Development of the Angelman syndrome video assessment: quantifying meaningful change
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 (ORCID: https://orcid.org/0000-0001-5566-2173)
- Anjali Sadhwani (ORCID: https://orcid.org/0000-0003-0938-0591)
- Ashley A. Sapp
- Lynne M. Bird (ORCID: https://orcid.org/0000-0003-4833-3747)
- Maria A. Fragala-Pinkham (ORCID: https://orcid.org/0000-0001-7634-7519)
- Claudia Senesac
- Caroline Woeber
- B Black
- Lauren DeValk
- Olivia Boorom (ORCID: https://orcid.org/0000-0003-4970-7368)
- Robert W. Komorowski (ORCID: https://orcid.org/0000-0002-3079-3772)
- S. Benítez Rivero
- Nicole Harris (ORCID: https://orcid.org/0000-0002-5176-2932)
- Wen‐Hann Tan (ORCID: https://orcid.org/0000-0002-1593-6149)
- Rebecca Woods (ORCID: https://orcid.org/0000-0002-4589-1447)
- Amanda Guevara
- Jessica Duis (ORCID: https://orcid.org/0000-0001-6605-1028)
- Rhys Huw Thomas (ORCID: https://orcid.org/0000-0003-2062-8623)
- Nancy C. Brady (ORCID: https://orcid.org/0000-0001-7573-9000)
- Marie Thomas
- Cody M. Washburn
- Kara Arps
- Jessica Lopes (ORCID: https://orcid.org/0000-0003-4100-2232)
- Anne Wheeler (ORCID: https://orcid.org/0000-0003-2693-5616)
- Rebecca Crean
- Catherine B. McClellan
- Christina K. Zigler (ORCID: https://orcid.org/0000-0002-8996-7757)
- Jennifer Jones (ORCID: https://orcid.org/0000-0003-2023-9652)
- Curtis A. Hanson (ORCID: https://orcid.org/0000-0003-1333-5355)
- R. Leonard
- Mindy Leffler
- Kristen K. Madison
- Michelle Ozick
- Kelsey Pauley
- Courtney Swafford
Institutions
- Boston Children's Hospital (US)
- University of Kansas (US)
- University of Pittsburgh (US)
- Ionis Pharmaceuticals (United States) (US)
- Plymouth Marine Laboratory (GB)
- Children's Hospital Colorado (US)
- Seva Mandir (IN)
- University of Colorado Anschutz Medical Campus (US)
- University of Colorado Denver (US)
Publication Details
- Journal
- Journal of Neurodevelopmental Disorders
- Published
- 2025-11-03
- DOI
- https://doi.org/10.1186/s11689-025-09655-z
- Citations
- 1
- Primary Topic
- Genetic Syndromes and Imprinting
- Type
- article
- Field-Weighted Citation Impact
- 1.82
Funders
- Ionis Pharmaceuticals