Scientists identify gene mutation in autism

French scientists have identified genetic mutations in a small number of children with autism which could provide insight into the biological basis of the disorder.

They sequenced a gene called SHANK3 in more than 200 people with autism spectrum disorders (ASD), which includes autism, and found mutations in the gene in members of three families.

ASD covers a range of problems that affect communication, social interaction, verbal skills and behavior.

"These mutations concern only a small number of individuals, but they shed light on one gene ... that is involved in autism spectrum disorders," Thomas Bourgeron, of the Pasteur Institute in Paris, said in a report in the journal Nature Genetics.

http://news.yahoo.com/s/nm/20061217/hl_nm/france_autism_dc_1

I wonder if Austism is a more complicated disease than a single gene mutation. There is already statistical indications that older than average parents are more inclined to produce children with Autism than younger ones. Or possibly a case where this gene is important, but other factors can influence it.

L-

The brain is extraordinarily complex and has undergone extreme growth in the past 6 million years since we diverged from our common ancestor...many disorders arise from bad mutations in any gene, though, related to the brain and its growth.

But nothing is completely conclusive about that

http://www.washingtonpost.com/wp-dyn/content/article/2006/09/04/AR2006090400513.html
Autism Risk Rises With Age Of Father
Large Study Finds Strong Correlation

<snip>
The new study presents an intriguing new avenue for research, because it suggests that genetic traits passed along by fathers, as opposed to mothers, may play some significant role in creating susceptibility to autism. Several other studies have suggested that older parents of both sexes are at greater risk of having children with developmental disorders. Three earlier studies looking at the relationship between paternal age and autism have produced mixed results; the new study is the most rigorous analysis conducted to date.

Is it more likely that people who marry and have children later in life pass on an autism gene because of their age or is it more likely that geeky people (like me) marry and have children later in life?

that.

there has also been a debate about genetic influences on autism and autistic spectrum disorders, but now this seems to be the step towards identifying it.

Blue

Not the unproven (and unlikely) "spectrum autistic disorders" that everyone in the US is going bonkers about these days, to which the torch of "pathology du jour" has been passed (from ADHD).

"ASD doesn't exist" must be the new version of the "ADHD doesn't exist" moranism. :grr:

Sorry, I may have been unclear. There are definitely people who seem to clump into a group that are often labeled as Asperger's - they are typically high-IQ but have issues with social interaction.

However, unless something has changed in the last year or two, there is no science whatsoever that Asperger's is related to Autism. In fact, since the IQs of people with Autism and Asperger's seem to cluster at very, very different points on the IQ scale - 80%+ of Autism victims are mentally retarded, while people with Asperger's seem to typically have IQs of 120 or above (at least all the ones I know - I've never been able to find a paper on this). Epidemiology 101 tells us that clustering in different places tends to indicate a totally different condition, rather than a "spectrum" of a single condition.

At best, trying to fit folks with Asperger's into a hypothesized "Autism Spectrum" is a waste of time, money, and energy. At worst, it could harm folks by indicating the wrong treatments (although there are no scientifically-validated treatments for anything on the "Autism Spectrum" anyway...).

I work with disabled kids, some having Asperger's, some with Autism, some with Rett's, all of which are part of the spectrum. The difference in all of those is the person's functionality. Asperger's is Autism higher-functioning brother, so to speak. I work in-home with a kid that has this, along with various other problems, and he's one of the smartest kids I know. I also work at a respite with a little girl who has Rett's and he's like an 80 lb infant most of the time. It all really depends on how higher or lower functioning they are.

Rett's is another actual (not very common) syndrome. I don't believe that there's any science that links it to Autism - but I haven't actually looked at that. At have looked at Asperger's - as of a year or two ago, there was zero science linking Asperger's and Autism.

they can't decide whether it's high-functioning autism or Asperger's. Thing is, to get a differential diagnosis between the two, you look at IQ subtest scores: if the verbal exceeds the performance (nonverbal), it's Asperger's, while in autism, it's the reverse. And both of my scores were off scale.. :P

edit: It's official! I'm a mutant! :sarcasm: At Yale (yes, that Yale) I was part of a loose association of counterculturalists called the Mutants; our symbol was a happy face with one eye in the center, like Leela on Futurama.

Most people with Autism don't fit the mentally retarded "Rain Man" sterotype.

