Tuesday, October 17, 2006

Gene Mutation Linked to Risk of Autism

Autism is a disorder that causes social deficits, language impairment and repetitive behavior. Its reported incidence has increased sharply in recent years, perhaps because of more awareness of the condition.

The incidence of autism itself is estimated at one in every 500 American children, and the rate of autism-related conditions is as high as one in 166.

A new study from Vanderbilt University in Tennessee found that a mutation of the portion of the MET gene that governs the production of its protein was associated with the risk of autism. The strongest association of the mutation to autism was found in families with more than one affected child. The study of more than 700 families with autistic children found that this gene mutation that decreases the production of a protein designated MET more than doubles the risk of the disorder.

This study will be featured in the upcoming Proceedings of the National Academy of Sciences

Technology is amazing!


~Deb said...

There are people who have children that have Autism and don't know it? Or do they just accept that there's some sort of disorder, and it goes undiagnosed?

Ian Lidster said...

I wonder, Deb, how loosely autism should be defined? In other words, are there degrees of autism sufficient to suggest that we might all have some mild form or other? While of course there is genuine autism, no doubt, I get wary when a diagnosis becomes too prevalent. A couple of years ago I interviewed a young woman for a news story who allegedly had 'aspergers' (autism-related) and yet I detected nothing in her bearing, affect, intellectual scope or charm that would suggest she was in any way afflicted. In other words I preceived nothing that should have kept her from being a fully-functioning adult.
Just some thoughts, my dear friend,

princessdominique said...

I've always wondered about this disorder and especially why there seemed to be so many more cases of it lately. I don't remember one autistic child growing up in the 60's unless they called it something else.

OHN said...

Very interesting. Our oldest had some unusual quirks when he was little-being our first child we thought it was normal. Once the others came along we realized that #1 reacted differently to certain fabrics, sound, visual and auditory sensitivity etc. It wasn't until he was 17 that our FMD said son might have a form of autism. Son is very very smart, honors student, but very uncomfortable in social settings (immature). He is now on Depokote and Zoloft and says he feels "normal" now. I feel so guilty that it took that long for us to discover his problem.By the way, son is adopted, he became ours when he was 3 weeks old. I wish I could find out if anyone in his birth family had any of the same symptoms.

Andrew said...

You're right Deb, technology is incredible. This field of genetic research is only in its infancy. I bet we'll be amazed in 30 years by what we will know then that we don't understand today. Thanks for the interesting article.

Wanda's Wings said...

Very interesting. How closely related to Persvasive Developmental Disorder is this?

Sarebear said...

I would imagine that many don't really know what's up . . . in my daughter's case, she was 6 before she was diagnosed, so it was just last year (altho she turns 8 this month.)

High Functioning Autism. you'd be surprised, most people wouldn't have a clue that she's autistic, but there ARE problems in processing and alot of the sensory integration dysfunction part of things.

I'm grateful that she's so high-functioning, altho on the other hand that makes it seem like I'm coddling her, when I'm actually just accommodating the ways she processes things differently, and interfaces with the world differently . . . Especially when it comes to how she gets upset when things are different than she was told or usually are, or thought they'd be. The autistic brain has problems with those types of things.

I LOVE my daughter so much, and while I wish she didn't have this challenge in her life, I love who she is, all of her, and autism has shaped how and who she is. Her extra innocence (you know how younger kids are more innocent? It's like my daughter gets to hold on to that for longer) is so endearing. She is the most beautiful person I know, and she talks up a storm . . .

She definitely takes people aback, the ones I tell about her autism anyway, because they thought, like I did until shortly before she was diagnosed, that autism was a mostly to no talking, and other things . . . she is VERY talkative and a great reader.

Sorry to go on and on, but this subject is very close to my heart.

Autism awareness needs to be raised more, and more is being done, and much more research is needed.

I know that it's been frustrating that, til now, genetic sources and other stuff about autism has defied research. So this is definitely good to know . . .

Although it discourages me, as far as causing more worry about having another child. I already knew that, with a nephew w/Asperger's, a nephew who is on the middle or just higher than the middle of the spectrum, and my daughter (that's all of my parent's kids who've had kids so far) that the odds are there for likelihood of autism . . my two siblings have three kids each, and one out of each set of three has autism or a related disorder. I have one child, and while I'm hoping that means odds are my next one won't be, stats don't work that way . . . here's hoping, though.

