Noninvasive Mechanical Ventilation and Neuropsychiatric Disorders: Essential Practical Approaches 3031279670, 9783031279676

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Noninvasive Mechanical Ventilation and Neuropsychiatric Disorders Essential Practical Approaches Antonio M. Esquinas Editor-in-Chief Andrea Fabbo Filiz Koc Agnieszka Prymus Małgorzata Farnik Editors

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Noninvasive Mechanical Ventilation and Neuropsychiatric Disorders

Antonio M. Esquinas  •  Andrea Fabbo Filiz Koc  •  Agnieszka Prymus  Małgorzata Farnik Editors

Noninvasive Mechanical Ventilation and Neuropsychiatric Disorders Essential Practical Approaches

Editors Antonio M. Esquinas Intensive Care Unit Hospital General Universitario Morales Meseguer Murcia, Murcia, Spain Filiz Koc Department of Psychiatry and Neurology Cukurova University Adana, Türkiye

Andrea Fabbo Cognitive Disorders and Dementia Unit University of Modena and Reggio Emilia Modena, Italy Agnieszka Prymus Psychoneuroimmunology and Psychopharmacology Medical University of Silesia Katowice, Poland

Małgorzata Farnik Department of Pneumonology Medical University of Silesia Katowice, Poland

ISBN 978-3-031-27967-6    ISBN 978-3-031-27968-3 (eBook) https://doi.org/10.1007/978-3-031-27968-3 © The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Switzerland AG 2023 This work is subject to copyright. All rights are solely and exclusively licensed by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. The publisher, the authors, and the editors are safe to assume that the advice and information in this book are believed to be true and accurate at the date of publication. Neither the publisher nor the authors or the editors give a warranty, expressed or implied, with respect to the material contained herein or for any errors or omissions that may have been made. The publisher remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. This Springer imprint is published by the registered company Springer Nature Switzerland AG The registered company address is: Gewerbestrasse 11, 6330 Cham, Switzerland

Contents

Part I Neuropsychiatric and Lung Physiology 1

Case Report: Delirium Permanence During Resolution Phase of Massive Pneumonia in Patient with COPD Exacerbation��������������������������������������������������������������������������   3 Corrado Mollica, Enrico Maialetti, Francesco Alessandri, and Daniela Sollazzo

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Patterns of Psychology Responses in Acute and Chronic Respiratory Failure��������������������������������������������������������������������  19 Marilena De Guglielmo and Giuseppina Fabbo

3

Epidemiology of Neuropsychiatric Disorders in Ventilator Management ������������������������������������������������������  31 Bahadır Demir

Part II Psychiatric Disorders in Respiratory Failure: Key Concepts 4

 Psychiatric Disorders and Respiratory Failure: Key Concept��������������  45 Dipasri Bhattacharya, Antonio M. Esquinas, and Mohanchandra Mandal

5

Concept of “Vulnerable to Stress” Critical Illness-Psychological Stress and Susceptibility in Noninvasive Ventilator Support�����������������������������������  59 Şengül Kocamer Şahin

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Evaluation of Susceptibility to Psychological Stress and Psychopathology in Non-invasive Ventilatory Support ����������������������������������������������������������������������������������  73 Alessandro Colucci-D’Amato, Anna Annunziata, and Giuseppe Fiorentino

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Contents

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Part III Acute Psychiatric Disorders That May Develop During Noninvasive Ventilator Support: Acute and Chronic Condition 7

Measurements and Scores: Hospital Anxiety and Depression Scale (HADS)��������������������������������������������������������������������������  83 Małgorzata Farnik

8

Anxiety: Hiperventilation Syndrome ������������������������������������������������������  89 Tânia Filipa Carneiro Teixeira

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Depression and Noninvasive Ventilation��������������������������������������������������  93 João Quarenta, Sofia Neves Martins, Tânia Teixeira, and Sérgio do Nascimento Ferreira

