title: Sleep-related breathing in children with mucopolysaccharidosis.
abstract: BACKGROUND
  The mucopolysaccharidoses (MPSs), a group of genetic lysosomal storage disorders, are associated with significant morbidity. Secondarily to specific associated anatomical abnormalities, MPS is associated with sleep disordered breathing (SDB), specifically obstructive sleep apnoea (OSA) that may confer additional morbidity. Few studies have examined SDB in children with MPS using full polysomnography (PSG) and thus the exact prevalence and severity of SDB is unknown. Further, successful treatments for SDB in this population have not been explored.
  
  
  OBJECTIVE
  This study evaluated both SDB and the efficacy of treatments offered to children with MPS using PSG data.
  
  
  METHODS
  A retrospective chart review was conducted on all children with MPS and a history of suspected OSA who were referred to the Hospital for Sick Children, Toronto. Both baseline and follow up treatment PSG data were analysed. PSG data recorded included obstructive apnoea-hypopnoea index (OAHI) and central apnoea index (CAI).
  
  
  RESULTS
  Fourteen patients (10 male) underwent a baseline PSG. Three of 14 children on ERT were excluded from the main analyses. The median (range) baseline parameters of the population (n = 11) were recorded. The age was 5.2 years (0.8-17.8) and the body mass index (BMI) was 19.9 (13.7-22.2). The OAHI was 6.6 (0.0-54.8); the CAI was 0.6 (0.0-2.6). Seven of 11 (64%) had evidence for OSA and 3/7 children were classified as having severe OSA (OAHI > 10). Of these, 5/7 children underwent treatment for OSA with 3/5 children showing a significant reduction in their OAHI. Further, the 2 patients on ERT therapy with OSA were also both successfully treated.
  
  
  CONCLUSIONS
  Children with MPS have a high prevalence of significant OSA and thus should be carefully screened for OSA using full polysomnography and treated accordingly.
authors: The Hospital for Sick Children, Ontario, Canada.
authors: A
authors: A
authors: Nashed
authors: S
authors: S
authors: Al-Saleh
authors: J
authors: J
authors: Gibbons
authors: I
authors: I
authors: MacLusky
authors: J
authors: J
authors: MacFarlane
authors: A
authors: A
authors: Riekstins
authors: J
authors: J
authors: Clarke
authors: I
authors: I
authors: Narang
mesh_terms: D000085:Acetates / Q000627:therapeutic use; D000293:Adolescent; D018927:Anti-Asthmatic Agents / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D003521:Cyclopropanes; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009083:Mucopolysaccharidoses / Q000150:complications* / Q000453:epidemiology / Q000503:physiopathology / Q000628:therapy; D017286:Polysomnography; D011175:Positive-Pressure Respiration; D015995:Prevalence; D011804:Quinolines / Q000627:therapeutic use; D012119:Respiration; D012189:Retrospective Studies; D012890:Sleep / Q000502:physiology; D012891:Sleep Apnea Syndromes / Q000150:complications* / Q000453:epidemiology / Q000503:physiopathology / Q000628:therapy; D013440:Sulfides; D014068:Tonsillectomy / Q000379:methods; D016896:Treatment Outcome
chemical_list: D000085:Acetates; D018927:Anti-Asthmatic Agents; D003521:Cyclopropanes; D011804:Quinolines; D013440:Sulfides; C093875:montelukast