Sleep Issues in Pediatric Neuromuscular Disorders

  • Raja Boddepalli
  • Raghav GovindarajanEmail author


The clinical effects surfacing with either hereditary or nonhereditary neuromuscular disorders (NMD) in children have significant impact in terms of morbidity and mortality. Furthermore, the resulting neuromuscular weaknesses of these disorders predispose to sleep-related breathing disorders (SRBD) such as obstructive sleep apnea syndrome (OSAS), hypoventilation, and central sleep apnea. SRBD are very common in neuromuscular disorders and are often overlooked and misdiagnosed. Besides, NMD and OSAS are both prevalent disorders that overlap, thereby making it more challenging in delineating one from the other in deriving its etiology. SRBD become more prominent, severe, and persistent with the progression of underlying NMD. The effects of SRBD on cognition, learning, behavior, and respiratory status demonstrably influence their neurological functioning and quality of life. The strategies in creating awareness and early recognition of these patients benefit in identification of sleep problems and associated SRBD, respiratory complications. Besides, it aids in initiation of early treatment and thereby optimizing quality of life. We review SRBD in children with various NMD, along with assessment tools for early recognition and appropriate cost-effective therapies for treatment.


Pediatric neuromuscular disorders Hypoventilation Non-invasive positive pressure ventilation Muscular dystrophy Spinal muscular atrophy Myotonic dystrophy Limb-girdle muscular dystrophy 

