1932

Abstract

Chronic respiratory failure is a common, important complication of many types of neuromuscular and chest wall disorders. While the pathophysiology of each disease may be different, these disorders can variably affect all muscles involved in breathing, including inspiratory, expiratory, and bulbar muscles, ultimately leading to chronic respiratory failure and hypoventilation. The use of home assisted ventilation through noninvasive interfaces aims to improve the symptoms of hypoventilation, improve sleep quality, and, when possible, improve mortality. An increasing variety of interfaces has allowed for improved comfort and compliance. In a minority of scenarios, noninvasive ventilation is either not appropriate or no longer effective due to disease progression, and a transition to tracheal ventilation should be considered.

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2023-01-27
2024-05-16
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Literature Cited

  1. 1.
    Simonds AK. 2016. Home mechanical ventilation: an overview. Ann. Am. Thorac. Soc. 13:112035–44
    [Google Scholar]
  2. 2.
    King AC. 2012. Long-term home mechanical ventilation in the United States. Respir. Care 57:6921–32
    [Google Scholar]
  3. 3.
    Passamano L, Taglia A, Palladino A et al. 2012. Improvement of survival in Duchenne muscular dystrophy: retrospective analysis of 835 patients. Acta Myol 31:2121–25
    [Google Scholar]
  4. 4.
    Chatwin M, Tan HL, Bush A et al. 2015. Long term non-invasive ventilation in children: impact on survival and transition to adult care. PLOS ONE 10:5e0125839
    [Google Scholar]
  5. 5.
    Eagle M, Baudouin SV, Chandler C et al. 2002. Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation. Neuromuscul. Disord. 12:10926–29
    [Google Scholar]
  6. 6.
    Jeppesen J, Green A, Steffensen BF et al. 2003. The Duchenne muscular dystrophy population in Denmark, 1977–2001: prevalence, incidence and survival in relation to the introduction of ventilator use. Neuromuscul. Disord. 13:10804–12
    [Google Scholar]
  7. 7.
    McCool FD, Hilbert J, Wolfe LF et al. 2022. The respiratory system and neuromuscular diseases. Murray & Nadel's Textbook of Respiratory Medicine, Vol. 1301812–28.e5 Philadelphia: Elsevier. , 7th ed..
    [Google Scholar]
  8. 8.
    Ng L, Khan F, Young CA et al. 2017. Symptomatic treatments for amyotrophic lateral sclerosis/motor neuron disease. Cochrane Database Syst. Rev. 1:CD011776
    [Google Scholar]
  9. 9.
    Radunovic A, Annane D, Rafiq MK et al. 2017. Mechanical ventilation for amyotrophic lateral sclerosis/motor neuron disease. Cochrane Database Syst. Rev. 10:CD004427
    [Google Scholar]
  10. 10.
    Benditt JO. 2018. Pathophysiology of neuromuscular respiratory diseases. Clin. Chest Med. 39:2297–308
    [Google Scholar]
  11. 11.
    Perrin C, Unterborn JN, D'Ambrosio C et al. 2004. Pulmonary complications of chronic neuromuscular diseases and their management. Muscle Nerve 29:15–27
    [Google Scholar]
  12. 12.
    Aboussouan LS, Mireles-Cabodevila E. 2017. Sleep-disordered breathing in neuromuscular disease: diagnostic and therapeutic challenges. Chest 152:4880–92
    [Google Scholar]
  13. 13.
    Hilbert J. 2018. Sleep-disordered breathing in neuromuscular and chest wall diseases. Clin. Chest Med. 39:2309–24
    [Google Scholar]
  14. 14.
    Brown RH, Al-Chalabi A. 2017. Amyotrophic lateral sclerosis. N. Engl. J. Med. 377:2162–72
    [Google Scholar]
  15. 15.
    Simonds AK. 2002. Respiratory complications of the muscular dystrophies. Semin. Respir. Crit. Care Med. 23:3231–38
    [Google Scholar]
  16. 16.
    Vanhorebeek I, Latronico N, Van den Berghe G. 2020. ICU-acquired weakness. Intensive Care Med 46:4637–53
    [Google Scholar]
  17. 17.
    Tzelepis GE. 2018. Chest wall diseases: respiratory pathophysiology. Clin. Chest Med. 39:2281–96
    [Google Scholar]
  18. 18.
