This week’s Research Roundup features recent studies on myopathic EDS (mEDS) and hypermobile EDS (hEDS). These studies explore genetics, chronic pain, swallowing difficulties, and parenting perspectives in rare conditions.
COL12A1-related myopathic Ehlers-Danlos syndrome with Chiari I malformation: A clinical report
A case report on an adult with myopathic Ehlers-Danlos syndrome (mEDS) identified a new COL12A1 variant that leads to reduced production of collagen XII. The researchers also suggested that the presence of Chiari I malformation may help distinguish mEDS from COL6-related disorders.
Further research is needed to explore these findings in other people with mEDS and how this variant may be linked to mEDS.
Authors: Shinmi J, Takizawa H, Saito Y, Matsui A, Oya Y, Sakuta R, Nishino I, Takahashi Y
DOI: 10.1016/j.ejmg.2025.105057
Painful subjects: the sociogenic processing of pain in individuals with Ehlers-Danlos syndromes (EDS)
Researchers interviewed 39 adults with EDS to explore how interactions with clinicians shape experiences of chronic pain. Participants described how perceived doubt from clinicians caused them to question their pain and downplay its severity.
These findings suggest social and clinical interactions may influence pain perception and self-doubt.
Authors: Doyle T, Vershaw S, Halverson C
DOI: 10.1016/j.ssmmh.2026.100634
Patterns of and experiences with dysphagia in people with hypermobile Ehlers-Danlos syndrome (hEDS) with or without dysautonomia—a qualitative study
A study explored dysphagia in people with hEDS, identifying four key themes in patient experiences:
- Dismissal of symptoms as “anxiety” by at least one provider before diagnosis occurs often
- Swallowing discomfort is common
- Gastrointestinal symptoms may affect swallowing and lead to nutritional or hydration support
- Breathing difficulties may affect coordination between breathing and swallowing
Future research may explore the underlying mechanisms across all phases of swallowing.
Authors: Britton D, Stonick K, Lopez D, Graville D
DOI: 10.1007/s00455-026-10952-5
Parenting adolescents with rare diseases: representations of youth strengths and difficulties and perceived parental competence
A survey explored parental perceptions of children’s strengths and difficulties, along with parenting satisfaction, in families with and without rare diseases (including EDS).
Parents of children with rare diseases reported more emotional and behavioral difficulties, but also higher confidence and satisfaction in their parenting. Patterns varied by family size, with higher perceived competence in three-child families and higher satisfaction in one-child families.
These findings suggest families may experience both challenges and resilience.
Authors: Polizzi C, Alesi M, Iacono Isidoro S, Siciliano M, Giodice R, Scalici R, Gentile A
