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PubMed articles by:
Tofts, L.
Elliott, E.
Munns, C.
Sillence, D.
Pediatr Rheumatol Online J. 2009; 7: 1.
Published online 2009 January 5. doi: 10.1186/1546-0096-7-1.
PMCID: PMC2628911
Copyright © 2009 Tofts et al; licensee BioMed Central Ltd.
The differential diagnosis of children with joint hypermobility: a review of the literature
Louise J Tofts,corresponding author1,2,3,4 Elizabeth J Elliott,4,5,6 Craig Munns,1,4,7 Verity Pacey,1,3,4,8 and David O Sillence1,4,9
1The Connective Tissue Dysplasia Clinic, The Children's Hospital at Westmead, Sydney, NSW, Australia
2Children's Hospital Institute of Sports Medicine, The Children's Hospital at Westmead, Sydney, NSW, Australia
3Rehabilitation Department, The Children's Hospital at Westmead, Sydney, NSW, Australia
4Discipline of Paediatrics and Child Health, University of Sydney, NSW, Australia
5Division of Medicine, The Children's Hospital at Westmead, Sydney, NSW, Australia
6Australian Paediatric Surveillance Unit, The Children's Hospital at Westmead, Sydney, NSW, Australia
7Department of Endocrinology, The Children's Hospital at Westmead, Sydney, NSW, Australia
8Physiotherapy Department, The Children's Hospital at Westmead, Sydney, NSW, Australia
9Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, NSW, Australia
corresponding authorCorresponding author.
Louise J Tofts: louisetofts/at/gmail.com; Elizabeth J Elliott: elizabe2/at/chw.edu.au; Craig Munns: craigm2/at/chw.edu.au; Verity Pacey: verityp/at/chw.edu.au; David O Sillence: davids/at/chw.edu.au
Received August 20, 2008; Accepted January 5, 2009.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
 
Abstract
Background
In this study we aimed to identify and review publications relating to the diagnosis of joint hypermobility and instability and develop an evidence based approach to the diagnosis of children presenting with joint hypermobility and related symptoms.
Methods
We searched Medline for papers with an emphasis on the diagnosis of joint hypermobility, including Heritable Disorders of Connective Tissue (HDCT).
Results
3330 papers were identified: 1534 pertained to instability of a particular joint; 1666 related to the diagnosis of Ehlers Danlos syndromes and 330 related to joint hypermobility.
There are inconsistencies in the literature on joint hypermobility and how it relates to and overlaps with milder forms of HDCT. There is no reliable method of differentiating between Joint Hypermobility Syndrome, familial articular hypermobility and Ehlers-Danlos syndrome (hypermobile type), suggesting these three disorders may be different manifestations of the same spectrum of disorders. We describe our approach to children presenting with joint hypermobility and the published evidence and expert opinion on which this is based.
Conclusion
There is value in identifying both the underlying genetic cause of joint hypermobility in an individual child and those hypermobile children who have symptoms such as pain and fatigue and might benefit from multidisciplinary rehabilitation management.
Every effort should be made to diagnose the underlying disorder responsible for joint hypermobility which may only become apparent over time. We recommend that the term "Joint Hypermobility Syndrome" is used for children with symptomatic joint hypermobility resulting from any underlying HDCT and that these children are best described using both the term Joint Hypermobility Syndrome and their HDCT diagnosis.
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