Mitochondrial Autism Not Rare

NEW STUDY - "Mitochondrial Autism" is Real; Vaccine Triggers Cannot Be Ruled Out

Posted: 11/28/08 05:08 PM ET
The December 1st issue of Time Magazine carries a special section on "The Year in Medicine," which mentions the case of Hannah Poling, the young girl with autism who received compensation from the federal vaccine injury program. Like many news accounts back then, Time has called the case "rare," because it involved an underlying dysfunction of Hannah's mitochondria, the little powerhouses within each cell that produce energy.
The widespread misconception that Hannah's case was "unique," and without any bearing on other autism cases, was promulgated by opinion leaders such as CDC Director Julie Gerberding and the newly rich vaccine inventor Dr. Paul Offit, (who told Newsweek that his share of the royalties from the vaccine was "like winning the lottery.")
But on Wednesday, a new chart-review study was published showing that "mitochondrial autism" is not rare at all. 

"These and prior data suggest a disturbance of mitochondrial energy production as an underlying pathophysiological mechanism in a subset of individuals with autism," wrote the authors of the study, "Mitochondrial Disease in Autism Spectrum Disorder Patients: A Cohort Analysis."
In fact, the authors wrote that mitochondrial dysfunction "may be present in a substantial percentage of children with ASD." (They did not mention prevalence in adults with autism).
I first reported on this phenomenon back in March, when I interviewed one the of the study's authors. Back then, I wrote that mitochondrial dysfunction was detected in 7-to-30 percent of people with autism, and that genetic mutations that might confer such dysfunction could be as common as 1 in 50 people in the general population.
Now, I freely admit that I do not understand everything written in this new study. But there are a few things that I think are worth pointing out.
I have long held that there are many different subsets of autism cases. One such group is made up of children who were developing normally, only to regress later - typically between one and two years of age. Nearly all of the children in my book regressed into autism - a process that often began almost immediately after receiving multiple vaccinations.
Perhaps that is why the very idea of regressive autism has been cause for derision among many scientists, who insist that the parents were simply too ignorant to "notice" autism symptoms in their children earlier on.
But among the 25 children in the chart review, 14 of them, or 56%, suffered from "regression of previously acquired skills." This is a rate that is significantly above the roughly "one third of autistic children" in general who are reported to have regressed, the authors said. So then, not only is regressive autism real, it seems to be almost twice as common in cases of "mitochondrial autism," (the authors; words, not mine).
Most of the children in my book - and Hannah Poling as well - had rather severe physical, biomedical problems associated with their regression. Again, this claim has been met with scorn by many in the medical and science communities, who say that autism is much more of a behavioral/neurological than biomedical condition. Parents and doctors who do try to treat these physical symptoms - with conventional and alternative therapies alike - are singled out for particular damnation by many of these so-called experts.
And yet, the authors of this study found the following:
Twenty-one patients (84%) had histories of major non-neurological medical problems, most commonly of the gastrointestinal system, with gastroesophageal reflux affecting nine and constipation affecting eight subjects. Seven patients had structural or functional cardiovascular abnormalities. In addition, 17 patients had excessive fatigability or exercise intolerance and several children had abnormal physical exam findings including six with facial dysmorphism, four with microcephaly, four with macrocephaly, and five with growth retardation.
Again, biomedical problems - in addition to regression - may be more common in the subset of children with "mitochondrial autism."
Much more research is needed in this regard. As the authors noted: "it is possible, if not likely, that a still broader clinical, biochemical and genetic spectrum of mitochondrial autism exists."
Of the 25 children in this study, only two (8%) had specific mutations in their mitochondrial DNA that are considered pathogenic (disease causing). Mitochondrial DNA is inherited from the mother only. And though mutations in the nuclear DNA (inherited from both parents) can affect mitochondrial function, the authors wrote: "It is possible that there are important environmental or genetic factors in addition to the mtDNA mutation" in the development of autism in some cases.
This finding is not inconsistent with an earlier estimate from the Cleveland Clinic, which says that 75% of mitochondrial disorders are "sporadic" in nature, meaning they were probably triggered by environmental factors. Heavy metals, pesticides, formaldehyde, alcohol and some medications can damage mitochondria, especially in developing fetuses, published studies show.
