This study was supported by the Nuts-Ohra Foundation (a Dutch health insurance organization) and the Carolien Bijl Foundation (a foundation for research on craniofacial malformations). These organizations had no involvement in the study design, in the collection and interpretation of data, in the writing of the manuscript, and/or the decision to submit the manuscript for publication. The authors have no other funding, financial relationships, or conflicts of interest to disclose.
Screening for obstructive sleep apnea in treacher-collins syndrome†
Article first published online: 28 FEB 2012
Copyright © 2012 The American Laryngological, Rhinological, and Otological Society, Inc.
Volume 122, Issue 4, pages 930–934, April 2012
How to Cite
Plomp, R. G., Joosten, K. F. M., Wolvius, E. B., Hoeve, H. L. J., Poublon, R. M. L., van Montfort, K. A. G. M., Bredero-Boelhouwer, H. H. and Mathijssen, I. M. J. (2012), Screening for obstructive sleep apnea in treacher-collins syndrome. The Laryngoscope, 122: 930–934. doi: 10.1002/lary.23187
- Issue published online: 20 MAR 2012
- Article first published online: 28 FEB 2012
- Manuscript Accepted: 12 DEC 2011
- Manuscript Received: 5 SEP 2011
- Treacher-Collins syndrome;
- obstructive sleep apnea;
- Epworth Sleepiness Scale;
- Brouillette score;
- Level of Evidence: 2b
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).
Cross-sectional cohort study.
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.
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.
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. Laryngoscope, 2012