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Autism breakthrough: test could diagnose at birth

SEATTLE -- There is perhaps no diagnosis more frustrating and bewildering than autism. It's hard to pin down, and there's no standard treatment. But a Seattle Children's researcher says we're now one step closer to turning that around and diagnosing autism as soon as a baby is born.

Karen Kaizuka is the parent of an autistic child and says earlier diagnosis would have helped tremendously. "When my son was really, really young, about 7 months old, I sensed that there was something going on with him," she said. "He cried a lot. There was an uneasiness about things."

But answers were hard to come by. The family didn't get an official autism diagnosis for her son for another four years. And when it finally came, the relief of a diagnosis was coupled with a flood of questions. "You're completely overwhelmed by all the different kinds of therapies," Kaizuka said. "There's ABA therapy, speech therapy, sensory processing therapy, the list goes on."

And the therapy that works for one autistic child doesn't necessarily work for the next.

Dr. Raphael Bernier is the clinical director for the Seattle Children's Autism Center. He identified 15 autistic patients with similar physical features, including a prominent forehead, wide set eyes and a pointed chin. The patients also dealt with similar medical issues, including difficulty sleeping and significant gastrointestinal problems. Researchers found each patient has a mutation in the CHD8 gene. It's the first time a genetic mutation has been linked to autism and could one day lead to screening either in utero or at birth.

"I want to be able to identify kids early so we can intervene earlier, maybe even before symptoms start," Dr. Bernier said. "Now we can have really individualized, targeted treatments that will be most effective. And I think that's where the goal is and what I'm most excited about."

Dr. Bernier says a genetic test for autism is still years out, but this discovery moves the science and the hope forward.

Kaizuka's son does not have the CHD8 gene mutation or the subtype of autism seen in the study. But she was still excited to hear about the study. "Just being able to sort out a little bit more what is going to work for your child is a huge bit of hope for us as parents," she said. "If there was an actual data point you could point to, I would much earlier on be able to wrap my head around, okay, this is what I need to do. So we don't have to spend years upon years figuring out what parenting style is going right or wrong."

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