Researchers closer to a more accurate diagnoses of autism

Researchers are saying that thanks to all of the advances in genetic testing, care tailored to people with autism is on the brink of blossoming.

People diagnosed with autism spectrum disorder (ASD) tend to have difficulties with social, emotional and communication skills and also are known to repeat certain behaviors and go about learning in different ways from the rest of the population, according to Reuters.

“Ultimately, what we want to do is subcategorize different forms of autism so we can give specific kinds of treatments,” said study author Stephen Scherer, of the Hospital for Sick Kids in Toronto.

Scherer and his colleagues observed 258 unrelated Canadian children that were diagnosed with ASD by way of “chromosomal microarray analysis.” This type of diagnoses searches for duplicated and also missing segments of a chromosome where the genes are located.

They found that 9.3 percent of them did have random or inherited genetic mutations that would normally be a good indicator that they had ASD. Some of the children, 95, were checked out with one of the most extensive genetic tests created which is called the whole-exome sequencing. With this tool they found that 8.4 percent had genetic mutations.

As they combined their findings, and the results were added up, they found mutations in 15.8 percent of the total group. They also had an overlap where two of the children had positive findings on both tests.

“You need to do both tests, because they produce non-overlapping data,” Scherer said.

The team also tested the group for physical abnormalities in which they found that 37.5 percent of the group that had the most abnormalities also had genetic mutations that explained their ASD. And that was only true for 28.6 percent of kids with moderate physical abnormalities and then 6.3 percent of those with the lowest of abnormalities.

This information led the team to believe that in the future, there might be a physical exam that could aid in helping predict which children with an ASD are more likely to have underlying genetic mutation.

Dr. Catherine Lord who directs the Center for Autism and the Developing Brain (CADB) at Weill Cornell Medical College and New York-Presbyterian in New York City said that there is a growing number of parents who would prefer to know what the chances are of another child of theirs being born with an ASD. She added that as of right now, the genetic results are not helpful enough to hand out that kind of information.

“In terms of what this is going to do to change a child’s life, in many cases it’s not going to change much,” she said.

But overall, the information that is being analyzed will prove to be a positive step toward being able to learn more about the detection of an ASD in the future.

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