Sleep disordered breathing (SDB) in patients with Beckwith-Wiedemann syndrome (BWS)

Abstract

Background: BWS is an overgrowth syndrome characterized by variable clinical features, including macroglossia, cleft palate and facial hemi-hyperplasia, associated with an increased risk of SDB. The aim of this study was to determine how commonly SDB was identified in a cohort of patients with BWS in a tertiary service. Methods: This was a retrospective cohort study of all children with BWS, who were referred for a sleep study at Great Ormond Street Hospital between 1997 and 2015. Results: We identified 26 children (17 girls) who were studied at a mean age of 18.6 months. Sixty percent were referred for symptoms of obstructive sleep apnoea (OSA). All studies were conducted in air. We found 8 patients had mild OSA (Apnoea-Hypopnoea Index, AHI 1-5), 8 had moderate (AHI 5-10), 4 had severe (AHI >10) and 6 did not have OSA (AHI OSA was most commonly treated with partial glossectomy (n=12) and/or adenotonsillectomy (n=8). Small numbers precluded statistical comparison of measures before and after surgical intervention. Eight out of ten patients with macroglossia and four out of sixteen with normal tongue had an AHI > 1. Conclusion: Twenty BWS (76.9%) patients had SDB, which was multifactorial in origin, including large tonsils, adenoidal tissue and macroglossia. Based on this and limited other published literature, a structured approach to the management of sleep- related breathing disorders is needed for patients with BWS.