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Urine test used to diagnose sleep apnea in Down syndrome children

Testing for urinary biomarkers may reduce the need for costly and uncomfortable sleep studies in children with Down syndrome.

By Amy Wallace
A new study has identified urinary biomarkers that can be used to diagnose obstructive sleep apnea in children with Down syndrome. Photo by dagon/PixaBay
A new study has identified urinary biomarkers that can be used to diagnose obstructive sleep apnea in children with Down syndrome. Photo by dagon/PixaBay

April 6 (UPI) -- Researchers have found a way to diagnose obstructive sleep apnea, or OSA, in children with Down syndrome through a non-invasive urine test.

The study from Massachusetts General Hospital identified urinary biomarkers that appear to distinguish between patients with Down syndrome with sleep apnea and those who do not have the sleep disorder.

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OSA happens when a person's airway is blocked or restricted during sleep resulting in a brief halt in breathing, disrupting sleep, reducing oxygen and potentially causing to cardiovascular issues. OSA is typically diagnosed by observing patients overnight in a sleep study setting while wearing electrodes to measure brain waves, heart rate, blood oxygen levels and respiration during sleep.

A person with Down syndrome, a developmental disability, would likely have difficulty undergoing a sleep study, which can be invasive, expensive and is not often available in all parts of the country.

Researchers identified differences in urinary biomarkers between neurotypical children who did and not have OSA, studying 47 children with Down syndrome between age 3 to 12 and a control group of 43 children without Down syndrome.

The participants gave urine samples before and after they completed hospital sleep studies known as polysomnograms. Researchers found differences between the urinary biomarkers of participants with Down syndrome who did and did not have OSA, but also found significant differences between the biomarker signatures of all participants with Down syndrome compared to those without Down syndrome.

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"How great would it be if one day soon we could collect a simple urine sample from patients with Down syndrome and predict whether or not they might have apnea," Dr. Brian Skotko, co-director of the MGH Down Syndrome Program, said in a press release. "It would be such a low-cost way of screening for apnea, that would save many patients and their families the hassle and discomfort of an overnight sleep study."

The American Academy of Pediatrics currently recommends all children with Down syndrome undergo sleep studies to diagnose sleep apnea. Researchers stressed their findings need to be confirmed in a larger study before urinary biomarker testing can be used clinically.

The study was published in Sleep Medicine

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