Wednesday, April 2, 2014
News Alert: There may soon be a way to genetically test children for ASD.
I read this right after scheduling a new round of genetic testing for Nick. Nick recently got a new doctor. When she reviewed his old medical files, she said “Interesting he has gene number, blah…that shows up in children with autism, he’s got one of the autism genes.” I just looked at her. No one had ever mentioned this to me! Nick had genetic testing done he was 3 and they were only looking at Fragile X, it was there but at the time no one knew what it meant. It was just a gene they noted. So, yes we know more and yes Nick is going to do another round of genetic tests. Yet the question that remains for me, the most important question is what will change? What difference will it make for him? Is this just more information building a path to nowhere, or somewhere for the benefit of children in many years to come? Don’t know, but its progress. Wish it was faster. For all the progress, the new science I just wish I could know that something might happen to preserve the wonders of Nick as a person with autism, and reduce the challenges that make so much of life unavailable to him.
So far, there have been "unprecedented advances" in the genetic study of ASD. Perhaps the most significant breakthrough of the past half-decade has been establishing the genetic basis of ASD in the first place, writes author James Gusella, Ph.D.
So far, researchers have identified hundreds of genes associated with varying degrees of ASD risk. Those genes also appear to be related to other neurodevelopmental disorders and psychiatric problems, writes Gusella. The hope is that these breakthroughs will open the door to research on the interplay between environmental factors and genes.
Currently, there is no standard blood/genetic test for diagnosing ASD. Instead, professionals evaluate a child's behavior for signs which include failing to make eye contact with others, repetitive play, sensitivity to everyday noises and a lag in motor skills.
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by SS Jeste - 2014 - Related articlesJan 28, 2014 - Published online: 28 January 2014 ... Autism spectrum disorder (ASD) represents a heterogeneous group of disorders ... We also present current clinical guidelines for genetic testing in ASD and ..... The AAN has not updated these guidelines, but in 2008 and 2013 the American College of Medical Genetics ...