The Autism Gene: What Does It Mean for the Autistic Woman?

I came across this article on Shift Journal this past Friday, which discussed the recent results of a study conducted at George Washington University about the genetics of autism. The researchers in question found that one particular gene in question, retinoic acid-related orphan receptor-alpha (known as RORA for short) may be responsible for the appearance of autistic development and tendencies in a person’s brain and nervous system.

How the RORA Gene Works

How exactly does this work? This report by MSNBC of the researchers’ results explains it this way: during the gestation period of a human baby, there is both estrogen and testosterone present in the mother’s womb. Both of these hormones affect the expression of the RORA gene, each in its own way: estrogen helps promote the expression of the gene, while testosterone inhibits it.

Why is this significant? While more research on the function of the RORA gene is still needed, what researchers do know is that the RORA gene is responsible for promoting the expression of, or “turning on”, so many other genes. For example, as the MSNBC article quoting researcher Valerie Hu said, the RORA gene “has been shown to protect neurons against the effects of stress and inflammation — both of which are elevated in autism” (which in my mind seems to suggest that the “intense world” theory of autism is correct).

In other words, too much testosterone in your mother’s womb, as the study theorizes, may well be responsible for the development and expression of autistic traits in your brain.

What About the Autistic Woman?

This conclusion at first glance sounds rather simplistic, and I believe this bears more study and exploration. But some immediate questions came to my mind…and all of them related to the autistic or Asperger woman.

First, I wondered: how might these findings be relevant to autistic women? The MSNBC article framed the results in terms of higher rates of autism spectrum disorder in boys and cited the typical 4:1 ratio of autistic men to women (I believe that women are underdiagnosed anyway, but that’s a whole ‘nother subject) and suggested that estrogen may have some mitigating qualities in terms of the RORA gene for women. Given this, and assuming that the testosterone/estrogen balance is one of the primary factors responsible for the development of ASD, does this mean that autistic girls and women may have received too much testosterone or not enough estrogen in the womb?

Then I remembered a book I’d read a couple of years ago —Why Men Don’t Listen and Women Can’t Read Maps: How We’re Different and What To Do About It by Barbara and Allen Pease. One section in particular spoke to how sex hormones affect the brain development, or “wiring” if you will, in a developing fetus and drew on Dr. Gunther Dorner, who has done research in sex-related brain differences and sexual orientation.

How does this all work? According to Pease and Pease, the basic template for the human body is female – up until between the sixth to eighth week after conception. Dorner’s research showed male hormones are the key to changing that “template”: in fetuses which are genetic boys (XY), testosterone in particular is used in the developing body to form testes and to configure the brain for masculine traits and behaviors. In contrast, little to no male hormone is typically present with a genetically female fetus (XX) and thus the body forms female genitalia and the brain remains female according to the original template; estrogen facilitates the continuation and completion of the female brain wiring.

So what does this mean? As the Peases explain it, testosterone is first used for the development of the male genitalia and whatever remains is used for sex-linked brain development. If there is not enough testosterone, then the brain may not completely develop with male wiring – he will end up with typically female thinking patterns and abilities in varying degrees according to how much testosterone was lacking during development. Conversely, if a female fetus accidently receives too much testosterone, she may end up with some male brain wiring in varying degrees, again according to how much testosterone she received in the womb.

Gender Identity and the Autistic Woman

Following this line of thinking, one could conclude that autistic women may have received too much testosterone in the womb and might have developed more male-wired brains. This conclusion lines up with Simon Baron-Cohen’s ”extreme male brain” theory of autism. While I still need to research the ins and outs of his theory, I will continue following this logic for just a moment and ask the question: so what does this mean for autistic women and their sense of gender identity?

I have repeatedly encountered other autistic women who have reported that they do not feel like a typical girl or woman, or that they found themselves not exhibiting behaviors typically expected of a girl or woman. For example, in her list of female Aspergian traits, Rudy Simone mentions that Aspie women “may have androgynous traits despite an outwardly feminine appearance; thinks of herself as half-male, half-female (well-balanced anima/animus)”. And Liane Holliday Willey documents a little of this in her book, Pretending to Be Normal in the following passage:

”I designed myself for comfort and convenience, not trends. This drove my girlfriends beyond distraction. They were forever advising me to pay more attention to my appearance. They would take me into the bathroom to and give me hints on how to wear makeup and how to fix my hair. They would remind me how gross it was for me not to shave my legs or tuck my shirt in or wear the same outfit several times in one week.”

And this is true for me too. While I am biologically female, I have never felt at home in the world of women. I have trouble understanding and socializing with most neurotypical women, and I am not interested in the same things that they are: I’d rather talk about the Enneagram or philosophy than about the latest gossip in the mill. My sense of fashion and style has come from years of observation, developing my own color palettes (I find that black, purple, blue, red, gold, and silver are each to match with each other), finding comfortable fabrics and shoes, and making a lot of mistakes, and it did not come natural to me; you are looking at the girl who was more interested in Greek mythology and African-American poetry than fixing her hair, which used to drive the aunt who raised me to distraction. And as I have mentioned before, I have empathy but lack the ability sometimes to decode the signals of what people are feeling and what they might need. Truthfully, I do almost feel half-female, half-male as Simone described above – for example, I have a primary male alter-ego who finds himself as the speaker in about a good third of my poems.

Back to Brain Wiring

The Pease’s book discusses a great deal more about how gender affects brain wiring and breaks down specifics between typically male and female characteristics. I plan to address these differences in a later post, and examine whether autistic women exhibit more specific characteristics related to male-wired brains. At least right now, I am beginning to think that maybe there is a correlation between hormones, brain wiring, and autism. I think this needs more study, and it would be interesting to assess what kinds of gender-related brain wiring that autistic women exhibit.

So…what do you think? Is the conclusion too simplistic? Might there be a correlation between hormones, brain wiring, and autism? As an autistic woman, do you find yourself thinking and acting in ways that are either not typically feminine at all or even are more typically considered masculine? I would like to hear from you.

Until next time,