Download PDF
Journal of Pediatric Biochemistry 2016; 06(04): 191-198
DOI: 10.1055/s-0037-1601559
Review Article
Georg Thieme Verlag KG Stuttgart · New York

Sleep in Children with Neuromuscular Diseases

Alessandro Onofri
1   Department of Molecular and Clinical Medicine, Faculty of Psycology, Sapienza University of Rome, Unit of Pneumology, Sant'Andrea Hospital, Rome, Italy
,
Elisabetta Verrillo
2   Respiratory Unit, University Department of Pediatrics (DPUO), Bambino Gesù Children's Hospital, Rome, Italy
,
Renato Cutrera
2   Respiratory Unit, University Department of Pediatrics (DPUO), Bambino Gesù Children's Hospital, Rome, Italy
› Author Affiliations
Further Information

Publication History

19 February 2017

04 March 2017

Publication Date:
04 April 2017 (online)

    Permissions and Reprints

Abstract

Neuromuscular diseases are a heterogeneous group of diseases affecting the nerves, muscles, anterior horn cells, or the neuromuscular junctions. They cause muscular weakness and, in most cases, involve the respiratory system, with a variable course that can lead to respiratory failure. Sleep disorders are often present in these patients, and their evaluation is necessary to assess the requirements for correct management. Hypoventilation, obstructive sleep apnea, and central apneas must be assessed and eventually treated with mechanical ventilatory support. Polysomnography with capnography is the gold standard in assessing sleep-disordered breathing. This review aims to provide an overview of the literature on the most common neuromuscular diseases with related sleep breathing disorders in children, highlighting the main features of sleep in these patients and the role of noninvasive ventilation in treating these conditions.

Keywords

neuromuscular diseases - sleep-disordered breathing - polysomnography - sleep related hypoventilation - obstructive sleep apnea - noninvasive ventilation
 

