JMIR Publications

ABSTRACT

Background:

The Clinical Picture Maker (CPM) platform supports the collection, validation, and distribution of expert-reviewed, caregiver-recorded videos, enabling scalable capture of rare disease symptoms outside of clinical settings. Rare diseases affect hundreds of millions of people worldwide, yet each condition impacts fewer than 200,000 people. Most clinicians have little opportunity to observe individuals with rare diseases and lack visual familiarity with the subtle and complex presentations. This can cause misdiagnoses, treatment delays, and adverse outcomes. Clinician familiarity with symptoms and behaviors can be enhanced by video documentation of patients of different ages with different disease severities filmed in natural settings.

Objective:

We evaluated the feasibility of using CPM-based video content to improve learners’ identification of SCN2A-related disorders (SCN2A-RD) symptoms compared to text-only descriptions.

Methods:

Caregiver-recorded videos of individuals with SCN2A-RD were collected via the CPM and reviewed by six experts, each assessing a subset of videos. Video clips of symptoms were incorporated into a four-chapter course delivered in a video-enhanced or text-only format. Forty-seven students from health and human services programs were randomized to the video (23) or text-only course (24). After the course, participants performed a 20-item visual symptom identification assessment. Group scores were evaluated using Welch’s t-test, and post-assessment open-ended discussions were thematically analyzed.

Results:

Video group participants (n=23, mean 11.7, SD 2.8) scored higher than the text-only group (n=24, mean 9.7, SD 3.7), P=.042; Cohen’s d=0.61. Qualitative analysis identified four themes: (1) video reshaped prior assumptions about symptoms, (2) assessment difficulty reflected real-world symptom ambiguity, (3) video was perceived as superior for learning visual phenomena, and (4) participants anticipated the material’s relevance to future professional practice.

Conclusions:

Caregiver-recorded video resources improved identification of visually complex SCN2A-RD symptoms compared to text-only information. Video documentation may be a scalable adjunct to traditional educational materials for rare disease education, particularly when symptoms are paroxysmal, occur outside the medical setting, and identification relies on visual pattern recognition. These approaches may extend to other aspects of rare disease research and clinical care (e.g., characterization of phenotypic variation, longitudinal monitoring, and clinical decision-making support).