It seems for years that I have had problems with tiredness, from the age of seventeen came the bad lower back pain followed later by the aching knees and variety of other bodily pains. You can live day-to-day with aches and pains that drag you down, but aren’t yet entirely debilitating enough to seek medical help for, you kind of think everyone probably has this issue. Of course I did intermittently go to the GP with inexplicable tiredness and exhaustion over the years, sometimes blood tests were done, but they always came back with nothing of concern. It wasn’t until very recently I found out about a connective tissue disorder known as Ehlers Danlos Syndrome and began researching, that it all started to add up. I realised I had a huge host of the symptoms, one of which is many problems with the gastro-intestinal tract.
I knew that people with autism often have GI problems, scientists also know it, but no-one has been joining up the dots. Medicine and science often seem to identify symptoms and identify and treat them standalone, which of course never gets to the root of the problem, never finds out what is causing the symptoms, or doesn’t do so in a systemic way and match up seemingly disparate symptoms. Two days ago, after being yet again entirely failed by the NHS (rheumatology department failing to diagnose me, not to mention the arrogant GP who was dismissive and highly reluctant to refer me in the first place and ensured the rheumatologist treated me with the level of disrespect and dismissiveness many of us have become accustomed to with the NHS), I was privately diagnosed with Ehlers Danlos Syndrome. Before I received my diagnosis, I had researched the seemingly anecdotal connection between EDS and ASC. ‘There must be some research out there’, I thought. My youngest child was already diagnosed as hypermobile by our local OT and I can see clear signs of it in my oldest child, they are both on the autistic spectrum too, both conditions are genetic, so there had to be a connection. Sure enough, although the research seems to be still in its infancy, I found it:
1) “High-functioning autistic disorder with Ehlers-Danlos syndrome” http://onlinelibrary.wiley.com/doi/10.1111/j.1440-1819.2011.02262.x/full
2) “Autism and Ehlers Danlos Syndrome” http://www.pubfacts.com/detail/1537777/Autism-and-Ehlers-Danlos-syndrome (download full paper from that link)
…and no-one is bothering to properly join the dots.It’s high time that science caught up, if we understand connective tissue disorders we may get to understand autism better and perhaps, genes in common can be identified which could lead to understanding causation. Thought for the day:
“For every effect there is a root cause. Find and address the root cause rather than try to fix the effect, as there is no end to the latter.”
~ Celestine Chua
Edited 28.5.16 to add:
Two genes which may connect the two conditions are ADAMTS2 and TNXB. Seen on Pinterest –
Planet Autism Blog 
My little boy is 5 and has ASD, we finally got an OT appointment and the first thing she said is oh he definitely hypermobile, I suspected this as his sister is too and didn’t walk til 2.
His asd diagnosis just doesn’t seem to stick with me as he love being around others, doesn’t mind change, infact loves it and enjoys the buzz, he hassle sensory issues but is under sensitive so he has to touch everything!!
His OT said the reason he seeks movement all the time (as he is very hyperactive) in particular jumping and climbing is because he wants to ground himself as his muscles feel so lightweight, he gets a good feeling from the reaction his muscle give him when jumping. I was fascinated by this as I always thought it was an autistic trait.
He also can’t grip a pencil properly as his fingers bend back:-(
How on earth do you go about getting a diagnosis privately of EDS, I have only ever dealt with NHS and have no insurance??
Thanks for the post its a real eye opener
Hi Ruth, you might also find this blog post interesting: http://corticalchauvinism.com/2013/08/12/ehlers-danlos-syndrome-and-autism/
The thing about autism, as the saying goes “when you’ve met one person with autism, you’ve met one person with autism” and the often very stereotyped information available online and in books can dissuade people from thinking their child has it. Higher-functioning autistics don’t always present with the more classic traits in an obvious way. Some autistics are very extrovert and as your son is a sensory seeker (hyposensitive) this may make him even more so. Not all autistics are resistant to or upset by change. Or it can show in more subtle ways, like being upset or stressed if there is a change of plan, rather than being distressed by new experiences and places.
