Canadian Researchers Make Breakthrough Finding In Autism Study
Posted February 19, 2007 12:00 pm.
This article is more than 5 years old.
A Canadian-led international study on autism has made what’s being called a “major breakthrough” in pinpointing what causes autism in children.
Hospital for Sick Children researchers, working with experts from the Offord Centre for Child Studies in Hamilton and experts from eight other countries scanned the entire human genome for genes they believe may be linked to autism. Their studies eventually centred in on the human chromosome 11, and a gene known as neurexin 1 – believed to play an important role in brain development.
Dr. Stephen Scherer, who studies genetics at the Hospital for Sick Children, co-authored the study, and helped determine that a person’s DNA doesn’t contain simply a set of genes from each parent, but sometimes missing genes and in other cases multiple copies of some genes.
The extra or missing parts have been called copy number variations, or CNVs, and it was here that the scientists focused their research.
“We’ve now localized or pinpointed along the chromosomes, the DNA where many of the susceptibility genes reside. And in fact we’ve probably identified some of these susceptibility genes,” the doctor explains.
Scherer said the findings are important because it gives autism experts a new area in which to focus their efforts – the hope is that they’ll eventually locate specific mutations on specific genes that cause autism.
“We have a good understanding of what the architecture of the genome looks like in autistic individuals now,” he said. “We didn’t have that before.”
It’s incredible news for families like the McMahons. Their son, 12-year-old Devon, has autism.
It’s a condition that makes it difficult for him to communicate his wants and needs with the rest of the world. Those born with the problem often seem withdrawn and unable to speak, and stimulate themselves with repetitive movements that are difficult to stop.
In the worst cases, children can become violent and try to hurt themselves.
The discovery isn’t a cure, but is a peek at what might cause the disease. And it could lead to tests to help detect it early. That’s crucial to give those affected early behavioural therapy to help them become functioning members of society.
Kirk McMahon knows his boy faces an uncertain future, and the discovery would have benefited him.
“At least get on the wait list for services much sooner,” McMahon relates. “So where with Devon we couldn’t get on the wait list until five-and-a-half … because he wasn’t diagnosed.”
McMahon knows it won’t help his son but the work being done at Sick Kid’s could help the next parent. And that would be more than a blessing in disguise.
“This really, really helps take that and put it in perspective and give us a bit of distance from it … so that we can get on with the raising of our son.”
The research is far from finished. Scientists are now starting phase two of their research. They hope to be able to find out why the genes in question trigger autism. And beyond just testing for it, that could be the first step in outright prevention.
Autism is the most common form of developmental disability in children, affecting one in 165 youngsters. In all, 137 scientists from 50 research centres worldwide make up the Autism Genome Project.