Yes, I love my daughter and who she is, I love all of her, even how she is with her autism. But I would not wish for it.

Thanks for this post, Deb. If you ever see any more research on this, I hope to either see it posted or you could, if you had time and inclination anyway, email me. But I understand that you are busy.

It is clear to me, from seeing, over time, that the ways in which my daughter processes things and interfaces differently with the world, that there is a "miswiring" in the brain. So I think that autism, high-functioning autism, even so high that most would be astonished to learn so, is definitely a real thing. There is a subtleness about it, and yet, over time, an obviousness that there is a differentness to the way she's wired, than the way people process and interact/interface w/the world.

Wanda, PDD, and PDD-NOS, are sometimes used as diagnoses when the doc doesn't want the child to have the label and sometimes perceived stigma of autism. Although, for IEP's and other accommodations under the disabilities act, they need the autism diagnosis.

I'm not saying that most or all PDD diagnoses are this, but it happens sometimes.

I know that it can't be well generalized from just my nephew and just my daughter, but let me say what I can from seeing his Asperger's (diagnosed at 15, he's now 18) and my daughter's high functioning autism.

I know that the spectrum has a wide range of behaviors, processing problems, etc. I know that every child is very unique in many aspects of these disorders. At the same time, I notice many differences on a processing and sort of "brain wiring" level (it turns out the way I think about these things has been particularly good at preventing an anxiety disorder from developing in my daughter, so my thinking is on the right track, as it relates to what I sense about her and how I use that to relate to and teach her and mother her and stuff). They both have social processing problems, but in different ways (yes, that difference could just be chalked up to being different people on the spectrum, but their . . . the MANNER of the mis-wiring intuitively feels and seems different to me; again, I seem to have good instincts for this, or so the psychologist assessing daughter told me). My nephew just doesn't "get" that talking about only himself and his interests, and over-doing it big-time on his interests, especially inappropriately graphic descriptions of graphic violence in video games, is not socially kosher. My daughter, while perhaps too young to assess that, is interested in and concerned about other people; my nephew seems to be "missing" this, although not to anything like a sociopathic level . . .

It really is difficult to explain, but they feel like cousins, disorderly speaking, without being the same thing. Alot of people want Asperger's and high-functioning autism to be listed as the same thing, but I disagree. The "feel" of my nephew's problems interfacing with the world and people, and my daughter's, feel very different, for having some somewhat related items.

Sorry to go on so long. This is an important subject to me. Was answering some of the comments in these last couple paragraphs of mine.

Anonymous said...

A genetic cause. Autism and how many more psychiatric conditions? Maybe in years to come we will understand it all.It just can't come soon enough.

Id it is said...

Informative links. Thanks.
The current issue of Time has a very interesting article on Autism, which to me was an eyeopener.

Jade said...

Very interesting, my partner and I were just talking about our lack of knowledge about Autism, and it seems like recently I've been hearing quite a bit about it. Thanks for the info.

moonrose2u said...

intersting observations. As a medical professional also, I have a couple of questions though.

Do you find that children are often labeled with 'sensory integration' disorder when, in fact, they have autism? Or they both and the same disorders? How do you think they are different, and does that impact the course of therapy or approach to treatment?

I am aware that the press has promoted an idea that immunizations are a possible 'cause' (parents must have somthing or someone to blame an illness or condition on) however, what are your thoughts about an increase of autistic patients who are born via in vitro? Would that be a viable train of thought?

Finally, do you recall the MD (vet I think) out in the midwest who was severely autistic 'came out of it' so to speak in order to further her education and career by developed some sort of contraption she crawls into that hugs her body tightly? i remember from the documentary that she stated that a person must feel the pressure against their body to feel safe and secure. Very interesting. This physicisn develops stockyards....she says animals know when they are going to be exterminated that they feel 'fear' and she designs the wait lines in such a fasion that helps to eliminate the fear the animal goes through. remember it? it was several years ago, and quite dramatic....probably had alot to do with me becoming a vegetarian....


karen (CCRN)

karen CCRN

east village idiot said...

Can this gene mutation be diagnosed in couples before they have children?

p.s. I appreciate sarebear's post.

Grumpy Old Man said...