Regarding a private assessment for EDS, Professor Rodney Grahame in London can assess and diagnose, but is there any reason why you cannot pursue this on the NHS? A local rheumatology department should be able to diagnose connective tissue disorders but you may have to go to London on the NHS too as there is a lot of ignorance about EDS and how it affects the whole body, amongst NHS clinicians, so you might not find someone with the expertise locally.
Before pursuing it further, you might want to read this information about the difference between hypermobility and EDS:
Information from Ehlers Danlos Support UK about the difference between being hypermobile and having Ehlers Danlos syndrome (EDS):
“Not every hypermobile person has Hypermobility EDS (EDS-HT). Statistically speaking, around 10% of the population are hypermobile. Hypermobility is more common in women and children, as well as in people of Asian or Afro-Caribbean race. It also tends to decrease with age. Many hypermobile people find their flexibility advantageous, such as dancers and musicians, and have no pain or other problems associated with it. However, some hypermobile people develop chronic joint pain, subluxations and dislocations, which can be diagnosed as EDS-HT. The number of people with EDS-HT is thought to be significantly fewer than the number of people with generalised hypermobility.
It is not fully understood why some people with hypermobility go on to have further problems whereas others have no problems; until the genetic mutation of EDS-HT is identified, this question may not be answered. Hypermobility can become a problem when there starts to be damage caused by hyperextension of the joints and recurrent dislocations of joints. Some people with EDS-HT also find that they heal more slowly and are more likely to injure the same joint repeatedly as a result. There may be constant small damage caused by the hyperextension of the joints rather than any single acute injury, which over time can lead to disability.
Many people with EDS-HT have multi-systemic involvement including dysautonomia (PoTS), GI dysmotility, cardiac abnormalities, skin fragility, easy bruising and vision problems, suggesting that there is more going on than simple joint laxity. Some of these symptoms may be explained by hyper-extensibility of other tissues in the body, suggesting a congenital abnormality in the connective tissue.
The pain and injuries associated with EDS-HT can result in difficulty in everyday life, making many activities very difficult and painful. Chronic pain and resultant sleep disturbances can cause extreme tiredness and chronic fatigue, affecting life further. Some people with EDS-HT can become severely disabled by the condition, whereas others manage to live relatively normal lives. Again, the difference between individuals affected differently by EDS-HT is not understood, and does not appear to correlate with the degree of hypermobility.”
I have dove into the literature about mental illness and alcoholism after trying to figure out what is wrong with my family. I found myself on a video about aspergers in women. The similarities to myself are pretty astounding although I may be very high functioning.
The kicker, I also have EDS and was born with dislocated hips.
All these questions that I had are all connected here. Quite amazing. Best wishes to you and your family.
You might be interested in my other blog post on autistic females amber: https://planetautismblog.wordpress.com/2014/04/29/females-with-autism-the-tragedy-of-ignorance/
Best wishes to you and yours too.
I was sent here by a family member, as we’ve been researching what’s available online about both EDS and ASD. I don’t know if you’ve read this article: http://www.sciencedaily.com/releases/2014/10/141010154926.htm
They’ve done testing on mice that shows inflammation in the mother during pregnancy causes neural stem cell overgrowth in the fetus. It’s also been recorded that neural cell overgrowth occurs in utero with autistic children, and the overgrowth continues into infancy.
You noted the abnormalities in the superior temporal cortex in this post, but the interesting find to me is the relation in the two articles where they both cite that a greater volume amygdala is present, in both ASD and EDS. The superior frontal cortex (or gyrus) is known to be a significant pathway to the amygdala.
Now, I’m no expert, and this is just a theory, but it seems to me that the relationship between the negative superior frontal cortex, accompanied with the positive gray matter volume amygdala bilaterally, would indicate that there is a distinct physical link between Ehlers-Danlos Syndrome and Autism Spectrum Disorder.
Just a thought! This is obviously going to require some more research, but as a person who only recently discovered has Asperger’s (a bit later in life than usual), and subsequently is presenting with symptoms of complications caused by EDS (at the earliest it’s been shown to present), I’m very interested to see these two syndromes connected.
Thank you for all the research you’ve done yourself, and for taking the time to post this here.