Suggested Reading

  1. Aboussouan LS. Sleep-disordered breathing in neuromuscular disease. Am J Respir Crit Care Med. 2015;191(9):979–89.CrossRefGoogle Scholar
  2. Alves RSC, Resende MBD, Skomro RP, Souza FJFB, Reed UC. Sleep and neuromuscular disorders in children. Sleep Med Rev. 2009;13(2):133–48.CrossRefGoogle Scholar
  3. American Thoracic Society. Standards and indications for cardiopulmonary sleep studies in children. Am J Respir Crit Care Med. 1996;153(2):866–78.CrossRefGoogle Scholar
  4. Arens R, Muzumdar H. Sleep, sleep disordered breathing, and nocturnal hypoventilation in children with neuromuscular diseases. Pediatr Respir Rev. 2010;11(1):24–30.CrossRefGoogle Scholar
  5. Aurora RN, Zak RS, Karippot A, et al. Practice parameters for the respiratory indications for polysomnography in children. Sleep. 2011;34(3):379–88.CrossRefGoogle Scholar
  6. Brouillette RT, Morielli A, Leimanis A, et al. Nocturnal pulse oximetry as an abbreviated testing modality for pediatric obstructive sleep apnea. Pediatrics. 2000;105:405–12.CrossRefGoogle Scholar
  7. Buu MC. Respiratory complications, management and treatments for neuromuscular disease in children. Curr Opin Pediatr. 2017;29(3):326–33.CrossRefGoogle Scholar
  8. Castro-Codesal ML, Dehaan K, Featherstone R, Bedi PK, Martinez Carrasco C, Katz SL, Chan EY, Bendiak GN, Almeida FR, Olmstead DL, Young R, Woolf V, Waters KA, Sullivan C, Hartling L, MacLean JE. Long-term non-invasive ventilation therapies in children: a scoping review. Sleep Med Rev. 2017;37:148–58.CrossRefGoogle Scholar
  9. Chervin RD, Hedger K, Dillon JE, Pituch KJ. Pediatric sleep questionnaire (PSQ): validity and reliability of scales for sleep-disordered breathing, snoring, sleepiness, and behavioral problems. Sleep Med. 2000;1(1):21–32.CrossRefGoogle Scholar
  10. 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. 1999; 116(2):521–34.Google Scholar
  11. Dorris L, et al. Sleep problems in children with neurological disorders. Dev Neurorehabil. 2008;11(2):95–114.CrossRefGoogle Scholar
  12. Frates RC, Splaingard ML, Smith EO, Harrison GM. Outcome of home mechanical ventilation in children. J Pediatr. 1985;106(5):850–6.CrossRefGoogle Scholar
  13. Gonzalez Cortés R, Bustinza Arriortua A, Pons Ódena M, García Teresa MA, Cols Roig M, Gaboli M, et al. Domiciliary mechanical ventilation in children: a Spanish multicenter study. An Pediatr. 2013;78(4):227e33.CrossRefGoogle Scholar
  14. Guilleminault C, Philip P, Robinson A. Sleep and neuromuscular disease: bilevel positive airway pressure by nasal mask as a treatment for sleep disordered breathing in patients with neuromuscular disease. J Neurol Neurosurg Psychiatry. 1998;65(2):225–32.CrossRefGoogle Scholar
  15. Ho G, Widger J, Cardamone M, Farrar MA. Quality of life and excessive daytime sleepiness in children and adolescents with myotonic dystrophy type 1. Sleep Med. 2017;32:92–6.CrossRefGoogle Scholar
  16. Hukins CA, Hillman DR. Daytime predictors of sleep hypoventilation in Duchenne muscular dystrophy. Am J Respir Crit Care Med. 2000;161:166–70.CrossRefGoogle Scholar
  17. ICSD-2. The international classification of sleep disorders, diagnostic and coding manual. 2nd ed. Westchester, IL: AASM; 2005. p. 74e6. [EUA. P. Hauri, Task Force Chair]Google Scholar
  18. Katz SL. Assessment of sleep-disordered breathing in pediatric neuromuscular diseases. Pediatrics. 2009;123(Suppl4):S222–5.CrossRefGoogle Scholar
  19. Katz ES, Greene MG, Carson KA, Galster P, Loughlin GM, Carroll J, et al. Night-to-night variability of polysomnography in children with suspected obstructive sleep apnea. J Pediatr. 2002;140(5):589–94.CrossRefGoogle Scholar
  20. Katz S, Selvadurai H, Keilty K, Mitchell M, MacLusky I. Outcome of non-invasive positive pressure ventilation in paediatric neuromuscular disease. Arch Dis Child. 2004;89(2):121–4.CrossRefGoogle Scholar
  21. Kirk VG, Flemons WW, Adams C, Rimmer KP, Montgomery MD. Sleep-disordered breathing in duchenne muscular dystrophy: a preliminary study of the role of portable monitoring. Pediatr Pulmonol. 2000;29:135–40.CrossRefGoogle Scholar
  22. 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.CrossRefGoogle Scholar
  23. Marcus CL. Sleep-disordered breathing in children. Am J Respir Crit Care Med. 2001;164(1):16–30.CrossRefGoogle Scholar
  24. Mellies U, Ragette R, Schwake C, Boehm H, Voit T, Teschler H. Daytime predictors of sleep disordered breathing in children and adolescents with neuromuscular disorders. Neuromuscul Disord. 2003;13:123e8.CrossRefGoogle Scholar
  25. Mellies U, Dohna-Schwake C, Stehling F, Voit T. Sleep disordered breathing in spinal muscular atrophy. Neuromuscul Disord. 2004;14(12):797–803.CrossRefGoogle Scholar
  26. Messner AH, Pelayo R. Pediatric sleep-related breathing disorders. Am J Otolaryngol. 2000;21(2):98–107. ReviewCrossRefGoogle Scholar
  27. Mindell JA, Owens JA. A clinical guide to pediatric sleep: diagnosis and management of sleep problems. Philadelphia: Lippincott Williams & Wilkins; 2015.Google Scholar
  28. Panitch HB. Respiratory issues in the management of children with neuromuscular disease. Respir Care. 2006;51(8):885e93.Google Scholar
  29. Piper AJ, Sullivan CE. Effects of long-term nocturnal nasal ventilation on spontaneous breathing during sleep in neuromuscular and chest wall disorders. Eur Respir J. 1996;9(7):1515–22.CrossRefGoogle Scholar
  30. Practice parameters for the indications for polysomnography and related Procedures. Polysomnography Task Force, American Sleep Disorders Association Standards of Practice Committee. Sleep. 1997;20(6):406–22. (No authors Listed).Google Scholar
  31. Ragette R, Mellies U, Schwake C, Voit T, Teschler H. Patterns and predictors of sleep disordered breathing in primary myopathies. Thorax. 2002;57(8):724e8.CrossRefGoogle Scholar
  32. Suresh S, Wales P, Dakin C, Harris MA, Cooper DG. Sleep-related breathing disorder in Duchenne muscular dystrophy: disease spectrum in the paediatric population. J Paediatr Child Health. 2005;41:500e3.CrossRefGoogle Scholar
  33. Teague WG. Non-invasive positive pressure ventilation: current status in paediatric patients. Paediatr Respir Rev. 2005;6(1):52–60.CrossRefGoogle Scholar
  34. Thorpy MJ. Classification of sleep disorders. Neurotherapeutics. 2012;9(4):687–701.CrossRefGoogle Scholar
  35. Wise MS, Nichols CD, et al. Executive summary of respiratory indications for polysomnography in children: an evidence-based review. Sleep. 2011;34(3):389–398AW.CrossRefGoogle Scholar
  36. Young HK, Lowe A, Fitzgerald DA, Seton C, Waters KA, Kenny E, Hynan LS, Iannaccone ST, North KN, Ryan MM. Outcome of noninvasive ventilation in children with neuromuscular disease. Neurology. 2007;68(3):198–201.CrossRefGoogle Scholar

Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Academic DepartmentStony Brook University School of MedicineStony BrookUSA
  2. 2.Department of NeurologyUniversity of MissouriColumbiaUSA

Personalised recommendations