    Benditt JO, Boitano LJ. 2013. Pulmonary issues in patients with chronic neuromuscular disease. Am. J. Respir. Crit. Care Med. 187:101046–55
    [Google Scholar]
  19. 19.
    Brooks SM. 2011. Perspective on the human cough reflex. Cough 7:110
    [Google Scholar]
  20. 20.
    Katz S, Arish N, Rokach A et al. 2018. The effect of body position on pulmonary function: a systematic review. BMC Pulm. Med. 18:1159
    [Google Scholar]
  21. 21.
    Am. Thorac. Soc./Eur. Respir. Soc 2002. ATS/ERS Statement on Respiratory Muscle Testing. Am. J. Pathol. 166:4518–624
    [Google Scholar]
  22. 22.
    Schiffman PL, Belsh JM. 1993. Pulmonary function at diagnosis of amyotrophic lateral sclerosis: rate of deterioration. Chest 103:2508–13
    [Google Scholar]
  23. 23.
    Vincken W, Elleker MG, Cosio MG. 1987. Determinants of respiratory muscle weakness in stable chronic neuromuscular disorders. Am. J. Med. 82:153–58
    [Google Scholar]
  24. 24.
    McCool FD, Leith DE. 1987. Pathophysiology of cough. Clin. Chest Med. 8:2189–95
    [Google Scholar]
  25. 25.
    Britton D, Karam C, Schindler JS. 2018. Swallowing and secretion management in neuromuscular disease. Clin. Chest Med. 39:2449–57
    [Google Scholar]
  26. 26.
    Trebbia G, Lacombe M, Fermanian C et al. 2005. Cough determinants in patients with neuromuscular disease. Respir. Physiol. Neurobiol. 146:2–3291–300
    [Google Scholar]
  27. 27.
    Laghi F, Maddipati V, Schnell T et al. 2017. Determinants of cough effectiveness in patients with respiratory muscle weakness. Respir. Physiol. Neurobiol. 240:17–25
    [Google Scholar]
  28. 28.
    Chaudri M, Liu C, Hubbard R et al. 2002. Relationship between supramaximal flow during cough and mortality in motor neurone disease. Eur. Respir. J. 19:434–38
    [Google Scholar]
  29. 29.
    Sancho J, Servera E, Díaz J et al. 2007. Predictors of ineffective cough during a chest infection in patients with stable amyotrophic lateral sclerosis. Am. J. Respir. Crit. Care Med. 175:121266–71
    [Google Scholar]
  30. 30.
    Bach JR, Ishikawa Y, Kim H. 1997. Prevention of pulmonary morbidity for patients with Duchenne muscular dystrophy. Chest 112:41024–28
    [Google Scholar]
  31. 31.
    Won YH, Choi WA, Lee JW et al. 2016. Sleep transcutaneous versus end-tidal CO2 monitoring for patients with neuromuscular disease. Am. J. Phys. Med. Rehabil. 95:291–95
    [Google Scholar]
  32. 32.
    Hess DR. 2018. Noninvasive ventilation for neuromuscular disease. Clin. Chest Med. 39:2437–47
    [Google Scholar]
  33. 33.
    Pierucci P, Crimi C, Carlucci A et al. 2021. REINVENT: ERS International survey on REstrictive thoracic diseases IN long term home noninvasive VENTilation. ERJ Open Res 7:200911–02020
    [Google Scholar]
  34. 34.
    Kleopa KA, Sherman M, Neal B et al. 1999. Bipap improves survival and rate of pulmonary function decline in patients with ALS. J. Neurol. Sci. 164:182–88
    [Google Scholar]
  35. 35.
    Khamankar N, Coan G, Weaver B et al. 2018. Associative increases in amyotrophic lateral sclerosis survival duration with non-invasive ventilation initiation and usage protocols. Front. Neurol. 9:578
    [Google Scholar]
  36. 36.
    Bourke SC, Tomlinson M, Williams TL et al. 2006. Effects of non-invasive ventilation on survival and quality of life in patients with amyotrophic lateral sclerosis: a randomised controlled trial. Lancet Neurol. 5:2140–47
    [Google Scholar]
  37. 37.
    Yasuma F, Sakai M, Matsuoke Y. 1996. Effects of noninvasive ventilation on survival in patients with Duchenne's muscular dystrophy. Chest 109:2590
    [Google Scholar]
  38. 38.
