Although the syndromes we now know as Ehlers-Danlos (EDS) were first described as far back as 1892, the number of available materials for patients and medical professionals is surprisingly few. Considering Hypermobile EDS (hEDS) and the closely-related Hypermobility Spectrum Disorders (HSD) probably comprise at least 1% of the general population, the dearth of resources is even more alarming. In addition, recent changes in nosology mean that our understanding of these syndromes is still fluctuating significantly– with the likelihood that definitions will continue to experience “growing pains” in years to come.
Claire Smith is the Publication Editor and Partnership Director at the Hypermobility Syndromes Association in the UK, as well as mother to a daughter with EDS and who herself has an HSD. She has written this phenomenal book, Understanding Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorder, which covers symptomology, diagnosis, and management extensively. It’s written in a reference manual format but in a friendly and easily accessible style. And even better, it’s written by a woman who has longtime firsthand experience with the challenges of hypermobility, the pain it often causes, and most of EDS’/HSD’s comorbid issues, like dysautonomia, mast cell activation syndrome (MCAS), and fibromyalgia. In short, it’s written by a zebra for zebras and for anyone who treats or cares for someone with the condition. It’s a book that patients and doctors alike should have on their bookshelves.
I have traditionally been an autism researcher. In full disclosure, I myself have somewhat recently been diagnosed with an HSD and for the past several years have been struggling with the pain and many of the comorbid complaints that come with this complicated condition. As I’ve continued to learn more from the phenomenal patient community available through resources like FaceBook, I’ve quickly learned that there are indeed links between EDS/HSD and autism, which have been understudied and which I am currently pursuing professionally.
Therefore, I also recommend this book to the autism community, particularly to females who are themselves on the spectrum or have a relative who is. You may find some of the associated challenges described in this book eerily familiar, such as a hypersensitive immune system or features of dysautonomia like gastrointestinal disorders, fatigue, and headaches. Likewise, you may find the suggestions for management of those symptoms equally enlightening.
This book is a thorough and excellent resource. For any novice zebra who’s wanting to learn more about her/his condition, how to go about seeking diagnosis, and how to manage her/his treatment regime, this book is a must have. And for zebras who are already old hat at this connective tissue disorder thing, it’s a great reference that may still teach you quite a few things you didn’t already know. And this is certainly a necessity for any physician who has any patients with EDS/HSD– regardless of whether s/he’s a general practitioner or specialist!
I’m interested in the links with autism, and also ADHD. Have diagnosed dysautonomia, have a joint hypermobility spectrum diagnosis that still needs to be updated to the post-2017 criteria, and have autism and others with hypermobility in the family. I wonder, too, if there are any links to epilepsy. That is also something in my family, though I dodged that bullet personally.
Not sure about epilepsy unfortunately. We’ve had difficulty recruiting enough participants with epilepsy with these other conditions (EDS/HSD, autism, etc.) to get a better handle on comorbidity rates. Right now epilepsy in EDS/HSD is ranging in between that of controls (no cases) and high-functioning autism (6%). But the numbers are still too small to get enough statistical power to know for sure. Those numbers are based off about 480 respondents but that’s still not a large enough data pool given the low epilepsy rates.
I realized above it sounded like *I* had ASD, when I meant to say that *both* it and hypermobility run in my family. I have diagnosed ADHD, and I am guardian of someone with a severe ASD spectrum diagnosis. That grammar ambiguity, though, does bring up the further question of where ADHD fits with the comorbidities. I didn’t take your survey because my relative is male, but if you have one for females with ADHD, I’d do it.
Ah I see. If your male relative is a 1st degree relative then you would have been placed in the “family members” subgroup for the survey. But definitely there’s plenty of overlap between many neurodevelopmental conditions and autism. They all kind of lie on the same spectrum, especially within individual families. That’s of course not to say that ALL forms of ADHD share an underlying cause with autism. But when ADHD and other neurodevelopmental conditions occur in autism families, that’s usually a good indicator they’re different sides to the same die, so to speak. In terms of severe autism though, that often may indicate that something in addition to family heredity has occurred; whether that’s an additional mutation event that’s made the autism propensity that much more severe, some kind of environmental influence such as a prenatal infection, or a combination of both. In general, the more severe the condition, the more severe (and rare) the cause. That’s often why families with only a single incidence of autism (simplex) are more likely to have rare mutations than families with multiple incidences, the latter being more “hereditary.” More often, simplex cases are due to a severe mutation in the germ cells that the mother/father don’t themselves have.
