国际英语资讯:New study to sort out risk genes for brain development disorders_时事

国际英语资讯:New study to sort out risk genes for brain development disorders

While observing that some genes were more closely associated with autism and others with intellectual or developmental impairments, the researchers found that most of the genes implicated were mutated in both conditions. "Most of these genes are clearly risk factors for neurodevelopmental disorders in a broad sense," the researchers explained. "But analysis of both the genetic and subsequent patient follow-up data did single out some genes with a statistical bias towards autism spectrum disorder, rather than an intellectual disability or developmental delay."

This result reinforces the substantial overlap among these conditions in their underlying genetics and observable characteristics. And additional findings suggest that less severe mutations may be behind autism that is not accompanied by intellectual disability. In addition to looking at the overall severity of each neurodevelopmental disorder present, the researchers summarized other features such as seizures, head size, and congenital abnormalities.

The researchers did in fact observe patterns from combining clinical and genetic data. They partitioned those genes most strongly associated with autism, and those more related to developmental disabilities. Although the overall numbers were low, several autism risk genes appeared predominantly in males, including some detected exclusively in males who had autism without intellectual impairment.

By following up with patients, the researchers could start to assess the newly discovered mutations. Such clinical information is important in determining how the genes might function, and how their disruption might lead to specific traits or symptoms. "The scientists are continuing this project and are eager to work with interested families," Raphael Bernier, associate professor of psychiatry and behavioral sciences and clinical director of the Seattle Children's Autism Center and associate director of the UW Center on Human Development and Disability, was quoted as saying in a news release.