Gross Motor Function in Individuals With SCN2A-Related Disorders
Gross motor function in people with SCN2A-RDs is so severely impaired that it cannot be adequately measured with norm-referenced (standardized) scores. GSVs and alternative scoring assessments used out of their intended age range have superior and promising psychometric features in this severely impaired group, and they should be considered in future precision medicine trials for SCN2A-RDs and other similarly severe, rare disorders.
Authors
- Gerry Nesbitt
- Erica Anderson (ORCID: https://orcid.org/0009-0003-7547-2643)
- Lindsey Evans (ORCID: https://orcid.org/0000-0002-8948-0375)
- Ariela Kaiser (ORCID: https://orcid.org/0000-0002-8726-4126)
- Anne T. Berg (ORCID: https://orcid.org/0000-0002-0298-5523)
- Aaron J. Kaat (ORCID: https://orcid.org/0000-0001-8147-1899)
- Katherine C. Paltell (ORCID: https://orcid.org/0000-0002-1567-6463)
- Amanda N. Nili (ORCID: https://orcid.org/0000-0001-7547-6415)
- Leah S. Myers
Institutions
- Northwestern University (US)
- Illinois Institute of Technology (US)
- Epilepsy Foundation (US)
- University of Illinois Chicago (US)
- Xilinx (Ireland) (IE)
- FamilieSCN2A Foundation (US)
Publication Details
- Journal
- Neurology Clinical Practice
- Published
- 2025-05-02
- DOI
- https://doi.org/10.1212/cpj.0000000000200479
- Citations
- 2
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 3.25