The Autism Debate: Functional Vs Traditional Medicine

The seasons are finally changing. In Austin, Texas, this week it has been 90% humidity with triple digits. When you go outside you feel physically effected almost immediately, and most of us say a little prayer that tomorrow might bring cooler weather. Its the end of August, 2024, and any relief from the insufferable heat is welcome. The seasons changing also mean I’ve been spending countless hours preparing to speak at medical conferences in the fall. While public speaking and teaching has become a big part of my career, I never reuse old power point presentations (even though I promise myself I will after the 40+ average hours it takes me to create one). While it would be easier for me, it would be unjust to my audience trying to learn. What does the current evidence tell us? Have we found anything new, anything to help our children grow, develop well, and give them more relief than what we currently know? Or is the standard of care still the same?

Let me back up. I am a doctor of nursing practice- that means my doctoral work at Johns Hopkins was learning to translate the evidence (with clinical problems) to improve patient outcomes. That gap in translation, from what we have learned in science, to how we implement it in practice, is around 17 years. For all of my families with children not growing well, not developing well, not thriving… this is too long. After all, we all know, the earlier the intervention, the better the outcomes.

The last published guideline on autism was in 2020 by the American Academy of Pediatrics. Here are some of the highlights:

•ASD is “highly heritable, but poorly understood”

•Complimentary therapies are unproven and not scientifically credible

•No evidence that a child with MTHFR will benefit from folate supplementation

•No conclusive evidence exists that dietary interventions and supplements are beneficial in autism

•“Potential environmental factors that may be related to increased reported prevalence of ASD is an area of active study that, as yet, is without firm conclusions”

•Early identification – robust evaluation methods exist

•Genetics- CMA, Fragile X, (Rett if female)- No other testing

•Treatment- Behavioral treatments (ABA)

•Watch for co-occurring common conditions- seizures, sleep disorders, GI conditions, PICA, obesity, feeding disorders, motor disorders/tics

•Treat aggression, ADHD, OCD, sleep disorders, (antipsychotics, stimulants, SSRIs, etc)

Two years later…. Another publication from the American Academy of Pediatrics:

“It is highly likely that the interplay of gene variants and environmental factors contribute to a substantial proportion of autism.”

2020 Guidelines- MTHFR gene dismissed completely, folate needs not recognized

2022 Report- Recognized MTHFR role in ASD and referenced 2013 meta-analysis (yes, 2013!), “MTHFR gene, which reduces the body’s ability to convert folate to its active form, contributes to higher rates of autism.”

2020 Guidelines- ”No evidence for routine testing of environmental toxins”

2022 Report- “We need robust regulatory action now to protect women and children from toxic chemicals.”

I honestly don’t know if I should cry (2020 guidelines) or celebrate (2022 report). While there have been no new published guidelines on the etiology, treatment, or prevention of autism, the 2022 report is the first sign I have ever seen published by a major allopathic institution (that many of our pediatricians strictly follow), that recognize that autism may be the result of our toxic environment, common gene variants play a role, and folate deficiency is a contributing factor. Wow.

The pathophysiology (medical reasons the brain has dysfunction) of autism is beyond the scope of this blog, however I can assure you, autism is medical, not just a behavioral condition that is “bad luck” somewhere along the way. At the core of it is inflammation, and the inflammation comes from our environment (toxins, foods, infections), and our bodies become overwhelmed with trying to regain homeostasis, and the result is dysfunction (poor myelination, poor pruning, glutamate excitotoxicity from microglial activation, folate autoimmunity, and so on).

The parents that apply functional medicine and clinical nutrition to help their children with developmental disorders often have to bite their lip, or feel they have to hide what supplements they have their children on from their primary care provider. Families often report to me, “I have just learned to close my mouth” because their neurologist or pediatrician has shamed them for trying to clean up their child's diet, giving them vitamins, or trying to support their detoxification. But maybe… maybe this is the beginning of something new? Maybe the overwhelming evidence that autism has root causes that must be addressed, prevented, and treated, is finally coming to light?

Parents arm yourself with a qualified healthcare provider and go hunting for inflammation! Arm yourselves with hope, and do what you can to mitigate the environmental influx of toxicity and inflammation all around your family. Don’t be a victim of circumstance, be become empowered to change what you can, and don’t ever… ever… lose hope.

With a full heart,

Dr. G

Dr. Emily Gutierrez, DNP, C-PNP, IFMCP, PMHS, CCN Doctor of Nurse Practice, Certified Pediatric Nurse Practitioner, Institute of Functional Medicine Certified Practitioner, Certified Primary Care Mental Health Specialist, and Certified Clinical Nutritionist

References:

Pediatrics (2020) 145 (1): e20193447.https://doi.org/10.1542/peds.2019-3447

https://publications.aap.org/pediatrics/article/145/1/e20193447/36917/Identification-Evaluation-and-Management-of?autologincheck=redirected

Pediatrics (2022) 149 (1): e2021053012.

https://doi.org/10.1542/peds.2021-053012

Pu, D., Shen, Y., & Wu, J. (2013). Association between MTHFR gene polymorphisms and the risk of autism Spectrum disorders: AM eta‐analysis. Autism Research, 6(5), 384-392.

Montanari M, Martella G, Bonsi P, Meringolo M. Autism Spectrum Disorder: Focus on Glutamatergic Neurotransmission. Int J Mol Sci. 2022 Mar 31;23(7):3861. doi: 10.3390/ijms23073861. PMID: 35409220; PMCID: PMC8998955.

Haroon, E., Miller, A. & Sanacora, G. Inflammation, Glutamate, and Glia: A Trio of Trouble in Mood Disorders. Neuropsychopharmacol 42, 193–215 (2017). https://doi.org/10.1038/npp.2016.199

Pangrazzi L, Balasco L, Bozzi Y. Oxidative Stress and Immune System Dysfunction in Autism Spectrum Disorders. International Journal of Molecular Sciences. 2020; 21(9):3293. https://doi.org/10.3390/ijms21093293

Liu, Y., Yang, Z., Du, Y., Shi, S., & Cheng, Y. (2021). Antioxidant interventions in autism spectrum disorders: A meta-analysis. Progress in Neuro-Psychopharmacology and Biological Psychiatry, 113.

Targeting Glia with N-Acetylcysteine Modulates Brain Glutamate and Behaviors Relevant to Neurodevelopmental Disorders in C57BL/6J Mice Durieux AMS, Fernandes C, Murphy D, et al. Front Behav Neurosci. 2015 10.3389/fnbeh.2015.00343

Frye RE, Rossignol DA, Scahill L, McDougle CJ, Huberman H, Quadros EV.

Treatment of Folate Metabolism Abnormalities in Autism Spectrum Disorder. Semin Pediatr Neurol. 2020;35:100835. doi:10.1016/j.spen.2020.100835