At IACC Geneticist Reacts to News Autism Is 50% Environmental
Dr. Insel begins each IACC meeting with a synopsis of the latest autism research. Insel is always right on top of the latest gene, brain, genome and brain imaging research. You know, the greatest hits of team old school autism research. Unless environmental research = old parents or depressed Moms these guys aren’t interested. Scores of innovative biomedical and environmental research studies have been published over the past year but Dr. Insel discusses almost none of it.
Until recently old school autism researchers managed to nurture an urban myth that autism is 90% genetically determined. A brand new and well-designed research study found that genetics actually play a much smaller role shattering the old genetic/psychiatric paradigm.
This Hallmeyer/Stanford/Autism Speaks study found that over 50% of autism can be attributed to environmental factors. This is game changing research. This study was conducted by geneticists who did not expect nor do they benefit from this outcome. The Stanford study was not bought and paid for CDC/ Thorsen/Danish epi junk research, but actual independent research with no pre-determined conclusions. Actual good work!
Remember back a few years ago when the government dismissed concerns regarding hormone replacement meds triggering breast cancer? The pharmaceutical companies and the FDA believed this was a crazy hypothesis; breast cancer is genetic. Well…solidly independent research proved otherwise, hugely otherwise. Most women immediately stopped taking hormone replacement therapy meds and newly menopausal women never started. Just one year later there was a 50% drop in breast cancer. 50%! So much for the environment playing a small role in breast cancer.
OK back to IACC. This Stanford study is the biggest news in autism research in years but what does Dr. Insel begin his discussion with? You got it! Brain and genes sequencing and the genome. Finally the Stanford study was mentioned- for like 1 minute. And guess who was IACC’s first guest lecturer of the day? Yes, of course, a geneticist, Yale’s Dr. Matthew State.
Nevertheless I found State’s presentation intriguing. He thanked the autism community for their patience with genetic research and acknowledged that progress has not come as quickly as he would have liked but promised that is changing. State urged everyone to be optimistic and explained his excitement regarding recent genetic findings. State repeatedly noted the great progress in genetic technology, described as light years ahead of where it was just 5 years ago.
State was polite and personable but definitely played defense. Major defense. The thrust of his discussion was that genetic research into autism was and is the most important, most promising area of study. State cited genetic research into Alzheimer’s as an example of great progress. OK, at this point I’m scared. Alzheimer’s disease was discovered ONE HUNDRED years ago. Yes, 1-0-0 years ago. Today despite, oh I don’t know, maybe a billion dollars in genetic research we still know nothing about how to prevent Alzheimer’s or how to treat it. If that’s successful genetic research- no thanks. Recently there has been a move to focus more on possible environmental triggers behind Alzheimer’s. The public is running out of patience. In short order guess what environmental researchers have discovered? There is a direct link between aluminum exposure and Alzheimer’s. So familiar!
Then the weird, what I like to call “shoehorn science,” arguments began. All of a sudden everything is “complementary.” State hypothesized that most genetic research is really both genetic and environmental anyway. Right. OK, pal try selling that all day long, no one’s going to buy it.
State insisted that genetic research is so important because it helps clarify the role of the environment. Hey, I have a neat idea; in order to study the environment let’s study the environment! Naturally I kid, we absolutely do need to study genetic vulnerabilities/genetic predispositions. But our families do not have the patience for a revisionist fantasyland. The sad fact is that the vast, vast majority of autism research funds have been spent on hardcore genetic research and we have made little progress. We have to deal in reality.
Then State launched into how genetic research will help establish the brave new world of “personalized medicine.” I love this one. We cannot even teach pediatric GIs how to properly scope autistic kids. We cannot get major organizations or the NIH to fund research into the basic biomedical interventions families use everyday. Treatment research into autoimmune dysfunction, IVIG and glutathione drips, vaccine induced regression/encephalitis, the use of anti-inflammatories for gut disease -- virtually non-existent. Hundreds of thousands of ASD Moms and Dads aren’t waiting around for the dawn of “personalized medicine.” We already do this everyday. Personalized medicine? 99% of parents would settle for a pediatrician who actually knew something about ASD and biomedical treatment interventions.
