Both Ehlers Danlos syndrome and polycystic ovarian syndrome are both comorbidities with autism. What about the intersection of different comorbidities? There is plenty of research about what the likelihood in certain situations and certain conditions to have an autistic child but not enough on the intersection of different conditions and autism, especially when it comes to female bodied people.
PCOS and Autism
PolyCystic Ovarian Syndrome (PCOS) is the most common endocrine disorder or condition that affects female bodied people. It is also widely accepted as an intersex trait.
PCOS is a collection of signs and symptoms:
- ovaries with a collection of cysts
- Excessive testosterone (male hormone, created in the ovaries)
- Irregular periods
- Being overweight
- insulin resistence
- infertility
- acne that does not go away with age
- Hirituism (male pattern hair growth)
- loss of thinning of hair on head
There are plenty of studies on the prevalence of mothers who have PCOS having autistic babies but not enough studies on how many people have PCOS are also autistic. Autistic people who have PCOS are 35% more likely to have an autistic child.
What about the rate of having PCOS and being autistic? There are studies that look for autistic traits in people who have PCOS. The problem is, these studies try to prove that the exposure to testosterone is what makes a child autistic and that is why they are autistic. This theory was put forth by Simon Baron-Cohen. This theory has been disproven. But he found that people who had PCOS had a higher score on the autism diagnostic tools than people who did not have PCOS. The theory behind his study was flawed but the prevalence is still valid. His team evaluated 40 people with PCOS using the Autism Quotient. His sample were adults aged 18-40 who had a diagnosis of PCOS. His control group were 40 female bodied people without PCOS. There is a correlation between PCOS and autism.
Ehlers Danlos Syndrome and Autism
Ehlers Danlos syndrome is another common comorbidities of autism. This is a lesser known condition as it is considered “rare” as it is very under diagnosed and misdiagnosed. Ehlers Danlos Syndrome, or EDS is a connective tissue disorder. It is genetic and has 13 subtypes. It is diagnosed normally by a genticist. It affects the way the human body processes collagen. Due to that, hypermobility is the sign most practitioners look for. Be warned, a lot of practitioners don’t know what it is and often google it in front of the patients. In the most common type hypermobile EDS (hEDS) are evaluated by their medical history, genetic history and the Beighton mobility score. People who have EDS are in pain all the time. They can have flare ups where they experience more intense pain for a period if time spanning from days to months. It can be brought on by stress, an injury (dislocation, subluxation).
The symptoms of EDS are hypermobility (overly flexible joints), slow healing time and stretchy skin.
After a study of mothers having EDS, 20% of them wound up having autistic children. It is recognized in this study that autism is under diagnosed in female bodied people or misdiagnosed. It is believed there is a shared genetic component through the FMR1 gene. Research of this is in its infancy but there may be a link.
According to the Bieghton Medical School and Sussex Medical school, people who have EDS and hypermobility spectrum disorder (HSD) have more of a chance to be neurodivergent. Their study showed that more than half of their participants were neurodivergent. That included autism, ADHD and Tourette syndrome.
It took 54 years to receive my autistic and hypermobility EDS diagnoses, so it is really validating to realise that all my varied issues are real and linked up. That I wasn’t making up all my pain, both visible and invisible, I wasn’t being a hypochondriac and nor am I dim. It wasn’t my fault for not being strong and healthy or picking up ‘common-sense’ things that others expected me to do and the further trauma this caused.
I hope that this study and future developments will now help so many more people I support, both my age and, hopefully the younger generation, who will not only be believed but supportively managed and be given the opportunity to have a much more healthy and fulfilled life.
Jane Green, Chair of Sussex Ehlers Danlos Syndromes
“You can’t just ‘shrug off’ chronic pain; it can be devastating, affecting your ability to work, care for a family and live independently. The longer pain is left undiagnosed and untreated, the greater the risk to a person’s health and increasing chance of disability. “This work will ultimately help healthcare professionals to understand what causes pain alongside different conditions which many might not see as being connected, hopefully leading to quicker diagnoses, and ultimately better, more targeted treatments.”
