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Journal article
Parent/caregiver perspectives of meaningful improvement in functional domains for people with CDKL5 deficiency disorder: a mixed-methods study
Quality of life research
2025
PMID: 40924387
Abstract
Purpose
CDKL5 deficiency disorder (CDD) is a rare developmental and epileptic encephalopathy. Greater understanding of the smallest meaningful improvements for individuals with CDD in clinical trials and practice is needed for a person-centred approach to treatment efficacy. This study explored how parent/caregivers of people with CDD understood meaningful improvements and described change for priority functional domains including communication, gross motor, fine motor, feeding.
Methods
This study included an in-person workshop and a convergent mixed-methods online survey. Parent/caregivers (n = 19) attending the 6th Family Educational and Awareness Conference for CDD participated in discussion groups for the workshop component. The survey (n = 80) collected descriptive data and open-ended responses. Qualitative data were stratified by ability levels and analysed using a conventional content analysis.
Results
Definitions of meaningful improvement varied in terms of desired speed and magnitude of change and included health and skill stability. Parent/caregivers described meaningful increases in developmental skills that were specific to each domain and level of ability. Some concepts were common across ability levels within domains (e.g., increased independence across all gross motor levels) and others were consistent across domains (e.g., improved utensil use in fine motor and feeding domains).
Conclusion
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.
Details
- Title
- Parent/caregiver perspectives of meaningful improvement in functional domains for people with CDKL5 deficiency disorder: a mixed-methods study
- Authors/Creators
- Jessica Keeley - The University of Western AustraliaZoe Skoda - The University of Western AustraliaKaren Utley - International Foundation of CDKL5 Research, Wadsworth, USAEric D Marsh - Children's Hospital of PhiladelphiaGabrielle A Conecker - Alliance Data (United States)JayEtta Hecker - Alliance Data (United States)Natasha N Ludwig - Kennedy Krieger InstituteHelen Leonard - The University of Western AustraliaJacinta Saldaris - The University of Western AustraliaPeter Jacoby - The University of Western AustraliaSharon Pincus - Outcomes Research ConsortiumTim A Benke - Children's Hospital ColoradoScott T Demarest - Children's Hospital ColoradoJenny Downs - The Kids Research Institute Australia
- Publication Details
- Quality of life research
- Publisher
- Springer Nature
- Number of pages
- 12
- Grant note
- U01NS114312 / National Institute of Health 1K23HD115865 / National Institute of Health Career Development Award
- Identifiers
- 991005814047607891
- Copyright
- © The Author(s) 2025
- Murdoch Affiliation
- School of Psychology
- Language
- English
- Resource Type
- Journal article
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