Early Autism ID Could Spur Cure

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Early Autism ID Could Spur Cure 

 

By Kristen Philipkoski  |   Also by this reporter Page 1 of 2
 

02:00 AM Nov. 18, 2002 PT

Autism rates are rapidly increasing all over the world, but most markedly in California.

Between 1987 and 1998, autism rates increased 273 percent according to the state's Department of Developmental Services. Worldwide, up to 1 in 250 children have autism or a related disorder -- in California it's 1 in 150.

Researchers at California's M.I.N.D. Institute have teamed up with a private company called SurroMed to find out why. They believe a new technology that can test tiny biological samples with unprecedented speed will, in the short run, diagnose autism at birth and eventually find a way to cure or prevent it.

"If you don't diagnose autism until a kid is 2 or 3 years old, you've missed this incredible window of time between birth and 2 when the brain is going through an incredible construction phase," said David Amaral, a professor of medical psychiatry at the University of California at Davis, where the M.I.N.D. Institute is based.

A few years ago, the institute funded a pilot study that analyzed blood spots that are routinely taken from newborns in California and stored. Researchers compared the blood of children who eventually developed autism and mental retardation to kids with no diseases.

They found that eight varieties of peptides were elevated in the blood of kids with autism and mental retardation, but not in the blood of other children.

That suggested that autism could be diagnosed at birth –- is a significant improvement over genetic tests that simply indicate an increased risk. The problem was that they couldn't differentiate between kids with mental retardation and kids with autism.

Amaral knew they needed a faster and more sensitive technology to initiate another study that would get more specific information about the peptides.

That's where Howard Schulman came in. The two met at a meeting in 2000, while Schulman was taking a yearlong sabbatical from his post as chairman of neurobiology at Stanford University to work with SurroMed. He never returned to Stanford and is now the company's vice president of research and development.

When they met, Schulman told Amaral that SurroMed had spent tens of millions of dollars on technology that uses very small quantities of blood or urine, which is key when working with small children. The company had also developed a platform of technologies that can analyze and compare thousands of substances quickly.

"Our focus has been to essentially find biomarkers that can help either as a diagnostic of a disease, or can help to develop drugs," Schulman said.

SurroMed has optimized mass spectrometry to detect a wide range of characteristics in proteins with a very tiny sample of blood -- just a few microliters -- and then compare the thousands of samples to find differences specific to autism.

"Their corporate strategy didn't have autism on the radar," Amaral said. "But we impressed upon them the number of kids with autism in California."

Amaral and Schulman agreed that SurroMed's technology might be fast enough and sensitive enough to take the M.I.N.D. Institute's initial study a step further. They initiated a large-scale study to determine a biomarker for autism.

Portia Iverson, vice president and scientific liaison for Cure Autism Now, said such collaboration is vital for accelerating disease research.

"Companies don't have the information or the relationship with the patients to get the samples they need," Iverson said. "Support groups and research groups like ours have these resources."

At the same time, groups like the M.I.N.D. Institute and Cure Autism Now can't afford the cutting-edge technology that biotech companies have.

When you combine the two, "You can literally get answers 10 years faster," Iverson said.

Children with autism can run the gamut between "high functioning" and "profoundly affected." Without aggressive intervention, children with the most severe forms of the disease can't communicate. They stare at lights for hours, rock back and forth, make high-pitched vocal squeaks and flap their hands repetitively.

Amaral hopes that diagnosing these kids at birth will help parents intervene earlier to improve their children's quality of life.

Intense behavioral training can help autistic children communicate and socialize to a certain extent. But in the 50 years since the disease was identified, no one has discovered its cause, or a drug to treat it.

Amaral and Schulman hope their study will shed some light on the cause -- a highly controversial topic among researchers and parents.

Theories on what triggers the disease include infant vaccines and environmental factors.

Another controversial theory holds that genetics are to blame. There is a clear genetic predisposition to the disease since if one twin has the disease, there's a 90 percent chance the other twin will also develop autism, Iverson said. And if parents have one child with the disease, they are 20 times more likely to have another autistic child.

Some high-functioning people with autism or related diseases such as Asperger's syndrome tend to excel at technical jobs. As a result, they find themselves in a social situations more than before and seem to be marrying and procreating at a higher rate than ever.

But many, especially Bernard Rimland, founder and director of the Autism Research Institute, argue that genetics can't be the only reason for the spike in autism.

"While the genetic component is certainly important, it does not even begin to account for the huge upsurge in autism," he said.

Most autism activists and scientists agree that at this point in the research they can't afford to blame or exclude any one potential cause.

Danish researchers recently reported study results that suggest no link between autism and infant vaccines. But some say the study does not prove this irrefutably.

Rimland said that in Denmark vaccines aren't preserved using mercury -- the substance some suspect as the link between autism and vaccines. Second, vaccines are given less often in Denmark.

One of SurroMed's technologies called cytometry might solve the mystery of environmental triggers.

Exposure to toxins or allergens often causes an increase of certain antibodies in the blood. The cytometry technology could detect a trend in antibody elevation in autisic children, which could be linked back to a specific toxin.

"The more optimistic view is if we could determine that some kids are susceptible, but we can prevent them from exposure to whatever we determine might send them over the edge," Amaral said, "we might be able actually prevent a percentage of children from getting the disease."

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