Purpose: Patients with Beckwith-Wiedemann syndrome (BWS), a genetic disorder characterized by macroglossia, abdominal wall malformations, and gigantism, are at risk for sleep-disordered breathing (SDB). SDB is defined by abnormal breathing that is exacerbated during sleep and is a spectrum ranging from apnea of prematurity to obstructive sleep apnea (OSA). The aim of this study is to determine the prevalence of SDB in children with BWS, and to document clinical characteristics and method(s) of treatment.
Methods: This is a retrospective cohort study of children with BWS seen at Boston Children's Hospital between 1979 and 2010. Clinical features, presence, type, treatment, and outcomes of SDB were documented.
Results: The prevalence of SDB in the 118 patients with BWS was 48% (n = 57). This included 16 subjects who had airway obstruction limited to the neonatal period (26%), 26 subjects with snoring or other obstructive symptoms not diagnosed by polysomnography (46%), and 15 patients with OSA confirmed by polysomnography (28%). Macroglossia was not a significant predictor of SDB, although adenotonsillar hypertrophy was (P < 0.001). Laryngomalacia, feeding problems, and gastroesophageal reflux also predicted a higher risk for SDB (P < 0.018). OSA was most commonly treated with partial glossectomy and/or adenotonsillectomy.
Conclusion: The prevalence of SDB in this cohort of patients with BWS was 48%. The etiology of SDB in these patients is multifactorial and may not be solely the result of a large tongue. Further information as to the site(s) of airway obstruction in patients with BWS will help guide treatment strategies.