As more children are diagnosed with autism, researchers are examining a variety of potential “causes” including maternal hormonal disorders like polycystic ovary syndrome (PCOS).
One of the most debated autism theories may just be the “extreme male brain” theory. The theory suggests that autism may be an extreme manifestation of the male brain (Baron-Cohen, 2002). The theory remains controversial, receiving support and scoff from the scientific community. Whether the theory is accepted or not, it has raised many questions about exposure to prenatal sex steroid hormones, elevated maternal testosterone levels, and, most relevantly, the link between (maternal) hormonal disorders like polycystic ovary syndrome and autism.
Maternal hormonal disorder
For women contemplating pregnancy, the effect of prenatal hormones on a developing fetal brain may be of importance. Especially when some studies (Auyeung et al., 2013) suggest exposure to prenatal sex steroid hormones may predict autistic traits in children. These concerns are especially relevant for women with hormonal imbalances or hormonal disorders like polycystic ovary syndrome (PCOS).
What is PCOS?
PCOS is a health condition that affects a woman’s hormonal levels. The condition, which affects millions of women of reproductive age, is also sometimes referred to as Stein-Leventhal syndrome. It is characterized by the ovaries producing an abnormal amount of hormones related to male reproductive health and traits (referred to as androgens). The name polycystic ovarian syndrome originally came about to describe small cysts in the ovaries, but it’s now realised that polycystic ovaries actually have a high follicle number (with the follicles resembling cysts). Diagnosis usually comes from scans showing this high follicle count and from a hormonal blood test.
While the cause of the condition is hard to pin down, medical experts believe a combination of environmental and genetic factors may be responsible. The cause may be unclear but the symptoms are often overpowering and debilitating; some of these include:
- High testosterone levels
- Insulin resistance
- Weight gain
- Thinning hair (male pattern baldness)
- While hair thins on the head, excessive hair growth on face, chest, and back (hirsutism) is also common
- Infertility or trouble conceiving
- Other symptoms like acne, fatigue, low sex drive, and irregular periods are also often experienced
PCOS and autism
When looking at a link between autism and androgens, specifically elevated levels of testosterone, the science is confusing. Some research (Geier et al., 2012) mentions evidence—supported by multiple studies—of an association between hyperandrogenism and individuals diagnosed with autism. On the other hand, a contrasting study (Kung et al., 2016) suggests their findings augment prior research which found “no consistent relationship between early androgen exposure and autistic traits”.
PCOS is fundamentally a disorder of androgen excess or hyperandrogenism (Azziz et al., 2006). Women with PCOS have reason to be confused when looking at the contradicting research; they may wonder if there is a concrete association between hyperandrogenism and autism. More relevantly, is there scientific proof of a link between PCOS—a hormonal condition characterized by androgen excess including elevated testosterone levels—and autism?
Parents with autistic children know there are many conditions that co-occur with autism. They may want clarity about the increased prevalence of PCOS in the autistic population; they may also want more information about statistics suggesting PCOS is associated with a higher risk of having autistic children.
Research and the link between PCOS and autism
Going by the results of a UK based study (Cherskov et al., 2018) it seems that there is indeed an association between PCOS and autism. The study found austistic women in the UK have an almost two-fold increase in the risk for PCOS. The study also found that women with PCOS had a 35% greater chance of having firstborn children with autism.
The authors acknowledged certain limitations of the study (Cherskov et al., 2018) which should be taken into consideration when interpreting the research results. Due to missing information in the health records obtained from the Clinical Practice Research Datalink (CPRD) the researchers did not control for alcohol use, infertility treatments, marital status, and socioeconomic factors.
Such factors could influence results. Women may rightly wonder whether it is PCOS or the subsequent treatment for infertility that increases the odds of having an autistic child. Unfortunately asking this question may lead to further uncertainty as research seems to suggest a positive, but inconclusive link between certain fertility treatments and autism (Robinson et al., 2020).
