Much has been written in the medical literature concerning the biochemical and potentially treatable nature of a group of conditions known as Autistic Spectrum Disorders (ASD). Then why are practicing physicians treating these children with medications rather than nutrients? The answer, of course, is that the disease model is being rapidly antiquated by a better knowledge of Mother Nature. This post discusses some of the important published information that indicates very strongly where the research should be.
Hopefully, the reader of this post will be aware that mitochondria are the organelles that produce cellular energy. It has become clear that what the authors describe as a large subgroup of individuals with ASD demonstrate abnormalities in mitochondrial function and suffer gastrointestinal symptoms. These authors state that the majority of children with ASD do not have a primary genetic mutation. This raises the possibility that their mitochondrial disorder is acquired, or results from a combination of genetic risk interacting with a wide range of environmental triggers. “Spotty”energy deficiency in the brain may be the bottom line. Cellular distribution of the deficiency might vary from individual to individual, thus explaining the variety of symptoms. These researchers also reviewed the evidence that enteric bacteria play a part in this disease. The microbiome is the term used to describe the full complement of bacteria that live in the human intestine and play a huge part in maintaining health. The microbiome and its connection with disease was recently reviewed on Hormones Matter.
ASD and Malnutrition
One hundred and five children with ASD and 495 typically developing children of 6 to 9 years were compared in Valencia, Spain. The affected children failed to meet dietary recommendations for thiamine, riboflavin, vitamin C, and calcium. It was recognized that cultural patterns and environment may influence food intake. The majority of parents reported some concern regarding the feeding behavior of their ASD children in India. Relative to controls, the affected children had significantly lower daily intake of potassium, copper and folate although they did not differ in their calorie intake. We have pointed out in these posts that a high intake of empty calories with a normal blood concentration of thiamine is the equivalent of a normal calorie intake with dietary thiamine deficiency.
Autism rates in the United States are increasing at a rate of 15% a year. A recent study established the autism rates for each of the 50 states and calculated the percentage of infants who participate in the Women, Infants and Children program (WIC). The states with the highest WIC participation had significantly lower autism rates. Infants who were solely breast-fed, however, had diets that contained less thiamine, riboflavin, and vitamin D than the minimal daily requirements. The results suggest that autism may be nutritionally related to vitamin deficiency. However, the question remains as to whether the malnutrition was the effect of poor eating behavior resulting from brain changes due to autism, a typical “chicken and egg argument”. Which is cause and which is result?
An 11-year-old boy with autism developed liver dysfunction and became less responsive. His diet for several years was self-limited exclusively to a single “fast food”. He improved rapidly with the administration of thiamine but developed epileptic fits two weeks later that required the administration of vitamin B6. It has long been recognized that pharmacological doses of vitamin B6 can be used in some cases of seizure disorder, requiring the physician to be alert to the possibility.
Genetic Factors, Nutrition, and Autism
To illustrate that nutritional effects can be linked with genetic risk, we reported a recovered alcoholic mother who had two children with ASD. All three subjects had evidence of autonomic dysfunction that improved with dietary restriction but quickly relapsed after ingestion of sugar to which they were clearly addicted. Improvements and relapses were marked by an intermittently normal and abnormal laboratory test for thiamine deficiency. A genetic relationship between sugar consumption and substance abuse, including alcohol, has been demonstrated. I came across several cases where an individual with sugar addiction had a family history of alcoholism. In one instance a boy had developed autonomic dysfunction (Postural orthostatic tachycardia syndrome, POTS) following a vaccination with Gardasil. His test for thiamine deficiency was strongly positive. His father was known to have a classic case of brain thiamine deficiency (Wernicke encephalopathy) and a family history of alcoholism on his side of the family. This case suggests that the boy had a genetic risk for alcoholism from his father and that sugar ingestion might have increased that risk, creating a marginal, possibly mildly symptomatic or asymptomatic, state of thiamine deficiency before he received the vaccination. The question remains therefore whether his succumbing to POTS demanded a combination of all three factors, genetic risk, asymptomatic marginal thiamine deficiency with symptomatic precipitation by the “stress” imposed by the vaccination.
The published research suggests that the primary cause of autism (and many other brain diseases) is an underlying defect in the energy requirement for the brain. Although we do not claim that thiamine deficiency is the only cause of this disease, it is strongly suspected that the cause in common is anything that interferes with energy metabolism, an idea that has already been published. Since thiamine deficiency appeared to be a common cause of mitochondrial dysfunction, we reviewed our medical records from ASD children that we had treated. Besides blood tests revealing thiamine deficiency, there was evidence of traces of heavy metal accumulation from hair analysis, suggesting that some children with ASD may have particular trouble excreting these heavy metals.
Genetic studies have not revealed dominant genetic errors common to all cases of ASD, although it is assumed to be a complex disorder due to mutations in hundreds of common variants. Insight has been published, offering evidence that perhaps many of these neurologically afflicted children could be successfully treated with micronutrients. Evidence has been published that, in infantile autism, the areas of brain damage that occur are the same as those resulting from alcohol abuse, well known to be associated with thiamine deficiency. It is of particular interest that concentrations in blood testing of inactive thiamine (thiamine and its monophosphate) were normal whereas the concentrations of active thiamine (thiamine pyrophosphate) in autistic children were significantly decreased.
Many people (including physicians) are not aware that thiamine ingested from the diet does not have any action in the body until it is “activated” (converted to its phosphate form). Failure in the body to activate it is of course equivalent to being diet deficient in the original vitamin. In 2002, I published a paper reporting that I had treated 10 children with ASD using a derivative of thiamine, now available as Lipothiamine. Although eight of 10 children had marked clinical improvement, it was only a pilot study to assess whether this substance had any value in treating this disease. I had intended to set up a major study in collusion with a number of university scientists but the particular circumstances we required were not permitted by the FDA and we were unable to go ahead. Two recent publications have provided further details concerning the role of thiamine in health and disease (Lonsdale, Marrs 2017. Lonsdale, 2018)
It seems to be clear that ASD is a group of disorders with overlapping symptoms represented by a mixture of genetic risk, response to the stresses of life, and poor nutrition. The symptomology may come from genetic risk alone, but it is argued that in most cases it is a variable mixture of all three factors.
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