The revenge of the return of the resurrection of the “autism as mitochondrial disorder” notion

If you need some woo, and you need it fast, who ya gonna call? HuffPo!

Yes, as I’ve pointed out since its very inception, if there’s one thing The Huffington Post is good at doing, it’s butchering medical science and serving up regular heapin’ helpings of the purest woo. Be it the anti-vaccine pseudoscience that has dominated its pages from the very beginning (including posts by our old friend Dr. Jay Gordon), the quantum woo favored by Deepak Chopra, or the rank quackery that’s been showing up on HuffPo’s pages more and more frequently over the last two years or so, there’s no “respectable” news outlet that lays down pure pseudoscience and antiscience on as regular a basis as HuffPo does. If you want a concentration of woo more powerful than the “Lifestyle” or “Health” sections of HuffPo, all that’s left is,, and

One of the denizens of HuffPo who’s provided me copious blogging material is one Dr. Mark Hyman, he of the “Ultrawellness.” Every time I read the term “Ultrawellness,” I always think of A Clockwork Orange and wonder if Ultrawellness has anything to do with the ol’ ultra-violence. It doesn’t, really, at least not violence violence. It does appear to have a lot to do with engaging in a bit of “ultra-violence” against science, reason, and logic, though. Through an elaborate bit of woo known as “functional medicine,” Hyman and his droogs regularly do to science and medicine what Alex and his droogs did to an elderly vagrant and later to Mr. Alexander and his wife in A Clockwork Orange. It’s hard for me, while reading one of Hyman’s articles, not to visualize him dancing about as he sings “Singing in the Rain” between kicks to science’s solar plexus perfectly timed to the song.

So it was, as I read Hyman’s latest, entitled Autism Research: Breakthrough Discovery on the Causes of Autism. It’s a perfect example of how Dr. Hyman so frequently takes a recent study, and then goes right off the deep end with it. It’s also proof positive that an idea that anti-vaccine loons had taken and run with a begining nearly two years ago, namely that autism is caused by mitochondrial disorders (never mind how rare such disorders are) is very likely a permanent addition to the anti-vaccine canon. First we had the Hannah Poling case. Then, instead of autism being a “misdiagnosis for mercury poisoning,” as Age of Autism used to claim when it claimed constantly that mercury in vaccines cause autism, suddenly autism was a “misdiagnosis for mitochondrial disorders“–exacerbated by vaccines, of course. Because in the end, whether it’s mitochondrial disorders or vague “susceptibilities,” it’s the vaccines. It’s always about the vaccines.

In any case, the whole “mitochondrial diseases as the cause of autism” had faded into well-deserved oblivion as an interesting hypothesis that doesn’t seem to be panning out, except perhaps in a very few children; that is, until a new study provided the impetus to dig up its corpse for the first time, and Hyman’s got the shovel:

Many studies have illuminated the causes and possible treatments for autism, but mainstream physicians or scientists ignore most of this data. This new study, breaks new ground because it was published in one of the world’s major medical journals.

In it researchers from UC Davis examined children two to five years of age from the Childhood Autism Risk From Genes and Environment (CHARGE) study in California — a population-based, case-control investigation with confirmed autism cases and age-matched, genetically unrelated, typically developing controls, that was launched in 2003 and is still ongoing. What they discovered was the aforementioned mitochondrial dysfunction that lead to problems with energy. Interestingly, these abnormalities were not found in neurons on a brain biopsy but from examining white blood cells called lymphocytes. This means the energy deficit was a systemic problem — not one residing solely in the brain.

This study forces the question: How do children acquire energy deficits that affect their whole system, not just the brain?

Don’t you just love the mavericky-ness of it all. Damn those short-sighted conventional doctors! They just can’t see what Hyman can see, because, well, they’re so…cautious! I mean, think of it. Here we have a pilot study of 20 children, ten autistic children and ten neurotypical children, by investigators at the MIND Institute. This was an observational study using data collected from the Risk From Genes and Environment study in California, which is a population-based, case-control investigation that includes confirmed autism cases and age-matched, genetically unrelated, typically developing controls children. The study began in 2003 and is still ongoing. Basically Giulivi et al recruited their subjects as follows:

For this study, we selected 10 individuals who met criteria for full syndrome autism on both the ADI-R and ADOS and 10 typically developing control children. Children were recruited consecutively and examined during the time windows when our laboratory staff was available to conduct assays of mitochondrial function; this was necessary to ensure fresh biological specimens. Scheduling of examinations in the clinic is essentially random, depending only on a match between the parent’s availability and a clinic slot, with all children being seen by clinical staff having identical expertise. Because ASD represents a fairly diverse phenotype, we studied children meeting criteria for full syndrome autism and neurotypically developing children (controls) without a clinical diagnosis of full syndrome autism, ASD, or developmental delays.

So what we have here is clearly a very small study intended as a pilot study. It’s not prospective, and it’s not randomized. Although case-control studies can identify risk factors for various conditions, selecting a tiny number of children out of a large case-control study can only provide very preliminary results. That doesn’t mean that it’s not worth doing. Such studies can be useful in that they can generate hypotheses that can be tested later in larger studies. However, any results from such a study are highly provisional, very likely wrong, and desperately need confirmation from a more rigorously designed study before one can have any confidence in them.