My son has never been asked to be in any kind of biomedical clinical trial that could address his medical issues -- because there are none!
Finally State politely dropped the hammer on the Stanford study. He showed the committee a number of ancient studies asserting that ASD is 73-93% genetic in nature. Retrenchment time! You knew it was coming. State assiduously downplayed the significance of the Stanford study, citing a long list of perceived flaws, and I emphasize, “perceived.” In conclusion State emphatically stated that the Stanford study is “is NOT a game changer.” Sorry, wishing it doesn’t make it so.
Denial: refusal to face unpleasant facts.
Defensiveness: serving to protect, quick to justify.
OK, so then I got curious and watched some of Dr. State’s lectures on You Tube. So depressing. What is it with these guys? Do they only converse with other academics? Are they hermetically sealed off from all environmental science?
In a lengthy video State is addressing a group of students. If he says it once he says it 10x, autism is 90% heritable, the most heritable of all “psychiatric disorders.” Then on to the lame hypothesis that the Dads of ASD kids might have a “degree of social awkwardness” and maybe “Mom had a speech delay.” Seriously, how many ASD Moms do you know with speech delays? State basically hypothesizes that the socially awkward guy and the speech delayed woman produce, essentially, a disabled form of themselves = autism. Romantic right? I think Lifetime is making an original movie about such a couple.
Then State segues into the fact there are different forms of autism, which is surprising because he is only researching and describing 1 kind, the ultra genetic version. Imagine it’s 1985 and lecturing on populations vulnerable to HIV transmission but speaking only about hemophiliacs. Sure hemophiliacs are high-risk group but what about the other 90% of those w/ HIV, how did they get infected? They have a pretty different trajectory, right?
In State’s autism lecture there is zero mention of regression, zero mention of environmental science (so much for all that “complementary” talk), zero mention of the biological/medical problem associated with autism, zero mention of any kind of ASD trajectory but the most rigidly genetic.
You know what else there is zero mention of? Who is funding much of this research and why, what life is like for most people with autism, how many kids are living with serious and untreated medical problems or how severely disabling and heartbreaking autism can be. State conveys no sense of urgency at all. He seems like a nice guy but he just doesn’t get it.
Take out the discussion about the exciting (to him) super, fast, new high tech genetic sequencing machines and this autism lecture could have taken place 25 years ago.
******
Thanks again to the authors of the Stanford study. It is indeed game changing, solid innovative research that should immediately inform the future direction of this field.
Katie Wright is Contributing Editor for Age of Autism.
To Cherry,flu vaccines still contain mercury.This is mixed with polysorbates which is a detergent emulsifier that has
the ability to move through the blood brain barrier. Also
I found someone who had elevated mercury levels after a
Gardasil vaccination. I wonder how many millions of unused
vaccines sitting in the fridges at clinics and still being used? Also are the pharmaceutical companies honest and transparent about the ingredients in their vaccines???
These are the questions we need to find answers for.
Posted by: oneVoice | August 10, 2011 at 11:06 PM
"My son has never been asked to be in any kind of biomedical clinical trial that could address his medical issues -- because there are none!"
Exactly! I will further add that my son has been asked to take part in over 20 studies (we live in a college town/med center) and not one of them involved anything relevant. Sedated MRI, fill out some paperwork, drug trials, SEED study, etc. We used to do ALL of them, and now I just removed him from the research registry and I gave them an earful which I'm sure fell on deaf ears. These people DO NOT CARE about children with autism. They care about their "niche". Thousands of parents are doing biomedical treatments from MB12 to chelation to diet to hyperbarics to enzymes, probiotics, etc. Wouldn't it be interesting to anyone to do a spect scan on a kid before hyperbaric and then after??!!
Posted by: Kristine | August 10, 2011 at 01:09 AM
@Carol re: Upregulated immune response
I came across this in my research; it describes how a virus (in this case Epstein Barr) can transactivate the HERVK endogenous retrovirus we all carry in our genetic code, which then acts as a "superantigen" that in turn enhances the first virus's ability to cause disease. Could this type of cycle be at play in autism too, and how might the retroviral contaminants and human HERVK found in vaccines impact it?
