title: Screening for obstructive sleep apnea in Treacher-Collins syndrome.
abstract: OBJECTIVE
  This study evaluated the accuracy of established obstructive sleep apnea syndrome (OSAS) questionnaires based on presenting symptoms and complaints as screening tools for OSAS in Treacher-Collins syndrome (TCS).
  
  
  METHODS
  Cross-sectional cohort study.
  
  
  METHODS
  In 35 TCS patients (13 children, 22 adults) in whom diagnostic polysomnographic results on OSAS were available, the Brouillette score was evaluated in children and the Epworth Sleepiness Scale in adults.
  
  
  RESULTS
  The total Brouillette score showed a sensitivity of 50%, specificity of 71%, and positive and negative predictive values of 60% and 63%, respectively. The answer "No" to the question as to whether a child snored could rule out OSAS in children, and showed positive and negative predictive values of 55% and 100%, respectively. The Epworth Sleepiness Scale showed a sensitivity of 0%, specificity of 92%, and positive and negative predictive values of 0% and 57%, respectively. A positive answer to the question of whether a person falls asleep while sitting and talking to someone (sometimes or more) was able to predict OSAS in adults; this question had positive and negative predictive values of 100% and 72%, respectively.
  
  
  CONCLUSIONS
  This cross-sectional cohort study showed that the Brouillette score and the Epworth Sleepiness Scale are of minimal usefulness in TCS. Diagnosis of OSAS based solely on complaints is not reliable, probably due to habituation. Therefore, for a good evaluation and optimal multidisciplinary treatment of this chronic disease in TCS, all newly referred pediatric and adult TCS patients should be screened for OSAS at least once with polysomnography.
authors.affiliation: Department of Plastic, Reconstructive and Hand Surgery, Erasmus MC, University Medical Center, Rotterdam, The Netherlands. r.plomp@erasmusmc.nl
authors.forename: Raul G
authors.initials: RG
authors.lastname: Plomp
authors.forename: Koen F M
authors.initials: KF
authors.lastname: Joosten
authors.forename: Eppo B
authors.initials: EB
authors.lastname: Wolvius
authors.forename: Hans L J
authors.initials: HL
authors.lastname: Hoeve
authors.forename: Rene M L
authors.initials: RM
authors.lastname: Poublon
authors.forename: Kees A G M
authors.initials: KA
authors.lastname: van Montfort
authors.forename: Hansje H
authors.initials: HH
authors.lastname: Bredero-Boelhouwer
authors.forename: Irene M J
authors.initials: IM
authors.lastname: Mathijssen
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D005260:Female; D006801:Humans; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000150:complications* / Q000453:epidemiology; D008403:Mass Screening / Q000379:methods*; D008875:Middle Aged; D009426:Netherlands / Q000453:epidemiology; D017286:Polysomnography; D015995:Prevalence; D012189:Retrospective Studies; D012307:Risk Factors; D020181:Sleep Apnea, Obstructive / Q000175:diagnosis / Q000453:epidemiology* / Q000209:etiology; D011795:Surveys and Questionnaires; D055815:Young Adult