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. 

News Alert: There may soon be a way to genetically test children for ASD. 
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.
Additional links if you want to learn more....

  • Autism News -- ScienceDaily

    Science Daily
    Read current research on autism including early diagnosis of autism spectrum ... 21,2014 — The same gene family that may have helped the human brain ...
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  • Missing Genes More Likely in Those With Autism | Psych Central News › News › Technology News

    Oct 5, 2013 - Researchers have discovered that people diagnosed with autism spectrum ... “This gives us the power, for the first time, to run one test from a blood ... 2014, from ...
  • Researchers discover a potential cause of autism - Newsroom › News › 2013 › August

    UNC Health Care
    Topoisomerase inhibitors reduce the expression of long genes in neurons, including a remarkable ... Wednesday, August 28, 2013 ... and potentially lead to autism spectrum disorder (ASD), according to research published today in the journal Nature. ... 2014University of North Carolina at Chapel Hill School of Medicine.
  • Autism News from Medical News Today | Page 1

    Medical News Today
    24 Mar 2014. Language development aided ... New APA autism guidelines 'reducediagnosis by more than 30%'. 26 Feb 2014 ... New research underscores the geneticcomplexity in schizophrenia. 24 Jan 2014 ... 5 Dec 2013. Brain circuitry ...
  • New genetic test may improve autism diagnosis |

    SALT LAKE CITY -- A new genetic test may lead to a more accurate diagnosis for individuals with autism spectrum disorder by looking ... Posted on: 4:35 pm, February 24, 2013, by Mark Green ... Viewer Photos: March 2014 · shaming-400x225 ...
  • Network News: Gene Discoveries for Autism | NIH Director's Blog

    National Institutes of Health
    Affecting an estimated 1 in 88 U.S. children, autism spectrum disorder (ASD) is a ... Posted on December 3, 2013 by Dr. Francis Collins .... did the chrome X Testing and other things but rule out any genetic cause….any info would be appreciated ... 2014;DNA Analysis Finds New Target for Diabetes Drugs March 11, 2014 ...
  • DNA Shows Washed Up Remains Match Autistic Teen Avonte ...

    Jan 21, 2014 - Avonte Oquendo had been missing since Oct. 4, 2013. ... 21, 2014 that remains found along the East River are a DNA match. ... But, he added, Avonte's mother was awaiting DNA test results before jumping to conclusions.
  • HealthDay - Genetic Disorder News

    Gene Study Offers Clues to Why Autism Strikes More Males ... to prevent genetic diseases in children, the procedure raises ethical issues. 2/19/2014 ... Genetic test for deadly condition spotted healthy embryos for implantation, ... 12/30/2013 ...
  • Disentangling the heterogeneity of autism spectrum disorder ...

    by SS Jeste - ‎2014 - ‎Related articles
    Jan 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 ...
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