You can see evidence of ADHD and the various complications of hypermobility etc. as chronic illnesses in my family for generations. It’s so apparent once you think to look that it’s hard to believe I wasn’t diagnosed with either until adulthood, but my brother (who has the severe autism and epilepsy) is my only relative with an actual autism spectrum diagnosis at all, much less severe autism. We clearly genetically have ADHD, but not necessarily ASD. I’ve wondered what that means for us as “carriers” for ASD genes (or not) and whether ADHD “counted” for inheritance studies. My brother had enough complications from epilepsy and severe asthma in infancy that there definitely could be an epigenetic component. He’s unusual – he spoke early and seemed to be very precocious in his first year. Then, he faced multiple medical crises in his second year and regressed completely. I have heard tapes of him speaking at age twelve months that no doctor ever believed was even him because it was “impossible” to think someone with those early skills could end up so profoundly disabled. This is cool to learn – if you try and track down what epigenetic switch flipped to create my brother’s severe singleton autism case in a family full of folks with historically ADHD and other chronic illnesses only, let me know. 🙂
Interestingly, there’s indications that infants who eventually develop regressive autism often have enhanced abilities in certain basic areas (e.g., language) compared to typically developing controls. Even though the differences can be subtle, in this instance “ability” rather than “disability” can be see as a potential risk factor. The immune system may also play an important role in regression risk. People with EDS/HSD for instance often have a characteristic immune profile, one of oversensitivity (e.g., MCAS at the extreme end), autoimmunity, etc. This can run in families. So it’s possible your brother had a mild propensity for autism that, along with complicating medical issues, led to some additional brain damage that exaggerates the expression of the autism. When regression occurs, sometimes following an immune insult, important nerve fibers in the brain can be lost. If that occurs in some of the longer fibers, such as the corpus callosum that traverses the brain hemispheres, even after the acute reaction dies down those fibers can’t be regrown because that type of growth occurs only during a specific time window during early development. Smaller corpus callosum size is often associated with the social communication problems seen in autism, because it normally helps to coordinate and integrate all that complex social information. But in the case of autism, if those regions of the brain can’t communicate well with each other, then socialization can be markedly impaired. –Although it’s currently just a hunch, I suspect that regressive autism may be a bit more common in EDS/HSD families because of the immune vulnerability. Having an exaggerated immune response to an illness or even vaccination during the late infancy/toddlerhood time period can also significantly affect the brain, causing it to become “hyperexcitable” (certain immune factors associated with fever like IL-1 are known to stimulate neurons). This hyperexcitability effectively lowers the threshold for things like seizures and probably also for the development of autism symptoms.
P.S. – said male relative also has epilepsy and chronic migraines. I have the migraines, but have only ever had one seizure. If you ever do want someone with that family history to do more internet research surveys, I’m usually game.
Yes, I’m definitely hoping to do more within the next year or so. I usually post adverts for them on the blog, so if you’re following you can keep up. 🙂
I thought of you and your research the other day when I saw this video of a remarkable young dancer with ASD. https://www.youtube.com/watch?v=2wJ1K8v2ZDE&list=PLg2TAoHnx-ak0jqscNhYTMBby2m287f2C&index=16
On Sun, Feb 11, 2018 at 8:06 PM, Science Over a Cuppa wrote:
> Emily Casanova posted: ” Although the syndromes we now know as > Ehlers-Danlos (EDS) were first described as far back as 1892, the number of > available materials for patients and medical professionals is surprisingly > few. Considering Hypermobile EDS (hEDS) and the closely-related ” >
What a cool video! Really enjoyed it. 🙂
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thanks for the post 🙂
My pleasure! 🙂
Oh my goodness, I can’t believe that I have only just found your blog! This book has become our go to coffee table book – and I had planned on writing a review, but really can’t top yours! I have started to have a look around your site and as an ex nurse love the medical aspect to it. I have shared your link on my Pain Pals Blog reg feature “Monday Magic – Inspiring Blogs for You!” Claire x
Thanks very much! 🙂 I also really enjoyed the book. (Currently a collaborator of mine is borrowing it so he can bone up on EDS/HSD.) Love the ‘Pain Pals’ blog, have just followed it. Lots of good material!
Thanks for that Emily – real compliment coming from you x
I am a zebra with hEDS. I was just at the geneticist who confirmed my suspicion of having mitocondrial involvement. With the proper blood work I do have mitochondrial dysfunction. He stated many zebras do as well. There is much to be learned about mito dysfunction or disease and down the road with research they will know the extent of it with many conditions. My other family on my mothers side have many with symptoms associated with mito disease. They do not have EDS, All my nephews have some degree of aspergers and significant ADD. We all have mental conditions that are mentioned with mito disease. What do you know of this involvement?
