Symptom Onset in Classic Rett Syndrome: Analysis of Initial Clinical Severity Scale Entries
These findings reflect core clinical criteria for classic RTT and mirror the top concerns registered independently by parents or caregivers. The CSS is an important analytic tool for association of relative differences in clinical outcome with specific <i>MECP2</i> variant groups and has been important in establishing entrance criteria in RTT clinical trials. The range of age-specific CSS features will continue to inform the RTT NH as well as provide stratification and selection in future clinical trials, especially those involving younger participants.
Authors
- Amitha Ananth (ORCID: https://orcid.org/0000-0002-9671-2883)
- Jeffrey L. Neul (ORCID: https://orcid.org/0000-0002-5628-5872)
- Tim A. Benke (ORCID: https://orcid.org/0000-0002-6969-5061)
- Eric D. Marsh (ORCID: https://orcid.org/0000-0003-3264-0902)
- Alan K. Percy (ORCID: https://orcid.org/0000-0002-9873-5472)
Institutions
- Children's Hospital of Philadelphia (US)
- John F. Kennedy Center for the Performing Arts (US)
- University of Alabama at Birmingham (US)
- Children's Hospital Colorado (US)
- University of Pennsylvania (US)
- Vanderbilt University Medical Center (US)
- University of Colorado Denver (US)
- Philadelphia University (US)
Publication Details
- Journal
- Annals of the Child Neurology Society
- Published
- 2025-06-16
- DOI
- https://doi.org/10.1002/cns3.70017
- Citations
- 1
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.82
Funders
- Cincinnati Children's Hospital Medical Center
- Harvard University
- University of South Florida
- National Institutes of Health
- University of California, San Diego