Genetic study offers answers to autism families

WASHINGTON, Feb 19 (Reuters) Birthdays are the hardest times for Melissa and Alex Kimmell of Culver City, California. That is when it is mercilessly brought home to them that their sons, 6-year-old Jonah and 4-year-old Gabriel, are not normal. Both boys have autism.

''Every year I think he'll wake up and just be a normal boy, talking like every other child,'' Melissa Kimmell said in a telephone interview.

''Every year that that doesn't happen, I have to admit that it's heartbreaking.'' Birthdays are also when the schools work out annual individualized education plans with parents of special-needs children.

''As a parent, you are sitting in these meetings with the teacher and you are hearing what your child is not doing,'' Kimmell said.

The Kimmells were among 1,200 families who took part in a 19-country survey of the genes that might be involved in autism, an often devastating disease with symptoms that range from social awkwardness to a near-complete failure to communicate with the outside world.

No one knows the cause, but a study published in the journal Nature Genetics yesterday found one gene and one stretch of previously unsuspected DNA on chromosome 11 that might be involved.

Advocates have been clamoring for health officials to say there is an autism epidemic. Weeks ago, the US Centers for Disease Control and Prevention published its first national survey on the prevalence of autism and related disorders. It found that one in 150 children have an autism spectrum disorder -- more than most experts had believed.

Kimmell is not surprised, but she is also not sure this means autism has become more common in recent years.

Many experts believe that autism is being diagnosed more now because people are looking for it.

''We don't diagnose illness unless it provides some benefit to us,'' said Roy Richard Grinker, an anthropology professor at The George Washington University in Washington who studies autism and has an autistic daughter.

LOOKING FOR LABELS ''A label can sometimes help you,'' added Grinker, author of the book ''Unstrange Minds: Remapping the World of Autism.'' In earlier decades, people were often ashamed to admit their children had problems. But now it is different, Grinker said.

''As a parent, I am so comforted that my daughter's classmates know so much about autism. They don't see her as bizarre,'' he said.

Kimmell has seen the benefits of early diagnosis and treatment.

She said she felt guilty at first, because her boys were so close to normal.

''7My son (Jonah) was a very early walker,'' she said, but he was quiet.

A pediatrician dismissed her worries, so she got Jonah a hearing test. The technician asked her if she had checked Jonah for autism.

California has free clinics that offer such specialized services and to her dismay, Jonah was diagnosed.

Her younger son, Gabriel, was 10 months and she soon took him for his own checkup.

''I was hoping they'd tell me, 'You're crazy -- he's completely normal,'' she said. ''But they said, 'actually, no he is on the spectrum.''' A diagnosis means families can seek help, and Kimmell believes targeted play therapy has helped both her boys adjust.

''With Jonah, we are getting some spontaneous language. I have heard 'Mommy' twice,'' she said.

''And he just walked up to me and looked in my face and said 'I love you so much.' It was awesome. It was his first sentence.'' And Gabriel, diagnosed at an even younger age, has friends, Kimmell said. ''He has got kids calling up and asking for playdates,'' she said. ''Who would Gabriel be now had he not gotten this early intervention? Would he have had those relationships?'' Reuters SP DB0904