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Background <p>Pediatric generalized hypermobility spectrum disorders (pgHSD), are a group of multisystemic heritable connective tissue disorders frequently under-recognized in pediatric populations. The variable and often vague early symptomatology, coupled with the absence of definitive genetic markers, present significant diagnostic challenges. Early manifestations are commonly misattributed to other conditions, leading to substantial diagnostic delays and prolonged morbidity. The purpose of this study is to provide clarity on the presentation of pgHSD symptoms that may ultimately reduce diagnostic delays.</p> Methods <p>A scoping review was conducted in accordance with the PRISMA-ScR guidelines. Comprehensive searches were performed on studies reporting clinical features of patients aged 0–18 years diagnosed with hypermobile Ehlers-Danlos syndrome (hEDS), pgHSD, and joint hypermobility syndrome (JHS). There were 27 studies that met the inclusion criteria searched 1974 to May 8, 2025.</p> Results <p>Thematic analysis identified eight recurring symptom clusters that frequently characterize early pgHSD. The most consistently reported features included frequent subluxations or dislocations, chronic musculoskeletal pain, disabling fatigue, orthostatic intolerance, and various gastrointestinal complaints. Notably, impaired neurodevelopmental traits were frequently reported.</p> Conclusions <p>This scoping review maps age-related symptom/comorbidity clusters reported in pediatric hypermobility spectrum disorders, with the aim of informing earlier clinical recognition.</p>

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Age-related symptom clustering in pediatric hypermobility spectrum disorders: a scoping review

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年5月30日

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  • Phoebe Pochcial,
  • Sarah Cohen Solomon,
  • Katelyn A. Bruno,
  • DeLisa Fairweather,
  • Angelica Kinane,
  • Lisa Letzkus,
  • Kelly K. Gurka,
  • Ina Stephens,
  • Dacre R. T. Knight

摘要

Background

Pediatric generalized hypermobility spectrum disorders (pgHSD), are a group of multisystemic heritable connective tissue disorders frequently under-recognized in pediatric populations. The variable and often vague early symptomatology, coupled with the absence of definitive genetic markers, present significant diagnostic challenges. Early manifestations are commonly misattributed to other conditions, leading to substantial diagnostic delays and prolonged morbidity. The purpose of this study is to provide clarity on the presentation of pgHSD symptoms that may ultimately reduce diagnostic delays.

Methods

A scoping review was conducted in accordance with the PRISMA-ScR guidelines. Comprehensive searches were performed on studies reporting clinical features of patients aged 0–18 years diagnosed with hypermobile Ehlers-Danlos syndrome (hEDS), pgHSD, and joint hypermobility syndrome (JHS). There were 27 studies that met the inclusion criteria searched 1974 to May 8, 2025.

Results

Thematic analysis identified eight recurring symptom clusters that frequently characterize early pgHSD. The most consistently reported features included frequent subluxations or dislocations, chronic musculoskeletal pain, disabling fatigue, orthostatic intolerance, and various gastrointestinal complaints. Notably, impaired neurodevelopmental traits were frequently reported.

Conclusions

This scoping review maps age-related symptom/comorbidity clusters reported in pediatric hypermobility spectrum disorders, with the aim of informing earlier clinical recognition.