Reading between the links
When summarizing current research, the evidence strongly suggests a link between PCOS and autism. Women with PCOS are more likely to have an autistic child, and women with PCOS are more likely to have autism spectrum disorder (Katsigianni et al., 2019). Further studies taking other factors like infertility treatments and paternal influence into consideration are urgently needed.
When looking at the research, it is also important to note that, while mention is made of links or the association between PCOS and autism, the literature does not speak of PCOS causing autism. Lastly, it’s vital to note the conclusion of the study (Cherskov et al., 2018) mentioned above. The authors emphasize that their study’s findings are suggestive of the fact that autism in children of women with PCOS is still very rare.
This kind of research is not intended as scaremongering for women with hormonal imbalances. Rather the studies are mostly undertaken to understand autism better. Furthermore, the results of these studies should provide guidance to the medical community for better clinical intervention for both PCOS and autism. Studies should be asking vital medical research questions about women’s hormonal health and the impact it has on pregnancy and the developing fetal brain.
Such goals, rather than stigmatization, should be the driving force behind autism causation research. These efforts should inform a better understanding of neurodiversity; the kind of understanding that shapes acceptance, education, and intervention to improve the quality of life of every individual on the spectrum.
References:
Auyeung, B., Lombardo, M. V., & Baron-Cohen, S. (2013). Prenatal and postnatal hormone effects on the human brain and cognition. Pflugers Archiv : European journal of physiology, 465(5), 557–571. https://doi.org/10.1007/s00424-013-1268-2.
Azziz, R., Carmina, E., Dewailly, D., Diamanti-Kandarakis, E., Escobar-Morreale, H. F., Futterweit, W., Janssen, O. E., Legro, R. S., Norman, R. J., Taylor, A. E., Witchel, S. F., & Androgen Excess Society (2006). Positions statement: criteria for defining polycystic ovary syndrome as a predominantly hyperandrogenic syndrome: an Androgen Excess Society guideline. The Journal of clinical endocrinology and metabolism, 91(11), 4237–4245. https://doi.org/10.1210/jc.2006-0178.
Baron-Cohen S. (2002). The extreme male brain theory of autism. Trends in cognitive sciences, 6(6), 248–254. https://doi.org/10.1016/s1364-6613(02)01904-6.
Cherskov, A., Pohl, A., Allison, C., Zhang, H., Payne, R. A., & Baron-Cohen, S. (2018). Polycystic ovary syndrome and autism: A test of the prenatal sex steroid theory. Translational psychiatry, 8(1), 136. https://doi.org/10.1038/s41398-018-0186-7.
Geier, D. A., Kern, J. K., King, P. G., Sykes, L. K., & Geier, M. R. (2012). An evaluation of the role and treatment of elevated male hormones in autism spectrum disorders. Acta neurobiologiae experimentalis, 72(1), 1–17.
Katsigianni, M., Karageorgiou, V., Lambrinoudaki, I., & Siristatidis, C. (2019). Maternal polycystic ovarian syndrome in autism spectrum disorder: a systematic review and meta-analysis. Molecular psychiatry, 24(12), 1787–1797. https://doi.org/10.1038/s41380-019-0398-0.
Kung, K. T., Spencer, D., Pasterski, V., Neufeld, S., Glover, V., O’Connor, T. G., Hindmarsh, P. C., Hughes, I. A., Acerini, C. L., & Hines, M. (2016). No relationship between prenatal androgen exposure and autistic traits: convergent evidence from studies of children with congenital adrenal hyperplasia and of amniotic testosterone concentrations in typically developing children. Journal of child psychology and psychiatry, and allied disciplines, 57(12), 1455–1462. https://doi.org/10.1111/jcpp.12602.
Robinson, S. L., Parikh, T., Lin, T., Bell, E. M., Heisler, E., Park, H., Kus, C., Stern, J. E., & Yeung, E. H. (2020). Infertility treatment and autism risk using the Modified Checklist for Autism in Toddlers (M-CHAT). Human reproduction (Oxford, England), 35(3), 684–693. https://doi.org/10.1093/humrep/dez298.
