Cracking the Mystery of Autism

Brian slowly rocks back and forth, flapping his arms rhythmically as if trying to fly. He prefers to spend time alone or with a few trusted objects rather than with people. He never speaks. Brian is 4 years old and he has autism.

Autism, from the Greek word for self, is the name for an incurable brain disorder that impairs a person’s ability to communicate and relate to others. Symptoms may include repetitive behaviours such as headbanging, avoidance of physical or eye contact with others, and communication through gestures instead of words. About 40 percent of children with autism do not talk.

Autism is believed to have a strong genetic basis but the actual cause is still unknown. Some 200,000 Canadians are living with autism, which occurs in all racial, ethnic and social groups.

And the incidence of autism is on the rise. In fact, the number of children diagnosed as autistic climbed by 400 percent in the last decade alone. We do not know whether the increase is due to better diagnostic tools or environmental factors.

Today, 1 in every 500 children in North America is diagnosed with autism. It is more common than pediatric cancer, juvenile diabetes and HIV-AIDS combined.

Unfortunately, by the time autism is diagnosed – usually around the age of 3 – the best time for treating it has already passed. According to Dr. Steve Scherer of the Hospital for Sick Children and the University of Toronto, it’s a classic Catch-22: to be most effective, intervention should take place before age 3 but it’s very difficult to diagnose autism before that age.

Dr. Scherer heads a team of the country’s leading geneticists, developmental pediatricians and genome scientists taking part in a 10-nation project studying autism. With funding from Genome Canada, the team is working on isolating genes that may make someone susceptible to autism. Once those genes have been identified, physicians will be able to diagnose the condition much earlier and treat it more effectively.

This groundbreaking work will extend our knowledge of the biological nature of autism and could lead to drugs for treating the disorder. "The implications of this research are profound," says Dr. Scherer, "most importantly for these children and their families, but also for the Canadian health care system, which spends billions on autism every year."

Current treatment consists of concentrated behavioural therapies, often requiring nearly round-the-clock involvement by trained specialists – an expensive and labour-intensive approach. According to Dr. Scherer, if treatment starts early enough, many children may not need special services by the time they enter school, resulting in greater independence and lower costs.

What’s more, with an understanding of the genetic basis, it will be possible to predict whether autism is likely to recur in a family. This would significantly lessen the anxiety of prospective parents. It would also facilitate early diagnosis.

The research has already attracted interest from some of the world’s largest pharmaceutical companies, including Schering and GlaxoSmithKline. They see genomics discoveries and profiling as potential first steps toward developing effective drug therapies. This means opportunities for licensing agreements and two patent applications have already been filed.

For Brian and the millions of other children like him, however, cracking the medical mystery that is autism means even more: the chance for a better life.