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Sleep disordered breathing in Bardet-Biedl Syndrome
Jeffrey C Yeung1, Umakanth A Katwa2, Gi Soo Lee1
1Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Harvard University, Boston, MA, United States.
International Journal of Pediatric Otorhinolaryngology
|November 7, 2017
Summary
Sleep disordered breathing (SDB) is common in Bardet-Biedl Syndrome (BBS). Patients with BBS require routine screening for obstructive sleep apnea (OSA) and polysomnography if symptoms are present.
Area of Science:
- Pediatric pulmonology
- Genetics
- Sleep medicine
Background:
- Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive ciliopathy.
- Obesity is a defining characteristic of BBS, increasing the risk of sleep disordered breathing (SDB).
- The specific nature of SDB in BBS patients is not well-documented.
Purpose of the Study:
- To review the institutional experience in assessing and managing SDB in patients with BBS.
- To describe the characteristics and outcomes of SDB in this population.
Main Methods:
- Retrospective chart review at a tertiary care academic pediatric hospital.
- Evaluation of 20 patients with BBS over a 25-year period.
- Analysis of sleep study results and management strategies.
Main Results:
- 18 out of 20 BBS patients exhibited symptoms of SDB.
- A wide spectrum of SDB severity was observed, with AHI ranging from 0-195 events/hour.
- Management included adenotonsillectomy and/or non-invasive positive pressure ventilation.
Conclusions:
- SDB is highly prevalent in BBS patients.
- Routine screening for OSA and polysomnography are recommended for BBS patients.
- Adenotonsillectomy may have a high failure rate in this population, warranting further investigation into diagnostic and treatment approaches.
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