That's a very high frequency for a non-adaptive gene, or group of genes. I suspect an adaptive polymorphism (where the bearer of one gene has an advantage, and the bearer of two a disadvantage).

Either that or an infectious agent contributing in some way.

Sarebear said...

people can have just sensory integration dysfunction, or have it in conjunction with AD(H)D, autism, and I don't know what else.

Have you ever seen a story on the news about a child whose skin is so sensitive that seams in clothing hurt them? They have this.

Different children are different with it, and, I've found, and read, can go from being oversensitive to something, to undersensitive to that same thing. She's got a wide range of over and under sensitivities . . . . when she's upset, I comfort her and let her get over the worst of it, whether it's a scraped knee or what, then I start rocking her from side to side in a wide arc, like a rainbow. Her nervous system is wired to really crave motion because of the sensory integration thing, and this is one thing I do to work with it, that just makes sense that I came up with, and it soon has her giggling again.

I think the vaccinations theory for autism has been debunked, but I can't say for sure on that.

My daughter, though, had signs from day one, of the sensory integration dysfunction, but of course one doesn't know that's more than just a baby's personality. But in hindsight, it's seen. So I know my daughter was from birth.

I did think it developmentally odd that, as a very young toddler she'd line things up, but accepted it as part of her. I know her predilection to do that, I now know that was part of the autism, but I still find my memories endearing; nothing like finding a long line of tomato paste cans lined up on the bathtub rim when you go into the bathroom, to bring a smile to your face; it was a signature that she had been there (I did a post about this sort of thing awhile back).

And that would be Temple Grandin. I believe she also has perfect recall memory, a photographic memory anyway. Which, if you think about it, would be well suited to certain professions. I think that in the future, perhaps high-functioning autistic individuals will actually be able to match up with jobs that are well suited to their different way of thinking . . . I've imagined it so, anyway.

As far as genetic predisposition, what I have read is that, even without this familial link to a possibility/probability, is that people with biplar, such as myself, have a higher likelihood of children with autism, add, and things like that. As well as increased risk of bipolar and other mental illnesses . . .

Crud, it's enough to make me not want to reproduce, lol. But we feel there's one more in store for us . . . guess we'll take our chances, then. I can say it's been worth it with Emily. Then again a mother of a much more challenged child might think I'm being too cavalier about it.

Sorry Deb to sort of be "guest-posting" here. Lol.

Nancy said...

Hi Dr Deb
very interesting topic. My niece (who is adopted) has Asperger's. When she is good she is a normal healthy kid but when she has her "moments" as I call them she is can not controll her feelings or outbursts. This is very furstrating to her parents but then accept her for who she is, a child who sometimes is a dream come true and other times a nightmare.
I watched my niece for the weekend and by Sunday I was ready to go home. I love her with all my heart but boy things can trigger her in a instant.
When "ohn" mentioned in his comment that the person seem normal, he was probably 100% right, he did not see or interview the person when they were 'out of sorts'.
Its a terrible condition and I think the Autistic kids and adults would get more sympathy, understanding or compassion if they were born with a physical defect for the whole world to see. They have a invisable condition and it is tough on the families.

Alison said...

It was only a matter of time before this was specified. It's good news and will lead to positive outcomes.

Ms.L said...

Funny you should mention this,I've just started to suspect that I may be in the spectrum.
I just finished a book about a lady with Autism and we share a lot of the same characteristics.
That sure was surprising!

As a child a teacher called me "disturbed" because I was SO "weird" compared to the other kids. I was mute for most of my early years in public,I thought because I was so shy but when I look back I remember being paralized by something and being unable to speak.
I wanted too,but couldn't.
It was like I was blocked somehow and it was a source of mush frustration for me.
I remember going into a special class and eventually improved with time.
No one ever said anything to me about what my problem was,not even my mother and I just grew up as I am now. I've always been 'different' perhaps autisim is why.
I'm not too worried about it though but it sure makes life interesting,lol

Thanks for the info,I'm going to go do some of my own research!

Wendy C. said...

Interesting stuff. My husband read me an article yestrday from a website called "slash-dot" that implied that there may also a link between television exposure (in kids under age 3) and autism...there are so many ideas out there...

jumpinginpuddles said...

we have one twin with austism and one with aspergers both mild in form but having three older brother and sisters there was no indication anything would be different with them, im also wondering how many studies of those involved identical twins? And still waiting for the blog about identical twins

Belizegial said...