10 Post-traumatic Stress Disorder���������������������������������������������������������������� 101 Sofia Neves Martins, Tânia Teixeira, João Quarenta, and Bruno Ribeiro 11 Delirium������������������������������������������������������������������������������������������������������ 107 Angela Mancini and Andrea Fabbo Part IV Diagnosis of Psychiatric Disorders in Respiratory Failure: Non-invasive Ventilator Support 12 Risk  Factors for Prolonged Psychiatric Morbidity During Noninvasive Ventilator Support�������������������������������������������������� 129 Soner Çakmak Part V Noninvasive Ventilation: Acute Respiratory Failure 13 Psychopathological  Problems in Chronic Obstructive Pulmonary Disease (C.O.P.D.): An Holistic “Mind-Body” Comprehension������������������������������������������������������������������������������������������ 145 Giacomo Gatti, Mario Giordano, and Corrado Mollica 14 Noninvasive Ventilation in Asthma ���������������������������������������������������������� 161 Pelin Pınar Deniz 15 Neuromuscular Disorders ������������������������������������������������������������������������ 167 Dušanka Obradović 16 Acute  Respiratory Failure in Pneumonia������������������������������������������������ 173 Ozlem Ozkan Kuscu and Ferit Kuscu 17 Acute Neurological Disorders ������������������������������������������������������������������ 179 Turgay Demir and Filiz Koc 18 Noninvasive  Ventilation in a Pandemic, Bioterrorism, High-Risk Infections���������������������������������������������������������� 187 Nicola Vargas, Loredana Tibullo, and Andrea Fabbo

Contents

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19 L  ong-Term Ventilator-Dependent Patients: Noninvasive Ventilation ���������������������������������������������������������������������������� 191 Murat Erdoğan, İrem Okuducu Teran, and Dilek Özcengiz Part VI Noninvasive Ventilation: Chronic Respiratory Failure 20 Sleep-Related Breathing Disorders���������������������������������������������������������� 199 Alberto Castagna, Paola Elisa Scarpino, Ciro Manzo, and Giovanni Ruotolo 21 Psychotic  Disorders and NIV�������������������������������������������������������������������� 205 Francesca Neviani and Andrea Fabbo 22 Neurodegenerative Disorders/Dementia�������������������������������������������������� 215 Barbara Manni, Lucia Bergamini, and Marina Turci 23 Chronic Neurological Disorders �������������������������������������������������������������� 227 Angela Mancini and Andrea Fabbo Part VII Outcome, Quality of Life, Palliative Care 24 Risk  Factors for Prolonged Psychiatric Morbidity During Noninvasive Ventilator Support�������������������������������������������������� 249 Soner Çakmak 25 Neurology  and Psychiatric Sequelae of Intensive Care: Impact on Quality of Life���������������������������������������������� 263 Rafael Soler, Orestes Herrera, and Antonio M. Esquinas 26 Neurology  and Psychiatric Disorders: Long-Term Implications for the Healthcare System�������������������������������������������������� 275 Angela Mancini, Antonella Pellitta, and Andrea Fabbo 27 Neurocognitive  and Emotional Morbidity and Quality of Life�������������������������������������������������������������������������������������������� 291 Valentina Reda 28 Psychological,  Social, and Economic Impacts ���������������������������������������� 299 Annalisa Baglieri and Valentina Reda 29 Neurology  and Psychiatric Cognitive Recovery�������������������������������������� 313 Chiara Galli 30 Non Invasive Ventilation���������������������������������������������������������������������������� 319 Nicola Vargas, Loredana Tibullo, Angela Pagano, and Andrea Fabbo 31 Neuropsychiatric  Disorders in Pulmonary Rehabilitation�������������������� 329 Sulochana Kumari, Kishore Kumar, and Meenakshi Narasimhan

