title: Characterization of sleep disturbance in Cornelia de Lange Syndrome.
abstract: OBJECTIVE
  Prior studies have suggested that sleep disturbance is common in Cornelia de Lange Syndrome (CdLS); however, the nature of this sleep disturbance has not been well characterized. In this study, we evaluate the prevalence of sleep disordered breathing (SDB) and sleepiness in children and young adults with CdLS.
  
  
  METHODS
  Caregivers of 22 patients with CdLS completed 3 validated Pediatric Sleep Questionnaires: the Pediatric Sleep Questionnaire (PSQ), Pediatric Daytime Sleepiness Scale (PDSS), and OSA18.
  
  
  RESULTS
  Both measures of SDB (OSA18 and PSQ) suggest that 35-36% of these patients may have moderate to severe SDB. This is much higher than the general population estimates of 1-4% for SDB with a relative risk of 5.2 (95% CI: 2.8-9.9). Correlation between the OSA18 and PSQ was significant (R=0.67; 95% CI: 0.33-0.85, p=0.0007). Confirming these results among patients with a high probability of SDB (based upon OSA18 scores ≥60), there was a non-significant trend toward increased sleepiness with a relative risk of 2.0 (95% CI: 0.73-5.7, p=0.31) on the PDSS and 2.9 (95% CI: 0.93-9.1, p=0.08) on the PSQ sleepiness scale. In those patients with low probability of SDB (OSA18<60), sleepiness was still seen in 13-29% of patients. Overall 23-35% of participants were characterized as sleepy.
  
  
  CONCLUSIONS
  Sleep disordered breathing and sleepiness appear to be common in CdLS although small sample sizes limit further conclusions. Additional studies with larger sample size and confirmation with polysomnography are needed to further explore the nature and extent of sleep disturbance in this population.
authors.affiliation: Johns Hopkins, Department of Otolaryngology - Head and Neck Surgery, 601 N. Caroline St, 6th Floor, Baltimore, MD 21287, United States.
authors.forename: Rose C
authors.initials: RC
authors.lastname: Stavinoha
authors.forename: Antonie D
authors.initials: AD
authors.lastname: Kline
authors.forename: Howard P
authors.initials: HP
authors.lastname: Levy
authors.forename: Amy
authors.initials: A
authors.lastname: Kimball
authors.forename: Tiffany L
authors.initials: TL
authors.lastname: Mettel
authors.forename: Stacey L
authors.initials: SL
authors.lastname: Ishman
mesh_terms: D000293:Adolescent; D000328:Adult; D017677:Age Distribution; D017028:Caregivers; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D015897:Comorbidity; D003635:De Lange Syndrome / Q000175:diagnosis* / Q000453:epidemiology*; D006970:Disorders of Excessive Somnolence / Q000175:diagnosis / Q000453:epidemiology; D005260:Female; D006801:Humans; D015994:Incidence; D008297:Male; D011379:Prognosis; D017678:Sex Distribution; D012891:Sleep Apnea Syndromes / Q000175:diagnosis / Q000453:epidemiology; D012893:Sleep Wake Disorders / Q000175:diagnosis* / Q000453:epidemiology*; D011795:Surveys and Questionnaires