Thanks for the link Sara, can’t remember if I have seen that one before, but I have seen several studies about the link between inflammation and autism and several about neural pruning in autism. As people with autism have areas of under-connectivity and areas of over-connectivity in the brain, I wouldn’t be at all surprised if inflammation is implicated in the deficit in neural pruning in the over-connected areas. I would be interested to know whether the brain somehow balances itself out by then under-connecting in the other areas or whether the under-pruning in the over-connected areas somehow drains activity/resources from those under-connected areas. You may also have read that the gut is like the second brain of the body, here is an interesting article about that:
http://www.dailymail.co.uk/health/article-3107269/Always-stressed-STOMACH-blame-Nutritionist-reveals-gut-second-brain-looking-change-life.html
“There is a massive and independent ‘second brain’ running the whole route of your digestive tract – from mouth to anus – called the enteric nervous system.
This has about 100 million cells, that’s one thousandth as many as there are neurons (nerve cells) found in the human brain and around the same as a cat’s brain.
This brain in your gut is capable of ’thinking‘, ’remembering‘ and ’learning‘.”
Consider that there are many gut issues in autistic people as well, including IBS and inflammatory gut conditions. Autism is known to have an inflammation connection: http://www.hopkinsmedicine.org/news/media/releases/brain_inflammation_a_hallmark_of_autism_large_scale_analysis_shows
Methylation is also implicated in both EDS and ASC and sometimes mast cell activation disorder is correlated with EDS, unsure at this stage if it is with ASC.
Some of this information needs adding to the original blog post I think!
You’re welcome, and thank you for creating this post in the first place!
I had heard there are gastrointestinal complications accompanying ASD, and recently learned of gastroparesis (and other dysautonomia symptoms) in EDS patients. Considering the link in brain formation between the two in the articles I posted, I wouldn’t be surprised if there are a lot of other commonalities.
The question I’m now pondering is whether EDS in both parents is the contributing factor to ASD in offspring. I spent the last couple days reading as much as I could and collecting a family history of EDS symptoms (as both my parents are NT). I found that EDS symptoms are present on both sides of my family, whereas ASD has only presented (so far, and to my knowledge) in my sister and I. It looks like my paternal and maternal grandmothers had either a mast cell disorder or EDS, but my grandfathers didn’t. So, both of my parents exhibit symptoms of EDS, neither have ASD, and then you have my sister and I with both.
Obviously, that’s a loose theory based solely on my own family. Just another thought, really. I’d be interested to see if there are journals or articles of any research done on the correlation between the two.
Popped back to add a link to this blog I just read: http://corticalchauvinism.com/2013/08/12/ehlers-danlos-syndrome-and-autism/
In it, he postulates that Ehlers Danlos Syndrome causes syndromic autism. Unfortunately, he also states (as I did) that it deserves more research.
Yes I had reblogged that Cortical Chauvinism post here on 30.10.14.
I would say one family is way too miniscule to show any connection between two EDS parents and ASD children. I believe my mother had EDS but I didn’t see any signs in my dad. To my knowledge I am the only one of my siblings with EDS and I appear to be the only one with ASC, although I have a sibling with schizophrenia which is genetically related to ASC. It would be something they could include in research though to tease out what the connection is. On the EDS forum I belong to there are several EDS members with ASC or with ASC children or relatives so I suspect it is just that there is a connection, but not necessarily about both parents.
It’s very frustrating how slow researchers are to pick up what is clearly a very obvious connection, there is so little out there. There appears to be more on the connection between anxiety/psychiatric conditions with EDS than with ASC and EDS.
Hi I have 3 sisters, 2 daughters, 3 nieces, 2 nephews, all of us, along with my mother are hypermobile and have the symptoms of EDS hypermobility type, but are struggling to get diagnosed as a family. Also 2 of my sisters, my daughter, a niece and a nephew are diagnosed ASC (Aspergers). We also suspect my mother and my other daughter are on the spectrum. I truely believe that the two conditions are linked and I feel our family are proof of that. It’s very interesting to read other peoples thoughts on the subject, it’s good to know we are not alone.
If you are in the UK, you and affected relatives can either request a referral via your GP or if you have the funds, go privately to obtain diagnosis. Once you have the diagnosis any associated healthcare issues should be referred for. It is easy to get fobbed off by doctors and you do need to ask for an appropriate referral to someone with the expertise to assess and diagnose EDS. Good luck.
