Assessing a Diagnostic Tool for Hypermobile Ehlers-Danlos Syndrome: Helping Users Find Appropriate Care For a Relatively Common But Often Unfamiliar Genetic Disease
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Authors
Kosmin, Abby
Laible, Natalie
Issue Date
2022-05-01
Type
thesis_campus
Language
Keywords
Diagnostic tool , hypermobile Ehlers-Danlos Syndrome , patient experiences , diagnostic odyssey , diagnostic criteria , Medical Genetics
Alternative Title
Human Genetics Theses
Abstract
The hypermobile type of Ehlers-Danlos Syndrome (hEDS) is thought to be the most common inherited connective tissue disorder. Despite its suspected prevalence, diagnosing this phenotypically heterogeneous condition remains a challenge that has dramatic impacts on quality of life for individuals with hEDS. This study explores the utility of a diagnostic tool for individuals with signs of hEDS to assess whether their features align with 2017 diagnostic criteria. The study also explores how this tool may help patients communicate information about hEDS to their doctors, influencing the diagnosis of hEDS and affecting patient experiences. Using focus groups, 15 participants clinically diagnosed with hEDS were interviewed about their thoughts and opinions on a prototype of the diagnostic tool. The data was analyzed using affinity mapping. The feedback provides insight on the perceived usefulness, ease, and value of the tool, including preferred phrasing of questions, preferences regarding layout and design aspects, and how participants think individuals would access the tool.
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