Disguised- Genes and Senses PMDD and Autism-Part 3

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 Disclaimer: I am not a medical professional; the information provided in the following post are my opinions based on medical research articles. They are not meant for diagnosis. It is indented to open up a dialogue about PMDD and Autism and how they affect Female Health

Tying Up Loose Ends

Here we are the last post in my Disguised Series, at least for now! If you have not read Part 1 and Part 2, I encourage you to do that now. In the last two posts, I have argued my position for my theory on PMDD and Autism. For those that have been keeping up with me, thank you, I am so appreciative of anyone that takes the time to read my Crazy Ideas! Now, let us jump right into the final post.

X-Men Factor

Is it in the family? That is the biggest debated question in both PMDD and Autism. In my opinion, based on the research I have done, I do indeed believe it is in the family. But, I can also agree that a small percentage of people may acquire PMDD or Autism due to environmental factors. Let’s say I won’t be giving you the definitive answer here.

Here is the thing, for me, it’s not so much the link between PMDD and Autism being hereditary that intrigues me. But, the connection to the MTHFR gene mutation in PMDD and Autism that sparks my interest. What I can tell you is that gene mutations are inherited from parents, so do what you will with that tidbit.

 What is the MTHFR Gene

The MTHFR (methylenetetrahydrofolate reductase) is a critical enzyme that regulates the metabolism of folate and Methionine. In other words, it tells our body how to make an enzyme to breakdown homocysteine, a common amino acid.

The MTHFR gene mutation occurs in about 30% to 40% of people in the United States. When a gene mutation appears in at least 1% of the population, it’s considered a gene variation. So if it is so common, why should we care? Great question!

According to an article by, Andrea Chisholm, M.D. for the IAPMD site, there is an 11% of the population that carries two copies of the C677T mutation(homozygous), putting them at a significant chance of having health problems.

Autism, PMDD, and The MTHFR


Have you ever heard of a Meta-Analysis? If you have not, a Meta-Analysis is a research article composed of several studies done on the same topic. The authors of a Meta-Analysis take all the report on a subject and establish a trend. I love Meta-Analysis since it’s like they have done all the work for me.

In a meta-analysis on Autism and the MTHFR gene, Pu, Shen, & Wu, (2013),  found enough evidence in the collective studies to confirm an association with MTHFR mutation and Autism. Here is precisely what they said:

“We confirmed that MTHFR C677T polymorphism was significantly associated with increased ASD risk and further revealed that the association was significant in all five comparisons, including allele frequency, heterozygote, homozygote, dominant model, and recessive model, in which the strongest association was showed in homozygote comparison.

Interestingly, they also found that the association was the strongest for mothers and children who possessed the MTHFR C677T variant genotypes.

If what Chisholm’s article on MTHFR and PMDD is correct, then the finding connecting the same gene to Autism is of importance in my theory. Especially since the meta-analysis mentions a “strong association” between mothers and children with the MTHFR C677T.


In her post, Chilsholm further discusses the possible association of the MTHFR gene to PMDD. How the mutation causes an abundance of homocysteine leading to failure of proper biochemical function in the body. Specifically, she speaks on Methionine and its role in making the amino acid S-adenosylmethionine or SAM-e.

SAM-e is a biochemical that is involved in the production and breakdown of the brain chemicals and neurotransmitters. An increase in homocysteine causes a decrease in the production and conversion of Methionine. In turn, it is affecting the production of SAM-e, which impacts the function of the brain and neurotransmitters. This one mutation imparts a whole biochemical cycle that is important to brain function, which could result in the psychological components of PMDD.

I do not see how this could be a coincidence, but again, I am no genetics specialist, and I am only going by the research.

She Just A Little Sensitive

One unknown sense is the Interoception System, the sense that gives us the ability to feel what is happening inside our bodies. Neurotypical Females would not have any extream fluctuation in their experience of the senses. For Neurodivergent Females, all the senses including then interoception system, would be prone to extremes.

It is the Interoception System that I believe is one of the components to PMDD in Autistic Females. Females that are Hypersensitive would experience a heightened sensation of the internal body’s functions. On the other hand, Hyporsensitive Females would lack sensitivity to internal body cues making them unaware of their bodies needs.

Interestingly there is evidence that the anterior insula-cingulate cortex system is implicated in the function of interoception system (Taylor, Seminowicz, & Davis, 2009). If you can recall from part 2, there is also evidence that PMDD and Autism have a connection to the anterior insula-cingulate system. Again another coincidence? Maybe!

Now let’s look further on how interoception and sensory processing connects Autism and PMDD.

Interoception, Autism, and PMDD


One of the traits of an autistic individual is Atypical Sensory Processing, it is one of the criteria for diagnosis in the DSM-5. Autistic individuals with atypical sensory processing, as mentioned above, present with hyperactivity or hypoactivity of all eight senses. Meaning things like smell, sight, touch, and so own are experienced at a heightened level or a dulled level.

In a study done on the Interoception System of autistic adults, Syu & Lin, (2018), noted the following; “Adults with ASD who have sensory avoiding or sensory sensitivity may feel overwhelmed by the sensory stimuli, resulting in aggressive or negative reactions.” (p2)

A couple studies (Steward et al.,2018; Obaydi & Puri, 2008) on Autism and Menstruation have outlined how an Autistic Female experience the menstrual cycle.

