Schlaf und Atmung bei neuromuskulären Erkrankungen

Literatur
1 Deenen JCW, Horlings CGC, Verschuuren JJGM et al. The Epidemiology of Neuromuscular Disorders: A Comprehensive Overview of the Literature. Journal of Neuromuscular Diseases 2015; 2: 73-85
2 Osanai S, Akiba Y, Nakano H et al. Charcot-Marie-Tooth disease with diaphragmatic weakness. Intern Med 1992; 31: 1267-1270
3 de Carvalho M, Matias T, Coelho F et al. Motor neuron disease presenting with respiratory failure. Journal of the neurological sciences 1996; 139 (Suppl) 117-122
4 Khirani S, Colella M, Caldarelli V et al. Longitudinal course of lung function and respiratory muscle strength in spinal muscular atrophy type 2 and 3. Eur J Paediatr Neurol 2013; 17: 552-560
5 Berger KI, Rapoport DM, Ayappa I et al. Pathophysiology of hypoventilation during sleep. Sleep Med Clin 2014; 9: 289-300
6 Windisch W, Brambring J, Budweiser S et al. [Non-invasive and invasive mechanical ventilation for treatment of chronic respiratory failure. S2-Guidelines published by the German Medical Association of Pneumology and Ventilatory Support]. Pneumologie 2010; 64: 207-240
7 Iber C, Ancoli-Israel S, Chesson A, Quan SF eds. The AASM manual for the scoring of sleep and associated events: rules, terminology, and technical specification. 1st. ed. Westchester, IL: American Academy of Sleep Medicin; 2007
8 Walsleben JA, Kapur VK, Newman AB et al. Sleep and reported daytime sleepiness in normal subjects: the Sleep Heart Health Study. Sleep 2004; 27: 293-298
9 Chahal CA, Somers VK. Risk factors. Sleep apnoea, atrial fibrillation, and heart failure – quo vadis?. Nat Rev Cardiol 2015; 12: 263-264
10 Dempsey JA, Veasey SC, Morgan BJ et al. Pathophysiology of Sleep Apnea. Physiological Reviews 2010; 90: 47-112
11 Boentert M, Knop K, Schuhmacher C et al. Sleep disorders in Charcot-Marie-Tooth disease type 1. J Neurol Neurosurg Psychiatry 2014; 85: 319-325
12 Bianchi ML, Losurdo A, Di Blasi C et al. Prevalence and clinical correlates of sleep disordered breathing in myotonic dystrophy types 1 and 2. Sleep Breath 2014; 18: 579-589
13 Schneider H, Boudewyns A, Smith PL et al. Modulation of upper airway collapsibility during sleep: influence of respiratory phase and flow regimen. J Appl Physiol 2002; 93: 1365-1376
14 American Academy of Sleep Medicine. International Classification of Sleep Disorders. Darien, IL: American Academy of Sleep Medicine; 2014
15 Barthlen GM. Nocturnal respiratory failure as an indication of noninvasive ventilation in the patient with neuromuscular disease. Respiration 1997; 64 (Suppl. 01) 35-38
16 Li W, Daems E, Van de Woestijne KP et al. Air hunger and ventilation in response to hypercapnia: effects of repetition and anxiety. Physiol Behav 2006; 88: 47-54
17 Cohen CA, Zagelbaum G, Gross D et al. Clinical manifestations of inspiratory muscle fatigue. Am J Med 1982; 73: 308-316
18 Badr C, Elkins MR, Ellis ER. The effect of body position on maximal expiratory pressure and flow. Aust J Physiother 2002; 48: 95-102
19 Griggs RC, Donohoe KM, Utell MJ et al. Evaluation of pulmonary function in neuromuscular disease. Arch Neurol 1981; 38: 9-12
20 Rochester DF, Esau SA. Assessment of ventilatory function in patients with neuromuscular disease. Clin Chest Med 1994; 15: 751-763
21 Ward NS, Hill NS. Pulmonary function testing in neuromuscular disease. Clin Chest Med 2001; 22: 769-781
