An Open Letter To The Poling’s

12 Apr

Dear Poling family,

Let me first start by saying that your little girl is beautiful. I am father to two girls (as well as one boy, young man now actually) so I know how great it is to have such wonderful little people around.

I read Jon Poling’s commentary in the AJC and I have to say that I was very disappointed by the level of accuracy in the piece. For example, he says:

On Nov. 9, 2007, HHS medical experts conceded through the Department of Justice that Hannah’s autism was triggered by nine childhood vaccinations administered when she was 19 months of age…

Now I have taken a keen interest in your families case since it became clear what the situation was. I _think_ I have read most of the newspaper reports available online as well as (more importantly) the HHS document itself and (even more importantly) the case study co-authored by Andrew Zimmerman and Jon Poling.

Nowhere, I repeat, nowhere, have I seen anyone from either the HHS, CDC, US Government, or even the Zimmerman/Poling case study say that ‘Hannah’s autism was triggered by nine childhood vaccinations’.

I have seen David Kirby refer to this several times. I have heard lots of people refer to these statements as if they are true and now I hear you doing it too.

But where is this concession?

In what legal, scientific or medical document does it state unequivocally that ‘Hannah’s autism was triggered by nine childhood vaccinations’?

You are a family on the cusp of storm. You need to take more care with your statements. People all over the world are listening. The *fact* as of right now is that no one has conceded ‘Hannah’s autism was triggered by nine childhood vaccinations’. Simply stating it as if it were true does not make it true.

The HHS expert documents that led to this concession and accompanying court documents remain sealed, though our family has already permitted release of Hannah’s records to those representing the almost 5, 000 other autistic children awaiting their day in vaccine court.

Now this confuses me on two levels. Firstly, Special Masters have already said that:

….in the case that is the subject of the media reports, if the parties who supplied documents and information in the case provide their written consent, we may then be able to appropriately disclose documents in the case.

It sounds to me like Dr Poling is trying to turn something around onto the HHS without justification. Maybe your legal team haven’t told you about this news. I understand they’re very busy of late.

The second part of Dr Poling’s statement that confuses me is the allusion to the records being released ‘to those representing the almost 5, 000 other autistic children’.

I thought that you wanted your documents to be made entirely public? Are you now saying you only want the legal teams of the other omnibus lawyers to have access to them?

I would also like to draw your attention to the email I sent to Terry Poling on March 5th asking why the Poling family had not cleared Dr Andrew Zimmerman from speaking publicly about the case. Does the Poling fmaily have any intention of lifting that embargo any time soon?

Dr Poling goes on:

Emerging evidence suggests that mitochondrial dysfunction may not be rare at all among children with autism. In the only population-based study of its kind, Portuguese researchers confirmed that at least 7.2 percent, and perhaps as many as 20 percent, of autistic children exhibit mitochondrial dysfunction. While we do not yet know a precise U.S. rate, 7.2 percent to 20 percent of children does not qualify as “rare.” In fact, mitochondrial dysfunction may be the most common medical condition associated with autism.

This is very disingenuous Dr Poling. I am not sure if you are purposefully distorting the truth or simply not as knowledgeable as you think. In point of fact the figure of 7.2% is from a 2005 study ‘Mitochondrial dysfunction in autism spectrum disorders: a population-based study‘. This is _not_ (as you state) ‘the only population-based study of its kind’. It was in fact a precursor to a _second_ follow up study by the same lead researcher correcting his own data.

This second study (published October 2007) is called ‘Epidemiology of autism spectrum disorder in Portugal: prevalence, clinical characterization, and medical conditions’.

This study declares a 4.1% figure. It is disingenuous in the extreme to refer to old science when newer, more accurate science exists on the subject (and by the same author no less!).

Further, as far as I can tell, the figure of 20% has but one source – a non published summary for attendees of a 2003 LADDERS conference in Boston, USA. Therefore it has not been subject to any kind of peer review. That’s not to say the figure is wrong, merely that it hasn’t been verified or undergone any kind of the usual scientific checks and balances a published piece of work must undertake to ensure quality. This is not ’emerging science’ Dr Poling. Its a set of program notes.

Further, as I understand it from talking to people involved in all three of these different items, the percentages you talk about are expressed percentages _of regressive autism only_ . Now I might have that wrong but I’m pretty sure that’s what was communicated to me.

Taking this into account, when Dr Poling states that:

In fact, mitochondrial dysfunction may be the most common medical condition associated with autism..

and he goes on to suggest population numbers between 10,000 (1%) , 72,000 (7.2%) and 200,000 (20%) of the autistic population he estimates at one million in the US, he is incorrect.

However, if I have understood what is said to me then we need to look at regressive autism numbers only, which are estimated to account for 25%-30% of autistic people. Therefore we are looking at not 7.2% or 20% (one is incorrect, one is not scientifically justified) of one million. We are actually looking at 4.1% (the only scientifically valid number) of between 25 – 30% of one million. Lets take the upper figure of 30%. This gives us a population of 300,000 for regressive autism. Applying the 4.1% estimate we can see that – at best and only if this data is all correct – mitochondrial autism may affect about 13,000 autistic people – 1.3%. If we took the lower range of 25% for regressive autism, we barely get over 1% (10,250).

Secondly, it should be noted that approximately 40% of autism can be accounted for genetically. This already makes it the single largest established cause(s).

Dr Poling goes on to say:

Today there is no doubt that mitochondrial dysfunction represents a distinct autism subpopulation biological marker.

