Screening for obstructive sleep apnea in treacher-collins syndrome

Authors

  • Raul G. Plomp MD,

    Corresponding author
    1. Department of Plastic, Reconstructive and Hand Surgery, Erasmus MC, University Medical Center, Rotterdam, The Netherlands
    • Department of Plastic, Reconstructive and Hand Surgery, Erasmus MC, University Medical Center, Room Ee15.89, Postbox 2040, 3000 CA, Rotterdam, The Netherlands
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  • Koen F. M. Joosten MD, PhD,

    1. Department of Pediatrics, Pediatric Intensive Care, Erasmus MC, University Medical Center, Rotterdam, The Netherlands
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  • Eppo B. Wolvius DDS, MD, PhD,

    1. Department of Oral and Maxillofacial Surgery, Erasmus MC, University Medical Center, Rotterdam, The Netherlands
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  • Hans L. J. Hoeve MD, PhD,

    1. Department of Otorhinolaryngology–Head and Neck Surgery, Erasmus MC, University Medical Center, Rotterdam, The Netherlands
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  • Rene M. L. Poublon MD, PhD,

    1. Department of Otorhinolaryngology–Head and Neck Surgery, Erasmus MC, University Medical Center, Rotterdam, The Netherlands
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  • Kees A. G. M. van Montfort PhD,

    1. Department of Medical Statistics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands
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  • Hansje H. Bredero-Boelhouwer NP, ANP,

    1. Department of Plastic, Reconstructive and Hand Surgery, Erasmus MC, University Medical Center, Rotterdam, The Netherlands
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  • Irene M. J. Mathijssen MD, PhD

    1. Department of Plastic, Reconstructive and Hand Surgery, Erasmus MC, University Medical Center, Rotterdam, The Netherlands
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  • 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.

Abstract

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 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. Laryngoscope, 2012

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