Autism Spectrum Disorder (ASD) and Testing

Vitamin B12, B6 and folic acid play important roles in the development, maintenance and function of the brain, and unsurprisingly, there has been intense research on elucidating the role of B vitamin deficiency in psychiatric and neurologic diseases. Vitamin B9 (folic acid or folate), B6 (pyridoxine and related vitamers) and B12 (cobalamin) play vital roles in what is called methyl group donation, a chemical process, that allows for the synthesis of proteins, lipids (fats) neurotransmitters (serotonin, dopamine) and hormones (stress hormones i.e. cortisol). In our body cells, vitamin B12, and folic acid are part of a process known as methionine synthase (MS) complex, which assists in reducing the amino acid homocysteine to methionine. Recent findings have identified that if homocysteine is unable to reduce to methionine, disorders of the heart, cognition (Alzheimer's Disease, Dementia) and Mood (Depression, Bipolar, Schizophrenia, Autism) can present.

B Vitamins and Autism:

Folic acid supplementation has been linked to lower incidence of autism in a cohort of over 85,000 children. B-vitamin related genes (i.e. MTHFR - methyltetrahydrofolate reductase) have also been analysed in subjects with autism or autism spectrum behaviours. In autistic disorder and pervasive development disorder (PDD) groups, plasma (blood) levels of the amino acids methionine and cysteine and the antioxidant, glutathione, were found to be reduced, while plasma homocysteine, vitamin B12 and folate were found to be in normal range. The results of a recent MTHFR, analysis showed a trend of the MTHFR allele (variation) (C677T) as slightly more prevalent in children diagnosed with autism. However, it has been demonstrated that the following four behaviours are positively associated with the gene MTHFRC677T: Poor direct gaze, current complex body movements, a history of self-injurious behaviour, and current over-activity (hyperactivity). So what does this mean? The findings suggest that B-vitamins-related genes can play a meaningful role for individuals diagnosed with autism. That if a child is diagnosed with autism, and matches for a positive mutation to the gene MTHFR C677T, that the child can benefit from supplementation with the methyl form of folic acid, L-5-MTHF, rather than a folic acid or folate. For this reason, there is value in assessment of the MTHFR gene for individuals diagnosed with autism.

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