Stewards et al. (2018) reports the following impact “sensory hypersensitivity and difficulties with regulating emotions and behavior” have on an Autistic Female:

“overwhelmingly negative experiences, especially exaggerated sensory issues and intensified executive and emotion regulation problems, which had often-serious consequences, including “shutdown,” withdrawal and heightened anxiety and therefore reduced participation in work, social and community life”(pp.4291)

The study done by Obaydi & Puri,(2008) is one I discussed in Disguised-Could PMDD Be The Hidden Link To Autism In Females? Part 1. If you recall this study showed that 92% of the Autistic women presented with PMDD. Documented the following symptoms of PMDD in Autistic Females:

“The symptoms which showed a particularly marked increase in prevalence in the autistic group were: affective lability; anger or irritability; clumsiness; anxiety or tension; depressed mood; impairment of work performance, social activities or relationships; social withdrawal, isolation and decreased interest in usual activities; decreased concentration; temper tantrums; physical aggression; self harm; stereotypies or repetitive movements; destructive behaviour; hypersomnia; insomnia; a change in appetite or a specific food craving; and headache” (pp.270)


When females enter the Luteal Phase, which is when PMDD usually starts, estrogen levels drop, and progesterone starts to rise. Females with PMDD are more sensitive to this fluctuation versus a NeuroTypical Female. Several studies are connecting the natural cycle fluctuation changes in estrogen and progesterone levels to PMDD, (Hofmeister & Bodden, 2016).

Another study on pain during the luteal phase, done on Females with PMDD and NeuroTypical Females, researchers concluded that Females with PMDD have “phase-independent hyperalgesia” (Bartley et al., 2015). What is Hyperalgesia? According to my dictionary, it isabnormally heightened sensitivity” to pain.

When an undiagnosed female suffers from Hypersensitivity, then normal hormonal fluctuation would trigger PMDD, which would explain the studies on sensitivity to cyclical hormone fluctuation changes. Female that is Hyposensitive would not recognized sensations brought on from fluctuation. Leaving them unable to identify any emotional changes that occur during the luteal phase — resulting in anxiety, depression, and many other issues that can manifest as PMDD.


Could it be another coincidence? Maybe! But how many ‘coincidences’ do we need before we explore the possibility of a connection to PMDD and Autism in Females.

The fact is that the lack of adequate research on the Female body has left us trying to find answers on our own. Piecing together bits of information we collect along our journey for answers. The same goes for Autism research and understanding.

My hope with this three post is to challenge everyone to rethink their preconceived notions on both PMDD and Autism. To challenge the medical community and the doctors that keep ignoring the Female reproductive system. To give someone, anyone the power, the confidence to speak up and get answers on their own PMDD and Autism journey.

No one will know more about their bodies as you as a female do. If you for one second feel that these articles speak to you, I encourage you to reach out. Either message me or email me. But most importantly, I ask you to ADVOCATE for yourself with your health care provider and demand answers.


Ali, A., Waly, M. I., Al-Farsi, Y. M., Essa, M. M., Al-Sharbati, M. M., & Deth, R. C. (2011). Hyperhomocysteinemia among Omani autistic children: a case-control study. Acta Biochimica Polonica, 58(4). doi:10.18388/abp.2011_2223

Bartley, E. J., Palit, S., Kuhn, B. L., Kerr, K. L., Terry, E. L., DelVentura, J. L., & Rhudy, J. L. (2015). Nociceptive Processing in Women With Premenstrual Dysphoric Disorder (PMDD). The Clinical Journal of Pain, 31(4), 304-314. doi:10.1097/ajp.0000000000000112

Chilsholm,M.D., A. (2017, April 3). MTHFR Gene Mutation and The Potential Association With PMDD. Retrieved June 19, 2019, from https://iapmd.org/blog/2017/3/25/mthfr-and-pmdd

Halbreich, U. (2003). The etiology, biology, and evolving pathology of premenstrual syndromes. Psychoneuroendocrinology, 28, 55-99. doi:10.1016/s0306-4530(03)00097-0

Hofmeister, S., & Bodden, S. (2016). Premenstrual Syndrome and Premenstrual Dysphoric Disorder. Retrieved from http://www.aafp.org/afp/2016/0801/p236-s1.html

Obaydi, H., & Puri, B. (2008). Prevalence of Premenstrual Syndrome in Autism: A Prospective Observer-rated Study. Journal of International Medical Research, 36(2), 268-272. doi:10.1177/147323000803600208

Pu, D., Shen, Y., & Wu, J. (2013). Association between MTHFR Gene Polymorphisms and the Risk of Autism Spectrum Disorders: A Meta-Analysis. Autism Research, 6(5), 384-392. doi:10.1002/aur.1300

Steward, R., Crane, L., Mairi Roy, E., Remington, A., & Pellicano, E. (2018). “Life is Much More Difficult to Manage During Periods”: Autistic Experiences of Menstruation. Journal of Autism and Developmental Disorders, 48(12), 4287-4292. doi:10.1007/s10803-018-3664-0

Syu, Y., & Lin, L. (2018). Sensory Overresponsivity, Loneliness, and Anxiety in Taiwanese Adults with Autism Spectrum Disorder. Occupational Therapy International, 2018, 1-7. doi:10.1155/2018/9165978

Taylor, K. S., Seminowicz, D. A., & Davis, K. D. (2009). Two systems of resting state connectivity between the insula and cingulate cortex. Human Brain Mapping, 30(9), 2731-2745. doi:10.1002/hbm.20705

Your 8 Senses. (n.d.). Retrieved from https://www.spdstar.org/basic/your-8-senses

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