Pediatric joint hypermobility: a diagnostic framework and narrative review

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.

Phenotypic Clusters and Multimorbidity in Hypermobile Ehlers-Danlos Syndrome

“…The average age of participants was 37 years but included children as young as 13 years, who may present with a different phenotype or fewer comorbidities than they will as adults as previously indicated. 18 Health disparities and limited access to care pose additional challenges, thus the percentages of patients with specific comorbidities are likely conservative estimates. Regardless, our study provides novel insights into the clinical presentation and multimorbidity in hEDS and can serve as a guide for clinical care and future research studies.…”

Management of childbearing with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders: A scoping review and expert co-creation of evidence-based clinical guidelines

“…Guidelines were also included in relation to pain management, mental health, nutrition, supplementation, allergies with immune responses, and overall wellbeing. Further resources and citations are also provided and should be referred to, particularly in relation to paediatrics [ 116 ].…”

Looking back and beyond the 2017 diagnostic criteria for hypermobile Ehlers‐Danlos syndrome: A retrospective cross‐sectional study from an Italian reference center

“…Addressing these issues requires large epidemiological studies in homogeneous populations as possible, advancements in biomarkers, and improved theoretical models of comorbidity. Since it is crucial to further raise awareness among both researchers and clinicians about comorbidities in hEDS and HSD, we recommend that they should all be flagged in any hEDS criteria and must be assessed based on their established diagnostic definitions, in line with the recent published framework for pediatric JHM (Tofts et al, 2023). Notably, while comorbidities do not influence the diagnosis overall, they are highly significant in corroborating the diagnosis and determining the optimal management plan for each individual patient.…”

“…Further hindering hEDS diagnosis at young age, the current criterion of a BS ≥6 might underestimate the presence of gJHM children aged >8 years in the general population (Nicholson et al, 2022; Singh et al, 2017). Some of our concerns about the limited validity of the 2017 criteria for pediatric patients were recently addressed in a paper published by the Pediatric Working Group of the International Consortium on EDS and HSD (Tofts et al, 2023). This publication introduces a specific framework tailored for children from 5 years of age until biological maturity, aiming to provide a more suitable approach for diagnosing pediatric JHM in this population.…”