The latest in our video series where experts from the University of Chicago Medical Center answer frequently asked questions about popular medical topics. To suggest a topic or a question, please contact the editors.
Last week, we heard from Sharon Hirsch on how autism is diagnosed and what established, evidence-based treatments for the disorder are currently available. But the cause of autism and related autism spectrum disorders remains a scientific mystery, where a multitude of clues have yet to add up to a comprehensive theory. Because autism is a highly heritable condition – twins often share the disorder, and siblings of autistic children are much more likely to be autistic themselves – the most promising avenues of autism research appear to be in the realm of genetics.
Sure enough, several different genes have been found to be associated with autism. Many of these genes have to do with the development of the brain, such as neurexin and neuroligin, two molecules discovered by Stanford’s Thomas Sudhof to be important in the construction of synapses that allow brain cells to communicate. But even these genetic clues don’t offer easy answers, as scientists increasingly learn that autism is a complex disorder, likely caused by multiple defects rather than a single, smoking-gun gene.
William B. Dobyns, a professor of human genetics, neurology and pediatrics at the University of Chicago Medical Center, studies the genetics of autism and other developmental disorders. A few months ago, we wrote about his work with Kathleen Millen, associate professor of human genetics and neurobiology, in uncovering genes responsible for Dandy-Walker syndrome, a brain disorder that shares some symptoms with autism. Dobyns’ laboratory has also been directly involved in the search for autism genes, publishing earlier this year on a gene mutation found in an autistic patients that affects synaptic vesicles, another component of communication between neurons.
In the following videos, Dobyns talks about why the search for autism-related genes is both promising and frustrating, the treatments that those searches may someday yield, and the dangers associated with treating autistic children with unproven treatments. Most importantly, Dobyns talks about the hope that parents of autistic children should have due to the effectiveness of current established treatments (such as cognitive-behavioral therapy) and the promise of more effective treatments in the coming years.