez, G. P., Asi, N., Erwin, P., . . . LeBlanc, A. (2015). Shared decision making in pediatrics: A systematic review and metaanalysis. Academic Pediatrics, 15(6), 573–583.

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CHAPTER 29

Pain KASEE K. STRATTON

INTRODUCTION All individuals encounter varying degrees of pain experiences throughout their lives, from acute or short-term illness and injuries, to long-term chronic pain. Individuals rate and experience pain differently and in a variety of ways, making pain a complex topic that relies on subjective reporting. Beyond the subjective nature of pain, in order to seek assistance, management, or treatment for pain, individuals often must be able to self-report pain to another— maybe a parent, teacher, or physician. Self-report is considered the “gold standard” of patient pain management (Bottos & Chambers, 2006). For individuals with developmental disabilities, identifying and managing pain can be complicated by limited communication abilities and by atypical reactions to pain, such as laughing rather than crying. An impaired capacity to self-report a painful experience can result in underrecognized and undertreated pain, which is the case for 15% of adults with intellectual disability and 35% to 50% of children with a range of developmental disabilities (Breau, Camfield, McGrath, & Finley, 2003; McGuire, Daly, & Smyth, 2010). Many individuals with CHARGE syndrome (CS) have communication limitations that may impact their ability to self-report pain. Further, given their multisensory impairments, including vision loss, individuals with CS may miss opportunities to observe how others respond to painful experiences, limiting their ability to imitate models of seeking support. 439

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440     CHARGE SYNDROME

While it has long been thought that individuals with CHARGE have a high pain threshold, it is likely they experience pain similar to or at a greater rate than other individuals with and without developmental disabilities. Research indicates that children with developmental disabilities are at a greater risk for experiencing frequent and severe pain related to physical impairments, additional comorbidities, and medical procedures necessary to manage their conditions (Baldridge & Andrasik, 2010; Breau et al., 2003; Stallard, Williams, Lenton, & Velleman, 2001). This is no different for individuals with CS. This chapter highlights the complexities and importance of identifying pain in CS, discusses what we know of the pain experience, and concludes with suggestions for teaching self-report of pain and future research directions.

IDENTIFYING PAIN IN CHARGE SYNDROME Pain identification is necessary to ensure appropriate and immediate management. When left under- or untreated, pain can have a significant impact on medical treatment decisions, duration of recovery, and the development of challenging or problematic behaviors (e.g., self-injury, aggression). It can result in reduced attachment, diminished adaptive functioning, limited ability to attend to educational materials, and anxiety, depression, and traumatic stress (Breau, Camfield, McGrath, & Finley, 2007; Kassam-Adams, 2006; Kennedy & O’Reilly, 2006; Oberlander & Symons, 2006; Palermo, 2000; Porter, Davis, & Keefe, 2007; Power, McGoey, Heathfield, & Blum, 1999; Stratton & Hartshorne, 2018). Given the importance of pain in so many aspects of daily living, it is important to explore the complex nature of identifying pain in CS. Individuals with CHARGE often present with expressive communication deficits or delays (see Chapters 24, 25, and 26). Some individuals are unable to communicate any of their wants and needs, some may use a single expressive communicative approach, and others may use some combination of sign language, speech, picture exchange, augmentative and alternative communication devices, gestures, and grunts/vocalizations. In the first investigation of pain in CS, parents of 53 children with CS completed questionnaires on their children regarding pain (Stratton & Hartshorne, 2018). Fifty-five percent of participants could use some form of communication to express discomfort. Notably, a third of those who could express discomfort could only report acute pain; they were unable to express chronic pain. Unfortunately, this suggests that approximately half of individuals with CS may not have a specific sound, word, or behavioral indicator of pain recognized by caregivers, ultimately increasing the likelihood that pain will remain under- or untreated due to self-report limitations. This is further confounded by long-term or chronic pain that might be unrecognized due to the inability to self-report. Additionally, Stratton and Hartshorne (2018) reported that while 75% of parents indicated they could determine when their child with CS was in pain, nearly a

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quarter were unable to determine if their child experienced discomfort. No parent rated that they were able to identify chronic pain. This suggests the need for additional strategies to identify pain in this population. Another important consideration in the pain puzzle is the multisensory impairments associated with CHARGE, specifically vision and hearing loss. When you are unable to see your environment or portions of your environment and your hearing is inadequate to fill in the missing information, you are likely to have delays in modeling behaviors or events that happen around you. This is no different for understanding and expressing pain. Children with developmental delays may not have acquired help-seeking skills because of the combination of limited socialization and medical issues early in life that require frequent invasive surgical interventions. As a result, the expression of pain is likely to be affected by reduced opportunities for social interaction and observational learning that (in typical children) model help-seeking behaviors (Craig, 2006). This modeling and pairing in the environment is what gives us our socially constructed understanding of pain. This understanding is likely to be disrupted or constructed in a different way for individuals with multisensory losses. Unfortunately, this means parents, caregivers, physicians, and the like are on the lookout for behaviors that would be typical indicators of pain (e.g., crying, inconsolable) but might not be a part of the pain construct for individuals with CS. When an individual presents with limited expressive communication, physicians and caregivers often turn to facial expressions such as a grimacing face or furrowed brow to identify pain. Facial expressions are considered the most consistent signs of pain displayed by children with disabilities (Breau, Finley, McGrath, & Camfield, 2002). Unfortunately, for individuals with CHARGE, this is also likely to further complicate the identification of pain. Facial palsy is present in approximately 40% of individuals with CS (Hartshorne, Hefner, Davenport, & Thelin, 2011). Individuals with facial palsy may not be able to make the facial expressions necessary for others to identify their pain experience. Cleft lip or inability to make direct eye contact (due to central vision loss) can further complicate the situation. It is commonly noted in the research literature that nonpreferred behaviors, often called challenging or problematic behaviors, increase when individuals are unable to express their wants and needs to others or are otherwise frustrated. In many cases, these behaviors may serve as an individual’s attempt to communicate discomfort and to seek support or assistance. Behaviors such as apparent aggression or self-injury can be related to pain and may also serve as an indicator of pain (e.g., Cook, Niven, & Downs, 1999; Symons & Danov, 2005). In the CHARGE population, many children and adults develop challenging behavior, including obsessive-compulsive behaviors, tantrums, self-injury, aggression, and disruptive vocal and motor responses (Hartshorne, Hefner, & Davenport, 2005; Lauger, Cornelius, & Keedy, 2005; van Dijk & de Kort, 2005). As of the writing of this chapter, no literature exists to understand the relationship between acute or chronic pain and challenging behavior;

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442     CHARGE SYNDROME

therefore, it is unknown how pain in CS may impact the maintenance of these behaviors across time. Relatedly, it is unknown how prolonged pain or a history of challenging behaviors impact positive coping responses. Many of these challenging behaviors likely serve as communicators of pain and the need for assistance. The complexities of identifying pain in CHARGE are quite similar to other developmental disorders in which communication limitations are present. An objective assessment of pain is required; one that includes multidimensional pain assessment tools and avoids the use of self-report measures. Neurotypical children are often confused by self-report approaches to pain assessment (e.g., facial scales and numerical ratings), with approximately only 64% of children demonstrating understanding (Fanurik, Koh, Harrison, Conrad, & Tomerun, 1998). Fanurik et al. (1998) report that of children with mild cognitive impairments, only 20% were able to understand self-report assessments, and no child with a moderate to severe intellectual disability was able to rate their pain severity. Therefore, professionals should be discouraged from only using a self-report measure when working with individuals with CS to pinpoint pain. Quinn, Seibold, and Hayman (2015) note that relying on objective methods to assess pain and planning to manage the subjective experience later creates opportunities for providing optimal pain management. Appropriate identification of the pain by those who will treat the pain experience— nurses, physicians, parents, caregivers—must occur exclusive of self-report. Multidimensional pain assessment tools that measure varying behavioral indicators of pain (e.g., physiologic arousal, changes in eating and sleeping patterns, vocal, social, and activity levels) have been found to be valuable objective measures of pain (e.g., Cascella, Bimonte, Saettini, & Muzio, 2019; Quinn et al., 2015). Using parents as raters of pain behavior, Stratton and Hartshorne (2018) investigated two commonly used multidimensional assessments for children with CHARGE: the Noncommunicating Children’s Pain Checklist Revised (NCCPC-R; Breau, McGrath, Finley, & Camfield, 2004) and the Pediatric Pain Profile (PPP; Hunt, 2003). Parents provided measures of pain on each instrument on two occasions: (a) when their child was not suspected of being in pain and having what a parent would describe as a “great day” and (b) when the child had experienced an event that would likely produce pain (e.g., pinching finger in the car door, documented ear infection, fall, etc.). Both instruments were found to be accurate measures of pain in CS, with nearly all items showing an increase in scores (as would be expected for pain) and noting a large effect size. However, parents also described ele­ vations in challenging behaviors, including aggression, self-injury, and dangerous behaviors, which are not well assessed on the NCCPC-R and PPP. Further, the NCCPC-R and PPP did not display a meaningful difference for other behaviors/assessment items (flexing inward/drawing legs up, stereotypical movements/jumping/seizures, flopping, shivering, and jumping around/agitation). This suggests these items may not be appropriate to measure pain in CS.

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Moreover, they might reduce the reliability and validity of these instruments for individuals with CS. The CHARGE Non-Vocal Pain Assessment (CNVPA; Stratton, 2012) was developed as a CS-specific multidimensional pain assessment tool. The CNVPA is a 30-item assessment composed of five sections that target vocal, social, facial, activity/challenging behaviors, and body and limbs/physiologic changes. The CNVPA has been found to have strong reliability in the CS population, high stability across retest intervals, and meaningful difference scores between no pain ratings and painful experiences. The CNVPA discriminates adequately from other nonvocal pain measurements that have been completed by the CS population (NCCPC-R and PPP). It is recommended that parents, caregivers, and medical teams complete the CNVPA frequently when pain is not suspected to identify the individual’s baseline behaviors. Items that are elevated during baseline are not likely indicators of pain and represent typical behavior. When the CNVPA is administered when pain is suspected or known (documented medical condition such as an ear infection, injury, etc.), assessors should determine which items have the most significant difference scores from baseline. These are likely to be the best indicators of pain behavior for that particular individual with CS. See the Appendix for a copy of the CNVPA.

PAIN EXPERIENCES IN CHARGE Professionals and family members of individuals with CHARGE have long described painful experiences. According to Stratton and Hartshorne (2018), sources of pain in CS may include falls from poor balance, repeated medical procedures and surgeries necessary to manage symptoms, extended hospital stays, and postsurgery recovery. Many operations are considered significant medical procedures with elevated risk for complications, including open heart surgery. Given the medical complexities of CS, it is valuable to not only continue to investigate pain for this population but to also consider the impacts of acute (short-term) and chronic (long-term) pain experiences. In the first-ever investigation of pain in CHARGE, 94% of 53 parents rated their child as experiencing pain of some degree (Stratton & Hartshorne, 2018). When describing pain on a “good day” (when the child appears to be feeling well), 47% of parents reported that their child had no pain, 45% reported mild pain, and nearly 8% reported moderate pain. Further, when asked about the frequency of pain-free days, nearly 8% reported their child “hardly ever” had pain-free days; 17% reported pain-free days “some of the time,” approximately 60% reported pain-free days “most of the time,” and 15% reported their child had pain-free days “all the time.” This suggests that individuals with CS are likely prone to chronic pain experiences. Individuals with CS were reported by parents to have several sources of chronic pain, including gastroesophageal reflux, difficulty swallowing and breathing, hip/

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Figure 29–1.  There are many sources of pain for children with CHARGE.

back pain, abdominal migraines, and muscle pain (Stratton & Hartshorne, 2018; Figure 29–1). Beyond chronic pain, individuals with CHARGE also experience varying degrees of pain intensity, with migraines rated as the most intense pain source, followed by abdominal migraines, constipation, surgery pain, ear infections (otitis media), sinusitis, and gastroesophageal reflux. Difficulty breathing, hip and back pain, muscle pain, coughing, jaw discomfort, and difficulty swallowing were reported to produce the least intense pain for individuals with CS. Stratton and Hartshorne (2018) found that pain intensity increased for sources that were more acute or of a shorter duration. Caution is reported with this statement, however, as no parent/caregiver felt confident in their ability to identify chronic pain for their child with CS, which could impact ratings of pain intensity for long-term pain. As a result, additional investigations are needed to better understand chronic painful conditions in CS and how these conditions

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may influence behavioral cues for pain across time. If left untreated, these conditions could well lead to increases in self-injury and other challenging behaviors.

TEACHING SELF-REPORT OF PAIN As previously stated, individuals with CHARGE may have communication limitations that prevent their ability to self-report pain. We, as educators, therapists, medical professionals, and caregivers, must be mindful to engage in purposeful teaching of communication of pain to individuals with CS by pairing painful experiences with an appropriate communication approach (i.e., picture, sign, or word). This often means incidental teaching, or teaching in the moment the discomfort occurs. If individuals with CS have a history of self-injurious, aggressive, or dangerous behaviors when discomfort occurs, it is recommended that caregivers seek the support of a behavioral psychologist or a behavioral specialist/analyst who can assist with specialized behavioral assessments (i.e., functional analyses). These professionals can help minimize and identify the functions of challenging behaviors. They can also design an intervention plan to manage pain and teach appropriate communication approaches for seeking assistance with pain. It is our responsibility to ensure individuals with CHARGE can anticipate and are prepared for painful experiences such as medical procedures (e.g., immunizations, blood draws, dental appointments) and surgeries. Visual calendar schedules and social stories can guide individuals through the procedures and planning of a hospital stay. Similarly, visual calendars can be implemented to indicate when the patient will return home. If being at the hospital is traumatizing or elevates anxiety for individuals with CS, it is recommended that families support them by “rehearsing” nonpainful trips to the hospital. Such trips may include opportunities to exclusively visit the hospital cafeteria for lunch or preferred foods, shop at the gift store, or explore fun, interactive spaces in the hospital. Additionally, families should consider requesting the support of child life specialists and/or seeking active distractors available at the hospital, such as virtual reality or video games, that might mediate pain.

FUTURE RESEARCH DIRECTIONS Future research of pain in CHARGE is warranted. While Stratton and Hart­ shorne (2018) have begun the investigation of understanding this complex topic, much is left to be expanded on throughout the life span. Age-related changes in sources of pain are unknown, as well as how communication

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approaches to indicate pain change over the life span. Further, there is a need for educational and behavioral approaches that teach and support communication to facilitate patient self-reports of pain. Treatments or interventions to remediate or reduce discomfort from medical procedures and therapies, such as active distraction, have not been investigated for individuals with CS, but they show promising results for other populations. Although additional validation of the CNVPA is needed across the life span and postoperatively, when compared to other multidimensional pain scales such as the NCCPC-R, the CNVPA has potential to support medical teams, parents, educators, therapists, and others to assist with identifying pain.

REFERENCES Baldridge, K. H., & Andrasik, F. (2010). Pain assessment in people with intellectual or developmental disabilities. American Journal of Nursing, 110(12), 28–35. Bottos, S., & Chambers, C. T. (2006). The epidemiology of pain in developmental disabilities. In T .F. Oberlander & F. J. Symons (Eds.), Pain in children and adults with developmental disabilities (pp. 67–87). Baltimore, MD: Paul H. Brookes Publishing. Breau, L. M., Camfield, C. S., McGrath, P. J., & Finley, G. A. (2003). The incidence of pain in children with severe cognitive impairments. Archives of Pediatrics and Adolescent Medicine, 157(12), 1219–1226. Breau, L. M., Camfield, C. S., McGrath, P. J., & Finley, G. A. (2007). Pain’s impact on adaptive functioning. Journal of Intellectual Disability Research, 51(2), 125–134. Breau, L. M., Finley, G. A., McGrath, P. J. & Camfield, C. S. (2002). Validation of the noncommunicating Children’s Pain Checklist—Postoperative Version. Anesthesiology, 96(3), 528–535. Breau, L., McGrath., P. J., Finley, G. A., & Camfield. C. S. (2004). Non-communicating Children’s Pain Checklist—Revised (NCCPC-R). Lynn Breau. Cascella, M., Bimonte, S., Saettini, F., & Muzio, M. R. (2019). The challenge of pain assessment in children with cognitive disabilities: Features and clinical applicability of different observational tools. Journal of Paediatrics and Child Health, 55(2), 129–135. Cook, A. K., Niven, C. A., & Downs, M. G. (1999). Assessing the pain of people with cognitive impairment. International Journal of Geriatric Psychiatry, 14(6), 421–425. Craig, K. D. (2006). The construct and definition of pain in developmental disability. In T. F. Oberlander & F. J. Symons (Eds.), Pain in children and adults with developmental disabilities (pp. 7–18). Baltimore, MD: Paul H. Brookes Publishing. Fanurik, D., Koh, J. L., Harrison, R. D., Conrad, T. M., & Tomerun, C. (1998). Pain assessment in children with cognitive impairment: An exploration of self-report skills. Clinical Nursing Research, 7(2), 103–119. Hartshorne, T. S., Hefner, M. A., & Davenport, S. L. H. (2005). Behavior in CHARGE syndrome: Introduction to the special topic. American Journal of Medical Genetics Part A, 133(3), 228–231.

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29. Pain     447 Hartshorne, T. S., Hefner, M. A., Davenport, S. L. H., & Thelin, J. W. (2011). Introduction. In T. S. Hartshorne, M. A. Hefner, S. L. H. Davenport, & J. W. Thelin (Eds.), CHARGE syndrome (pp. xi–xv). San Diego, CA: Plural Publishing. Hunt, A. (2003). Paediatric Pain Profile. Oxford, UK: RCN Institute. Kassam-Adams, N. (2006). Introduction to the special issue: Posttraumatic stress related to pediatric illness and injury. Journal of Pediatric Psychology, 31(4), 337–342. Kennedy, C. H., & O’Reilly, M. F. (2006). Pain, health conditions, and problem behavior in people with developmental disabilities. In T. F. Oberlander & F. J. Symons (Eds.), Pain in children and adults with developmental disabilities (pp. 121– 138). Baltimore, MD: Paul H. Brookes Publishing. Lauger, K., Cornelius, N., & Keedy, W. (2005). Behavioral features of CHARGE syndrome: Parents’ perspectives of three children with CHARGE syndrome. American Journal of Medical Genetics Part A, 133(3), 291–299. McGuire, B. E., Daly, P., & Smyth, F. (2010). Chronic pain in people with an intellectual disability: Under-recognised and under-treated? Journal of Intellectual Disability Research, 54(3), 240–245. Oberlander, T. F., & Symons, F. J. (2006). An introduction to the problem of pain in developmental disability. In T. F. Oberlander & F. J. Symons (Eds.), Pain in children and adults with developmental disabilities (pp. 1–4). Baltimore, MD: Paul H. Brookes Publishing. Palermo, T. M. (2000). Impact of recurrent and chronic pain on child and family daily functioning: A critical review of the literature. Journal of Developmental and Behavioral Pediatrics, 21, 58–69. Porter, L. S., Davis, D., & Keefe, F. J. (2007). Attachment and pain: Recent findings and future directions. Pain, 128(3), 195–198. Power, T. J., McGoey, K. E., Heathfield, L. T., & Blum, N. J. (1999). Managing and preventing chronic health problems in children and youth: School psychology’s expanded mission. School Psychology Review, 28(2), 251–263. Quinn, B. L., Seibold, E., & Hayman, L. (2015). Pain assessment in children with special needs: A review of the literature. Exceptional Children, 82(1), 44–57. Stallard, P., Williams, L., Lenton, S., & Velleman, R. (2001). Pain in cognitively impaired, non-communicating children. Archives of Disease in Childhood, 85(6), 460–462. Stratton, K. K. (2012). The initial validation of a non-vocal, multidimensional pain assessment instrument for individuals with CHARGE syndrome [Unpublished doctoral dissertation]. Central Michigan University. Stratton, K. K., & Hartshorne, T. S. (2018). Identifying pain in children with CHARGE syndrome. Scandinavian Journal of Pain, 19(1), 157–166. Symons, F. J., & Danov, S. E. (2005). A prospective clinical analysis of pain behavior and self-injurious behavior. Pain, 117(3), 473–477. van Dijk, J. P., & de Kort, A. (2005). Reducing challenging behaviors and fostering efficient learning of children with CHARGE syndrome. American Journal of Medical Genetics Part A, 133(3), 273–277.

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CHAPTER 30

Stress KASEE K. STRATTON

INTRODUCTION Throughout the life span, individuals with CHARGE syndrome (CS) experience many stressors. In the early years of life, there are seemingly endless invasive and often high-risk medical procedures, hospital stays, and doctor visits. In the preschool years, there may be fewer surgeries, but medical visits continue, and therapy appointments are added on to manage the complex conditions associated with CS. Once school begins, children are exposed to an increasing emphasis on complex academics and demand for more time ontask, even as medical visits and therapy appointments continue to disrupt the academic day. It is not unusual for challenging behaviors to first surface or intensify as demands increase and communication limitations still present a barrier to expressing wants and needs. Peer interactions and supportive friends may be difficult to acquire and maintain due to physical, communication, and sometimes cognitive delays. Beyond these challenges, many individuals with CS experience considerable chronic and episodic pain throughout their lives (Stratton & Hartshorne, 2019; see Chapter 29). Given the additive impacts of these pressures, there is reason to expect that individuals with CS experience a great deal of stress throughout their lives. How that stress manifests may be different for each child, adolescent, or adult with CS. Parents are often left to recognize and manage each concern described previously, serving not only as parent but also as case manager, advocate, and medical consultant for their child. Each of these roles carries added stressors 449

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for parents and caregivers. Beyond this, parents themselves face many traumatizing medical encounters as they watch their baby, child, adolescent, and adult with CHARGE undergo complex, often painful and/or life-threatening, procedures. Clearly, individuals with CS and their parents face not only heightened stress, but also risk for post-traumatic stress disorder (PTSD).

