With Help From Families, Scientists Find Overlooked Genes For Autism
There are many ways to enhance the lives of those diagnosed with autism, a developmental disability that federal figures show affects 1 in 44 children.
But the condition is a spectrum of disorders affecting social communication and interaction, and doctors aren’t always able to provide parents with precise information about what to expect or know how to tailor the therapies.
With the help of hundreds of families in Maryland and many more around the country who shared their genetic information, a group of researchers have identified a previously overlooked group of genes linked to moderate forms of autism that a Kennedy Krieger Institute autism researcher says puts those doctors “one step closer.”
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“Since autism is a spectrum, the impact on individual function can vary widely‚” said Ericka Wodka, clinical director for the institute’s Center for Autism and Related Disorders in Baltimore. “If we have a genetic marker suggesting why some have autism, then we can better understand the individual response.
“For a certain group, we could understand what treatment works best with that group or what medical risk they were predisposed to, and how we can better support families,” said Wodka, who was not involved in the current research.
Wodka said parents are often left reeling from an autism diagnosis, even if they are relieved to get an answer to why their child has developed issues that they can’t otherwise explain. But not knowing exactly what comes next for their development or how to address existing and future conditions can be just as hard.
The new research can’t yet provide those answers, but provides a path to explore, she said.
To identify the genes, researchers used a massive pool of genes collected through an ongoing study called SPARK — the country’s largest ongoing autism study. It contains the medical records, including DNA from saliva, of 275,000 people referred from multiple institutions, including Kennedy Krieger.
The researchers are constantly tapping the study database to look for clues to the origins of autism, which is understood to have genetic underpinnings, as well as some environmental ones such as infant prematurity. Researchers already have identified genes associated with more severe autism and knew there were more genes out there to identify for other parts of the spectrum.
They found the new set of genes revealing the genetic influences on moderate autism when they examined the DNA of nearly 43,000 people.
The research was published as a set of findings published last month in the journal Nature Genetics.
Researchers plan to continue studying the genes to determine such things as how likely someone is to be diagnosed with autism, what characteristics a person may develop and what therapies work best, said Dr. Wendy Chung, director of clinical genetics at Columbia University and principal author on one of the new research papers.
First, they will try to determine what other factors have to mix with the genes to cause someone to develop autism.
“These newly identified genes are inherited; mom and dad had the genes, too, but maybe they didn’t have autism,” Chung said.
“What were the other genes or conditions in the environment that combined and led to autism?” she said. “We don’t know yet.”
When researchers find those answers, she said, maybe doctors can discover what medications and nondrug therapies work — and don’t work — for moderate autism and even for an individual.
Typically, those diagnosed with autism can have some level of difficulty with social communication and relationship building, repetitive behaviors and hypersensitivity to the environment. Often they have other conditions, such as intellectual disabilities.
Chung said maybe there is a specific drug that could calm this kind of autism so people can better focus or another remedy tailored to a person on this part of the autism spectrum. If more is learned about the genes and the specific mix of other genes and conditions, perhaps there would even be a way to stop autism from developing in some people.
Any remedies would be way off, she said. More needs to be learned about the genes first.
This kind of advancement is what prompted many families, including the Winstons of Baltimore, to volunteer for SPARK.
Rico Winston said his son, Isra’El, doesn’t have the genes identified in the newest research. But they will continue to participate “to help my son, the community and the global community,” Winston said.
After Isra’El’s diagnosis at age 2, Winston eventually found his way to Kennedy Krieger, which helped turn his nonverbal toddler into a vibrant 13-year-old who chats with his dad and has found a love for horseback riding. He is managing, with some challenges, to attend a city public school.
Winston said he marvels at Isra’El’s progress and how he has matured, sometimes becoming even more concerned about his father’s emotional needs than his own. He said Isra’El “is perfect the way he is,” but also a “superhero” for his willingness to help do what he can for himself and others.
The single Baltimore dad said he, in turn, changed from a person at first in denial about the diagnosis into someone who is invested in therapies and research. And though the new findings won’t benefit Isra’El directly, it will give other families hope and, eventually, direction.
“One of the most imperative things for me when my son was diagnosed with autism was to understand, have a road map to go through the process, from why it happened to what now,” he said.
The family plans to continue participating in SPARK because, Winston said, “there is so much more research that needs to be done to bridge the gap.”
© 2022 The Baltimore Sun
Distributed by Tribune Content Agency, LLC
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