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New Blood Test for Children With Autism

Researchers identify gene ‘signature’ that verifies the disorder (Dec. 6)

New research from Boston Children’s Hospital shows that it may be possible to identify children at risk for autism spectrum disorders (ASDs) through a blood test, making screening faster, easier, and less expensive than other ASD tests.

Currently, ASDs are usually diagnosed through careful assessment of a child’s behavior. For the most part, that’s an accurate diagnostic technique, but its main drawback is how long it takes. An accurate behavioral assessment can only take place at an age when most children have developed a long list of language, communication, and other social and interpersonal skills. Since these skills take time to emerge naturally, most children in the U.S. aren’t fully diagnosed with an ASD until they are at least 5 years old.

A simple blood test that could identify an ASD genetically could be given to children much earlier in life, allowing earlier diagnoses and interventions, possibly even before symptoms develop.

The researchers analyzed blood samples from 66 children with ASDs and compared them with samples from 33 children without ASDs. The investigators were looking for clues that could identify differences in gene activity in people with and without ASDs. The team found a 55-gene “signature” that was able to correctly identify or rule out autism in 68% of samples — which is more accurate than most current tests involving genetics.

“It’s clear that no single mutation or even a single pathway is responsible for all ASD cases. But we can say with about 70% accuracy ‘this child does not have autism,’ or ‘this child could be at risk,’ putting him at the head of the queue for early intervention and evaluation,” says Isaac Kohane, MD, PhD. “And we can do it relatively inexpensively and quickly.”

More research is needed, however, before this type of testing becomes common practice, the investigators say.

Source: Boston Children’s Hospital; December 6, 2012.

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