Epstein-Barr Virus book edited by Erle S. Robertson
Chapter 14 by Natalie Sutkowski & Brigitte Huber, [email protected]
“EBV Induces an Endogenous Superantigen: Implications for Pathogenesis”
Abstract
Superantigens are microbial proteins that strongly stimulate T cells. A human endogenous superantigen is expressed after Epstein Barr Virus (EBV) infection. The superantigen gene is located on chromosome 1, and is encoded by the envelope gene (env) of human endogenous retrovirus HERV-K18. The EBV latent membrane proteins are sufficient for transactivation of HERV-K18 env. In this chapter, we review the literature on viral superantigens, and summarize the evidence leading to the discovery of the EBV associated superantigen. In light of these findings, we discuss a possible role for the superantigen associated T cell activation in EBV biology, and postulate how this strong immune activation might at times enhance EBV’s ability to cause disease.
Posted by: Garbo | August 09, 2011 at 08:50 PM
To Marie Anne Denayer MD- I see many kids like this in my nursery school in Delhi, and if they do not have very severe, prominent signs of autism, they can improve within a year or two to where no one but a close relative can see anything out of the ordinary about the child(without therapy of any kind)The way to do this is to stop vaccines and stop any fish; of course look for any other sources of mercury and stop them too. Naturally one gives the child vitamins and any other supplements that might be appropriate, and take the child in the sun for half an hour daily if possible. But most important are the first two points. If the child does not speak, there is still a chance that his speech may appear at age three and a half to four and develope quickly once it starts.
Where on earth is this child getting the mercury? Did they give flu vaccines? Did the mom eat a lot of fish or have dental work done or take flu vaccines during pregnancy? Are other vaccines still containing small quantities of mercury? Im still not clear on that point- can anyone weight in here?
Posted by: Cherry Sperlin Misra | August 09, 2011 at 01:43 PM
What I found particularly interesting about the Voineagu study is that it suggests an environmental cause for the inflammatory response in the autistic brain. While the genetic aspects of the study are heavily flogged on the usual websites, this finding is generally ignored.
"The researchers also found evidence that genes responsible for synaptic function and communication were downregulated in the autistic brains, whereas genes involved in immune function and inflammatory response were upregulated.
'The increased expression of genes associated with immune response hasn't been identified by previous genetic studies,' Dr. Gregory commented. 'This would imply, as the study authors suggest, that there is some environmental component that is causing the elevated gene expression of the immune response genes or potentially there is an epigenetic component.'"
http://www.medscape.com/viewarticle/743649
Posted by: Carol | August 09, 2011 at 12:30 PM
We did all the gene arrays we could to rule in or out a genetic basis for autism in my son and daughter. They came up with a hypothesis that my son had something on chromosome four, something to do with a gene close to epilepsy and synapse genes. So, to rule it in, we also took the gene test. My husband had the gene too. He doesn't have autism, he doesn't have seizures and is quite intelligent. Here's the gist. I think those synapse genes are there because someone with high IQ would have more dendrites and synapses because more connections mean higher IQ. And with higher IQ comes the vulnerability for damage. The only worthwhile gene test we took was a research study on immune genes in autism, namely, the C4B annulle, which is a complement protein that is needed to work out viruses and bacteria. IF not present, you have a vulnerability factor. My son had zero complement C4B. This explains the vulnerable factors of having something "unearthly" and "unnatural" in the bloodstream that could not be overcomed. If they are going to look for genes, look for immune system regulation genes. That could be the key factor in detecting which child can or cannot have vaccines.
Posted by: kathy blanco | August 09, 2011 at 11:22 AM
Transcriptomic analysis of autistic brain reveals convergent molecular pathology
"We further identify discrete modules of co-expressed genes associated with autism: a neuronal module enriched for known autism susceptibility genes, including the neuronal specific splicing factor A2BP1 (also known as FOX1), and a module enriched for immune genes and glial markers....Moreover, using a published autism genome-wide association study (GWAS) data set, we show that the neuronal module is enriched for genetically associated variants, providing independent support for the causal involvement of these genes in autism. In contrast, the immune-glial module showed no enrichment for autism GWAS signals, indicating a non-genetic aetiology for this process."
http://www.nature.com/nature/journal/v474/n7351/full/nature10110.html
I think "non-genetic" translates to "environmental."
