About 42% Of Children With Neurodevelopmental Disorders Have Rare Genetic Conditions

Genetic testing for a group of 246 children with neurodevelopmental disorders (NDDs) such as autism, developmental delay, and other neurodevelopmental disorders revealed that 41.8% had rare genetic mutations that would benefit from changes in clinical management. The genetic testing focused on identifying genetic mutations (also called pathogenic variants) that increase the risk of developing a disease or disorder.

Within this group, there were 62 different genetic diagnoses. The majority, 50 diagnoses, were found in just one person. Twelve diagnoses were shared by two or more people.

The test results led to changes in care. About 69.4% of those . . .