Genetic Testing for Autism? It May Be Possible Sooner Than You Think


What if there was a way to provide parents with a better way of determining whether their child had a cognitive impairment like autism? That’s exactly what a group of researchers in Canada were wondering, and they believe they may have finally found an answer.

Dr. Bridget Fernandez and a group of researchers at the Memorial University of Newfoundland first discovered that a certain group of genes are present in nearly 16% of people with autism. That may not seem like a huge percentage, but the team realized that it was enough of a coincidence to justify doing further testing, Tech Times stated.

When the researchers created specific tests to look for and analyze these same genes in a variety of children, they found that children with certain physical abnormalities — birth defects which were developed in the womb — were also likely to have these same genes. In fact, the researchers discovered that 38% of children with these birth defects had the very same genes.

The connection between these two groups is closer than some might believe; people who are on the severe end of the autism spectrum often have physical impairments, the Huffington Post reported, and these impairments are often linked to genetic mutations.

It’s estimated that one in every 68 children in the U.S. lies somewhere on the autism spectrum; many children only experience mild symptoms, making it difficult for parents and medical professionals to determine if autism is, in fact, the cause of certain cognitive difficulties.

However, as TIME reported, autism is traditionally diagnosed after children already begin some of the most important developmental stages of childhood; a series of behavioral tests, along with analysis of whether or not the child reached certain learning milestones at the average age. Without knowing that their child suffers from autism, parents often overlook the special needs of a young child with autism.

A genetic test similar to what the Canadian research team created won’t provide answers for the majority of parents wondering if their child has autism — but even if it can provide some insight for just 16% of parents, the researchers stated that it is valuable.

Of course, it’s important to remember that a diagnosis is only the first step for effective treatment; helping a child learn to adapt to his or her cognitive processes is something that parents and educators often find to be overwhelming.


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