  • References

  • 1 Howard RS, Wiles CM, Hirsch NP, Spencer GT. Respiratory involvement in primary muscle disorders: assessment and management. Q J Med 1993; 86 (3) 175-189
    PubMedGoogle Scholar
  • 2 Perrin C, Unterborn JN, Ambrosio CD, Hill NS. Pulmonary complications of chronic neuromuscular diseases and their management. Muscle Nerve 2004; 29 (1) 5-27
    CrossrefPubMedGoogle Scholar
  • 3 Wiggs L, Stores G. Severe sleep disturbance and daytime challenging behaviour in children with severe learning disabilities. J Intellect Disabil Res 1996; 40 (Pt 6): 518-528
    CrossrefPubMedGoogle Scholar
  • 4 Hull J, Aniapravan R, Chan E , et al. British Thoracic Society guideline for respiratory management of children with neuromuscular weakness. Thorax 2012; 67 (Suppl. 01) i1-i40
    CrossrefPubMedGoogle Scholar
  • 5 Swoboda KJ, Prior TW, Scott CB , et al. Natural history of denervation in SMA: relation to age, SMN2 copy number, and function. Ann Neurol 2005; 57 (5) 704-712
    CrossrefPubMedGoogle Scholar
  • 6 Coyne I, Prizeman G, Sheehan A, Malone H, While AE. An e-health intervention to support the transition of young people with long-term illnesses to adult healthcare services: design and early use. Patient Educ Couns 2016; 99 (9) 1496-1504
    CrossrefPubMedGoogle Scholar
  • 7 Verrillo E, Bruni O, Pavone M , et al. Sleep architecture in infants with spinal muscular atrophy type 1. Sleep Med 2014; 15 (10) 1246-1250
    CrossrefPubMedGoogle Scholar
  • 8 Verrillo E, Pavone M, Bruni O , et al. Sleep architecture in children with spinal muscular atrophy type 2. Sleep Med 2016; 20: 1-4
    CrossrefPubMedGoogle Scholar
  • 9 Testa MB, Pavone M, Bertini E, Petrone A, Pagani M, Cutrera R. Sleep-disordered breathing in spinal muscular atrophy types 1 and 2. Am J Phys Med Rehabil 2005; 84 (9) 666-670
    CrossrefPubMedGoogle Scholar
  • 10 Ryan MM. The use of invasive ventilation is appropriate in children with genetically proven spinal muscular atrophy type 1: the motion against. Paediatr Respir Rev 2008; 9 (1) 51-54 , discussion 55–56
    CrossrefPubMedGoogle Scholar
  • 11 Bach JR, Saltstein K, Sinquee D, Weaver B, Komaroff E. Long-term survival in Werdnig-Hoffmann disease. Am J Phys Med Rehabil 2007; 86 (5) 339-345 , quiz 346–348, 379
    CrossrefPubMedGoogle Scholar
  • 12 Wang CH, Finkel RS, Bertini ES , et al; Participants of the International Conference on SMA Standard of Care. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol 2007; 22 (8) 1027-1049
    CrossrefPubMedGoogle Scholar
  • 13 Petrone A, Pavone M, Testa MB, Petreschi F, Bertini E, Cutrera R. Noninvasive ventilation in children with spinal muscular atrophy types 1 and 2. Am J Phys Med Rehabil 2007; 86 (3) 216-221
    CrossrefPubMedGoogle Scholar
  • 14 Mellies U, Dohna-Schwake C, Stehling F, Voit T. Sleep disordered breathing in spinal muscular atrophy. Neuromuscul Disord 2004; 14 (12) 797-803
    CrossrefPubMedGoogle Scholar
  • 15 Simonds AK. Respiratory support for the severely handicapped child with neuromuscular disease: ethics and practicality. Semin Respir Crit Care Med 2007; 28 (3) 342-354
    Article in Thieme ConnectPubMedGoogle Scholar
  • 16 Vanoli F, Rinchetti P, Porro F, Parente V, Corti S. Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1. J Cell Mol Med 2015; 19 (9) 2058-2066
    CrossrefPubMedGoogle Scholar
  • 17 Giannini A, Pinto AM, Rossetti G , et al. Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1. Intensive Care Med 2006; 32 (11) 1851-1855
    CrossrefPubMedGoogle Scholar
  • 18 Falzarano MS, Scotton C, Passarelli C, Ferlini A. Duchenne muscular dystrophy: from diagnosis to therapy. Molecules 2015; 20 (10) 18168-18184
    CrossrefPubMedGoogle Scholar
  • 19 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 (9–10): 500-503
    CrossrefPubMedGoogle Scholar
  • 20 Sawnani H, Thampratankul L, Szczesniak RD, Fenchel MC, Simakajornboon N. Sleep disordered breathing in young boys with Duchenne muscular dystrophy. J Pediatr 2015; 166 (3) 640-645.e1
    CrossrefPubMedGoogle Scholar
