Healthbeat Report: Understanding Autism

March 27, 2009 2:40:23 PM PDT
Autism affects an estimated one in every 150 children born in the U.S.There is much debate about what causes the disorder. But this story is strictly about how genetics could play a role.

Families coping with a child who has autism are being asked to help science decode this mystery by supplying their genetic secrets.

"As a baby he seemed ahead of the curve. He walked at nine months. He sat up, rolled over really quite ahead of the statistics," said Vicki Phillis, mother.

But by the age of two, Vicki and Tim Phillis of Rock Island, Illinois knew something was going on with their youngest son Joe.

"It seemed like he was normal one day and then the next he was affected," said Tim Phillis.

Joe was irritable and didn't like being touched. He started to shut out the world.

By the age of 6, Joe was formally diagnosed with autism. Tim and Vicki were stunned. Their other children had no developmental disorders.

So why did this happen to Joe?

There are few answers about autism but the Phillis' are hoping to help scientists unravel the mystery. They're now part of an international effort to gather genetic information about thousands of families with only one child with an autism spectrum disorder.

Dr. Ed Cook at the UIC Medical Center is part of the effort in Chicago.

Doctors take blood to analyze DNA from every family member. The information goes into a global data base. Experts can compare the differences and possibly find factors that increase the risk of autism.

"We think all cases of autism have some smaller genetic hits that may be harder for us to pick up," said Dr. Cook, child psychiatrist, UIC.

Watch our full interview with Dr. Cook.

Researchers say there's mounting evidence many mutations occur spontaneously.

In children with a form of autism they are seeing cases where genetic material is duplicated or missing or even has holes. And it's these genetic glitches that may be affecting the way nerves in the brain communicate.

"Although it's a brain development problem, it does not mean that the brain is in an state where we may not be able to modify," said Dr. Cook.

And that's where drugs could play a role by correcting these brain deficits.

For example, doctors are closer to finding a drug for Fragile X syndrome a gene defect that causes mental impairment. It's believed to be the most common cause of autism.

Researchers have also come up with a simple blood test to screen for Fragile X which could mean early intervention. These discoveries are the result of years of genetic research and are said to be leading the field in new treatments for autism.

"And so treatments that work for Fragile X may also work for patients with autism and other developmental disabilities that have defects in the same pathways," said Dr. Elizabeth Berry-Kravis, pediatric neurologist, Rush University Medical Center. Watch an extended interview with Dr. Berry-Kravis.

Joe is now eight years old and his parents say he's become more social and affectionate after years of treatment.

The Phillis' know this current research may not help them today. But they see it as an investment in the future.

"Some kid 10 years ago did some kind of study that's helping our son now so it's important for us to help the next patient that comes along," said Vicki Phillis.

Autism is so complex researchers and parents are exploring causes from every angle. This is just one approach and would not apply to every child because there is such a wide spectrum.

More information:

University of Illinois at Chicago Medical Center
International Autism Study
"Simons Simplex Collection"

For more information about participating in the study contact:
Jackie Klaver

UIC Autism Center of Excellence
Dr. Edwin Cook
Child Psychiatrist or call (312) 413-4624.

Rush University Medical Center
Fragile X Testing

Dr. Elizabeth Berry-Kravis
Rush University Medical Center
Fragile X
Pediatric Neurologist

Also two studies at Rush for Fragile X drugs:

National Institutes of Mental Health Autism:

Autism Society of America: