New study finds model assessment could predict obstructive sleep apnea in children with Down Syndrome

Obstructive sleep apnea is a serious concern for people with Down syndrome. The National Down Syndrome Society reported there is a 50 to 100 percent incidence of OSA in these individuals, with 60 percent of children with Down syndrome undergoing abnormal sleep studies from three to four years of age. The frequency of OSA diagnoses rises with age. 

The connection between OSA and Down syndrome
OSA occurs when someone's airway is blocked during sleep due to a physical feature. During sleep, affected individuals will briefly stop breathing, sometimes multiple times a night. One of the main reasons why people with Down syndrome have a higher rate developing OSA is their anatomy.

These anatomical features include low muscle tone in the mouth upper airway and central apnea, as well as narrow air passages in the face and throat, hypertrophy of adenoid and tonsillar tissues, and a relatively large tongue. Other contributing factors are frequent upper airway infections and obesity. Symptoms that indicate sleep abnormalities include snoring, restless sleep patterns, frequent waking during the night, daytime sleepiness, difficulty getting out of bed and gasping noises. 

To detect OSA, the American Academy of Pediatrics recommends a baseline sleep study or polysomnogram for all children with Down syndrome under the age of four. Treatment plans for individuals suffering from OSA include surgical procedures and non-invasive options. Treatments in the latter category include sleeping with a continuous positive airway pressure machine, using dental appliances or trying to lose weight.

Surgical procedures may include the removal of enlarged tonsils and adenoids. For people with Down syndrome, this surgical option may have significant positive results. However, the precise surgical recommendations vary based on the needs of the individual. Before physicians can follow any treatment plans, children with Down syndrome must first undergo a sleep study for proper diagnosis.

New study shows model assessment may predict OSA
​Sleep studies have long been accepted as the most affective predictor of OSA. However, a new study published in American Journal of Medical Genetics, from researchers at Mass General Hospital for Children, found that a combination of parental questionnaires and inexpensive diagnostic procedures performed in a primary care office may rule out the need for sleep studies in young children.

For parents and guardians of children with Down syndrome, sleep studies can be expensive and uncomfortable. During a sleep study, doctors measure their patients' heart rate, respiration, blood oxygen levels and brain waves while they sleep. While this is possible for adults, completing this study can be challenging and sometimes impossible for children with Down syndrome, especially if they have complex behavioral conditions. 

During the course of the study, researchers were able to identify model assessment participants who did not have moderate or severe OSA with a 90 percent accuracy rate. Though researchers concluded that their report should still be followed by future studies, they found that parental questionnaires and physical examinations could lessen the number of unnecessary and detrimental sleep studies in young children with Down syndrome.

"We were somewhat surprised that anatomic facial calculations did not prove to be predictive," Brian Skotko, co-director of the MGH Down Syndrome Program and corresponding author of the study, explained. "Since not all people with Down syndrome have the same craniofacial structures, we thought that those with smaller airways might be more apt to have apnea; but we did not find that to be the case. But before we can recommend this model for clinical use, we are testing the significant elements of our screening tool on a new set of research participants here at MGH, which should take about two years."

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This entry was posted on Monday, February 27th, 2017 at 1:07 pm. Both comments and pings are currently closed.