Sunday, 27 November 2011

Joint hypermobility

Take a look at the picture in this post taken from this link describing joint hypermobility on the NHS Choices website. Notice the unusual orientation of the thumb in the picture, something that most of us would be unable to do without at least having a rather painful broken thumb. This is one example of joint hypermobility, where joints are able to stretch further than normal.

Source: NHS Choices website
I don't know about you but I had several contortionists in the making in my classes at school. Kids who were pretty well versed in showing off their hypermobile joints (often to the detriment of us not so talented children). Not surprisingly these were probably the same kids who easily perfected 'the caterpillar' and similar electric boogaloo moves whilst the rest of us ended up just doin' the slug.

It is probably not surprising that quite a few of the population possess at least one hypermobile joint party trick. Indeed joint laxity or double-jointedness, as it is also (rightly or wrongly) called, seems to be present in an estimated 10-20% of people, mostly without causing any problems. But that is not to say that such suppleness is not without cost in some cases, where joint hypermobility can be linked with pain and other symptoms in some cases to form joint hypermobility syndrome (JHS). Diagnosing JHS is a relatively straight-forward process given the availability of information such as the Brighton criteria although there is still some discussion on the recognition and acceptance of JHS.

Although perhaps an unusual relationship, it has long been known that patients with JHS also present with a variety of other symptoms not necessarily connected to musculoskeletal symptoms. This paper highlighted a range of symptoms stretching (pardon the wordplay) from cardio-respiratory to gastrointestinal (GI) to other effects like migraine and sleep disturbances. My eye was immediately drawn to the GI issues suggested to be associated with JHS primarily because JHS is a disorder of connective tissue. Under such a broad heading, some (like this paper) have suggested a possible link between JHS and functional bowel problems of unexplained origin. Moving further into the GI-JHS link, a recent paper also asked a few questions about screening for coeliac (celiac) disease in cases of JHS (linked also to Ehlers-Danlos syndrome).

For quite a few years now, there have been rumblings about a possible connection between joint hypermobility and some cases of autism; that is children and adults with autism who seem to be very, very supple. Without trying to make any judgments, UK readers might remember a very nimble young chap with autism who did very well on Britain's Got Talent (quite the photo I am sure you will agree).

Searching the published scientific literature all I have been able to find is the odd case study like this one suggestive of an 'association' in individual cases of rare genetic findings. I note however that joint hypermobility has not yet been explored in a more population-wide systematic way for autism spectrum conditions so reports remain anecdotal.

To finish, and keeping the breakdance theme alive, Run DMC reloaded.

8 comments:

  1. Hi, I have ehlers-danlos syndrome and actually joint hypermobility syndrome is a listed type of ehler-danlos, though most forms of ehlers danlos (and marfans) feature hypermobility. Also, kids in general are more hypermobile and can grow out of it, so assesment of all joints and investigation into other factors to know for sure (is the aorta and heart healthy? Are their scars papery? do they bruise easily and heal slowly? etc)often even children are not diagnosed dyspite hypermobility and family history of ehlers danlos simply because the doctors wait until the all-kids-are-bendy age has past, around puberty and after to make a definative diagnosis. Also, ehlers danlos and autism do seem to be linked, as with other conditions also, I am myself a combo of rare and yet related conditions, the connections of which are still wholly not understood. Hope this helped, thanks for blogging about us eds-ers, we rarely get a mention! :) x

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  2. Thanks for the comment Emma and the additional information.

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  3. Thank you for this read! My children have Ehlers-Danlos AND Autism Spectrum Disorders very interesting to consider the link. I do know many parents with EDS children that have been told they have ASD symptoms or vice versa with hypermobility and such.

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  4. Thanks Diane. Echoing the sentiments of the post, maybe it is time for some formal research looking at any connection between autism and hypermobility.

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  5. (10/03/12) And as if by magic: http://www.ncbi.nlm.nih.gov/pubmed/22401670

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  6. Thanks for this post and your more recent one on co-morbids. There is a lack of formal research looking at a connection between autism and hypermobility. Apparently one of the professors who is the leading expert in hypermobility (can't remember if it is Bird or Graham) has noted that many of his patients have both, but has said that there is a lack of money for this area of research.

    I suspect that some people end up with one or the other diagnosis depending on which symptoms are most difficult to live with. When my son was young it would have been ASD that we needed a diagnosis for but now that he is a teen it is his hypermobility that is most difficult for him to deal with so that is the formal diagnosis that he has.

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    1. Why are there no patient based charities for HMS /EDS and related conditions to raise the money needed for research ?

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  7. Many thanks for the comment Robinsons.

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