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Review
. 2023 May 4;18(1):104.
doi: 10.1186/s13023-023-02717-2.

Pediatric joint hypermobility: a diagnostic framework and narrative review

Louise Jane Tofts  1 , Jane Simmonds  2   3 , Sarah B Schwartz  4 , Roberto M Richheimer  5 , Constance O'Connor  4 , Ellen Elias  6   7 , Raoul Engelbert  8 , Katie Cleary  9 , Brad T Tinkle  10 , Antonie D Kline  11 , Alan J Hakim  12 , Marion A J van Rossum  13 , Verity Pacey  1
Affiliations
Review

Pediatric joint hypermobility: a diagnostic framework and narrative review

Louise Jane Tofts et al. Orphanet J Rare Dis. .

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.

Keywords: Adolescent; Child; Ehlers–Danlos syndrome; Joint hypermobility.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
A diagnostic checklist for pediatric joint hypermobility and hypermobilty spectrum disorder
See this image and copyright information in PMC

References

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Supplementary concepts