title: Relationship of sleep to pulmonary function in mucopolysaccharidosis II.
abstract: OBJECTIVE
  To study the sleep characteristics, pulmonary function, and their relationships in an enzyme naive population of patients with mucopolysaccharidoses (MPS) II (Hunter syndrome).
  
  
  METHODS
  The analyzed subjects (30 patients with MPS II with a median age of 9 years) had been enrolled in an MPS II natural history study and a phase I/II enzyme replacement clinical study in which they underwent standard polysomnography including spirometry and plethysmography, if cooperative. Descriptive statistics and nonparametric correlation were performed for demographic, sleep, and pulmonary function variables.
  
  
  RESULTS
  Median apnea-hypopnea index was 6.4, with obstructive sleep apnea observed in 27/30 subjects. Sleep architecture was characterized by diminished rapid-eye movement sleep duration (median 13%), and decline in sleep efficiency and slow-wave sleep duration in older individuals. Oxygen desaturation below 90% occurred in 26/30 subjects, and hypoventilation above 50 Torr occurred in 11/23 subjects with accurate end-tidal carbon dioxide recordings. Of 15 subjects with reliable spirometry, median forced expiratory volume in 1 second was below 80% predicted in 12/15 subjects. Forced expiratory volume in 1 second in percent-predicted was inversely related to apnea-hypopnea index and increase from baseline end-tidal carbon dioxide (P=.023, rs=-0.58), (P<.001, rs=-0.82).
  
  
  CONCLUSIONS
  Sleep in MPS II is characterized by obstructive sleep apnea, altered sleep architecture, and impaired gas exchange. Sleep disruption is related to daytime pulmonary function, thus both systems should be evaluated when sleep abnormalities are suspected.
authors.affiliation: Division of Pulmonology, Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-7217, USA. wwooten@med.unc.edu
authors.forename: William I
authors.initials: WI
authors.lastname: Wooten
authors.forename: Joseph
authors.initials: J
authors.lastname: Muenzer
authors.forename: Bradley V
authors.initials: BV
authors.lastname: Vaughn
authors.forename: Marianne S
authors.initials: MS
authors.lastname: Muhlebach
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D006801:Humans; D008168:Lung / Q000503:physiopathology*; D008297:Male; D016532:Mucopolysaccharidosis II / Q000150:complications / Q000503:physiopathology*; D010991:Plethysmography; D017286:Polysomnography; D012890:Sleep / Q000502:physiology*; D020181:Sleep Apnea, Obstructive / Q000453:epidemiology* / Q000503:physiopathology; D013147:Spirometry; D055815:Young Adult