Assessing Communication Impairments in a Rare Neurodevelopmental Disorder
<i>SCN2A</i>-RD is characterized by severe-to-profound impairment with a SS <4 SDs of the norm-referenced mean. Owing to severe floor effects and their insensitivity to markers of communication function, age-standardized scores (e.g., Vineland SS) are not fit for purpose in clinical trials or other settings for evaluating nonseizure outcomes such as communication. GSVs and alternative scoring and assessments have much better measurement profiles in all these regards and should be considered in future precision medicine trials for <i>SCN2A</i>-RDs and other similar rare diseases.
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)
- Shawn M. Egan (ORCID: https://orcid.org/0009-0006-6422-809X)
- 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)
- University of Illinois Chicago (US)
Publication Details
- Journal
- Neurology Clinical Practice
- Published
- 2024-10-18
- DOI
- https://doi.org/10.1212/cpj.0000000000200391
- Citations
- 6
- Primary Topic
- Autism Spectrum Disorder Research
- Type
- article
- Field-Weighted Citation Impact
- 2.06