Yeung JC, et al. - This study focused on the assessment and management of sleep disordered breathing (SDB) in patients with Bardet-Biedl Syndrome (BBS). SDB was commonly seen in patients with BBS. These patients should be routinely screened for OSA and if present, a polysomnogram should be obtained. Based on patient characteristics, the failure rate of primary surgical intervention, namely adenotonsillectomy, was expected to be high. However, further investigation was required to determine the role of ancillary diagnostic testing.

Methods

• Retrospective chart review of tertiary care, academic pediatric hospital.

Results

• In this study, 20 patients with BBS were evaluated over a 25-year period.
• 69 months was the median age at initial consultation.
• Half of these patients were referred before the diagnosis of BBS was made.
• 18 out of 20 patients had symptoms of sleep-disordered breathing.
• 17.5 months was the median follow-up duration.
• A wide range of polysomnographic outcomes was observed, including obstructive apnea-hypopnea indexes of 0–195 events/hour.
• Patients were managed with adenotonsillectomy and/or non-invasive positive pressure ventilation.