Our Recent Study on the Overlap between Autism and Ehlers-Danlos Syndrome/Hypermobility Spectrum Disorders

Although much of my research efforts to date have focused on the genetics of autism, over the last year or so I’ve turned a significant part of my attention to a particular group of connective tissue disorders (CTD) and their overlap with the autism spectrum. The CTDs I’m referring to are known as Ehlers-Danlos Syndrome (EDS) and the closely-related Hypermobility Spectrum Disorders (HSD).

13095931_1097015973684712_4640883979848648041_n

To be frank, much of my interest in this area has stemmed from my own experience and recent diagnosis with an HSD, which has put me in contact with a number of fantastic online support communities on Facebook for EDS/HSD and its comorbid issues like postural orthostatic tachycardia syndrome (POTS) and mast cell activation syndrome (MCAS). In coming to know these communities and learning from their vast stores of knowledge, I also began to notice that there was a lot of talk about autism on these sites. And thus my interest in the etiological overlap between autism and EDS/HSD was born.

This weekend, the first of our autism/EDS survey studies was published, with another much larger survey study soon to come this summer (we’ve got some fantastic results!) and a clinical study beginning next month [1].

The current investigation looked at immune and hormonal symptoms, comparing women with autism with and without generalized joint hypermobility (GJH). All autistic women with GJH reported either an EDS or joint hypermobility syndrome (JHS) diagnosis.

We found that autistic women with GJH reported more immune and hormonal symptoms than their non-GJH counterparts. What’s more, the number of immune and hormone symptoms shared a strong relationship with one another, such that women who reported high numbers of immune symptoms were more likely to report more hormone symptoms as well.

The immune symptoms we surveyed were:

  • allergies
  • asthma
  • autoimmunity
  • chronic ear infections
  • chronic rhinitis or sinusitis
  • severe reactions to medications
  • severe reactions to environmental chemicals (e.g., cleaning fluids, perfumes)

Meanwhile, the hormone-related symptoms we surveyed:

  • adult acne
  • amenorrhea
  • diabetes 2/insulin resistance
  • dysmenorrhea
  • endometriosis
  • high LDL cholesterol
  • hirsutism
  • hypertension
  • infertility
  • irregular menstruation
  • overweight/obesity
  • polycystic ovary syndrome (PCOS)
  • premenstrual dysphoric disorder (PMDD)
  • severe teen acne
  • uterine fibroids

Of the immune symptoms, autoimmune disorders were particularly overrepresented in the autism/GJH group. In addition, dysmenorrhea, endometriosis, and severe teen acne were likewise the hormonal symptoms most overrepresented.

There has been a lot of interest in the immune system as an etiological factor in autism. Given the overlap between autism and EDS/HSD that we’re starting to notice, the high rates of immune disorders in autistic women with GJH may be highly significant. Our second larger survey study will expand on this topic this summer, as will our clinical study starting next month. More to come soon!

Note: Header image borrowed courtesy of Murray Meetze. You can find her blog and more information on her website, Uniquely Striped.

20 responses to “Our Recent Study on the Overlap between Autism and Ehlers-Danlos Syndrome/Hypermobility Spectrum Disorders

  1. Pingback: Ehlers Danlos Syndrome and autism | Cortical Chauvinism·

  2. This is great. Thank you!

    Have you looked at or seen a connection between Lyme Disease and/or Bartonella and all of this stuff? Because these things also come up frequently in discussions of Lyme Disease and its co-infections. But most people who have Lyme Disease don’t know it, because the main test for it misses most of the cases.

    There’s so much out there, but this article just touches on one small piece of it https://www.drtaniadempsey.com/single-post/Why-Bartonella-is-the-New-Lyme-Disease

    And the POTS/Lyme link https://myheart.net/pots-syndrome/lyme-disease/

    And you see the Ehlers-Danlos/POTS link more on the message boards/in blog posts, but it definitely seems to be there.

    • I haven’t looked at specific infections, although that may be something we can try to tease out in future. I’ve certainly heard a number of people with EDS and/or POTS talking about Lyme disease on the FB sites. Also in relation to MCAS as a precipitating factor. (Actually, I think I may’ve read more about it on the MCAS groups.) I think there’s definitely an overrepresentation of these types of precipitating factors in EDS/POTS/MCAS. For example, in our upcoming survey study, which will hopefully be published this summer, head injuries are definitely overrepresented in EDS.

  3. Pingback: Our Recent Study on the Overlap between Autism and Ehlers-Danlos Syndrome/Hypermobility Spectrum Disorders | Science Over a Cuppa – International Badass Activists·

  4. Reblogged this on A Thinking Patient and commented:
    Back in December 2016 I wrote here about my observation that PMDD seems to be a somewhat common comorbidity among autistic women. https://www.madinamerica.com/2016/12/pmdd-free/
    Critics railed at my observations, making accusations that I was promoting pseudoscience. I’ve been aware for some time that Ehlers-Danlos, POTS, and MCAS are also co-morbidites. I’m happy to see someone is quantifying this.

  5. I have high functioning autism and highly suspect I have EDS as well. In fact I am being tested for it soon. I know I test 8/9 on the Beighton score and have had horrible joint and surrounding tissue pain for many, many years. I always thought I just had “weak joints” that were prone to twist and turn too easily, but now I think I probably had EDS all along. I’ve had digestive issues my whole life too. Your list of symptoms above almost perfectly fits me too in many ways, especially the immune symptoms (I fit them all to a T).

  6. This is really fascinating and I have had been interested in the connection for some time. I have EDS (3) and come from an autism family. My son has a diagnosis. I suspect I am one of the many undiagnosed females. My father and brother are almost certainly on the spectrum but are probably undiagnosed. Can I therefore encourage you to include in your next survey undiagnosed relatives who identify high autistic traits and have a diagnosis of a connective tissue disorder? Good work. I look forward to the next study.

  7. Hi. When this post is shared on social media, the image you have utilized is my graphic that I created, but the credit is not visible when it is shared. I would appreciate if you would cite me in the post, given the citation for the graphic is not visible. [murraymeetze.com]

  8. Pingback: Takiwatanga – Monica Olivia·

Leave a Reply

Please log in using one of these methods to post your comment:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out /  Change )

Google+ photo

You are commenting using your Google+ account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s