Video: Autism — what we know (and what we don’t know yet)

Dr. Wendy Chung


In this calm and factual talk, geneticist Wendy Chung shares what we know about autism spectrum disorder — for example, that autism has multiple, perhaps interlocking, causes. Looking beyond the worry and concern that can surround a diagnosis, Chung and her team look at what we've learned through studies, treatments and careful listening.

"Why?" "Why?" is a question that parents ask me all the time. "Why did my child develop autism?" As a pediatrician, as a geneticist, as a researcher, we try and address that question.

But autism is not a single condition. It's actually a spectrum of disorders, a spectrum that ranges, for instance, from Justin, a 13-year-old boy who's not verbal, who can't speak, who communicates by using an iPad to touch pictures to communicate his thoughts and his concerns, a little boy who, when he gets upset, will start rocking, and eventually, when he's disturbed enough, will bang his head to the point that he can actually cut it open and require stitches. That same diagnosis of autism, though, also applies to Gabriel, another 13-year-old boy who has quite a different set of challenges. He's actually quite remarkably gifted in mathematics. He can multiple three numbers by three numbers in his head with ease, yet when it comes to trying to have a conversation, he has great difficulty. He doesn't make eye contact. He has difficulty starting a conversation, feels awkward, and when he gets nervous, he actually shuts down. Yet both of these boys have the same diagnosis of autism spectrum disorder.

One of the things that concerns us is whether or not there really is an epidemic of autism. These days, one in 88 children will be diagnosed with autism, and the question is, why does this graph look this way? Has that number been increasing dramatically over time? Or is it because we have now started labeling individuals with autism, simply giving them a diagnosis when they were still present there before yet simply didn't have that label? And in fact, in the late 1980s, the early 1990s, legislation was passed that actually provided individuals with autism with resources, with access to educational materials that would help them. With that increased awareness, more parents, more pediatricians, more educators learned to recognize the features of autism. As a result of that, more individuals were diagnosed and got access to the resources they needed. In addition, we've changed our definition over time, so in fact we've widened the definition of autism, and that accounts for some of the increased prevalence that we see.

Watch the full video for the full presentation.

Wendy Chung
Wendy Chung is the director of clinical research at the Simons Foundation Autism Research Initiative, which does both basic and applied science to serve people affected by autism spectrum disorders. She's the principal investigator of the foundation's Simons Variation in Individuals Project, which characterizes behavior and brain structure and function in participants with genetic copy number variants such as those at 16p11.2, which are believed to play a role in spectrum disorders.

Chung also directs the clinical genetics program at Columbia University. In assessing and treating kids with autism spectrum disorders and intellectual disabilities, she uses advanced genomic diagnostics to explore the genetic basis of neurological conditions. She thinks deeply about the ethical and emotional questions around genetic medicine and genetic testing.


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