POST-TRAUMATIC STRESS DISORDER Virtually nothing has been published on the experience of stress in children with disabilities. Much of the literature on stress in children focuses on PTSD. PTSD is believed to occur when an individual has experienced a threat to his or her own life or a threat to physical integrity (Americal Psychiatric Association, 2013). PTSD symptomology can also occur after witnessing a threat to life of another, such as viewing a car accident. While often thought of in relation to war-related trauma and natural disasters such as earthquakes or hurricanes, the antecedents or triggers to PTSD can be vast. Some attention has been drawn to the development of PTSD and symptomology related to post-traumatic stress in children with life-threatening diseases such as cancer or liver failure (e.g., Pelcovitz et al., 1998; Saxe, Vanderbilt, & Zuckerman, 2003; Stallard, 2006). PTSD symptoms in children are often expressed behaviorally, for example, by loss of emotional regulation, poor attention, physical complaints, and self-injurious behavior (Cohen, 1998; Stallard, 2006). Trauma may also interfere with an individual’s capacity to integrate sensory, emotional, and cognitive information as a comprehensive whole (van der Kolk, 2005). As a result, children may exhibit delayed or atypical social, physical, and adaptive behaviors in response to PTSD. There are several potential sources of PTSD for individuals with CHARGE. Beginning in infancy, many have acute medical conditions requiring multiple surgeries and frequent, often long-term, hospital stays that can produce traumatic stressors over time. Some medical conditions and procedures are life threatening, adding to parental stress and trauma. Normal parent-child bonding is disrupted, and children are too young to understand what is happening to them. Many of the medical issues have protracted recovery periods, including chronic pain or other discomfort. Many individuals with CS do not have the communication skills necessary to self-report their pain or discomfort, which can lead to poor pain management (Stratton & Hartshorne, 2019; see Chapter 29). Severe or chronic pain experiences alone could account for the development of post-traumatic stress symptoms. As they get older and are in more social situations, individuals with CHARGE may be bullied more often than other children. As with all individuals with a development disability, children with CS may be at increased risk for physical or sexual abuse (e.g., Hershkowitz, Lamb, & Horowitz 2007; Mahoney & Poling, 2011). In interviews with 10 adolescents and adults with

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CS, Stratton and Hartshorne (2010) identified several stressors, with themes emerging across a number of areas. First, communication difficulties were noted at school and in social situations, limiting interactions with others and often resulting in the need for parents to advocate for communication supports at school and in the home. A second theme involved school personnel not understanding the student’s multisensory impairments and not appreciating their impact on the student’s academic, social, and adaptive behavior (especially combined hearing and vision loss). Exhaustion was also commonly discussed, with all interviewees stating how quickly they became tired at school from the effort involved in concentrating given their hearing and vision losses and other issues (i.e., low muscle tone, poor balance, physical limitations, pain). This led to the interviewees describing behavioral breakdowns or emotional immaturity and the need for breaks throughout the day. One adult stated, “In high school I would cry a lot. I would just get so upset.” Last, themes revolved around the desire for additional social interactions and friendships. The challenges of their communication limitations and emotional regulation difficulties combined with time for therapies and medical procedures ultimately reduced their social interactions, contributing to difficulities in establishing friendships. Taken together, these stressors and others that might be present in the individual’s environment, as well as additional adverse or traumatic experiences, elevate the concern for the development of post-traumatic stressors for individuals with CHARGE. It is valuable to note that individuals with CS may not exhibit symptoms severe enough to warrant a PTSD diagnosis, either because they do not have PTSD, or because their disabilities and communication limitations mask their symptoms. In either case, their experiences may be very similar to PTSD and have an impact on their well-being and behavior. While it is likely that individuals with CHARGE experience a great deal of stress, and may in fact develop symptoms of PTSD, it is difficult to document. Behavioral concerns are common discussions among parents, caregivers, educators, and service workers, yet little is known about how behavior changes after medical procedures, chronic pain, or exposure to traumatic experiences. Behavioral reactions are likely to increase in stressful situations. These behavioral changes should be recognized as possible reactions to stress or pain and be used as guides to possibly alter the environment (see Chapters 7 and 27). Future research is needed to investigate the relationship between traumatic experiences or adverse life events and post-traumatic symptomology for individuals of all ages with CS.

PARENTAL STRESS Similar to stressors encountered by individuals with CHARGE are stressors and traumatic encounters for parents. The need to serve as an advocate to

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support their child and witness their child’s stress, while also managing their own stressful and traumatic experiences, is likely to increase symptoms of concern for parents. Children develop through interacting with their parents, and parents’ behavior is shaped by their interactions with the child and environment. In a study of parents of 22 individuals with CS, Wulffaert and colleagues (2009) found parenting stress was high in approximately 60% of parents. This compares to about 15% of parents of typical children. Parents of children with behavioral issues reported higher stress levels. The authors did not find any association with other characteristics investigated (level of intellectual disability, hearing or vision loss, or age). There was a weak (not statistically significant) association between higher parental stress and nonspeaking children. The authors concluded that professional support for parents, especially to manage behavioral problems, is essential to reduce pa­ rental stress levels. Post-traumatic stress symptomology and the development of PTSD has been documented in parents of medically complex children or those undergoing invasive procedures. A meta-analysis of 16 studies conducted by Cabizuca, Marques-Portella, Mendlowicz, Coutinho, and Figueira (2009) noted a combined prevalence of PTSD for mothers and fathers of 22%. When considered separately (11 studies), mothers had a PTSD prevalence of 19%, while fathers (5 studies) had a prevalence rate of 11%. Overall, the combined studies found that about one out of four parents who had a child with chronic illness, disease, or invasive procedures met criteria for a diagnosis of PTSD. A meta-analysis of 184 studies (Pinquart, 2019) concluded that parents of children with chronic physical illnesses had about a 20% chance of meeting criteria for PTSD, more than a sevenfold increase when compared with PTSD in the general population. Very few of these studies focus on disorders as complex as CHARGE. Another review, which is perhaps more directly relevant to CS, identified studies reporting anywhere between 30% and 80% of parents of children with congenital heart defect reporting distress (Kolaitis, Meentken, & Utens, 2017). In most cases, a vast majority of the study participants were mothers. Available data in the literature are likely an underrepresentation of fathers’ stressors (Macfadyen, Swallow, Santacroce, & Lambert, 2011). It should be noted that parents who engage in avoidance symptoms or who are too busy supporting their child’s medical and health care needs may not be seeking support or participating in such studies. It is quite possible that the above data are an underestimate of post-traumatic stressors in parents of chronically ill children. Like other chronic illnesses, parents of individuals with CHARGE may have recurring traumas that impair their ability to fully participate in their child’s care and in their own care, and their ability to fully understand medical guidelines (Kazak et al., 2004). Parents may experience symptoms such as arousal and avoidance due to thoughts of their child dying (or learning of another child with CS dying), intensive care admissions, intrusive medical procedures, and the pain their child is experiencing. It is unknown how

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relapses or repeat hospital admissions impact the outcomes of these stressors for caregivers. Additionally, parent mental health issues can lead to healthrelated, long-term behavioral and cognitive difficulties in their children ( WoolfKing, Anger, Arnold, Weiss, & Teitel, 2017). Research is needed on the impact of parent-child variables, as well as sibling and extended supports (i.e., grandparents), on stressors, mental health, and post-traumatic stress symptomology.

CONCLUSION Individuals with CHARGE have many stressors to manage and cope with throughout their lives. When communication is limited or reduced, it is especially important to remember that behavior serves as a form of communication. Aggressive outbursts, loss of emotional control, and self-destructive behaviors may indicate the individual is under intense stress and/or pain. Environmental modifications should be considered to help reduce stressful experiences and to teach positive coping strategies and communication to elicit support. Parents and others should seek professional support as early as possible when there are behavioral concerns. Parents of individuals with CHARGE have an elevated risk of developing PTSD themselves. Being the primary medical and educational case manager, concerns related to their child’s well-being, along with other life stressors, are all extremely demanding. Parents should be screened early and often to determine their need for mental health support, access to a support network for CS, and coping resources to maintain quality of life. Identifying and treating post-traumatic stress symptoms in children with CS and their parents needs additional investigation and should be considered an area of high priority.

REFERENCES American Psychiatric Association. (2013). Diagnostic and statistical manual of men­ tal disorders (5th ed.). Washington, DC: Author. Cabizuca, M., Marques-Portella, C., Mendlowicz, M. V., Coutinho, E. S., & Figueira, I. (2009). Posttraumatic stress disorder in parents of children with chronic illnesses: A meta-analysis. Health Psychology, 28(3), 379–388. Cohen, J. A. (1998). Practice parameters for the assessment and treatment of children and adolescents with posttraumatic stress disorder. Journal of the American Academy of Child and Adolescent Psychiatry, 37(10), 4S–26S. Hershkowitz, I., Lamb, M. E., & Horowitz, D. (2007). Victimization of children with disabilities. American Journal of Orthopsychiatry, 77(4), 629–635.

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454     CHARGE SYNDROME Kazak, A. E., Alderfer, M., Rourke, M. T., Simms, S., Streisand, R., & Grossman, J. R. (2004). Posttraumatic stress disorder (PTSD) and posttraumatic stress symptoms (PTSS) in families of adolescent childhood cancer survivors. Journal of Pediatric Psychology, 29(3), 211–219. Kolaitis, G. A., Meentken, M. G., & Utens, E. M. W. J. (2017). Mental health problems in parents of children with congenital heart disease. Journal of Frontiers in Pe­ diatrics, 5, 102. Macfadyen, A., Swallow, V., Santacroce, S., & Lambert, H. (2011). Involving fathers in research. Journal for Specialists in Pediatric Nursing, 16(3), 216–219. Mahoney, A., & Poling, A. (2011). Sexual abuse prevention for people with severe developmental disabilities. Journal of Developmental and Physical Disabilities, 23(4), 369–376. Pelcovitz, D., Libov, B. G., Mandel, F., Kaplan, S., Weinblatt, M., & Septimus, A. (1998). Posttraumatic stress disorder and family functioning in adolescent cancer. Journal of Traumatic Stress, 11(2), 205–221. Pinquart, M. (2019). Posttraumatic stress symptoms and disorders in parents of children and adolescents with chronic physical illnesses: A meta-analysis. Journal of Traumatic Stress, 32(1), 88–96. Saxe, G., Vanderbilt, D., & Zuckerman, B. (2003). Traumatic stress in injured and ill children. PTSD Research Quarterly, 14(2), 1–7. Stallard, P. (2006). Post-traumatic stress disorder. In C. Gillberg, R. Harrington, & H. C. Steinhausen (Eds.), A clinician’s handbook of child and adolescent psychia­ try. (pp. 221–245). Cambridge, UK: Cambridge University Press. Stratton, K. K., & Hartshorne, T. S. (2010). Experiencing stress in CHARGE. In T.S. Hartshorne, M. A. Hefner, S. L. H. Davenport, & J. Thelin (Eds.), CHARGE syn­ drome. San Diego, CA: Plural Publishing. Stratton, K. K., & Hartshorne, T. S. (2019). Identifying pain in children with CHARGE syndrome. Scandinavian Journal of Pain, 19(1), 157–166. van der Kolk, B. A. (2005). Developmental trauma disorder. Psychiatric Annuals, 35, 401–408. Woolf-King, S. E., Anger, A., Arnold, E. A., Weiss, S. J., & Teitel, D. (2017). Mental health among parents of children with critical congenital heart defects: A systematic review. Journal of the American Heart Association, 6(2), e004862. Wulffaert, J., Scholte, E. M., Dijkxhoorn, Y. M., Bergman, J. E. H., van RavenswaaijArts, C. M. A., & van Berckelaer-Onnes, I. A. (2009). Parenting stress in CHARGE syndrome and the relationship to child characteristics. Journal of Developmental and Physical Disabilities, 21(4), 301–313.

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CHAPTER 31

Parenting TIMOTHY S. HARTSHORNE

INTRODUCTION Very little in the parenting literature addresses the experience of raising a child with significant disabilities, let alone conditions as complex as CHARGE syndrome (CS). While this is understandable given the small size of the affected population, these are caregivers very much in need of assistance and support to deal with the challenges of parenting. There are several aspects of raising a child with CHARGE that make parenting particularly challenging (Figure 31–1). First, some parenting techniques are very difficult to implement with a child who has multiple medical issues along with significant disabilities. For example, talking with a child about their behavior is problematic if the child has poor or limited communication skills; isolation in time out may not be possible for a child who is medically at risk and needs continuous observation and monitoring, or may be ineffective if the child prefers to be by themselves; and using food as a reinforcer is not helpful if the child is tube fed. Second, parents may have a tendency to excuse challenging behavior because of their child’s disability and the hardships they have been through, especially if the child has experienced serious medical complications. If the child has a heart defect, for example, the parent may be tempted to give in to demands and temper tantrums out of consideration for the challenges the child experiences. Some parents may have invested a great deal of time and energy during the early years of their child’s life just to keep the child alive and, as a 455

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Figure 31–1. Even from the beginning, figuring out how to parent a child with CHARGE can be challenging.

consequence, have lower standards of behavior for their child. In other words, there may be a tendency to spoil a child with CHARGE. The parents themselves may be exhausted from the shock of having a child with disabilities, the struggles of dealing with associated medical issues (procedures, appointments, therapies) and medical insurance, and keeping a household (and possibly other children) afloat. They have little energy left over for teaching their child to behave. Third, parents may experience problems specifically related to the parentchild bond. Due to deafblindness, developmental delay, and/or challenging behavior, some children with CHARGE may not be very responsive to their parents, which can lead to difficulties with attachment and bonding (see Chapter 19). Parents may feel rejected by their child and their child’s behavior and become frustrated trying to parent them. Parents of children with CHARGE struggle on two fronts. They often experience guilt about their failure to produce and advance a “normal” child, as well as a poor self-image if they feel they are not doing a good enough job raising their child. Another struggle these parents face is trying to understand and make sense out of the rather unusual and challenging behaviors many children with CS display. Very challenging behavior is often associated with genetic

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syndromes, and CS is no exception (Moss, Oliver, Arron, Burbidge, & Berg, 2009; see Chapter 27). For example, when faced with severe aggression on the part of the child, parents may not know whether to attribute it to their own failures as parents, to the personality of the particular child, some particular unrecognized issue with the child (e.g., pain), or to the syndrome itself. Pedersen, Crnic, Baker, and Blacher (2015) conducted a longitudinal study of families with a child with a developmental delay. There were 234 children at time one (age 3 years) and 171 at time two (age 8 years). The authors found evidence of change and adaptation by parents over the years. However, three key issues—parenting stress, parental psychological symptoms, and marital satisfaction—were all critical to family adaptation and functioning. Professionals working with parents need to be cognizant of these barriers, as well as how to best support family adjustment to having a child with disabilities. In this chapter, we address the importance of understanding the parent experience, recognizing family needs, and engaging networks of support.

THE PARENT EXPERIENCE The challenge for parents of children with CHARGE (and other disabilities) is to learn to do two things simultaneously. They need to be able to love their child with no need or expectation that their child will get any better or make any progress. If a child is only loved for what the parent hopes they will become, he or she can never be appreciated for who they are. It is not easy for parents to give up expectations for what they need their child to become. But failure to do so can mean lack of acceptance for who the child is. At the same time, parents must never give up hope that with lots of focused effort and attention, their child can progress and make headway in development. If parents do not expect anything of their child, the child is unlikely to make a great deal of progress. But it is very hard to do these two simultaneously: to accept and be content with the child’s level of development, and yet to work as hard as possible to help the child progress further. Hartshorne (2002) has described how the behavior of parents of children with significant disabilities like CHARGE, as they reconcile these two goals, may sometimes appear to professionals as denial. “Why does that parent fail to insist that their deaf child wear a hearing aide at all times? Have they given up?” “Why does that parent insist we keep using sign language with their child when there has been no progress? Are they in denial?” In fact, courage is not denial, and parents of children with significant disabilities must have the courage to know their child’s limits and accept their potential. And all the while, parents worry that they may not have enough of what their child needs. Parents benefit from and appreciate professionals who take the time to understand not only the struggle of parents to figure out how to enjoy their child while they push their child and everyone else to do better, but also the constant

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Figure 31–2.  In spite of stress, parents enjoy their children.

guilt parents experience over not doing enough of either. Parents are hard enough on themselves. They do not need their shortcomings pointed out to them by professionals. What they do need is permission and help to develop the courage to be imperfect; the courage to recognize that they are doing the best that they can, and it is enough (Figure 31–2).

FAMILY NEEDS In a survey of more than 400 parents, Bailey, Blasco, and Simeonsson (1992) identified six distinct family needs for mothers: family and social support, informational needs, financial needs, explaining to others, childcare, and professional support. In their study, “need for information” was ranked first by

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parents, and this was replicated in families with children with disabilities by Hartshorne (2000). This does not mean that professionals should simply inundate parents with information. It is not unusual for parents to have a stack of brochures and flyers provided by different offices and professionals that is too overwhelming to organize or even examine. Recognizing this, the CHARGE Syndrome Foundation (2016) prepared a “New Parent Packet” in an attempt to provide succinct, but not overwhelming, information as a first step for families with a new diagnosis. Professionals should help parents identify their own questions and then provide answers to those questions. In addition, it is helpful to instruct parents on how to search for and access accurate information (e.g. useful search terms), and to be able to distinguish accurate from misleading information. Hartshorne (2002) recounts the story of a parent who was told by the physician of their child with CHARGE to stop looking at information on the Internet and just listen to him. The parent found a new physician. Recognizing these areas of need and anticipating them becoming potential problems for parents are essential to provision of care and support. Professionals should be familiar with what resources are available to address parent needs in their community. This is sometimes accomplished through networks.

NETWORKING CHARGE is a rare and complex disorder—most people outside affected fami­ lies are unaware of the existence of CS. Perhaps for this reason families with children with CS gravitate to one another, either directly or indirectly, to form a variety of social support networks within communities and online. According to Dunst, Trivette, and Cross (1986), “There is general consensus among social systems theorists that social support networks function to nurture and sustain linkages among persons that are supportive on both a day-today basis and in times of need and crises” (p. 403). Importantly, they found the presence of supportive social networks for parents of children with cognitive or physical impairments to be associated with better personal wellbeing, both emotional and physical. Impressively, the children of parents with supportive social networks were more likely to make developmental progress over the course of a year. In addition, parents with more supportive networks perceived their children as having fewer physical limitations, being more socially accepted by others, and having fewer negative behaviors and personality characteristics. Social support networks may consist of family, friends, other parents in similar situations, and professionals. In most communities, services to individ­ uals with disabilities are offered through a number of agencies, including schools, medical practices, and mental health facilities. To varying degrees, the individuals and organizations providing such services may network with each

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other to coordinate, expand, or enrich what is provided, but many organizations operate independently and are unaware of services offered by others. Parents of these children may also link together through chance encounters at doctors’ offices, hospitals, schools, or even grocery stores. They may also discover the existence of online groups in similar situations. Parent networking may become formalized through support groups or remain informal. Often these networks are accessed when parents are making decisions concerning services for their child and need information about the quality and options available. Parents may also connect through attendance at various CHARGE syndrome conferences (Figure 31–3).

Figure 31–3.  Some families find networking opportunities by attending various CHARGE conferences.

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While the professional and parental networks may remain distinct, they may also overlap. This can happen when parents are invited to serve as repre­­ sentatives on various boards or agencies, such as the interagency coordinating councils for early childhood services. It can also happen when a professional is able to establish a trusting relationship with one or more members of the informal parent network, who may invite the professional to join their groups. Professionals should consider the benefits of being a part of the disability network by providing information and support, attending conferences or joining boards, and meeting with families. First, this demonstrates an interest in providing total support. Second, it means parents will have access to accurate information. Third, a professional who has gained the trust of parents in the network will have influence over how services are developed, implemented, and accessed in the community. And finally, parents and professionals together can be a strong political force to increase and improve services.

PARENTING Hartshorne and Schafer (2018) identified some of the central parenting skills for raising a child with severe disability: building communication, establishing a routine, disciplining, getting connected with supports, and acceptance and advocacy. Communication is fundamental to relationships as well as to learning. Communication is also more than spoken language. The challenge for parents is establishing a relationship that allows them to communicate with their child, whether it be through words, signs, pictures, gestures, behaviors, or some combination of these. One method might work well, or total communication may best support communication development (see Chapter 24). Within the relationship, parents need to know how to build mutual understanding with their child. The multiple sensory impairments (hearing, vision, balance) present in most individuals with CHARGE are barriers to understanding what is happen­ ing in the surrounding environment. The resulting uncertainty is anxiety pro­­ voking (see Chapter 27). Establishing a predictable routine is a way to make life easier to understand and less anxiety provoking. We wake up, we bathe, we dress, we eat, and so on. When routine (predictability) will not be followed, strategies like object/symbol calendars can help communicate the changes in routine to the child. Parents not only need strategies for discipline, they also must feel comfortable administering discipline. Discipline is not physical; it is strategies to help the child learn appropriate behavior. Discipline is part of communication, and it is also part of routine when it is a clear consequence to certain behaviors. There is greater security for the child when they understand that behaviors have clear and consistent consequences. Not all behavior is misbehavior,

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but that does not mean there should not be consequences. If the child appears to enjoy picking up a toy, examining it, and then throwing it before going on to the next toy, having CHARGE does not excuse the child from having to pick the toys back up and put them away when finished. Hartshorne and Schafer (2018) provide more detail and examples. The importance of support networks has been addressed. It is hard to raise a child with CHARGE alone. There are too many problems and issues that need attention and strategies. Successful parenting includes recognizing when support is needed and seeking it out. Acceptance is one aspect of parents’ struggle to accept who their child is while still fighting for their best future. Advocacy sometimes requires being the “parent from hell” who insists that providers and services can be better and is not afraid to work for change.

CONCLUSION Parents often experience moments when they question their ability to go on. As one parent emailed, “Tonight I am so very tired of being the person figuring out what’s going on. It’s been awhile since I’ve felt so isolated, scared, on and on. Right now, it’s as though nothing is enough to really help. I’m damned tired of this. I would like some help, too. I need it now. My daughter needs it now.” Professionals should be prepared to offer support to parents in their struggles to provide appropriate parenting for their children. Sometimes that means being someone a parent can vent to. Helping identify respite programs so the parent can get a break could be useful. Professionals do not have all the answers, but they can model and participate in a problem-solving process to help the parent regain their sense of courage in the face of raising a child with CHARGE.

Tips for Supporting Parents n Raising a child with CHARGE is emotionally taxing. Do not be

afraid to provide support. n The “parent from hell” may just need to have someone

listen to them. n Recognize the legitimate parent need for information and

assist in providing it. n Identify the disability networks and help parents to access

them and consider joining yourself.

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n Parents struggle to coordinate the care for their child—

assist with this coordination. n Parents must make serious and challenging decisions

about their child’s care. Assist with this process and help make the outcome positive. n CHARGE syndrome is very medically involved. Help par-

ents understand and learn the medical terms and language so that they can better support their child.

REFERENCES Bailey, D. B., Blasco, P. M., & Simeonsson, R. J. (1992). Needs expressed by mothers and fathers of young children with disabilities. American Journal on Mental Retardation, 97(1), 1–10. CHARGE Syndrome Foundation New Parent Packet (2016). Retrieved from https://www .chargesyndrome.org/for-families/new-diagnosis/ Dunst, C. J., Trivette, C. M., & Cross, A. H. (1986). Mediating influences of social support: Personal, family, and child outcomes. American Journal of Mental Deficiency, 90(4), 403–417. Hartshorne, T. S. (2000). The relationship between parents and teachers of young children with disabilities: Outcomes for children and families. Renwick college monograph No. 3. North Rocks, New South Wales: North Rocks Press. Hartshorne, T. S. (2002). Mistaking courage for denial: Family resilience after the birth of a child with severe disabilities. Journal of Individual Psychology, 58, 263–278. Hartshorne, T. S., & Schafer, A. (2018). Parenting children with severe disability. Journal of Individual Psychology, 74, 421–436. Moss, J., Oliver, C., Arron, K., Burbidge, C., & Berg, K. (2009). The prevalence and phenomenology of repetitive behavior in genetic syndromes. Journal of Autism and Developmental Disorders, 39(4), 572–588. Pedersen, A. L., Crnic, K. A., Baker, B. L., & Blacher, J. (2015). Reconceptualizing family adaptation to developmental delay: AJMR. American Journal on Intellectual and Developmental Disabilities, 120(4), 346–370, 372, 374.