He does, however, have a Wiki page, which is more than I can say!

http://en.wikipedia.org/wiki/Kim_Peek

Kim Peek (born November 11, 1951) is an individual diagnosed with Savant Syndrome with a photographic or eidetic memory and developmental disabilities, resulting from congenital brain abnormalities. He was the inspiration for the character of Raymond Babbit, played by Dustin Hoffman, in the movie Rain Man.

Kim Peek was born with macrocephaly, damage to the cerebellum, and, most importantly, agenesis of the corpus callosum, a condition in which the bundle of nerves that connects the two hemispheres of the brain is missing; in Peek's case, secondary connectors such as the anterior commissure are also missing. There is speculation that his neurons make other connections in the absence of a corpus callosum, which results in an increased memory capacity.

According to Peek's father, Fran, Peek was able to memorize things from the age of 16-20 months. He read books, memorized them, and then placed them upside down on the shelf to show that he had finished reading them, a practice he still maintains. He reads a page of text in about 10 seconds (about a book per hour) and, apparently, remembers everything he has read, memorizing vast amounts of information in subjects ranging from history and literature, geography, and numbers, to sports, music, and dates. He can recall some 12,000 books from memory. Peek can also do formidable calculations in his head, a skill that serves him well in his day job, where he prepares payroll worksheets. He has worked at a day workshop for adults with disabilities since 1969.

So if IQ isn't an accurate measure of intelligence, it's not a good idea to assume that it's accurate in assessing what is autism and what isn't.

There are types of high-functioning autism that are not Asperger's that also do not involve mental retardation. That fact isn't always accepted by people who have been trained to judge mental retardation primarily upon a person's ability (or lack of) to conform to societal norms. Many scientific studies have shown that the "issues with social interaction" a person with Asperger's have are a matter of perceptual ability, not intellectual ability - the same as with other types of autism.

Back when the famous autistic zoologist Temple Grandin was a kid I bet most people assumed she was retarded, well turns out she wasn't, she just had problems functioning in society and so just came across as retarded. The mix-up between intelligence and understanding societal norms is the same bad reasoning that lead to racism, people ignorantly assumed that because natives didn't understand Western societal norms that it ment that the natives were stupid (since after all, those westerners though thier norms were normal), it's the same with people's attitude towards autistics.

to do well on an IQ test, and people along the autistic spectrum have trouble with, you guessed it, communication! Once a way can be found for them to communicate, the so-called retardation disappears.

Once my two-year-old was introduced to PECS (a flash card communication system), his intelligence really started showing. He understood the concept immediately, and all of a sudden, his world opened up for him. He could tell me when he was thirsty or hungry, or when he wanted his teddy bear, and even better, we as his parents and teachers could understand his wants and needs. The tantrums and frustrations we had experienced on a daily basis subsided almost overnight.

After doing my own research into autism and the autistic spectrum, I strongly believe that it's not about mental retardation at all.

see the connection.

And maybe you didn't read the article:

"...In all three families identified in the study, the researchers found they had various types of mutations in the gene. Two brothers in one family had small deletions, while another child in a different family had significant deletions.

A girl with a deletion of SHANK 3 in the third family suffered from autism while her brother, who had an additional copy of the gene, had a mild form of autism called Asperger syndrome."

I usually don't click on autism threads anymore because the anti-vacciners just invade and refuse to listen to reason.

This is really good news. There just has to be a genetic cause for autism. It is the only thing that makes sense.

It's actually the pro-merc people that are always the first to pipe up and totally hostile to anybody questioning vaccines at all.

There is nothing here that doesn't say mercury can't trigger certain things, or make them worse.

but rather that is not what causes autism.

I just really really resent the "stop yapping" bullshit...before anybody said anything...I know what my experience was and many other parents I know felt the same way. I never post on autism threads because of this kind of hostility, but in this case you didn't even let that thought be expressed before slamming it.

The danger in this bad vaccine talk is that some parents then reject vaccines. I am old enough to remember polio. It's not a minor disease and it can kill. My sister is legally blind from measles.

Besides, the mercury has been removed from vaccines. So to make the (false) allegation that vaccines cause autism is completely irresponsible.

they took the merc out, but too late for my family. I'm not telling people to not have any vaccines ever but to be informed. Just because the doctors tell you to do something doesn't mean you just blindly do it without asking any questions. My mom resisted the hormone therapy that for YEARS they told EVERY post menopausal woman to have; now they say it increases breast cancer. Her neighbor died suddenly at age 57 after taking Vioxx. Ask questions and ask different doctors what they think.

I don't think children should be exposed to high levels of mercury in food or medicine, wow I'm such a moonbat.