This is true. However, prefacing this sentence with the word ‘today’ gives the highly misleading impression that autism has been associated with mitochondrial disorders and/or dysfunctions only since Hannah Poling came into out collective conciousness. This is far from the case. I can find instances in the scientific literature going back to 1986, over 20 years ago discussing mitochondria and autism and a PubMed search for ‘mitochondrial autism’ yields 34 quality papers published over a 20 year period. This is hardly a new thing Dr Poling.

As a neurologist, I have cared for those afflicted with SSPE (a rare but dreaded neurological complication of measles), paralytic polio and tetanus. If these serious vaccine-preventable diseases again become commonplace, the fault will rest solely on the shoulders of public health leaders and policymakers who have failed to heed the writing on the wall (scribbled by my 9-year old daughter).

I fear that this is projection. You are very close to pushing an anti-vaccine agenda Dr Poling and indeed Terry Poling was active an the Yahoo Group ‘Recovered Kids’ from at least Summer 2001 where she says things like:

Really, the only way to obliterate a disease is to vaccinate everybody – or at least so “they” say

Sept 2001.

Had I told the hospital staff she was autistic they would not have believed me. The same held true for a (sic) educational consultant who came to evaluate hannah the day before the fever started. She said in her report she saw absolutely no autistic behaviors.

Nov 2001.

She has mitochondrial disease which causes her autism.

March 2004.

I do know docs that speak for drug companies but they cover all the meds for a particular disease in their talks with other docs. If they do not agree that the drug is best for certain conditions on the whole they say so.

Feb 2003.

…it [autism] is a DSM set of symptoms. When the symptoms disappear you cannot say the child still has autism…..

Oct 2001.

So Dr Poling when you try to lay the blame for vaccine preventable injuries increasing at the foot of those agencies assigned to try and stop them reappearing I think that is farcical. To me it is clear that the main responsibility lies with those who shun what are by and large safe safe vaccines on the strength of a hypothesis that is nowhere _close_ to scientific truth. I urge you to read this article and the comments left by readers. Its clear who they see as responsible. For example:

Don’t want to vaccinate your kids? Fine with me. Just don’t send them to school where they then put my kids at risk because of your decision.

You are deluding yourself if you think you can turn responsibility for shunning vaccines back on health agencies Dr Poling.

All in all Dr and nurse Poling I think that your public use of misinformation and erroneous science to make your point will serve you no good in the long run. I also continue to be puzzled by your refusal to ‘ungag’ Andrew Zimmerman. I hope you can start to realise that what has ‘happened’ to Hannah is far from remarkable. Best wishes from one autism parent to another.

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54 Responses to “An Open Letter To The Poling’s”

  1. livsparents April 12, 2008 at 14:30 #

    I think just as Dr Poling is inflating the numbers, you are downplaying them. Even if you take the 4.1% as the number, there is reason to beleive that regressive autism may have a larger percentage of ‘mito autism’. I would also submit that the IAN database has parents reporting regressions in the upper 30’s. Back of the envelope would probably put the ‘ground floor’ of mito autism at 1.5%, not as you said less than 1%. Also having a genetic marker for autism does not excuse an environmental insult from causing a regression; if that were the case then cigarette smoking would still be the #1 hobby of the human race.

    I just think that you still don’t have all the information that Dr Poling has regarding the decisions made in the concession. Time will really tell whether he is really bluffing or are the cards he is holding really that strong to implicate regression from multiple vaccines is something to consider for this subgroup…

  2. Joseph April 12, 2008 at 14:57 #

    Like I said before I have my doubts about the 4.1% and all numbers thus far. I’d like to see a proper case-control study, with proper sampling, and preferably some blinding, that gives a pretty good estimate of the odds ratio we’re talking about when comparing autistics to non-autistics.

    I’m sure it’s a cause, but there’s not enough information to say whether it’s a common cause or a marginal cause.

    This will happen in the next few years, no doubt. Poling is the new Wakefield, except Poling’s hypothesis is clearly more plausible.

  3. Athena April 12, 2008 at 16:12 #

    wow……lot of stuff in this letter………you are certainly good at doing research……none of us are that good unfortunately….(us=me or the other two personas)

    Good to have you on the right side of the autism rights fence…..a champion for the truth…..please keep us readers posted on what results from this letter……if anything………

    You know what would/could clearly say whether or not autism is caused by vaccinations……..without a doubt, to satisfy at least SOME of the antivaxxers….those who are on the higher end of the IQ spectrum…….a study of identical twins…..each getting the same vaccines at the same time. If one “turns up” (for lack of a better expression at the moment) autistic, the other does not, then I think we can say there is no link, definitively, because identical twins have the same dna…….same genetic makeup. If one is autistic and the other isn’t, voila, a clear definitive without a doubt refutation of the autism vaccine link.

    Or is that overly simplistic?

    Am I missing something there?

    Athena of athenivanidx

  4. Kev April 12, 2008 at 17:59 #

    _”I think just as Dr Poling is inflating the numbers, you are downplaying them. Even if you take the 4.1% as the number, there is reason to beleive that regressive autism may have a larger percentage of ‘mito autism’.”_

    Hi Bill, long time no see 🙂

    Not quite sure what you mean by the above. 4.1% _is_ the only established percentage. Further, if I understood what my email conversations told me, that figure _is_ the percentage of ‘mito autism’ within regressive autism. One doctor who is very close to the mito/autism community told me that ‘mito autism’ _only_ exists in regressive autism.

    _”I would also submit that the IAN database has parents reporting regressions in the upper 30’s. Back of the envelope would probably put the ‘ground floor’ of mito autism at 1.5%, not as you said less than 1%.”_

    Well, again, that’s not what I said. I never said less than 1%. I said between just over 1% and 1.3%. I’d also caution against the merits of solely parental submissions of regression. Remember the Cedillo’s. This study also indicates that parental memory is not always 100% accurate.

