JMIR Publications

ABSTRACT

Background:

The hypermobile type of Ehlers-Danlos Syndrome (hEDS) is thought to be the most common inherited connective tissue disorder with millions affected worldwide. It is characterized by joint hypermobility, skin laxity and tissue fragility, and is often accompanied by various comorbidities. Despite its considerable estimated prevalence, diagnosing this phenotypically heterogeneous condition remains a challenge that can dramatically impact quality of life for individuals with hEDS. Many with hEDS describe a diagnostic odyssey of years, involving exorbitant time and monetary investment.

Objective:

This study explores the quality and utility of a patient-facing diagnostic tool for individuals with symptoms of hEDS. The questions included within the diagnostic tool are aligned with the 2017 International Classification of the Ehlers-Danlos Syndromes. 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.

Methods:

Participants clinically diagnosed with hEDS were recruited from either a medical center or private groups on a social media platform. Those interested in participating provided verbal consent, completed questionnaires about their diagnosis, and were invited to participate in a virtual focus group to share their thoughts and opinions on a prototype of the diagnostic tool. Fifteen individuals participated in the virtual focus groups. Subsequently, participants were invited to complete the Mobile Application Rating Scale (MARS) to evaluate their experience viewing the diagnostic tool; 3 participants completed this rating scale. The qualitative data were analyzed using affinity mapping to organize information and inductively create themes. The MARS was used as an evaluation framework to map themes identified from affinity mapping to the framework and facilitate the identification of strengths and weaknesses of the diagnostic tool prototype.

Results:

Through affinity diagramming, two main categories of responses were identified including responses relating to the user interface and responses relating to the application of the tool. Each of the two categories included several themes and subthemes which mapped well to the MARS dimensions of aesthetics, functionality, engagement, and information. The analysis showed that the tool holds value and utility among the participants diagnosed with hEDS, and the simple, chatbot-style format is acceptable and user-friendly. The shareable ending summary sheet provided by the tool stood out as a strength for facilitating communication between patient and provider during the diagnostic evaluation.

Conclusions:

The results provide insight on the perceived quality, 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. The participants expressed that the diagnostic tool may improve the diagnostic odyssey for individuals with hEDS and help educate providers about the diagnostic process. Clinical Trial: N/A