    Toussaint M, Steens M, Wasteels G et al. 2006. Diurnal ventilation via mouthpiece: survival in end-stage Duchenne patients. Eur. Respir. J. 28:3549–55
    [Google Scholar]
  39. 39.
    Miller RG, Jackson CE, Kasarskis EJ et al. 2009. Practice parameter update: the care of the patient with amyotrophic lateral sclerosis: multidisciplinary care, symptom management, and cognitive/behavioral impairment (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology. Neurology 73:151227–33
    [Google Scholar]
  40. 40.
    Finder JD, Birnkrant D, Carl J et al. 2004. Respiratory care of the patient with Duchenne muscular dystrophy: ATS consensus statement. Am. J. Respir. Crit. Care Med. 170:4456–65
    [Google Scholar]
  41. 41.
    Birnkrant DJ, Bushby KMD, Amin RS et al. 2010. The respiratory management of patients with Duchenne muscular dystrophy: a DMD care considerations working group specialty article. Pediatr. Pulmonol. 45:8739–48
    [Google Scholar]
  42. 42.
    Consens. Conf. 1999. Clinical indications for noninvasive positive pressure ventilation in chronic respiratory failure due to restrictive lung disease, COPD, and nocturnal hypoventilation—a consensus conference report. Chest 116:2521–34
    [Google Scholar]
  43. 43.
    Patil SP, Collop NA, Chediak AD et al. 2021. Optimal NIV Medicare access promotion: patients with OSA: a technical expert panel report from the American College of Chest Physicians, the American Association for Respiratory Care, the. American Academy of Sleep Medicine, and the American Thoracic Society. Chest 160:5e409–17
    [Google Scholar]
  44. 44.
    McKim DA, Road J, Avendano M et al. 2011. Home mechanical ventilation: a Canadian Thoracic Society clinical practice guideline. Can. Respir. J. 18:4197–215
    [Google Scholar]
  45. 45.
    Heiman-Patterson TD, Cudkowicz ME, De Carvalho M et al. 2018. Understanding the use of NIV in ALS: results of an international ALS specialist survey. Amyotroph. Lateral Scler. Frontotemporal Degener. 19:5–6331–41
    [Google Scholar]
  46. 46.
    Vitacca M, Montini A, Lunetta C et al. 2018. Impact of an early respiratory care programme with non-invasive ventilation adaptation in patients with amyotrophic lateral sclerosis. Eur. J. Neurol. 25:3556-e33
    [Google Scholar]
  47. 47.
    Czaplinski A, Yen AA, Appel SH. 2006. Forced vital capacity (FVC) as an indicator of survival and disease progression in an ALS clinic population. J. Neurol. Neurosurg. Psychiatry 77:3390–92
    [Google Scholar]
  48. 48.
    Sunwoo BY, Mulholland M, Rosen IM et al. 2014. The changing landscape of adult home noninvasive ventilation technology, use, and reimbursement in the United States. Chest 145:51134–40
    [Google Scholar]
  49. 49.
    Andersen PM, Abrahams S, Borasio GD et al. 2012. EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)—revised report of an EFNS task force. Eur. J. Neurol. 19:3360–75
    [Google Scholar]
  50. 50.
    Dorst J, Ludolph AC. 2019. Non-invasive ventilation in amyotrophic lateral sclerosis. Ther. Adv. Neurol. Disord. 12:1–14
    [Google Scholar]
  51. 51.
    Morgan RK, McNally S, Alexander M et al. 2005. Use of sniff nasal-inspiratory force to predict survival in amyotrophic lateral sclerosis. Am. J. Respir. Crit. Care Med. 171:3269–74
    [Google Scholar]
  52. 52.
    Nava S, Navalesi P, Gregoretti C. 2009. Interfaces and humidification for noninvasive mechanical ventilation. Respir. Care 54:171–84
    [Google Scholar]
  53. 53.
    Toussaint M, Chatwin M, Gonçalves MR et al. 2021. Mouthpiece ventilation in neuromuscular disorders: narrative review of technical issues important for clinical success. Respir. Med. 180:106373
    [Google Scholar]
  54. 54.
    Hess DR. 2006. Noninvasive ventilation in neuromuscular disease: equipment and application. Respir. Care 51:8896–912
    [Google Scholar]
  55. 55.
    Wilson GN, Piper AJ, Norman M et al. 2004. Nasal versus full face mask for noninvasive ventilation in chronic respiratory failure. Eur. Respir. J. 23:4605–9
    [Google Scholar]
  56. 56.
