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Age-related symptom clustering in pediatric hypermobility spectrum disorders: a scoping review
Phoebe Pochcial1, Sarah Cohen Solomon2, Katelyn A Bruno3,4
1Wroclaw Medical University, Wroclaw, Poland.
Insights
Pediatric generalized hypermobility spectrum disorders (pgHSD) are often missed in children. Early recognition of key symptoms like joint instability, pain, fatigue, and GI issues can reduce diagnostic delays.
Area of Science:
- Pediatric rheumatology
- Genetics
- Connective tissue disorders
Background:
- Pediatric generalized hypermobility spectrum disorders (pgHSD) are under-recognized multisystemic heritable connective tissue disorders.
- Diagnostic challenges arise from variable symptoms and lack of genetic markers, leading to delayed diagnosis and increased morbidity.
- Early manifestations are often misattributed, necessitating improved understanding of pgHSD presentations.
Conclusions:
- This scoping review identifies age-related symptom/comorbidity clusters in pediatric hypermobility spectrum disorders.
- The findings aim to support earlier clinical identification of pgHSD.
- Understanding these clusters is crucial for timely diagnosis and management.
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.
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