Abstract
Introduction
Specialized health care guidelines for children with Down Syndrome (DS) published by the American Academy of Pediatrics (AAP) provided specific recommendations based on the higher risk needs of individuals with DS. Obstructive sleep apnea (OSA) is reported to be present in 50–79% of individuals with DS. According to the AAP guideline, all individuals with DS should have a polysomnography (PSG) evaluating for OSA by 4 years old and then screened by history and physical exam annually thereafter. An interim analysis of an ongoing Down Syndrome Research study was evaluated to determine rate of adherence to these guidelines.
Methods
The Dimensional, Sleep, and Genomic Analyses of Down Syndrome to Elucidate Phenotypic Variability study enrolled down syndrome patients 30 months and older, as well as first degree relatives to participate. Patients completed a standardized clinical sleep interview, childhood sleep habits questionnaire and was asked to complete 2 week sleep diary, actigraphy and polysomnography. We aimed to characterize the rate of PSG completion by 4 years of age, number of research PSGs completed and rate of OSA identified on research PSG.
Results
A total of 31 patients were consented. The median patient age was 10 years old with a slight female predominance (15F:12M). 27 patients completed the sleep interview and 19 successfully completed a scorable polysomnography. Only 7 patients had completed a PSG previously by age of 4 years. 11 of 19 studies demonstrated obstructive sleep apnea ranging from mild to severe severity (1.7–42.5/hr). REM AHI (range 1.2–58.2/hr, mean 19/hr and median 12.3/hr) demonstrated increased severity.
Conclusion
Despite AAP guidelines recommending universal PSG evaluation by the age of 4 years of age, only 26% of patients interviewed has a PSG successfully completed previously. Additional recommendations by AAP include yearly surveillance of symptoms although there is poor correlation between parent report and polysomnogram results. Of the 19 research completed PSGs, 58% demonstrated OSA with the mean and median results consistent with moderate to severe OSA and worsening during REM sleep. Improved effort to successfully obtain PSG in this population is needed. Further study is ongoing to evaluate the relationship to other health and cognitive outcomes.
Support (if any)
NIMH
3D Avatar Approach for Continuous Sign Movement Using Speech/Text