Posted by: Carol | August 09, 2011 at 10:15 AM
I'm sure you saw yesterday's NYT article -
‘Environment’ Poses a Knotty Challenge in Autism
By PERRI KLASS, M.D.
Published: August 8, 2011
http://www.nytimes.com/2011/08/09/health/views/09klass.html?ref=health
Which is a joke-journalism in itself:
From article:
"The study sought to determine how likely the second twin was to have some form of autism. If autism was highly heritable, identical twins should have been far more likely to both have autism than fraternal twins. But the researchers found that fraternal twins were unexpectedly likely to both have autism.
The implication is that something in their common gestational or early childhood experience may have contributed to this similarity.
“The data definitely did surprise me,” said Dr. Joachim Hallmayer, the lead author of the study and an associate professor of psychiatry and behavioral sciences at Stanford University. “I expected the fraternal twin rates to be lower than what we found.”"
Talk about a WHITEWASH of the real numbers (simply not sharing them) and more importantly, ignoring the equally telling - IDENTICAL rate.
I tell friends and acquaintances the identical rates, then the fraternal rates, and their eyes pop out of their heads. Everything I've been telling them all these years are explained in those numbers.
"Concordance for ASD was 77 percent among identical male pairs, and 31 percent among fraternal male pairs. In females, concordance for ASD was more closely spaced — 50% for identical and 36% for fraternal pairs. By contrast, previous studies had found concordance rates for fraternal twins that were much lower, ranging only in the single digits."
This actual numbers are quoted from this link: http://www.nimh.nih.gov/science-news/2011/balance-tips-toward-environment-as-heritability-ebbs-in-autism.shtml
No one, industry, commerce, government and certainly not the lay-your-government-hands-off-of-any-regulation-types, let alone the medical industry. No one wants the environment to be real. So, simply don't report it and it'll go away.
Posted by: KHW | August 09, 2011 at 09:44 AM
It is interesting how psych people, since autism was first described barely 60 years ago, have come up with contradictory theories as to the cause of this NEW disorder.
First, the parents - and particularly the Moms - were highly educated, focusing on their careers, hence the "refrigerator" label. Now, Mom is speech-delayed and Dad is antisocial.
As to the "genetic disorder" theory...There isn't a single genetic disorder that could possibly affect 1 in 10,000 kids when first recognized (Where was the offending gene hiding prior to Dr Kanner's first description of the disorder?)and within 60-70 years, owing to an exponential rate of increase in incidence, manifest itself in 1 in 100 kids?
Autism is a man-made disaster of epidemic proportions, set into motion by an ever growing number of vaccines and their "inactive" ingredients(with or without other risk factors, such as Lyme disease in my daughter's case), that adversely affect a subset of children.
The research has to focus on identifying the genetic make-up of those kids at risk of becoming autistic in response to vaccination-induced immunologically-mediated encephalitis. It has been my mantra for 20+ years, yet none of my colleagues are willing to listen.
My daughter now 24, became autistic during the second half of her second year. I come from a large family as does my husband, and nobody on either side of the family ever had a disorder that fit the autism definition.
What I feared most given the statistics of the disorder, was to witness the emergence of another case of autism in the family. Well it has happened. The son of my husband's brother has a 2 year-old boy who I found to be normal at Christmas. Although he has not gone through the severe regression my daughter experienced, he has stopped making progress in the areas of speech, currently non-existent, and social interactions. "Birth to Three" is involved and a neurological work-up is in the works. Mom is devasted and Dad in denial. Been there, done that.
Posted by: Marie-Anne Denayer, M.D. | August 09, 2011 at 09:15 AM
Katie, thanks for summarizing Dr. State's presentation. I was away and unable to watch the meeting online. Did Dr. State make any mention of the brain? Did he discuss the increasing prevalence of autism?
The focus on genetics is clearly false. Factors that can disrupt normal maturation of the brain should be the priority for research, especially systems of the brain that prevent normal language development.