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CHAPTER 32

Educational Issues LILLIAN J. SLAVIN

INTRODUCTION There is limited published literature on educational experiences of students with CHARGE syndrome (CS) beyond professional recommendations for educational accommodations and anecdotal reports. However, there are some preliminary findings describing eligibility determinations, educational settings, and accommodations. In the United States, students are eligible to receive special education services under the Individuals with Disabilities Education Act (IDEA, 2004) when they meet one of the eligibility criteria. The range of eligibility criteria for children with CS reported by various studies is shown in Table 32–1. Educational settings have been reported to range from self-contained classrooms to general education classrooms (Raqbi et al., 2003). Similarly, in the United Kingdom, Deuce (2017) reported that, of a sample of 52 individuals with CS, 40% attended a school for individuals with severe learning difficulties (comparable to severe cognitive impairment in the United States), 31% attended mainstream school, 23% attended specialist school for the deaf, 4% attended specialist school for speech and language impairment, and 2% attended specialist school for physical disabilities. Common educational accommodations received by one sample of students with CS (Struna et al., 2017) were visual schedules or aides (70%), preferred seating (67%), assistive technology (54%), and FM system or amplification device (48%). It is evident, even given the limited literature, that individuals with 465

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466     CHARGE SYNDROME Table 32–1.  Eligibility Designation in Individualized Education Program Eligibility Designation in Individualized Educational Program

Hartshorne & Cypher (2004)

Struna et al. (2017)

Deafblindness

16%

35%

Deafness/hearing impairment

43%

12%

21%

38%

Autism

Developmental delay Emotional disturbance Intellectual disability Multiple disabilities Orthopedic impairment Other health impairment

13%

Specific learning disability Speech or language impairment Traumatic brain injury Visual impairment

17%

CHARGE receive a wide range of educational services under a variety of eligibilities in many different settings.

EDUCATIONAL ISSUES: THE EDUCATIONAL CHECKLIST FOR INDIVIDUALS WITH CHARGE SYNDROME Educating students with CHARGE can be challenging, given the medical complexities and multiple sensory impairments common in this population. Slavin and Hartshorne (2019) utilized an iterative process with the collaboration of an international panel of CS experts, parents, educational professionals, and U.S. Deafblind Project employees to ascertain the most useful categories to consider when creating an educational plan for children with CS. The process resulted in five categories of educational characteristics and concerns: medical, sensory, communication, developmental, and behavioral. Not every individual with CS will experience issues in every area; however, these issues are largely universal in this population. School personnel must understand and address these areas to adequately educate individuals with

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CS. See Slavin and Hartshorne (2019) for the Educational Checklist, which provides in-depth information on educationally relevant characteristics and concerns common to students with CHARGE, resulting educational needs, team members and consulting professionals, and strategies and accommodations to address the educational needs. Medical Individuals with CS experience a host of complex, life-threatening medical conditions, which often require extensive medical and surgical management within the first several years of life (see Chapters 8 through 17 for description and management of medical characteristics). The provision of early intervention services is often delayed, as medical management always takes priority over education (Thelin & Fussner, 2005). While services may be delayed, early intervention services should begin as soon as possible (Blake, Russell-Eggitt, Morgan, Ratcliffe, & Wyse, 1990). Early interventionists and school personnel must understand the medical characteristics of these individuals, including those that have been previously addressed—such as heart defects—and especially those that are ongoing. Breathing and feeding issues are common ongoing medical conditions, which are often managed with tracheostomies and feeding tubes (i.e., gastronomy or jejunostomy tube), respectively (Blake & Hudson, 2017; Rutter, Prager, & Propst, 2011). Ongoing medical concerns may require attention from educational professionals during the school day, including maintenance activities (e.g., suctioning the tracheostomy, cleaning feeding tubes), providing medications, facilitating feedings, and providing therapies (e.g., speech and language therapy). Nursing services may be necessary to aid with medical management at home and school (Cobert, 2019). Trider, Arra-Robar, van Ravenswaaij-Arts, and Blake (2017) created a CHARGE health checklist that provides a comprehensive overview of health supervision across the life span. While this checklist is meant to aid physicians in the provision of their services, school personnel may find this resource beneficial in gaining an understanding of the medical involvement of CS and their role in addressing medical needs at school. Sensory Multiple sensory systems can be impacted to some degree in individuals with CS: visual, auditory, tactile, olfactory, vestibular, and proprioceptive (see Chapters 2 through 7). The impact of the loss or diminishment of each individual sense is educationally relevant and cannot be overlooked; however, the combination of vision loss, hearing loss, and vestibular impairment likely has the most profound educational impact. Approximately 80% to 90% of individuals

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with CHARGE have colobomas, which may result in some degree of vision loss, and approximately 80% to 100% have ear abnormalities, which result in some degree of hearing loss and balance impairment (Trider et al., 2017). It is crucial to understand the multiplicative effect of the sensory losses, as the loss of one sense intensifies the significance of the loss of another. While children with one impacted sensory system (e.g., hearing loss) can rely on their other sensory systems to supplement some of the information they miss from the environment, children with multiple sensory loss (e.g., those who are deafblind) have more difficulty doing so because they receive reduced information from other sensory systems as well. Thus, the impact of the loss of one sensory system not only impacts that individual sense but also the child’s ability to compensate for the loss of other sensory systems. In addition to understanding the multiplicative effect of sensory loss, school personnel must have an understanding of the current functioning of the child’s senses at all times. Regular functional assessments of hearing and vision are recommended, as these can change throughout life (Choo, Tawfik, Martin, & Raphael, 2017; Hyvӓrinen, 2011). Vision assessments should include information regarding visual field, visual acuity, and contrast sensitivity (see Chapter 2). The impairment to the vestibular sense may be the most challenging sensory loss to address in CS. The vestibular impairment is not as easy to “see” or assess, so those working with children with CS might not notice how much energy is expended on staying steady, balanced, and focused. To compensate, the student will likely need to assume “unusual” positions (e.g., side lying, lying upside-down) or positions that make them appear to be inattentive (e.g., head resting on hand or desk), especially when they are trying to concentrate (Figure 32–1). As much as possible, school personnel should allow the student to sit and move in these “odd” ways, as they are methods the child has discovered to stabilize his or her vestibular sense and allow himself or herself to maximize his or her focus (see Chapter 7). School personnel can address the multiple sensory impairments found in students with CS in several ways. When developing curricula and designing lessons, school personnel must understand the extent of the student’s combined sensory loss and how the student uses his or her residual senses. When individuals receive reduced information from their environment, school personnel should provide information through multiple sensory channels, especially those the individual prefers. Using and providing multiple sensory channels for both receptive and expressive communication (i.e., total communication) are universally recommended. It should be noted that some children may prefer different channels for receptive compared to expressive communication. School personnel need to be familiar with assistive devices that the child already utilizes to improve or stabilize their senses. These may include glasses, hearing aids, cochlear implants, amplification systems, adaptive seat­ ing, and others. School personnel should encourage the use of assistive devices at school and should work with the parents to ensure consistency of device availability and use across school and home. These devices should be

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Figure 32–1. Children may need to prop their head to concentrate on schoolwork.

available in every setting at school. Some young adults with CHARGE have reported that their FM systems were only set up in some of their classes at school, so they missed out on material in other classes. School personnel must provide consistent access to information at school. School personnel can also provide additional environmental accommodations to help children maximize their residual senses. These may include large print, braille, reducing visual and auditory clutter, preferential seating, alternative seating opportunities (e.g., a chair with arms and footrest, lying upside down), and many others. Finally, school professionals should provide relevant therapies to address sensory loss. This may include speech and language, occupational, physical, and orientation and mobility therapies, in addition to consultation with vision, hearing, and deafblind specialists. Smith, Smith, and Blake (2010) provide an excellent overview of methods school personnel can utilize to address sensory needs at school.

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Communication Children and adolescents with CS often exhibit receptive and expressive communication delays due to physical anomalies (e.g., orofacial clefting, choanal atresia), sensory impairments, and time spent in the hospital in early development (Thelin & Fussner, 2005). Initially, many children with CS begin communicating using gestures (Peltokorpi & Huttunen, 2008; see Chapters 24 through 26). As they age, there is more observed variability in methods of communication, including gestures, pictorial, sign language, and spoken language (Thelin & Fussner, 2005). While children and adolescents may develop more formal methods of communication, it is crucial that school personnel understand that behavior is also communication (Smith et al., 2010). School personnel should always work to expand upon the student’s communicative abilities using a total communication system. This will involve exposing the student to as many communicative methodologies as possible, including oral language, sign language, gestures, pictures, touch and object cues, calendar systems, and any other approach that aids the student’s communicative development and expression. See Chapters 24 through 26 for elaboration on communication development and intervention. Developmental All developmental milestones (social/emotional, communication, cognitive, and motor) are typically globally delayed in CS, due to the combination of sensory impairments, time spent in the hospital, and physical anomalies (Hefner & Fassi, 2017). It is imperative that these delays be viewed as delays and not assumed to be evidence of intellectual disability. Individuals with CS exhibit a wide range of intellectual outcomes (e.g., Salem-Hartshorne & Jacob, 2005), with some graduating from college and obtaining graduate degrees and others continuing to need substantial supports with daily activities. With appropriate medical interventions, therapies, assistive devices, and environmental accommodations, great progress can be made. Developmental status of each child should be considered a starting point, and school professionals should provide interventions and therapies intended to build on what the child is able to do rather than focus on the deficits. Behavioral Although every child is different, there is a pattern of behavioral characteristics (behavioral phenotype) common to many individuals with CHARGE, first described in the first edition of this volume (Hartshorne, 2011) and further detailed in Chapter 27. Across home and school, children and adolescents with CS often engage in challenging behaviors (e.g., self-injurious behavior,

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aggression) that can be extremely difficult to understand and address. In dealing with challenging behavior of all students—but especially those with limited expressive communicative abilities—school professionals must first recognize that behavior is a form of communication and then attempt to understand what the child is communicating, be it pain, frustration, or simply a need to regroup. Hartshorne, Stratton, Brown, Madhavan-Brown, and Schmittel (2017) suggested the following possible root causes of problematic behavior in children with CS: pain, anxiety, and sensory issues. The behavioral phenotype and hypothesized root causes of problem behaviors in CS provide some context to school professionals when trying to understand behavior. School personnel should not attempt to modify the behavior of any child without first understanding what the behavior is communicating and providing the child with an alternate way to communicate the same message. If necessary, educational professionals should consider conducting a functional behavior assessment (FBA) and implementing a behavior intervention plan (BIP) to address challenging behaviors based on the identified function of behavior.

EDUCATIONAL PRIORITIES Educational priorities should be determined according to age, skills level and goals of the student, and goals of the parents. Priorities should include accessing early intervention services, establishing a communication system, promoting mobility, promoting inclusion, facilitating independence, and transition planning; however, these will likely vary across individuals and change over time. Early Intervention Services Given the focus on medical management in early life, early intervention ser­­ vices are often postponed until the child is medically stable. While medical management will always take priority over the provision of educational services, it is important for the family to be referred to and obtain early intervention services as soon as possible. Many programs start at birth and can provide information to families even if the infant is not ready to receive direct services. Children with CHARGE are often eligible for a variety of early intervention services, including nursing; occupational, physical, speech and language, and orientation and mobility therapies; vision and hearing services; and deafblind services. Early intervention services can address a variety of difficulties, including gross and fine motor delays, speech delays, feeding difficulties, sensory loss, and medical management. The state deafblind projects (federally funded technical assistance centers in the United States) are also

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472     CHARGE SYNDROME

key resources to connect with early in life, as they can help families access services and provide trainings to service providers (https://www.nationaldb .org/state-deaf-blind-projects/ ). Communication Communication in CHARGE is described in detail in Chapters 24 through 26. From an educational standpoint, communication should be prioritized immediately and should be consistently prioritized throughout life. As soon as possible, the child should be given a way to effectively communicate with others, using a total communication approach. This may include spoken language, sign language, pictures, tactile, objects, technologies, and any other format that promotes communication. Parents and professionals should attempt to achieve consistency in communication techniques across home and school. Mobility Motor milestones are often delayed in children with CHARGE due to combinations of vision and hearing loss, vestibular anomalies, low muscle tone, and medical issues. Mobility skills are important for navigating the environment and gaining independence. Mobility can be targeted with services (e.g., physical therapy, occupational therapy, orientation and mobility therapy), environmental accommodations (e.g., open room layout, visual cues), and assistive devices (e.g., walker, gait trainer, cane). See Chapter 20 for more information on accommodations and adaptive physical education. Inclusion Inclusion of students with CHARGE with their peers should be considered at every year of education—and beyond. Inclusion provides students with the opportunity to interact with and learn from their peers and make friends (see Chapter 19 for more information on social-emotional development). School professionals need to be purposeful about promoting inclusion as an option. In addition, school professionals should include representation of people with disabilities in school decorations, assemblies, commencement, and curricula and present stories about people with disabilities during assemblies or story time at school (Figure 32–2). There are at least two children’s books about CHARGE: Hiya Moriah and Why I Am Me: All About CHARGE Syndrome. Inclusion in all school activities can often be enhanced by implementing a Circle of Friends (see Chapter 19). A Circle of Friends is a strategy that enlists the individual’s peers to learn more about and support the individual.

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32. Educational Issues     473

Figure 32–2.  Included students may participate in high school commencement

Independence Individuals with CHARGE should be given ample opportunities to develop skills of independence in a variety of domains (e.g., recreation/leisure, home living, community participation, postsecondary education, employment) throughout their lives. Having the ability to make choices is a critical component. Facilitating independence should begin early in life and should continue throughout. While it may be easier and quicker for parents or professionals to complete activities of daily living for the child or adolescent (e.g., feeding, dressing), the child or adolescent can learn more if he or she is involved in these activities in a meaningful way. Independence should be purposefully fostered and practiced across all environments.

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474     CHARGE SYNDROME

Transition Transition planning from school to postsecondary opportunities should begin early in the student’s education. While states vary on the age in which transition planning is legally required, most fall between 14 and 16 years old. However, transition planning should be considered throughout the student’s educational career. From a young age, educational goals should be made with transition in mind. Goals should focus on functional skills that will help the student one day achieve his or her life goals. Person-Centered Planning (http://personcenteredplanning.org/ ) provides a framework to focus on strengths while creating a detailed plan to achieve the goals of the individual.

ADDRESSING EDUCATIONAL ISSUES An interdisciplinary team approach—including and emphasizing the parents and student—is recommended to collaboratively address the multifaceted educational issues with which individuals with CHARGE often present. A large team of professionals will be involved in addressing student needs (see Ta­ble 32–2). Everyone on the team must work together to address the big picture instead of focusing only on their isolated specialties. A PersonCentered Plan can assist in organizing goals across professionals to reflect the individual’s personal goals.

Table 32–2.  Educational Team Educational Team Member

Expertise

Job Role

One-on-one aide

One-on-one support

Provide individualized support to one student

Behavior consultant

Behavior management and change

Conduct functional behavior assessments, formulate behavior intervention plans, consult with school team

Counselor

Counseling, therapy, social skills

Provide individual and/ or group counseling interventions

Deafblind consultant

Educational implication of deafblindness and school accommodations and services

Provide technical assistance to other specialists to address deafblindness

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Table 32–2.  continued  Educational Team Member

Expertise

Job Role

Deafblind intervener

Students with deafblindness

Provide individualized access to environmental information to allow for enhanced independence, communication, and academic achievement

General education teacher

General education curriculum

Implement general curriculum and provide accommodations and modifications outlined in the Individualized Education Program (IEP)

Interpreter

Sign language

Interpret environmental information into sign language

Nurse

Health care

Provide health care, promote health education, coordinate referrals, serve as liaison between home and school

Occupational therapist

Fine motor, oral-motor, sensory, assistive technology

Support the student’s ability to participate in school activities, both academic and nonacademic

Orientation and mobility therapist

Orientation (using sensory information to establish and maintain position in environment) and mobility (process of moving safely) skills in students with visual impairments

Assess and teach orientation and mobility skills (e.g., moving with a guide, indoor and outdoor cane skills, using public transportation)

Parent

Their child

Advocate for their child, help develop IEP

Physical therapist

Gross motor, sensory, posture, endurance, mobility, exercise

Assess functional motor performance and develop and implement interventions continues

475

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Table 32–2.  continued  Educational Team Member

Expertise

Job Role

School psychologist

Assessment, behavior, special education, mental health, instruction, academics

Psychoeducational assessment and intervention

Social worker

Counseling, social skills, community connections and resources, mental health

Assess and intervene with mental health, behavioral, and academic concerns; provide individual and group counseling; consult with school team

Special education teacher

Special education curriculum

Implement special education curriculum and provide accommodations and modifications outlined in the IEP

Speech-language pathologist

Speech, language, social communication, feeding

Assess and treat speech, language, communication, and feeding delays and disorders

Teacher consultant for hearing impaired

Assessment and interventions of hearing loss, hearing loss etiology, assistive technology, communication

Assess and intervene on educational impact of hearing loss, interpret information from audiologist, provide direct and consultative services to address impact of hearing loss

Teacher consultant for visually impaired

Assessment and interventions of vision loss, vision loss etiology, assistive technology, braille

Assess and intervene on educational impact of vision loss, interpret information from ophthalmologist, provide direct and consultative services to address impact of vision loss

476

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FUTURE DIRECTIONS While there are several professional recommendations regarding strategies for educating students with CHARGE, there is limited experimentally tested support for the recommendations. As the field continues to progress, professionals should seek to empirically test the recommendations commonly suggested by leading experts in CHARGE.

Resources n The CHARGE Syndrome Foundation website (https://

www.chargesyndrome.org/) has links to multiple resources for educators. n The Educational Checklist (Slavin & Hartshorne 2019;

see Appendix) reviews educationally relevant CS characteristics, resulting educational needs, school team members and consulting professionals, with some examples of strategies to address those needs. There is also a glossary and list of resources. n The Educator Professional Packet (https://www.charge

syndrome.org/for-professionals/education-professional -packet/) includes a number of useful documents that can be downloaded individually or as a whole. n In addition, there are several articles that provide educa-

tional recommendations (Brown, 2003, 2004, 2011; Griffin, Davis, & Williams, 2004; Lewis & Lowther, 2001; Smith et al., 2010).

REFERENCES Blake, K. D., & Hudson, A. S. (2017). Gastrointestinal and feeding difficulties in CHARGE syndrome: A review from head-to-toe. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(4), 496–506. Blake, K. D., Russell-Eggitt, I. M., Morgan, D. W., Ratcliffe, J. M., & Wyse, R. K. (1990). Who’s in CHARGE? Multidisciplinary management of patients with CHARGE association. Archives of Disease in Childhood, 65(2), 217–223.

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478     CHARGE SYNDROME Brown, D. (2003). Educational and behavioral implications of missing balance sense in CHARGE syndrome. California Deafblind Services, reSources, 10(15), 1–4. Brown, D. (2004). “Knowing the child”—Personal passports. California Deafblind Services, reSources, 11(4). Brown, D. (2011). Deaf-blindness, self-regulation and availability for learning: Some thoughts on educating children with CHARGE syndrome. California Deafblind Services, reSources, 16(3), 1–7. Choo, D. I., Tawfik, K. O., Martin, D. M., & Raphael, Y. (2017). Inner ear manifestations in CHARGE: Abnormalities, treatments, animal models, and progress toward treatments in auditory and vestibular structures. American Journal of Medical Genetics Part C, 175(4), 439–449. Cobert, L. T. (2019). Nursing care of infants and children with congenital heart disease and associated genetic conditions. Pediatric Nursing, 45(2), 75–85. Dammeyer, J. (2012). Development and characteristics of children with Usher syndrome and CHARGE syndrome. International Journal of Pediatric Otorhinolaryngology, 76(9), 1292–1296. Deuce, G. (2017). The education of learners with CHARGE Syndrome. British Journal of Special Education, 44(4), 376–393. Griffin, H. C., Davis, M. L., & Williams, S. C. (2004). CHARGE syndrome: Educational and technological interventions. RE: view, 35(4), 149. Hartshorne, T. S. (2011). Behavioral phenotype. In T. S. Hartshorne, M. A. Hefner, S. L. H. Davenport, & J. W. Thelin (Eds.), CHARGE syndrome (pp. 317–326). San Diego, CA: Plural Publishing. Hartshorne, T. S., & Cypher, A. D. (2004). Challenging behavior in CHARGE syndrome. Mental Health Aspects of Developmental Disabilities, 7(2), 41–52. Hartshorne, T. S., Stratton, K. K., Brown, D., Madhavan-Brown, S., & Schmittel, M. C. (2017). Behavior in CHARGE syndrome. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(4), 431–438. Hefner, M. A., & Fassi, E. (2017). Genetic counseling in CHARGE syndrome: Diagnostic evaluation through follow up. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(4), 407–416. Hyvӓrinen, L. (2011). The eye and vision. In T. S. Hartshorne, M. A. Hefner, S. L. H. Davenport, & J. W. Thelin (Eds.), CHARGE syndrome (pp. 13–24). San Diego, CA: Plural Publishing. Individuals with Disabilities Education Act, 34 CFR § 300.8 (2004). Lewis, C., & Lowther, J. (2001). CHARGE association: Symptoms, behaviour and intervention. Educational Psychology in Practice, 17(1), 69–77. Peltokorpi, S., & Huttunen, K. (2008). Communication in the early stage of language development in children with CHARGE syndrome. British Journal of Visual Impairment, 26(1), 24–49. Raqbi, F., Le Bihan, C., Morisseau-Durand, M. P., Dureau, P., Lyonnet, S., & Abadie, V. (2003). Early prognostic factors for intellectual outcome in CHARGE syndrome. Developmental Medicine and Child Neurology, 45(7), 483–488. Rutter, M. J., Prager, J. D., & Propst, E. J. (2011). Airway. In T. S. Hartshorne, M. A. Hef­ ner, S. L. H. Davenport, & J. W. Thelin (Eds.), CHARGE syndrome (pp. 101–112). San Diego, CA: Plural Publishing. Salem-Hartshorne, N., & Jacob, S. (2005). Adaptive behavior in children with CHARGE syndrome. American Journal of Medical Genetics Part A, 133(3), 262–267.

