LIVING WITH AUTISM SOME GENETIC LINKS SUGGESTED IN NEW INTERNATIONAL RESEARCH.

Byline: DANA BARTHOLOMEW

Staff Writer

WINNETKA -- There were tantrums at the mall. Hissy fits during haircuts. And bouts of biting other kids in day care or striking children at birthday parties.

For Robert and Pilar Dowell, it was hard enough to bear twin sons with autism. Then a third son was diagnosed with the difficult brain disorder.

"I had a nervous breakdown at work. ... I could not stop crying," said Pilar Dowell, 43, of Winnetka. "We were both crying. We had gotten to the point where we didn't know what to do with the boys.

"We were both devastated."

Worse, two of Pilar's three nephews also share variations of the neurological disease.

With one in 150 Americans now thought to have the disorder, there is increasing evidence that heredity may play an important role in determining who develops autism.

The world's largest collection of DNA samples taken from families affected by autism now points to two new genetic links.

Results of the five-year groundbreaking study, led by the Autism Genome Project, were published Sunday in Nature Genetics.

For the first time, scientists from 50 research institutions in 19 countries combined DNA analyses of 1,200 families, including the Dowells, to search for genetic commonality.

They found that a newly identified region of chromosome 11, as well as the gene neurexin 1, may play critical roles in autism spectrum disorders.

Researchers at the University of California, Los Angeles, who participated in the study said the findings suggest that autism has numerous genetic origins, rather than a single or just a few major causes.

"I am excited," said Dr. Stanley Nelson, a professor of human genetics in UCLA's David Geffen School of Medicine. "This is the most powerful study of autism to date.

"(But) even though this study is huge, we need to increase in order of magnitude -- from 1,200 to 12,000 to 120,000 -- in order to find all the genetic causes of autism."

Such studies, however, are expensive.

Blood samples, DNA analysis and psychological testing of each autism family costs $6,000, Nelson said. The entire study cost an estimated $12 million.

Nelson is casting an even wider -- and cheaper -- net by inviting families with autism to register on the Internet and send samples of saliva for further DNA research.

In a revolutionary approach to autism research, the Autism Genetic Resource Exchange will then be posted online for scientists to study.

"I believe there will likely end up being hundreds of genes that lead to an increased risk of developing autism," Nelson said.

Autism is a complex disorder usually diagnosed in children by age 3. Characterized by a difficulty to express needs and an inability to socialize, it is often accompanied by acute behavioral challenges.

This month, U.S. health officials, saying about one in 150 American children shared the disease, called the troubling disorder an urgent public health concern.

A recent study by the U.S. Centers for Disease Control and Prevention suggested that 560,000 children and young adults have the condition.

For parents, such children can be especially challenging.

"It was difficult in the beginning," said Pilar's sister Gloria Martin, 45, of Santa Rosa, whose eldest son has autism and whose youngest son was diagnosed with pervasive developmental disorder, a variation of the disease.

"My (eldest) son would sit on the floor, his eyes would go completely white, and he'd start spinning. It was scary."

The Dowells also found it harder at first. When Kevin and Christopher were born nine years ago, the Dowells struggled to find the right baby formulas.

"Sometimes I think that God must have a lot of faith in me in order to handle this -- that he doesn't give us more than we can handle," added Pilar Dowell, while watching over her 5-year-old son, Alex.

"And it helps to have Robert -- divide and conquer. But it's not easy."

When Kevin and Christopher began to talk gibberish, the parents thought it was "twin talk."

Then they thought the boys might be deaf because they didn't respond to their names.

Soon, the twins began walking on tiptoes, refusing to take medicine and failing to heed social cues from other kids. But the parents were not aware these were all signs of autism.

By the age of 3, the twins were booted out of a day-care center after they bit and drew blood from other children.

A Gymboree center kicked them out for being unsociable. A party ended in a battle over birthday gifts.

At first Robert Dowell thought he might not have been strict enough with his boys, that he'd lacked consistency in "time outs."

Ultimately, all three sons were diagnosed with high-functioning autism. Much more sociable today, they get help from Los Angeles schools and California State University, Northridge.

"We're seeing progress," Pilar Dowell said. Nelson said that the Dowells had a 1-in-20,000 chance of having autism in all three boys.

"It's kind of bittersweet," the mother said. "Oh, God. Is it me that caused this for my boys? But it's a relief to know that it's not because we're bad parents, but the result of some neurological disorder."

dana.bartholomew(at)dailynews.com

[phone]

Profile of disorder

Autism is a developmental disability that results in severe social, communication and behavioral problems.

About one in 150 American children has autism.

Autism is growing at an annual rate of 10 to 17 percent.

The condition is four times more likely to affect boys than girls.

Symptoms generally emerge by a child's third birthday.

In addition to genetics, scientists are studying environmental, metabolic and viral causes of autism.

There is no cure for autism. However, treatment and education options are evolving.

For information on autism, see www.autism-

society.org; www.autism.org. www.cdc.gov/autismor www.nimh.nih.gov.

For more information on the study, see www.autism.

ucla.edu.

For information on the Autism Genetic Resource Exchange, see www.agre.org.

CAPTION(S):

2 photos, box

Photo:

(1 -- color) Young brothers and first cousins play in the home of Robert and Pilar Dowell in Winnetka. In front, from left, are Alex Dowell, 5, Carl Martin, 9, and Christopher Dowell, 9. Seated on the couch, from left, Marc Martin, 11, Kevin Dowell, 9, and Arthur Martin, 14. Most of the boys are autistic. A new international DNA study suggests there is a genetic component to the complex disorder. The Dowell brothers, along with researchers at the University of California, Los Angeles, participated in the groundbreaking study.

(2 -- color) Sisters Pilar Dowell, front row, left, and Gloria Martin, front right, have learned there is probably a genetic link, not any parenting failure, reflected in autism in their families. Next to Dowell is her husband, Robert, while Martin's eldest son, Arthur, 14, is next to her. Behind the four are, from left, Alex Dowell, 5, twins Kevin and Christopher Dowell, both 9, Marc Martin, 11, and Carl Martin, 9. The Dowells participated in a major new study.

David Sprague/Staff Photographer

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Profile of disorder (see text)