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A predictive model for obstructive sleep apnea and Down syndrome.

Brian G Skotko1,2, Eric A Macklin3, Marco Muselli4,5

  • 1Down Syndrome Program, Division of Medical Genetics, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts.

American Journal of Medical Genetics. Part A
|January 27, 2017
PubMed
Summary

A new tool can identify children with Down syndrome (DS) unlikely to have moderate or severe obstructive sleep apnea (OSA), potentially avoiding uncomfortable sleep studies. This aids in managing OSA in the DS population.

Keywords:
Down syndromeobstructive sleep apneatrisomy 21

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Area of Science:

  • Pediatrics
  • Genetics
  • Sleep Medicine

Background:

  • Obstructive sleep apnea (OSA) affects 55-97% of children with Down syndrome (DS), significantly higher than the 1-4% in neurotypical children.
  • Traditional sleep studies for OSA diagnosis are often uncomfortable, costly, and poorly tolerated by individuals with DS.

Purpose of the Study:

  • To develop a predictive tool to identify individuals with DS who are unlikely to have moderate or severe OSA.
  • To reduce the need for diagnostic sleep studies in DS patients where they may offer limited clinical benefit.

Main Methods:

  • An observational, prospective cohort study involving 130 DS patients (ages 3-24 years).
  • Data collection included physical examination, medical history, lateral cephalogram, 3D photograph, sleep questionnaires, polysomnography, and urine samples.
  • A Logic Learning Machine model was employed for analysis.

Main Results:

  • The developed model achieved a 73% negative predictive value for mild OSA and 90% for moderate or severe OSA.
  • Key predictive variables included survey responses, medication history, anthropometrics, vital signs, age, and physical examination findings.
  • Positive predictive values were 55% for mild OSA and 25% for moderate to severe OSA.

Conclusions:

  • A cost-effective model using simple procedures can predict which DS patients may not require a diagnostic sleep study for moderate to severe OSA.
  • This tool can help streamline care and reduce unnecessary discomfort and costs for individuals with Down syndrome.
  • Further validation of the model in clinical practice is warranted.