Pediatric joint hypermobility: a diagnostic framework and narrative review

Area of Science:

• Pediatric Rheumatology
• Genetics
• Clinical Diagnostics

Background:

• Hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) are challenging to diagnose in children due to the lack of biomarkers and adult-centric criteria.
• Generalized joint hypermobility (GJH) is a key factor, but current diagnostic cutoffs (Beighton score ≥4 or 5/9) may overestimate prevalence in pediatric populations.
• Phenotypic features and comorbidities associated with hEDS/HSD often manifest later or are common in the general pediatric population, necessitating pediatric-specific diagnostic tools.

Purpose of the Study:

• To introduce a novel pediatric diagnostic framework for hEDS and HSD, developed by the Paediatric Working Group of the International Consortium on EDS and HSD.
• To provide a structured approach for identifying and categorizing children with GJH, skin and tissue abnormalities, musculoskeletal complications, and core comorbidities.
• To establish a foundation for enhancing clinical care and research quality in pediatric hypermobility conditions.

Main Methods:

• Development of a 4-component diagnostic framework: Generalized Joint Hypermobility (GJH), skin and tissue abnormalities, musculoskeletal complications, and core comorbidities.
• Utilizing a revised Beighton score threshold (≥6/9) to identify GJH in children, aligning with 2 standard deviations above the average in general population data.
• Incorporating established criteria for skin/soft tissue changes and defining symptomatic groups (musculoskeletal and systemic) with consideration of emerging comorbid relationships.

Main Results:

• The framework categorizes children into 8 distinct subgroups: 4 for pediatric GJH and 4 for pediatric generalized hypermobility spectrum disorders.
• It specifies criteria for skin and soft tissue changes, including soft/stretchy skin, atrophic scars, stretch marks, piezogenic papules, and recurrent hernias.
• Hypermobile Ehlers-Danlos syndrome (hEDS) diagnosis is reserved for biologically mature adolescents meeting the 2017 adult criteria, which also encompasses rarer EDS types at any age.

Conclusions:

• The proposed framework enables precise categorization of hypermobile children based on their unique phenotypic and symptomatic profiles.
• It emphasizes the use of current international standards for defining comorbidities, ensuring consistency and clarity.
• This structured approach is expected to significantly improve the quality of clinical management and research for pediatric hypermobility disorders.