Skip to main content
SpringerLink
Log in

Sleep and Neuromuscular Diseases: Management and Use of NIV

  • Chapter
  • First Online:
Paediatric Sleep Disorders

  • 329 Accesses

Abstract

Neuromuscular disease (NMD) is a diverse group of hereditary or acquired conditions involving the anterior horn cells, nerves, neuromuscular junction or muscles. Sleep-disordered breathing (SDB) is common in children and adults with NMD with an estimated prevalence exceeding 40%. Characteristics of NMD like progressive neuromuscular weakness of respiratory and diaphragmatic muscles, anatomic or neurologic propensity to upper airway obstruction during sleep, and/or cardiomyopathy contribute to the development of SDB. Prevalence and pattern of SDB vary with different types of NMD, depending on the features of the disease and the tempo of progression to respiratory muscle impairment. Importantly, sleep-disordered breathing (SDB) and nocturnal hypoventilation are often the first signs of respiratory muscle weakness in patients with NMD. The imbalance between respiratory capacity and respiratory loads usually first manifests during sleep, if not acutely during respiratory decompensation in respiratory infection. In patients with NMD, SDB typically first develops in rapid-eye-movement sleep when muscle atonia occurs, followed by continuous nocturnal hypoventilation through the night and eventually by progression into daytime respiratory failure. Untreated SDB and hypoventilation in NMD carries high respiratory morbidity and mortality. Therefore, screening for SDB and nocturnal hypoventilation is a vital part of long-term management of NMD and to detect patients at risk for respiratory failure. Anticipatory approach with regular assessment of symptoms, pulmonary function and sleep in children affected by NMD can aid early diagnosis and management of SDB. Timely provision of respiratory care and non-invasive ventilation are essential components of a multi-disciplinary care to improve quality of life and survival of patients with NMD.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
eBook
USD 16.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 119.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 169.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Similar content being viewed by others

References

  1. Deenen JCW, Horlings CGC, Verschuuren JJGM, Verbeek ALM, van Engelen BGM. The epidemiology of neuromuscular disorders: a comprehensive overview of the literature. J Neuromuscul Dis. 2015;2(1):73–85.

    Article  Google Scholar 

  2. Chan SHS, Lo IFM, Cherk SWW, Cheng WW, Fung ELW, Yeung WL, et al. Prevalence and characteristics of Chinese patients with Duchenne and Becker muscular dystrophy. Child Neurol Open [Internet]. 2015 May 26 [cited 2021 Feb 22];2(2). Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5417024/

  3. Woodcock IR, Fraser L, Norman P, Pysden K, Manning S, Childs AM. The prevalence of neuromuscular disease in the paediatric population in Yorkshire, UK; variation by ethnicity and deprivation status. Dev Med Child Neurol. 2016;58(8):877–83.

    Article  Google Scholar 

  4. Theadom A, Rodrigues M, Poke G, O’Grady G, Love D, Hammond-Tooke G, et al. A nationwide, population-based prevalence study of genetic muscle disorders. Neuroepidemiology. 2019;52(3–4):128–35.

    Article  Google Scholar 

  5. Labanowski M, Schmidt-Nowara W, Guilleminault C. Sleep and neuromuscular disease: Frequency of sleep-disordered breathing in a neuromuscular disease clinic population. Neurology. 1996;47(5):1173–80.

    Article  CAS  Google Scholar 

  6. Gozal D. Pulmonary manifestations of neuromuscular disease with special reference to Duchenne muscular dystrophy and spinal muscular atrophy. Pediatr Pulmonol. 2000;29(2):141–50.

    Article  CAS  Google Scholar 

  7. Katz SL. Assessment of sleep-disordered breathing in pediatric neuromuscular diseases. Pediatrics. 2009;123(Suppl 4):S222–5.

    Article  Google Scholar 

  8. Aboussouan LS. Sleep-disordered breathing in neuromuscular disease. Am J Respir Crit Care Med. 2015;191(9):979–89.

    Article  Google Scholar 

  9. Gurbani N, Pascoe JE, Katz S, Sawnani H. Sleep disordered breathing: Assessment and therapy in the age of emerging neuromuscular therapies. Pediatr Pulmonol. 2021;56(4):700–9.

    Google Scholar 

  10. LoMauro A, D’Angelo MG, Aliverti A. Sleep disordered breathing in Duchenne muscular dystrophy. Curr Neurol Neurosci Rep. 2017;17(5):44.