This is fascinating. I’ve recently been diagnosed with EDS (Hypermobility type) *and* discovered information about ASD that has led me to self-identify as ‘Aspie’ at the age of 41. I’d like a formal diagnosis. I took part in a research study which involved having an fMRI and took the opportunity to ask how my brain looked! There were no red flags but there were ‘a few structural things’. Unfortunately, because it wasn’t a diagnostic process, they couldn’t tell me any more but I am inclined to agree with your post.
You might want to compare your fMRI results (if you have access to them – although I know being part of a research exercise it’s not likely) with any available online to see if you can match your brain differences relating to Asperger’s. You might find some useful information here: http://www.autismresearchcentre.com/project_24_fmri here: http://www.medscape.com/viewarticle/733744 and here: https://www.google.co.uk/search?q=fmri+results+asperger%27s&source=lnms&tbm=isch&sa=X&ved=0CAcQ_AUoAWoVChMIz-686Zm_xwIVAoAaCh20dA_p
Forgot to say Sally, here is some information on assessment and diagnosis if you are in the UK: http://evolutian.wix.com/planetautism#!your-autism-rights/c1t44
We have 3 children with varying degrees of diagnosed autism and autistic traits and ‘connective tissue disorder’ (everything EDS but not hypermobile enough, beighton scores between 5 and 7). Two have structural brain anomalies, the other has sensorineural hearing loss – I feel absolutely sure everything is connected. We’ve been under genetics, but we’re too complex and the anomalies aren’t consistent between the children. Unfortunately, nobody in the NHS wants to look at a child as a bigger picture, let alone a whole family, it’s just individual problems in individual people.
Tracy if diagnosticians have told you EDS cannot be diagnosed because of Beighton scores that is factually incorrect. I only have Beighton of 3 but was diagnosed with EDS. The Beighton score has been stated by it’s author, Dr Beighton as only intended for assessing hypermobility on those particular body parts & was never intended as a diagnostic tool. It does not assess hypermobility in any joints or body parts outside of those listed within it. http://tinyurl.com/nr7dofs “The Beighton score was originally introduced for epidemiological studies involving the recognition of hypermobility in populations. For this task it was well suited, being easy & quick to perform even in large numbers of people. Unfortunately, it was seized on by clinicians for use as a diagnostic test for hypermobility, & hence for hypermobility syndrome (see below), a role for which it is not particularly well suited for two principal reasons.” Also there are several different types of EDS and they have varying levels of hypermobility, some may only be minor. When you say you’re too complex, are you saying you have been brushed off from having proper diagnoses of your difficulties? Yes, the NHS is like a sticking plaster, often not looking into the root causes and just dishing out medication etc. Sorry for the delay in replying, I didn’t get a notification of your comment.
such a relief to see somebody else writing about this. my husband has ehlers-danlos and I have Marfan syndrome; we both have Aspergers. like you, I don’t understand why more people haven’t connected the dots between connective tissue disorders and autism spectrum conditions. it seems so clear that they are related. please post more about this if you come across any more research or have any more insights!
Thank you for your comment Hilary. I certainly will.
marfan can cause autism also?
It’s definitely possible that the two conditions are linked. Whether one causes the other, is another issue that I can’t answer. A bit like chicken and egg. It may be the same set of genes that are involved. Much like up to 80% of autistics also have ADHD.
Interesting to say the least. My husband has Asperger’s Syndrome. I have Osteogenesis Imperfecta diagnosed as a toddler at my first of many fractures. I am also a ‘Bendy’ and a doctor checking me recently said I could definitely be classed as EDS too. And our younger daughter doesn’t have ASD but does have hEDS AND disabling CFS. Now wondering if her CFS is not “just” a result of life with EDS but actually due to neurological difference. Any thoughts anyone?
Chronic fatigue syndrome is a physical thing, if someone had neurological difference such as ADHD or ASD, there would be mental symptoms. There is something termed Aspie burnout, which I have an article about on this blog, which is a result of trying to be normal and fit in with living like everyone else and literally burning out. It can result in loss of function. But you would have noticed something in her behaviours if she was autistic. Having said that, females do not always present like males and if you were using your husband as a benchmark, the signs might not be so obvious. Look for the AQ10 test online and score her on it. If she scores 6 or over it’s work enquiring about an ASD assessment. If she is obsessive over anything, even if it’s normal things girls like, it could be a sign.
