Genetic marker may help scientists screen for disorder...

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VU’s find offers hope of treating autism earlierGenetic marker may help scientists screen for disorderBy CLAUDIA PINTOStaff WriterPublished: Tuesday, 10/31/06As a newborn, Grace Goad was mesmerized bythe mobile that spun above her crib. At 8 months,she stopped saying the 12 words she knew. And assoon as her feet could carry her, she ran in thesame circular pattern around the house.When doctors diagnosed her with autism at age 2in 1997, it was the first time the odd behaviorsmade any sense."She's always been in her own world," said Grace's mother, Leisa Hammett.Researchers at Vanderbilt are one step closer to unraveling the mystery of why thisdisorder occurs, after identifying a gene mutation that more than doubles the risk ofdeveloping autism."We've found a gene that increases vulnerability. It doesn't cause autism," said Dr. PatLevitt, director of the Vanderbilt Kennedy Center for Research on

HumanDevelopment. "No single gene causes it. It's estimated that between five and 20 geneswill play a part."Hammett and countless other parents are eager for an explanation of what causes thedisorder. Symptoms include unusual sensory stimulation, such as fascination orsensitivity to sound or light; communication disorders, such as limited speech; andabnormal socialization skills, such as an apparent indifference to human interaction.For reasons that are unclear, the rate of reported autism cases has skyrocketed. Until the1970s, 1 in 10,000 children would become autistic. Now the number is roughly 1 in166.Identifying this one gene mutation is not a sufficient diagnostic tool. However, the hopeis that if researchers identify enough genes that contribute to autism, screening soonafter birth could be possible a few years down the road."There have been a lot of studies that show if you have early diagnosis, you canimprove

the outcome through behavioral therapy," said Dan , a post-doctoratefellow at Vanderbilt. "It's not a cure, but it can lessen the symptoms."Parents of autistic children quickly learn that there is no shortage of autism treatments— some seem to help, others are pure quackery. One of the more widely acceptedtherapies in the autism community is an educational program called Applied BehaviorAnalysis, which basically rewards appropriate behavior with praise and fun activities.VU’s find offers hope of treating autism earlier - Tuesday, 10/31/06 http://www.gallatinnewsexaminer.com/apps/pbcs.dll/article?Date=20061...2 of 3 10/31/2006 8:08 PMVanderbilt researchers stress that autism can't be entirely caused by genetics. Levittpoints out that studies have shown that identical twins both develop autism about 80percent of the time."It's not 100 percent," he said. "So that tells you there are other factors."Vanderbilt researchers

hypothesize that people who are at risk may develop thedisorder after being exposed to some unknown environmental factor.Fertilizers, mercury and food preservatives are among the suspected culprits, but muchmore research is needed to prove that.That's why their next step is to study animals with this genetic mutation. Specifically,they'll look at whether autism-related brain changes occur after animals have beenexposed to different kinds of environmental factors."It's not just genes," said. "There are other factors."The gene that Vanderbilt researchers have linked to autism is known to play a role notonly in brain development but also in immune system regulation and gastrointestinalrepair. The other genes that scientists suspect are associated with autism are onlybelieved to influence brain function."Part of why this is so exciting is that this gene is associated with gastrointestinal andimmune system function,"

said. "Those are problems that kids with autismhave. They are more prone to have tummy aches and constipation. They get colds moreeasily.""Other genes that have been identified may explain the behavioral part but not the othergastrointestinal and immune system part of the disorder."Vanderbilt researchers examined the gene mutation — which scientists have dubbedMET — in nearly 750 families that had at least one child with autism. They discoveredthat people with two copies of the mutation were about 2.3 times as likely to haveautism as the general population and that people with one copy were about 1.7 timesmore at risk."It's far beyond what you would expect to see from chance," said of thefindings, which were recently presented in the online edition of the "Proceedings of theNational Academy of Sciences" and will run in the print version.The gene mutation is present in 47 percent of the population. Many

people who carrythe mutated gene don't have autism, but its presence seems to put people at greater risk.No one in Hammett's family had ever had autism. Before her daughter was diagnosed,the only things she knew about the disorder came from watching the movie "RainMan.""I only knew it in its extremes," Hammett said.In reality, the degree of disability varies. Some autistic people require constantsupervision during their lives. Others succeed in school, hold a job and functionindependently.Hammett says her daughter, now 12, falls right in the middle of the spectrum. "She canmake her basic needs known by words or gestures, but she's not conversational."The goal is to prepare Grace for living independently. Hammett sees to it that she getsVU’s find offers hope of treating autism earlier - Tuesday, 10/31/06 http://www.gallatinnewsexaminer.com/apps/pbcs.dll/article?Date=20061...3 of 3 10/31/2006 8:08 PMspeech and

occupational therapy, among other preparations.Strides have been made. Grace's communication has improved and, for the most part,she can get herself ready for school in the morning. But in many ways, Grace remainsin her own world."She might not look at you. She might ignore you," her mother says. "She might clapher hands or rock back and forth. She can become fixated on a piece of string on thefloor.Still, Hammett describes her daughter as a gifted artist and a happy girl who, unlikesome children with autism, loves being hugged."She's perfect just the way she is," Hammett said. "It's a beautiful journey, but it'sdifficult sometimes." •Published: Tuesday, 10/31/06

Shane M.D.

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