22 Kang SW, Bach JR. Maximum insufflation capacity: vital capacity and cough flows in neuromuscular disease. Am J Phys Med Rehabil 2000; 79: 222-227
23 Evans JA, Whitelaw WA. The assessment of maximal respiratory mouth pressures in adults. Respir Care 2009; 54: 1348-1359
24 Mellies U, Ragette R, Schwake C et al. Daytime predictors of sleep disordered breathing in children and adolescents with neuromuscular disorders. Neuromuscul Disord 2003; 13: 123-128
25 Ragette R, Mellies U, Schwake C et al. Patterns and predictors of sleep disordered breathing in primary myopathies. Thorax 2002; 57: 724-728
26 Toussaint M, Steens M, Soudon P. Lung function accurately predicts hypercapnia in patients with Duchenne muscular dystrophy. Chest 2007; 131: 368-375
27 Kabitz HJ, Walterspacher S, Mellies U et al. [Recommendations for respiratory muscle testing]. Pneumologie 2014; 68: 307-314
28 Prigent H, Orlikowski D, Fermanian C et al. Sniff and Muller manoeuvres to measure diaphragmatic muscle strength. Respiratory medicine 2008; 102: 1737-1743
29 Dean E. Preferred Practice Patterns in Cardiopulmonary Physical Therapy: A Guide to Physiologic Measures. Cardiopulmonary Physical Therapy Journal 1999; 10: 124-134
30 Pinto S, Turkman A, Pinto A et al. Predicting respiratory insufficiency in amyotrophic lateral sclerosis: the role of phrenic nerve studies. Clin Neurophysiol 2009; 120: 941-946
31 de Carvalho M, Pinto S, Swash M. Association of paraspinal and diaphragm denervation in ALS. Amyotrophic lateral sclerosis: official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases 2010; 11: 63-66
32 Kim WY, Suh HJ, Hong SB et al. Diaphragm dysfunction assessed by ultrasonography: influence on weaning from mechanical ventilation. Crit Care Med 2011; 39: 2627-2630
33 ATS/ERS. Statement on respiratory muscle testing. Am J Respir Crit Care Med 2002; 166: 518-624
34 Sergi M, Rizzi M, Comi AL et al. Sleep Apnea in Moderate-Severe Obese Patients. Sleep Breath 1999; 3: 47-52
35 Martinho FL, Tangerina RP, Moura SM et al. Systematic head and neck physical examination as a predictor of obstructive sleep apnea in class III obese patients. Braz J Med Biol Res 2008; 41: 1093-1097
36 Friedman M, Tanyeri H, La Rosa M et al. Clinical predictors of obstructive sleep apnea. Laryngoscope 1999; 109: 1901-1907
37 Neu D, Mairesse O, Hoffmann G et al. Do 'sleepy' and 'tired' go together? Rasch analysis of the relationships between sleepiness, fatigue and nonrestorative sleep complaints in a nonclinical population sample. Neuroepidemiology 2010; 35: 1-11
38 Johns MW. A new method for measuring daytime sleepiness: the Epworth sleepiness scale. Sleep 1991; 14: 540-545
39 Nishiyama T, Mizuno T, Kojima M et al. Criterion validity of the Pittsburgh Sleep Quality Index and Epworth Sleepiness Scale for the diagnosis of sleep disorders. Sleep Med 2014; 15: 422-429
40 Nguyen AT, Baltzan MA, Small D et al. Clinical reproducibility of the Epworth Sleepiness Scale. J Clin Sleep Med 2006; 2: 170-174
41 Laberge L, Gagnon C, Jean S et al. Fatigue and daytime sleepiness rating scales in myotonic dystrophy: a study of reliability. J Neurol Neurosurg Psychiatry 2005; 76: 1403-1405
42 Boentert M, Dziewas R, Heidbreder A et al. Fatigue, reduced sleep quality and restless legs syndrome in Charcot-Marie-Tooth disease: a web-based survey. J Neurol 2010; 257: 646-652
43 Hossain JL, Ahmad P, Reinish LW et al. Subjective fatigue and subjective sleepiness: two independent consequences of sleep disorders?. J Sleep Res 2005; 14: 245-253