    Article  Google Scholar 

  11. Khan Y, Heckmatt JZ. Obstructive apnoeas in Duchenne muscular dystrophy. Thorax. 1994;49(2):157–61.

    Article  CAS  Google Scholar 

  12. Suresh S, Wales P, Dakin C, Harris MA, Cooper DGM. Sleep-related breathing disorder in Duchenne muscular dystrophy: disease spectrum in the paediatric population. J Paediatr Child Health. 2005;41(9–10):500–3.

    Article  Google Scholar 

  13. Simonds AK. Chronic hypoventilation and its management. Eur Respir Rev. 2013;22(129):325–32.

    Article  Google Scholar 

  14. Grychtol R, Abel F, Fitzgerald DA. The role of sleep diagnostics and non-invasive ventilation in children with spinal muscular atrophy. Paediatr Respir Rev. 2018;28:18–25.

    Google Scholar 

  15. Panitch HB. Respiratory implications of pediatric neuromuscular disease. Respir Care. 2017;62(6):23.

    Article  Google Scholar 

  16. Young HK, Lowe A, Fitzgerald DA, Seton C, Waters KA, Kenny E, et al. Outcome of noninvasive ventilation in children with neuromuscular disease. Neurology. 2007;68(3):198–201.

    Article  CAS  Google Scholar 

  17. Chatwin M, Tan HL, Bush A, Rosenthal M, Simonds AK. Long term non-invasive ventilation in children: impact on survival and transition to adult care. PLoS One. 2015;10(5):e0125839.

    Article  Google Scholar 

  18. Mellies U, Ragette R, Schwake CD, Boehm H, Voit T, Teschler H. Longterm noninvasive ventilation in children and adolescents with neuromuscular disorders. Eur Respir J. 2003;22(4):631–6.

    Article  CAS  Google Scholar 

  19. Panitch HB. Respiratory issues in the management of children with neuromuscular disease. Respir Care. 2006;51(8):885–93. discussion 894-895

    Google Scholar 

  20. Aboussouan LS, Mireles-Cabodevila E. Sleep-disordered breathing in neuromuscular disease: diagnostic and therapeutic challenges. Chest. 2017;152(4):880–92.

    Article  Google Scholar 

  21. Tabachnik E, Muller NL, Bryan AC, Levison H. Changes in ventilation and chest wall mechanics during sleep in normal adolescents. J Appl Physiol Respir Environ Exerc Physiol. 1981;51(3):557–64.

    CAS  Google Scholar 

  22. Culebras A. Sleep disorders and neuromuscular disease. Semin Neurol. 2005;25(1):33–8.

    Article  Google Scholar 

  23. Birnkrant DJ, Bushby K, Bann CM, Alman BA, Apkon SD, Blackwell A, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. Lancet Neurol. 2018;17(4):347–61.

    Article  Google Scholar 

  24. Ragette R, Mellies U, Schwake C, Voit T, Teschler H. Patterns and predictors of sleep disordered breathing in primary myopathies. Thorax. 2002;57(8):724–8.

    Article  CAS  Google Scholar 

  25. Dohna-Schwake C, Ragette R, Mellies U, Straub V, Teschler H, Voit T. Respiratory function in congenital muscular dystrophy and limb girdle muscular dystrophy 2I. Neurology. 2004;62(3):513–4.

    Article  CAS  Google Scholar 

  26. Hukins CA, Hillman DR. Daytime predictors of sleep hypoventilation in Duchenne muscular dystrophy. Am J Respir Crit Care Med. 2000;161(1):166–70.

    Article  CAS  Google Scholar 

  27. Hull J, Aniapravan R, Chan E, Chatwin M, Forton J, Gallagher J, et al. British Thoracic Society guideline for respiratory management of children with neuromuscular weakness. Thorax. 2012;67(Suppl 1):i1–40.

    Article  Google Scholar 

  28. Bianchi C, Baiardi P. Cough peak flows: standard values for children and adolescents. Am J Phys Med Rehabil. 2008;87(6):461–7.

    Article  Google Scholar 

  29. Kotwal N, Shukla PJ, Perez GF. Peak cough flow in children with neuromuscular disorders. Lung. 2020;198(2):371–5.

    Article  Google Scholar 

  30. Fishman H, Massicotte C, Li R, Zabih W, McAdam LC, Al-Saleh S, et al. The accuracy of an ambulatory level III sleep study compared to a level I sleep study for the diagnosis of sleep-disordered breathing in children with neuromuscular disease. J Clin Sleep Med. 2018;14(12):2013–20.