    _”Also having a genetic marker for autism does not excuse an environmental insult from causing a regression; if that were the case then cigarette smoking would still be the #1 hobby of the human race.”_

    Very true, and again, not something I suggested.

    _”I just think that you still don’t have all the information that Dr Poling has regarding the decisions made in the concession.”_

    As far as I understand the decision made regarding vaccine damage (not related to seizures) we all do. The Zimmerman/Poling case study presents the entirety of Hannah Poling’s symptoms.

    _”Time will really tell whether he is really bluffing or are the cards he is holding really that strong to implicate regression from multiple vaccines is something to consider for this subgroup…”_

    Indeed – and bearing that in mind don’t you think its just a little premature (and dangerous, given how history has made a fool of the thiomersal/MMR hypotheses at the expense of public health) to be making unequivocal statements about vaccines definitely causing Hannah’s autism?

  5. Doc Strange April 12, 2008 at 18:47 #

    Kev,

    Great dissection of the piece. Reading Dr. Poling’s piece combined with the tone of his other recent media appearances has changed my initial impression of him as a concerned and thoughtful physician-parent. I got the sense from reading his AJC piece that he regards himself as a trailblazer in an exciting new breakthrough in solving the “puzzle” of autism with the “vaccines + mitochondrial “dysfunction” = autism” paradigm he is promoting, and I got the feeling, especially with that “scribbled by my 9 year old daughter” phrase that he believes his daughter’s clinical condition will help him make a name for himself.

    I also agree with you that it would not be the public health agencies that would be to blame for any serious outbreaks of vaccine preventable diseases, but the rumourmongering and misinformation put forth by folks like Kirby, McCarthy, and, well, let’s now add the Polings to the list…

  6. Sullivan April 12, 2008 at 23:51 #

    It is worth noting that Dr. Poling is not only speaking out to the community at large, but to the medical community, which does not entirely accept mitochondrial-PDD. I don’t think any of us have enough information to even comment on who is right or wrong in that debate.

  7. Kev April 13, 2008 at 06:33 #

    Hi Athena 🙂

    _”If one is autistic and the other isn’t, voila, a clear definitive without a doubt refutation of the autism vaccine link.”_

    Unfortunately not :

    Twin studies have already taken place and whilst they show a very high inheritance rate, it is not 100% which indicates that there must be some environmental influence.

  8. Matt April 13, 2008 at 06:41 #

    Twin studies have already taken place and whilst they show a very high inheritance rate, it is not 100% which indicates that there must be some environmental influence.

    what they mostly show is a variation of outcome. If one identical twin has autism, there is a 70% chance that the other twin does. Most people stop there. However, there is a 90% chance that the other twin has an ASD.

    “Environmental influences” start in the womb. All twins (not just ASD) often have rather different birth weights. Life and environment doesn’t start at birth.

    It seems rather unlikely that many identical twins have different vaccine records. That is another point often missed in these discussions.

  9. Charlotte Henry April 13, 2008 at 07:16 #

    My son has asd, apraxia, juvenile diabetes and he probably has mito but I am not going to rush out and get him a muscle biopsy to prove it especially when there is no treatment for mito disorder so unless we get a control group of parents who want to test these kids we will not have any definitive proof. I do think it is a breakthrough. I figured it was all related. I figured it out last October with the help of my Doctar friend as soon as we got the diabetes diagnosis.

  10. Schwartz April 13, 2008 at 07:18 #

    Kev,

    “I am not sure if you are purposefully distorting the truth or simply not as knowledgeable as you think.”

    That 40% number you keep quoting, I assume there is a peer-reviewed study to backup the number. A website published by some unknown group doesn’t usually qualify as credible.

    The link from that page goes to a news article which describes a new approach to genetic diagnostics. Even better, the quotes are completely conditional, and not concrete as you continually allege. The article itself is problematic because it gets some facts completely wrong (see the comment) it starts out alluding that the 40% is fact, but later qualifies it with this revelation:
    “Drs. Schaefer and Mendelsohn estimate that their structured approach would lead to a diagnosis in approximately 40 percent of patients with autism.” That is a pretty weak statement “estimate… would lead…”

    Sounds like guesswork.

    The 10% number from other places sounds a lot more credible:

    “Susan E. Swedo, chief of the Pediatrics & Developmental Neuropsychiatry Branch at the National Institute of Mental Health (NIMH), explained how clinical manifestations of autism can shed light on environmental causes. “About 10% of autism cases are caused by a known genetic defect; 1% are caused by a teratogen, such as valproic acid used to treat epilepsy; and the rest have no known cause,” she said. “All of us are looking for an environmental trigger in a genetically susceptible population.””

  11. Kev April 13, 2008 at 07:35 #

    Sorry Schwartz, I just assumed assumption was the ‘in’ thing these days? Hell, if a Johns Hopkins neurologist can do it, a web developer from the UK should be able to as well, right?

    Besides (and not that I want to go down this particular side track):

    _”Drs. Schaefer and Mendelsohn estimate that their structured approach would lead to a diagnosis in approximately 40 percent of patients with autism.”_

    Sounds like two people being scientifically responsible with their words. I don’t construe that as weakness.

  12. Joseph April 13, 2008 at 15:01 #

    You can’t compare Dr. Sweado’s approach to Drs. Schaefer and Mendelsohn’s approach, which is a novel approach they have created specifically to detect more known causes. I’m not sure how Dr. Sweado arrives at that estimate, but it’s probably what you usually find in the autistic population in terms of typically diagnosed known causes.

    As to identical twin discordance, it doesn’t necessarily mean there are environmental triggers. It could also mean that there’s randomness in the world. Nothing that I know of is 100% heritable, especially nothing that is subjectively assessed.