    Gonzalez J, Sharshar T, Hart N et al. 2003. Air leaks during mechanical ventilation as a cause of persistent hypercapnia in neuromuscular disorders. Intensive Care Med 29:4596–602
    [Google Scholar]
  57. 57.
    Benditt JO. 2019. Respiratory care of patients with neuromuscular disease. Respir. Care 64:6679–88
    [Google Scholar]
  58. 58.
    Parsons EC, Carter JC, Wrede JE et al. 2019. Practical implementation of noninvasive ventilation in amyotrophic lateral sclerosis: lessons learned from a clinical case series. Can. J. Respir. Ther. 55:13–15
    [Google Scholar]
  59. 59.
    Aboussouan LS, Khan SU, Meeker DP et al. 1997. Effect of noninvasive positive-pressure ventilation on survival in amyotrophic lateral sclerosis. Ann. Intern. Med. 127:6450–53
    [Google Scholar]
  60. 60.
    Martínez D, Sancho J, Servera E et al. 2015. Tolerance of volume control noninvasive ventilation in subjects with amyotrophic lateral sclerosis. Respir. Care 60:121765–71
    [Google Scholar]
  61. 61.
    Nicholson TT, Smith SB, Siddique T et al. 2017. Respiratory pattern and tidal volumes differ for pressure support and volume-assured pressure support in amyotrophic lateral sclerosis. Ann. Am. Thorac. Soc. 14:71139–46
    [Google Scholar]
  62. 62.
    Garuti G, Nicolini A, Grecchi B et al. 2014. Open circuit mouthpiece ventilation: concise clinical review. Rev. Port. Pneumol. 20:4211–18
    [Google Scholar]
  63. 63.
    Bach JR, Alba AS, Saporito LR. 1993. Intermittent positive pressure ventilation via the mouth as an alternative to tracheostomy for 257 ventilator users. Chest 103:1174–82
    [Google Scholar]
  64. 64.
    Britton D, Benditt JO, Hoit JD. 2016. Beyond tracheostomy: noninvasive ventilation and potential positive implications for speaking and swallowing. Semin. Speech Lang. 37:3173–84
    [Google Scholar]
  65. 65.
    Affeldt JE. 1953. Roundtable Conference on Poliomyelitis Equipment Natl. Found. Infantile Paralysis New York, NY: May 28–29
  66. 66.
    Chatwin M, Gonçalves M, Gonzalez-Bermejo J et al. 2020. 252nd ENMC international workshop: developing best practice guidelines for management of mouthpiece ventilation in neuromuscular disorders. March 6th to 8th 2020, Amsterdam, the Netherlands. Neuromuscul. Disord. 30:9772–81
    [Google Scholar]
  67. 67.
    Bach JR. 2017. Noninvasive respiratory management of patients with neuromuscular disease. Ann. Rehabil. Med. 41:4519–38
    [Google Scholar]
  68. 68.
    Kaub-Wittemer D, Von Steinbüchel N, Wasner M et al. 2003. Quality of life and psychosocial issues in ventilated patients with amyotrophic lateral sclerosis and their caregivers. J. Pain Symptom Manag. 26:4890–96
    [Google Scholar]
  69. 69.
    Chatwin M, Toussaint M, Gonçalves MR et al. 2018. Airway clearance techniques in neuromuscular disorders: a state of the art review. Respir. Med. 136:98–110
    [Google Scholar]
  70. 70.
    Zahm JM, King M, Duvivier C et al. 1991. Role of simulated repetitive coughing in mucus clearance. Eur. Respir. J. 4:3311–15
    [Google Scholar]
  71. 71.
    Chatwin M, Simonds AK. 2020. Long-term mechanical insufflation-exsufflation cough assistance in neuromuscular disease: patterns of use and lessons for application. Respir. Care 65:2135–43
    [Google Scholar]
  72. 72.
    Sancho J, Servera E, Díaz J et al. 2004. Efficacy of mechanical insufflation-exsufflation in medically stable patients with amyotrophic lateral sclerosis. Chest 125:41400–5
    [Google Scholar]
  73. 73.
    Landfeldt E, Edström J, Buccella F et al. 2018. Duchenne muscular dystrophy and caregiver burden: a systematic review. Dev. Med. Child Neurol. 60:10987–96
    [Google Scholar]
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