  • 21 Hoque R. Sleep-disordered breathing in Duchenne muscular dystrophy: an assessment of the literature. J Clin Sleep Med 2016; 12 (6) 905-911
    PubMedGoogle Scholar
  • 22 Finder JD, Birnkrant D, Carl J , et al; American Thoracic Society. Respiratory care of the patient with Duchenne muscular dystrophy: ATS consensus statement. Am J Respir Crit Care Med 2004; 170 (4) 456-465
    CrossrefPubMedGoogle Scholar
  • 23 Villanova M, Brancalion B, Mehta AD. Duchenne muscular dystrophy: life prolongation by noninvasive ventilatory support. Am J Phys Med Rehabil 2014; 93 (7) 595-599
    CrossrefPubMedGoogle Scholar
  • 24 Ishikawa Y, Miura T, Ishikawa Y , et al. Duchenne muscular dystrophy: survival by cardio-respiratory interventions. Neuromuscul Disord 2011; 21 (1) 47-51
    CrossrefPubMedGoogle Scholar
  • 25 Raphael JC, Chevret S, Chastang C, Bouvet F ; French Multicentre Cooperative Group on Home Mechanical Ventilation Assistance in Duchenne de Boulogne Muscular Dystrophy. Randomised trial of preventive nasal ventilation in Duchenne muscular dystrophy. Lancet 1994; 343 (8913): 1600-1604
    CrossrefPubMedGoogle Scholar
  • 26 Bonne G, Leturcq F, Ben Yaou R. Emery-Dreifuss muscular dystrophy. Pagon RA, Adam MP, Ardinger HH. , et al. GeneReviews® [Internet]. Seattle, WA: University of Washington; 1993-2017 2004. Sep 29 [updated 2015 Nov 25]
    Google Scholar
  • 27 Falsaperla R, Praticò AD, Ruggieri M , et al. Congenital muscular dystrophy: from muscle to brain. Ital J Pediatr 2016; 42 (1) 78 DOI: 10.1186/s13052-016-0289-9.
    CrossrefPubMedGoogle Scholar
  • 28 Bönnemann CG, Wang CH, Quijano-Roy S , et al; Members of International Standard of Care Committee for Congenital Muscular Dystrophies. Diagnostic approach to the congenital muscular dystrophies. Neuromuscul Disord 2014; 24 (4) 289-311
    CrossrefPubMedGoogle Scholar
  • 29 Alves RS, Resende MB, Skomro RP, Souza FJ, Reed UC. Sleep and neuromuscular disorders in children. Sleep Med Rev 2009; 13 (2) 133-148
    CrossrefPubMedGoogle Scholar
  • 30 Pinard JM, Azabou E, Essid N, Quijano-Roy S, Haddad S, Cheliout-Héraut F. Sleep-disordered breathing in children with congenital muscular dystrophies. Eur J Paediatr Neurol 2012; 16 (6) 619-624
    CrossrefPubMedGoogle Scholar
  • 31 Wang CH, Bonnemann CG, Rutkowski A , et al; International Standard of Care Committee for Congenital Muscular Dystrophy. Consensus statement on standard of care for congenital muscular dystrophies. J Child Neurol 2010; 25 (12) 1559-1581
    CrossrefPubMedGoogle Scholar
  • 32 Sewry CA, Wallgren-Pettersson C. Myopathology in congenital myopathies. Neuropathol Appl Neurobiol 2017; 43 (1) 5-23
    PubMedGoogle Scholar
  • 33 Dubowitz V, Sewry CA, Oldfors A. Muscle Biopsy: A Practical Approach. 4th ed. Oxford, UK: Elsevier; 2013
    Google Scholar
  • 34 North KN, Wang CH, Clarke N , et al; International Standard of Care Committee for Congenital Myopathies. Approach to the diagnosis of congenital myopathies. Neuromuscul Disord 2014; 24 (2) 97-116
    CrossrefPubMedGoogle Scholar
  • 35 Sasaki M, Takeda M, Kobayashi K, Nonaka I. Respiratory failure in nemaline myopathy. Pediatr Neurol 1997; 16 (4) 344-346
    CrossrefPubMedGoogle Scholar
  • 36 Smith BK, Goddard M, Childers MK. Respiratory assessment in centronuclear myopathies. Muscle Nerve 2014; 50 (3) 315-326
    CrossrefPubMedGoogle Scholar
  • 37 Hahn C, Salajegheh MK. Myotonic disorders: a review article. Iran J Neurol 2016; 15 (1) 46-53
    PubMedGoogle Scholar
  • 38 Yu H, Laberge L, Jaussent I , et al. Daytime sleepiness and REM sleep characteristics in myotonic dystrophy: a case-control study. Sleep 2011; 34 (2) 165-170
    CrossrefPubMedGoogle Scholar
  • 39 Romigi A, Albanese M, Liguori C, Placidi F, Marciani MG, Massa R. Sleep-wake cycle and daytime sleepiness in the myotonic dystrophies. J Neurodegener Dis 2013; 2013: 692026 DOI: 10.1155/2013/692026.
    PubMedGoogle Scholar
  • 40 Romigi A, Izzi F, Pisani V , et al. Sleep disorders in adult-onset myotonic dystrophy type 1: a controlled polysomnographic study. Eur J Neurol 2011; 18 (9) 1139-1145
    CrossrefPubMedGoogle Scholar
