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 pilot project, we propose to identify predictive factors for OSA in persons with Down syndrome. By doing so, we will provide the foundation for establishing an effective, reliable, and user-friendly tool to screen for OSA in individuals with Down syndrome without needing a polysomnogram. We will enroll 100 subjects, ages 3-18 years, who already participate in the Down syndrome program at Children's Hospital Boston. For each patient, we will collect subjective and objective measurements using validated parental survey instruments, standardized physical exams, lateral cephalograms, 3D-digital photogrammetry, and urine samples. Afterwards, all participants will undergo standardized polysomnography at the Children's Hospital Boston Sleep Laboratory where objective measurements will be collected on OSA. We will analyze which combination of our assessment methods predicts OSA as ultimately determined by polysomnography. Our screening tool will 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.
This pilot study will lay the groundwork for significant change in the healthcare management of patients with Down syndrome, ages 3-18. Ultimately, we will develop an important and useful tool for all pediatricians: one that will identify (1) a set of individuals with Down syndrome who have signs and symptoms of obstructive sleep apnea who could bypass sleep studies and proceed directly to adenotonsillectomy, the generally accepted first-line surgical treatment, and (2) a set of patients who are at such low risk for obstructive sleep apnea that a sleep study is unnecessary. Overall, this tool for physicians could serve to expedite treatment and to reduce unnecessary expenditures, and greatly improve the quality of life for individuals with Down syndrome diagnosed with obstructive sleep apnea.
|Elsharkawi, Ibrahim; Gozal, David; Macklin, Eric A et al. (2017) Urinary biomarkers and obstructive sleep apnea in patients with Down syndrome. Sleep Med 34:84-89|
|Jayaratne, Yasas S N; Elsharkawi, Ibrahim; Macklin, Eric A et al. (2017) The facial morphology in Down syndrome: A 3D comparison of patients with and without obstructive sleep apnea. Am J Med Genet A 173:3013-3021|
|Allareddy, Veerasathpurush; Ching, Nicholas; Macklin, Eric A et al. (2016) Craniofacial features as assessed by lateral cephalometric measurements in children with Down syndrome. Prog Orthod 17:35|
|Rosen, Dennis; Lombardo, Angela; Skotko, Brian et al. (2011) Parental perceptions of sleep disturbances and sleep-disordered breathing in children with Down syndrome. Clin Pediatr (Phila) 50:121-5|
|Skotko, Brian G; Levine, Susan P; Goldstein, Richard (2011) Self-perceptions from people with Down syndrome. Am J Med Genet A 155A:2360-9|
|Skotko, Brian G; Levine, Susan P; Goldstein, Richard (2011) Having a son or daughter with Down syndrome: perspectives from mothers and fathers. Am J Med Genet A 155A:2335-47|
|Skotko, Brian G; Levine, Susan P; Goldstein, Richard (2011) Having a brother or sister with Down syndrome: perspectives from siblings. Am J Med Genet A 155A:2348-59|