Doc Talk: Tracking Progress Against Autism

With Dan Geschwind, M.D, Ph.D.

new autism researchAutism spectrum disorder is now estimated to impact one in every 68 children in the U.S. and anyone not affected by autism likely knows someone who is. Researchers have been working for decades to unlock its causes and find effective treatment. At the forefront of these efforts is the Center for Autism Research and Treatment at UCLA.

Its director, Dan Geschwind, M.D., Ph.D., says we know much more about autism than we did just five or 10 years ago, and that now that the disorder has been recognized as a sizeable public-health problem there are hundreds, if not thousands, of laboratories working on autism, compared to just a handful two decades ago.

“A kind of partnership between parents and academic researchers has really led to a revolution in our understanding,” he says. “We still have a long way to go, but we’re very encouraged by recent research findings and yearly progress being made. It’s not fast enough for many of us, but it’s really true progress.”

Geschwind offers this update on the latest developments.

What advances have we made toward earlier detection of autism spectrum disorder?

There’s been quite a bit of work in early detection based on genetics and biomarkers. But, certain aspects of early detection do not reflect scientific or clinical issues, but rather reflect problems caused by the fragmentation of our health system. There are clear disparities in detection and one of the largest advances that’s been happening is detecting kids from underrepresented minority groups earlier. There used to be a three-year lag between non-minority kids and Hispanic or African American children. And so there’s been a recognition of that and work toward lowering the initial age of diagnosis. There still is a long way to go, though and we’re far from finished. That’s something we should be able to do something about, but it will take social mobilization, rather than changes in science and medicine.

In terms of the science, there’s been a lot of work on what are called biomarkers – something that is biological that’s a marker of risk for autism, such as brain waves measured by electroencephalograms (EEGs). That work has looked fairly promising. None of it is ready to be rolled out clinically yet, although there’s some work on eye-movement biomarkers that may actually be brought into a clinical trial starting later this year.

What would an eye-movement biomarker look like?

When a child who’s autistic is looking at a face, they pay attention to certain things that are not what we typically might pay attention to. So, when we’re paying attention, or a neurotypical child is, we spend a lot of time looking at the eyes. And autistic children, and those that may later be diagnosed with autism, prefer to spend more time looking at objects or things that are moving, like the mouth. If early in development you’re not paying attention to the critical and most salient elements of social behavior, you might not learn it that well.

Have we learned anything more about the causes of autism?

A lot. When it became clear more than 20 years ago that autism had a large genetic liability, people began genetic studies of autism, but the technology wasn’t there to really take advantage of that until the last 10 years or so. In the last 10 years we’ve gone from understanding very little about autism’s cause to being able to identify a genetic variant that is likely causal or has a major impact on the risk for autism in a child in about 20 percent of cases.

It means that now genetic testing is indicated as a clinical test in the diagnosis of autism.

What about environmental factors?

The environmental work is still not there yet. There is some room for environmental contributions for sure, and we think that’s important, but it may not be environment in the way we think about it. There’s no evidence for vaccines, mercury or other environmental toxins as a large-scale cause in the population. What we do know about environmental factors is that the things that increase the risk for other neurodevelopmental disorders – such as epilepsy or intellectual disability – also increase the risk for autism. Perinatal factors such as being significantly pre-term or having hypoxia or intercerebral hemorrhage, or similar factors may increase the risk for autism similar to the way they increase the risk for these other disorders.

Are we seeing anything promising in the way of treatment?

If you apply very early behavioral interventions, we know you can have a big impact. If we could implement best-practice behavioral and cognitive interventions, we could make huge impact in probably 30 or 40 percent of kids. And now researchers, including those at UCLA, are beginning to develop similar therapies even for children who are nonverbal to help them learn language or to become more functional.

But the future is also in identifying molecular pathways that are impacted by the genetic risk variants and finding medications to target those that might increase social motivation, make social behavior better, etc., and combine that with best practices behavioral and cognitive therapy. Because of the genetic findings, a lot of pharmaceutical and biotech companies are now working on developing therapies, so I’m fairly optimistic.

I’ll give you an example. If you’re trying to teach somebody to read and the light is off in the room, you can sit there next to them and it’s going to be hard for them to learn how to read. If you turn the light on but just throw the book on the table, they’re unlikely to learn how to read as well. It’s a combination of teaching and therapy with “turning the lights on” through medication that really is necessary.

Learn more about current research efforts and treatment on the Center for Autism Research and Treatment website, www.semel.ucla.edu/autism.

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