44 Windisch W, Walterspacher S, Siemon K et al. Guidelines for non-invasive and invasive mechanical ventilation for treatment of chronic respiratory failure. Published by the German Society for Pneumology (DGP). Pneumologie 2010; 64: 640-652
45 Ogna A, Quera Salva MA, Prigent H et al. Nocturnal hypoventilation in neuromuscular disease: prevalence according to different definitions issued from the literature. Sleep Breath 2016; 20: 575-581
46 Hukins CA, Hillman DR. Daytime predictors of sleep hypoventilation in Duchenne muscular dystrophy. Am J Respir Crit Care Med 2000; 161: 166-170
47 Linz D, Woehrle H, Bitter T et al. The importance of sleep-disordered breathing in cardiovascular disease. Clin Res Cardiol 2015; 104: 705-718
48 Cherniack NS, Longobardo G, Evangelista CJ. Causes of Cheyne-Stokes respiration. Neurocrit Care 2005; 3: 271-279
49 Siccoli MM, Valko PO, Hermann DM et al. Central periodic breathing during sleep in 74 patients with acute ischemic stroke – neurogenic and cardiogenic factors. J Neurol 2008; 255: 1687-1692
50 Duning T, Deppe M, Brand E et al. Brainstem involvement as a cause of central sleep apnea: pattern of microstructural cerebral damage in patients with cerebral microangiopathy. PLoS One 2013; 8: e60304
51 Maurer JT, Stuck BA. [Update on upper airway evaluation in obstructive sleep apnea]. HNO 2008; 56: 1089-1097
52 Punjabi NM. The epidemiology of adult obstructive sleep apnea. Proc Am Thorac Soc 2008; 5: 136-143
53 Romigi A, Liguori C, Placidi F et al. Sleep disorders in spinal and bulbar muscular atrophy (Kennedy's disease): a controlled polysomnographic and self-reported questionnaires study. J Neurol 2014; 261: 889-893
54 Pincherle A, Patruno V, Raimondi P et al. Sleep breathing disorders in 40 Italian patients with Myotonic dystrophy type 1. Neuromuscul Disord 2012; 22: 219-224
55 Romigi A, Albanese M, Placidi F et al. Sleep disorders in myotonic dystrophy type 2: a controlled polysomnographic study and self-reported questionnaires. Eur J Neurol 2014; 21: 929-934
56 Polat M, Sakinci O, Ersoy B et al. Assessment of sleep-related breathing disorders in patients with duchenne muscular dystrophy. J Clin Med Res 2012; 4: 332-337
57 Santos C, Braghiroli A, Mazzini L et al. Sleep-related breathing disorders in amyotrophic lateral sclerosis. Monaldi Arch Chest Dis 2003; 59: 160-165
58 Della Marca G, Frusciante R, Dittoni S et al. Sleep disordered breathing in facioscapulohumeral muscular dystrophy. Journal of the neurological sciences 2009; 285: 54-58
59 Nicolle MW, Rask S, Koopman WJ et al. Sleep apnea in patients with myasthenia gravis. Neurology 2006; 67: 140-142
60 Gigliotti F, Pizzi A, Duranti R et al. Control of breathing in patients with limb girdle dystrophy: a controlled study. Thorax 1995; 50: 962-968
61 Stubgen JP, Ras GJ, Schultz CM et al. Lung and respiratory muscle function in limb girdle muscular dystrophy. Thorax 1994; 49: 61-65
62 Poppe M, Cree L, Bourke J et al. The phenotype of limb-girdle muscular dystrophy type 2I. Neurology 2003; 60: 1246-1251
63 Hagemans ML, Hop WJ, Van Doorn PA et al. Course of disability and respiratory function in untreated late-onset Pompe disease. Neurology 2006; 66: 581-583
64 Begin P, Mathieu J, Almirall J et al. Relationship between chronic hypercapnia and inspiratory-muscle weakness in myotonic dystrophy. Am J Respir Crit Care Med 1997; 156: 133-139
