'Gene test' for autism in sight --BBC News

[Demeter]

http://news.bbc.co.uk/1/hi/health/4697057.stm

"Scientists who have discovered a gene linked to autism believe they can use the new knowledge to work out an individual's risk of the condition. The French team from IntegraGen SA hope to have a working risk assessment test on the market by the end of 2006.

The gene sits on chromosome 16 and holds the DNA code for a protein that plays a central role in brain function.

For their study, the French authors looked at 116 families where at least one member had autism. By analysing the DNA from these individuals they found a region on chromosome 16 - PRKCB1 - appeared to be linked with autism.

PRKCB1 is expressed in granule cells in the cerebellum of the brain. Its associated protein is involved in transmitting signals from the granule cells to the Purkinje cells. Both these cells help relay messages in and out of the brain. Researchers have already found a decreased number of both granule and Purkinje cells in the brains of people with autism."

[hallc]

1. Woooo!

Now all you anti-vaccine people can start vaccinating your kids again.

[HuckleB]

3. It is interesting to note just how quiet this thread is by comparison.

[lostnfound]

4. One does not rule out the other; far from it.

The scientists and researchers who explained the mechanism of the mercury-autism link during Dan Burton's committee hearings all recognize that genetics play a role in what happens to the mercury that enters the body.

[HuckleB]

5. Uh huh.

The scientists usually do note it, though those focused on mercury ignore far too much information from what I've seen. And those who have politicized the issue ignore that information almost altogether in their tirades.

[K8-EEE]

8. There Has Been A Decline In Autism Since Phasing Out The Mercury

....based preservative in the vaccines.

Genetics definitely play a part as well.

My autistic daughter was born in 1994, she got the mercury laced shots. My older daughter who is not autistic got single dose shots without that preservative in it.

So yes I watch all these developments very closely.

It really bugs me when people make snarky comments like, oh the parents of autistic kids are such alarmists about this or that. It's the sort of "compassionate conservative" attitude I don't expect to see at DU.

[HuckleB]

10. A decline?

Where? That's not what the studies I've noted show. In fact, in many parts of the world, the opposite has occurred.

[K8-EEE]

17. Yes A Decline

At least in CA(where I live.)

http://www.kansas.com/mld/mercurynews/news/local/states/california/northern_california/12122168.htm

Also go to Robert Kennedy's article at rollingstonemagazine.com, they phased out the stuff here -- sent it abroad to Asia and saw the cases of autism increase.

Also he speaks about the rush to cover it up and the super rush for "tort reform" and other ways to not hold the big Pharma companies responsible.

I am totally open to any and all findings because I think it's a complicated puzzle with more than one piece, but like many parents I saw my daughter change after the vaccinations, and I'm not crazy or an alarmist.

[HuckleB]

19. No, not really a decline.

More of a stabilization, which makes sense, especially considering the source of this data, which, in itself, makes the claim of a decline questionable. The reason it makes sense is that special education access and advocacy has played a big part in the increase in the number of students. In regard to Autism, the changes in diagnostics that led to the mid-90s "increase" in cases is also at the point of stabilization, as most providers are just now on the same page.

In regard to Thimerosal and vaccination however, around the world one can find one area after another where Autism diagnosis continued and continues to go up after the discontinuation of Thimerosal. So it's quite difficult to use this data change (however slight) to say that the change is due to the discontinuation of Thimerosal.

[PA Democrat]

29. Two recent studies do not support your claim that increases

in the rate of autism are due to "changes in diagnostics"

The March 2005 issue of Pediatrics published research by epidemiologists from Johns Hopkins Bloomberg School of Public Health and the University of Minnesota that concluded that the recent rise in autism rates is NOT due solely to better diagnosis:

Some people have attributed the rising rate of autism to "diagnosis shifting," meaning children who in past years might have been classified as having mental retardation or speech/language difficulties are now being diagnosed as having autism.

This study refutes that theory.

"By looking at trends in other classifications, we see that this increase is not seen across the board in all ed classifications," Newschaffer said. "This is not a rising tide lifting all boats."

