JMIR Publications

ABSTRACT

Background:

Dravet syndrome is a complex developmental and epileptic encephalopathy characterized by treatment-resistant seizures and multiple comorbidities that significantly affect quality of life. Traditional clinic-based assessments often fail to capture real-world functional abilities and behavioral changes.

Objective:

This project aimed to explore the feasibility of co-creating digital outcome measures with caregivers to inform future clinical research.

Methods:

A multi-stage Patient and Public Involvement activity was conducted in collaboration with a patient advocacy organization and a digital health company. The process included a literature review, a caregiver survey to identify meaningful aspects of health, a design workshop to refine priorities and technology preferences, and usability testing of a prototype app. Data were analyzed descriptively to inform iterative co-creation; no hypothesis testing was performed.

Results:

Fifty caregivers completed the survey. Neuropsychiatric symptoms (35%, 18/50), independence (33%, 17/50), and social or leisure activities (31%, 16/50) were the most commonly reported impacted domains. Eight caregivers participated in the design workshop, emphasizing flexibility, age-appropriate tasks, and reduced reporting burden. Usability testing was conducted with five caregivers over two weeks, with four providing feedback. Participants reported a generally positive reception of the digital tools, particularly customizable task selection and open-text fields, while identifying challenges related to video recording logistics and questionnaire repetition. Feedback underscored the need for simplified workflows and individualized approaches to maintain engagement.

Conclusions:

Co-creation with caregivers is feasible and essential for developing meaningful digital outcome measures in Dravet syndrome. Video-based tasks and remote reporting tools show promise for capturing motor, cognitive, and behavioral domains beyond seizure frequency. Future work should focus on iterative refinement and formal validation of these measures as endpoints in clinical trials, ensuring they reflect outcomes that matter most to patients and families.