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

Abstract Background Outcome measures currently used to assess function in Angelman Syndrome (AS) may be affected by subject anxiety in clinic, a disconnect between the normed age range of the measure and the study population, and a reliance on caregiver report. This study aimed to develop and pilot a novel outcome for AS, the Angelman Syndrome Video Assessment (ASVA) for the assessment of everyday functional skills in individuals with AS in their home environment. Methods The task list was informed by published conceptual disease models 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. Results Eleven dyads completed the study. The video completion rate was 96%, with 99% of the submitted videos meeting quality standards. Caregivers endorsed the value of assessing people with AS in the home environment. The video capture list was reduced from 27 to 17 tasks. Conclusions The ASVA is a novel tool that captures data on the daily functioning of individuals with AS in their home environment. This tool presents a potential new way to evaluate subject function in clinical trials and for clinical care.