Increases in autism prevalence were greatest for kids born from 1987 to 1992. And while prevalence continued to increase among kids born after 1992, the increases were not as great.

http://abcnews.go.com/Health/Healthology/story?id=55868...

And another study reached the same conclusion:

M.I.N.D. Institute report confirms autism increase,
generating worldwide attention, calls for action

UC DAVIS M.I.N.D. INSTITUTE • MEDICAL INVESTIGATION OF NEURODEVELOPMENTAL DISORDERS
The unprecedented increase in autism in California is real and cannot be explained away by artificial factors, such as misclassification and criteria changes, according to the results of a large statewide epidemiological study presented to the California Legislature in October.

<snip>
“Speculation about the increase in autism in California has led some to try to explain it away as a statistical issue or with other factors that artificially inflated the numbers,” said UC Davis
pediatric epidemiologist Robert S. Byrd, who authored the legislative report. “Instead, we found that autism is on the rise in the state and we still do not know why. The results of this study are, without a doubt, sobering.”

http://www.ucdmc.ucdavis.edu/mindinstitute/newsroom/newsletter/v3_n1_MIND_News_winter02-03.pdf

[HuckleB]

31. Those studies don't get to the whys, though that's the headline claim...

And I don't see a justification in either piece for dismissing the diagnostic piece, which says a lot, IMHO. The MIND study makes a claim that diagnostic changes don't explain much of the increase but doesn't seem to be able to show why it is making that claim. Further, it doesn't address the matter of psychiatric professionals knowing much more about Autism and other neurodevelopmental disorders at all. I have grave problems with any study that claims there was no change in classification of children previously diagnosed only as mentally retarded now being diagnosed as autistic, as this has been shown repeatedly in other studies. Further, I know no one who worked in the field during that period who didn't note a sea change in this regard. I grant that I need to see the actual study, and that my last point is anecdotal, but it's also all encompassing, which is what leaves me quite cynical about it. Further, an epidemiological study such as this struggles to catch some very real world changes, and that may be why it really concludes, "we don't know why there seems to be a higher rate of diagnosis." OK. But if it's got nothing to do with the widening swath of those included in the diagnostic criteria and increased knowledge in regard to diagnosis, then I guess we can tighten up the diagnostic criteria again and there would be no change in the numbers? Something's not right about some of the statements made in these two pieces.

I am leaving town now for a week, but I am saving this thread to my favorites and will offer more discussion later, if you care to discourse. There are some very interesting uses of statistics here, and, well, I would like to link us to the actual studies rather than from MSM reports and newsletters that can be a bit too self-aggrandizing, IMHO.

[PA Democrat]

18. If I had a choice of a vaccine with thimerosal and one without

when my child received her vaccinations in the early 1990's, I would have chosen a thimerosal-free vaccine if I was told there was even the most remote possibility that the thimerosal could be dangerous. I would have paid extra to eliminate the possibility of a risk. Hey, but some of those folks should feel free to paint me as an anti-vaccine wacko, since they do not realize just how desperately we parents wish we could have prevented our kids from having autism. Silly me, I should have known compassion is out of fashion.

I too have a daughter with autism, and I too am irritated by the callousness of some posters here. There are so many unanswered questions about autism, and yet we parents are apparently not permitted to exhibit the least amount of skepticism. The scientific community comes out with new "evidence" almost weekly either proving or disproving that there has been an increase in the rate of autism. And each side in THAT debate is equally adamant that the research proves out their hypothesis. It is frustrating beyond belief to try to wade through the ego wars of the various researchers to figure out what to believe.

[HuckleB]

20. Callousness and carelessness can be noted on all sides.

Further, it's difficult to see many posts where the skepticism can be described as "the least bit."

As for the epidemiology, its becoming quite clear that any increase in incidence is slight, and while there are researchers who put out poor papers "showing" an epidemic who are trying to save face, the majority of professionals and researchers no longer buy into the argument about an epidemic.

[K8-EEE]

21. Yeah Seriously....

And this guy is some sort of Autism professional or something...it figures. I could write a book, I'm sure you could too.

