Parent/caregiver perspectives of meaningful improvement in functional domains for people with CDKL5 deficiency disorder: a mixed-methods study
Meaningful improvement means different things to different people with some factors consistent regardless of ability level suggesting important underlying concepts for measurement requiring future investigation. These findings can contribute to the development of clinical treatments and trials that focus on factors that are important to people with CDD and their families.
Authors
- Karen Utley
- Tim A. Benke (ORCID: https://orcid.org/0000-0002-6969-5061)
- Jenny Downs (ORCID: https://orcid.org/0000-0001-7358-9037)
- Sharon Pincus
- Eric D. Marsh (ORCID: https://orcid.org/0000-0003-3264-0902)
- Jessica Keeley (ORCID: https://orcid.org/0000-0001-9613-4713)
- Natasha N. Ludwig (ORCID: https://orcid.org/0000-0002-8934-7267)
- Helen Leonard (ORCID: https://orcid.org/0000-0001-6405-5834)
- Jacinta Saldaris (ORCID: https://orcid.org/0000-0003-4638-6589)
- Gabrielle Conecker (ORCID: https://orcid.org/0000-0003-3274-0292)
- Scott Demarest (ORCID: https://orcid.org/0000-0002-4544-3724)
- JayEtta Hecker (ORCID: https://orcid.org/0009-0001-2704-5044)
- Peter Jacoby (ORCID: https://orcid.org/0000-0001-5092-7697)
- Zoe Skoda
Institutions
- Kennedy Krieger Institute (US)
- Ford Foundation (US)
- Children's Hospital of Philadelphia (US)
- Johns Hopkins University (US)
- Outcomes Research Consortium (US)
- The Kids Research Institute Australia (AU)
- Murdoch University (AU)
- Curtin University (AU)
- Health Alliance International (US)
- Children's Hospital Colorado (US)
- University of Colorado Anschutz Medical Campus (US)
- University of Colorado Denver (US)
Publication Details
- Journal
- Quality of Life Research
- Published
- 2025-09-09
- DOI
- https://doi.org/10.1007/s11136-025-04048-0
- Citations
- 1
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.82
Funders
- International Foundation for CDKL5 Research
- Stan Perron Charitable Foundation
- National Institutes of Health
- National Institute of Neurological Disorders and Stroke