It was removed several years ago.

Despite my showing her several studies showing no definite correlation. It's just one of those myths like no swimming 15 min. after eating.

in her child like I did.

After our boy turned 3 and he wasn't talking, we started to look for answers...

We didn't get the diagnosis until he was 5.

That's the type of thing that really discourages people from educating themselves on what is put in their children's bodies. Just let the doctor do whatever and don't ask any questions.

That's what I did, but I regret it.

i have an aspie son -- my husband has lots of aspie traits and i have more than a few myself.

we were older when we had him (1 was 39 - my hubby 46.) i notice quite a few older couples
with asperger's or autistic kids

probably environmental factors -- vaccines too. all together in an unholy soup.

i have been a vegetarian for 13 years -- hadn't eaten fish for several years before i had my
son. i often think that, if i'd eaten a lot of mercury-tainted fish, my 8 year old son could
be staring at walls, seemingly uninterested in human contact. instead he is a brilliant,
charming, lazy little gem who loves kisses, talks like a grownup and has trouble making friends
with kids.

i consider myself darn lucky, though it amazes me that people ever decide to have kids, seeing
the dramatic things that can go wrong sometimes. it's lucky we forget, or we'd be extinct by
now...

The problem is when parents can't accept their child's limits. At that point, the parents are the larger problem, not the impairment.

I have a slightly impaired student, but his real problem is his mother's denial, smothering, and excusing. He's spoiled rotten, giving him little chance of developing coping mechanisms. He'd be fine if his mother would listen and let him be a regular kid.

So, when people talk about over-using the label to excuse their kids, they're not talking about people who really work hard to overcome a serious impairment. Some people have a serious set-back, and it shouldn't be confused with the ones who don't.

they've all been great! i know that they have a great deal more
experience than i have. it's bad for everyone to assign blame
in cases like this. it takes too much energy away from trying
to make the best of the situation!

my son's current teacher is a real gem! the only problem is
that he's in with gradeschool kids -- grades k-5. i don't know
how his teacher survives with students of differing abilities
and ages, and they keep adding more and more students! i wish
i could afford to send him to a school with more kids like him.
a lot of the kids in his class aren't as academically ahead as he
is, and it causes some resentment...i hope i can make better
arrangements as middle school and high school approach ... i know
that's where the real challenges lie...

i admit that my son is spoiled. he's one of those "have to have
the complete set" obsessive types. at least the things he likes
are rather small! action figures and such. i won't let him
NEAR a gameboy. if he goes in there, he'll never come out again!

I think that had something to do with my daughter's autism, as well as the shots she got which did have the mercury based preservative in them. They seemed to have triggered a lot of behaviors in her, like turning on a light switch almost when she got that batch of shots.

i was using fluoride mouthwash, was that it?

i had several miscarriages, was nature trying to tell me
something?

i let them give my son a hepatitis shot the DAY HE WAS
BORN. what on earth was i THINKING?

i try not to feel guilty for what i did -- people who
mistreat their bodies in all types of ways have average
kids. it's hard, though. it's just that some of us
have more problems to live with than others, i guess.

all we can hope is to be strong enough to make the
best of them!

But they didn't when I was pregnant...shit...I ate the sandwiches from downstairs at work like 2, 3 times a week.

We are really surrounded by poison 100 different ways, the autism rate increases and people shreik at you for wanting to look into why.

As far as age goes, I find it unsurprising that people with "aspie traits" marry and have children later. I also find it unsurprising that there's a genetic component.

i knew that i had a lot of socialization problems in school,
and that my hubby is a complete nerd who is kind of
challenging to get along with, but i had never heard of
asperger's!

i guess when you get it from both parents, it magnifies
the effect.

That sounds like it has very poor support for any correlated relationship.

They're not correlating the mutation with all cases of autism.

had an inborn defect that made it harder for them to clear mercury from their bodies. Wonder if the genetic error these researchers found could be connected? Anyone know?

has less mercury in it so maybe they are not expelling it.

about 10 years ago or so my cousin and his wife had quadruplets. Identical Twin Boys and Fraternal Twin Girls. One of the boys is a Savant type autistic. 6 years ago my best friend had Identical Twin Girls. One has Autism, though not quite as bad as my cousins boy. She will actually say a couple words and likes to be held.

Two extremely different families (one upper-middle class, very educated and the other blue collar-working class)who live very different lives both with an autistic child from a set of Identical Twins.

Anyway.... those are the only two people I know with Autism.