That being said and reemphasized, what did the investigators find? Basically, they drew blood from these children and meaured mitochondrial-dependent oxygen consumption, mitochondrial DNA copy number and deletions, and mitochondrial rate of hydrogen peroxide production, and plasma lactate and pyruvate, the latter three all surrogates that can be used to estimate mitochondrial activity. The results indicated that mitochondrial oxygen-dependent oxygen consumption was impaired in the lymphocytes from children with autism when compared with those from neurotypical children. In addition, when all the results were taken into account, children with autism were more likely to have mitochondrial dysfunction and/or either overreplication or deletions in mitochondrial DNA. Basically, this study suggests that mitochondrial disorders might be relatively prevalent in children with autism, although the study does have a number of limitations, described by the authors themselves:

First, the number of individuals in which mitochondrial activities were assessed was relatively small, although the sample size (based on statistical power for discovery of effects) was adequate. Nevertheless, caution should be exercised with regard to the generalization of findings in a larger population. Second, the possibility of type I errors should be considered. Of the analytes reported in Table 2, 8 of 10 participants were significantly outside the 99% CI of the mean for controls for NADH oxidase, as were 8 of 10 for succinate oxidase, 6 of 8 for PDHC activity, 6 of 10 for adenosine triphosphatase, and 4 of 10 for cytochrome c oxidase. Such findings are highly unlikely to occur by chance alone, although the interpretation of findings with both higher and lower activities is more complex than when values are consistently in one direction. Similarly, for the mtDNA analyses, 5 of 10 participants showed significantly higher copy numbers than controls, although the ratio of CYTB to ND1 was significantly reduced in 2 of 10 participants. Ten group comparisons were made in this study; of these comparisons, 6 were significant at the α level of .05 and 2 were significant at the α level of .005 (ie, using the conservative Bonferroni correction).

Translation: This may be a false positive, due to multiple comparisons and numbers in the autistic children both higher and lower. As I pointed out before, this is a pilot study. It’s impossible to conclude much from it. Not that that stopped Age of Autism and others in the anti-vaccine movement from going wild on it. It certainly doesn’t stop Mark Hyman from mixing these results with his Ultrawellness ultra-violence to science and proclaiming:

The causes of mitochondrial dysfunction are well known, specifically as it relates to metabolism and the brain, and I have documented them in my books “UtraMetabolism” and “The UltraMind Solution.” They include environmental toxins (iv) — mercury, lead and persistent organic pollutants(v) — latent infections, gluten and allergens (which trigger inflammation) sugar and processed foods,(vi) a nutrient-depleted diet(vii) and nutritional deficiencies.(viii) These are all potentially treatable and reversible causes of mitochondrial dysfunction that have been clearly documented.

Uh, no. they haven’t been “clearly documented,” at least not directly in the peer-reviewed scientific literature, although woo-meisters like Mark Hyman are very good at torturing scientific results like the results of the current study into seeming to support their idea that their woo can “recover” autistic children or even cure autism. That’s exactly what Hyman does as he describes an anecdote about a child named Jackson, a child with autism, whom Hyman claims he “recovered”:

I found all these problems in Jackson, and over a period of two years we slowly unraveled and treated the underlying causes of his energy loss which included gut inflammation, mercury, and nutrient deficiencies. Over time, the tests for his mitochondrial function and oxidative stress (as well as levels of inflammation and nutrient status) all normalized. When they became normal, so did Jackson. He went from full-blown regressive autism to a normal, bright beautiful six-year-old boy.

Naturally, there’s a video:

Once again, as has been emphasized here and elswehere time and time again. Autism is not a condition of developmental stasis. It’s a condition of developmental delay. Autistic children can and do develop, sometimes dramatically. Some of them develop to the point where they no longer meet the criteria for autism spectrum disorder. That’s why testimonials like that of Jackson can appear on the surface to be so compelling. The unspoken underlying assumption behind Jackson’s testimonial is that, without all the “Ultrawellness” voodoo that Hyman do so well, Jackson would have stayed nonverbal, as he was at 22 months. In addition, like their neurotypical counterparts, autistic children often develop in spurts, with periods of rapid change alternating with periods of slower or even imperceptible change. Hyman states in his testimonial about Jackson that he worked on him for over two years. How do we know that Hyman’s various “biomedical” interventions had anything to do with Jackson’s improvement? We don’t.

That’s the reason that randomized clinical trials are so critical. One story of improvement from a condition characterized by a highly variable course and a subset of children who develop to the point where they lose their diagnosis means very little. To try to account for this and determine whether any intervention is actually doing something requires a randomized, double-blind clinical trial. In fact, figuring out what treatments work in autism is damned hard even with randomized clinical trials. Trying to do it in retrospective studies or nonrandomized studies is damned near impossible. Trying to draw conclusions from single patients like Jackson that can be generalized comes close to futility. In the meantime, Hyman falls for anti-vaccine propaganda and blames vaccines for a significant number of cases of autism.

Based on this new study, I fully anticipate that there will be a new round of promotion of mitochondrial disorders as The One True Cause of autism, or at least the One True Reason why some children are allegedly susceptible to “vaccine injury” tha turns them autistic. Never mind that the investigators themselves have said quite emphatically that their study says nothing about vaccines and autism. Never mind all that. Dr. Hyman knows his clientele, and he knows that they like their woo to sound all science-y, preferably based on recent research. Because this study has managed to achieve a fairly high degree of publicity since it was released, it’s perfect for Hyman to use and abuse, and use it and abuse it he does.