Dr. Deb,

This is a new subject area for myself and I will definitely be reading up and researching more about autism.

Thanks to Sarebear as well for sharing her personal experience with autistic children.


Anonymous said...

Thanks for an extremely interesting post Deb. I find this research fascinating, especially when it crosses into the realm of bioethics. None of us are perfect. I bet that the more we learn about genetics, the more quirks and "irregularities" we will learn to define. This raises important questions that we will soon need to answer.

Up until now, we have been shaped by nature; call it god or reality or chance. What will we look like in a few hundred years, as we learn to shape ourselves?

Like most things with the world today, the possibilities are filled with both hope and pitfalls. As we discard the broken parts of our genes, will we also find that we have thrown away things we might end up missing?

Will we find that having perfection is not so good as longing for it?

Dr. Deborah Serani said...

Dear ~Deb,
The range for Autism and the other spectrum disorders is very wide, so it can be missed or misdiagnosed. So, the answer to your questions are both "yes".

Dear Ian,
Autsim spectrum does have a wide range. But the interesting thing about these genetic discoveries is that it helps us to understand the reasons why the disorders vary and yet can be so similar. It gives hope for cure and greater treatment. Long ago, parents used to be blamed for Autism. That they weren't warm and loving parents. Can you imagine? As for your interview, Asperger's has a wide range as well. There are many who believe that Bill Gates has Asperger's. So there are individuals who are excellent functioning levels and levels and the other extreme are those whose day to day functioning is very difficult.

Dear Princess,
It was there, and they were called other things. Many children were misdiagnosed!

Dear Ohn,
I hope your regret will dilute over time. There was no way for you to discover things any other way than how they unfolded. SPecturm disorders are very tricky to diagnose. The good thing here is that your son reports feeling wonderful.

Dear Andrew,
I so agree with your thoughts!

Dear Wanda,
PDD is an austims spectrum disroder.

Dear Sarebear,
Your thoughts and feelings add so much to this post. Thank you for bringing them to us.

Dear Suze,
Many more. I think it will help take away the stigma as genetics and biology explain such issues.

Dear Id It Is,
Oooh, I have to go read that.

Dear Jade,
So glad that this post could help enlighten. Thanks for visiting.

Dear Moonrose,
Sensory integration is a separate issue, but it is often a part of autism spectrum. And I don't recall the MD. Her story sounds a bit unbelievable to me.

Dear EVI,
I imagine, in time, yes. Sarebear's thoughts are very moving to me too.

Dear GOM,
Yes, we've talked about this before, and I think your theory is significant.

Dear Sarebear,
Great answers to the sensory integration issue.

Dear Nancy,
I loved that you shared that story with us.

Dear ALison,
I agree. In our profession, I think we will see more and more of technology helping to underscore "disorders".

Dear MS. L.
Read and research. And then teach those who don't know. :)

Dear Wendy,
I gotta read that one too.

Dear JIP,
Interesting. I completely forgot about the twin post. I'll get working on it soon.

Dear Belizegial,
So much information to share through blogging, right?!

Dear Godwhacker,
You raise a very important question. What will be lost is a profound thought, indeed.


sodijety said...

Thanks so much for that posting. I am a mother of an autistic child. He takes a whole lot of therapies, and he's talking some more lately. It's a long process. But I'm glad you are posting this article, to create awarness. In a couple of weeks I'll be taking him to the dentist, and that has me really really worried, since he will have to be restrained and sedated.

kath said...


scary, ugly and too common these days..
I hope this finding helps..
I still say that the vqaccines made a difference..

occurance is dropping now that the murcury is out of ( most) of them..

I work in the thick of things on this subject.. many .. most.. of our students are autistic..

so cruel..

Rose said...

I've seen a lot more focus on this on tv too. Just last night I watched Cold Case (I think that was the show)and I believe the main character had Autism. I think we need to be really educated. I never knew that there are cases where people who have autism can do many level of things.

Dr. Deborah Serani said...

Dear Sodijety,
I think Autism is so prevalent, and there are multidimensional reasons for its increase. The most important thing is that research and education continues!

Dear Kath,
I know from reading your blog that you have A LOT of experience with Autism.

Dear Rose,
Many TV shows are illustrating and teaching Austism spectrum. I think it's a good thing too.