Medical Xpress December 31, 2024
For patients with neurodevelopmental disorders (NDDs), a genomics-informed model can provide clinical benefits, directly affecting management, according to a study published online Dec. 18 in Genetics in Medicine.
Aaron D. Besterman, M.D., from the University of California San Diego, and colleagues performed a retrospective study of 316 patients from a genomics-informed multidisciplinary, neuropsychiatric specialty clinic to examine the impact on diagnosis and management of patients with NDDs.
The researchers found that 41.8 percent of the 246 patients who underwent genetic testing had a pathogenic or likely pathogenic variant. Sixty-two different genetic diagnoses were identified: 12 diagnoses were shared by two or...
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