Refusal of the IACC to discuss the ideas proposed by parents is an outrage. Their first priority should have been to demand a change in the child vaccination schedule. Then to investigate the safety of ever increasing interventions employed for prenatal monitoring and in childbirth, and in so-called neonatal management of "problems" like bilirubin.
Posted by: Eileen Nicole Simon | August 09, 2011 at 05:32 AM
As always, well said Katie. "Refrigerator Mom" was replaced by a genetic/ behavioral conversation which will be replaced by an environmental causation/ cognitive development conversation. There was a time when I believed the old would bridge into the new. I think it will look more like a replacement of the old with the new. Research funding has to go to the environmental studies.
I like to draw the analogy...
If you take an egg and whack it against the side of a bowl, it breaks. So why do we study the egg shell over and over again to figure out what happened? We should look at the environmental impact on the egg shell. It makes no sense to attribute the broken egg to a shell. It was the external impact that broke the egg.
Let's demand the funding go to environmental impact studies by independent researchers.
I declare that there will be a day when the well being of children on the planet is handled. That we identify the environmental impacts, understand the causation and assist the treatment to restore the conditions for good health for our children. And that includes all chronic diseases, not just Autism. Its a big conversation.
Posted by: MotherOfPossibility | August 09, 2011 at 01:32 AM
Donna L. That last one would be funny if it was not so true of how the (my) PDD-NOS 25year old really feels.
He came home today from the community college with no classes and said he was not going again this semester.
Here we go hold on tight - but wait social security said he was capable of working
and
Tom Insel told me:
My kid would be an engineer.
Posted by: Benedetta | August 08, 2011 at 09:48 PM
Ha! Can't top that one, Kim!
Although I do like their one about Risks:
"If you never try anything new, you'll miss out on many of life's great disappointments."
Posted by: Donna L. | August 08, 2011 at 07:05 PM
Donna, LOVE the demotivators! Made my brother a calendar one year with their artwork. "Dad's Birthday, if he's still alive." was one date. Ha ha!
Posted by: Kim Stagliano | August 08, 2011 at 06:43 PM
Katie...thank you for your voice. I must have ASD since I perseverate on the inadequacy of the research into what can actually HELP these kids. Wondering what would be the most appropriate socially awkward way to let them know how I feel about it. Hmmmm...so many choices! I have a PANDAS-only cub, and most of my information has come from parent online networking and articles written by the few researchers really tackling PANDAS. But for so much effort being spent on ASD and to see so few results, it is quite ridiculous. Bravo for calling them out on this time and again. BRAVO!
Posted by: Sarah Jane Alleman | August 08, 2011 at 06:17 PM
Brings to mind that Demotivators poster:
"If you're not a part of the solution, there's good money to be made in prolonging the problem."
What a tragic and pathetic waste of resources.
Posted by: Donna L. | August 08, 2011 at 06:15 PM
Hmm, what could my genetic predisposition be, that I managed to pass on to my kid and predispose him to autism??? What could it be?
Oh, yeah, I remember now--I have a documented allergy to thimerosal (back when it was in contact lens solutions and eye drops--and it is STILL in eyedrops, last I checked), AND I had documented severe adverse reactions to vaccines.
BINGO.
Sounds like Dr. Matthew State is still insisting that the buck-naked Emperor is wearing lovely clothes.
Posted by: Taximom | August 08, 2011 at 06:07 PM
Just like hormone replacement therapy. It might be up to us to show the way. Maybe when vaccination drops to 50%, then autism will drop 50%. It's worth a try anyway.
Posted by: Cynthia Cournoyer | August 08, 2011 at 05:48 PM
We have this disorder striking hundreds of thousands of children. Doctors don't know why it's happening. They make the lame claim that kids are born with autism. They offer no hope to parents. Autism happens--go home and live with it. And I think for some researchers, autism has been a gold mine
Meanwhile, parents want to know what went wrong--especially if their child was developing normally and suddenly regressed. Pregnant women have a lot of reasons to be worried, especially if they're going to have a boy. A one in 68 chance is nothing to sneeze at. With those statistics, every OBGYN doctor should have to warn parents about their chances.