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32. Educational Issues     479 Slavin, L. J., & Hartshorne, T. S. (2019). The development of an educational checklist for individuals with CHARGE syndrome. International Journal of Developmental Disabilities, 1–7. doi:10.1080/20473869.2019.1642639 Smith, K. G., Smith, I. M., & Blake, K. (2010). CHARGE syndrome: An educators’ pri­mer. Education and Treatment of Children, 33(2), 289–314. Struna, E., Ripple, H., Cosgriff, A., Driskell, W., Trice, S., Kilbert, T., & Stratton K. (2017, July). The CHARGE IEP: What accommodations and rulings are common? Poster presented at the International CHARGE Syndrome Conference, Orlando, FL. Thelin, J. W., & Fussner, J. C. (2005). Factors related to the development of communication in CHARGE syndrome. American Journal of Medical Genetics Part A, 133(3), 282–290. Trider, C. L., Arra-Robar, A., van Ravenswaaij-Arts, C., & Blake, K. (2017). Developing a CHARGE Syndrome checklist: Health supervision across the lifespan (from head to toe). American Journal of Medical Genetics Part A, 173(3), 684–691.

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APPENDIX: Checklists CHARGE'SYNDROME'CHECKLIST:'HEALTH'SUPERVISION'ACROSS'THE'LIFESPAN' ''''''''''''''''''''''''''''''''''''''''(FROM'HEAD'TO'TOE)' -

*Shaded-boxes-indicate-key-assessment-points'

INFANCY' (0:2'years)' ! ! !

! ! ! !

ADULTHOOD' (18+'years)' ! ! ! !

CNS!malformations/hypoplasia!olfactory!bulb/temporal!bone!(semiEcircular! canal)!malformations!–!requires!MRI/CT! Seizures!–!more!common!at!older!ages!–!consider!EEG! Cranial!nerve!problems!–!monitor!for!absent!sense!of!smell,!facial!nerve! palsy,!sensorineural!hearing!loss,!vertigo,!swallowing!problems!

! !

! !

! !

! !

Coloboma,!risk!of!retinal!detachment!E!Ophthalmology!consult!!(dilated!eye! exam!in!infancy,!vision!assessments)!! Corneal!exposure!–!lubricating!eye!drops! Photophobia!–!tinted!glasses,!sunhat! Choanal!atresia/cleft!palate/tracheoesophageal!fistula!E!ENT/Plastics!consult! Audiometry!and!tympanometry,!monitor!for!recurrent!ear!infections! Adaptive!services!for!individuals!with!deafness/blindness! Cochlear!implant!assessment!if!applicable! Obstructive!sleep!apnea!–!monitor!for!tonsil/adenoid!hypertrophy! Excessive!secretions!–!consider!Botox,!medication! Dental!issues!–!consider!cleaning!under!anaesthetic!

!

!

!

!

! ! ! ! ! ! ! ! !

! ! ! ! ! ! ! ! ! !

! ! ! ! ! ! ! ! ! !

! ! ! ! ! ! ! ! ! !

!

GENETICS'

ADOLESCENCE' (12:17'years)'

NEUROLOGY'

CHILDHOOD' (3:11'years)' ! ! ! !

Clinical!diagnosis!(Blake!et!al.!or!Verloes!or!Hale!et!al.!criteria)! Genetic!testing!–!Genetics!consult!(CHD7!analysis,!array!CGH)! Genetic!counselling!

EYES,'EARS,'NOSE'AND'THROAT'

!

-

! !

! !

! !

! !

Gastroesophageal!reflux!–!Gastroenterology!consult!–!consider!motility! agents!with!proton!pump!inhibitor! Poor!suck/chew/swallow!E!feeding!team!assessment/intervention! Aspiration!risk,!tracheoesophageal!fistula!–!swallowing!studies! May!need!supplemental!feeds!–!frequently!requires!gastrostomy!tube!or! gastrojejunostomy!tube! Constipation!–!consider!Senna!glycoside!with!polyethylene!glycol! Renal!anomalies!–!abdominal!u/s!+/E!VCUG,!blood!pressure!monitoring!

!

!

!

!

! !

! ! !

! ! !

! ! !

! ! ! ! ! ! ! ! ! ! ! ! !! ! ! ! ! ! ! ! !

! ! ! ! ! ! ! ! ! ! ! ! !! ! ! ! ! ! ! ! !

! ! ! ! ! ! ! ! ! ! ! ! !! ! ! ! ! ! ! ! !

!

'

RESPIROLOGY'

CARDIOLOGY'

Cardiac!malformations!common!–!major/minor!defects,!vascular!ring!or! arrhythmias!possible!(echocardiogram,!chest!xEray,!ECG)!E!Cardiology!consult! Sinusitis,!pneumonia,!asthma!E!monitor! Anesthesia!risk!(difficult!intubations/postEop!airway!obstruction/aspiration)! –!extensive!preEoperative!assessment,!combine!surgical!procedures!

GASTROENTEROLOGY' GENITOURINARY'

'

'

!

!

Hypogonadotropic!hypogonadism!–!LH,!FSH!by!3!months! Genital!hypoplasia!(if!undescended!testes!E!consider!orchidoplexy)! Delayed!puberty!–!Endocrinology!consult!E!gonadotropin!levels,!HRT! Osteoporosis!–!DEXA!scan! Poor!growth!–!Endocrinology!consult!–!GH!stimulation!test,!GH!therapy! Obesity!E!monitor! Fertility!and!contraception!E!discuss! Note!presence!of!thymus!at!open!heart!surgery! Routine!immunizations/antibody!titres!to!immunizations!in!adolescence! Recurrent!infections!–!Immunology!consult! !

SYSTEM'

IMMUNE'

'

ENDOCRINOLOGY'

'

! ! ! ! ! ! ! ! ! ! ! ! !!

Scoliosis/kyphosisE!monitor! Mobility!(affected!by!ataxia,!hypotonia)!E!evaluate!

!

Assess!gross!and!fine!motor!skills!–!Occupational!Therapy,!Physiotherapy! Communication,!language,!writing!abilities!–!Speech!Language!Therapy! Consider!deafEblind!consultant! Prepare!for!transitions!to!school,!situations,!places,!systems! Psychoeducational!assessment,!Individualized!Education!Plan! Sleep!disturbances!–!consider!melatonin! Behavior!management!–!selfEregulation,!impulse!control,!anxiety,! obsessions,!compulsions,!anger!! Toileting!skills!E!support! Life!skills/adaptive!behaviour/social!skills/social!play! Address!sexuality! Family!stress!–!offer!supports!and!resources! Medical!selfEmanagement!–!work!on!managing!medications,!understanding! conditions,!seeing!healthcare!provider!independently!

! ! ! ! ! ! ! ! ! ! !

!

! ! ! ! !

! ! ! ! !

! ! ! ! !

!

!

!

'

PSYCHOLOGY' DEVELOPMENTAL'

'

MSK'

!

! *Abbreviations-listed-on-page-2-

----

-Trider-C,-Arra6Robar-A,-van-Ravenswaaij6Arts-C,-Blake-K-

481

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482     CHARGE SYNDROME

CHARGE'SYNDROME'CHECKLIST:'HEALTH'SUPERVISION'ACROSS'THE'LIFESPAN' ''''''''''''''''''''''''''''''''''''''''(FROM'HEAD'TO'TOE)' ' Abbreviations'Used'in'Checklist' CGH!E!comparative!genomic! hybridization! CNS!E!central!nervous!system! CT!E!computed!tomography! DEXA!scan!E!dual!energy!XEray! absorptiometry! EEG!E!electroencephalogram! ENT!E!ear,!nose!and!throat! !

FSH!E!follicle!stimulating!hormone! GH!E!growth!hormone! HRT!E!hormone!replacement!therapy! LH!E!luteinizing!hormone! MRI!E!magnetic!resonance!imaging! MSK!E!musculoskeletal! U/S!!E!ultrasound! VCUG!E!voiding!cystourethrogram

Resources'

! The!CHARGE!Syndrome!Foundation!(http://chargesyndrome.org/aboutE charge.asp)!

! The!CHARGE!Informational!Pack!for!Practitioners!(SENSE!UK)!

(https://www.sense.org.uk/content/chargeEinformationEpackEpractitioners)!

! Book!E!CHARGE!Syndrome!(Genetics!and!Communication!Disorders),!1st!ed.! Hartshorne!TS,!Hefner!M,!Davenport!S,!Thelin!J.!2011!

! OMIM!Entry!#214800!CHARGE!Syndrome! (http://www.omim.org/entry/214800)!

! CHARGE!Syndrome!International!Conference! ! CHARGE!Syndrome!Listserv! ! CHARGE!Syndrome!Facebook!Group! ! Perkins!School!for!the!Blind!eElearning! (http://www.perkinselearning.org/videos)!

! Deafblind!International!(http://www.deafblindinternational.org/index.htm)! ! Open!hands,!open!access:!deafEblind!intervener!learning!modules! (http://moodle.nationaldb.org)!

!

Key'General'References' 1. Blake!K,!Prasad!C.!2006.!CHARGE!syndrome.!Orphanet!J!Rare!Dis!1:!34! 2. Brown!D.!2005.!CHARGE!syndrome!“behaviors”:!challenges!or!adaptations?!Am!J! Med!Genet!Part!A!133A:!268E272! 3. Hsu!P,!Ma!A,!Wilson!M,!Williams!G,!Curotta!J,!Munns!CF,!Mehr!S.!2014.!CHARGE! syndrome:!a!review.!J!Pediatr!Child!Health!50:!504E511! Page-2-

!

------

Trider-C,-Arra6Robar-A,-van-Ravenswaaij6Arts-C,-Blake-K-

From Trider, C. L., Arra-Robar, A., van Ravenswaaij-Arts, C., & Blake, K. (2017). Developing a CHARGE syndrome checklist: Health supervision across the life­­span (from head to toe). American Journal of Medical Genetics. Part A, 173(3), 684–691. Used by permission.

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APPENDIX: CHECKLISTS     483 Feeding Assessment Scale for CHARGE Syndrome Authors: Alexandra Hudson, Kasee Stratton, Jill Hatchette, Kim Blake Date: __________________________ Name of Individual: _______________________________________ Age:________________________ Gender (Circle one): Male Completed By (Circle one): Mother Father Feeding Therapist

Female Nurse/Physician

Not Disclosed Other:_________________

What percentage of your child/adult’s daily fluid/nutrition intake is by G/J tube feeding? (Circle one percentage): 0% 25% 50% 75% Circle one number on the scale:

95%

Never

A Little

Sometimes

A lot

Always

1

He/she will refuse food when eating orally.

0

1

2

3

4

2

He/she takes longer than 45 minutes to eat orally.

0

1

2

3

4

3

He/she takes less than 15 minutes to eat orally.

0

1

2

3

4

4

He/she needs close supervision when eating orally.

0

1

2

3

4

5

He/she needs someone in the room when eating orally.

0

1

2

3

4

6

He/she has problems cutting food when eating orally.

0

1

2

3

4

7

He/she has problems feeding him/herself when eating orally.

0

1

2

3

4

8

He/she chokes or coughs when eating orally.

0

1

2

3

4

9

He/she has trouble chewing food.

0

1

2

3

4

10

He/she has trouble swallowing food.

0

1

2

3

4

11

He/she has to be told or reminded to chew.

0

1

2

3

4

12

He/she has to be told or reminded to swallow.

0

1

2

3

4

13

He/she does not like to mix food textures when eating (e.g. mixing puree and solid food).

0

1

2

3

4

14

He/she accidentally loses food out of his/her mouth during eating.

0

1

2

3

4

15

He/she will over-stuff his/her mouth with food during eating.

0

1

2

3

4

Never

A Little

Sometimes

A lot

Always

Circle one number on the scale:

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484     CHARGE SYNDROME 16

He/she has difficulty moving food around with his/her tongue during eating.

0

1

2

3

4

17

He/she has a hard time feeling food or anything touching the inside of his/her mouth.

0

1

2

3

4

18

He/she dislikes oral eating.

0

1

2

3

4

19

He/she lets food sit in his/her cheeks or palate during eating (on purpose or not).

0

1

2

3

4

20

He/she will have food hidden in his/her cheeks or palate after the meal has ended (on purpose or not).

0

1

2

3

4

21

The Parent/Caregiver gets worried about their child/adult’s ability to eat orally.

0

1

2

3

4

22

The Parent/Caregiver has difficulties feeding their child/adult. (e.g. preparing food the right way, getting enough information about helping them eat/drink)

0

1

2

3

4

Does the child/adult have problems with:

No

Yes

23

Cold foods

0

1

24

Room temperature foods

0

1

25

Warm foods

0

1

26

Thin liquids (e.g. water)

0

1

27

Pureed foods (e.g. applesauce)

0

2

28

Mashed lumpy food (e.g. mashed potatoes or mashed vegetables)

0

2

29

Soft chewable foods (e.g. bread, crackers)

0

2

30

Tough chewable foods (e.g. meat)

0

1

31

Hard vegetables and fruit (e.g. raw apples)

0

1

Total Score (sum of all items) Circle one:

Plural_Hartshorne_Appendix.indd 484

/100 total points Mild (0-25 points) Moderate (26-50 points) Severe (51-100 points)

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APPENDIX: CHECKLISTS     485 CHARGE Non-Vocal Pain Assessment (CNVPA) DIRECTIONS: Please complete the following rating after observations of your child for one day when you believe your child is experiencing pain. For each item, circle the number that best describes your child’s behavior during the pain episode. If your child does not engage in a behavior when not in pain OR is not capable of performing an action, score this item as “not at all.”

Not at all

A little

Quite a lot

A great deal

Cries

0

1

2

3

Moans/groans/screams

0

1

2

3

Cheerful

3

2

1

0

Sociable/responsive

3

2

1

0

Not cooperative (cranky, irritable)

0

1

2

3

0

1

2

3

Withdrawn or depressed

0

1

2

3

Hard to console or comfort

0

1

2

3

Difficult to distract

0

1

2

3

Frowns/has furrowed brow/looks worried

0

1

2

3

Squinting eyes/eyes wide open/eyes frowning

0

1

2

3

Mouth turned down

0

1

2

3

Lips puckered up, tight, pouting, or quivering

0

1

2

3

Grimaces/screws up face

0

1

2

3

VOCAL

SOCIAL

Obstinate (e.g. doesn’t respond to directions)

FACIAL

 

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486     CHARGE SYNDROME Not at all

A little

Quite a lot

A great deal

0

1

2

3

Less active or quiet

0

1

2

3

Restless/agitated

0

1

2

3

0

1

2

3

0

1

2

3

Acts out/Misbehaves

0

1

2

3

Disturbed sleep

0

1

2

3

Change in eating habits

0

1

2

3

Resists being moved

0

1

2

3

Increase in OCD-like behaviors

0

1

2

3

Stiffens/spasms/seizures

0

1

2

3

Touching or rubbing parts of the body more than usual

0

1

2

3

Guarding a part of the body

0

1

2

3

0

1

2

3

0

1

2

3

0

1

2

3

Grinds teeth/clenches teeth ACTIVITY/CHALLENGING BEHAVIORS

Self-injurious behaviors (Biting self, banging/hitting head) Aggressive (e.g. hitting others, throwing objects)

BODY AND LIMBS/PHYSIOLOGICAL

Specific body movement to indicate pain (e.g. arms down, curled up, head down) Change in color (e.g., pale, splotchy, flush) Sharp intake of breath/gasping

Stratton & Hartshorne, 2012: The CNVPA was created from parental input based on behaviors observed of children with CHARGE when they are experiencing pain and from the following references (used with permission from the authors of the NCCPC-R and the PPP): Breau, L., McGrath, P.J., Finley, A., & Camfield, C. (2004). Non-communicating children’s pain checklist-revised (NCCPC-R). Halifax, Nova Scotia: Lynn Breau. Hunt, A. (2003). Paediatric Pain Profile. Oxford, UK: RCN Institute.

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APPENDIX: CHECKLISTS     487

A Checklist of Educational Needs for Individuals with CHARGE Syndrome The following checklist is a tool that can be used by school teams and early intervention specialists to help guide educational services for individuals with CHARGE syndrome.

Overview of CHARGE Syndrome CHARGE syndrome is a rare genetic syndrome occurring in about 1:10,000 to 1:15,000 births. CHARGE is a diagnosis made by a medical geneticist based on major (i.e., coloboma, choanal atresia/stenosis, cranial nerve anomalies, and a characteristic CHARGE ear) and minor (i.e., genital hypoplasia, developmental delay, heart malformations, short stature, orofacial clefting, and tracheoesophageal fistula) anomalies and genetic testing (CHD7 gene mutation). Please see the selected reference list at the end for more information. CHARGE syndrome is extremely complex and variable. School teams must understand these five domains in which individuals with CHARGE are commonly affected: 1. Medical: Individuals with CHARGE syndrome are extremely medically complex. They often spend the first several years of their lives in and out of the hospital undergoing numerous lifethreatening surgeries. Educational teams must understand the extent of the medical complexities individuals with CHARGE experience and that medical needs will take priority over educational needs. 2. Sensory: Every sensory system can be affected by CHARGE syndrome: vision, hearing, taste, smell, touch, proprioception, and vestibular. A vast majority of individuals with CHARGE experience ear abnormalities and deafness, coloboma of the eye and vision loss, and vestibular abnormalities, making it difficult for them to access information from their environment. Educational teams need to recognize and address the sensory loss of individuals with CHARGE to maximize the sensory input the individual receives. 3. Communication: Due to multiple sensory impairments and structural anomalies (e.g., cleft lip, choanal atresia), individuals with CHARGE syndrome often have difficulties understanding and communicating with others. As such, they often communicate the only way they can: their behavior. Educational teams will need to learn to recognize behavior as communication and find creative ways to expand the expressive and receptive communication of individuals with CHARGE syndrome. Individuals communicate in a variety of ways (e.g., spoken, sign, gestural, behavioral, pictorial, etc.), so establishing a communication system that works for the individual is a priority. 4. Developmental: Global developmental delays are universal in CHARGE syndrome due to individuals’ medical fragility, multiple sensory impairments, and physical anomalies. However, these delays can be addressed in the school by a variety of educational team members. 5. Behavioral: Due to multiple sensory impairments and subsequent difficulties with communication, individuals with CHARGE syndrome often initially communicate with their behavior. A CHARGE behavioral phenotype has been suggested, which includes the following characteristics: 1) low normal cognitive functioning, 2) socially interested but immature, 3) repetitive behaviors, which increase under stress, 4) high degree of sensation seeking, 4) tendency to lose behavioral control and self-regulation when stressed or sensory overloaded, and 5) difficulty shifting attention. Sources of problem behavior are believed to be pain, sensory issues, and anxiety.

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488     CHARGE SYNDROME

Overview of the Checklist This tool is comprised of the following components: introduction (overview of CHARGE syndrome and checklist), checklist, glossary, and recommended resources. The information provided in this checklist is based on recommendations from experts in CHARGE syndrome. However, because of the complexity of CHARGE syndrome, it is impossible to make it exhaustive. Accommodating students with CHARGE syndrome requires a degree of creativity. As such, this checklist should be utilized by a multidisciplinary team as a starting point for brainstorming possible services for individuals with CHARGE syndrome. Recommendations must be tailored to the specific individual, and monitored for effectiveness. The checklist includes five categories: 1. Characteristics and Concerns: Educationally relevant characteristics and concerns/related difficulties commonly displayed by individuals with CHARGE syndrome. Check the box to the right of each CHARGE characteristic exhibited by the individual. 2. Educational/Support Needs: Educational needs that result from the characteristics and concerns. These are specific considerations school staff should be aware of if the individual exhibits each specific characteristic/concern. 3. Team Members: Professionals who might be directly involved in addressing the educational needs via on-going service delivery. 4. Examples of Strategies and Accommodations: Limited sample of specific accommodations and strategies that may be adopted to address specific needs. The team should discuss the needs of the student and add to or modify the list in order to insure an individualized program. 5. Consulting Professionals: Professionals outside of the school with whom it may be beneficial to consult regarding diagnoses or guidance for treatment plans. These will likely not be involved in day-to-day service delivery.

