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).
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 .
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:
- 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
- diabetes 2/insulin resistance
- high LDL cholesterol
- irregular menstruation
- 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.
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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.
I have definitely got HSD, but because the geneticist wouldn’t diagnose anything further because in his opinion the hEDS criteria are too ‘subjective’. He’s then referred me to UCLH for the hEDS diagnosis proper and support for my hypermobility. I’ve also just been referred for ASD testing. My other main diagnoses are fibromyalgia and ME/CFS. If the ASD tests come back positive I wouldn’t mind volunteering for the larger study. I have a Master’s degree myself, so I’m guessing I would come back high functioning.
I’m finding the links between EDS and ASD fascinating and I’m finally finding out a reason for being the way I am after all the years of just being weird and not knowing why.
Hi, I really hope UCLH are able to help you. If you get the hEDS diagnosis, I also recommend seeing if you can take part in the HEDGE study, which is the big genetics study going on now. There should be contacts at UCLH who can give you more information. Right now, our lab doesn’t have any long-distance studies going on at the moment (but I will definitely advertise here on the blog if we do). But UCLH should have good resources for hEDS and probably has other research studies going on you may want to participate in. 🙂 Do you know where you’re being sent for ASD assessment?
Reblogged this on a coherent heart.
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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.
Reblogged this on dyslexic annie's Blog.
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).
Best of luck, Miranda! 🙂 With those symptoms you can probably either expect the EDS diagnosis or Generalized Hypermobility Spectrum Disorder (G-HSD), which most in the patient community and some in the medical/research community consider on the same spectrum.
I figured it is probably a connective tissue disease because I also have severe plantar fasciitis, costochondritis, and degenerative disc disease that are all resistent to treatment and I know those themselves can be caused by connective tissue issues.
Yeah it sounds like it. Although hEDS has some quirky criteria that go beyond the joints, things like uterine prolapse, etc. Not everybody’s in agreement with the diagnostic cutoff but that may well change again over the next couple years.
I’ve had issues with a rectocele prolapse the past few years. I wonder if that is common.
Here’s the criteria list, which may be helpful to you. 🙂 https://ehlers-danlos.com/wp-content/uploads/hEDS-Dx-Criteria-checklist-1.pdf
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.
Yes, we’re definitely going to be looking at the Broader Autism Phenotype etc. in EDS in upcoming studies. 🙂
Reblogged this on The Artisanal, Cage-Free Human.
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]
Ah, my apologies! Happy to update the blog post with the citation. 🙂 Will update this by this evening. Am traveling and wifi has been iffy.
Thank you. I really appreciate it.
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I found your blog while searching for information on the connection between EDS and ASD. My fourteen-year-old daughter is in the process of being assessed for ASD (I’m 99% certain that the assessment will confirm my instincts). Recently, I’ve noticed that she has some intense stretch marks appearing in odd areas. She has gained a little weight due to her medication, but not enough to justify deep purple stretch marks at the backs of her knees and her lower back. She also has a vascular malformation in her right calf, falls over all the time, has had vocal/ palate issues, exotropia, ptosis and a whole host of other symptoms, both current and retrospective. I’ve long believed that an underlying syndrome connects many of these issues and EDS is becoming a strong candidate.
I am lucky enough to have private health-care, but would appreciate any guidance you can offer in investigating a diagnosis of EDS. My daughter has been through a lot and I would like to take as direct a route as possible. Thanks so much for connecting the dots (pun intended) when so many in the field seem to have symptom myopia.
Hi! Some of the things you’re describing do sound like possibly an underlying connective tissue disorder. Is your daughter also hypermobile? Usually the Beighton scoring system is used to diagnose generalized joint hypermobility. I recommend looking up videos on the Beighton. Also, if you want to seek an assessment, it may vary by your location but I would recommend a genetics center. I would also recommend you joint Facebook groups on EDS and asking specific questions there. The patient community had a real wealth of information and can offer a lot of practical advice in this process.
Hi. I’ve read your article and I am the proof of all that was said. I am 9/9 on the beighton scale. I asked for my adhd/autism to be assessed by my doctor. I was told I wasn’t ill enough. Doesn’t really matter. You know if you’re different. I have gerd/asthma. Adult acne. Arthritis in my right hand and a feeling of dislocation in my right shoulder. I suffer boughts of depression and have always struggled with my weight. If you wish to take your research further I would like to be involved. It would give us both answers I feel.
Hi, lexie. Thanks for the interest! Whenever I do online-based research, I generally post advertisements here on the blog, so definitely follow. 🙂
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