We're getting so used to having sick and disabled kids. ADD, ASD, PDD-NOS, allergies, asthma, seizures are just part of being a kid these days. Doctors don't have to worry about giving parents a reason their child isn't healthy. And blaming genetics is all just part of the mystery. I filled out forms for my son to go to Boy Scout Camp this summer and the medical info needed was incredible. It wasn't, does your son have a health problem, but more like, what problem does your son have--and what medication does he take.
Officials pretend to care about autism. I call it "autism busy-work." What I especially love are the angry scientists who have the attitude--
How dare parents demand answers. This is very complicated science. It may take years to hunt down the mutating genes or find the environmental culprits among the 80,000 untested toxins our kids are exposed to.
A once rare disorder is now overwhelming our children and we don't dare question where it's coming from? I think it's time someone asked Thomas Insel for an estimation of when he might know something for sure about autism. ANYTHING. We're getting a little tired of the stale lines, "Studies show no link," "No known cause," "No known cure," "No way to prevent your next child from being on the spectrum too."
Posted by: Anne McElroy Dachel | August 08, 2011 at 05:05 PM
I <3 you Katie. Yes, my parents kinda suck too ;-)
Benedette: Genetics are why some folks smoke for 30 years and get lung cancer, but others can smoke Lucky's with no filter until they're 95 and never get it. It's perfectly reasonable to assume genetic susceptibility. Although lately I'm starting to believe that with autism it's more like timing. This is why sick kids are more prone to vaccine injury.
Posted by: AL | August 08, 2011 at 03:32 PM
Idiocracy at its finest. If they keep pounding square vaccine-damaged pegs with their magic genetic hammer, maybe eventually they will fit into round genetic holes.
Posted by: Garbo | August 08, 2011 at 03:27 PM
KDM, haven't you heard that the internet enabled all those socially awkward guys and gals to meet online and to procreate? It is all because of the internet!
As a scientist myself, I don't like generalizations. There are a lot of scientists who are terrified at what is going on but the money is controlled by those who don't want to rock the boat on vaccines. And if you don't have money, you are out of the game.
Posted by: Cassandra | August 08, 2011 at 02:12 PM
I will admit there is a lot of odd things going on in my family and have gone on.
I will admit there are a lot of odd things that have gone in in my husband's family.
But I was an early talker, very early, and my husband was a very social animal, stud muffin, jock, involved and very good at every sport - muscle man.
What is new in my family is Kawasakis, psychoisis, mannias, deep depression, muscle wasting, chronic pain esp in the lower legs, stomach problems from beginning of the mouth to the other end, and seizures, lab test with low L carnitine, high SED rates, high cholesterol, anemia, high liver enzymes. Oh and I suppose the set of twins in our family being so very low functioning - that is saddly new in the family history too. And passing out, gasping for air, with pupils all dilated from a DPT shot is also pretty new.
So at best we are a subset of people that are genetically inclined to react to an environmental trigger and become sick????
I have never understood that.
It is genetic, but it requires an environmental trigger?
Genetics load the gun, but the environment pulls the trigger?
It it the genes but it takes something to make you sick?
I don't care how you say it, it is silly!
It is like saying genetically prone to rat poison.
That is right some people can take more of it than others and live a little bit longer.
So a small subset of people actually die sooner of a smaller amount of rat poison than the rest of the general population?
Is that what they mean?
Posted by: Benedetta | August 08, 2011 at 01:15 PM
Ben's Mom
You are right! As long as the kid can function and is only slightly impaired - parents will think back on another family member - Oh, so and so was hyperactive, and that drunken uncle - had some sort of milder bipolar - and so they found that brillant, wonderful cousin in a snowstorm totally gone - with a sudden onset of schziophrena!!! It is just in the family somehow.
Posted by: Benedetta | August 08, 2011 at 01:02 PM
Of course Dr. Manny of Fox Health has it all figured out, he mocks the 7-9 vaccines per day antedotal stories of parents
http://www.foxnews.com/health/2011/06/09/dr-manny-says-autism-breakthrough-is-realfor-now/
but supports this genetic pharma breakthrough....
....Their findings confirmed a growing body of evidence that autism can be caused by a random genetic mutation that could occur at any one of hundreds of different sites in the human genome.
change any gene anywhere.... and it results in the same damn thing..... Autism
Posted by: cmo | August 08, 2011 at 12:57 PM
If socially awkward guys and speech delayed gals are responsible, how did we get an epidemic of them meeting and having children in the past 2 decades?
