Artificial intelligence can accelerate clinical diagnosis of fragile X syndrome

An analysis of electronic health records for 1.7 million Wisconsin patients revealed a variety of health problems newly associated with fragile X syndrome, the most common inherited cause of intellectual disability and autism, and may help identify cases years in advance of the typical clinical diagnosis.

Connecting research and clinics to help those with autism

One of the goals of the study is to discover how genetic variations in young people with ASD are related to brain changes that lead to clinical symptoms of the disorder, such as impaired social interaction and repetitive behaviors.

“If you think about it, in between genes and clinical symptoms [of ASD] are changes in brain development,” says Lainhart. “Genes first impact brain development, and as a result of changes in how the brain develops, there are clinical manifestations of what we recognize as ASD.”