Parent/caregiver perspectives of meaningful improvement in functional domains for people with CDKL5 deficiency disorder: a mixed-methods study Article Swipe
Jessica Keeley
,
Zoe Skoda
,
Karen Utley
,
Eric D. Marsh
,
Gabrielle Conecker
,
JayEtta Hecker
,
Natasha N. Ludwig
,
Helen Leonard
,
Jacinta Saldaris
,
Peter Jacoby
,
Sharon Pincus
,
Tim A. Benke
,
Scott Demarest
,
Jenny Downs
·
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1007/s11136-025-04048-0
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1007/s11136-025-04048-0
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.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1007/s11136-025-04048-0
- https://link.springer.com/content/pdf/10.1007/s11136-025-04048-0.pdf
- OA Status
- hybrid
- References
- 27
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4414081365
All OpenAlex metadata
Raw OpenAlex JSON
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https://openalex.org/W4414081365Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1007/s11136-025-04048-0Digital Object Identifier
- Title
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Parent/caregiver perspectives of meaningful improvement in functional domains for people with CDKL5 deficiency disorder: a mixed-methods studyWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2025Year of publication
- Publication date
-
2025-09-09Full publication date if available
- Authors
-
Jessica Keeley, Zoe Skoda, Karen Utley, Eric D. Marsh, Gabrielle Conecker, JayEtta Hecker, Natasha N. Ludwig, Helen Leonard, Jacinta Saldaris, Peter Jacoby, Sharon Pincus, Tim A. Benke, Scott Demarest, Jenny DownsList of authors in order
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https://doi.org/10.1007/s11136-025-04048-0Publisher landing page
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https://link.springer.com/content/pdf/10.1007/s11136-025-04048-0.pdfDirect link to full text PDF
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YesWhether a free full text is available
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hybridOpen access status per OpenAlex
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https://link.springer.com/content/pdf/10.1007/s11136-025-04048-0.pdfDirect OA link when available
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0Total citation count in OpenAlex
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10Other works algorithmically related by OpenAlex
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