Jeffrey C Yeung1, Umakanth A Katwa2, Gi Soo Lee3. 1. Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Harvard University, Boston, MA, United States. Electronic address: jeffrey.yeung@childrens.harvard.edu. 2. Department of Medicine, Division of Respiratory Diseases, Boston Children's Hospital, Harvard University, Boston, MA, United States. 3. Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Harvard University, Boston, MA, United States.
Abstract
INTRODUCTION: Bardet-Biedl Syndrome (BBS) is an autosomal recessive ciliopathy, and obesity is among its defining characteristics. Consequently, the incidence of sleep disordered breathing (SDB) in this population is expected to be high. Due to its relative rarity, the nature of SDB in this population is poorly described. The objective of this study was to review a single institutional experience in the assessment and management of SDB in patients with BBS. METHODS: Retrospective chart review of tertiary care, academic pediatric hospital. RESULTS: 20 patients with BBS were evaluated over a 25-year period. Median age at initial consultation was 69 months; half of these patients were referred before the diagnosis of BBS was made. Eighteen of twenty patients had symptoms of sleep-disordered breathing. Median follow-up duration was 17.5 months. 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. CONCLUSIONS: SDB is commonly seen in 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, is expected to be high. Further investigation into the role of ancillary diagnostic testing is still needed.
INTRODUCTION:Bardet-Biedl Syndrome (BBS) is an autosomal recessive ciliopathy, and obesity is among its defining characteristics. Consequently, the incidence of sleep disordered breathing (SDB) in this population is expected to be high. Due to its relative rarity, the nature of SDB in this population is poorly described. The objective of this study was to review a single institutional experience in the assessment and management of SDB in patients with BBS. METHODS: Retrospective chart review of tertiary care, academic pediatric hospital. RESULTS: 20 patients with BBS were evaluated over a 25-year period. Median age at initial consultation was 69 months; half of these patients were referred before the diagnosis of BBS was made. Eighteen of twenty patients had symptoms of sleep-disordered breathing. Median follow-up duration was 17.5 months. 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. CONCLUSIONS: SDB is commonly seen in 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, is expected to be high. Further investigation into the role of ancillary diagnostic testing is still needed.
Authors: Jeremy Pomeroy; Anthony D Krentz; Jesse G Richardson; Richard L Berg; Jeffrey J VanWormer; Robert M Haws Journal: Pediatr Obes Date: 2020-07-22 Impact factor: 4.000
Authors: Jeremy Pomeroy; Jeffrey J VanWormer; Jill R Meilahn; Tara Maki; Hema R Murali; Robert M Haws Journal: Orphanet J Rare Dis Date: 2021-06-14 Impact factor: 4.123