One in 88 children in the United States has an autism spectrum disorder (ASD). You’ve probably heard that statistic before. And if you think that autism isn’t your problem because you don’t have an autistic child you’re wrong. A Harvard study estimated that the societal cost of taking care of an autistic person over the course of his lifetime is at least $3.2 million per person. And that was back in 2006. Of course, how can we even think of money when so many people are suffering?
How did we get here? How will we fix this? We have a major crisis on our hands and while a handful of clever doctors are busy making inroads in the treatment of these children, government health agencies dither. Before I get into how MTHFR and autism are related, let’s take a look:
Parents of autistic children are savvy, well-informed and passionate advocates for their children and also likely to know more than I do about these issues. I have only put together this post because as our knowledge of genetics increases it has become apparent that MTHFR is tightly correlated with autism and that some of the other health issues that I’ve been covering on this blog play primary roles in the development of ASD. For those who are new to MTHFR or perhaps even to some of these emerging treatment and prevention strategies I hope to collect some of the current thinking on autism and especially to discuss the role that genetics plays. Like all of my “plague” posts, following the links will lead you to further resources and advice from practitioners. Those who are not dealing with autism may find some assistance for other chronic illnesses that follow a similar path and if you’ve been reading this blog already you will see some major overlaps with my post on gut health. Parents of children with attention deficit hyperactivity disorder (ADHD) may also learn a great deal.
Most autistic children have MTHFR gene mutations, in particular the 677CT or 677TT mutations or the compound heterozygous alleles 677CT and 1298AC. The linked study found only two per cent of children in the group had no MTHFR mutations. From a genetic standpoint, however, simply having the MTHFR gene mutation alone is not enough to cause the wide array of symptoms and conditions associated with autism. After all, autism/ASD is not really a disease. It is a condition featuring several varying symptoms that have simply been grouped into one diagnosis (and likely doing the patients a disservice in the process). The body’s reduced ability to detoxify properly due to impaired methylation (and transsulfuration) pathways is a large contributing factor to these symptoms. But it is not the sole cause.
Further high-risk autism genes are being discovered all the time and there are probably at least a thousand of them. Studies done in 2012 contributed more pieces to the genetic puzzle, finding a few new autism genes and suggesting that there are probably around 1,000 genes that confer a high risk for the condition. The year before that scientists found that a large number of these gene mutations were de novo, meaning that they were not inherited. And this implies that the environment is the cause of many (if not all) cases of autism. Most experts today are working on the notion of a ‘multi-hit’ model for autism with genetic predisposition and many different environmental factors combining to produce symptoms in autism/ASD patients.
So what are the environmental factors involved? There is a body of evidence suggesting that in perhaps one third of cases, the environmental issues begin in the womb. One Danish study pointed towards infections during pregnancy. Another found that if a mother had an inflammatory disease (rheumatoid arthritis, celiac disease), asthma or allergies, that the risk of autism in her child was increased dramatically. Anything that causes immune dysregulation in the mother can contribute, according to this New York Times article, which reviewed the studies. It begged the question, why are we so much more susceptible to inflammation today than in the past? A much more recent study found that “mothers of an ASD child were four times more likely to harbor anti-brain antibodies” and also had increased rates of autoimmune diseases like rheumatoid arthritis and systemic lupus erythematosus. This is not to say that the mothers are at fault – inflammatory conditions can be silent and infections occur randomly all the time. Another study found that serum folate receptor autoimmunity could be a cause of autism, leading to decreased methylfolate despite normal serum folate levels.
Factors like toxins are also at play, which may explain for other cases of autism not explained by autoimmune factors. Exposure to chemicals, either in utero or during the early months and years of life can contribute to autism. Dr. Ben Lynch discusses a theory regarding folic acid supplementation, particularly in children with MTHFR gene mutations, which is backed up by this study. Then there is the elephant in the room. Vaccinations, particularly given in the large number of doses at such a young age and so close together are blamed by many parents and practitioners for autism. Even if this is purely the nail in the coffin for children who are already struggling against multiple other causes for their illnesses, and not the cause of the autism itself, broad government-funded research is warranted on this issue to prevent needless additional harm to a vulnerable population. Finally, Dr Dietrich Klinghardt discusses two interesting toxins in the following presentation, finding a high prevalence of both Lyme disease and exposure to electromagnetic frequencies in utero among a majority of his autistic patients. This video has a lot of good information about autism and what children are presenting with.
With most recent studies finding that immune dysregulation and inflammation, oxidative stress, mitochondrial dysfunction and toxin exposures are interrelated with autism/ASD, the most knowledgeable practitioners and parents have partnered to improve symptoms for their patients and children. Food allergies are a huge contributor to symptoms so many parents are getting results with a diet that is free of gluten, casein, artificial additives and preservatives, sugar and high fructose corn syrup, dye and items discovered to be inflammatory on food allergy tests (I discussed most of these in my last post on gut issues). An organic, farm-to-table diet is also recommended along with detoxification of the home, which involves eliminating toxic cleaning products, personal care items and other harmful household products. Many people also have success with high-quality probiotics. Practitioners are using biomarker testing to diagnose and treat various aspects of the children’s illnesses. Treatment conditions have certainly improved for many of these children but there is still a long way to go.
I will leave you with some further resources and information that I have collected over the course of my research for this post:
Dr. Kendal Stewart podcasts
Dr. Kurt Woeller’s Autism Recovery Treatment Blog and Presentation
Environmental and Nutritional Strategies for Lowering the Risk of Autism by David Berger, MD,FAAP
Interactive Autism Network Research
My Autism Team
Talk About Curing Autism (TACA)
US Autism & Asperger Association
Do you have an autism resource or story you would like to share with other readers?
Pamela K Sorrentino
Please help me my doctors do not understand I am double heterogeneous MTHFR and I’ve had thyroid cancer with a total thyroidectomy my levels are constantly bouncing and I take level thyroxine I’m a VA patient and I need help
So much good information on your site…thank you! I am working my way through ALL of your posts. I am 57 and only recently found out that I have these MTHFR gene variants when my new GP did some extra testing. So many of the symptoms/issues you describe fit the bill for me.
Andrea Post author
Thanks so much for your comment, Sybil! I’m really happy that you found this site =)
Thank you for recommending my website. =-)
Andrea Post author
Thanks for creating such a great site, Kimberly! =)