0873 OBSTRUCTIVE SLEEP APNEA IN CHILDREN WITH BECKWITH-WIEDEMANN SYNDROME

Abstract

Beckwith-Wiedemann syndrome (BWS) is a rare pediatric overgrowth and cancer predisposition disorder that results in a spectrum of clinical findings. In children with BWS, macroglossia is particularly prominent in those with hypomethylation of the IC2 region of chromosome 11. Infants and children with BWS can have very severe obstructive sleep apnea (OSA), but the prevalence of OSA in this population is poorly understood, as is the relationship between OSA and the BWS genotype/phenotype. We hypothesized that there would be a high prevalence of OSA in children with BWS, and that OSA would be more severe in children with IC2 mutations due to more significant macroglossia. Children with BWS at Children’s Hospital of Philadelphia undergo polysomnography as part of their multidisciplinary evaluation. Medical records from children evaluated from 2006 through November 2016 were reviewed for results from polysomnography, genetic testing, and clinical assessment. Wilcoxon signed-rank test was used to compare apnea hypopnea index (AHI) between age groups. 223 children with BWS were evaluated. Of those, 21 children with BWS who had not previously had treatment for OSA and underwent polysomnography, genetic testing, and clinical assessment were included in the analysis. Median (range) age was 14.7 months (3 days to 6 years) at the time of polysomnography. 11 (52.3%) had an AHI >5/hour. In the cohort, median (range) AHI was 5.5/hour (0 to 80.9/hr). There was a trend toward greater AHI in participants less than 12 months old compared with those 12 months and older (p=0.051). Those with IC2 mutation did not have a greater AHI (p=0.75). There is a high prevalence of OSA in BWS. Infants with BWS may be at the greatest risk for OSA compared to older children. More research is needed to determine the role of genetic factors and macroglossia in OSA in children with BWS. KL2 TR001879, Parker B. Francis Foundation, KO8 CA193915, The Alex’s Lemonade Stand Foundation, St. Baldrick’s Foundation