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Plural_Hartshorne_Appendix.indd 489

Medical

Chronic pain

Breathing difficulties Recognizing pain behaviors; medication management

Scheduling and location of feeding; understanding issues with chewing and swallowing; training in mode of feeding Understanding stamina and posture

Understanding stamina/fatigue and lifting limitations Movement/activity; tracking bowel movements

Heart defects

Gastrointestinal issuesabdominal pain (gas) Gastrointestinal issues- feeding issues

Educational/ Support Needs

Characteristics and Concerns

Nurse; School Psychologist; Behavior Consultant

Nurse; Lunch Staff; Speech-Language Pathologist; Behavior Consultant; Occupational Therapist Nurse

Nurse

Nurse

(Parents, Special and General Educators, & Interveners should consulted in most areas )

Team Members

Provide additional travel time when walking5; medication management Functional behavior assessment; interpretation of pain behavior as communication5; medication management; teach how to communicate pain

Feeding therapy; cut foods into small bites; train staff on feeding5, 12

Ensure availability of restroom5

Provide additional travel time when walking5

(Team should discuss and modify to fit individual needs)

Examples of Strategies and Accommodations

Primary Care Physician; Medical Specialist Primary Care Physician; Medical Specialist

Primary Care Physician; Medical Specialist; Dietician

Primary Care Physician; Medical Specialist Primary Care Physician; Medical Specialist

(the State Deafblind Projects should be consulted in most areas)

Consulting Professionals

Name of Individual with CHARGE Syndrome: _____________________________________________________________________

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Plural_Hartshorne_Appendix.indd 490

Medical

Sensory

Up-to-date list of all medications; administration of medication Understand frequent illnesses and absences, and need for attention to cleanliness in the school Access to visual environment; understanding of functional vision; understanding risk of retinal detachment; equipment management for vision loss; understanding of light sensitivity; understanding of visual field

Medication management

Ocular defects (vision loss)

Immunodeficiency

Educational/ Support Needs

Characteristics and Concerns

Teacher Consultant for the Visually Impaired; Certified Orientation and Mobility Specialist

Nurse

Nurse

(Parents, Special and General Educators, & Interveners should consulted in most areas )

Team Members

10

Functional vision assessment5; learning media assessment, environmental accommodations3, 4, 8, 9, 10, 12 (e.g., large print, braille, angled work surface, consideration of lighting; minimize visual clutter, etc.); glasses5; establishment of communication bubble4,

Access to school material from home/hospital; ensuring a clean school environment

Availability of medication5; training in side effects

(Team should discuss and modify to fit individual needs)

Examples of Strategies and Accommodations

Ophthalmologist; Optometrist; Low Vision Specialist; State Deafblind Projects

Primary Care Physician; Medical Specialist; Psychiatrist Immunologist

(the State Deafblind Projects should be consulted often)

Consulting Professionals

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Access to environment; understanding the complexity of combined vision and hearing loss; knowledge of deafblind-specific intervention

Access to auditory environment; understanding degree and type of hearing loss; equipment management for hearing loss

Auditory issues/ear abnormalities (hearing loss)

Deafblindness

Educational/ Support Needs

Characteristics and Concerns

Teacher of the Deafblind; Intervener

Teacher Consultant for the Hearing Impaired

(Parents, Special and General Educators, & Interveners should consulted in most areas )

Team Members

Simultaneously address the impact of visual and hearing loss3, 10, 12; make information available through multiple sensory systems3; direct instruction9

Functional hearing assessment5; assistive technology4, 12 (e.g., amplification system, hearing aid); medical interventions5, 12 (e.g., implants, BAHAs); minimize auditory distractions3, 10; sign language12

(Team should discuss and modify to fit individual needs)

Examples of Strategies and Accommodations

State Deafblind Projects; Ophthalmologist; Audiologist

Audiologist; Otolaryngologist; State Deafblind Projects

(the State Deafblind Projects should be consulted often)

Consulting Professionals

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Sensory

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Proprioceptive system impairment

Teacher Consultant for the Visually Impaired

Physical Therapist; Occupational Therapist

(Parents, Special and General Educators, & Interveners should consulted in most areas )

Team Members

Opportunities for Physical Therapist; proprioceptive input Occupational (i.e., activities that Therapist support the individual being in touch with his or her body); understanding availability to learn; training in joint compression and firm touch

Balance; independence of mobility; understanding need for unconventional positions (e.g., horizonal, upside down, etc.) Stable visual environment

Vestibular system impairment (balance)

Vestibuloocular reflex)

Educational/ Support Needs

Characteristics and Concerns

Proprioceptive system stimulation1,3, 5, 11; seating accommodations1, 3; provide deep pressure and joint compression1, 10; support for walking1, 11

Vestibular system stimulation4, 5, 10, 11 (e.g., swinging, rocking); provide opportunities for movement10; appropriate physical supports1, 3; seating accommodations1, 3 ; support for walking1, 11 Keep objects stable1, 10

(Team should discuss and modify to fit individual needs)

Examples of Strategies and Accommodations

N/A

Ophthalmologist; Optometrist

Otolaryngologist

(the State Deafblind Projects should be consulted often)

Consulting Professionals

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Sensory

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Sensory

Developmental

Understanding touch preferences (e.g., firm touch) and how the individual utilizes touch to access information Awareness of limited smell and its implications

Touch/tactile defensiveness

Curricular modifications; encourage exploration of and access to environment; recognize the potential of the child; concept development

Managing arousal levels; understanding availability to learn

Sensory processing issues

Olfactory system impairment (smell) Delay in intellectual/ cognitive development

Educational/ Support Needs

Characteristics and Concerns

School Psychologist; Teacher of the Deafblind

Intervener

Occupational Therapist

Occupational Therapist

(Parents, Special and General Educators, & Interveners should consulted in most areas )

Team Members

Provide information about smells in the environment5 (e.g., smoke, food) Modify curriculum through accommodation, adaptation, making parallel or overlapping3, 5, 9, 10; direct instruction of functional skills9

Sensory stimulation4, 5, 10, 11 ; allow the child to choose and refuse sensory experiences12 Allow the child to choose sensory experiences12; use firm touch11

(Team should discuss and modify to fit individual needs)

Examples of Strategies and Accommodations

Primary Care Physician; Medical Specialist; Otolaryngologist Private Licensed Psychologist; State Deafblind Projects

Neuropsychologist; State Deafblind Projects

State Deafblind Projects; Neuropsychologist

(the State Deafblind Projects should be consulted often)

Consulting Professionals

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Seating and any other accommodations; understanding the need for “unusual” postures/positions (e.g., side lying) Opportunity for social interactions; develop a positive social community

Posture

Toileting Issues

Scheduling; awareness of neurological causes; work towards increased independence

Opportunities to gain independence

Adaptive behavior

Social skills/social communication

Educational/ Support Needs

Characteristics and Concerns

School Psychologist; Social Worker; Speech-Language Pathologist; Teacher of the Deafblind; Nurse; School Psychologist; Behavior Consultant

School Psychologist; Teacher of the Deafblind Physical Therapist; Occupational Therapist

(Parents, Special and General Educators, & Interveners should consulted in most areas )

Team Members

Functional behavior assessment5; availability of restroom; diapering accommodations

Circle of friends6; social stories6; teach socialemotional skills curriculum6, 8, 12

Consider postural needs in every educational activity and setting and allow for “unusual” postures3, 10, 12

Teach functional skills as prioritized by the team9

(Team should discuss and modify to fit individual needs)

Examples of Strategies and Accommodations

Primary Care Physician; Medical Specialist; State Deafblind Projects; Urologist

Private Licensed Psychologist; State Deafblind Projects

Private Licensed Psychologist; State Deafblind Projects Orthopedist

(the State Deafblind Projects should be consulted often)

Consulting Professionals

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Developmental

Developmental

Communication

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Understanding of CHARGE developmental milestones for gross motor, fine motor, and independent movement Communicate to child via numerous sensory channels (e.g., spoken language, sign, pictorial cues, objects, touch, cued speech, etc.) Offer multiple opportunities/method s for communicating (e.g., gestures, sign language, augmentative strategies, etc.)

Motor delay/abnormal motor pattern

Receptive communication (e.g., difficulties hearing, difficulties seeing, motor issues) Expressive communication (e.g., vocabulary acquisition, articulation of speech and sign, breathing difficulties)

Educational/ Support Needs

Characteristics and Concerns

Speech-Language Pathologist; Sign Language Tutor; Intervener; School Psychologist

Speech-Language Pathologist; Sign Language Tutor; Intervener; School Psychologist

Certified Orientation and Mobility Specialist; Physical Therapist; Occupational Therapist

(Parents, Special and General Educators, & Interveners should consulted in most areas )

Team Members

N/A

(the State Deafblind Projects should be consulted often)

Consulting Professionals

Utilize a total Private Licensed communication approach3, 4, Psychologist; State 8, 9, 10, 11 ; interpret body Deafblind Projects language and gestures as communication8, 9; teach communication based on child’s interests10; create a responsive environment; offer augmentative and alternative communication devices12

Utilize a total Private Licensed communication approach3, 4, Psychologist; State 8, 9, 10, 11 Deafblind Projects ; provide time to process information and respond8, 9

11

Environment accessibility11; teaching routes11; cane11; wheelchair11; offer position changes1, 3, 11; encourage environmental exploration4,

(Team should discuss and modify to fit individual needs)

Examples of Strategies and Accommodations

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Environmental scan/ accommodations; identification of reasons for behavior (e.g., pain, sensory, environmental, etc.); determination of importance and immediacy of intervention Environmental scan/ accommodations; identification of reasons for behavior (e.g., pain, sensory, environmental, etc.); determination of importance and immediacy of intervention

Physical behaviors (e.g., scratching, hair pulling, biting, self-injury)

Verbal behaviors (e.g., repetitive statements or questions, yelling, complaining)

Educational/ Support Needs

Characteristics and Concerns

School Psychologist; Behavior Consultant; Teacher of the Deafblind

School Psychologist; Behavior Consultant; Teacher of the Deafblind

(Parents, Special and General Educators, & Interveners should consulted in most areas )

Team Members

Functional behavior assessment9, 10, 11; interpret behavior as communication4, 5, 7, 11; address behavior without taking away communication5, 11; consider pain and anxiety5

Functional behavior assessment9, 10, 11; interpret behavior as communication4, 7, 11; address behavior without taking away communication5, 11; consider pain and anxiety5

(Team should discuss and modify to fit individual needs)

Examples of Strategies and Accommodations

Private Licensed Psychologist; Primary Care Physician; Psychiatrist; State Deafblind Projects

Private Licensed Psychologist; Primary Care Physician; Psychiatrist; State Deafblind Project

(the State Deafblind Projects should be consulted often)

Consulting Professionals

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Behavioral

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Environmental scan/ accommodations; identification of reasons for behavior (e.g., pain, sensory, environmental, etc.); determination of importance and immediacy of intervention

Nonverbal behaviors (e.g., anxiety, agitation, pacing, withdrawal)

School Psychologist; Behavior Consultant: Teacher of the Deafblind

(Parents, Special and General Educators, & Interveners should consulted in most areas )

Team Members

Functional behavior assessment9, 10, 11; interpret behavior as communication4, 7, 11; address behavior without taking away communication5, 11; consider pain and anxiety5

(Team should discuss and modify to fit individual needs)

Examples of Strategies and Accommodations

Behavioral

Private Licensed Psychologist; Primary Care Physician; Psychiatrist; State Deafblind Projects

(the State Deafblind Projects should be consulted often)

Consulting Professionals

This is a portion of an Accepted Manuscript of an article published by Taylor & Francis in the International Journal of Developmental disabilities on July 30, 2019, available online: http://www.tandfonline.com/ doi:10.1080/20473869.2019.1642639

COPYRIGHT © 2018 Lillian Slavin and Timothy Hartshorne Permission to copy for professional and educational purposes

Educational/ Support Needs

Characteristics and Concerns

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498     CHARGE SYNDROME

• • • • • • • • • • • • • • • • • • • • • • • • •

Glossary Atresia of the choanae- the back of the nasal passage (the choanae) is blocked by bony or membranous tissue Audiologist- a professional who provides care in the prevention, identification, diagnosis, and treatment of hearing, balance, and other auditory disorders Augmentative and alternative communication (AAC) devices- devices utilized to help individuals with language impairments communicate Bone anchored hearing aids (BAHA)- a type of hearing aid that uses bone conduction to address conductive hearing loss, unilateral hearing loss, or mixed hearing loss Behavior consultant- a professional with expertise in behavior change Certified orientation and mobility (O&M) specialist- a professional who teaches individuals with visual impairments to travel safely, confidently, and increasingly independently in their environment Cochlear implant (CI)- a surgically implanted device which provides a sense of sound to individuals with sensorineural hearing loss Coloboma- the term used to describe a part of the eye that has not completely formed; typically results in visual field loss Communication bubble- the space around an individual within which they are able to communicate Deafblindness- combination of at least some degree of hearing loss and some degree of vision loss Dietician- a professional who specializes in diet and nutrition Expressive communication- the ability to produce communication Frequency-modulated (FM) system- an assistive listening device which uses radio signals to transmit speech directly to the listener’s ears in noisy environments Functional behavior assessment- strategies to identify the underlying reason behind behavior Genital hypoplasia- underdevelopment of genitals Hearing aid- a device which improves hearing by amplifying sound to individuals with conductive hearing loss Immunodeficiency- a weakened immune system Intervener- a para-professional who has specialized training in deafblindness and providing access to visual and auditory information missed because of the impact of having combined vision and hearing losses Learning media assessment- an assessment conducted to provide information regarding which senses an individual uses to gather information from his or her environment Neuropsychologist- a professional who specializes in understanding the relationship between the brain and behavior Occupational therapist (OT)- a professional who helps students engage in activities of daily living through therapy that addresses sensory and motor functions Ophthalmologist- a professional specializing in medical and surgical eye disease Optometrist- a professional who provides primary vision care Orofacial clefting- openings or splits in the roof (cleft palate) and/or lip (cleft lip) Otolaryngologist- a medical professional specializing with conditions of the ear, nose, and throat

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APPENDIX: CHECKLISTS     499 • • • • • •

• • •

• • • • • • •

Physical therapist (PT)- a professional who provides therapy to promote mobility and function of muscle systems Proprioceptive input- sensations from joints, muscles, and connective tissues which help you know where you are in space Proprioceptive system- the unconscious awareness of one’s muscles and joints, which sends information to the brain about body position, posture, and location Psychiatrist- a medical professional who diagnoses and treats mental disorders Receptive communication- the ability to understand information that is communicated to an individual Retinal detachment- an emergency when part of the eye, the retina, pulls away from supportive tissue, which may result in partial or complete loss of vision in the eye if untreated. If found quickly, reattachment and reduction of impact of the vision loss is possible School psychologist (SLP)- a professional who addresses and supports students’ academic, social, behavioral, and emotional development Speech-language pathologist- a professional who prevents, diagnoses, and treats speech, language, and communicative disorders State Deafblind Projects- the State Deafblind Projects offer consultative services for any child or young adult age birth through twenty-one years old who are suspected of having a combined vision and hearing loss in the United States. The State Deafblind Projects have a wealth of information about educating students who are deafblind and should be consulted with often Tactile defensiveness- a negative reaction or sensitivity to touch Teacher Consultant for the Hearing Impaired (TCHI)- a professional who assists students with deafness and hearing impairments in accessing classroom and school resources Teacher Consultant for the Visually Impaired (TCVI)- a professional who assists students with blindness and visual impairments in accessing classroom and school resources Teacher of the Deafblind- a teacher with expertise and experience in deafblindness Tracheoesophageal fistula (TEF)- connection between the esophagus and trachea Vestibular system- structures of the inner ear (semicircular canals) which provide information about balance and spatial orientation and responds to the position of the head in space Vestibulo-ocular reflex (VOR)- the ability to focus on a stationary object while the head is in motion

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500     CHARGE SYNDROME Selected Reference List Research Books and Articles 1 Brown, D. M. (2003). Educational and behavioral implications of missing balance sense in CHARGE syndrome. California Deafblind Services, reSources, 10(15), 1–3. 2 Brown, D. M. (2004). ‘Knowing the child’- Personal passports. California Deafblind Services, reSources, 11(4). 3 Brown, D. M (2011). Deaf-Blindness, Self-regulation and Availability for Learning: Some thoughts on educating children with CHARGE syndrome. California Deafblind Services, reSources, 16(3), 1–7. 4 Griffin H. C., Davis M. L., & Williams S.C. (2004). CHARGE syndrome: educational and technological interventions. RE:view, 35, 149–157. 5 Hartshorne, T. S., Hefner, M. A., Davenport, S. L. H., & Thelin, J. W. (Eds.) (2011). CHARGE Syndrome. San Diego: Plural Publishing. 6 Hartshorne, T. S., & Schmittel, M. C. (2016). Social-emotional development in children and youth who are deafblind. American Annals of the Deaf, 161, 444–453. 7 Hartshorne, T. S., Stratton, K. K., Brown, D., Brown, S. M., & Schmittel, M. C. (2017). Behavior in CHARGE syndrome. American Journal of Medical Genetics Part C, 175, 431– 438. 8 Lewis, C., & Lowther, J. (2001). CHARGE association: Symptoms, behaviour and intervention. Educational Psychology in Practice, 17, 69–77. 9 Smith, K. G., Smith, I. M., & Blake, K. (2010). CHARGE syndrome: An educators’ primer. Education & Treatment of Children, 33, 289–314. Recommended Resources CHARGE Syndrome Foundation: https://www.chargesyndrome.org/ National Center on DeafBlindness: https://nationaldb.org/ 10 CHARGE Education Professional Packet: https://www.chargesyndrome.org/forprofessionals/education-professional-packet/ California DeafBlind Services Newsletter: http://www.cadbs.org/newsletter/ 11 CHARGE Management Manual for Parents: https://www.chargesyndrome.org/forfamilies/resources/management-manual-for-parents/ 12 CHARGE Information Packet for Practitioners: https://www.sense.org.uk/content/chargeinformation-pack-practitioners Why I am me: All about CHARGE Syndrome: https://www.chargesyndrome.org.au/store/why-i-am-me Perkins School for the Blind: http://www.perkinselearning.org/videos/webcast/chargesyndrome-overview Texas School for the Blind and Visually Impaired: www.tsbvi.edu Services for students who are deafblind: https://www.cmich.edu/colleges/class/Centers/DBCentral/Documents/Comparison_of_Supports_ 6.22.16.pdf

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Index

Note: Page numbers in bold reference non-text material.

A A-PMT study. See Adapted Prelinguistic Milieu Teaching Abadie, V., 255 Abdominal migraines, 148–149, 150, 153 Abdominal pain, 148–149, 240 Abducens nerve (CN VI), 162 ABES. See Adaptive Behavior Evaluation Scale ABIs. See Auditory brainstem implants ABR/BAER. See Auditory brainstem response Absent kidney, 189 Absent thymus, 212 Actigraphy, 138 Acute external otitis, 112 Acute otitis media, 112 ADA. See Americans with Disabilities Act Adapted Prelinguistic Milieu Teaching (A-PMT) study, 361 Adaptive behavior, 258, 308 Adaptive Behavior Evaluation Scale (ABES), 308 Adaptive immune system, 209, 210 Adenoid hypertrophy, 123, 125 Adenoids, hypertrophy of, 131 Adenotonsillectomy, 135, 137 ADHD. See Attention deficit hyperactivity disorder Adolescents, 307–313 friendships, 310, 310, 472

independence, 311–313, 311, 313, 315, 317, 318, 319–320, 321, 473 transition from school to postsecondary life, 312–313, 313, 474 typical development, 307–308, 308 See also Adults and adolescents Adrenal insufficiency, 202, 207–208 Adults and adolescents, 307–323 about, 231–234, 233 adolescents, 307–313 case studies, 313–323, 314, 316, 318, 322 health issues in, 233 medical issues, 231–246 medical specialists consulted, 233 transition from school to postsecondary life, 312–313, 313, 474 Aggression, 244, 427, 432 Aging, vision and, 236 Aimoni, C., 253 Air conduction tests, 38 Airway endoscopy, 133 Airway obstruction, 123–139 adenoid hypertrophy, 125 aspiration, 130–135, 132–134, 242 choanal atresia (CA), 123, 124–125, 124, 126, 131, 135, 145, 228, 232, 236–237 evaluation and management, 129 glossoptosis, 127 larynx, 127, 128, 129–130, 131 micrognathia, 127

501

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502     CHARGE SYNDROME Airway obstruction (continued ) mouth and pharynx, 127 nasal obstruction, 123–127 retrognathia, 127 sialorrhea (drooling), 131, 135, 153, 164, 168 sinusitis, 125, 127 sleep abnormalities, 136–139, 243 supraglottic obstruction, 127–130 Alfano, C.A., 288 Alpha-2-antagonists, 432 Alpha agonists, 432, 433 American Sign Language (ASL), 333 Americans with Disabilities Act (ADA), 235–236 Ampulla, 106 Anesthesia, risks in CHARGE patients, 117, 127, 130, 154, 181–182, 228 Anophthalmos, 23 Anosmia, 59–61, 162 Antibiotics, for otitis externa, 112 Antibodies, 210 Anticonvulsants, 432 Antidepressants, 430, 432 Antihelix (ear), 103 Antihistamines, 432 Antihypertensives, 430 Antipsychotics, 430, 432, 433 Antitragus, 103 Anvil (bone), 104 Anxiety about, 280–290, 308, 427 in adolescents, 309 behavior and, 420–421, 421 defined, 287 sleep problems and, 287–290, 432 Anxiolytics, 430 Aortic arch defects, 177 Arousal threshold, 418–419 Arra-Robar, A., 219, 232, 467 ASL. See American Sign Language Aspiration, 130–135, 132–134, 242 about, 130–131, 135, 148 anesthesia and, 154 dangers of, 151 defined, 130 etiology, 131–132, 132 evaluation, 132–134, 133, 134

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feeding, 130–135, 132–134, 242 management, 134–135 sialorrhea (drooling), 131, 135, 153, 164, 168 velopharyngeal incoordination, 148 Assessment adaptive behavior, 258, 308 audiometric testing, 37–42 balance, 70, 71–72, 72–74 behavioral issues and, 39, 342 bladder fuction, 191 cardiovascular system, 179–180 central auditory processing (CAP), 41–42 cognitive development, 255–257, 258 communication skills, 393 corneal reflex, 165 cranial nerves, 160 drooling, 168 feeding, 154, 483–484 gastrointestinal symptoms, 150 growth problems, 201, 203 immune testing, 214 IQ, 255–257, 258 life skills, 245–246 musculoskeletal abnormalities, 226–227, 227 pain, 148, 169, 243–244, 442–443, 485–486 prelinguistic skills, 354–355, 356, 357–358, 359, 360–367, 364 sleep disturbance, 136, 138 smell, 160 swallowing dysfunction, 132–134, 133, 134 symbolization ability, 355, 356, 357–358 taste, 163 urinary system, 190–191 Assessment tools Autism Behavior Checklist, 263, 264, 417 Behavior Rating Inventory of Executive Functioning (BRIEF), 264–265 CHARGE Non-Vocal Pain Assessment (CNVPA), 148, 169, 243–244, 443, 446, 485–486

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INDEX     503 CHARGE Syndrome Checklist: Health Supervision Across the Lifespan, 97, 171, 219, 227, 228, 481– 482 Choosing Options and Accommodations for Children (COACH), 258 Communication Matrix, 366–367 Drooling Impact Scale, 168 Feeding Assessment Scale (FAS), 154, 483–484 Hometalk, 258 Inventory of Potential Communication Matrix, 366 MacArthur-Bates Communicative Development Inventories, 367 Noncommunicating Children’s Pain Checklist Revised (NCCPC-R), 442 Pediatric Pain Profile (PPP), 442 PEDSQL Gastrointestinal Symptoms Scale, 150 Person-Centered Planning techniques (MAPS), 258 Rowland Communication Matrix, 343 Sleep Disturbance Scale for Children (SDSC), 136 standardized language tests, 393 structured assessment tools, 367, 428 Supports Intensity Scale (SIS), 258, 308 Test for Early Communication and Emerging Language (TECEL), 367 Test of Gross Motor Development 3 (TGMD–3), 269 Tri-Focus Framework, 367–384 Assistive devices, 468–469 Association strategy, 84 Asthma, 242 Asymmetrical mixed hearing losses, 45–48, 47 Atrioventricular canal defect, 177 Attachment, 261, 262–263 Attention deficit hyperactivity disorder (ADHD), 427, 429, 432 Atypical complete DiGeorge syndrome, 212, 213 Audiograms, 37, 45, 47, 105 Audiometric testing, 37–42 audiometry, 38–40

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central auditory processing (CAP) assessment, 41–42 electrophysiologic testing, 41 immittance measures, 40 otoacoustic emissions, 40–41 Audiometry, 38–40 Auditory bone conduction devices, 44–45, 49–52, 49 Auditory brainstem implants (ABIs), 54–55 Auditory brainstem response (ABR/ BAER), 41 Auditory-evoked potentials, 41 Auditory nerve (CN VIII), 34, 35–36, 146, 161, 165, 168 Auditory system, medical issues, 98, 101–119 Augmented input dictionary, 373 Aural atresia, 107, 112 Auricle, 102, 102, 103, 103, 107 Autism gut microbiome, 149 mistaken diagnosis of, 6, 170–171 Autism Behavior Checklist, 263, 264, 417 Autism Treatment Network, 431 Autistic-like behavior, 244, 263–264, 302, 303, 427 Azrin, N.H., 277, 278

B B lymphocytes, 210 Back scooting, 90 BAHAs. See Bone-anchored hearing aids Bailey, D.B., 458 Bain, B., 225 Baker, B.L., 457 Balance, 65–74 about, 30, 271 assessment, 70, 71–72, 72–74 communication and, 74 cranial nerve anomalies, 146, 165 mechanism of, 66–68, 67, 68 vision and, 30, 67–69 See also Vestibular system Balance equipment, 272 Balance-oriented protocols, 271–272