    Article  Google Scholar 

  31. Chatwin M, Ross E, Hart N, Nickol AH, Polkey MI, Simonds AK. Cough augmentation with mechanical insufflation/exsufflation in patients with neuromuscular weakness. Eur Respir J. 2003;21(3):502–8.

    Article  CAS  Google Scholar 

  32. Fauroux B, Khirani S, Griffon L, Teng T, Lanzeray A, Amaddeo A. Non-invasive ventilation in children with neuromuscular disease. Front Pediatr. 2020;8:482.

    Article  Google Scholar 

  33. Chatwin M, Bush A, Simonds AK. Outcome of goal-directed non-invasive ventilation and mechanical insufflation/exsufflation in spinal muscular atrophy type I. Arch Dis Child. 2011;96(5):426–32.

    Article  CAS  Google Scholar 

  34. Ward S, Chatwin M, Heather S, Simonds A. Randomised controlled trial of non-invasive ventilation (NIV) for nocturnal hypoventilation in neuromuscular and chest wall disease patients with daytime normocapnia. Thorax. 2005;60(12):1019–24.

    Article  CAS  Google Scholar 

  35. Berry RB, Chediak A, Brown LK, Finder J, Gozal D, Iber C, et al. Best clinical practices for the sleep center adjustment of noninvasive positive pressure ventilation (NPPV) in stable chronic alveolar hypoventilation syndromes. J Clin Sleep Med. 2010;6(5):491–509.

    Article  Google Scholar 

  36. Caldarelli V, Borel JC, Khirani S, Ramirez A, Cutrera R, Pépin JL, et al. Polygraphic respiratory events during sleep with noninvasive ventilation in children: description, prevalence, and clinical consequences. Intensive Care Med. 2013;39(4):739–46.

    Article  Google Scholar 

  37. Gonzalez-Bermejo J, Perrin C, Janssens JP, Pepin JL, Mroue G, Léger P, et al. Proposal for a systematic analysis of polygraphy or polysomnography for identifying and scoring abnormal events occurring during non-invasive ventilation. Thorax. 2012;67(6):546–52.

    Article  CAS  Google Scholar 

  38. Pepin JL, Borel JC, Contal O, Gonzalez-Bermejo J, Rabec C, Tamisier R, et al. Scoring abnormal respiratory events on polysomnography during noninvasive ventilation. Sleep Med Clin. 2014;9(3):327–39.

    Article  Google Scholar 

  39. Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, et al. Nusinersen versus sham control in infantile-onset spinal muscular atrophy. N Engl J Med. 2017;377(18):1723–32.

    Article  CAS  Google Scholar 

  40. LoMauro A, Mastella C, Alberti K, Masson R, Aliverti A, Baranello G. Effect of nusinersen on respiratory muscle function in different subtypes of type 1 spinal muscular atrophy. Am J Respir Crit Care Med. 2019;200(12):1547–50.

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Paediatrics, Faculty of Medicine, The Chinese University of Hong Kong, Shatin, Hong Kong SAR

    Kate Ching-Ching Chan

Authors
  1. Kate Ching-Ching Chan
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Kate Ching-Ching Chan .

Editor information

Editors and Affiliations

  1. Department of Paediatrics, The Chinese University of Hong Kong, Shatin, Hong Kong

    Albert Martin Li

  2. Department of Paediatrics, The Chinese University of Hong Kong, Hong Kong, China

    Kate Ching-ching Chan

Rights and permissions

Reprints and permissions

Copyright information

© 2022 The Author(s), under exclusive license to Springer Nature Singapore Pte Ltd.

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

Chan, K.CC. (2022). Sleep and Neuromuscular Diseases: Management and Use of NIV. In: Li, A.M., Chan, K.Cc. (eds) Paediatric Sleep Disorders. Springer, Singapore. https://doi.org/10.1007/978-981-19-5791-8_19

Download citation

  • DOI: https://doi.org/10.1007/978-981-19-5791-8_19

  • Published:

  • Publisher Name: Springer, Singapore

  • Print ISBN: 978-981-19-5790-1

  • Online ISBN: 978-981-19-5791-8

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation