MCH Research >

(FIRST) Predicting Obstructive Sleep Apnea in Down Syndrome


  • 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.


Listed is descending order by year published.

Elsharkawi I, Gozal D, Macklin EA, Voelz L, Weintraub G, Skotko BG. Urinary biomarkers and obstructive sleep apnea in patients with Down syndrome. Sleep Med. 2017 Jun;34:84-9.

Jayaratne YSN, Elsharkawi I, Macklin EA, Voelz L, Weintraub G, Rosen D, Skotko BG. The facial morphology in Down syndrome: A 3D comparison of patients with and without obstructive sleep apnea. Am J Med Genet A. 2017 Nov;173(11):3013-3021.

Skotko BG, Macklin EA, Muselli M, Voelz L, McDonough ME, Davidson E, et al. A predictive model for obstructive sleep apnea and Down syndrome. Am J Med Genet Part A. 2017;173(4):889-96. doi: 10.1002/ajmg.a.38137.doi:10.1002/ajmg.a.38137.

Allareddy V, Ching N, Macklin EA, Voelz L, Weintraub G, Davidson E, Prock LA, Rosen D, Brunn R, Skotko BG. Craniofacial features as assessed by lateral cephalometric measurements in children with Down syndrome. Prog Orthod. 2016;17(1):35.

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