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Part VIII Treatment: Interventions and Prevention 32 P  hysical Activity/Emotional Response in Non-invasive Ventilator Users ������������������������������������������������������������������ 339 Giuseppe Attisani, Alessandra Pascale, Nazario Maria Manzo, and Alberto Castagna 33 New  Technologies (Tele-Health and Other Trends) Directed in Neurology and Psychiatric Disorders in Home Care���������������������������������������������������������������������������� 345 Angela Mancini and Andrea Fabbo 34 Prevention  Tools for Neurology and Psychiatric Disorders in Noninvasive Ventilation (Delirium Prevention/Management Sleep Promotion)�������������������������������������������� 367 Federica Boschi, Barbara Manni, and Andrea Fabbo Part IX Further Research 35 The  Role of Neurocognitive Disorders in Sustaining “Ageism as a Key Factor for Noninvasive Ventilation Failure”������������ 385 Vincenza Frisardi and Maria Luisa Davoli 36 Neuropsychiatric Disorders During Non-­Invasive Ventilation�������������� 403 Alberto Castagna, Giuseppina Fabbo, and Carmen Ruberto

Abbreviations

[ΔP(A-a)] Alveolar-arterial gradient ABB Acid-base balance AD Alzheimer disease AECOPD Acute exacerbation of chronic obstructive pulmonary disease AG Anion gap AHCD Advanced Health Care Directives ALS Amyotrophic lateral sclerosis AOC Acute-on-chronic respiratory failure APA American Psychiatric Association APACHE Acute Physiology AND Chronic Health Evaluation ARDS Acute respiratory distress syndrome ARF Acute respiratory failure BBB Blood-brain barrier BDI Beck Depression Inventory BMI Body Mass Index CAP Community acquired pneumonia CBT Cognitive-behavioral therapy-based approach CCHS Congenital central hypoventilation syndrome CCQ Clinical C.O.P.D. Questionnaire CO2 Carbon dioxide COPD Chronic obstructive pulmonary disease CPAP Continuous positive airway pressure CPAP Continuous positive air pressure CPE Cardiogenic pulmonary edema CRF Chronic respiratory failure CT Computed tomography CURB-65 Criteria score DMC Decision-making capacity DMD Duchenne muscular dystrophy DNI Do not intubate order DSM Diagnostic and statistical manual of mental disorders DTI Diffusion tensor imaging EEG Electro-encephalogram FEV1 Forced expiratory volume in one second ix

x

FVC Forced vital capacity GABA Gamma-aminobutyric acid GCSs Glasgow Coma Scale score GRK2 G-protein-coupled receptor kinase 2 HADS Hospital Anxiety and Depression scale score HCPs Healthcare professionals HDRCU High Dependence Respiratory Care Unit HSCL-25 Hopkins Symptom Checklist ICP Individual care plan ICU Intensive care unit LC Locus coeruleus LRTI Lower respiratory tract infections LTE Limitation of therapeutic effort MAO Monoamine oxidase MAOIs Monoamine oxidase inhibitors MCI Mild cognitive impairment MDD Major depressive disorder MND Motor neuron disease MND Motoneuron disease MV Mechanical ventilation NET Norepinephrine transporter NIMV Noninvasive mechanical ventilation NIPPV Noninvasive positive pressure ventilation NIV Noninvasive mechanical ventilation NIV Noninvasive ventilation NMDs Neuromuscular diseases OSA Obstructive sleep apnea OSAS Obstructive sleep apnea syndrome paCO2 Partial pressure of carbon dioxide PACO2 Alveolar carbon dioxide pressure PaCO2 Arterial carbon dioxide pressure PACO2 Carbon dioxide alveolar pressure PaCO2 Carbon dioxide arterial pressure paO2 Partial pressure of oxygen PaO2 Oxygen arterial pressure PAO2 Alveolar oxygen pressure PAO2 Arterial oxygen pressure PAO2 Oxygen alveolar pressure PEEP Positive end-expiratory pressure PSI Pneumonia Severity Index PSV Pressure support ventilation pts Patients PTSD Posttraumatic stress disorders RF Respiratory failure RHDCU Respiratory High Dependency Care Unit

Abbreviations

Abbreviations

RMU SAE SCAP Serotonin SERT SMA SSRIs TCAs V/Q mismatch VBM

xi

Respiratory monitoring unit Sepsis-associated encephalopathy Severity Commune-Acquired Pneumonia score 5-HT2C receptors Serotonin transporter Spinal muscular atrophy Selective serotonin reuptake inhibitors Tricyclic antidepressants Ventilation-perfusion imbalance Voxel-based morphometry