Hi Celestine
Thank you for sharing your story. It is of particular interest to me because I have been diagnosed with Aspergers Syndrome and Fibromyalgia and a bunch of other autonomic nervous system problems. None of the diagnoses seem to address all my issues and your description resonates with me.
How did you get your doctor to take your concerns seriously enough to order genetic testing? Here in Canada it seems that you have to have a magical potion to get any doctors to take any of my concerns seriously enough to warrant further investigations beyond some blood tests.
I look forward to your reply,
Daphne
Hi Daphne, I can’t see a Celestine that has replied on here (forgive me if I have missed it!). If you mean myself (OP) I was diagnosed by a rheumatologist. With hypermobility EDS (HEDS), there is no current genetic test and even for classical EDS (CEDS) they often won’t test as it only shows up about 50% of cases. Where you are more likely to get a genetic test is for the vascular type (VEDS) as it’s potentially immediately life-threatening and does show up on genetic tests. The NHS in the UK did not take me seriously, I saw a really dismissive and incompetent rheumatologist and it was a fight to get even that referral. I ended up having to go private to get a diagnosis, from a consultant rheumatologist. In the UK, they will only send people for genetic tests when there is a very strong clinical indication to do so. I was given a skin biopsy but because it didn’t show the supposed flower formation in the collagen they would not progress to a do a genetic test on the blood they nonetheless took!
I’ve been saying this for year. We have both autism and eds in our family.
I’ve been diagnosed with EDS-H. I have not yet been diagnosed with Asperger’s, but there’s no doubt in my mind that I’ve got it, and some of my kids are on the ASD spectrum. I’m about to take one of my sons and one of my daughters for evals.
I am not diagnosed with EDS or autism, but I have joint hypermobility and have been through the initial pre-screening for autism due to some suggestive personality quirks such as sensory sensitivity, etc. I stumbled across your article while researching the possible connections between my seemingly astronomically rare combination of unusual physical and mental oddities. I would love to discuss this in more depth with you if possible.
Hello Aaron, I will email you.
The information found here has been an eye opener. My Daughter has been through CAMHs and Adult mental health for the last seven years.. She was only diagnosed with ASD last year and has joint hyper mobility syndrome diagnosed by a rheumatologist following several appointments in physiotherapy which weren’t working. She is currently also on a cocktail of medicines for anxiety, psychosis and possibly has borderline personality disorder, the support for which is DBT but which she cannot get referred for because of the ASD. What really took me by surprise is the linking of her conditions and forgive me if I have missed something but also the link to inflammation during pregnancy?. Could this be the chickenpox I had for the first time about 4 months before she was born?.
There is a lot of information on the link between inflammation and autism out there. It’s probably one of those things that we will never know for sure because it was all going on inside the womb, whether it was mother’s illness or another environmental trigger/cause. You might find some useful articles and research here (a Google on inflammation and autism): https://www.google.co.uk/?gws_rd=ssl#q=inflammation+autism
Thank you for this. I think what has most upset me is that there was evidence there that they dismissed even when it had been a query in a level 4 admission. I felt sure this must have been some new research. I know I can’t change the last seven years. I am very bitter at the failings of the CAMHS service. The question of ASD was never even mentioned. I read a lot that this is being under diagnosed due to funding. I wouldn’t be surprised if that was actually the overriding factor.
CAMHS truly are appalling. Join a long line of failed families across the UK. They are useless generally but extra so when it comes to autism and that is both diagnostically and post-diagnostic support. They don’t have a clue. And it’s our children who suffer, by default of course, us as their parents. You will understand why I wrote this post: https://planetautismblog.wordpress.com/2014/06/23/camhs-and-autism-a-story-in-pictures/ (Share at will!)
I have just discovered this link and I’m putting pieces of jigsaw together daughter HF ASD hypermobile a few gut issues. Something else I’ve tried looking into and never found conclusive evidence is there a link between ASD and true knot in umbilical cord. I’m theorising here but a foetus with hyper mobility would be more likely to perform the in utero manoeuvres to make a knot? Only I know 2 cases ASD and true knot. Long shot!
