Beyond Seizures as an Outcome Measure: A Global Severity Scoring System for CDKL5 Deficiency Disorder
The resultant global severity score provided evidence that the assessments formed a coherent set of measures that reliably and meaningfully captured the diversity of severity in CDD. The models illustrated how the symptoms form a measurable network of relationships which may be suitable as an outcome measure for CDD and DEEs more broadly in clinical trials.
Authors
- Joni N. Saby
- Tim A. Benke (ORCID: https://orcid.org/0000-0002-6969-5061)
- R. Rajaraman (ORCID: https://orcid.org/0000-0002-9685-7118)
- Heather E. Olson (ORCID: https://orcid.org/0000-0002-5385-0119)
- Jenny Downs (ORCID: https://orcid.org/0000-0001-7358-9037)
- Elia Pestana‐Knight (ORCID: https://orcid.org/0000-0001-9068-4167)
- Eric D. Marsh (ORCID: https://orcid.org/0000-0003-3264-0902)
- Helen Leonard (ORCID: https://orcid.org/0000-0001-6405-5834)
- Jacinta Saldaris (ORCID: https://orcid.org/0000-0003-4638-6589)
- Scott Demarest (ORCID: https://orcid.org/0000-0002-4544-3724)
- Judith Weisenberg (ORCID: https://orcid.org/0000-0003-2031-7278)
- Peter Jacoby (ORCID: https://orcid.org/0000-0001-5092-7697)
- Bernhard Suter (ORCID: https://orcid.org/0000-0002-0127-7322)
- Dana Price (ORCID: https://orcid.org/0000-0003-3969-6394)
Institutions
- Boston Children's Hospital (US)
- Cleveland Clinic (US)
- St. Louis Children's Hospital (US)
- Children's Hospital of Philadelphia (US)
- The Kids Research Institute Australia (AU)
- Baylor College of Medicine (US)
- NYU Langone Health (US)
- Children's Hospital Colorado (US)
- Mattel Children's Hospital (US)
- University of Colorado Denver (US)
Publication Details
- Journal
- Brain and Behavior
- Published
- 2025-11-01
- DOI
- https://doi.org/10.1002/brb3.71061
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- International Rett Syndrome Foundation
- Grace Science Foundation
- Ultragenyx Pharmaceutical
- Ionis Pharmaceuticals
- GW Pharmaceuticals
- ACADIA Pharmaceuticals
- AveXis
- Marinus Pharmaceuticals
- LouLou Foundation
- International Foundation for CDKL5 Research
- Stan Perron Charitable Foundation
- National Institutes of Health
- National Institute of Neurological Disorders and Stroke