Gene mutations linked to autism

Yesterday afternoon brought us news of a possibly groundbreaking advancement in autism spectrum disorder (ASD) research. For the first time, researchers have linked a mutation in specific genes to an increased risk for ASD. These findings come from three separate teams reporting in Nature.

First, the disclaimers: No, scientists have not discovered theASD gene. No, none of the gene mutations in question have been proven to cause ASD. And, these gene mutations we’re talking about, they’re super rare.

But, this is the first time scientists have been able to pinpoint certain gene mutations as possible contributors to ASD.

The researchers looked at de novo mutations in the DNA of children with ASD whose parents showed no sign of the disorder. De novo mutations in genes happen spontaneously prior to birth.

They concluded that a mutation on a particular gene was linked to autism if multiple children with ASD shared that mutation location, and none of the kids without ASD had it.

Read all about it at the SmartPlanet website here:

A Boy, Some Bullies and Autism

I’d like you to meet my nephew, Jessie*. He loves planes and waterskiing and the Yankees. He goes to sleep-away camp in the summer and skis fearlessly in winter. The rest of the year he works hard to keep up with the other kids in his fourth grade class. He’s fast with a hug, has the sweetest laugh, and just like any pre-teen, he gets a kick out of pulling a fast one over on his mom and dad.

Ever since the age of 18 months, he’s been the hardest working kid I’ve ever met—logging 40-50 hour work-weeks in speech, occupational and all other types of therapies, in an effort to better navigate the world with autism.

And what he wants more than anything in the world is something simple—an invitation to a birthday party or a phone call asking, “Can Jessie come over to hang out?”

But Jessie’s phone doesn’t ever ring.

Jessie is one of the growing numbers of children around the world with autism. When I say ‘growing numbers’ I mean drastically growing numbers, most markedly here in the United States. Last week the Centers for Disease Control and Prevention released new statistics for the incidence of autism in this country:  now, 1 in 88 children in the U.S. are being diagnosed with autism. It’s also being diagnosed in 1 in every 54 boys.

Read the whole story at the Bedford-Katonah Patch here.

Slideshow: A Visual Guide to Autism

Autism is a brain disorder that limits a person's ability to communicate and relate to other people. It first appears in young children, who fall along a spectrum from mild to severe. Some people can navigate their world, some have exceptional abilities, while others struggle to speak. Autism spectrum disorders (ASDs) affect about one child in 88, striking nearly five times as many boys as girls.

Source : WebMD : Click here to view the slideshow.

France's Autism Treatment Shame

In many countries the standard way of treating autistic children is with behavioural therapy - stimulating and rewarding them to develop the skills they need to function in society - but France still puts its faith in psychoanalysis. And an increasing number of parents are now demanding change.

For autism campaigners, it is one of the most serious health scandals of our times.

How for decades France turned its back on the latest scientific thinking, and treated autism as a form of psychosis.

How as a result tens of thousands of children were misdiagnosed - or not diagnosed at all - and consigned to lives of misery.

And how to this day in its approach to autism, the French medical establishment continues to believe in the powers of psychiatry and psychoanalysis - long after the rest of the world has switched to alternative methods of treatment.

"It is an out-and-out disgrace," according to Daniel Fasquelle, a member of parliament who campaigns on the issue.

"Every day I am contacted by parents with the same story - how their child's autism was not detected in time, so they never had the treatment that they needed.

"Thousands of children could have been saved. They do it everywhere else. Why not here? It is France's shame."

Original story can be found at the BBC News Magazine site by clicking here.


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