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The differential diagnosis of children with joint hypermobility: a review of the literature
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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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“Children have high levels of joint hypermobility (herewith hypermobility) [3, 4] making it difficult to distinguish those with a normal physical trait from those with an underlying disorder [5].”
From Pediatric joint hypermobility: a diagnostic framework and narrative review (2023) · cites this paper as [5]
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Blood pressure, lung function and muscular strength values in students with joint hypermobility
Bakić, N., Vučković-Filipović, J., Karan-Rakic, V., Mihajlović, A., Vujasin, D., & Popovic, A. (2023) · Medicinski pregled · doi:10.2298/mpns2310257b
Metadata
- Authors
- Tofts, L. J., Elliott, E. J., Munns, C., Pacey, V., & Sillence, D. O.
- Affiliations
- Children's Hospital at Westmead (AU)
- The University of Sydney (AU)
- Corresponding author
- Tofts, Louise J
- Venue
- Pediatric Rheumatology
- Published
- 2009-01-05
- Volume
- 7
- Issue
- 1
- Pages
- 1-1
- ISSN
- 1546-0096 (ISSN-L)
- PMC
- PMC2628911
- OpenAlex
- W2102415974
- Cited by
- 109
- References
- 26
- Citations by year
- 2026: 2 · 2025: 4 · 2024: 11 · 2023: 6 · 2022: 7 · 2021: 5 · 2020: 5 · 2019: 13 · 2018: 4 · 2017: 6 · 2016: 5 · 2015: 10 · 2014: 6 · 2013: 4 · 2012: 6
- FWCI
- 3.90
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Pediatric Rheumatology (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- Funders
- Medical Research Council
- National Health and Medical Research Council (457084)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Health Sciences › Dentistry › Periodontics › Oral and gingival health research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Dermatological and Skeletal Disorders
- Keywords
- joint hypermobility, hereditary connective tissue disorders, joint instability, differential diagnosis, children, diagnostic criteria, multidisciplinary rehabilitation
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