title: Quality of life and excessive daytime sleepiness in children and adolescents with myotonic dystrophy type 1.
abstract: OBJECTIVE
  Myotonic dystrophy type 1 (DM1) is an autosomal dominant neuromuscular disease with variable severity that affects all ages. Sleepiness is an important co-morbidity affecting a large proportion of paediatric DM1 patients. The current study examined the relationship between sleepiness and quality of life in a paediatric DM1 cohort.
  
  
  METHODS
  A cross-sectional study was conducted in children and adolescents with DM1 attending a multi-disciplinary neuromuscular clinic in a tertiary paediatric centre. The modified Epworth sleepiness scale (ESS), the PedsQL™ quality of life (version 4.0) and neuromuscular modules (version 3.0) were used to measure sleepiness, generic quality of life and neuromuscular-specific quality of life, respectively.
  
  
  RESULTS
  Seventeen current patients with DM1 completed all questionnaires and assessments. Of them, 35.5% had abnormal scores on the modified ESS, which is indicative of excessive daytime sleepiness (EDS). Higher ESS scores were highly significantly related to reduced quality of life in neuromuscular-specific (r = 0.77, p < 0.001) and generic measures (r = 0.78, p < 0.001). EDS was not significantly related to intellectual function or sleep disorders as detected on polysomnography.
  
  
  CONCLUSIONS
  EDS is common in children and adolescents with DM1. It is associated with reduced quality of life and should be routinely assessed. Further studies to develop treatments of EDS in this population are required and may improve overall outcomes.
authors.affiliation: Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine, The University of New South Wales, Sydney 2031, Australia.
authors.forename: Genevieve
authors.initials: G
authors.lastname: Ho
authors.affiliation: Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine, The University of New South Wales, Sydney 2031, Australia; Department of Respiratory Medicine, Sydney Children's Hospital, Randwick, NSW 2031, Australia.
authors.forename: John
authors.initials: J
authors.lastname: Widger
authors.affiliation: Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine, The University of New South Wales, Sydney 2031, Australia; Department of Neurology, Sydney Children's Hospital, Randwick, NSW 2031, Australia.
authors.forename: Michael
authors.initials: M
authors.lastname: Cardamone
authors.affiliation: Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine, The University of New South Wales, Sydney 2031, Australia; Department of Neurology, Sydney Children's Hospital, Randwick, NSW 2031, Australia. Electronic address: m.farrar@unsw.edu.au.
authors.forename: Michelle A
authors.initials: MA
authors.lastname: Farrar
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D006970:Disorders of Excessive Somnolence / Q000453:epidemiology* / Q000523:psychology*; D005260:Female; D006801:Humans; D008297:Male; D009223:Myotonic Dystrophy / Q000150:complications*; D011788:Quality of Life; D011795:Surveys and Questionnaires
keywords: Childhood myotonic dystrophy; Clinical evolution; Clinical manifestations; Excessive daytime sleepiness; Quality of life