  13. Bunny April 13, 2008 at 15:59 #

    I always want to know more about what is meant by “environmental trigger.” Lots of people take it to mean “toxic world” (i.e., pesticides, mercury in the tuna, etc.), but I assume there are other types of “environmental triggers” for autism. Bettleheim identified one, of course, although this has been discredited. Still, if you put a newborn baby in a closet and left him in there for three years (taking care of his physical needs but not interacting with him in any other way), he would surely come out “autistic.” That environment would trigger autistic behavior. So I’m interested in everything that could fall under the category of “environmental trigger.”

  14. Caroline Rodgers April 13, 2008 at 16:19 #

    While debating exactly what percentage of autistics might have mitochondrial disorders, let us give some thought to what could cause mitochondrial disorders in the first place. Most people will be surprised to learn there is evidence that ultrasound can irreversiably damage mitochondria (STEPHENS, R.H., TORBIT, C.A., GROTH, D.G., TAENZER, J.C., & EDMONDS, P.D. (1978) Mitochondrial changes resulting from ultrasound irradiation. In: White, D. & Lyons, E.A. ed.Ultrasound in medicine, New York, Plenum Press, Vol. 4, pp.591-594). Could the increasingly prevalent use of prenatal ultrasound be the mysterious “environmental trigger”? While researchers pour countless millions of dollars into trying to discover the genetic root of autism, how about stopping long enough to try to figure out what is causing the mutations?

  15. Ms. Clark April 13, 2008 at 20:08 #

    What Schaefer has shown is that there are many cases of autism where the cause is not obvious. There are some kids who by age 10 or so have totally obvious Fragile X… and for some of them they might have been obvious even before that if you took the kid to someone who knows what Frag X looks like in young children. But that’s only one disorder, other disorders are not so obvious and a child can have a “milder” form of it and not be externally so obvious… like a kid could have Angelman’s and not have the “classic Angelman’s” appearance so it gets missed, but the child could have seizures and speech delay and get merely labeled “autistic”.

    Besides that, there are things like agenesis of the corpus collosum that are not going to be found unless you do an MRI. And some that might be suspected but couldn’t be confirmed until you do an MRI.

    Dr. Schaefer’s 3-tier or 4-tier protocol of looking for causes of autism is extremely thorough and they put some of the kids in an MRI to rule out those obvious problems (this is rarely done in most clinics).

    How many autistic kids 15 years old or older had any of the tests done that Schaefer recommends now? Probably none of the normal appearing kids, and probably very few of the slightly dysmorphic kids ever saw a geneticist. And there are plenty of autistic kids who are at least slightly dysmorphic (mine being one of them). There are plenty who look totally normal to me, too, but even some of them might have dysmorphology that I can’t spot in their photos (say of the way their fingers/toes/hands/feet are formed).

    The 10% number is like saying I walked through this dry stream bed and I found X number of gold nuggets laying on the surface of the ground, therefor there is only that much gold to be found in that stream bed. The 40% number is like saying,

    “Yeah, anyone can find X number of gold nuggets laying on the surface, but anyone with any insight at all would dig a little. In fact I dug and found 4 times as many gold nuggets when I dug down this far.”

    Pardon my yelling, but what part of “Autism is the most heritable of all mental/developmental disorders.” Don’t people understand?

    I think the problem is that some conceited people understand it just fine. They are just massively freaked out because they don’t want anyone to think that their own genes were “defective” and so they scream bloody murder about “the environment.” I’d name names, but I better refrain from doing that here.

    As for who is more credible… I’ll take the word of a genetics professor who has seen a gajillion kids with genetic defects and congenital defects over someone who has no clue for what to look for in disabled kids.

  16. Ms. Clark April 13, 2008 at 20:19 #

    Also, to whatever extent autism or “autism” is caused by mitochondrial disorders you can bet that a large percentage of that teensy percentage are genetic.

    A large number of genes impact the way the mitochondria work (so I understand), so a defect in any of those genes could cause a mitochondrial problem or difference, maybe it would be benign, maybe it would be quickly fatal, maybe something in between.

    You don’t need to invoke some actionable chemical to explain a health problem, but people are only interested in actionable chemicals. They won’t talk about a common, naturally occuring chemical like oxygen or glucose or sodium chloride, because there’s no one to sue unless it’s not a chemical made by a chemical company or as a byproduct of some manufacturing process. Viruses make nasty chemical toxins, vaccines can prevent exposure to thost nasty toxins, but people are more afraid of imaginary toxins in a vaccine than the real toxins made by the viruses and bacteria living around them.

  17. Bunny April 13, 2008 at 22:48 #

    Ms. Clark,

    You hit on exactly what I was thinking. When antivax people talk about the “environment” causing autism, they seem to mean “the bad things around us created by chemical companies.” So when they hear a scientist say “environmental trigger,” they take that as a concession on the part of science, and validation of the antivaxer belief that pollution, bad fish, etc., combined with toxic chemicals in vaccinations, are triggering autism in kids.

    But if toxic chemicals, pollution, and bad fish “trigger” autism, wouldn’t half the kids in, say, China have it? It is my understanding that kids in China are vaccinated for stuff like measles well before they turn one (i.e., even earlier than in the US). Those vaccinations combined with barely-regulated manufacturing, emissions, and lead paint use, plus a fish-heavy diet, should technically be resulting in a mass number of cases of autism in Chinese children.

  18. Schwartz April 14, 2008 at 00:20 #

    “Sorry Schwartz, I just assumed assumption was the ‘in’ thing these days? Hell, if a Johns Hopkins neurologist can do it, a web developer from the UK should be able to as well, right?”