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504     CHARGE SYNDROME Bale, S., 243 Barium swallow study, 132–133 Bashinski, S.M., 361, 365, 367 Batts, B., 278 BCDs. See Bone conduction devices. Behavior, 413–423 about, 24, 234, 244, 413, 422–423, 426 adaptive behavior, 258, 308 anxiety and, 287–290, 308, 309, 420–421, 421, 432 arousal threshold, 418–419 behavior triangle, 420–422, 421, 422 checklist for, 422, 423 as diagnostic characteristic, xiv disciplining, 461–462 education and, 470–471 goal directed, 415 gut microbiome, 149 hyperactivity, 427, 429, 432 idiosyncratic behaviors to communicate, 334 life skills, 245–246 mood disorder, 159, 430, 432 olfaction and, 62 pain expressed as, 420, 421, 441–442 parenting and, 455 persistence, 415 repetitive behaviors, 417 self-regulation, 95, 170–171, 244, 261, 264–265, 418–419, 421, 421 sensation seeking, 417, 419 sense of humor, 415, 416 shifting attention, 419–420 sleep and, 426 social skills, 261, 263–264 socially appropriate behavior, 4–5 transitioning to new activities, 419–420 See also Behavioral issues; Psychological/psychiatric issues; Social/emotional development Behavior Rating Inventory of Executive Functioning (BRIEF), 264–265 Behavior triangle, 420–422, 421, 422 Behavioral audiometric tests, 38 Behavioral issues in adults, 24, 234, 243, 244

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aggression, 244, 427, 432 assessment, 39, 342 audiometric testing and, 39 autistic-like behavior, 244, 263–264, 302, 303 explosive behaviors, 432 eye poking, 23, 244 idiosyncratic behaviors to communicate, 334 impulsivity, 432 obsessive-compulsive disorder, 244, 427, 432 self-injury, 244, 427, 432 self-stimulatory behaviors, 244, 417, 418 sleep and, 286–287 tactile defensiveness, 39, 82, 244 tics, 427, 432 triggers, 433 See also Behavior; Psychological/ psychiatric issues; Social/ emotional development Behavioral phenotype, 413, 414–420, 415 Behavioral treatment, 430–431 Behind-the-ear hearing aids. See BTE hearing aids Benzodiazepines, 430, 432 Bergman, J.E.H., 232 Berk, L.B., 278 Bernstein, V., 244, 417, 427 Bilateral choanal atresia, 124, 124, 125 Bilateral ectrodactyly, 218 Bilateral facial palsy, 309, 334 Bilateral ossicular conductive hearing losses, 48–49, 48 Bilateral vestibular areflexia, 70 Bilingualism, 340 Biolfa olfactory test, 59–60 Birman, C.S., 349 Bisphosphonate, 240 Bithermal binaural caloric tests, 73 Blacher, J., 457 Bladder, 188, 191 Bladder abnormalities, 189–190 Blake, K.D., xii, 24, 143, 150, 153, 201, 219, 226, 231–232, 234, 240, 241, 278, 306, 311, 415, 427, 467, 469

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INDEX     505 Blasco, P.M., 458 Blindness incorrectly diagnosed, 20 legal blindness, 21 See also Vision Blinking, 164, 165 Blood sugar, 149 Bodily sensations, 78–80 See also Tactile system Body awareness, 89 Body image dysmorphia, genitalia, 192 Body position, 79 See also Posture; Vestibular system Body signs, 83 Bone abnormalities, 99 Bone age, 203, 205 Bone-anchored hearing aids (BAHAs), 115–117, 337 Bone conduction devices (BCDs), 44–45, 49–52, 49, 115–116 Bone conduction tests, 38 Bone densitometry, 226, 227, 227, 228 Bone health, 150, 239–240 Bones abnormalities, 99, 228 bone age, 203, 205 fractures, 239 osteoporosis, 99, 202, 225–226, 228, 239–240 Bony labyrinth, 35 Botox for drooling, 135, 153 for migraines, 170 Bovo, R., 253 Bowel and bladder control, 278–279 See also Toilet training Bowel obstruction, 148, 149 Bowen, S.K., 340 Brady, N.C., 361, 365, 367 Brain abnormalities, 79–80, 166–167, 167 Brazelton, T.B., 277 Breath-holding, 168 BRIEF. See Behavior Rating Inventory of Executive Functioning Brock, K.E., 223 Bronchoscopy, 133–134 Brown, D., 118, 235, 415, 417, 420, 471

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Brown, J.P., 225 Bruce, S.M., 347, 361, 365, 369, 372, 394, 395 Brum, C., 347, 348 Bruxism, 238 BTE hearing aids (behind-the-ear hearing aids), 34, 43, 44, 115 Buck, L.B., 58 Bullying, 450 Butt scooting, 90

C CA. See Choanal atresia Cabizuca, M., 452 Caloric tests, 73 Camp Abilities website, 272 Campbell, D., 209, 243 Camptodactyly, 218 Canalplasty, 112 CAP assessment. See Central auditory processing (CAP) assessment Cardiac arrhythmia, 98 Cardiovascular system, 98, 175–183, 232 in adults, 236 congenital heart defects (CHDs), 175–183, 236, 237 DiGeorge sequence, 180 evaluation, 179–180 heart disease, 176, 232 heart failure, 243 heart function, 175–176 malformations as diagnostic characteristic, xiv, 98, 145, 175 management, 180–183 postural orthostatic tachycardia syndrome (POTS), 98, 180 resources, 176–177 surgery, 180–182 Cascella, P.W., 395 Cataracts, 16, 18, 18, 162 CD3 T cells, 211 CD3 T lymphocytes, 210 Central auditory processing (CAP) assessment, 41–42 Cerebellum, vestibular system, 67–70 Cerumen (earwax), 103–104, 113

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506     CHARGE SYNDROME CHARGE Non-Vocal Pain Assessment (CNVPA), 148, 169, 243–244, 443, 446, 485–486 CHARGE syndrome (CS) about, xi, xv, 1, 159–160 in adolescents, 307–313 in adults, 231–246, 313–323 communication systems, xiv–xv, 329–349 forms and functions in, 391, 407 prelinguistic communication, 353–386 congenital heart defects (CHDs), 175–183, 236, 237 dental care, 238 developmental issues, xiii–xiv, xiv changes over life cycle, 293–323 cognitive development, 253–258 motor development, 5, 267–274 sleep abnormalities, 285–290 social/emotional development, 261–265 toileting, 277–283 diagnosis, xii–xiii, xiii, xiv, 18, 98, 99, 145, 160 dysphagia. See Swallowing dysfunction feeding. See Feeding difficulties history, xii in infancy, 293–300 intellectual function, 170–171 medical issues in adults, 231–246 airway issues, 98, 101, 123–139 cardiovascular system, 98, 175–183, 232, 236 endocrine system, 99, 195–208, 238–239 gastrointestinal dysfunction, 98, 143–155 immune system, 99, 209–214, 243 musculoskeletal system, 99, 217–228 neurodevelopment, 98, 159–171 otologic issues, 98, 101–119 renal and urinary systems, 98, 187–193, 237, 238 origin of name, xi–xii

Plural_Hartshorne_Index.indd 506

pain, 78, 148–149, 168–169, 243–244, 439–462 psychiatric/psychological issues, 425–437 behavior, 24, 234, 244, 413–423 educational issues, 465–477 pain, 439–462 parenting, 455–463 stress, 449–453 sensory issues, 1, 3–95 consequences of vestibular and proprioceptive dysfunction, 87 deafblindness, 1, 3, 4, 4–5, 74 eye and vision, 3–7, 4–5, 15 hearing, 3–5, 7–8, 33–55 olfactory system (smell), 3, 4, 57–62 tactile system, 77–85 vestibular system (balance), 3, 65–74 sexuality and, 239 swallowing issues. See Swallowing dysfunction zebrafish CS model, 146, 148, 149 CHARGE Syndrome Checklist: Health Supervision Across the Life­ span, 97, 171, 219, 227, 228, 481– 482 CHARGE Syndrome Clinical Database Project, 278–279 CHARGE Syndrome Foundation, 459, 477 CHARTING the Life Course, 245–246 CHD7 gene, xii, 60, 61, 160, 179, 218, 219, 222 CHDs. See Congenital heart defects Cheek packing, 146, 151, 241 Chen, D., 365, 373 Chewing, cranial nerve deficits, 131, 146, 167–168 Child development. See Developmental issues; Developmental milestones Childhood CHARGE in, 301–307 hospital stays and child development, 297 major issues in, 302, 302 See also Developmental issues; Developmental milestones

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INDEX     507 Chin-up position, 25 CHL. See Conductive hearing loss Chloral hydrate sedaton, 181 Choanal atresia (CA), xiii, 123, 124–125, 124, 126, 131, 135, 145, 228, 232, 236–237 Choking, 150, 151 Cholecystitis, 150 Chorioretinal coloboma, 18–23, 19, 21, 162 Chronic ear infections, 34, 46, 113 CI. See Cochlear implants Cimprich, J., 177 Cincinnati Children’s Hospital, 176 Ciorba, A., 253 Circadian rhythm disorders, 137, 286 Circle of Friends, 310, 472 Cleft lip/palate, xiv, 123, 131, 145, 147, 238, 241 Clinodactyly, 218 Clival hypoplasia, 167 Cloney, K., 146 Clumsiness, 93–94 COACH. See Choosing Options and Accommodations for Children Coactive signing, 83, 330 Cochlea, 34, 35 anatomy, 104, 105, 106 aperture, 110 cochlear nerve, 105, 106, 110 hair cells, 105, 110, 114 hypoplastic, 110 nerve fibers, 105 Cochlear implants (CI), 52–54, 116–117, 337 Cochlear nerve abnormalities, 110 anatomy, 105, 106 Cochlear nerve implant, 165 Cognitive development, 253–258 about, 253–254, 258, 348 assessment, 255–257, 258 language development and, 339–340 low normal cognitive functioning, 414–415 prognostic factors, 253–255 Cole, J., 90 Cole, J.O., 90

Plural_Hartshorne_Index.indd 507

Coloboma of the eye about, 15–23, 27–28, 297, 468 in adults, 236 chorioretinal coloboma, 18–23, 19, 21, 162 defined, 15 as diagnostic characteristic, xiii, 18 embryology, 15, 16 forme fruste chorioretinal coloboma, 21, 21 foveal involvement, 27–30, 29 frequency of occurrence, xiii, 19, 145 hanging upside down posture, 20, 92, 118, 119, 421–422, 422 of the iris, 15–16, 18 of the lens, 16, 17 location of, 19, 20 of the retina and optic nerve, 18–23, 19, 21 retinal tears, 19, 20, 22, 22 Communication in adults, 235 assessing communication skills, 393 balance and, 74 communication bubble, 40, 74, 335, 336 communicative form, 394 communicative function, 394, 395 education and, 472 expressive communication, 368–369, 370 –371, 441 forms and functions in, 391–407 increasing opportunities for, 379–380, 381–382 indicating pain, 441–442 King Study, 396, 397– 400, 401–407 parenting, 461 preintentional communication, 391 symbolic communication, 391, 405, 406, 407 symbolic forms of, 394 See also Communication systems; Language and language development; Speech Communication Bill of Rights, 354 Communication bubble, 40, 74, 335, 336

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508     CHARGE SYNDROME Communication dictionary, 334 Communication Matrix, 366–367 Communication rate, 360–362, 394 Communication skills about, 353–354 assessment, 393 language skills, 341–347 prelinguistic skills, 341 Communication systems, xiv–xv, 327, 329–349 audiometric testing and, 39, 39–40 communication bubble, 40, 74, 335, 336 communication dictionary, 334 communication rate, 360–362, 394 forms and functions in, 391–407 gestures, 334, 362–364, 364 idiosyncratic behaviors, 334–335 manual signs, 329–330, 331, 337, 338 modes of communication, 329–335, 331 prelinguistic communication, 353–386 presymbolic stage, 335, 401, 402, 403 signing, 83, 236, 329–330, 331, 335, 392 speech-generating device (SGD), 333 symbolic stage, 335 tactile-based communication, 83 Tadoma method, 333 total communication (TC), 334–335 transitional stage, 335, 403, 404, 405 visual symbols, 330, 332, 335 voice output communication aids (VOCAS), 332–333, 335 See also Language and language development; Prelinguistic communication; Speech Communicative form, 394 Communicative function, 394, 395 Communicative intentionality, 358, 359, 360 Complete DiGeorge anomaly, 209, 212, 213 Complete thymic aplasia, 212 Concha, 103 Conditioned play audiometry, 38

Plural_Hartshorne_Index.indd 508

Conductive hearing loss (CHL), 33, 34, 36, 48–49, 48, 104, 109, 113–114 Congenital heart defects (CHDs), 175–183 about, 176–177, 236, 237 aortic arch defects, 177 atrioventricular canal defect, 177 conotruncal malformations, 176, 177, 177 diagnosis, 175, 177, 179–180 frequency of, 178 septal defects, 176 surgery, 180–181 tetralogy of Fallot, 176 types, 177, 178, 179 See also Cardiovascular system Conotruncal malformations, 176, 177, 177 Constipation, 149, 153, 240 Contact gestures, 334, 363 Conventional gestures, 363 Cornea, microcornea, 23, 24 Corneal reflex, 165 Corpus callosum, 36, 69–70 Correa-Torres, S.M., 340 Cortical visual impairment (CVD), 28 Coutinho, E.S., 452 Cranial nerve abnormalities about, 145, 146, 160 aspiration, 131 CN 0, 57 CN I (olfactory), 57, 145, 146, 160, 161, 162 CN II (optic), 18–23, 19, 21, 24–25, 26, 161, 162 CN III (oculomotor), 161, 162 CN IV (trochlear), 161, 162 CN V (trigeminal), 145, 146, 161, 162–163, 163, 167, 168, 169 CN VI (abducens), 162 CN VII (facial), 131, 146, 161, 163– 165, 164, 167, 168 CN VIII (auditory), 34, 35–36, 146, 161, 165, 168 CN IX (glossopharyngeal), 131, 145, 146, 165, 168 CN X (vagus), 131, 145, 146, 148, 161, 166, 168

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INDEX     509 CN XI (spinal accessory), 145, 161, 166 CN XII (hypoglossal), 161, 166, 168 as diagnostic characteristic, xiii, 145 evaluation, 160 feeding and, 167–168 gastrointestinal system and, 98 neurodevelopment and, 98 palsy, 24–25, 26, 146, 164, 164, 309, 334, 426, 441 pharynx, 127 speech and, 168 swallowing and, 167–168 toilet training and, 280 Crawling, 5, 90 Crnic, K.A., 457 Cross, A.H., 459 Cryptorchidism, 188 CS. See CHARGE syndrome Cupula, 67 CVD. See Cortical visual impairment Cypher, A.D., 417

D Dailor, A.N., 427 Damen, S., 369 Dammeyer, J., 254, 343, 344 Daoud, M.A., 201, 278, 311, 427 Daufenbach, D.R., 22 Davenport, S.L.H., 74, 427 de Geus, C.M., 172 de Kort, A., 244, 427 Deafblindness about, 1, 3, 4, 4 –5, 74 case study, 318 cochlear implants for, 337 cognitive assessment and, 257 communicative forms, 394, 395 education, 300, 301 intentional communicative acts, 361 literacy, 347–348 Support Service Providers (SSPs), 236 Deictic gestures, 362, 363 Delayed pubertal development, 188, 189 Delehanty, A.D., 346 Denno, L.S., 244, 417, 427

Plural_Hartshorne_Index.indd 509

Dental care, 238 Depression, 309, 427, 432 Deprivation amblyopia, 25 Descriptive gestures, 362–363 Deuce, G., 465 Developmental issues about, 145, 159, 251, 295–296, 296 attachment, 261, 262–263 changes over life cycle, 293–323 cognitive development, 253–258 hospital stays and, 297 low muscle tone and, 224 motor development, 5, 65–66, 90, 93, 267–274 physical influences on, 296 posture, 90, 91–94, 92 self-regulation, 95, 170–171, 244, 261, 264–265, 418–419, 421, 421 sleep, 285–290 social/emotional development, 261–265 toilet training, 192, 277–283 vestibular function, 70, 71 Developmental milestones delayed pubertal development, 188, 189 education and, 470 growth, xiii, xiv, 99, 182, 195–197, 197 language production, 342–344, 343 –344 motor development, 70, 71, 268–269 toilet training, 277 walking, 65–66, 90, 303–304 DEXA scan, 151, 226, 227, 239–240 DiGeorge sequence, 180 Disciplining, 461–462 Discriminative touch, 79, 79 Distal gestures, 334, 363 Distortion product otoacoustic emissions (DPOAEs), 40 Down syndrome, gut microbiome, 149 Downing, J., 373 Doyle, C., 240 DPOAEs. See Distortion product otoacoustic emissions “Drawing” onto the body, 83 Drooling. See Sialorrhea

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510     CHARGE SYNDROME Drooling Impact Scale, 168 Dual-energy x-ray absorptiometry (DEXA) bone scans, 151 Dumping syndrome, 149 Dunst, C.J., 459 Duplicated kidney, 189 Dynamic posturography, 74 Dysphagia. See Swallowing dysfunction

E Ear. See Ears Ear anomalies, 33–34, 35, 468 conductive hearing loss (CHL) and, 113–114 described, 107–111, 108, 109 as diagnostic characteristics, xiii ear canal, 33, 44, 102–103 external ear, 107, 108, 111–114 inner ear, xiii, 110–111, 114 interventions, 111–113 management, 111–113 microtia, 107, 111 middle ear, xiii, 107–109, 108, 109, 113–114 Mondini defect, 35, 110 vestibular system, 111 Ear canal, 33, 44, 102–103, 107, 112 Ear drops, for otitis externa, 112 Ear infections, 107, 108, 112 Ear molds, 34, 43 Eardrum, 102, 104, 113 Earlobe, 103 Ears about, 101 anatomy, 34–36, 35, 101, 102–107, 102, 103, 106 components, 102 embryology, 57, 102 medical issues, 98, 101–119 otitis media, 104–105, 107–108, 210 See also Ear anomalies; Hearing; Hearing loss Earwax. See Cerumen Echocardiography, 179 Ectopic kidney, 189 Education, 300, 301, 465–477 assistive devices, 468–469

Plural_Hartshorne_Index.indd 510

communication and, 472 early intervention services, 471–472 education team, 301 educational checklist, 466–471, 477, 487–500 IEP, 305 inclusion in, 472 medical issues and, 468 mobility and, 472 nursing services in schools, 467 posture and, 469, 469 priorities, 471–474 reading comprehension, 306 resources, 477 school-based services, 304–306, 305, 357 segregated classrooms, 310 sensory issues and, 467–469 special education, 305, 465, 466 stress from, 451 team approach, 474, 474–476 transition planning to postsecondary life, 312–313, 313, 474 Educational Checklist, 466–471, 477, 487–500 Educator Professional Packet, 477 Einfeld, S.L., 425 Electrophysiologic testing, 41 Embryology CHARGE syndrome and, 159–160 ears, 57, 102 eye, 15, 16 kidneys, 188 olfactory system, 57 Emotional regulation, 95, 170–171, 244, 261, 264–265, 418–419, 421, 421 Employment, 312 Endocrine system, 195–208 about, 99, 195, 196, 208, 238–239 adrenal insufficiency, 202, 207–208 dysfunction, 202 growth, 195–201, 197, 203 growth hormone deficiency, 202, 203–204 heart disease and, 180 hypogonadotropic hypogonadism (HH), 59, 61, 200, 202, 204, 238 hypothyroidism, 202

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INDEX     511 osteoporosis and, 99, 202, 225–226, 238, 239–240 puberty, 188, 189, 199–201, 203, 204–206, 239 thyroid gland, 207 Endolymph, 67 Endolymphatic duct, 105, 107 Endolymphatic sac, 105, 107 Endoscopy, 133 Enlarged vestibular aqueduct (EVA), 111 Epileptic events, cranial nerves and, 168 Esotropia, 27 Estrogens, 99, 204 Eustachian tube dysfunction, 34, 104–105 EVA. See Enlarged vestibular aqueduct Executive functioning, 264, 420 Exotropia, 27 Explosive behaviors, 432 Expressive communication, 368–369, 370 –371, 441 External auditory canal, 102 External auditory meatus, 102 External ear anatomy, 102–104, 102, 103 anomalies, 107, 108, 111–114 auditory function, 33 malformations and hearing aids, 33–34, 107 medical issues, 107, 108 Eye exam, 27–28 Eye gouging, 23 Eye poking, 23, 244 Eye position, vestibular system, 65–68 Eye rubbing, 23 Eyelid closure, 24–25 Eyelids, 24–26, 164, 165 Eyes, 15–30, 162 in adults, 236 anophthalmos, 23 balance and, 30, 67–69 blinking, 164, 165 cataracts, 16, 18, 18, 162 chronic tearing, 26 CN VII palsy, 24–25, 26 coloboma of the eye, 15–23, 17–19, 27–28, 145, 162, 297, 468 cranial nerves and, 161, 162

Plural_Hartshorne_Index.indd 511

embryology, 15, 16 examination of, 27–28 eyelid closure, 24–25 eyelid ptosis, 25–26 microcornea, 23, 24, 162, 236 microphthalmia, 236 microphthalmia, 23–24, 25, 162 misalignments, 27 nasolacrimal duct obstruction, 26 nystagmus, 26, 67 ocular tracking, 73 ophthalmic trauma, 23 overview, 3–7 refraction, 27–28, 236 retinal tears, 19, 20, 22, 22 saccades, 68–69 smooth pursuit, 68–69 strabismus, 27 See also Vision

F Facial expressions, 426, 441 Facial features as diagnostic characteristic, xiv palsy, 24–25, 26, 146, 164, 164, 309, 334, 426, 441 weakness (paresis), 164 Facial gestures, 334 Facial nerve (CN VII), 131, 146, 161, 163–165, 164, 167, 168 Facial palsy, 24–25, 26, 146, 164, 164, 309, 334, 426, 441 Fanurik, D., 442 FAS. See Feeding Assessment Scale Fatigue, cognitive assessment and, 256 Feeding and feeding difficulties about, 144–145, 145, 198, 241–242, 242 aspiration, 130–135, 132–134, 242 assessment, 154, 483 – 484 behavioral/therapeutic interventions, 151–152, 152 choking, 150, 151 cranial nerve deficits, 131, 167–168 feeding modification, 134–135, 151 gastrointestinal function and, 144 interrupted by surgeries, 147

