Autism Research Leads to Gene Discovery That May Help Diagnose & Treat Kids

Health Check 6

Here is some extremely interesting news on the autism front: 25 newly identified gene variants have been linked to an increased risk for autism. A study conducted by the Children's Hospital of Philadelphia analyzed DNA from thousands of people with and without autism, and the researchers' findings may soon lead to the ability to predict the risk of autism in children.

Understanding autism’s genetic roots is a critical step, experts say, because it can result in earlier diagnosis and behavioral intervention -- which, ideally, can improve patient outcomes.

The goal of the study was to track down genetic markers of autism, and to that end, the Center for Applied Genomics at The Children's Hospital of Philadelphia collaborated with scientists from the University of Utah and the biotechnology company Lineagen, Inc. In some autism patients, researchers found additional copy number variations (CNVs), which are missing or duplicated stretches of DNA. These CNVs are described as "high impact": each has a strong ability to raise an individual's risk for autism.

According to the study's corresponding author,

Many of these gene variants may serve as valuable predictive markers. If so, they may become part of a clinical test that will help evaluate whether a child has an autism spectrum disorder.

Researchers say identifying these variants may be most useful for parents who already have one child on the autism spectrum -- if their second child has developmental delays, gene testing could help identify whether that child was also likely to be autistic.

Like most studies, there's nothing definitive about this one yet. It doesn't necessarily prove cause and effect, nor does it offer immediate options for existing autism patients. But it sounds like another step in the right direction of unraveling the maddening mystery of autism spectrum disorders, which the CDC says affect as many as one in 88 children in the United States alone. Understanding the complicated effects of these gene pathways will hopefully lead to better diagnoses, and perhaps even treatment options.

Had you heard about this study before? Do you think it sounds like another hopeful advancement in autism research?


Image via hepingting/Flickr

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astenken astenken

Most likely, this info will be used, like the genetic info on Down's Syndrome  was used, to abort any children suspected of having autism in utero.  90% of babies suspected of having Down's Syndrome are now aborted.  Finding the genetic marker did nothing ot improve those children's lives, or the lives of the other 10%, as now insurance companies refuse to pay for therapies (now typically covered for children with autism) for children with Down's because it is genetic.  This is exactly what will happen with children, like my son, who have autism.  Parents will get tremendous pressure to abort or else they will get no services covered to improve the children's lives once they choose not to abort.

Mommi... MommietoJB

I believe they have this testing already available, I was offered it for my second pregnancy because my older son is autistic but I did not have it done. I think its great if it can help in the cure and treatment of autism. The signs are pretty much prevalent early enough in age so I dont see how this is necessary. Its not easy raising a special needs child. But the thing is you never know how severly autistic your child will be from mild to severe. I see my son making improvements everyday, and I know he deserves a chance at life.

lasombrs lasombrs

Children Hospital in Boston is doing similar testing in children and all immediate members of their family. We have signed up to participate. I hope it eventually leads to a cure though I wouldn't do it just to "test" my younger child but want to help further the research

nonmember avatar Wake Up

Wow, so humans managed to actually change their genes in the span of 30 years? That's amazing. And a relief to know that it's not the various toxins with which we're abusing our childrens' bodies.



Seriously. Pull your heads out of the sand.

Anne Donoovan

We are all just just a science project they haven't found the cure for the common cold by being obsessed with the magical cure for autism and not focussing on your child/children holistically you are only setting yourself up for disappointment each person isn't the same one size doesn't fit all I'm a Mum of three wonderful boys all have some form of Autism Your main focus as a parent should be the their happiness and we humans mere mortals will never find that in a big house a big car lots of money in the bank fancy expensive clothes jewellery etc etc its a human failing and we all at some stage or other in our lives get caught up in that kind of neediness .we have all tried to fill the void with crap of one kind or other few can or will admit to it so for me personally to see them smile cry enjoy a walk a sports event whether they watch or take part in it dance in the rain play in the snow sit on a beach throw the ball paint read whatever be the best THAT THEY CAN BE and that should be all everyone's hope for kids with or without a special need

Courtney Barnum

My son took part in this testing. Glad to see what exactly is being learned from it :)

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