    🙂

    “Sounds like two people being scientifically responsible with their words. I don’t construe that as weakness.”

    Responsible yes — and in weak, I didn’t intent to imply bad, but more, that it was a statement of hypothesis, not observation. There is a big difference between the following statements:

    “Drs. Schaefer and Mendelsohn estimate that their structured approach would lead to a diagnosis in approximately 40 percent of patients with autism.”

    That’s a hypothesis.

    “Secondly, it should be noted that approximately 40% of autism can be accounted for genetically. This already makes it the single largest established cause(s).”

    Your statement makes it one of observation. Big difference.

  19. Schwartz April 14, 2008 at 00:26 #

    Joseph,

    I’m a huge fan of better diagnostic techniques. My main issue with the semantics here is that the authors are making a hypothesis about the 40% where the number is being bandied around as one of observed results, which is not the case.

    “As to identical twin discordance, it doesn’t necessarily mean there are environmental triggers. It could also mean that there’s randomness in the world. Nothing that I know of is 100% heritable, especially nothing that is subjectively assessed.”

    I think it is highly likely that that 40% may very well be true, in that many (maybe 40%, maybe more) Autism cases have a genetic component. However, that article is being used to imply that 40% of the cases have sole genetic causes that are known.

  20. Schwartz April 14, 2008 at 00:45 #

    Ms. Clark,

    The problem is that the Authors have made a statement of hypothesis, not observation.

    I hope they get the funding to run a proper study to test it out.

    “Pardon my yelling, but what part of “Autism is the most heritable of all mental/developmental disorders.” Don’t people understand?”

    I hope you don’t yell at me for my response — as I obviously don’t fall into the category of names. I think that the issue with assuming it is pure genetics, is that though there may be a strong genetic component in the path of causation, many people don’t believe it is the only factor in many of the cases. A genetic contribution does not require a mutation, or a disorder.

    There are many genetic factors in people that alter a person’s risk for disease X, but actually getting disease X still requires an external factor since the genetic portion affects only the risk.

  21. Schwartz April 14, 2008 at 00:48 #

    Bunny,

    I think that environment vs genetics, is equivalent to nature vs nurture. If something doesn’t have a distinct genetic cause, it is generally referred to as environment.

    The tricky part, is that environment and genetics can interact, and affect each other.

  22. Ms. Clark April 14, 2008 at 00:49 #

    “Secondly, it should be noted that approximately 40% of autism can be accounted for genetically. This already makes it the single largest established cause(s).”

    Schaefer, in one of his papers indicated that he thought the number was really 50%.

    See, here’s how easy it is to be confident of that number. First you be Brad Schaefer or someone with his expertise, and then you have or you get some funding for the necessary tests. Then you test 3 (three) or more randomly selected ASD kids (from anywhere) with your protocol. Out of every 2 kids you’ll get an average of about ONE will have a known genetic disorder or prenatal exposure to a known autism associated teratogen (such as valproic acid or rubella). The numbers will be more confidence inspiring if you test more than 2 kids. If you test kids continually with your protocol, say you get up to 100 or 300 and your colleagues are using this protocol now in other centers and you have 1000 or 2000 or more kids who have been run through this protocol… then your estimate is not so weak… but the thing is, once you discover a method for how to find the apparent causes of 50% of cases of autism, all you need is two or three more kids to confirm you estimates….then a few more and a few more and you will continue to find that half of them have one of these known genetic problems.

    Not so weak a hypothesis it? Not so weak at all.

    Now if we can get everyone who can afford it to do this testing, they can confirm Dr. Schaefer’s findings or dis-confirm them rather quickly. Since all you need is a few kids to test to see if half are showing up with these listed disorders/conditions.

    Dr. Schaefer looks for mito stuff, he doesn’t find it terribly often. I asked him. That’s how I know.

  23. Joseph April 14, 2008 at 00:56 #

    Drs. Schafer’s 40% number is observed.

  24. Ms. Clark April 14, 2008 at 01:05 #

    The other important thing to remember is that apparently there has been no big increase in any sector of autism (regressive, non regressive, whatever). So there is no reason to go looking for anything that has changed in the environment. Neither is there any indication that there are parts of the world with say, twice as many autistic people as another part of the world. Even though there are parts of the world with a much bigger difference in the toxic exposures that people get.

    There are places that are hugely poisonous and there are places that are much less poisonous, and this has been the case for a long time (live near a volcano, be exposed to more mercury…) and no one has noticed large pockets of autistic people or communities with very few autistics…. though that is partly because no one has looked closely, except they did find those native Canadian people who had very few autistics, but at least normal mercury exposure and vaccine exposure as I recall. So far, in California there is no correlation between the more toxic counties and the counties with more autistic kids in the school districts and DDS Regions.

  25. Joseph April 14, 2008 at 01:18 #

    Neither is there any indication that there are parts of the world with say, twice as many autistic people as another part of the world.

    Well, there are parts of the world where autism seems to be diagnosed much more often than in other parts. Determining if such differences are real, as opposed to due to diagnostic practices, would go a long way in explaining much of the change observed in the epidemiology.

  26. Ross April 14, 2008 at 03:16 #

    “There are many genetic factors in people that alter a person’s risk for disease X, but actually getting disease X still requires an external factor since the genetic portion affects only the risk.”

    Autism is not a disease. In any case, Schwartz is arguing against a strawman. No one is saying that all “autism” is 100% genetic in 100% of cases. That would clearly be a stretch. What we are saying is that genetics are a big part of it, and that there are millions of “environmental” factors which may also play a role. Like Ms. Clark and Joseph are saying, there are very few mental/behavioral conditions with exclusively genetic causation. The idea that autism is still part of natural human variation is still quite valid.