Part I Neuropsychiatric and Lung Physiology

1

Case Report: Delirium Permanence During Resolution Phase of Massive Pneumonia in Patient with COPD Exacerbation Corrado Mollica, Enrico Maialetti, Francesco Alessandri, and Daniela Sollazzo

1.1 Clinical Case At the time of admission into the hospital, a 52-year-old patient presented drowsiness, a confusional state with spatial-temporal disorientation, ideomotor apraxia, and confabulation. The patient reported an accidental fall that occurred 36 h earlier, during an episode of atrial flutter at frequency 300/m′ and conduction 2:1, with loss of consciousness followed by drowsiness, retrograde amnesia, and temporospatial disorientation. The patient was treated, for about 10 years, with oral hypoglycaemic drugs for type 2-diabetes mellitus, resulting once in keto-acidemic coma. Objective examination on admission: cyanosis, hyperpyrexia (38.7  °C), HR: 104/m′, RR: 24/m′, AP: 150/90, isochoria, isocyclia, and pupillary normoreflexia; superficial and deep reflexes intact and Babinski negative. ESR I^h: 60, Leukocytosis (11,500 × 103/μL) neutrophilic (84.8%), Glycemia: 248 mg/dL, Urea (BUN level: 6.5 mmol/L (nv: 3.6–7.1); Ketonuria ++, ALT: 94 U/L, AST: 77 U/L, LDH: 654 mU/ mL (nv: 80–300), CPK: 147 U/L (nv: 60–190). Acid–base balance (ABB) (arterial sample) (FiO2: 21%): PaO2: 38 mmHg, PaCO2: 66 mmHg, pH: 7.32, SaO2: 68%, O2ct: l7.5, HCO3−: 33 mEq/L, PaO2/FiO2 = 180, ΔP(A − a)O2: 29.23 mmHg (range: C. Mollica (*) Respiratory High Dependency Care Unit (STIRS), “Forlanini-S.Camillo” Hospital, Rome, Italy E. Maialetti Casa della Salute, Ostia, Rome, Italy F. Alessandri Department of Anaesthesiology, “Sapienza” University of Rome, Policlinico Umberto I, Rome, Italy e-mail: [email protected] D. Sollazzo Neuro-Pathophysiology Unit, “Forlanini-S.Camillo” Hospital, Rome, Italy © The Author(s), under exclusive license to Springer Nature Switzerland AG 2023 A. M. Esquinas et al. (eds.), Noninvasive Mechanical Ventilation and Neuropsychiatric Disorders, https://doi.org/10.1007/978-3-031-27968-3_1

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5–20), Glasgow Coma Scale: 10 (Eye-opening: 3; Verbal response: 3; Motor response: 4); APACHE II score = 23 (Table 1.1). X-ray: right chest showed “morphologically irregular opacity in right subclavear region with subtotal opacification of the entire omolateral hemithorax” (Fig. 1.1). Fibrobronchoscopy: perviousness of the gill system with a small mucopurulent secretion. After laboratory analysis, Table 1.1  APACHE II, Pneumonia severity and risk delirium scores in a COPD patient with ARF Patient data APACHE II CRB-65 SCAP PSI/PORT T° 38.7 1 RR 24/m 0 HR 104/m 0 0 MPA 110 mmHg 2 0 WC 11,500 × 103/ 0 μL Glycemia 248 mg/dL BUN 6.5 mmol/L 0 AST 77 U/L ALT 94 U/L LDH 654 mU/mL CPK 147 U/L PaO2 38 mmHg 4 6 10 PaCO2 66 mmHg pH 7.32 2 30 SaO2 68% O2ct 17.5 HCO3− 33mEq/L 1 Ht 46% 1 FiO2 21% PaO2/FiO2 180 PaO2/PAO2 0.56 PAO2 67,23 mmHg ΔP(A−a)O2: 29.23 mmHg Age 52 2 0 G.C. score 10 5 C.O.P.D. 5 X-ray 5 Confusion 1 5 20 Na 142 K 3.5 Cl 92 Creatin 1.04 mg/ 0 dL TOTAL 23 1 16 60 Patient data Age 52

