Development of at-home video recordings for functional skill assessment in Angelman Syndrome: a pilot study

Outcome measures currently used to assess function in Angelman Syndrome (AS) may be affected by participant anxiety in the clinic, use of a measure outside of age norms, and a reliance on caregiver report. This study aimed to leverage the process used to develop the Duchenne Video Assessment to develop, pilot, and evaluate tasks to be recorded in AS to lay the foundation for the Angelman Syndrome Video Assessment (ASVA), which is being developed for the assessment of everyday functional skills in individuals with AS in their home environment. The task list was informed by published conceptual disease models identifying four domains of interest (i.e. communication, motor skills (fine and gross), self-care and executive functioning) and determined by a team of experts based on family and clinician input. The study was conducted remotely in the home environment, with families capturing videos of everyday activities and participating in an exit interview about their experience. Videos were evaluated, and caregiver interview transcripts were coded and analyzed to determine whether each task would be included in the finalized measure. Eleven dyads (i.e., caregiver and individual with AS) completed the study. Individuals with AS between 4 and 39 years of age were enrolled. The video completion rate was 96%, with 99% of the submitted videos meeting quality standards. Caregivers endorsed the value of assessing these individuals in their home environment. The video capture list was reduced to 13 tasks for ambulatory individuals and 12 tasks for minimally ambulatory individuals. The ASVA is a novel tool that captures data on the daily functioning of individuals with AS in their home environment. If it is validated in the future, this tool presents a promising new approach to evaluate participant functioning in clinical trials and for clinical care.