The authors used reference levels to measure "blood lactate and pyruvate, plasma alanine, urinary organic acids, CK (creatine kinase) AST (aspartate transaminase) and ALT (alanine aminotransferase," they wrote. And they added that, "Biochemical evidence of mitochondrial ETC dysfunction included increased blood lactate and pyruvate levels, elevated plasma alanine level, and increased urinary levels of Krebs cycle intermediates or 3-methylglutaconate."
This is significant because one day, we may routinely test children for signs of mitochondrial dysfunction. Such tests might be able to predict which children are most at risk for autistic regression and other developmental problems. They could also be quite useful for diagnostics and biomedical treatments in children with autism.
Here is where the long knives of science really come out. And it is why the Hannah Poling case is so extraordinarily controversial.
"Recently, there has been increased concern regarding a possible causative role of vaccinations in autistic children with an underlying mitochondrial cytopathy (cellular disorder)," the authors wrote. "For one of our 25 patients (Hannah, who DOES have autism, contrary to claims by Gerberding, Offit et al, who erroneously insisted, without ever meeting the child, that she only had "features" of autism), the child's autism/neurodevelopmental deterioration appeared to follow vaccination. Although there may have been a temporal relationship of the events in this case, such timing does not prove causation."
Maybe not - but one must wonder, then, why medical personnel at HHS's Vaccine Injury Compensation Program conceded that the "cause" of Hannah's "autistic encephalopathy" was "vaccine induced fever and immune stimulation that exceeded metabolic reserves."
When I first reported this story, the researcher I spoke to told me there had been 30 children in the study, and two of them (8%) showed signs of brain injury from vaccines. Of the five children since excluded from the final published review, one must have been the second vaccine-related regression.
Most of the children had regressed following illness-induced fever, the doctor told me. But now I wonder how accurate that statement was.
Why? Because we now find out that nine of the children (36%) had so-called "multiple regressions," and nothing in this review indicates that any attempt was made to determine if vaccines, febrile infections, or some other factors acted as triggers in the subsequent regressive episodes.
But there is no mention at all in this new review of parental interviews, nor of comparing vaccination records with the timing of the regressions. Likewise, there was no attempt in the paper to explain the regressions with other illnesses or stressful events.
No wonder, then, that the authors themselves conclude that "there might be no difference between the inflammatory or catabolic stress of vaccinations and that of common childhood diseases, which are known precipitants of mitochondrial regression."
In fact, they added: "Large population-based studies will be needed to identify a possible relationship of vaccination with autistic regression in persons with mitochondrial cytopathies."
This statement will surely be heartily endorsed by the United Mitochondrial Disease Foundation (UMDF), which supports research into mito dysfunction and autistic regression. Last April, at a vaccine safety meeting at HHS in Washington, a leading scientist affiliated with the UMDF, Dr, Douglas Wallace of the University of California at Irvine, said that over-vaccination of people with mitochondrial disorders was a deep concern, especially in light of Hannah Poling, who got nine vaccines at once.
(Time Magazine said she got "five injections" but failed to mention that two of them contained triple vaccines. Time also said that Hannah's situation was "unique," which is demonstrably false and will require a correction).
We have always advocated spreading the immunizations out as much as possible because every time you vaccinate, you are creating a challenge for the system, Dr. Wallace testified. And if a child has an impaired system, that could in fact trigger further clinical problems.
I took that to mean that children with impaired mitochondria might also have impaired immune systems. And children with impaired immune systems might not be able to handle nine vaccines at once.
There were many other very interesting findings from this review that should be followed up by scientists as soon as possible. For example, the ratio of boys to girls was roughly 1-to-1, as opposed to the 4-to-1 boy/girl ratio found in "idiopathic" cases (or, autism of unknown origin).

The rate of multiple births is also intriguing and deserves further investigation. Also, some of the siblings of the autism cases also had mitochondrial disorders, but did not regress into autism. This fact would be extremely important in developing a susceptibility hypothesis, rather than a genetically predetermined disease process..
Finally, the youngest children in this chart review were two years of age. I was told that the review first began five years ago, meaning that all of these cases were born before 2002. That is significant because most of these children would have received a large number of vaccines containing thimerosal - the preservative made with 49.6% mercury - which is a known toxicant to mitochondria.
One would expect that this new study would prompt Time Magazine, Julie Gerberding and Paul Offit to issue statements of correction on the "rarity" of mitochondrial disorders in autism.
But one should not hold one's breath, in my opinion.