  • 41 Ono S, Kanda F, Takahashi K , et al. Neuronal loss in the medullary reticular formation in myotonic dystrophy: a clinicopathological study. Neurology 1996; 46 (1) 228-231
    CrossrefPubMedGoogle Scholar
  • 42 Banach M, Antczak J, Rola R. Association of peripheral neuropathy with sleep-related breathing disorders in myotonic dystrophies. Neuropsychiatr Dis Treat 2017; 13: 133-140
    CrossrefPubMedGoogle Scholar
  • 43 Abicht A, Müller JS, Lochmüller H. Congenital myasthenic syndromes. Pagon RA, Adam MP, Ardinger HH. GeneReviews® [Internet]. Seattle, WA: University of Washington; 1993-2017 2003. May 9 [updated 2016 Jul 14]
    Google Scholar
  • 44 Iannaccone ST, Mills JK, Harris KM, Herman JH, Schochet P, Luckett P. Congenital myasthenic syndrome with sleep hypoventilation. Muscle Nerve 2000; 23 (7) 1129-1132
    CrossrefPubMedGoogle Scholar
  • 45 Kinali M, Beeson D, Pitt MC , et al. Congenital myasthenic syndromes in childhood: diagnostic and management challenges. J Neuroimmunol 2008; 201–202: 6-12
    PubMedGoogle Scholar
  • 46 Pitceathly RD, McFarland R. Mitochondrial myopathies in adults and children: management and therapy development. Curr Opin Neurol 2014; 27 (5) 576-582
    CrossrefPubMedGoogle Scholar
  • 47 Barreto LC, Oliveira FS, Nunes PS , et al. Epidemiologic study of Charcot-Marie-Tooth disease: a systematic review. Neuroepidemiology 2016; 46 (3) 157-165
    CrossrefPubMedGoogle Scholar
  • 48 Boentert M, Knop K, Schuhmacher C, Gess B, Okegwo A, Young P. Sleep disorders in Charcot-Marie-Tooth disease type 1. J Neurol Neurosurg Psychiatry 2014; 85 (3) 319-325
    CrossrefPubMedGoogle Scholar
  • 49 de Carvalho Alcântara M, Nogueira-Barbosa MH, Fernandes RM , et al; de CarvalhoAlcântara M. Respiratory dysfunction in Charcot-Marie-Tooth disease type 1A. J Neurol 2015; 262 (5) 1164-1171
    CrossrefPubMedGoogle Scholar
  • 50 Lim JA, Li L, Raben N. Pompe disease: from pathophysiology to therapy and back again. Front Aging Neurosci 2014; 6: 177 DOI: 10.3389/fnagi.2014.00177.
    CrossrefPubMedGoogle Scholar
  • 51 Mellies U, Ragette R, Schwake C, Baethmann M, Voit T, Teschler H. Sleep-disordered breathing and respiratory failure in acid maltase deficiency. Neurology 2001; 57 (7) 1290-1295
    CrossrefPubMedGoogle Scholar
  • 52 Kansagra S, Austin S, DeArmey S, Kishnani PS, Kravitz RM. Polysomnographic findings in infantile Pompe disease. Am J Med Genet A 2013; 161A (12) 3196-3200
    PubMedGoogle Scholar
  • 53 Boentert M, Karabul N, Wenninger S , et al. Sleep-related symptoms and sleep-disordered breathing in adult Pompe disease. Eur J Neurol 2015; 22 (2) 369-376 , e27
    CrossrefPubMedGoogle Scholar
  • 54 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 (2) 135-140
    CrossrefPubMedGoogle Scholar
  • 55 Berry RB, Chediak A, Brown LK , et al; NPPV Titration Task Force of the American Academy of Sleep Medicine. 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
    PubMedGoogle Scholar
  • 56 Aboussouan LS. Sleep-disordered breathing in neuromuscular disease. Am J Respir Crit Care Med 2015; 191 (9) 979-989
    CrossrefPubMedGoogle Scholar
  • 57 Simonds AK. Chronic hypoventilation and its management. Eur Respir Rev 2013; 22 (129) 325-332
    CrossrefPubMedGoogle Scholar
  • 58 Katz SL, Gaboury I, Keilty K , et al. Nocturnal hypoventilation: predictors and outcomes in childhood progressive neuromuscular disease. Arch Dis Child 2010; 95 (12) 998-1003
    CrossrefPubMedGoogle Scholar
  • 59 Bersanini C, Khirani S, Ramirez A , et al. Nocturnal hypoxaemia and hypercapnia in children with neuromuscular disorders. Eur Respir J 2012; 39 (5) 1206-1212
    CrossrefPubMedGoogle Scholar
  • 60 Ward S, Chatwin M, Heather S, Simonds AK. 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) 1019-1024
    CrossrefPubMedGoogle Scholar
  • 61 Racca F, Bonati M, Del Sorbo L , et al. Invasive and non-invasive long-term mechanical ventilation in Italian children. Minerva Anestesiol 2011; 77 (9) 892-901
    PubMedGoogle Scholar
  • 62 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 DOI: 10.1371/journal.pone.0125839.
    CrossrefPubMedGoogle Scholar