Screening for obstructive sleep apnea in treacher-collins syndrome

Raul Plomp, Koen Joosten, Eppo Wolvius, Hans Hoeve, RML Poublon, Kees Montfort, Hansje Boelhouwer, Irene Mathijssen

Research output: Contribution to journalArticleAcademicpeer-review

19 Citations (Scopus)


Objectives/Hypothesis: 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). Study Design: 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 an 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.
Original languageUndefined/Unknown
Pages (from-to)930-934
Number of pages5
Issue number4
Publication statusPublished - 2012

Research programs

  • EMC NIHES-01-50-01-A
  • EMC OR-01-59-01
  • EMC OR-01-62-02
  • EMC OR-02-54-06

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