A Better Test for Finding Autism Genes?

A genetic test for autism currently classified as a secondary approach may be able to pick out the underlying causes for the condition at a rate more than three times that of a screening considered to be a first-tier test, according to a new study published in the journal Pediatrics today by the Autism Consortium and Children's Hospital Boston.

Researchers launched the study to compare the newer screening, called chromosomal microarray analysis (CMA), against the tests that the American Academy of Pediatrics currently considers to be first-tier approaches -- G-banded karyotype and fragile X testing. They said they hope the new research will help the test achieve first-line status when it comes to determining the genetic reasons behind autism spectrum disorders.

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The CMA test was developed at Children's Hospital Boston in 2006 and has been evaluated over the past few years.

"We think it should absolutely be a first-tier test for autism," said study co-author Dr. David Miller, assistant director of the DNA Diagnostic Laboratory at Boston Children's Hospital. "It is already being used, but it is not being used in every patient all over the country uniformly."

Study co-author Bai-Lin Wu of Harvard Medical School in Boston said CMA allows doctors to find the underlying genetic cause of 7 percent of autism cases.

"From the number itself, 7 percent does not look like a large percentage," Wu said. "However, there are a lot of kids being diagnosed with autism, so it is 7 percent of a very large number."

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Specifically, Wu explained, there are about 4 million births every year in the United States. Current statistics from the U.S. Centers for Disease Control and Prevention put the rate of autism spectrum disorders in American kids at slightly less than 1 percent. This would mean that about 40,000 per year would be expected to have autism spectrum disorders.

Wu said the tests currently used as a first-tier test for autism may only detect 2 percent of the genetic abnormalities that could be behind the development of autism -- meaning that using these tests, it may only be possible to identify genetic causes for about 800 of these children. Linking an additional 5 percent of these cases to a genetic cause would mean an explanation for 2,000 more cases of autism each year.

CMA Test Could Find More Autism Genes, Researchers Say

"Compared to [these tests], this one worked more than three times as effectively," Wu said. "This may mean we detect much more genetic changes that we have not been able to find yet."

What this could mean for parents is an end to the guilt that they may have harbored for their child's condition, said another of the study's co-authors, Dr. Leonard Rappaport, chief of the Division of Developmental Medicine at Children's Hospital Boston.

"As in most things in life, people search for the reason why something happened," Rappaport said. "Mothers are still blamed for their children's developmental problems by extended families, and families blame themselves for secret things they do not even reveal to us. As we find diagnoses that cause ASD, people will worry less about things, such as immunizations, despite there being no data to support them."

Autism experts not involved with the study agreed that adding this test to the current battery could help both families and doctors confront the risks and treatment of autism spectrum disorders.

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