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Fontanelle paediatric education

25 EpisodesProduced by FontanelleWebsite

Welcome to Fontanelle, a paediatric educational podcast for trainees. I'm Caroline Storey, a paediatric trainee in Wessex, and I'll be joined by wise friends, learned colleagues and leading lights from around the region and beyond to explore common presentations, sticky situations, what's fresh and … read more

36:51

Hypermobility and EDS with Dr Alice Leahy

Many of us see children with joint pain, some of whom are incredibly bendy. But have they "got hypermobility" or even EDS? Join Dr Alice Leahy and Marisa McMillan in their wide ranging discussion about EDS, hypermobility syndrome, arthritis, factors affecting how people perceive pain, and possible reasons why EDS has become more prominent on social media recently.
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Pearls include:
The Beighton Score: not very useful in the local paediatric population and is not validated.
---- Ehlers Danlos Syndrome (EDS) is a collection of collagen disorders
13 subtyes of EDS, 12 of which have known genetic mutations and histopathological changes, the
13th - neither genetic nor histopathological changes, otherwise known as hypermobility EDS. ----The 3 types worth remembering are:
☆Vascular type EDS - very rare - usually present to genetics depts rather than to rheumatology department - FH vascular rupture, Distinctive facial characteristics.
☆☆Classical type EDS. Also rare. Extremely hypermobile. Excessively stretchy skin. Can pull skin out from forearm 6cm (upper range of normal 2cm)
Autosomal dominant. Often very bruised with plentiful scarring on body.
☆☆☆Hypermobility type EDS: Beighton score of >6 pre-pubescent children; >4 in pubescent children
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Joint pain is not a good indicator of inflammatory arthritis. ♡♡♡JIA usually presents with very little pain. Arthritis will present with joint swelling.
If arthritis is suspected, request an ultrasound. A normal USS will exclude inflammatory disease. Blood tests are not helpful in diagnosing arthritis - neither are X-rays.
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Useful Resources:
•••The 2017 international classification of the Ehlers–Danlos syndromes (Malfait et al)
https://doi.org/10.1002/ajmg.c.31552

••••The RCPCH position statement on establishing a correct diagnosis of Ehlers Danlos Syndrome hypermobility type (hEDS) in children and adolescents 
https://www.rcpch.ac.uk/resources/establishing-correct-diagnosis-ehlers-danlos-syndrome-hypermobility-type-heds-children#footnote5_xb0pjtb
•••Head First by Alistair Santhouse Head First: A Psychiatrist's Stories of Mind and Body https://www.amazon.co.uk/dp/1838950311/ref=cm_sw_r_apan_glt_fabc_6KB3WZ7BY8XBW3WEYA8Q
•••It's All in Your Head by Suzanne O'Sullivan

It's All in Your Head: Stories from the Frontline of Psychosomatic Illness https://www.amazon.co.uk/dp/0099597853/ref=cm_sw_r_apan_glt_fabc_M77GAQV12ES834PWHCTT

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