If we can understand what genes are linked to autism, we can have a sense for what’s going awry in the brain of a child developing autism, and once we can understand what’s going wrong, that’s when you can have targets for intervention. – Dr. Deborah Bilder
SALT LAKE CITY — Teri and Bill Exeter wouldn't change that their son has autism, but they wouldn't mind an easier path than the one their 14-year-old is facing.
"We are hoping that we can find something that can help him just fit better in the world, be able to participate a little bit more and have some opportunities as he gets older," Teri Exeter said Thursday.
Utah researchers are playing a part in an ongoing international study that may lead to more information on what makes changes in the brain that signal or spur autism, a developmental disorder that impairs various social and communication skills, as well as behaviors with varying levels of severity.
The Autism Sequencing Consortium has identified another couple of dozen genetic differences in more than 14,000 DNA samples from parents, affected children and unrelated individuals, including about 150 families from Utah.
The recent discovery increases the number of known autism genes almost fourfold to 33.
"If we can understand what genes are linked to autism, we can have a sense for what's going awry in the brain of a child developing autism, and once we can understand what's going wrong, that's when you can have targets for intervention," said Dr. Deborah Bilder, a psychiatrist and associate professor in the department of psychology at the University of Utah.
Bilder said the study is the largest of its kind, using shared data from teams at 37 institutions that make up the consortium. Their findings were published Wednesday in the journal Nature.
Utah Autism Coalition President Jon Owen said he believes more information will help families searching for answers, and the earlier they know what factors contributed to their child's autism spectrum disorder, the better.
"Getting the right behavioral therapy is important," he said. "Early intervention is key."
Owen's son, Ben, was diagnosed with autism spectrum disorder at age 2 after he was slow to learn to speak and developmentally delayed in other areas. A good pediatrician, Owen said, pointed them in helpful directions.
This year, Ben, now 7, began his first year in a public school.
"He's not quite mainstreamed with the other kids, but hope is on the horizon," Owen said.
The family has worked hard finding the appropriate therapies for Ben, and Owen said he hopes that with continued research, families who face autism diagnoses in the future might have more tools to deal with the various issues associated with the disorder.
"The more we learn about it, the greater the possibility for drug discoveries and developing pharmaceuticals that might help autistics at any age," he said.
The study points to pathways required for healthy development where variations in genes were linked to greater autism risk. Bilder said one has to do with how neurons communicate with each other and another determines which brain cells mature.
"The idea is to understand what is causing autism, so we can change the course of autism spectrum disorder," she said.
As some people with these genetic links did not display autism in the study, further research may examine how the environment or circumstance is working with the genes to increase or reduce risk of the disorder.
Bilder said researchers are not after a cure for autism spectrum disorder, as many people with autism display unique strengths and abilities that are embraced by the individuals and their families.
"We'd like to be able to prevent the degree to which autism causes severe impairment," she said. "Change the core features of autism that get in the way of a child's or an adult's ability to function, to communicate, to interact with others. That's what we'd ultimately like to change.
"I just want our community of providers, patients and families to have answers," Bilder added.
Nationally, autism occurs in 1 in 68 children, but it is more prevalent in Utah, with 1 in 54 children affected, according to 2010 data, the latest information available from the United States Centers for Disease Control and Prevention.
Utah families volunteered blood samples and endured lengthy interviews to provide information to the consortium, originally funded by the Beatrice and Samuel A. Seaver Foundation and the Seaver Autism Center within the Icahn School of Medicine at Mount Sinai in New York City. The study was made possible by grants from the National Institute of Mental Health and the National Human Genome Research Institute.
Support from "large and extended Utah families" is a unique addition to the overall project, according to the U.'s principal investigator, Hilary Coon.
"The opportunity to study very large sample resources with detailed genetic sequence data allows us to begin to understand how multiple genetic changes may work together in complex ways in the brain to cause autism," Coon said.
While changes in diagnosing and treating autism resulting from the study may be years down the road, the findings point to greater understanding, which is welcome at any stage, said Bill Exeter.
"It is exciting that autism is getting that much attention," he said. "It is a prevalent problem, and it only seems to be steamrolling."
The findings, Bill Exeter said, "are encouraging for parents like us that deal with it on a daily basis."
For now, though, Sam Exeter will continue the numerous doctor appointments and tests that often provide inconclusive results.
"Having a child with autism is routinely unpredictable," Bill Exeter said. "We've often been asked if we could make him normal or neurotypical, would we do it, and I struggle with that because there is so much about him that is unique and special about his personality and the way he is, and there are things that are difficult about it as well. It would take away so much of what he is."
The couple agreed, however, that it would be nice to be able to understand more about their son.
Contributing: Mike Anderson
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