[lostnfound]

28. deleted

[kestrel91316]

33. If thimerosal plays a role, that will have been such a silly,

avoidable tragedy. IIRC, the thimerosal is in vaccines as a preservative. They only use it in the multi-dose tanks, not in the individual-dose vials. Multi-dose tanks are generally used as a cost-cutting measure.

Who knew??

[kath]

34. Not true - one of the Scandinavian countries took mercury a long time

ago, and their autism cases continued to rise - this was the data from a HUGE, well-conducted case-controlled study. NO link has been shown to mercury in vaccines.

[lostnfound]

35. Denmark, but they had changed the way they were counting it

Some trying to cast doubt on the thimerosol hypothesis have misrepresented Denmark's experience. After Denmark banned thimerosal, they changed the definition of autism: previously they counted ONLY cases where patients who were hospitalized (16% to 25% of the total). They then began registering all autistics—including outpatients—quadrupling the national count.

The intensity with which the thimerosol hypothesis is attacked effectively shuts down consideration of it in polite company.

The thimerosol hypothesis is seen as dangerous in at least 2 ways: (1) it may cause so many parents to stop vaccinating that dangerous childhood diseases would become common and (2) financial impact to vaccine manufacturers of an extremely high liability possibly combined with falling revenues. The first concern is obviously sincere; but the second concern ensures that a whole lot of money is being poured into shutting down discussion of the hypothesis.

The fact that a hypothesis is dangerous doesn't make it false. It hasn't been proven false.

[earth mom]

36. Exactly-the freeperish comments regarding Autism here on DU

are quite surprising and disheartening. You would think that liberal dems here on DU would care enough about the injustices in this country to support this issue and recognize the huge opponent that the parents of autistic children are facing-pharma giants and a corrupt U.S. government-and understand that this isn't some thing that parents are making up or donning a tinfoil hat over! The responses and replies to the Autism threads here on DU are beyond disappointing not to mention makes one pause and wonder at the motivation of the posters who post repeatedly in the same threads in defense of the pharma giants-trolls, freepers, or moles placed by the pharma giants, perhaps? Just despicable IMO.

Parents have WITNESSED A CAUSE AND EFFECT AND HAVE PROOF that their children were poisoned by the pharma giants and that the U.S. government has allowed it to happen! And of course the pharma giants have skewed results of their data to favor them-that is certainly no surprise! :eyes: That there is an underlying gene that has been triggered is something most parents may also suspect, but that does NOT let the pharma giants off the hook. Anyone with half a brain and a lick of common sense can see that the upswing in the numbers of Autistic children is in DIRECT CORRELATION with the increase in vaccinations laced with thimerosol that started in the late 80s. The pharma giants are doing everything and anything to dodge this bullet which given their extreme wealth and powerful government connections has made it very easy for them to do. They won't easily be held accountable, no matter how much evidence the parents provide. Because of course the pharma giants will fund yet another study favorable to them...and another study and another study to continue to prove their LIES! Because these children are disposable after all, aren't they? :puke:

[kestrel91316]

32. My money is on autism being MULTIFACTORIAL ................

that is, you have to have the gene to be susceptible, and then you have to have the exposure to something (environmental toxin/stress? thimerosal?) in order to actually develop the disorder.

[PA Democrat]

9. It appears the research is preliminary and does not rule out a combination

of genetics and environment.

Professor Sir Michael Rutter, an expert in autism at the Institute of Psychiatry, said: "These are interesting and promising findings. We need more studies to confirm them."

He did not think it would necessarily be helpful or practical to use the knowledge to develop a risk assessment test because not all of the people with the genes would necessarily develop severe autism.

Here is more interesting research, implicating a different chromosome, and also support for a combination of genetics and environment:




Autism Gene Located
By Kathy A. Svitil
DISCOVER Vol. 26 No. 08 | August 2005 | Biology & Medicine

A few decades ago, autism was routinely blamed on the “refrigerator mother”—a woman whose inability to bond stunted her child’s emotional growth. Now autism is seen as a complex condition that investigators are inching closer to deciphering.

