Schlaf und Atmung bei neuromuskulären Erkrankungen

Lernziele

Kenntnis der

• klinischen Symptome und Pathophysiologie schlafbezogener Atmungsstörungen und der muskulären Atmungsschwäche

• spirometrischen, manometrischen und schlafmedizinischen Untersuchungsverfahren zur Feststellung der muskulären Atmungsschwäche und schlafbezogener Atmungsstörungen

• neuromuskulären Erkrankungen, die gehäuft mit schlafbezogenen Atmungsstörungen einhergehen können

• Indikationskriterien für die Einleitung einer nicht invasiven Beatmung

• Effekte der nicht invasiven Beatmung auf Schlaf, Lebensqualität und Lebenserwartung bei unterschiedlichen neuromuskulären Krankheitsbildern

• 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