I've never know any autism mothers who EVER delay speech or what they think.
I thought socially awkward guys stayed single and went on to be academic boobie researchers blogging in their spare time.
Posted by: KDM | August 08, 2011 at 12:49 PM
Scientists invest a religious-like fervor in their paradigms (especially if those paradigms fill their pocketbooks). Eventually, these silly deniers will die and science will progress "by one funeral after another" (to paraphrase a scientist philosopher). Too bad for the children, 'though.
Posted by: Theodore Van Oosbree | August 08, 2011 at 12:39 PM
Does Dr. State not do real research on how chromosome damage can occur?
"Cerebellar dysplasia (an abnormal number of cerebellar neurons) may or may not produce symptoms, depending on its extent. When it does, patients usually exhibit abnormal coordination of movement and speech. Cerebellar dysplasia is associated with elevated exposure to mercury; chromosomal anomalies, including trisomy 13, 18, or 21; or chromosomal deletions." http://tinyurl.com/2ahmrdn
Trisomy 21 is Down's Syndrome.
Trisomy 13 is Patau Syndrome.
Trisomy 18 is Edward's Syndrome.
Add in "anomalies" and "deletions" and I wonder what else is NOT being looked at by gene research?
Posted by: Teresa Conrick | August 08, 2011 at 12:32 PM
Who ARE these "ultra genetic" ASD kids? What definition does State use to select his subjects? Hopefully NOT the most significantly impacted kids. In my experience kidddos like mine, who have had a very hard hit of toxins and environmental assaults, tend not to have as many identifiable relatives with ASD or ASD type phenotypes.
I do know many parents of kids with AS or HFA ( having had no biomed interventions- just naturally "high functioning") who are convinced their child's spectrum diagnosis is familial or genetic.
Just my observation...the more severe the effects ( minus known chromosomal differences) the more likely to have been environmentally assaulted.
So who was State studying anyway?
Posted by: Bens Mom | August 08, 2011 at 12:11 PM
It is entirely predictable. Get ready for more attack on the Stanford study. They will attack the statistical methods, the patient selection criteria, etc. They will try to make it irrelevant.
The geneticists are not going to let their gravy train go.
The other thing that will happen is that grudgingly they will start to fund more environmental research but into prenatal exposures. Expect to see more studies into maternal age and prescription drug use. It is time to beat up on the mothers again. Never mind vaccines, they are hundred percent safe, the CDC says so!
Posted by: Cassandra | August 08, 2011 at 11:15 AM
Thank you, Katie, for another update.
I'm personally not sure the apparent inheritable risks for autism are genetic at all and that it may be rather dangerous to not consider possible inheritable environmental insults, but since these people are so determined to succeed through genetic research maybe they should act on the study below and check for common gene variants in pink disease survivors. Has any other familial factor been found that may indicate as much as a 7 times increased risk for autism?
Ancestry of pink disease (infantile acrodynia) identified as a risk factor for autism spectrum disorders.
Shandley K, Austin DW.
http://www.ncbi.nlm.nih.gov/pubmed/21797771
I also wonder if the above study will even be mentioned, even in passing, by the IACC?
Posted by: Jeannette Bishop | August 08, 2011 at 11:13 AM
Still, the study exists, and gives the autism community another tool to fight the uphill battle against the pharmaceuticals.
------------------------------------------------------------
I know this is crazy, but does anyone know of an autism site that solicits non-vaccinated families to determine their autism / allergy rates?
Posted by: John Dobbs | August 08, 2011 at 09:35 AM
Oy vey. Take a deep breath. Thanks, Katie
Posted by: Maurine Meleck | August 08, 2011 at 09:32 AM
A very sad "State" of affairs.
Thanks Katie for the IACC update and takedown.
A glimmer of good news - Autism Speaks contributed to a meaningful study. Let's hope for more of the same.
Posted by: pass the popcorn | August 08, 2011 at 09:24 AM
State, and Insel just basically told us they don't have a clue, actually they seemed confused. It's not a wonder that they made no progress, and if we were to depend on them for all autism research, then the results would always be the same, nothing. How sad is this?