65 Johnson NE, Abbott D, Cannon-Albright LA. Relative risks for comorbidities associated with myotonic dystrophy: A population-based analysis. Muscle Nerve 2015; 52: 659-661
66 Laberge L, Begin P, Dauvilliers Y et al. A polysomnographic study of daytime sleepiness in myotonic dystrophy type 1. J Neurol Neurosurg Psychiatry 2009; 80: 642-646
67 Laberge L, Begin P, Montplaisir J et al. Sleep complaints in patients with myotonic dystrophy. J Sleep Res 2004; 13: 95-100
68 Martinez-Rodriguez JE, Lin L, Iranzo A et al. Decreased hypocretin-1 (Orexin-A) levels in the cerebrospinal fluid of patients with myotonic dystrophy and excessive daytime sleepiness. Sleep 2003; 26: 287-290
69 Hazenberg A, van Alfen N, Voet NB et al. Facioscapulohumeral muscular dystrophy and respiratory failure; what about the diaphragm?. Respir Med Case Rep 2015; 14: 37-39
70 Prudlo J, Koenig J, Ermert S et al. Sleep disordered breathing in medically stable patients with myasthenia gravis. Eur J Neurol 2007; 14: 321-326
71 Verse T, Bodlaj R, de la Chaux R et al. [Guideline: Treatment of obstructive sleep apnea in adults]. HNO 2009; 57: 1136-1156
72 Shi HB, Cheng L, Nakayama M et al. Effective comparison of two auto-CPAP devices for treatment of obstructive sleep apnea based on polysomnographic evaluation. Auris Nasus Larynx 2005; 32: 237-241
73 Arzt M, Floras JS, Logan AG et al. Suppression of central sleep apnea by continuous positive airway pressure and transplant-free survival in heart failure: a post hoc analysis of the Canadian Continuous Positive Airway Pressure for Patients with Central Sleep Apnea and Heart Failure Trial (CANPAP). Circulation 2007; 115: 3173-3180
74 Cowie MR, Woehrle H, Wegscheider K et al. Adaptive Servo-Ventilation for Central Sleep Apnea in Systolic Heart Failure. N Engl J Med 2015; 373: 1095-1105
75 Hutchinson D, Whyte K. Neuromuscular disease and respiratory failure. Pract Neurol 2008; 8: 229-237
76 Bourke SC, Tomlinson M, Williams TL et al. Effects of non-invasive ventilation on survival and quality of life in patients with amyotrophic lateral sclerosis: a randomised controlled trial. Lancet neurology 2006; 5: 140-147
77 Boentert M, Brenscheidt I, Glatz C et al. Effects of non-invasive ventilation on objective sleep and nocturnal respiration in patients with amyotrophic lateral sclerosis. J Neurol 2015; 262: 2073-2082
78 Raphael JC, Dazord A, Jaillard P et al. [Assessment of quality of life for home ventilated patients with Duchenne muscular dystrophy]. Rev Neurol 2002; 158: 453-460
79 Vandoorne E, Vrijsen B, Belge C et al. Noninvasive ventilation in amyotrophic lateral sclerosis: effects on sleep quality and quality of life. Acta Clin Belg 2016; 26: 1-6
80 Simonds AK, Muntoni F, Heather S et al. Impact of nasal ventilation on survival in hypercapnic Duchenne muscular dystrophy. Thorax 1998; 53: 949-952
81 Birnkrant DJ, Bushby KM, Amin RS et al. The respiratory management of patients with duchenne muscular dystrophy: a DMD care considerations working group specialty article. Pediatr Pulmonol 2010; 45: 739-748
82 EFNS Task Force on Diagnosis and Management of Amyotrophic Lateral Sclerosis. Andersen PM, Abrahams S, Borasio GD et al. EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS) – revised report of an EFNS task force. Eur J Neurol 2012; 19: 360-375
83 Cupler EJ, Berger KI, Leshner RT et al. Consensus treatment recommendations for late-onset Pompe disease. Muscle Nerve 2012; 45: 319-333