In a major development, UCLA geneticist Rita Cantor recently pinpointed the location of an autism gene. Cantor and her colleagues analyzed the DNA of two large, unrelated groups of autism patients and their families. In both groups, the disorder was linked to a particular bit of genetic real estate on chromosome 17, called 17q21. The segment contains several genes, one of which raises the risk of autism. It was found only in boys with the disorder, which makes sense, Cantor says. Autism occurs much more frequently in males than in females. “It may be that this gene is expressed only in the brains of boys or that girls have protective factors,” Cantor says. Pinning down the actual gene could take another one to four years. Although other autism genes almost certainly exist, Cantor says, the discovery is a “crucial first step” toward figuring out the cause of autism and developing treatments.

Meanwhile, acting on a hunch that a faulty immune system may play a part in triggering autism, immunologist Judy Van de Water of the University of California at Davis investigated how the blood cells of autistic children react to foreign compounds like tetanus toxin and lipid molecules on the surface of Escherichia coli bacteria. She discovered that the protective cells of autistic youngsters mount a less vigorous defense against bacterial compounds than do those of normal children. The research adds fuel to the theory that environmental factors contribute to autism. “The immune system plays a huge role in neurodevelopment, so a defect there could affect the neurodevelopment of the child,” says Van de Water. Her work could lead to screening tests that identify—and perhaps protect—at-risk babies. “We may not catch everyone,” she says, “but if we could whittle down the number of affected kids, that would be great.”

http://app.e2ma.net/app/view:CampaignPublic/id:327.110276888

[HuckleB]

11. Yeah, that's been the basic hypothesis for my entire adult life.

Most of which has been spent working with children with Autism and other neurodevelopmental disorders.

[Donkeyboy75]

6. Unfortunately,

people do not easily part with judgements based on flawed science.

[HuckleB]

2. Another step in a long learning process.

Glad to hear it.

[Demeter]

7. kick

[Not_Giving_Up]

12. Here's my question

There is an autism spectrum that contains things like ADHD and Asperger's Syndrome in addition to what most people percieve autism to be (like Rain Man). So, is this gene for the spectrum, or for a specific type of autism?

[HuckleB]

15. Umm.

Some kids who live with PDD spectrum disorders also have ADHD, but ADHD is not on the PDD spectrum.

[K8-EEE]

22. Um! Some People Think It Is

My Dr. for one things it is a mild autistic spectrum thing.

UM!

[HuckleB]

25. Your doctor can think whatever he or she wants to think.

It doesn't mean the evidence supports the thought. In fact, if anything, such a theory flies in the face of the current body of evidence even more than it had in the past. In regard to pharmacology, the psychiatrists and psychiatric nurse practitioners who are proving to have the most "luck" finding beneficial medications typically shy away from and pull PDD kids off of the usual ADHD medications, and the results, for the vast majority, are beneficial.

[K-W]

13. Great news.

Thank god for science. At least there is still some progress going on in our society.

[maddezmom]

14. thanks for posting this

:) Bookmarked for future reference

[Demeter]

23. My Pleasure

Hope this helps us all find a way out of a bind.

I wonder if all our medical advances are going to come from other lands, now that facts and reality and science are so passe in this country.

[Yavin4]

16. Aren't The Anti-Women, Anti-Choice, Anti-Children People Upset

about this? This will lead to more abortions if parents can find out if their child will be autistic. No?

[KamaAina]

24. Not necessarily with this kind of genetic test

rather, it would tend to lead people who test positive not to get pregnant (or get their partner pregnant) in the first place.

The underlying principle is still there, though: do whatever you have to do in order not to have a child that will be like me. :scared:

[Spider Jerusalem]

27. Or me...

three cheers for eugenics, eh?

[Spider Jerusalem]

26. Well...

a genetic test for autism conducted in utero won't be able to determine the severity; an autistic child could be uncommunicative, or could be the next Einstein (who was most likely autistic; he didn't speak until he was five years old).

[lildreamer316]

30. Shades of Gattica. n/t