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Open Access 01-12-2023 | Ehlers-Danlos Syndrome | Review

Pediatric joint hypermobility: a diagnostic framework and narrative review

Authors: Louise Jane Tofts, Jane Simmonds, Sarah B. Schwartz, Roberto M. Richheimer, Constance O’Connor, Ellen Elias, Raoul Engelbert, Katie Cleary, Brad T. Tinkle, Antonie D. Kline, Alan J. Hakim, Marion A. J. van Rossum, Verity Pacey

Published in: Orphanet Journal of Rare Diseases | Issue 1/2023

Abstract

Background

Hypermobile Ehlers–Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) are debilitating conditions. Diagnosis is currently clinical in the absence of biomarkers, and criteria developed for adults are difficult to use in children and biologically immature adolescents. Generalized joint hypermobility (GJH) is a prerequisite for hEDS and generalized HSD. Current literature identifies a large proportion of children as hypermobile using a Beighton score ≥ 4 or 5/9, the cut off for GJH in adults. Other phenotypic features from the 2017 hEDS criteria can arise over time. Finally, many comorbidities described in hEDS/HSD are also seen in the general pediatric and adolescent population. Therefore, pediatric specific criteria are needed. The Paediatric Working Group of the International Consortium on EDS and HSD has developed a pediatric diagnostic framework presented here. The work was informed by a review of the published evidence.

Observations

The framework has 4 components, GJH, skin and tissue abnormalities, musculoskeletal complications, and core comorbidities. A Beighton score of ≥ 6/9 best identifies children with GJH at 2 standard deviations above average, based on published general population data. Skin and soft tissue changes include soft skin, stretchy skin, atrophic scars, stretch marks, piezogenic papules, and recurrent hernias. Two symptomatic groups were agreed: musculoskeletal and systemic. Emerging comorbid relationships are discussed. The framework generates 8 subgroups, 4 pediatric GJH, and 4 pediatric generalized hypermobility spectrum disorders. hEDS is reserved for biologically mature adolescents who meet the 2017 criteria, which also covers even rarer types of Ehlers–Danlos syndrome at any age.

Conclusions

This framework allows hypermobile children to be categorized into a group describing their phenotypic and symptomatic presentation. It clarifies the recommendation that comorbidities should be defined using their current internationally accepted frameworks. This provides a foundation for improving clinical care and research quality in this population.

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Title: Pediatric joint hypermobility: a diagnostic framework and narrative review
Authors: Louise Jane Tofts
Jane Simmonds
Sarah B. Schwartz
Roberto M. Richheimer
Constance O’Connor
Ellen Elias
Raoul Engelbert
Katie Cleary
Brad T. Tinkle
Antonie D. Kline
Alan J. Hakim
Marion A. J. van Rossum
Verity Pacey
Publication date: 01-12-2023
Publisher: BioMed Central
Keyword: Ehlers-Danlos Syndrome
Published in: Orphanet Journal of Rare Diseases / Issue 1/2023
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/s13023-023-02717-2

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Pediatric joint hypermobility: a diagnostic framework and narrative review

Abstract

Background

Observations

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Observations

Conclusions

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