Year: 2025
Type: article
Abstract: BACKGROUND: The Angelman Syndrome Video Assessment (ASVA) is a clinician-reported outcome measure that was developed to assess the functional ability of individuals with Angelman Syndrome (AS) in a familiar environment. Through standardized tasks and associated scorecards, clinicians assess four meaningful domains of functioning: communication, activities of daily living (ADLs, which include fine motor skills), gross motor, and external direction (i.e., the ability to follow directions) via scorecards with pre-established criteria. The aim of this project was to develop and refine the scorecards using a rigorous process in partnership with caregivers, clinicians, and researchers in the AS community. METHODS: The Scorecard development process included four phases: (1) video source material study, (2) identification of initial scoring criteria, (3) scorecard drafts, and (4) two (Caregiver and Clinician panel and PT panel) two-round modified Delphi processes to reach consensus. All phases were conducted remotely except for Round 2 of the Caregiver and Clinician Delphi Panel, which was conducted in person. Votes were held for each scoring criterion and consensus was defined as ≥ 70% agreement. RESULTS: In the communication, ADLs, and external direction domains, scorecard criteria reached 80 to 100% agreement among caregivers (n = 8) and clinicians (n = 2), resulting in a total of 218 scoring criteria and levels across 10 tasks. In the gross motor domain, scorecard criteria reached 100% agreement among physical therapists (n = 8) with a total of 347 scoring criteria and levels across 8 tasks. CONCLUSIONS: The ASVA was developed with insights from the AS community, including caregivers of individuals with AS, clinicians, and researchers. The ASVA is a novel, disease-specific, clinician-reported outcome measure that uses standardized video capture and scorecards that were developed through a rigorous process, resulting in well-developed criteria to quantify meaningful changes of function in individuals with AS in communication, ADLs, gross motor function, and external direction.
Authors: Kriszha A. Sheehy, Mindy G. Leffler, Rebecca J. Woods, Robert Komorowski, Rebecca Crean, Christina K. Zigler, Jessica Duis, Olivia Boorom, Nancy Brady, Lauren DeValk, Nicole Harris, Amber Sapp, Caroline Woeber, Anjali Sadhwani, Wen-Hann Tan, ASVA Delphi Panelists, Kara Arps, Lynne M. Bird, Betsy Black, Amanda Guevara, Curtis Hanson, Jennifer Jones, Rebecca Leonard, Jessica Lopes, Kristen K. Madison, Candace McClellan, Michelle Ozick, Kelsey Pauley, Maria Fragala-Pinkham, Sandra Rivero, Claudia Senesac, Courtney Swafford, Marie Thomas, Rhonda Thomas, Carol Washburn, Anne Wheeler
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,990
Funder: Ionis Pharmaceuticals
OpenAlex ID: W4415790631