A New Strategy for Assessing Sleep Apnea Risk in Individuals with Down Syndrome

Investigators at the MassGeneral Hospital for Children have developed a promising new method for assessing the risk of obstructive sleep apnea (OSA) in children with Down syndrome.

The new method, which employs information that can be gathered during a visit to a primary care physician, could help to reduce the need for overnight sleep studies, which can be expensive and difficult for children and their families.

OSA occurs when the airway becomes restricted or blocked during sleep, causing breathing to become shallow or temporarily stop. In addition to interrupting sleep, OSA lowers oxygen levels in the blood and can impair cardiac, metabolic and cognitive functioning.

It is estimated that close to half of individuals with Down syndrome have OSA due to alterations in their craniofacial features that result from the syndrome. The American Academy of Pediatrics recommends that all children with Down syndrome undergo an overnight sleep study to screen for OSA starting at age 4.

The sleep studies are effective in measuring OSA risk, but they can be expensive and difficult to access in certain areas of the U.S. The studies can also be a challenging experience for individuals with Down syndrome, particularly young children.

The new method, which was developed by a research team led by Brian Skotko, MD, MPP, co-director of the MGH Down Syndrome Program, uses a variety of factors – including the physical characteristics and vital signs of the participants plus information provided by parents on a questionnaire – to predict the risk of OSA.

In a study of 102 children with Down syndrome, the team’s new method was able to accurately predict the risk of moderate to severe OSA in 90 percent of those who were diagnosed with the condition following an overnight sleep study.

The team is now working to confirm those results in a follow-up study.

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