It is ground-breaking research like this from Dr Eccles and her team that helps to dismantle the barriers to healthcare for people who might usually find it difficult to access. By learning how different conditions relate and breaking down the silos of treatment we can provide more holistic care to people who need it. Neurodiverse populations are far more likely to experience a mental health condition than the general population and the more we can facilitate treatment and provide personalised support the better. We were delighted to be co-funders of this study and congratulate the team at Sussex on their findings.”
Lea Milligan, CEO MQ Mental Health Research
Intersection of EDS and PCOS
In EDS facebook groups, it is often asked about a link between PCOS and EDS. There seems to be a lot of people who have both. Of course, that is not scientifically sound so, there needs to be reading of peer reviewed studies. According to a meta analysis (an analysis of many clinical studies) there was a prevalence of 5% of the collective samples of people with an EDS diagnosis have PCOS. This study did include people who were male bodied.
According to a systematic search of three databases (Medline, CINAHL, Embase) up until additions in January 2019. These were English language full text peer reviewed articles. These were studies that both worked with different subtypes and did not report a subtype. 36% of people in the combined studies reported gynological issues, including PCOS. The author did say that there needs to be more studies on this and they are absolutely right. There is not enough research on this.
Another study looked at the medical records at Boston Children’s Hospital. They obtained the medical records of patients that were diagnosed with EDS between October 1, 2019 and February 10, 2021. They chose 100 patient records at random. These records were screened for a retrospective review. After analyzing the results, PCOS was in the group of the most prominent condition that people who have EDS experience.
How does PCOS affect the symptoms of EDS and visa versa? This would be helpful information for a lot of people.
How Testosterone Effects Pain
People who have EDS experience pain all the time and often need pain management to function in every day life. When I was told that I would feel my EDS pain more intense once I went on a testosterone blocker, I was intrigued. It took about three weeks for me to feel this. Then of course I had to find out why.
There was a peer reviewed article that was published in the European Journal of Medical Genetics talking about the different effects different hormones and body functions have on the symptoms of PCOS.
One thing stood out. According to this peer reviewed article, testosterone has an effect on how people who have an abundance of it perceive pain. Testosterone makes people less sensitive to the sense of pain.
According to the Hypermobilities Syndrome Association, the reason for this is that testosterone has little effect on the collagen and contributes to muscle bulk around the joints. This is most likely helpful in the mediation of pain.
There was a scientific review on the effect of testosterone on pain related conditions. They look at the transgender community and how hormone replacement therapy mediates pain. There have been studies before that show testosterone is less receptive to pain and estrogen is more sensitive to it. This review has shown that transgender men receiving hormone therapy have had a decreased pain intensity after being on hormone replacement therapy for at least four weeks.
Could not find effects on pain due to a testosterone blocker in a peer reviewed article. Joint pain and fatigue is listed as a side effect of spirolactone, a testosterone blocker that is widely prescribed off label for PCOS. I did find anecdotal accounts of it being worse after being on a testosterone blocker but if there are studies out there on this, I will surely update. This does need to be studied. This type of research could help a lot of people.
Source:
https://www.sciencedirect.com/science/article/abs/pii/S1750946712000049
https://www.sciencedirect.com/science/article/pii/S294977442300821X
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7711487/
https://www.mayoclinic.org/diseases-conditions/pcos/symptoms-causes/syc-20353439
https://www.mayoclinic.org/diseases-conditions/ehlers-danlos-syndrome/symptoms-causes/syc-20362125
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6917879/
https://www.sciencedirect.com/science/article/abs/pii/S1769721218309364
https://www.hypermobility.org/hormones-and-hypermobility
Athnaiel O, Cantillo S, Paredes S, Knezevic NN. The Role of Sex Hormones in Pain-Related Conditions. Int J Mol Sci. 2023 Jan 18;24(3):1866. doi: 10.3390/ijms24031866. PMID: 36768188; PMCID: PMC9915903.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9915903/
Aviva Seigler 