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

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.

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.

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.

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. Competing Interest Statement The authors have declared no competing interest. Funding Statement This work was funded by Ionis Pharmaceuticals Author Declarations I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained. Yes The details of the IRB/oversight body that provided approval or exemption for the research described are given below: central IRB IntegReview (Austin, TX) gave ethical approval for this work I confirm that all necessary patient/participant consent has been obtained and the appropriate institutional forms have been archived, and that any patient/participant/sample identifiers included were not known to anyone (e.g., hospital staff, patients or participants themselves) outside the research group so cannot be used to identify individuals. Yes I understand that all clinical trials and any other prospective interventional studies must be registered with an ICMJE-approved registry, such as ClinicalTrials.gov. I confirm that any such study reported in the manuscript has been registered and the trial registration ID is provided (note: if posting a prospective study registered retrospectively, please provide a statement in the trial ID field explaining why the study was not registered in advance). Yes I have followed all appropriate research reporting guidelines, such as any relevant EQUATOR Network research reporting checklist(s) and other pertinent material, if applicable. Yes Footnotes Data Availability All data produced in the present study are available upon reasonable request to the authors