Office of Epidemiology and Research, Division of Research

Advancing Applied MCH Research

Predicting Obstructive Sleep Apnea in Down Syndrome

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Project Number: R40 MC 25322
Grantee: Massachusetts General Hospital
Department/Center: Genetics/Medicine
Project Date: 9/1/2012

Final Report


Principal Investigator

Brian Skotko, MD
Medical Geneticist
185 Cambridge Street, Room 2222
Boston, MA  02114
Phone: (617) 643-3196


  • Early Childhood (3-5 years)
  • Middle Childhood (6-11 years)
  • Adolescence (12-18 years)


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 the first year of this study, 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, 3Ddigital 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. During years two and three of our study, we will validate our model with 100 new participants. Our final screening tool will thereby 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.




Developmental Disabilities, Special Health Care Needs, Chronic illness, Sleep

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