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Doctors Find Link Between Genetic Disease & Autism

Disorder Could Explain Causes Of Autism

POSTED: 4:01 pm EDT August 5, 2008
UPDATED: 10:19 pm EDT August 5, 2008

A new discovery could help doctors understand what causes autism. Doctors at Massachusetts General Hospital for Children have found a link between a genetic disorder and autism. News Center 5's reported Tuesday on the research.

VIDEO: Doctors Find Link Between Genetic Disease & Autism

Ben Hutchinson, of Wenham, Mass., was diagnosed with a rare genetic disorder when he was 8 months old.

"Life hasn't been easy for him," said Tracey Hutchinson, Ben's mother. "He has tumors on his brain that can grow on any vital organ. He also has them on his face. He has them on his eyes. He has them on his gums. He has kidney manifestations as well."

Hutchinson's benign tumors are caused by Tuberous sclerosis complex, a disease that affects one in 6,000 people.

"It's more common than cystic fibrosis and muscular dystrophy. It affects people in a very dramatic way," said Dr. Elizabeth Thiele, a neurologist with MassGeneral Hospital for Children.

TSC symptoms may include everything from seizures to lung and kidney disease to developmental problems, according to Thiele. But now, Thiele has discovered it could unlock the mystery surrounding autism.

"It is probably one of the leading causes of autism," Thiele said. "About 25 percent of people with TSC are on the autism spectrum," she said.

According to Thiele, in the general population boys are four times more likely than girls to have autism. But Thiele said the statistics are very different when you factor in TSC.

"In TSC, we think it's fairly equal between boys and girls," she said.

Thiele wants people to know more about TSC, and how it's link to autism could help treat patients.

"The association of TSC and autism is intriguing because it is so common in this disorder. And if we could understand it here, we could understand autism better in general."

"It's not going to change how much you love your child. It's just going to change the way you help your child," said Thiele.


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