PRE-DELIRIC score 18

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Table 1.1 (continued) G.C. score 10 APACHE II score Administ. morphine Sedatives Urgent admission BUN 6.5 mmol/L Infection Admission category Met. acidosis (A.G. = 17) Total

No coma 1 0 0 YES 1 YES Medical YES 20%

APACHE II score: Acute Physiology AND Chroni Health Evaluation, CRB-65 score: confusion, uremia, respiratory frequency, low blood pressure, age 65 years, SCAP score: Severity CommuneAcquired Pneumonia, PSI/PORT score: Pneumonia Severity Index, PRE-DELIRIC score (Second edition): age, APACHE II score, admission group, emergency admission, infection, coma, sedation, morphine use, urea level, and metabolic acidosis

this showed cytology free from neoplastic agents and gave rise to a conspicuous development of Candida. Serological positivity for influenza A virus and T8-lymphocytes increases (Helper/Suppressor > H/S). A combination therapy with amoxicillin/clavulanate and macrolide over 6 days was administered. Continuous Positive Air Pressure (CPAP) via face mask (initial CPAP setting at 2 cmH2O, then adjusted up to 8 cmH2O) was administered by Puritan Bennett 7200 (Puritan Bennett Co., Overland Park, KS), in the early hours of admittance in Respiratory High Dependency Care Unit (RHDCU), using FiO2 at variable flow (FiO2 range: 40–35%), necessary to maintain SaO2 ≥ 90%, pending resolution of the pneumonia, thanks to promptly initiated antibiotic therapy. Few hours later a bi-level ventilation was administered (Pressure Support increased from 5 a 10 cmH2O) with Positive End Expiratory Pressure (PEEP da 2 a 5 cmH2O) in order to obtain an exhaled tidal volume greater than 6 mL/kg, disappearance of accessory muscle activity, and greater patient comfort. The permanence of an “oneiroid” state in the patient prompted to perform an electroencephalogram (EEG): “prevalence of theta activity at 4–6 Hz, over the whole range, interspersed with recurrent sequences of alpha activity at 7–8 Hz, (in a widely slowed down trace)…” (Fig. 1.2). The condition was not accompanied by alterations in the acid–base balance or glycemia. Computed tomography (CT) Scan of the Brain (CT-brain scans) was negative for tono-densitometric alterations. In the following days, we witnessed a gradual psycho-sensory improvement going in parallel with the clinical-Rx thoracic graph (Figs. 1.3 and 1.4); then he was transferred to the medical ward for further treatment. The patient was eventually discharged after few days in early supported discharge because of the improvement of the overall clinical picture.

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Fig. 1.1  At admittance X-ray (length = 3031 Pixels; height = 1992 Pixels; 2400 dpi resolution)

Fig. 1.2  EEG: electroencephalogram: “prevalence of theta activity at 4–6  Hz, over the whole range, interspersed with recurrent sequences of alpha activity at 7–8 Hz”

1  Case Report: Delirium Permanence During Resolution Phase of Massive… Fig. 1.3  During treatment X-ray (length = 3031 Pixels; height = 1992 Pixels; 2400 dpi resolution)

Fig. 1.4  At discharged X-ray (length = 3031 Pixels; height = 1992 Pixels; 2400 dpi resolution)

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1.2 Discussion 1.2.1 Definition of Delirium Delirium is an acute and fluctuating alteration of the normal mental state with reduced awareness and disturbance of attention [1]. It is usually a reversible neuropsychiatric syndrome that frequently occurs in critically ill patients. In the English literature, synonyms of delirium such as the Intensive Care Unit syndrome, acute brain dysfunction, acute brain failure, psychosis, confusion, and encephalopathy are widely used. This often leads to scientific “confusion” regarding published data and methodology within studies, which is further exacerbated by organizational, cultural and language barriers [2].