  27. Schwartz April 14, 2008 at 06:42 #

    Joseph,

    Observed in a specific group referred to a genetic clinic. No selection bias there.

    Even still, I would be interested in reading the study. Is it available for free anywhere?

  28. Schwartz April 14, 2008 at 06:50 #

    Ross,

    “Autism is not a disease.”

    No, but it can be caused by several.

    “No one is saying that all “autism” is 100% genetic in 100% of cases.”

    You’re right, they are saying that 40% of the cases are purely genetic.

    No one is arguing against your black and white strawman at all. The debate is about the percentage, not the concept. The claim put forth states that 40% of autism are explained by genetic disorders.

    At best there is weak evidence to suggest this. Even the authors basically state it as a hypothesis.

  29. Schwartz April 14, 2008 at 07:01 #

    Ms. Clark,

    “Not so weak a hypothesis it? Not so weak at all.”

    If the authors are still wording it as a hypothesis, then it doesn’t have a lot supporting it yet. I’ll judge the strength when I read the evidence.

    “Dr. Schaefer looks for mito stuff, he doesn’t find it terribly often. I asked him. That’s how I know.”

    Interesting to note that he does find it. Forgive my skepticism though, I wouldn’t exactly expect a geneticist in charge of a genetics clinic to be an expert in diagnosing mito dysfunction.

  30. Schwartz April 14, 2008 at 07:12 #

    “Well, there are parts of the world where autism seems to be diagnosed much more often than in other parts. Determining if such differences are real, as opposed to due to diagnostic practices, would go a long way in explaining much of the change observed in the epidemiology.”

    No doubt. General comparisons of varying rates of Autism between countries is an exercise in futility. Measurements in the US alone already vary drastically thanks to poor data amoung other issues. Given the number of possible confounding factors, making any generalized conclusions from differing rates is pure guesswork. One must examine each location in detail to determine all the possible confounding factors.

  31. Kev April 14, 2008 at 09:54 #

    I really think that the absolute best we can say right now is that the science is patchy. When we admit that then we behove ourselves to be very, very careful about wording absolute statements.

    For example, people are going to have great fun with this:

    Shoffner recently completely a retrospective analysis of 37 children with autism spectrum disorders and found that 65 percent of these children — children who had been referred to him because their doctors suspected additional problems — had mitochondrial defects

    And ignore or downplay this:

    However, that doesn’t mean that 65 percent of children with autism likely have mitochondrial disease. This was a select population of kids with autism, ones that had specifically been referred, because their doctors suspected a problem.

  32. Joseph April 14, 2008 at 16:56 #

    “Autism is not a disease.”
    No, but it can be caused by several.

    So can left-handedness. The point being what?

  33. Ivan April 14, 2008 at 21:58 #

    totally off-topic here:

    how long does it take approximately for the autism hub admin to decide whether or not to include a blog in the hub? and what are the criteria?

    I submitted “athenivanidx” to them a few days ago……maybe a week ago…

    just wondering. thanks

    Ivan of athenivanidx

  34. Schwartz April 15, 2008 at 00:49 #

    “So can left-handedness. The point being what?”

    You have to read it in the context of the thread and the analogy I was using.

    On a side note, I always found it amusing that changes in the prevalence of left-handedness is/was generally accepted as an indication of brain damage.

  35. Schwartz April 15, 2008 at 01:01 #

    Kev,

    Dr. Shoffner’s study will have the same selection bias as Dr. Schaefer’s 40% genetics study. It looks like Dr. Shoffner was professional enough to point it out. Dr. Schaefer’s study should also have the same caveat applied. I’ll be able to check as soon as Wolters Klowers figures out how to accept Canadian credit cards.

    I’ll just note you didn’t publish such a caveat if it did exist.

  36. Ross April 15, 2008 at 02:42 #

    Unfortunately, not all of us can afford to be “amused” by attributing neurological difference to the nebulous term of “brain damage.”

  37. Sullivan April 15, 2008 at 03:48 #

    Applying the 4.1% estimate we can see that – at best and only if this data is all correct – mitochondrial autism may affect about 13,000 autistic people – 1.3%. If we took the lower range of 25% for regressive autism, we barely get over 1% (10,250).

    A further factor that is needed is the fraction that are definitely not related to vaccines. Right now, the conversation is being held as though “mitochondrial PDD” is synonymous with “vaccine injury”.

    Except for Dr. Poling’s paper, there is little indication in the literature that this is a condition largely attributed to vaccines. If Dr. Poling is aware of numbers that make it clear that this is largely a group who are not vaccine injured, he should make that clear. Otherwise, when the numbers are made public, he risks appearing to have been attempting to shape the public’s perception through managing the information. I.e. he will be in exactly the same position that many US governmental agencies are accused of being in now.

  38. Ms. Clark April 15, 2008 at 04:20 #

    Once more with feeling,

    Of the 40 or 50% of autistics kids for whom Schaefer found a likely or certain cause for their autism SOME OF THEM were actually environmental. Do I have to write that again?

    Schaefer’s protocol also looks for environmentally caused autism. Think about rubella. Think about it really slowly and
    thoroughly, it’s a vaccine preventable cause of autistic symptoms or autism, depending on how you define autism.

    Ru-bell-a.
    It’s a cause of autism.

    He also looks for the folowing:
    Fe-tal Al-co-hol Syn-drome,
    Fe-tal Val-pro-ate ex-po-sure.
    Cyt-o-megal-o vi-rus ex-po-sure.

