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Scientists probe autism’s mysteries

Researchers are expanding their efforts to determine what causes the behavioral disorder and possibly find ways to cure it

Parents of autistic children are turning to alternative therapies, such as the oxygen treatment Patrick French takes five days a week in Parsippany, N.J.

MCT photos

Researchers continue searching for possible genetic and environmental causes of autism in hopes of finding a cure.

HACKENSACK, N.J. — A single word — autism — changed Christine Bakter’s life.

It explained her son Alex’s strange behavior. It clouded her dreams for her second son, Ben, who was just 3 weeks old when Alex was diagnosed. Would he, too, have autism?

And it plunged her family into a world of scientific research — a world to which they have contributed as much as they’ve received.

Autism researchers are pushing to identify the genetic changes linked to autism. They’re unraveling the brain’s role in reading facial expressions, understanding spoken language and making friends. They’re trying to develop effective ways to teach those affected.

They’re helped by people such as the Bakters who — in the midst of their own difficult lives — are offering themselves for research.

Baby Ben was enrolled in a study of 300 siblings of children with autism — children who are 50 times as likely as the general population to develop the disorder. Alex is signing up for a study on computer software that trains autistic children to make eye contact and read facial expressions. The whole family has given blood samples for the Autism Genome Project, the largest-ever genetic study of autism.

But despite dramatic increases in research and funding, surprisingly little is known about autism. It still has no known cause or cure.

“Autism is an extremely complex disorder,” says James Millonig of Rutgers University and the University of Medicine and Dentistry of New Jersey. He is a mouse geneticist and one of the state’s top autism researchers. “The more ways we attack it scientifically, the better off we are.”

Research is taking place in labs across the nation. At the Center for Advanced Biotechnology and Medicine, a joint institute of Rutgers and University of Medicine and Dentistry of New Jersey, researchers are examining thousands of mice with a genetic defect similar to one found in humans with autism. They are hoping to understand the effects of this mutation on their behavior and brain chemistry.

In the New Jersey Language and Autism Genetics Study at Rutgers, cell DNA is scanned for gene changes shared by people with autism and their relatives with language impairments. This may pinpoint the genes involved with language use — and one day lead to a genetic test for autism.

Most research focuses on the causes of autism. Clearly, genes play an important role. Virtually every special school for children with autism has at least one pair of siblings. Studies of identical twins have shown that if one twin is diagnosed with autism, nine out of 10 times the other will be, too.

But it’s not a simple matter of one gene being passed on by both parents. Rather, several genes must mutate simultaneously for autism to develop — “at least three genes, if not up to 15,” he says.

Several research groups are trying to discover which genes are involved. They use samples from gene banks such as the one storing the Bakters’ DNA, and from the Rutgers University Cell and DNA Repository of 518 families, each with multiple autistic children.

The researchers are looking for genes that govern the development of regions of the brain that appear different in autopsies of people with autism. They look for gene changes linked to such symptoms of autism as repetitive movement and poor communication skills.

In an important development, researchers have found one gene involved in 40 percent of autism cases. It is associated with reduced growth in the cerebellum, one of many parts of the brain that affect movement and the ability to switch tasks. The next step is to understand how these DNA changes cause the brain to develop differently. “We’ll create mice to address this question,” Millonig says. The changes in their brain anatomy will add to the understanding of how the brain develops.

Genetics, of course, doesn’t explain everything. Even with identical twins, there is still a 10 percent chance that if one develops autism, the other will not.

Environmental scientists look at that 10 percent and ask why. What difference was there in the way the baby developed — in utero, and in the first months of life — that explains why the child doesn’t have the disorder? Was it the position in the uterus? Exposure to a chemical or a virus? A medication the baby or the mother took?

A lot of attention has focused on vaccines, which — until the last lots expired in early 2003 — contained thimerosal, a mercury preservative. The symptoms of autism often appear about the same time that toddlers receive a batch of immunizations, which has led some parents and scientists to suspect a connection.

A study by the national Institute of Medicine concluded in 2004 that neither thimerosal-containing vaccines nor the measles-mumps-rubella vaccine is associated with autism. In the search for other environmental causes, researchers have tested dust, water and air in the homes of dozens of children with autism.

Scientists at the Center for Childhood Neurotoxicology and Exposure Assessment, a joint program of UMDNJ and Rutgers in Piscataway, are looking at whether levels of metals, pesticides, volatile organic compounds and other pollutants in these children’s homes are higher than normal.

Preliminary results indicate they are not, said Clifford Weisel, a professor of environmental and occupational medicine at Robert Wood Johnson.

In particular, researchers are interested in the type of autism in which babies develop normally until about the age of 2, then regress. Could there be something about the way these children are affected by their environment — by mouthing their toys or by ingesting more pollutants — that explains the regression?

Autism’s ground zero

One piece of the autism puzzle that soon will be known is its prevalence.

Five years ago, a study in Brick Township in Ocean County, N.J., drew national attention when it documented an autism rate of 1 in 149 children — higher than had ever been found elsewhere. The cases included kids with Asperger’s syndrome and high-functioning autism as well as severe autism.

Researchers in the federal study delved into medical records and dug through school files to come up with an accurate count. They were galvanized by parents who worried that something in the air or water was harming their children.

But there was no way of knowing whether Brick’s rate was typical or abnormally high.

The Centers for Disease Control and Prevention then sponsored studies in eight states to determine the rate of autism in the general population and monitor it over time.

In New Jersey, researchers combed through records in Ocean, Essex, Hudson and Union counties to find children classified as autistic. From a population of 34,000 8-year-olds in 2000, they came up with an exact count. The results are to be published this fall, and, until then, researchers are mum.

The study will answer, once and for all, whether the Brick children were a cluster or a trend.

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