In Morandi et al. (2008) only 54% of 24 authors use the term “delirium” to indicate the disorder as defined by the DSM-IV, “… as an acute change in mental status, inattention, disorganized thinking and altered level of consciousness…” [2]. Our patient was considered to suffer from delirium based on their meeting the DSM IV criteria for delirium [3]; the presence of transient delirium was acknowledged via psychiatric evaluation and defined as “oneiroid state”. As well as convulsive causes, nonconvulsive seizure is also a recognized cause of altered consciousness in critically ill patients. In patients admitted to intensive care unit (ICU) “delirium” usually features more than one cause, the most common risk factors are: hypoxemia, infection, acute metabolic acidosis, alkalosis, electrolyte imbalance, drugs/dehydration, level of pain, and psychiatric illness [4]. As to our patient, the presence of type 2-diabetes mellitus, infection, and obstructive lung disease with respiratory failure (PaCO2 greater than 45 mmHg, PaO2 less than 55 mmHg, and oxygen saturation less than 88%) seemed to be the only risk factors conducive to delirium [5]. Indeed, neither previous history of psychiatric illness nor previous ICU stay was present. It is worthwhile to highlight such an aspect for in chronically critically ill patients (pts) a neurological disorder as the cause of respiratory failure was found 2.4 times more frequent in the persistent delirium group than in the transient-­ delirium group (26% versus 10%, p = 0.003) [6]. It is equally well known the capacity of delirium to modify the outcome of an illness much like its severity degree. In short, the more severe the illness is, the likelier the possibility of the onset of delirium, leading in turn to poorer clinical outcomes [7]. As it happens, delirium is associated with the presence of a more severe illness score (Acute Physiology AND Chronic Health Evaluation (APACHE II) [8] not least in pts. during Weaning from Prolonged Mechanical Ventilation [9] and is equally correlated to poor prognosis, with a mortality rate of up to 63% in ICU pts. admitted for septic encephalopathy with a Glasgow Coma Scale score (GCSs) [10] between 3 and 8 [11].

1  Case Report: Delirium Permanence During Resolution Phase of Massive…

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1.2.2 Risk Factors for Delirium To calculate the risk of delirium in our patient we used the PRE-DELIRIC score (second edition) which includes 10 predictors [age, APACHE II score, admission group (medical, surgical, trauma, and neurologic), emergency admission, infection, coma, sedation, morphine use, urea level, and metabolic acidosis], and which relies on logistic regression (Table 1.1) [12]. Delirium was also assessed by using EVIDENCIO Medical Prediction Model [Evidencio v3.16 © 2015–2023], and it turned out to be equal to 20% [13]. According to van den Boogaard et al. (2012) [14], revised by using the Mayo Delirium Prediction (MDP) tool [15] on a toll of 120.764 people classified into the three groups—low (25/30). Indeed only seven subjects with moderate cognitive impairment (MMSE26/30. Mild cognitive impairment rates between 26/30 and 21/30. Moderate cognitive impairment rates MMSE between 20/30 and 10/30. Sever cognitive impairment is with MMSE 6.5 kPa • (European ALS/MND Consortium) According to more recent NICE guidelines published in 2016 and updated in 2019, patients with an FVC or VC less than 50% predicted or less than 80% predicted and with signs and symptoms suggesting respiratory function impairment or a sniff nasal inspiratory pressure less than 40  cmH2O should be started NIV, as showed in Fig. 23.1 [42, 45]. Despite these evidence, there are also several hypotheses that suggest more early initiation of NIV (Lechtzin N, Scott Y). The NICE guidelines underlined also that the decision of starting NIV must be proposed by a multidisciplinary team. The patient must be informed about the benefits and about the difficulties that he can experiment during the treatment [46]. NIV can be considered also as a treatment for patients in terminal phase of the disease and it seems to be not associated with any adverse effects [47]. Bi-level positive pressure device is more used in patients with ALS [48], while continuous positive pressure ventilation (CPAP) is not usually appropriate for these patients. The treatment with nIV in MND may be hampered by reasons that reduce its compliance. For example, they can develop sialorrhea primarily due to bulbar dysfunction with poor coordination of the tongue and palate. This could result in poor performance with NIV and lead to intolerance of a life-prolonging treatment [16]. Also obstruction related to abnormal function of the vocal cords and increase in risk of aspiration are frequent [48]. Hence to improve the compliance in these patients, it can be useful to give attention to secretion management and humidification. Another element to be considered in the compliance of these patients is that the setting of the parameters used in NIV must be adjusted and modified during the disease