Never heard of that Mandy. Interesting proposition. Although there are various types (and hence causes) of autism and not all are hypermobile. I wouldn’t imagine that the over 2% of population with autism would have had this knot. Something researchers might want to look into at some point though!
Hmm. I have second daughter with EDS, CFS, Fibromyalgia etc and Husband with late-diagnosed Aspergers, same daughter with some traits that seem on the spectrum, I have Osteogenesis Imperfecta, had one hypermobile grandma and one with Dowager’s hump and extraordinarily soft loose skin, and this daughter got her cord round her neck at some point which was found during delivery, also always seeks scarves etc, 26 yrs now
I just came across this entire website today. I find the connections of all these syndromes interesting, and I think my nursing career will end up going to research because of it, and my personal, limiting EDS struggle with poor work management. I’m so glad to see so much evidence based material. I see so many conversations with anecdotal things, which is a good start but I like blood and guts in the manner taking out the bias and explanation of variables. I’m in Canada, and there is not a lot of info on EDS here. The limited drs that even agree it might be what I have refer to NHS material, you guys have a lot of data. Doctor’s can just suck in general and get closed minded when they think they know something.. I work with students and I reminded them of this tunnel vision the other day!! I really wish your family all the best but would love to chat with you sometime!
Thanks for your message Dana. What a good idea to get into the research side in your work. There is an EDS support forum on https://www.inspire.com/ which I think is US based but has members from everywhere. There is a wealth of useful information to be gained on there as some of the members are incredibly knowledgeable and well-researched. Yes there is a lot of ignorance about EDS among doctors! All the best to you and yours.
So interesting. Have ED my self and and a daughtet with ED and autism
Who did you visit to get privately diagnosed my rheumatologist for my daughter says the don’t like to say it’s Ehlers Danlos in young children but my daughter is so ill and in so much pain has every symptom known and they now also say has autism I am really struggling to find a private doctor without a referral needed to get the genetic test done
Are you in the UK Carrie? It’s almost impossible to get a genetic test in the UK, and for hypermobility type they won’t do one as there is no smoking gun found yet for the genetics. Even for Classic EDS only 50% of people show up on genetic tests so they won’t always do them.
This is quite fascinating, because at last, there appears to be an association between autism and hyperlaxity of joints. As my daughter regressed into autism, in the setting of acute neuroborreliosis and a febrile reaction to the MMR given to her at 12 and
1/2 months of age, we saw her over a period of 6 months lose all previously acquired bilingual skills and some of her mother skills . As the regression progressed, her joints, which had been normal, became increasingly more loose. While having her hand held she would twist her shoulder joint up to 3 times while trying to escape, this without any apparent discumfort. I brought this to the attention of her many specialists who did not think there was any link between her joints’ excessive laxity, her Lyme disease and her autism. My daughter who is now 30 years old, continues to be flexible, however, as she reached the age of 20, it became less striking and was practically forgotten as new conditions, yet unexplained have emerged, until I came across several articles on the topic
Equally fascinating, is the possible link with chronic fatigue syndrome. My daughter has become exercise intolerant, condition she shares with her younger sister and her maternal aunt, my sister. All 3 began experiencing disabling fatigue in their twenties, and we believe that it is linked to the MTHFR mutations they share as their fatigue has lessened since they began treatment with Methylfolate. My daughter’s patience had improved making life much easier for all, her OCD tendencies have lessened, her vocabulary is expanding and she more readily uses her words, making herself be understood, which in turn means less frustration. She has only been on methylfolate for 10 months and more progress is to be expected.
Other medical conditions that have emerged the past 2 to 3 years and are being evaluated inclide:
– Chronic metabolic acidosis manifested by compensatory hyperventilation (KUSSMAUL BREATHING). My daughter has a chronically elevated lactic acid level and renal TUBULAR acidosis. She is treated with Sodium Bicarbonate which has reduced the severity of the acidosis, allowing her to breathe normally. Meanwhile the cause of the lactic acidosis remains a mystery, Testing for mitochondrial disorder had been unremarkable.
Thank you for sharing this! I found this site because I’m trying to figure out if I think I have ASD, and particularly what it looks like in women. This caught my attention because I also have EDS. The more I research, the more validation I feel in wondering if I have autism.