Science Raises Hopes for Autism Breakthroughs

As we as a community and a nation prepare to mark World Autism Day on Monday, I think back to when my now 23-year-old son, Ryan, was first diagnosed with autism. One of the things that I distinctly remember was a comment I heard many times: “But he looks fine!”

Although well-intentioned, many people in those days assumed that any mental disability would be easily identifiable and quite evident. With autism, that is certainly not the case. In many ways, the years that have passed since then have taken us further than I ever could have imagined, both in the cultural acceptance of people with autism as well as in researching all aspects of this spectrum disorder.

Over the past decade or so, the U.S. Centers for Disease Control and Prevention reported that the number of children diagnosed with autism increased 10 to 17 percent annually. So it was notable that in 2016, for the first time since data has been collected, the reported rate of autism has remained steady. This still means that one in 68 children is being diagnosed with autism every year, and that hundreds of thousands of parents are searching for treatments and therapies that will help their children learn to communicate, manage behaviors and improve other symptoms of autism. While there is yet no “cure,” advancements in science, technology and behavior therapy have enabled us to dig deeper into the causes of autism and bring new hope for more effective treatments.

Since autism has its roots in early brain development, the focus of most research begins, naturally, in the brain. Recent findings reveal that, by observing how fast a child’s brain grows in the first 12 months, not only are scientists able to predict whether a child will be diagnosed with autism but they can also determine how severe their symptoms are likely to be. Biomarkers such as these will have enormous potential for earlier diagnosis and intervention.

The other important area of research is being conducted with genetics. Scientists have known that genetics play a role in autism for decades, dating back to a study in 1977 that revealed identical twins often share the condition. But the more researchers uncover about DNA, the more complex its contributions to autism seem to be. Although there is no single “autism” gene, studies conducted over the years have identified several genes that are considered to be strongly linked to autism spectrum disorder. The latest genetic study has generated much excitement over a specific gene, TAOK2, which many researchers believe plays a direct role in neurodevelopmental disorders such as autism.

Other signifiers, such as the role of the cerebellum in processing social cues and interactions, focus on brain regions and overall brain activity. These findings enable doctors to better predict patient outcome and determine potential new treatments and targeted medications. In late January, the Swiss drug-maker Roche announced that the U.S. Food and Drug Administration had given “breakthrough therapy” designation to Balovaptan, a drug to treat symptoms of autism. Currently, there are no standard FDA-approved drugs for autism that treat core symptoms such as social interaction and communication challenges. Balovaptan has shown the potential to improve these symptoms, and this designation means that the drug can move more quickly toward full FDA approval, undoubtedly a positive advancement in the field.

Of course, increased awareness and acceptance have also aided in the number of early intervention programs accessible to families. Recent studies have suggested that autism symptoms decrease when parents provide behavioral therapy to their high-risk babies. Moreover, research confirms that these gains are sustained as the child grows.

As exciting as these findings are, they are only a small handful of the hundreds of studies that are being conducted and published regarding autism research. Each new breakthrough reminds me of just how far we’ve come, and gives me encouragement for what the future may hold. As a mother and a professional working in this field, I keep in mind the advice of author and teacher Vernon Howard when he said, “Always walk through life as if you have something new to learn, and you will.”


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