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What does better look like in individuals with severe neurodevelopmental impairments? A qualitative descriptive study
Jenny Downs1,2, Natasha N Ludwig3, Mary Wojnaroski4
1Telethon Kids Institute, Centre for Child Health Research, The University of Western Australia, PO Box 855, West Perth, WA, 6872, Australia. jenny.downs@telethonkids.org.au.
Insights
Parents identified meaningful functional changes in children with Developmental Epileptic Encephalopathies (DEEs) to guide clinical trial participation. These changes impact quality of life and daily care, varying by developmental level and trial type.
Area of Science:
- Pediatric Neurology
- Clinical Outcome Assessment
- Qualitative Research
Background:
- