How Significant Is New Research Linking Mitochondrial Disorders and Autism ?
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Now, Shoffner has written a second paper which takes the mitochondrial disorder/vaccine/autism connection one step further. According to a Reuters article:
U.S. researchers have found a genetic link between autism and a muscle-weakening disorder known as mitochondrial disease, they said on Sunday, in a finding that may open new avenues of research into the causes of autism.While this is an interesting study, and it is certainly getting good press, it is simply an interesting study. It suggests that some people with autism also have markers for mitochondrial disorder - but says nothing about whether one causes the other, or about whether there is any connection whatever between mitochondrial disorder, vaccines, and autism."Recent studies have suggested that as many 20 percent of patients with autism have markers for mitochondrial disease," said Dr. John Shoffner, a neurologist and geneticist at Medical Neurogenetics in Atlanta, who presented his findings at the American Academy of Neurology meeting in Chicago.
"There has really not been much work done so far to push that issue," Shoffner said in a telephone interview.
Mitochondrial diseases are a set of genetic disorders in which energy-producing structures in cells are impaired. The disease is often triggered by an illness, such as a high fever, which can result in severe muscle weakening.
Shoffner wanted to see if he could identify the underlying genetic mechanisms that might explain this link.
He evaluated genetic samples and clinical information gathered on 37 children diagnosed with autism who had been evaluated at his clinic for mitochondrial disease.
They found more than 60 percent of these children had mitochondrial defects.
Shoffner said the finding needs to be confirmed in other studies, but it does help to validate the hypothesis of a link between the two conditions in a subset of patients.
Another study conducted in Portugal ("Mitochondrial dysfunction in autism spectrum disorders: a population-based study," Dev Med Child Neurol. 2005 Mar;47(3):148) has been cited by some as additional proof of a cause and effect connection between autism, vaccines and mitochondrial disease. But that research report, in its abstract, makes the point that there is an "association" between the two conditions - not a causal connection. An association means simply that two things are the case, not that one causes another. For example, brown hair may be associated with brown eyes, but of course one doesn't cause the other. Yes, there could be a causal connection, but the study provides no evidence to back up such a claim. Like Shoffner's study, the Portuguese study does not explore any connection to vaccines.
There are other issues to consider as well, relative to Shoffner's study.
Shoffner is not just an uninterested researcher. He's also closely connected with the Polings - who just won a major case in the Vaccine Court based on a connection between autism, vaccines, and mitochondrial disease. Shoffner worked with Poling to write up Hannah's case study as a research paper ("Developmental regression and mitochondrial dysfunction in a child with autism," Child Neurol. 2006 Feb;21(2):170-2), so it seems reasonable to suppose that he had, at least, both a personal and professional stake in the outcome of the case.
What's more, questions came up for me in the statement that that the children tested were "37 children diagnosed with autism who had been evaluated at his clinic for mitochondrial disease." Of course, I don't know why they were at his clinic being evaluated for mitochondrial disease, but it seems reasonable that they were there because they had symptoms that suggested mitochondrial disease. Thus, the fact that a large percentage did, in fact, have mitochondrial defects may not be terribly surprising.
In short, I think we are at the very earliest stages of understanding anything at all about mitochondrial disorders - and at an even earlier stage in making connections between such disorders, vaccines, and autism. Shoffner made the point that his research must be replicated - and, I would add, it should be replicated by researchers who are able to disassociate themselves from the Polings' now-famous case, and to select research subjects randomly.
I look forward to the outcome of such research!
Comments
You are coming at this very skeptically which isn’t all bad. However, I think all leads should be explored and I think this lead definitely does deserve exploration. In reality it will probably only affect a small portion of the autistic population but every piece of the pie needs to be examined and understood. And if we can break autism into different subtypes we are well on the road to finally bringing solid science into a predominately mythical disorder. I suspect that my son may fit into this category due to his low muscle tone and difficulty gaining weight and abnormal walking and running gait. The potential does exist then for vaccines to aggravate children born with a mitochondrial problem but we are definitely speculating way to far in advance of actual facts and the mitochondrial disorder in and of itself could cause the autism.
Thanks for your comment, Martha!
You make a good point about the need to parse out the different subgroups of people with autism. As you say, it seems likely that we will find many different causes affecting different people.
In fact, I wouldn’t be surprised if, in five or ten years, the autism “spectrum” is replaced by several quite distinct diagnoses.
Mitochondrial disorder may, indeed, be the key to at least one such diagnosis. Here’s hoping we learn more soon!
Lisa (autism guide)
Interesting slant on the Poling case and Portugal study. Certainly it is not yet clear whether mitochondrial dysfunction causes, is directly, or indirectly associated with the development of certain types of autism; but I suspect that any parent of a child with any form of mitochondial dysfunction will now wish to be comprehensively informed that the child’s condition is a risk factor for autism through vaccination. Mitochondial dysfunction is not rare, it is commonly associated with many acute and chronic disorders and also can be caused acutely by some of the vaccine adjuvants (eg thimerosal induced mitochondrial problems are well described), and is a consequence of inflammation of the brain (a side effect of some vaccines with and without thimerosal eg MMR and modified DTP), so not only specific vaccines need to be considered per child for risk/benefit but also the scheduling of certain vaccines which may present a risk of inducing an acute mitochondrial dysfunction only to be followed months later by the “straw that breaks the camels back” in another vaccine - not unlike one possibility in the Poling case.
Iack wrote:
“but I suspect that any parent of a child with any form of mitochondial dysfunction will now wish to be comprehensively informed that the child’s condition is a risk factor for autism through vaccination.”
Now that is an example of a non sequitur conclusion. Vaccines are not actually implicated in Hannah Poling’s autism, that is if she is indeed autistic, which seems to have acquired alarmingly elastic criteria including an overlap with features of mitochondrial disorder. Hannah’s mitochondrial disorder was exacerbated by vaccines as conceded by HHS and maybe they didn’t do anybody any favours with that decision. However, the encephalopathy that ensued had ‘autistic features’, which all and sundry take to mean as autism. I’ve been told that that terminology would probably exclude autism, since if that’s what they meant they would have said so and they didn’t. Since the Polings have been rather coy about releasing the details of this case, we’ll have to wait and see if this is just temporal correlation of autism with comorbid mt regression or simply mt regression, which can happen at any time because the one thing that HHS has not said and have reiterated that they have not said - these vaccines did not provoke autism.
Now if mt regression is now autism there should be a really high autism rate for children with mt - a known rate just by contacting the mt organisations. No need to do the autism children referred for an mt check. They should be really really visible, sizeable proportion of the membership of mt organisations - enough of them that the parents, therapists, teachers, OTs and PTs, who’ve all had lots and lots of experience with autistic kids would pick this up quickly. Strange, but that does not seem to have happened.
Actually, I don’t think Jack’s comment is a non sequitur at all. What parents will want is not at all the same thing as what scientists will find. Parents are going to be concerned about vaccines, and will have read a great deal about the Poling case. I suspect that Jack’s quite right: parents will want reassurance that vaccines are safe for THEIR CHILD - and the Poling case will make them more likely to demand screening for mitochondrial disease. The question of whether there actually is a LINK between mito and autism is a whole different issue!
Lisa (autism guide)
Ah, yes…wait and see what other researchers come up with…after applying for grants and being turned down, until someone can figure out how to make a Pharma-buck or two.
Fact is, anyone who actually cared about stopping autism has a population well over 1/2 million to do testing on, but let’s plod along until we can see what a few more people have to say about it first. That way we’ll have maybe 3 or 4 million to test. Does it matter to anyone how much pain - physical pain - these children have? Does it matter to anyone that it destroys families? Does it matter to anyone it is an economic time bomb? No, the only testing that’s being done is whith the full catalogue of pharmaceuticals - regardless of any side effects or long-term ramifications. No one says “wait” when it comes to dosing a cocktail of psychotropics. When someone does look at potential causes, and seems to have found something, it isn’t supported - it’s belittled and ignored.
No. ..we don’t really need to seriously examine the possibilities…it’s just kids with autism. They can’t talk.
I had a vaccination, a booster for Tetanus, etc. about a year ago, and I have had pain in
that shoulder ever since, and am suspected of
having secondary Mitochondrial disease. The doctors have no explanation for the permanent pain at the injection area, nor are they seemingly interested in discussing it. I find that interesting in its own right.
Hannah Poling was not tested for mitochondrial disease until after she had autism and after she was vaccinated. There is no way to claim that it was an underlying mitochondrial disorder which was then exacerbated. It could have been underlying, but unless she was tested and shown to have it before she was vaccinated, it cannot be claimed to be underlying. Assumptions have to be proven. To use this assumption, it would have to be proven that mitochondrial disorders never arise during people’s lifetimes and never due to any environmental events. This is definitely not proven and therefore cannot be assumed.