One of the few things everyone in the autism community agrees on is the value of early intervention — the earlier the better. So imagine if autism could be diagnosed in the first few months of life, or even at birth. That's the goal of some promising new autism research co-sponsored by the National Institutes of Health and the National Alliance for Autism Research.
The project is called "Baby Sibs" because it focuses on the siblings of children with autism. Genetic research has shown that if a family has one child with autism, its chances of having a second child with autism are 1 in 15, well above the regular incidence of as many as 1 child in 166.
The program tracks siblings of children with autism from birth to see if those who do develop the disability show common traits that could lead to new diagnostic tools.
“Over the next few years, we're going to have a range of methods that will help us find children early at risk, maybe as early as four, five, six months of age," said Dr. Fred Volkmar, an expert in autism at the Yale Child Study Center. “And the hope is if we can start the intervention very early, we'll be able, we hope, in many children, to prevent the disability.”
Eye tracking in babies
At Yale, Dr. Ami Klin and Warren Jones have used a special eye tracking device to show that while watching a video, a typical child focuses on the speakers' eyes, while a child with autism watches the speaker’s mouth.
Now the team is figuring out ways to track eye movements of infants to determine whether children who will go on to develop autism demonstrate this viewing pattern as babies.
“The diagnostic value of this project is that we're focusing on very emerging skills, skills that babies are born with,” said Klin. “And we feel it is a disruption of those skills that leads to autism, and so by focusing on those skills we might be able to identify vulnerabilities even before the symptoms of autism emerge and, therefore, push back identification of vulnerabilities to the first months of life.”
At Vanderbilt University in Nashville, Tenn., Baby Sibs research focuses on whether the siblings who go on to develop autism demonstrate rapid head growth in the first few years of life.
"Children with autism have an unusual pattern of head growth," said Dr. Wendy Stone, a clinical psychologist at Vanderbilt. "Their head size as measured externally accelerates, and then it levels off. The question is whether that acceleration in head size can be a marker of autism."
Battle for research funding
But all this research costs money.
“The funding for autism research has increased dramatically,” said Dr. Thomas Insel, director of the National Institute of Mental Health. “In the last four years it's gone up at least threefold; it's now at about $100 million at the NIH."
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But NIH spending per afflicted individual still lags well behind most other diseases — with only $66 spent per person with autism.
John Shestack, founder of Cure Autism Now, says that amount is not nearly enough.
“Sixty-six dollars sounds like dinner at the Olive Garden,” he said. “It's not an appropriate response to a national emergency. The rate limiting factor in autism research is money and political will. For the first time ever there is more good science than there is money to fund it.”
But why is it that the money that's devoted to research on autism seems to be much less than that associated with other diseases?
“What you're seeing in autism funding is a very rapid increase,” said Insel. “But you're seeing that increase lag behind what you've seen in other diseases partly because of where we've started from. The percent increase here is huge, 300 percent, but the fact is that before 1999 there was very little investment in autism.”
Search for genetic clues
The NIH is putting the bulk of its funds into genetics research.
Dr. Joseph Buxbaum heads up the Autism Genome Project at the Mount Sinai School of Medicine. Buxbaum says he expects major progress in identifying the genes associated with autism in the next decade.
“I think within ten years we'll have found the genes of major affect and most of the genes of minor affect,” said Buxbaum. “That will then lead to reasonable targets for drug interventions. It will lead to much better diagnosis and certainly earlier diagnosis.”
Buxbaum says there could be a prenatal test within 10 years.
“If we get to the point where we have 10 genes that predict risk to some significant degree, then there is a prenatal test,” he said.
Once genes are identified, there will be targets for drug intervention.
Jansen Pharmaceutica recently applied to the Food and Drug Administration for approval of its antipsychotic drug Risperdal for patients with autism. It's the first time in history a pharmaceutical company has targeted autism as a disease.
“There are over a million and a half people with autism,” said Shestack. “And they have it from age 2 to age 70. And there is a tremendous opportunity for a company that wants to do well by doing good.”
The NIH credits parent advocacy groups for raising awareness and money, and pushing forward research in autism.
In the past 10 years, groups like Cure Autism Now and the National Alliance for Autism Research have raised almost $50 million.
For more information, go to www.autismspeaks.com
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