    He looks for markers for metabolic disorders, including markers for mito disease. (gasp)

    This is not about showing that autism is only genetic. (gasp again)

  39. Ms. Clark April 15, 2008 at 04:59 #

    If you add up what all kinds of different researchers are estimating, based on all kinds of different samples it’s easy to come to a total of about 50% of all cases of autism can be accounted for at the moment if all the autistics were tested using the same tests as the researchers used…
    Here’s something from Nature

    “Autism: highly heritable but not inherited

    Arthur L Beaudet

    The author is in the Department of Molecular and Human Genetics, Baylor College of Medicine …

    The genetic basis of autism is beginning to come to light. De novo mutations in gene copy number may have a big role.

    Until recently, only 5–10% of autism cases were traceable to an underlying genetic cause. Two studies now change this. Jacquemont et al.1 and Sebat et al.2 suggest that this number is actually 10–20%, and it may grow to 30–40% with further research. The advance is based primarily on the use of a recently developed high-resolution genome analysis technique to identify de novo genomic deletions and duplications of tens to thousands of kilobases (kb).”

    This is just discussing the CNV’s. If I’m reading it correctly, it leaves out Frag X which could account for up to 10% of cases diagnosed as “autism” right now. It also leaves out MECP2 which may account for up to 15% of cases of girls (not currently diagnosed with Rett but with with a generic ASD). It leaves out the kids with undx’d SLOS and other disorders. It leaves out the kids with prenatal exposures to things like Rubella and Valproate and alcohol.

    The Schaefer paper points out that the more tests a given researcher puts his particular pool of autistics through, looking for a cause, the higher yield of diagnoses there are. It’s like, yeah, if you don’t look you won’t find some disorders. Very convenient for some of the parents of “vaccine damaged” kids who show photos of their obviously dysmorphic kids who could probably be properly diagnosed if they took the kid to a geneticist or to the right geneticist.

  40. Ms. Clark April 15, 2008 at 05:09 #

    And let’s not forget the Dr. David Amaral and friends want to claim about 20% of all regressive autistics got that way because of prenatal exposure to their mother’s anti-fetal brain antibodies. See we can account for a bunch of regressed autistics with that one and not need to invoke vaccine damaged mito kids as being the sum-total be all/end all/lets all stop vaccinating now because we figured it all out reason for all regressed autistic kids. :-/

  41. Kev April 15, 2008 at 07:47 #

    _”I’ll just note you didn’t publish such a caveat if it did exist.”_

    It was a joke Schwartz – however, even if it wasn’t, there’s still substantial evidence for a gentic(s) cause of autism causing ‘more’ autism than mito. So far.

  42. Joseph April 15, 2008 at 15:23 #

    Dr. Shoffner’s study will have the same selection bias as Dr. Schaefer’s 40% genetics study.

    Not exactly. I understand the patients referred to Dr. Shoffner were already suspected of having a mitochondrial dysfunction for various reasons. The patients referred to Dr. Schaefer were simply autistic kids referred to a genetics clinic. It’s possible Dr. Schaefer’s patients had some physical features that warranted genetic screening, but I nevertheless think there’s an important distinction there.

  43. Ms. Clark April 15, 2008 at 17:33 #

    From Schaefer & Mendelsohn 2008:

    “The current literature would suggest that the overall diagnostic yield for a clinical genetic evaluation into the etiology of autism is on the order of 15%. A critical review of the potential contribution of incorporating newer testing techniques suggests that yield can be significantly higher. Using the above information collectively , the following yields could conservatively be projected as
    * Prometaphase chromosomes (5%)
    * aCGH (10%)
    * Fragile X (5%)
    * MECP2 (5% females)
    * PTEN (3%)
    * Other (10%)”

    The selection bias that was there or not there for Schaefer’s first paper has nothing to do with the estimated amount of autistic people for whom a known or likely cause of their autism might be found. The fact is that when Schaefer used tests to look for a bunch of stuff he found results similar to what has been predicted by other researchers.

    Again, it doesn’t matter if there was an apparent selection bias, so far the facts from a bunch of different researchers add up to the same thing.

    If you bother to look adequately, you can find genetic and other causes of autism in many, many autistic people, for perhaps 50% or more of them right now if one is willing to pay for all the testing.

  44. Joseph April 15, 2008 at 17:58 #

    Another thing with Dr. Shoffner’s research is that he’s testing for something called “mitochondrial defects.” Dr. Schaefer is testing for syndromes that are presumably well studied. Is there any data that indicates to what extent the same “mitochondrial defects” occur in the general population or other populations? Seems doubtful.

  45. Ms. Clark April 15, 2008 at 21:31 #

    At the risk of pasting too much of the paper here, I thought this was interesting about the difficulty of testing for some metabolic disorders:

    Re “certain metabolic disorders” from Schaefer and Mendelsohn (2008):
    7. The association of certain metabolic disorders with autism has been known for some time. Patients with untreated phenylketonuria are consistently reported to have distinct autistic behaviors.58 With current newborn screening practices in place in the United States, this is hoped to be of historical interest only. The early neurologic features of mucopolysaccharidoses may look strikingly similar to what is seen in the so-called autistic regression syndrome. Although some would strongly advocate routine metabolic
    testing in patients with autism, there is little evidence that “standard” metabolic testing is a high-yield diagnostic option in patients with autism without independent clinical indicators of a metabolic disorder. With the addition of expanded newborn screening using tandem mass spectroscopy, many such conditions will have been screened for as a newborn. A very low-cost component of the evaluation would be to simply obtain the results of the patient’s newborn screening. Recent years have seen the description of a host of newly described metabolic conditions that have been reported in association with an isolated autism phenotype (Table 3). Testing for these conditions can be quite
    involved and require the utilization of multiple reference laboratories across continents. As with other conditions
    noted earlier, these have been mainly reported anecdotally, and have not been assessed as part of a systematic study. As
    such, routine testing for these disorders cannot be recommended at this time.
    In the meantime, targeted screening would seem to be a reasonable compromise. Screening
    would entail random serum and urine uric acid levels. If these are elevated, obtain a hypoxanthine-guanine phosphoribosyl transferase and phosphoribosylpyrophosphate
    synthetase superactivity testing. Alternatively, if they are low, obtain a purine/pyrimidine panel (uracil excretion
    plus xanthine and hypoxanthine levels).”