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512     CHARGE SYNDROME Feeding and feeding difficulties (continued ) interventions, 134–135, 151 mouth stuffing, 146, 151 nutritional problems, 198 packing food into cheeks, 146, 151, 241 sense of smell and, 61–62, 146 swallow prompt, 151, 153 taste and, 62 tongue and, 166 tube feeding, 147, 147, 148 See also Swallowing dysfunction Feeding Assessment Scale (FAS), 154, 483 – 484 Feeding modification, 134–135, 151 Feeding therapy, 151 Feeding tube, 147, 147, 148 FEES. See Fiberoptic endoscopic evaluation of swallowing Felt touch, 80 Females delayed pubertal development, 189, 200 genitalia, xiv, 98, 187, 189, 190 growth in, 200, 201 hormonal issues, 99 sense of smell, 58 treatment of delayed or absent puberty, 205 Ferrell, K.A., 361, 369 Fiberoptic endoscopic evaluation of swallowing (FEES), 133, 134 Figueira, I., 452 FIRST WORDS Project, 363 Five-point crawling, 90 Flexible bronchoscopy, 133–134 “Floppy infants,” 70 Follicle-stimulating hormone (FSH), 204 Foot anomalies, 218, 222, 223–224, 223 Foot stomping, 93 Forebrain defects, 167, 167 Forme fruste chorioretinal coloboma, 21, 21 Forward, K.E., 226, 240 Forward bending test, 221 Fovea, coloboma involving, 27–28, 29–30, 29

Plural_Hartshorne_Index.indd 512

Foxx, R.M., 277, 278 Franco, M.A.R., 265 “Frankfurt plane,” 201 Free, R., 254 Friendships, 306–307, 310, 310, 347, 417, 472 Friman, P.C., 278 Fun Chi strategy, 265 Functional communication therapy, 334 Functional vision, 20–21, 28–29 Fused vertebra, 219 Fussner, J.C., 45, 335, 337, 427

G G-tube. See Gastrostomy tube Gagging, cranial nerve deficits, 131 Gait, 90 Gallstones, 150 Gastroesophageal reflux disease (GERD), 148, 153, 238, 240 Gastrointestinal dysfunction, 98, 143–155, 240–241, 241 abdominal migraines, 148–149, 150, 153 abdominal pain, 148–149, 240 about, 144, 145, 154–155 adolescence and adulthood, 150 aspiration, 148 bowel obstruction, 148, 149 constipation, 149, 153, 240 cranial nerve anomalies and, 145, 146 dumping syndrome, 149 gastroesophageal reflux disease (GERD), 148, 153, 238, 240 gut microbiome, 149–150 interventions, 151–154, 152 investigations, 150–151 monitoring, 154 oral cavity crowding, 145, 146–147 Gastrointestinal tract, development, 144–145 Gastrostomy tube, 135, 147, 148 Gavin, M., 347, 394 General anesthesia, risks in CHARGE patients, 117, 127, 130, 154, 181–182, 228

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INDEX     513 Genetics, CHD7 gene, xii, 60, 61, 160, 179, 218, 219, 222 Genital issues about, 188–190, 192 females, xiv, 98, 187, 189, 190, 200 labial abnormalities, 98, 189, 189 males, xiv, 98, 187, 188, 188, 190, 200, 205, 206 micropenis, 98, 188, 206–207 undescended testes, 98, 188, 192, 204, 205, 207 See also Puberty Gentle touch, 79 Gestures, 334, 362–364, 364 Ginsburg, G.S., 288 Glossopharyngeal nerve (CN IX), 131, 145, 146, 161, 165, 168 Glossoptosis, 127 Glycopyrrolate, 135 Gonadotropin-releasing hormone (GnRH), 59 Gondotropins, 204 Gradstein, J., 201, 278, 311, 427 Graham, J.M., Jr., 219, 226, 231–232 Green, G.E., 156 Grialou, T.L., 263, 264, 302, 417, 420 Grommets. See Ventilation tubes Groves, L., 427 Growth, 195–201, 203 assessment, 201, 203 in children with CHARGE syndrome, 197–201, 203–204 delayed pubertal development, 188, 189, 199–201 Infancy-Childhood-Puberty (ICP) model, 195–197, 197 intrauterine growth retardation (IUGR), 198 normal growth, 195–197 phases, 195–197 retardation as diagnostic characteristic, xiii,,xiv, 99, 182, 198, 199–204 Growth hormone deficiency, 202, 203–204, 239 Guess, D., 367 Gut microbiome, 149–150 Guthrie, W., 346

Plural_Hartshorne_Index.indd 513

H Hair cells, 105, 110, 114 Hale, C.L., 156, 218 Hammer (bone), 104 Hand anomalies, 218, 222–223, 222– 223, 228 “Hand-over-hand” signing, 83 “Hand-under-hand” signing, 83, 330, 394–395 Handler, S.D., 236–237 “Hands-on” signing, 83 Hanging upside down posture, 20, 92, 118, 119, 421–422, 422 Haptic signs/gestures, 83 Hardin, M., 225 Hartshorne, J.K., 306 Hartshorne, N., 237, 243, 245, 246, 264, 311, 312, 347, 427 Hartshorne, T.S., 5, 136, 235, 243, 262, 263, 264, 302, 303, 330, 340, 343, 391, 417, 420, 427, 428, 440–441, 443, 444, 445, 451, 457, 459, 461, 462, 466, 467, 471 Head movements, 74 Head position, 25, 34 Head upside down posture, 20, 92, 118, 119, 421–422, 422 Headaches, 169–170 Headband, nonsurgical BCDs, 50 Health literacy, 235–236 Hearing, 33–55 about, 3–5, 7–8, 101 cranial nerves, 165 deafblindness, 1, 3, 4, 4–5, 74 mechanism, 103–104 See also Ears; Hearing aids; Hearing loss Hearing aids, 43–44 advantages and disadvantages, 115 audiometric testing, 37–42 bone-anchored hearing aids (BAHAs), 115–117, 337 bone conduction devices (BCDs), 44–45, 49–52, 49, 115–116 BTE hearing aids (behind-the-ear hearing aids), 34, 43, 44, 115

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514     CHARGE SYNDROME Hearing aids (continued) chronic middle ear infections and, 34 ear infections and, 34, 107 ear molds, 34, 43 external ear malformations and, 33–34, 107 problems using, 44 Hearing loss in adults, 235 asymmetrical mixed hearing losses, 45–48, 47 audiogram configurations, 37, 45, 47, 105 audiometric testing, 37–42 causes, 104, 113, 165 chronic ear infections, 113 cognitive assessment and, 255 cranial nerves, 165 degrees of, 37, 37 in infants, 297–298 interventions, 42–45 auditory brainstem implants (ABIs), 54–55 bone-anchored hearing aids (BAHAs), 115–117, 337 bone conduction aids, 44–45, 49–52, 49, 115–116 cochlear implants (CI), 52–54, 116–117, 337 hearing aids. See Hearing aids nonsurgical bone conduction devices, 50–51 remote microphone systems, 43 surgical bone conduction options, 51–52 language development and, 44–45, 336–337 mixed hearing loss, 36–37, 50, 114–115 toilet training and, 280 types, 36–37, 45–49 very large bilateral ossicular conductive hearing losses, 48–49, 48 See also Conductive hearing loss; Sensorineural hearing loss Heart normal function, 176 resources, 176–177

Plural_Hartshorne_Index.indd 514

Heart defects, 175 See also Cardiovascular system Heart disease, 176 resources, 176–177 Heart Encyclopedia, 176 Heart failure, 243 Heartpedia (app), 176–177 Heathy Bodies Toolkit, 239 Hefner, M.A., 427 Helix (ear), 103 Hemivertebra, 219, 220 HH. See Hypogonadotropic hypogonadism Hiking poles, 90 Hilgenkamp, T.I., 245 Hillocks of His, 102 Hindbrain defects, 167 Hirayama disease, 224 Hiya Moriah (book), 472 Hockey stack palmar crease, 222, 222, 228 Hometalk (assessment tool), 258 Hormone replacement therapy, 239 Hormones abnormalities, 99 adrenal gland, 207–208 delayed pubertal development, 188, 189, 199–201 endocrine system, 195–208 hypogonadotropic hypogonadism, 59, 61, 200, 202, 204 pituitary hormones, 204 puberty, 188, 189, 199–201, 203, 204–206 thyroid gland, 207 Horseshoe kidney, 190 Hospital stays, child development and, 297 Hsu, P., 209, 210, 211, 243 Hudson, A., 241 Hudson, A.S., 143 Hulme, J.B., 225 Huttunen, K., 360, 395–396 Hydronephrosis, 190 Hypertonia, 218 Hypertrophy of tonsils, 131 Hypnotics, 432 Hypogammaglobulinemia, 211, 242

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INDEX     515 Hypoglossal nerve (CN XII), 161, 166, 168 Hypoglossal nerve stimulation therapy, 151–152 Hypogonadism, 239 Hypogonadotropic hypogonadism (HH), 59, 61, 200, 202, 204, 238 Hypoplastic cochlea, 110 Hypoplastic vertebra, 218 Hyposmia, 59–61 Hypothalamic hypogonadotropic hypogonadism, 59 Hypothyroidism, 202, 239 Hypotonia, 118, 218, 224–225, 225, 228 Hypotropia, 27

I IAC. See Internal auditory canal ICA. See Intentional communicative act Idiosyncratic behaviors, 334–335 IEP, 305 Immittance measures, 40 Immune system, 99, 209–214, 243 abnormalities, 211 atypical complete DiGeorge syndrome, 212, 213 complete DiGeorge anomaly, 209, 212, 213 infectious susceptibility, 210 severe combined immunodeficiency (SCID), 209, 211, 242 testing, 214 thymic transplantation, 213 thymus, 210–213 Immunodeficiency, 209–214 Immunoglobulin, 210 Immunoglobulin A deficiency, 243 Implanted active transducer, 52 Impulsivity, 432 Inclusion, in education, 472 Incus, 104, 113, 114 Independence adolescents, 311–313, 311, 313, 315, 317, 318, 319–320, 321 in educational settings, 473 Infancy-Childhood-Puberty (ICP) model, 195–197, 197

Plural_Hartshorne_Index.indd 515

Infants attachment, 261, 262–263 CHARGE syndrome in, 293–300 “floppy infants,” 70 language development, 363, 364 medical issues, 298, 299 medical specialists consulted, 298, 300 See also Prelinguistic skills Infectious susceptibility, 210 Inferior chorioretinal coloboma, 20 Inferior vestibular nerve, 105 Innate immune system, 209–210 Inner ear anatomy, 34, 35, 102, 104, 105–107, 106 anomalies, xiii, 110–111, 114 medical issues, 110–111 vestibular part of, 66–67, 67 Insomnia, 138 Intellectual function, 170–171 IntelliTools, 333 Intentional communicative act (ICA), 360–361 Intentionality skills, 358, 359, 360 Interactive signing, 330 Internal auditory canal (IAC), 35–36 Internet, 314, 347, 348 Interventions about, 42 aspiration, 134–135 balance, 271 bone health, 239–240 delayed or absent puberty, 205–206 ear anomalies, 111–114 early intervention, 471–472 ears partial ossicular reconstruction prosthesis (PORP), 114 sensorineural hearing loss (SNHL), 115–117 stapedectomy, 114 total ossicular reconstruction prosthesis (TORP), 114 tympanostomy tubes, 34, 105, 112–113, 210 feeding modification, 134–135, 151, 242

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516     CHARGE SYNDROME Interventions (continued) gastrointestinal dysfunction, 151–154, 152 growth problems, 203–204 hearing loss, 42–45 auditory bone conduction devices, 44–45, 49–52, 49, 115–116 auditory brainstem implants (ABIs), 54–55 bone-anchored hearing aids (BAHAs), 115–117, 337 bone conduction aids, 44–45, 49–52, 49, 115–116 cochlear implants (CI), 52–54, 116–117, 337 hearing aids. See Hearing aids nonsurgical bone conduction devices, 50–51 ossicular repair or reconstruction, 34 remote microphone systems, 43 surgical bone conduction options, 51–52 idiosyncratic behaviors, 334 language stimulation, 338–339 literacy instruction, 347–348 low vision interventions, 28–30, 29 motor competence, 271–274, 273 musculoskeletal abnormalities, 227–228 osteoporosis, 240 pain, 446 physical activity for children with vision loss, 273 prelinguistic communication, 367–384 psychological issues, 429–431, 432, 433, 433 – 436 psychotropic medications, 288, 429–431, 432, 433, 433 – 436 renal system, 191–192 school-based services, 304–306, 305 self-regulation, 265 sensory defensiveness, 297 sensory stimulation, 81–82, 82, 419 sleep problems, 138–139, 288–290, 289 social skills, 264, 347

Plural_Hartshorne_Index.indd 516

stimulus control therapy, 286, 289, 289 tactile experiences, 80–84 thymic transplantation, 213 urinary system, 191–192 walking aids, 90 Intrauterine growth retardation (IUGR), 198 Inventory of Potential Communication Matrix, 366 IQ, 253–258, 258 Iris, coloboma, 15–16, 18 Irritable bowel syndrome, gut microbiome, 149 Issekutz, K.A., 219, 231–232, 427 Iverson, J., 362

J Jacob, S., 254, 301 Janssen, M.J., 368, 369 Jejunostomy, 148 Johnson, N., 369 Joint attention, 81 Jones, C., 394, 427 Josse, R.G., 225 Jyonouchi, S., 243

K Kallmann syndrome, 59, 61, 205 Kidneys abnormalities, 189–190, 189 –190 absent kidney, 189 cardiac surgery and, 182 diagnosing abnormalities, 190–191 duplicated kidney, 189 ectopic kidney, 189 embryology, 188 functions, 187–188 horseshoe kidney, 190 hydronephrosis, 190 interventions, 191–192 multicystic dysplastic kidney, 190 pelvic kidney, 190 vesicoureteric reflux, 98, 188, 190, 192 See also Renal system

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INDEX     517 King, E.A., 332, 340, 343, 344, 345, 396 King Study, 396, 397– 400, 401–407 Kingery, J.N., 288 Klassen, T.P., 278 Komatsuzaki, K.M., 242 Kong, F., 240, 242 Krivenki, S.E., 70

L Labial abnormalities, 98, 189, 189 Lalani, S.R., 179 Lambeck, A.J., 210 Langereis, M., 254 Language acquisition, 5 Language and language development, 327, 329–349 bilingualism, 340 books and other literacy items, 338–339, 339 cognitive skills and, 339–340 comprehension, 341–342 factors affecting, 335–340 hearing loss and, 44–45, 336–337 infants, 363, 364 language production, 342–344, 343 –344 language skills, 341–347 language stimulation, 338–339 parent-child interactions, 340 pragmatic functions, 344–345, 345 –346 signing, 23, 83, 329–330, 331, 335 social interactions and, 346–347 standardized language tests, 393 symbolization ability, 355, 356, 357–358 tactile language, 83 tracheostomy and, 333, 337–338 vision and, 335, 336 walking and, 335–336, 395 See also Communication; Communication systems; Literacy; Prelinguistic communication; Speech Larsen, F.A., 343, 344 Laryngeal obstruction, 127, 128, 129–130, 131 Laryngomalacia, 129, 131

Plural_Hartshorne_Index.indd 517

Laryngoscopy, 129 Laryngotracheoesophageal (LTE) cleft, 131 Laryngotracheomalacia, 228 Lasserre, E., 254–255, 256 Legal blindness, 21 Legendre, M., 253 Lens (of the eye), 16, 16, 17 LGMD. See Limb-girdle muscular dystrophy LH. See Luteinizing hormone Life skills, 245–246, 348 adolescents, 311–313, 311, 313 executive functioning, 264, 420 self-care, 311 Light therapy, 137 Light touch, 79 Limb abnormalities, 218, 219, 222–224, 222, 223 See also Musculoskeletal abnormalities Limb-girdle muscular dystrophy (LGMD), 224 Literacy, 306, 347–348 Locomotor skills, 272–273 Loncke, F., 366 Low blood sugar, dumping syndrome, 149 Low vision aids, 28–30, 29 LTE cleft. See Laryngotracheoesophageal (LTE) cleft Luckner, J.L., 361, 369 Luteinizing hormone (LH), 204 Lymphopenia, 243

M MacArthur-Bates Communicative Development Inventories, 367 Macdonald, M., 241 Macroglossia, 147 Madhavan-Brown, S., 235, 420, 471 Magnetic plate BCD, 51–52 Males delayed pubertal development, 188 genital issues, xiv, 98, 187, 188, 188, 190, 200, 205, 206 growth in, 199, 201

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518     CHARGE SYNDROME Males (continued) hormonal issues, 99 micropenis, 98, 188, 206–207 osteoporosis in, 226 sense of smell, 58 treatment of delayed or absent puberty, 205 undescended testes, 98, 188, 192, 204, 205, 206, 207 Malleus, 104, 113, 114 Mann, A., 394 Manual signs, 83, 236, 329–330, 331, 337, 338 Marques-Portella, C., 452 Martin, D.M., xiii, 156, 240, 242 Martini, A., 253 McDonald-McGinn, D.M., 243 McKinnon, A., 225 Mean type-token ratio (TTR), 344 Mechanoreceptors, 78 Medical care in adulthood, 234–235, 245 hearing, 235 for infants, 298 medical visits, 234–235 organizing medical information, 299 specialists consulted, 233, 298, 300 transition from pediatrics to adult health care, 234, 245 Medical issues, 97–246 about, 97, 98 – 99 in adults, 231–246 airway issues, 98, 101 airway obstruction, 123–139 cardiovascular system, 98, 175–183, 232, 236 in childhood, 303–304 cognitive assessment and, 256 education and, 468 endocrine system, 99, 195–208 gastrointestinal dysfunction, 98, 143–155, 240–241, 241 health literacy, 235–236 immune system, 99, 209–214 in infants, 298, 299 musculoskeletal system, 99, 217–228 neurodevelopment, 98, 159–171 otologic issues, 98, 101–119

Plural_Hartshorne_Index.indd 518

renal and urinary systems, 98, 187–193 summary, 98 –99 survival rates, 231–232 See also Motor development Mehr, S., 209, 243 Melatonin, 137, 138, 286 Memory, 95 Men. See Males Mendlowicz, M.V., 452 Menstrual periods, 205 Mental health See Behavior; Psychiatric/ psychological issues Michel aplasia, 110 Microbiome, 149–150 Microcornea, 23, 24, 162, 236 Micrognathia, 127 Microlaryngoscopy, 134 Microphthalmia, 236 Micropenis, 98, 188, 206–207 Microphthalmia, 23–24, 25, 162 Microtia, 107, 111 Middle ear anatomy, 104–105 anomalies, xiii, 107–109, 108, 109, 113–114 auditory function, 33 chronic disease, 34, 46 effusion, 44 hearing aids and, 44 infection, 34 infections, 112–113 medical issues, 107–109, 108, 109 Migraines abdominal, 148–149, 150 headaches, 169–170 Minde, K., 287 Minor, L., 373 Mixed hearing loss, 36–37, 50, 114–115 Mobility, 30 education and, 472 language development and, 335–336 See also Motion; Motor development; Walking Modified barium swallow study, 132– 133, 135 Möller, C., 89 Mondini defect, 35, 110

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INDEX     519 Mood disorders, 159, 430, 432 Mood stabilizers, 430, 432 Moore, R.A., 177 Morales, D.L.S., 177 Moss, J., 427 Motion clumsiness, 93–94 crawling, 5, 90 vision and, 30 walking, 5, 65–66, 90, 93 Motor competence, 267–274 Motor development, 5, 65–66, 90, 93, 267–274 about, 267–268, 274 balance, 271 locomotor skills, 272–273 milestones, 70, 71, 268–269 motor competence, 267–273 object control skills, 272–273 physically active lifestyle, 267 Mouth mouth stuffing, 146, 151 oral cavity crowding, 145, 146–147 oral obstruction, 127 Mouth breathing, 238 Mouth overstuffing, 146, 151 Multicystic dysplastic kidney, 190 Muscle tone, 88–89, 217–218, 224–225, 225, 228 Musculoskeletal abnormalities about, 228 assessment, 226–227, 227 diagnosis, 218–219 feet, 218, 222, 223–224, 223 hands, 218, 222–223, 222–223, 228 hypertonia, 218 hypotonia, 118, 218, 224–225, 225, 228 limbs, 218, 219, 222–224, 222, 223, 228 management, 227–228 scoliosis, 219, 220, 220, 221, 222, 227, 228, 239, 240 shoulder, 219, 224, 225 spine, 219, 220, 224 vertebral, 218, 219 Musculoskeletal system, 99, 217–228 about, 227–228

Plural_Hartshorne_Index.indd 519

muscle tone, 217–218, 224 osteoporosis, 99, 202, 225–226, 228, 239–240 spasticity, 218 See also Musculoskeletal abnormalities Mutual attention, 81 Mylanus, E., 254

N Naive T cells, 213 Narrative memory strategy, 84 Nasal obstruction, 123–127 adenoid hypertrophy, 125 choanal atresia (CA), 123, 124–125, 124, 126, 131, 135, 145, 228, 232, 236–237 sinusitis, 125, 127 Nasogastric feeding tube, 135 Nasolacrimal duct obstruction, 26 National Joint Committee for the Communication Needs of Persons with Severe Disabilities (NJC), 354, 393 NCCPC-R. See Noncommunicating Children’s Pain Checklist Revised Neck anomalies, 219 Neck pain, 169–170, 170 Nelson, M., 177 Nervous system, neuroplasticity, 78, 118 Networking, 459–461, 460 Neural body maps, 80 Neural crest cells, 160 Neurodevelopment, 98, 159–161, 166–171, 167 Neuroplasticity, 78, 118 “New Parent Packet,” 459 Newborn feeding. See Infant feeding Nicholas, J., 264, 420 Nichols, S.L., 427 Niederriter, A.N., 156 Night terrors, 168 Nishina, S., 24–25, 36 NJC. See National Joint Committee for the Communication Needs of Persons with Severe Disabilities NK cells, 210

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520     CHARGE SYNDROME Nociceptors, 78 Noncommunicating Children’s Pain Checklist Revised (NCCPC-R), 442 Nonsurgical bone conduction devices, 50–51 Nonvocal pain measurements, 148, 169, 243–244, 443 Nursing services, in schools, 467 Nystagmus, 26, 67

O OAEs. See Otoacoustic emissions Object control skills, 272–273 Object cues, 372–373, 376, 394–395 Observed touch, 80 Obsessive-compulsive disorder, 244, 427, 432 Obstructive sleep apnea (OSA), 136– 137, 151, 152, 236, 243 Ocular tracking, testing, 73 Oculomotor nerve (CN III), 161, 162 Olfactory nerve (CN I), 57, 145, 146, 160, 161, 162 Olfactory receptor neurons, 57–58 Olfactory system, 3, 4, 57–62 See also Smell Oliver, C., 427 Omenn-like phenotype, 212, 213 Ophthalmic trauma, 23 Opioid antagonists, 432 Oppewal, A., 245 Optic nerve (CN II), 18–23, 19, 21, 24–25, 26, 161, 162 Oral cavity crowding, 145, 146–147 Oral obstruction, 127 Orofacial cleft, as diagnostic characteristic, xiv OSA. See Obstructive sleep apnea Ossicles, 104, 107, 108, 109 Ossicular anomalies, 34, 113–114 Ossicular conductive hearing losses, 48–49, 48 Ossicular dysfunction, 34 Ossicular repair or reconstruction, 34 Osteoporosis, 99, 202, 225–226, 228, 239–240

