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
www.sciencedaily.com/news/mind_brain/autism/
Science Daily
You've visited this page many times. Last visit: 2/23/14
Missing Genes More Likely in Those With Autism | Psych Central News
Researchers discover a potential cause of autism - Newsroom
Autism News from Medical News Today | Page 1
www.medicalnewstoday.com/categories/autism
Medical News Today
New genetic test may improve autism diagnosis | FOX13Now.com
fox13now.com/2013/.../new-genetic-test-may...
KSTU
Network News: Gene Discoveries for Autism | NIH Director's Blog
directorsblog.nih.gov/2013/.../network-news...
National Institutes of Health
DNA Shows Washed Up Remains Match Autistic Teen Avonte ...
newyork.cbslocal.com/2014/.../dna-shows-washed-up-remain...
WCBS‑TV
HealthDay - Genetic Disorder News
consumer.healthday.com/...and.../genetic-disorder-news-332/
HealthDay
Disentangling the heterogeneity of autism spectrum disorder ...
www.nature.com/nrneurol/journal/v10/.../nrneurol.2013.278.html
Nature
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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