New information on Autism

[vicki]

Researchers: New Understanding of Autism Near (http://www.newsday.com/news/local/nassau/ny-hsauti125331613aug14,0,508261.story)


Michael Wigler... at Cold Spring Harbor Laboratory, believes he and his colleagues are on the cusp of understanding why autism occurs and how some families can be affected more than once. Wigler and his team have discovered how certain spontaneous genetic mutations are relatively common and how they can be passed on by very healthy parents to their offspring. Frequencies of the mutations increase, the team found, as people age.

Last month, the Cold Spring Harbor team developed a grand unification theory that stitched together previous notions about the genetics of autism and demonstrated how DNA variants - often transmitted from mothers to sons but not exclusively so - may lie at the disorder's roots. Boys are three times more likely than girls to develop autism, Wigler said.

He's calling on the CDC to use laboratory techniques similar to the ones he and his Cold Spring Harbor collaborators have developed to assess the prevalence of autism-related mutations in the U.S. population. Screening would help provide guidance on the rate of autism's growth in the population, he said.

[jtb1951]

Last month, the Cold Spring Harbor team developed a grand unification theory that stitched together previous notions about the genetics of autism and demonstrated how DNA variants - often transmitted from mothers to sons but not exclusively so - may lie at the disorder's roots. Boys are three times more likely than girls to develop autism, Wigler said.

This is a topic very close to my heart; of my 15 nephews, 4 of them (spread over two families) have been diagnosed with varying degrees of autism. My youngest sister, whose older son was diagnosed five years ago, has become a fervent autism awareness advocate within the State of Illinois, and has testified before the state legislature trying to raise support for educational and financial aid for autistic children. In addition, among my 15 first cousins on my mothers side of the family, at least six of their children have been diagnosed with symptomatic autism. As a consequence, I need very little convincing about the putative genetic aspects of autism, and I hope and pray that the near future holds the promise of the development of gene therapies that may ameliorate or even erase the developmental symptoms of autism in children. Thank you for listening!

John.

[2maple]

Interesting...Just curiousm, how much of this may be caused by the trend in having children later in life (in the 30's or even early 40's v the 20's?) where the percentages of all kinds genetic errors/damage are higher?

It would be an interesting comparison...compare the trend in the age of child birth to the rise in autism...hmmm....

[vicki]

This is a topic very close to my heart; of my 15 nephews, 4 of them (spread over two families) have been diagnosed with varying degrees of autism.
...
In addition, among my 15 first cousins on my mothers side of the family, at least six of their children have been diagnosed with symptomatic autism. As a consequence, I need very little convincing about the putative genetic aspects of autism


Oh, man. Your family really got hit with it. :(

My youngest sister, whose older son was diagnosed five years ago, has become a fervent autism awareness advocate within the State of Illinois, and has testified before the state legislature trying to raise support for educational and financial aid for autistic children.

Wow--my hat's off to her. Although it's been hard to go through the diagnosis and therapy process with my child, I've met a lot of incredible and supportive parents I might have never met otherwise--those who, like your sister, are devoted to helping other families coming through the same process and to fighting for better resources and responses to these disorders.


I hope and pray that the near future holds the promise of the development of gene therapies that may ameliorate or even erase the developmental symptoms of autism in children.



I'm not "Pro Cure". I am I guess a fence sitter btwn the neurodiverse crowd and the cure crowd, since all I want is decent education and teachers. Independance and acceptance.


There is a terrific book called The Speed of Dark by Elizabeth Moon (who is the parent of an autistic boy), written mostly from the point of view of an autistic man. He becomes eligible for a treatment to cure his autism--at great potential risk. It's so interesting and thoughtful, and it left me feeling ambivalent about a cure, at least in cases of high-functioning autism. There would be much to gain, to be sure, but there would also be much to lose--unique traits, features and abilities that are related to the condition.


Also, it's not just genetics. Had it been that, they would have the same dx. I'm convinced prenatal care/high bp was also to blame.



I've heard it said that genetics may load the gun, but environment pulls the trigger. Maybe many cases of autism are like that. There is also a theory that there are "many autisms," which have similar core symptoms, but have different causes and secondary features. If so, maybe some forms of autism are more directly related to genetic features than others.


Have you ever found the Autism Acceptance Project. Don't have the link handy. But Estee's blog is http://joyofautism.blogspot.com (http://joyofautism.blogspot.com/).



I've heard a little about this--thanks for the link!


Just curiousm, how much of this may be caused by the trend in having children later in life (in the 30's or even early 40's v the 20's?) where the percentages of all kinds genetic errors/damage are higher?


It is interesting. Looking at how the risk factor for Downs rises with age, it makes some sense to analogize to other nervous system conditions. I had DS when I was 29, but a generation or two ago, I'd have probably had my first child at 23 or 24. And a few years can make a difference, I expect.

[vicki]

My kids were born at 29 and 31.


Mine too! DS was my first and DD arrived when I was 31. He has Asperger's and severe ADHD, and she has mild ADHD.

My understanding is that most researchers seem to think that autism is probably caused by a combination of genetics and environmental factors. That makes sense, given that a lot of "autistic" traits are sometimes found even in the neurotypical population, albeit in milder form.

Did you know that Temple Grandin actually has autism, rather than asperger's? She didn't even talk until she was three and a half, whereas asperger's kids start developing language skills at about the same time that neurotypical children do. It's astounding what she's been able to accomplish, both in spite of and because of her autism. For one thing, she can stand up in front of thousands of people and deliver a heck of a speech. I saw her talk in front of a packed house at the Alabama Autism Conference a couple of years ago, and she was a first-rate public speaker. Not many neurotypical people could hold a big audience mesmerized like that for 30 minutes. She rocks!

I would agree that the traits and strengths found in people on the autism spectrum are indispensible to society, but I do hope for some sort of help or mitigating treatment, at least for those on the severe end of the spectrum, as they are doomed to dependence and isolation without some way to improve their condition. We need a way to promote independence and self-fulfillment in autistic people, without destroying their unique traits and abilities. The Speed of Dark aptly illustrates the downside of a "cure" for autism. If anyone has read this or is interested in reading it, I'd be interested in starting a thread to discuss it.

[vicki]

Thanks, Sheri! And if you ever want to borrow a copy of The Speed of Dark, I'll be happy to send you mine.

[vicki]

I have quite a few teaching and parent-training books, myself. Maybe we can compare notes sometime. Some of the tips and lessons work well with any child. One book in particular--The Explosive Child, turned out to be much more helpful with my DD than with DS, as she has a much more volatile temper. We have some photographic social stories books that have been very helpful with DS.

[The Grey Badger]

My kids were born at 29 and 31.

If genetics becomes the only "reason" they give for Autism... I think that would be a catastropy. All those children that you have no idea just how severe they may or may not have been.

As Dr Temple Grandin said in her presentation (and she has Asperger's). "If it wasn't for us geeks, nothing would be built".

How very true. And she doesn't feel she's been "wronged" either by her autism, it's just a part of who she is.

S.

So right! And what would the world since 1980 be without the likes of Bill Gates?