    My kid just had a “metabolic panel” ordered by a geneticist based on the fact that my kid has low muscle tone… that metabolic panel found nothing. Maybe my kid is one of those mito kids (ooooh), but my kid has no other signs of a mito disorder and did not regress developmentally at all, but did have a significant period of no growth during infancy. No one knows why, so far.

  46. Schwartz April 16, 2008 at 05:16 #

    Joseph,

    Study groups that consist of referrals to a specialist clinic are always subject to referral bias by definition.

    Arguing the level of selection bias is pretty pointless.

    I still can’t buy the study so I am curious if Schaefer pointed out the weakness as Dr. Shoffner did.

  47. Schwartz April 16, 2008 at 05:25 #

    Ms. Clark,

    That was worth the post. Good info. If it is determined that this type of test is important, the good thing is that science is often quite capable of finder faster and cheaper ways to test things in high demand.

  48. Doc Strange April 16, 2008 at 08:03 #

    Ms. Clark,

    Did I miss something? What are “CNV”‘s? Thanks for the info from the papers.

    At the risk of sounding arrogant, it seems pretty obvious to me that there are *numerous* “causes” of autism…think about all the factors mentioned above, Fragile X, PKU (interestingly I came across a comment on EoHarm with a paranoid tone referring to “that” PKU test as if people didn’t want an easily identifiable and preventable cause of autism to be identified at birth – these same people that want all children tested for mitochondrial “dysfunction” before their immunizations…but I digress…), etc. etc.

    I agree that Dr. Poling’s path seems to be targeting vaccination-induced mitochondrial “dysfunction” as a cause of autism. Opening the door to the concept of mitochondrial “dysfunction” vs. the well-known and documented, heritable mitochondrial disorders has created a lot of confusion, I think, in the general public as well as the scientific community and there is or will be a definite need to clarify a distinction between this idea of “dysfunction” and disorders.

    I’m still working on trying to understand how the theory of mitochondrial dysfunction directly ties into the clinical signs and symptoms of autism. Sure, in the lab you can cause mitochondrial “dysfunction” or damage from a number of different mechanisms, but in order for that to mean anything clinically the dysfunction has to be systemically severe enough to affect brain function, or specifically located in neurological tissue. So neurologists, like Dr. Poling, will need to keep working on connecting the dots. Mitochondrial disorders, i.e., genetically inherited syndromes do have a known history of causing developmental disabilities and can be included in the laundry list of medically-accepted causes of autism.

    The brain is pretty much at the mercy of the continuing sound functioning of every other system of the body, but our systems try their best to preserve neurological function at all costs. For example, in a shock-like state, blood flow is preferentially shunted from organs like the kidneys and the GI tract to the brain and heart. But if you cause enough damage to the liver, the kidneys, etc., eventually you’ll end up with neurological symptoms (hepatic encephalopathy, Wilson’s, etc.). I mention that only because it’s one thing to state that a substance or metabolic process causes “toxic” damage to a cell type, organelle, mitochondria, what have you, in the lab, and another thing altogether to see that cellular dysfunction cause clinical symptoms.

    Genetic, inheritable mitochondrial disorders can be tested for (and may also be screened for, although the cost and clinical effectiveness of population-wide screening needs to be examined); it’s an involved and unpleasant process as parents can attest to; the “mitochondrial dysfunction” that I’ve seen mentioned on “vaccines cause autism” sites – that, I’m not convinced can be effectively tested for or screened for (or it might be in the category of the heavy metal testing etc. that the “biomedical” folks are big fans of).

    (Sorry for the quotes around certain terms…I am trying my very best to take a neutral, non-hostile stance on this topic as I’ve seen the trouble caused by hate-ah’s on both sides of the issue…and I would like to optimistically think there don’t need to be sides when we’re looking at the issues of causative factors of autistic spectrum disorders and the public health focus of the immunization program.

    Peace and love.

  49. Ms. Clark April 16, 2008 at 08:59 #

    Doc Strange,

    Oh please, don’t give me that, “can’t we all just get along?” garbage! Some of us come here to argue! (I’m kidding.)

    CNVs are copy number variants.
    http://autismdiva.blogspot.com/2007/05/copy-number-variants-and-autism.html
    http://en.wikipedia.org/wiki/Gene_copy_number

    as opposed to CMV
    cytomegalovirus.

    or DMV
    Dept of Motor Vehicles

    or back on topic: DMZ
    DeMilitarized Zone. 🙂

  50. Ms. Clark April 16, 2008 at 09:10 #

    Schwartz,

    You are right, of course (about cost coming down), but in order for there to be a demand for a screening test (outside of the demands of a handful of bizarro parents with Munchhausen’s leanings), there needs to be a treatment for the disease. People don’t do population screenings for diseases for which there is no logical/ethical treatment.

    Like when they started screening all the newborns for PKU, they already had an idea of what to do with the babies who tested positive.

    So far, even David Kirby admits that babies who test positive for mito problems might be first in line to need vaccines, and there’s no evidence that it was the combination of vaccines that triggered Hannah’s apparent problems. I take all of what is reported by her parents with a grain of salt. They have significant conflicts of interest.

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