Evidence map›Paper›PMID 42218552›Full record

ArticleOrphanet journal of rare diseases2026

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

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

Abstract readScoping Review
PubMed Full text at PMC Publisher
In one paragraph

Article in Orphanet journal of rare diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Phoebe PochcialWroclaw Medical University, Wroclaw, Poland.
Sarah Cohen SolomonDepartment of Pediatrics, University of Virginia, Charlottesville, VA, USA.
Katelyn A BrunoDivision of Cardiovascular Medicine, Department of Medicine, University of Florida, Gainesville, FL, USA.
DeLisa FairweatherDepartment of Medicine, University of Virginia, Charlottesville, VA, USA.
Angelica KinaneDepartment of Medicine, University of Virginia, Charlottesville, VA, USA.
Lisa LetzkusDepartment of Pediatrics, University of Virginia, Charlottesville, VA, USA.
Kelly K GurkaDepartment of Pediatrics, University of Virginia, Charlottesville, VA, USA.
Ina StephensDepartment of Pediatrics, University of Virginia, Charlottesville, VA, USA.
Dacre R T KnightDepartment of Medicine, University of Virginia, Charlottesville, VA, USA. ths4er@uvahealth.org.ORCID http://orcid.org/0000-0001-6206-0680

Funding

Role of mitochondrial extracellular vesicles in CVB3 myocarditis by sexR01HL164520 · NHLBI · MAYO CLINIC JACKSONVILLE · PI FAIRWEATHER, DELISA · 2022 to 2025
$3.0M
Sex differences in hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disordersR21AR084101 · NIAMS · MAYO CLINIC JACKSONVILLE · PI BRUNO, KATELYN ANN, FAIRWEATHER, DELISA · 2025 to 2025
$379k
American Heart Association 23SCEFIA1153413Mayo Clinic RACERNHLBI NIH HHS HL164520NHLBI NIH HHS R01 HL164520NIAMS NIH HHS R21 AR084101
6 · The paper itself

Abstract

backgroundPediatric 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.

methodsA 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.

resultsThematic 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.

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

Indexed as

Ehlers-Danlos SyndromeJoint InstabilityAdolescentChildChild, PreschoolHumansInfantDiagnostic delayEarly diagnosisHypermobile ehlers-danlos syndromeHypermobility spectrum disorderNeurodevelopmental comorbiditiesPediatric hypermobilityScoping review

Identifiers

PMID42218552
PMCPMC13435761

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