DNA Scans Can Spot Cause of Brain Issue in 25% of Kids
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Scanning the genes of children with inherited brain disorders pinpoints the precise cause more than a quarter of the time, often changing the diagnosis, according to one of the largest studies of child DNA sequencing.
The study published today in Science Translational Medicine examined the genes in 118 people with child-onset brain development disorders where obvious causes had been excluded. Researchers found new disease-causing mutations in 22 patients. In 10 more people, the scans found rare genetic diseases that had been misdiagnosed because symptoms were atypical. In two cases, the new diagnosis led to changes in treatment.