Drugs Hint At Potential Reversal Of Autism

Scientific researchers can spend years in the lab on obscure topics, like how a sea slug remembers or how a fruit fly sees color. But every now and then, a basic scientist makes a discovery that changes human lives.

Mark Bear, who directs the Picower Institute for Learning and Memory at MIT, is one of those basic scientists. He's discovered a system in the brain that could change the lives of thousands of people with the genetic disorder known as Fragile X Syndrome.

Fragile X is a mutation on the X chromosome that can cause mental retardation and autism. Until now, there has been no treatment.

But Bear discovered that the mutation responsible for Fragile X appears to disrupt a system in the brain that regulates synapses — the connections between brain cells. He says the system works a bit like a car.

"You really need both the accelerator and the brake to properly function," Bear says. "In the case of Fragile X, it's like the brakes are missing. So even tapping the accelerator can have the car careening out of control."

Bear and other scientists have also identified several drugs that seem to correct the problem. The drugs don't replace the missing brakes in the brain. Instead, they limit acceleration by reducing the activity of a group of receptors on brain cells known as mGluR5 receptors.

The drugs have reversed most of the effects of Fragile X in mice. They are now being tried in humans. And at least one small study found that a single dose of a drug had an effect.

The implications for people with Fragile X are huge. If the drugs work, people with the disorder could see their IQs rise and their autism diminish.

"It's a dream come true to think that we have the prospect of having gone from really basic science discovery to a potential treatment," Bear says.

Bear's research was funded in part by a group called FRAXA. Katie Clapp and her husband, Michael Tranfaglia, started the group in the early 1990s as a way to help their son Andy, who has Fragile X Syndrome.

Clapp says she now has reason to hope that Andy, who is now 19, can get better.

"We're not expecting a miracle, or to make up for his 19 years of development," she says. "But if we can watch improvement happen, that's a dream."

School gets 'a lot of credit' for autistic boy's growth

by DAVID WENNER, Of The Patriot-News
Tuesday January 13, 2009, 11:57 PM

Helen Reyes knew cancer would kill her. But the single mom was most afraid of what would happen to her son, L.J.

L.J. has fragile x syndrome, which is similar to autism. He'll probably never be completely independent.

Reyes knew she wouldn't be around to fend for L.J. So she latched onto a dream.
She dreamed of an institution such as the one depicted in the movie "Rain Man," in which Dustin Hoffman played an autistic man.

She pictured L.J. surrounded by trees and lawns. She imagined gentle caregivers who would protect her son, who was 13 when she died in 2005.

As often happens with dreams, it didn't come true. Yet she might be smiling.

L.J., now 16, lives near Halifax in a house overlooking a valley. He goes to Upper Dauphin High School, attending a program that focuses on making him as independent as possible.

His classroom contains a replica of an apartment, where students learn about cooking and cleaning and laundry.

"I think it has worked out great," said Beth Lehman, his legal guardian. "I give the school a lot of credit."

Through the school, he has worked at a church preparing meals for the elderly, and at a local grocery store.

He's more composed and makes more eye contact than he did a few years ago, Lehman said. He visits his grandmother, Johanne Kohl of Steelton, and his uncle, who lives in Philadelphia.

Sherry Gaglione of West Hanover Township was a close friend of Helen Reyes and has known L.J. since he was a little boy. She keeps in touch with Lehman and L.J.

"I couldn't be more happy for him. He's adjusting well. Beth is like his second mom," Gaglione said.