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 [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.