Posted by: victor pavlovic | August 08, 2011 at 09:12 AM
Very Dangerous that State is teaching to students that Autism is 90% heritable. Is he teaching this to medical Students, or tomrrow's Psychiatric students? We have gone amuck in the education of MD's. First, some thirty years ago I have read that MD students were taught that vaccines provided lifelong immunity, so they accepted them. Then around 20 years ago they were taught the vaccines needed boosters- and lasted 10 years and that group of students accepted them. Today we know that many vaccines provide less than 5 years immunity, but today's MD students accept all vaccines for the most part, all 70 of them. They do not know any better. There are no elder MD students to speak up.A man like State has the capacity to inflict personal unproven beliefs. Who regulates this? By results alone there is little to no regulation. The result is clear... 1 out of every 10 children now has a "Developmental Disability." This is the kind of ineptitude that is dangerous.
Posted by: Shell | August 08, 2011 at 09:02 AM
Katie, you are right. Since the Stanford/Hallmeyer study the game is changing, and the IACC is beginning to get it. Tom Insel is not Darth Vader, in my view; he’s a bright, competent, an old-guard geneticist caught at the crux. Perhaps it's time for a passing of the torch, a changing of the guard, and a revision of the Combating Autism Reauthorization Act (CARA). See http://www.ageofautism.com/2010/10/announcing-the-combating-autism-act-reauthorization-coalition.html and the main coalition page: http://caacoalition.org/
We have friends on the IACC committee and we can expand our presence there.
Posted by: Dan E. Burns - SavingBenBook.com | August 08, 2011 at 08:41 AM
Zzzzzzzzzzzzzzzzz...This Politburo is a complete waste of tax payer dollars. We all knew it was going to be like this from the very day we discovered there were two versions of the Combating Autistics Act, one for real and the fake one to drum up support by fraudlant method.
Those who supported all this should be the last ones to ever have any complaint about this.
Nag. Nag. Nag. Rant. Rant. Rant.
And guess what? Can we all scream MOAR?!?!?!?
http://thomas.loc.gov/cgi-bin/query/z?c112:H.R.2005:
`(a) Developmental Disabilities Surveillance and Research Program- To carry out section 399AA, there is authorized to be appropriated $22,000,000 for each of fiscal years 2012 through 2014.
`(b) Autism Education, Early Detection, and Intervention- To carry out section 399BB, there is authorized to be appropriated $48,000,000 for each of fiscal years 2011 through 2014.
`(c) Interagency Autism Coordinating Committee; Certain Other Programs- To carry out sections 399CC, 404H, and 409C, there is authorized to be appropriated $161,000,000 for each of fiscal years 2011 through 2014.'.
Oh, and of course, let's see how much money-laundering we can get away with.
http://thomas.loc.gov/cgi-bin/query/z?c112:H.R.2700:
(e) Funding- To carry out this Act, the Administrator shall allocate amounts that have been appropriated or otherwise made available to the United States Agency for International Development.
Posted by: Kerbob | August 08, 2011 at 08:18 AM
Studying genetics to get to the root of autism, is like studying the genetics of victims and survivors of a plane crash, to see why some survived and why others did not. It's not uncommon to hear a plane survivor describe waking up shortly after the impact, only to realize that the passenger seated next to them, who appeared to have been exposed to the same impact trauma... did not.
Is that genetics?? Well yeah, it would certainly appear to be. Will that have any bearing whatsoever on the FAA's investigation of that plane crash? Of course not, the public would be outraged by such stupidity. Will geneticists ever be contracted to create a genetic test, that advises people on whether or not they should fly... based on their genetic predisposition to survive the crash? Not likely.
When it comes to a plane crash, there will never be any doubt as to WHAT caused the death and injury of all those people. And post crash efforts will always focus on doing everything possible to make sure such a tragedy never happens again.
It's a good thing the IACC members don't work for the FAA, because these guys wouldn't be able to find the airport.
Posted by: Barry | August 08, 2011 at 07:34 AM
It's all about keeping their snouts in the feed trough for these people.
Posted by: julie | August 08, 2011 at 07:03 AM