Predicting obstructive sleep apnea in people with down syndrome

Abstract

Obstructive sleep apnea (OSA) in individuals with Down syndrome is associated with multiple morbidities: systemic and pulmonary hypertension, glucose intolerance, cardiovascular and cerebrovascular disease, and behavioral problems. The prevalence of OSA in this population is very high, with estimates ranging between 55-97%. Currently, an overnight polysomnogram (sleep study) is the gold-standard diagnostic test for patients with Down syndrome. Yet, this testing is cumbersome, poorly tolerated by these children, costly, and not widely available around the country. In this study, we looked to identify predictive factors for OSA in persons with Down syndrome. We enrolled 100 subjects, ages 3-35 years, who already participate in the Down syndrome Program at Boston Children’s Hospital. For each patient, we collected subjective and objective measurements using validated parental survey instruments, standardized physical exams, lateral cephalograms, 3D-digital photogrammetry, and urine samples. Afterwards, all participants underwent standardized polysomnography at the Boston Children’s Hospital Sleep Laboratory where objective measurements were collected on OSA. We analyzed which combination of our assessment methods best predicted OSA, as ultimately determined by polysomnography. This will be the first time presenting the results of our data. Our final screening tool will hopefully allow physicians to avoid ordering polysomnograms for those individuals with Down syndrome at lowest risk of OSA. Further, those patients with Down syndrome and clear predictors for OSA can proceed directly toward adenotonsillectomy, the current treatment.