Plural_Hartshorne_Index.indd 520

Otitis externa, 107, 112 Otitis media, 104–105, 107–108, 210 Otoacoustic emissions (OAEs), 40–41 Otologic issues, 98, 101–119 Otoplasty, 111–112 Outer ear anomalies, xiii

P Packing food into cheeks, 146, 151, 241 Pagon, R.A., xii Pain, 439–462 abdominal pain, 148–149, 240 about, 159, 168–169, 243–244, 419 assessment, 148, 169, 243–244, 442–443, 485–486 behavior as expression of, 420, 421, 441–442 CHARGE Non-Vocal Pain Assessment, 148, 169, 243–244, 443 identifying, 440–443 interventions, 446 multisensory impairment and, 441 neck pain, 169–170, 170 nociceptors, 78 research, 445–446 self-reporting, 439, 442, 445 sleep problems and, 287 sources of, 443–445 Palmar crease, xiv, 222, 222, 228 Parents communication in parenting, 461 disciplining, 461–462 family needs, 458–459 guilt of, 456 networking, 459–461, 460 “New Parent Packet,” 459 parent-child interactions for language development, 340 parenting, 455–463 post-traumatic stress disorder (PTSD), 450–451 respite services for, 300 shared decision-making, 431 stress, 449–450, 451–453 support for, 459–461, 460, 462– 463 Parker, A.T., 369 Parker, K.R., 263, 302, 417

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INDEX     521 Parotid ducts, ligation of, 135 Partial ossicular reconstruction prosthesis (PORP), 114 Partial thymic aplasia, 211 Partial thymic hypoplasia, 211–212 PE tubes. See Ventilation tubes Pedersen, A.L., 457 Pediatric Pain Profile (PPP), 442 Peltokorpi, S., 360, 395–396 Pelvic kidney, 190 Periodontal disease, 238 Peripheral facial nerve palsy, 24–25, 26, 146, 164, 164 Persistence, 415 Person-Centered Planning techniques (MAPS), 258 Phalangeal hypoplasia, 218 Pharyngeal obstruction, 127 Physical activity, 267 Pinna, 33–34, 44 Pituitary gland, 59 Pituitary hormones, 204 Pituitary stalk abnormalities, 239 Play, 306–307 Pleasant touch, 79 Pointing gestures, 363 PORP. See Partial ossicular reconstruction prosthesis Post and abutment, 51 Post-traumatic stress disorder (PTSD), 450–451 Postural orthostatic tachycardia syndrome (POTS), 98, 180 Posture about, 65–68, 90, 91–94, 92, 118, 218 chin-up position, 25 hanging upside down, 20, 92, 118, 119, 421–422, 422 head position, 25, 218 postural control, 89 propping head, 92 in school, 469, 469 vestibular system, 65–68, 90, 91–94, 92 walking, 90–91 PPIs. See Proton pump inhibitors PPP. See Pediatric Pain Profile Prasad, C., 219, 226, 231–232 Preintentional communication, 391

Plural_Hartshorne_Index.indd 521

Prelinguistic communication, 353–386 assessing skills, 354–355, 356, 357– 358, 359, 360–367, 364 augmented input dictionary, 373 communication dictionary, 334 communication rate, 360–362 communication skills, 341 gestures, 334, 362–364, 364 increasing opportunities for, 379–380, 381–382 intentionality skills, 358, 359, 360 interventions, 367–384 modifying communication environment, 380, 383–384, 385–386 object cues, 372–373, 376, 394–395 routines, 373, 376, 377–378 sensitivity of communication partners, 368–369, 370 –371 symbolization ability, 355, 356, 357–358 total communication (TC), 334–335 touch cues, 83, 372, 376, 394–395 Tri-Focus Framework, 367–384 wait time, 369 Presymbolic level, 355, 391, 401, 402, 403 Primary myopathy, 228 Progesterone, 205 Project Salute, 297, 373 Proprioception, 79, 79, 88–95, 422 See also Motion; Posture Proprioceptive stimulation, 82 Proprioreceptive receptors (proprioceptors), 79, 88 Proton pump inhibitors (PPIs), 240 Prouty, S., 338 Psychological/psychiatric issues, 425–437 about, 411, 425–426 in adolescents, 308–309 aggression, 244, 427, 432 anxiety, 287–290, 308, 309, 420–421, 421, 427, 432 attention deficit hyperactivity disorder (ADHD), 427, 429, 432 autistic-like behavior, 244, 263–264, 302, 303, 427 behavior, 24, 234, 244, 413–423 behavioral intervention, 429–431 depression, 309, 427, 432

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522     CHARGE SYNDROME Psychological/psychiatric issues (continued) diagnosis, 428–429 educational issues, 465–477 explosive behaviors, 432 impulsivity, 432 interventions, 429–431, 432, 433, 433 – 436 obsessive-compulsive disorder, 244, 427, 432 pain, 439–462 parenting, 455–463 psychotropic medications for, 244, 288, 428–431, 432, 433, 433 – 436 self-injury, 244, 427, 432 stress, 449–453 summary, 427, 428–429 See also Behavior; Sleep and sleep problems Psychotropic medications about, 429–431, 432–436, 433 for children, 244 medical management guidelines, 434–436, 436 side effects, 433 for sleep problems, 288, 432 summary, 432 Ptosis, 25–26 PTSD. See Post-traumatic stress disorder Puberty about, 239 delayed pubertal development, 188, 189, 199–201, 203, 204–206 treatment of delayed or absent puberty, 205–206 Pulmonary hypertension, 236, 243 Pure tone thresholds, 38 Pyloric sphincter, 149

Q Quality of life, 308 Quinn, B.L., 442

R Raqbi, F., 254 Reading, 306, 338–339, 339, 348

Plural_Hartshorne_Index.indd 522

RECD values, 43 Receptive communication, 372–373, 374 –375 Reciprocity, 81 Reda, N.M., 262, 340 Refraction, 27–28, 236 Rehearsal strategy, 84 Remote microphone systems, 43 Renal anomalies, 189–190, 189–190 diagnosis, 190–191 as diagnostic characteristic, xiv, 98 toilet training and, 280 vesicoureteric reflux, 98, 188, 190, 192 Renal system, 187–193, 237–238 about, 98, 192–193 anatomy, 188 interventions, 191–192 Repetitive behaviors, 417 Representational gestures, 362–363 Resources Camp Abilities website, 272 Heathy Bodies Toolkit, 239 physical activity for children with vision loss, 273 Respiratory problems airway obstruction, 123–139 aspiration, 130–135, 132–134, 242 audiometric testing and, 39 nasal obstruction, 123–127 Respiratory syncytial virus (RSV), 182 Retina coloboma, 18–23, 19, 21 embryology, 16 retinal tears, 19, 20, 22, 22 Retrognathia, 127 Richards, C., 427 Riksen-Walraven, J.M., 368 Rodriguez-Gil, G., 373 Rolling, 90 Rotatory tests, 73 Routines in family life, 461 prelinguistic communication, 373, 376, 377–378 Rowland, C., 361 Rowland Communication Matrix, 343 RSV. See Respiratory syncytial virus

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INDEX     523 Ruijssenaars, W.A., 369 Russ, J.M., 264, 391, 420

S Saccades, 68–69 Saccule, 34, 35, 73, 105, 106, 107 Sacculus, 68 Salem-Hartshorne, N., 201, 254, 257, 278, 301, 306, 310, 311, 427 Saliva Control in Children, 168 Salivary glands facial nerve and, 131, 146 ligating salivary ducts, 135 sialorrhea (drooling), 131, 135, 148, 153, 164, 168 Samadi, D.S., 236–237 Sandifer syndrome, 168 Sanlaville, D., xii Scaffolding, 81 Schafer, A., 461, 462 Schmittel, M.C., 235, 420, 471 Schölvinck, E.H., 210 School-based services, 304–306, 305, 357 Schuengel, C., 369 SCID. See Severe combined immunodeficiency Scoliosis, 219, 220, 220, 221, 222, 227, 228, 239, 240 Scopolamine, 135 SDSC. See Sleep Disturbance Scale for Children Searle, L.C., 226 Seizures, 168 Self-care, 311 Self-injury, 244, 427, 432 Self-regulation, 95, 170–171, 244, 261, 264–265, 418–419, 421, 421 Self-reporting of pain, 439, 442, 445 Self-stimulatory behaviors, 244, 417, 418 Semicircular canals, 34, 35, 35, 67, 105, 106, 111, 165 Sensation seeking, 417, 419 Sense of humor, 415, 416 Sensorineural hearing loss (SNHL) about, 35, 36, 111, 114 cranial nerve anomalies, 146 management of, 115–117

Plural_Hartshorne_Index.indd 523

Sensory defensiveness, 297 “Sensory diet,” 82 Sensory integration, cognitive assessment and, 256 Sensory issues, 3–95 about, 1, 3–6, 33, 87–88, 296–297, 420, 421 deafblindness, 1, 3, 4, 4–5, 74 education and, 467 eye and vision, 3–7, 15–30 hearing, 33–55 olfactory system (smell), 3, 4, 57–62, 146, 296 proprioception, 79, 88–95, 422 tactile system, 77–85, 296–297 taste and flavor, 296 touch, 296–297 vestibular system (balance), 3, 65–74, 87, 89–90, 95 Sensory stimulation interventions, 81–82, 82, 419 Sensory system. See Sensory issues; Somatosensory system Septal defects, 176 Serotonin-reuptake inhibitors (SSRIs), 244, 432, 433 Severe combined immunodeficiency (SCID), 209, 211, 242 Sexuality, 239 Shah, U.K., 236–237 Shifting attention, 419–420 Short-term memory, 95 Shoulder abnormalities, 219, 224, 225 Sialorrhea (drooling), 131, 135, 153, 164, 168 Sidewinding, 90 Siegel-Causey, E., 367 Signing, 83, 236, 335, 392 American Sign Language (ASL), 333 “hand-under-hand” signing, 83, 330, 394–395 manual signs, 329–330, 331, 337, 338 Simeonsson, R.J., 458 Sinusitis, 125, 127 SIS. See Supports Intensity Scale Skeletal anomalies, 218, 219 See also Musculoskeletal abnormalities

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524     CHARGE SYNDROME Skin, mechanoreceptors, 78 Slate, E., 346 Slavin, L.J., 466, 467 Sleep and sleep problems, 285–290 about, 136–139, 243, 285–286, 290, 308 anxiety and, 287–290, 432 bedtime, 289 behavior and, 426 chronic pain and, 287 circadian rhythm disorders, 137, 286 evaluation and treatment, 137–138 insomnia, 138 interventions, 138–139, 288–290, 289 melatonin and, 137, 138, 286 night terrors, 168 obstructive sleep apnea (OSA), 136–137, 151, 152, 236, 243 predisposition to, 286–288 psychotropic medications used for, 288, 432 sleep apnea, 136–137 sleep hygiene, 288–289 Sleep apnea, 136–137 Sleep diary, 138 Sleep Disturbance Scale for Children (SDSC), 136 Sleep hygiene, 288–289 Sleep maintenance insomnia, 138 Sleep-onset insomnia, 138 Sleep-wake rhythm disorders, 137 Smell, 57–62 about, 3, 4, 296 anosmia, 59–61, 162 assessment, 160 detection threshold, 59 development and physiology of, 58–59 olfaction deficiency, 59–62 olfactory nerve, 57, 145, 146, 160, 161, 162 toilet training and, 280 See also Olfactory system Smith, I.M., 219, 231–232, 427, 469 Smith, K.G., 469 Smooth pursuit, 68–69 SNHL. See Sensorineural hearing loss Snik, A., 254

Plural_Hartshorne_Index.indd 524

Snoring, sleep apnea and, 136–137 Social/emotional development, 261–265 attachment, 261, 262–263 Circle of Friends, 310, 472 social skills, 261, 263–264 socially appropriate behavior, 4–5 See also Behavior; Behavioral issues Social/emotional developmental, selfregulation, 95, 170–171, 244, 261, 264–265, 418–419, 421, 421 Social interactions, language development and, 346–347 Social media, 314, 347, 348 Social play, 306–307 Social skills, 261, 263–264, 417 friendships, 306–307, 310, 310, 347, 417, 472 Social support networks, 459–461, 460 Softband, nonsurgical BCDs, 50 Somatosensory cortex, 79–80 Somatosensory system about, 77 balance and, 69 eye and vision, 3–7, 15–30 hearing, 33–55 olfactory system (smell), 3, 4, 57–62, 145, 146 proprioception, 79, 88–95, 422 tactile system, 77–85 trigeminal nerve, 145, 146, 162–163, 163, 167, 168, 169 vestibular system, 3, 65–74, 89–90, 95 See also Sensory issues Souriau, J., 427 Spasticity, 218 Special education, eligibility criteria, 465, 466 Speech audiometry, 38–39 Speech-generating device (SGD), 333 Speech production, 333 cranial nerves and, 168 tongue and, 166 See also Language and Language development Spinal accessory nerve (CN XI), 161, 166

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INDEX     525 Spine abnormalities, 219, 220, 224 See also Scoliosis SSPs. See Support Service Providers SSRIs. See Serotonin-reuptake inhibitors Stability ball, 272 Standing, 92, 271–272 Stapedectomy, 114 Stapes, 104, 113, 114 Stelzer, S., 347 Stimulants, 430, 432, 433 Stimulus control, 286, 289, 289 Stirrup (bone), 104 Strabismus, 27 Stratton, K.K., 235, 243, 334, 420, 440–441, 443, 444, 445, 451, 471 Stress, 449–453 Strömland, K., 219 Stronach, S., 346 Structured assessment tools, 367, 428 Structured probes, 367 Submandibular salivary glands, excision of, 135 Sucking, cranial nerve deficits, 131, 167–168 Sullivan, K.E., 243 Superior vestibular nerve, 105 Superior visual field defect, 20 Support networks, 459–461, 460 Support Service Providers (SSPs), 236 Supports Intensity Scale (SIS), 258, 308 Supraglottic obstruction, 127–130 Supraglottoplasty, 129 Surgery anesthesia risks in CHARGE patients, 117, 127, 130, 154, 181–182, 228 congenital heart defects and, 180–181 postoperative management, 182–183 Surgical bone conduction options, 51–52 Swallow prompt, 151, 153 Swallowing dysfunction about, 143, 144, 150, 198, 242 aspiration, 130–135, 132–134, 242 behavioral interventions, 151, 153 cranial nerve deficits, 131, 145, 146

Plural_Hartshorne_Index.indd 525

cranial nerves and, 167–168 evaluation, 132–134, 133, 134 modified swallowing technique, 135 tongue and, 166 See also Feeding and feeding difficulties Swanson, L.A., 334, 392 Swimmer’s ear, 107 Symbolic communication, 391, 405, 406, 407 Symbolic language, 340 Symbolization ability, 355, 356, 357–358

T T-cell deficiency, 212 T cells, 210, 211 Tactile-based communication, 83 Tactile cognitive strategies, 83–84 Tactile defensiveness, 39, 82, 244 Tactile language, 83 Tactile sensitivity, 418, 418 Tactile signing, 83 Tactile spatial rehearsal strategy, 84 Tactile system, 77–85 interrelated functions of, 78–80 interventions promoting tactile experiences, 80–84 neuroplasticity, 78 tactile-based communication and language, 83 tactile cognitive strategies, 83–84 tactile perceptual strategies, 82, 82 See also Touch Tactual signing, 330 Tadoma method, 333 Tait Video Analysis, 396 Tarsorrhaphy, 25 Taste, 62, 163, 296 Taylor, M., 177 TC. See Total communication Teacher Drooling Scale, 168 TECEL. See Test for Early Communication and Emerging Language Teeth, dental care, 238 TEF. See Tracheoesophageal fistula Tegtmeyer, K., 177 Temperature receptors, 78

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526     CHARGE SYNDROME TEOAEs. See Transient-evoked otoacoustic emissions Test for Early Communication and Emerging Language (TECEL), 367 Test of Gross Motor Development 3 (TGMD–3), 269 Testing. See Assessment Testosterone, 99, 204, 205 Tetralogy of Fallot, 176 TGMD–3. See Test of Gross Motor Development 3 Thal, D., 362 Thelin, J.W., 45, 70, 334, 335, 337, 392, 427 Thermoreceptors, 78 Thymic aplasia, 211, 212 Thymic hypoplasia, 211–212 Thymic transplantation, 213 Thymus, 210, 211–212 Thyroid gland, 202, 207 Tics, 427, 432 Tilt-table testing, 180 Tilted misalignment, 27 Tiptoe barefoot walking, 93 Toilet training, 192, 277, 277–283 flowchart, 279 procedure for an accident, 281, 282 resistance to, 282 Tongue macroglossia, 147 movement in CS, 166 Tonsils, hypertrophy of, 131 Torsional misalignment, 27 Total communication (TC), 334–335 Total ossicular reconstruction prosthesis (TORP), 114 Touch, 296–297 sense of touch, 79, 79 supporting early social interaction using touch, 80–81 See also Tactile system Touch cues, 83, 372, 376, 394–395 Trachea stenosis, 242–243 Tracheoesophageal fistula (TEF), xiv, 131–132, 132, 135, 145, 147 Tracheostomies, speech and, 333, 337–338 Tragus, 103

Plural_Hartshorne_Index.indd 526

Transcutaneous post and abutment, 51 Transient-evoked otoacoustic emissions (TEOAEs), 40 Transnasal flexible laryngoscopy, 129 Trauma, ophthalmic, 23 Trevisi, P., 253 Tri-Focus Framework, 367–384 Trider, C.L., 136, 219, 220, 224, 232, 234, 467 Trief, E., 395 Trigeminal nerve (CN V), 145, 146, 161, 162–163, 163, 167, 168, 169 Trigeminal sensitivity, 62 Trigeminocervical complex, 169 Triggers, for behavioral issues, 433 Trivette, C.M., 459 Trochlear nerve (CN IV), 161, 162 TTR. See Type-token ratio Tube feeding, 147, 147, 148 Turn-taking, 81 Tympanic membrane, 102, 102, 104 Tympanosclerosis, 109 Tympanostomy tubes, 34, 105, 112–113, 210 Type-token ratio (TTR), 344

U Undescended testes, 98, 188, 192, 204, 205, 206, 207 Unilateral choanal atresia, 124, 127 Unilateral facial palsy, 164, 309 Upside down position. See Head upside down posture Ureter, 188 Urinary system, 98, 187–193 abnormalities, 189–190, 189–190 about, 192–193 anatomy, 188 assessment, 190–191 complications, 192 diagnosing abnormalities, 190–191 function, 187–188 genitalia, xiv, 98, 187, 188–190, 188 –190 interventions, 191–192 vesicoureteric reflux, 98, 188, 190, 192 Urinary tract infections (UTIs), 191–192

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INDEX     527 Urine, 188 Utricle, 34, 35, 73, 105, 106, 107 Utriculus, 68

V Vagus nerve (CN X), 131, 145, 146, 148, 161, 166, 168 Vaivre-Douret, L., 254–255 Valsalva maneuver, 104 Van de Laar, I., 223, 224 van Dijk, J.P., 244, 368, 427 van Ravenswaaij-Arts, C., xiii, 210, 219, 232, 254, 467 VCUG. See Voiding cystourethrogram Velopharyngeal incoordination, 148 VEMP. See Vestibular-evoked myogenic potentials Ventilation tubes (PE tubes; grommets), 34, 105, 112–113, 210 Verloes, A., xii Vertebral anomalies, 219 Vesicoureteric reflux, 98, 188, 190, 192 Vesseur, A., 254 Vestibular dysfunction about, 30, 87–88, 89, 118, 303–304 cognitive assessment, 255–256 cranial nerve anomalies, 146, 165 education and, 468 Vestibular-evoked myogenic potentials (VEMP), 73 Vestibular portion (ear), 105–106, 106 Vestibular system, 65–74 about, 3, 65–68, 80–90, 95 anomalies, 111 assessment of vestibular function, 70, 71–72, 72–74 cerebellum, 67–70 dysfunction, 30, 87–88, 89, 118 lab tests of vestibular function, 72–74 memory and, 95 self-regulation and, 95, 170–171 somatosensory system, 69 visual system, 68–69 See also Balance; Vestibular dysfunction Vestibulo-ocular reflex (VOR), 34, 67, 68, 72, 73, 89, 256

Plural_Hartshorne_Index.indd 527

Vestibulocochlear nerve (CN VIII), 161, 165, 168 Vestibulocochlear organs, 34, 35 Video Head Impulse Test (VHIT), 72 Video-oculography, 72 Videofluoroscopic swallowing study (VSS), 132–133, 133 Videonystagmography (VNG), 72 Vision, 68–69 about, 30, 162 in adults, 236 aging and, 236 balance and mobility and, 30, 67–69 blindness, 20 changes in vision as medical emergency, 23 chorioretinal colobomas and, 20–21, 162 cognitive assessment and, 255 cortical visual impairment (CVD), 28 deafblindness, 1, 3, 4, 4–5 deprivation amblyopia, 25 eye examination, 27–28 functional vision, 20–21 language development and, 335, 336 low vision aids, 28–30, 29 melatonin and, 286 nystagmus, 26, 67 optimizing functional vision, 28–30, 29 refraction, 27–28, 236 saccades, 68–69 strabismus, 27 visual acuity, 27 visual tracking, 69, 73 See also Eyes Vissers, L.E., xii Visual acuity, 27 Visual field defects, 20 Visual symbols, 330, 332, 335 Visual tracking, 69, 73 Vitamin D insufficiency, 240 VNG. See Videonystagmography Vocalizations, 334 Voice output communication aids (VOCAS), 332–333, 335 Voiding cystourethrogram (VCUG), 190–191

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528     CHARGE SYNDROME Vomeronasal nerve, 57 VOR. See Vestibulo-ocular reflex VSS. See Videofluoroscopic swallowing study

W Wachtel, L.E., 288, 427, 429 Waldron, D., 225 Walking age of, 5, 303 delayed milestone, 65–66, 90, 303–304 foot stomping, 93 gait, 90 independent walking, 90 language development and, 335–336, 395

Plural_Hartshorne_Index.indd 528

limitations in, 245 tiptoe barefoot style, 93 Walking aids, 90 Weight, 241 Wetherby, A.M., 346 Why I AM Me: All About CHARGE Syndrome (book), 472 Women. See Females Wong, M.T., 210 Word recognition testing, 39 Wulffaert, J., 262, 452

Z Zackai, E.H., 243 Zatta, M.C., 347 Zebrafish CS model, 146, 148, 149

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