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. 2024 Sep 26:8:e49720.
doi: 10.2196/49720.

Assessing the Utility of a Patient-Facing Diagnostic Tool Among Individuals With Hypermobile Ehlers-Danlos Syndrome: Focus Group Study

Jessica Goehringer #  1 , Abigail Kosmin #  2   3 , Natalie Laible #  2   4 , Katrina Romagnoli #  5
Affiliations

Assessing the Utility of a Patient-Facing Diagnostic Tool Among Individuals With Hypermobile Ehlers-Danlos Syndrome: Focus Group Study

Jessica Goehringer et al. JMIR Form Res. .

Abstract

Background: Hypermobile Ehlers-Danlos syndrome (hEDS), characterized by joint hypermobility, skin laxity, and tissue fragility, is thought to be the most common inherited connective tissue disorder, with millions affected worldwide. Diagnosing this condition remains a challenge that can impact quality of life for individuals with hEDS. Many with hEDS describe extended diagnostic odysseys involving exorbitant time and monetary investment. This delay is due to the complexity of diagnosis, symptom overlap with other conditions, and limited access to providers. Many primary care providers are unfamiliar with hEDS, compounded by genetics clinics that do not accept referrals for hEDS evaluation and long waits for genetics clinics that do evaluate for hEDS, leaving patients without sufficient options.

Objective: This study explored the user experience, quality, and utility of a prototype of a patient-facing diagnostic tool intended to support clinician diagnosis for individuals with symptoms of hEDS. The questions included within the prototype are aligned with the 2017 international classification of Ehlers-Danlos syndromes. This study explored how this tool may help patients communicate information about hEDS to their physicians, influencing the diagnosis of hEDS and affecting patient experience.

Methods: Participants clinically diagnosed with hEDS were recruited from either a medical center or private groups on a social media platform. Interested participants provided verbal consent, completed questionnaires about their diagnosis, and were invited to join an internet-based focus group to share their thoughts and opinions on a diagnostic tool prototype. Participants were invited to complete the Mobile App Rating Scale (MARS) to evaluate their experience viewing the diagnostic tool. The MARS is a framework for evaluating mobile health apps across 4 dimensions: engagement, functionality, esthetics, and information quality. Qualitative data were analyzed using affinity mapping to organize information and inductively create themes that were categorized within the MARS framework dimensions to help identify strengths and weaknesses of the diagnostic tool prototype.

Results: In total, 15 individuals participated in the internet-based focus groups; 3 (20%) completed the MARS. Through affinity diagramming, 2 main categories of responses were identified, including responses related to the user interface and responses related to the application of the tool. Each category included several themes and subthemes that mapped well to the 4 MARS dimensions. The analysis showed that the tool held value and utility among the participants diagnosed with hEDS. 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 insights on the perceived utility and value of the tool, including preferred phrasing, layout and design preferences, and tool accessibility. The participants expressed that the tool may improve the hEDS diagnostic odyssey and help educate providers about the diagnostic process.

Keywords: affinity mapping; diagnostic odyssey; diagnostic tool; hypermobile Ehlers-Danlos syndrome; mobile health app; mobile phone; patient experiences.

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Conflict of interest statement

Conflicts of Interest: The authors declare the following financial interests or personal relationships that may be considered as potential competing interests. As of January 1, 2023, the first author, JG, began a 2-year paid contract to work with the Ehlers-Danlos Society to develop a mobile app to facilitate diagnosis of hypermobile Ehlers-Danlos syndrome and provide a platform for patients to log medical information and interact. This financial relationship was a result of the research presented in this manuscript and was not in place at the time the research was conducted. The other authors have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

Figures

Figure 1
Figure 1
The landing page for the prototype of a patient-facing digital tool to facilitate diagnosis of hypermobile Ehlers-Danlos syndrome (hEDS) is shown in this figure. It includes a disclaimer, the expected time needed to complete the tool, what will be needed to complete the tool, who the tool is intended for, and what the tool will produce.
Figure 2
Figure 2
The flow of the affinity mapping process that was used in this study starting from ideas shared during focus groups and ending with qualitative coding of focus group transcripts. VFG: virtual focus group.
Figure 3
Figure 3
This is an example of the first page of a multipage printable summary sheet that would be produced from answering the questions on the app. Users can opt to share it with their medical provider to facilitate discussion about their symptoms in relation to the diagnostic criteria for hypermobile Ehlers-Danlos syndrome (EDS).
See this image and copyright information in PMC

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