Researcher Devoted to Finding the Cause of Autism

Six years worth of research summarized in Scientific American magazine

February 29, 2000

A professor at University of Rochester Medical Center has published a summary of her research studies that sheds significant light on the early stages of autism.

Patricia Rodier, Ph.D., professor of obstetrics and gynecology, is an embryologist specializing in the nervous system. She wrote about her findings in the February issue of Scientific American. The article, titled "The Early Origins of Autism," explains her quest to find the cause of the disorder. She believes genetic factors are a major cause, with environmental factors playing a secondary role in how genes might be expressed.

Children with autism have problems with social interactions. For example, they are unable to interpret the emotional states of others, failing to recognize anger, sorrow, or manipulative intent. Their language skills are often limited, and they often find it difficult to initiate or sustain conversations. Children with autism also frequently exhibit an intense preoccupation with a single subject, activity, or gesture.

"These behaviors can be incredibly debilitating," Rodier writes in Scientific American. "How can you be included in a typical classroom if you can't be dissuaded from banging your head on your desk? How can you make friends if your overriding interest is in calendars?"

Rodier's interest in autism began in 1994, after learning that researchers were studying victims of the thalidomide disaster of the 1960s had discovered a high rate of autism in these people.

The subjects with autism had been exposed to thalidomide in the first month of gestation, before the time when thalidomide causes limb defects. Although autism was never thought of as a disease that could be caused early in a pregnancy, the thalidomide results proved that it begins in the first stages of brain development.

"I've always studied the development of the nervous system, but neither I nor my counterparts were studying the nervous systems of children diagnosed with autism," Rodier says. "There was much less research being done on autism than you would expect. People were focused on trying to describe the symptoms, and little attention was being paid to the biology behind the condition."

It was previously believed that autism developed during late gestation or early postnatal life, but Rodier says there was no evidence to prove either theory. The connection with thalidomide, though, "threw a brilliant new light on the subject. It suggested that autism originates in the early weeks of pregnancy, when the embryo's brain and the rest of its nervous system are just beginning to develop."

Rodier has received a number of substantial research grants, and has assembled a group of scientists from six institutions to study the genetic and environmental causes of the disorder. She's worked closely with Susan Hyman, M.D., of the Kirch Developmental Services Center, part of Children's Hospital at Strong.

"It's important that we try to find the cause of autism, because it's a very common disorder - maybe as common as one in 750 children," says Hyman, a member of the National Alliance for Autism Research's Scientific Advisory Board. Rochester is an ideal site for large clinical studies because "our population base goes from the Canadian border to the Pennsylvania line."

Rodier's program is nationally recognized, having been designated by the National Institutes of Health as one of 10 Collaborative Program for Excellence in autism in the U.S.

The research has led Rodier to conclude that the brain stem of some people with autism is shorter than a normal brain stem, and that the structures at the junction of the pons and the medulla are closer to the structures of the lower medulla. It is, she says, "almost as if a band of tissue is missing in children that have autism."

Rodier and her fellow researchers are turning their attention to prevention. Denise Figelwicz, Ph.D., from the department of neurology, and Christopher Stodgell, Ph.D., from OB/GYN are co-investigators for these projects.

"We're trying to find out more about the genes that cause autism, so we can eventually work to prevent it," she says. "We have discovered several mutations that seem to play a role in autism. We are now creating mice with one of the mutant genes discovered in humans. These animals will be used to see how environmental factors might affect the development of the disorder."

When Rodier first began her research, some might have considered her methods a bit unorthodox.

"Most people active in the field had been studying the behavior of people with autism, rather than the physical features we have emphasized," she says. "The first time they heard our ideas, many of them didn't understand why we were looking at people's ears and facial innervation, or why we kept talking about embryos. The second time, some of them became interested, and now, we are treated like part of the mainstream of autism research, even though our approach is very different from everyone else's."

"Our research has not only given us the clue to which genes might cause the disorder, but also told us something about what kinds of environmental factors might play a role," Rodier adds. " Since no one had previously found a gene related to the disorder, this is a huge step."

"Many parents have called after reading the Scientific American article to say they're excited that someone is finally getting somewhere," Rodier says. "Many of them also ask how they can help, and want to learn more about enrolling their families in one of our studies. They're anxious for answers."

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