I live in Canada and only looked at the US EDS society for info. I found out about this book after reading info from the UK EDS society. I am trying to find out how to order the book. Wish I knew about it long ago to help me in spreading EDS awareness among the medicals I’ve encountered. Non seem to bother with what I provide by the EDS society.
Hi, Kathy. Sorry for the delay in responding, I’ve been traveling. Regarding mitochondrial disorders: there’s really two types of conditions. The first kind is an actual dysfunction of the mitochondria, typically associated with some kind of mitochondrial mutation, and those tend to be more severe (e.g., mental retardation, other medical conditions etc.). Then there’s the much more common type of mitochondrial disorder that makes up the majority of cases and those are more a case of “dysregulation” than dysfunction. The mitochondria are intricately tied with many homeostatic functions of the cell. When the cell is experiencing stress, such as chronic inflammation, the mitochondria tend to have a harder time helping to maintain that homeostasis. At that point you can start having mitochondrial dysregulation and that’s when stuff can start showing up in bloodwork. That doesn’t necessarily mean that the original culprit is the mitochondria per se but simply that they are having a hard time maintaining proper function in a cellular environment that’s really stressed. Inflammation, mitochondrial dysfunction, etc. are all rife in autism. In addition, there is early work indicating that not only do certain neurodevelopmental conditions occur more often alongside EDS/HSD, but also in their families. The links between those conditions, aside from some inherent vulnerability poor collagen provides, lie within inflammatory disorders in particular. We’ll be having an article out hopefully in the next couple months reporting on some of those links and how maternal immune activation in EDS/HSD may be a risk factor for autism and EDS/HSD in the child.
With regards to ordering the book, you can order from here: https://www.redcliffhousepublications.co.uk/product-page/understanding-hypermobile-ehlers-danlos-syndrome-hypermobility-spectrum-disord
It’s a bit pricey (in USD it was about $50) and since they only print copies on demand it may take some weeks to get to you. But it’s definitely a great resource for any zebra family and well worth the investment. 🙂
Thank you for your prompt reply. Would you say hEDS is some inflammatory disorder? I’ve been avoiding antiinflam’s because I”ve been having prolo/prp to replace my 58 yr old faulty ligaments and tendons with new faulty ones on and off for about a year now. Can hardly wait to see the article. Love your blog!
I wouldn’t say it’s *strictly* an inflammatory disorder, however it does appear that things like faulty collagen can also affect how the immune system functions. On the other hand, our early work also suggests that immune dysregulation may worsen the phenotype. So that’s a yes-and-no. I would say it’s more of a secondary immune disorder, but that the collagen (or some other component of the extracellular matrix) is the primary cause. But it’s still too early to tell for certain. PS: Glad you like the blog! 🙂
Really interested in your blog. I’ve just found it.
I’ve been diagnosed with PVNH, a cortical malformation. HEDS, Epilepsy and probable autism.
I’ve been told epilepsy in EDS is more prevalent than generally, but mine is caused by the PVNH. Interesting about the mitochondria testing as well. My daughter had abnormal mito tests.
Thanks very much! If you haven’t already found it, there are also references in the literature about heterotopias being found in cases of EDS. It’s not exactly certain why that’s the case, but one possibility is that neural stem cells (known as radial glia) that underlie the developing cortex attach both their “feet” and “arms” to a basement membrane lining the ventricles below and the developing meninges (connective tissue) above within the brain. So perhaps deficits in extracellular matrix proteins like collagen could affect that relationship between the radial glia and the basement membrane/meninges, leading to misguided neurons (e.g., PVNH). It’s been shown that when radial glia are improperly attached to these substrates or detach too early, this often leads to heterotopias.
Jane..the international EDS society has lots of info available. I’ve not read that epilepsy is a comorbid condition with hEDS I’m not sure of the others. Did your daughters mito results indicate mito dysfunction or a type of mito disease?
Being autistic, I am very interested in the connections between ASD and EDS. I am going in for EDS testing myself in a couple months and am pretty positive I have hypermobile EDS, I worry I might have vascular EDS too, but I hope not since it is by far the most deadly of the EDS family.
Yes, hopefully it won’t be vEDS! It’s much more likely to be hEDS or some kind of Hypermobility Spectrum Disorder (HSD). hEDS/HSD can also have vascular issues, but they’re usually MUCH less severe than those seen in vEDS. People with vEDS also often have a characteristic facial appearance.