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Fig. 23.1  NICE guideline on the introduction of NIV in those with MND

progression. Therefore, these patients present often cognitive impairment like frontotemporal dementia, psychiatric conditions which can range from apathy, behavioural and mood changes, and condition of social isolation. All of these disorders can lead to discontinuation of therapy [38, 49].

23.3 Duchenne Muscular Dystrophy (DMD) Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy of childhood [50]. It is a genetic disease, inherited as an X-linked recessive disorder (Xp2.1), that lead to the complete absence of the protein dystrophin in cytoskeletal [51] with consequent progressive atrophy, weakness and dysfunction in skeletal, smooth, and cardiac muscle [52, 53]. The symptoms may include fatigue, frequent falls, progressive difficulty in walking, learning difficulties, and mental retardation. Respiratory failure is due to paralysis of respiratory muscles that causes a decrease in forced vital capacity (FVC) from 12 years old. FVC decreases by 5–10% per year during the disease [54]. At the age of about 20 daytime respiratory failure with hypercapnia develops [55]. Cardiac and respiratory failure are the most common cause of death, at the age of about 20–30 with conventional therapy [52, 56, 57]. The correct management of respiratory failure in these patients has been widely discussed in literature, more specific there are discordant hypothesis about the use of invasive versus non-­invasive ventilation. Both invasive and non-invasive ventilation present some risks, like, in

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case of invasive ventilation: accidental disconnection, ventilator failure, infection, fistula, mucus plugging, or haemorrhage for tracheostomy ventilation. The risks of NIV can be losing access to the non-invasive interface, ventilator failure, or airway congestion [58]. Nevertheless, non-invasive management is associated with fewer respiratory hospitalizations, lower costs [59], and more compliance than invasive ventilation, thanks to its safety, convenience, comfort, and general more acceptability [60]. There are several studies that have not found correlation between NIV and improve in survival [50, 61] and about the evidence of more benefit with invasive ventilation, even more when conducted with mini-tracheotomy to stabilize the vital capacity in DMD patients [62, 63]. According to other studies, the survival seems to be the same in patients in continuous NIV and in tracheostomy ventilation [64] even more when NIV is used also for assisted cough [65]. A predominately nocturnal NIV use prolongs survival in these patients with a survival that can reach to 25.3–30.4  years [66–68]. Hence NIV is currently considered the first-line treatment in DMD. During the first years of respiratory dysfunction, nocturnal NIV is used to treat symptoms that develop during the sleep [69] and then it can be extended also to diurnal NIV with cough assistance [33, 70, 71]. About the indications to start NIV, currently, it is indicated when vital capacity drops below 20% of the theoretical value, or PaCO2 level is above or equal to 45 mmHg [50, 72]. However, according to some studies, the preventive use of NIV in patients with asymptomatic Duchenne muscular dystrophy before the development of nocturnal or diurnal ventilator insufficiency is not associated with better survival [30]. During the progression of the disease, the severe bulbar dysfunction or the ineffectiveness in cough assistance leads to frequent tracheal aspiration through tracheotomy. This is one of the moments to switch to invasive ventilation [72–74]. The switch occurs also when NIV becomes ineffective or poorly tolerated [72–74] or in case of an episode of acute respiratory failure. In this case it may be possible to return to non-invasive ventilation [71, 75].

23.4 Spinal Muscular Atrophy (SMA) Spinal muscular atrophy (SMA) is a genetic disease, due to the mutations in the survival of motor neuron (SMN1 or SMN2) gene. It includes a wide range of phenotypes: very weak infants unable to sit without support (type 1), non-ambulant children able to sit independently (type 2), up to ambulant children (type 3), and adults (type 4) [76, 77]. The type 1 includes type 1B in which symptoms onset