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Chromosome Abnormalities Raise Risk for Autism

By Amanda Gardner (HealthDay News) -- Abnormalities on chromosome 16 appear to raise children's risk for developing autism, a new study suggests.

Wednesday, Jan. 9

The discovery, made by a consortium of autism researchers, pinpoints one of the causes of a disorder that is turning out to be as complex in its origins as it is in its symptoms. Not only is autism complicated, its incidence has grown rapidly in recent years, with an estimated one in every 150 children in the United States now struck by the neurological disorder.

"This has given us another piece of the puzzle of the genetics of autism," said study leader Mark Daly, a member of the Autism Consortium with the Center for Human Genetic Research at Massachusetts General Hospital Center in Boston. "Autism is very complex, and we have only a few pieces in hand. We're trying to gain an understanding of the biological mechanisms underlying it. This is an opportunity to understand that."

According to the study, published Jan. 9 in the online edition of the New England Journal of Medicine, a section of chromosome 16 is deleted or duplicated in about 1 percent of people with autism spectrum disorders (ASDs). About 15 percent of autism cases have known genetic causes.
"We can only explain a fraction of all the kids with autism, and we know most have some genetic contribution," added study co-author Dr. David Miller, assistant director of the Genetics Diagnostic Laboratory at Children's Hospital Boston. "If we were making a top 10 list of the most important genetic factors contributing to autism that we know about, this would certainly be on that list." | U.S. News and World Report

Research paves way for predicting autism

January 10, 2008

"This is the real thing," said Sick Kids senior scientist Steve Scherer, lead researcher on the Canadian paper to be published in the American Journal of Human Genetics next week.

"If you have this [genetic] change, chances are you are going to be on the spectrum of autism disorders."

The link between the mutation and autism is so strong that Dr. Scherer said it will herald "the first highly predictive DNA test for an autism disorder."

"We are transferring the technology [to perform the test] from our research lab to the diagnostic clinic as we speak."

Dr. Scherer said the test is relatively cheap and easy to perform because it involves a deleted or duplicated stretch of chromosome 16 that covers some 25 genes. The race is now on to understand those genes, but at least five are already known to be involved in brain function.

If the genetic code in this region is deleted - like a sentence missing several words - it cannot be read, said Dr. Scherer, and this seems to result in more severe cases of autism. If the code is duplicated, the disorder appears to be milder - like a sentence in which repeated words make it difficult, but not impossible, to read. | The Globe and Mail

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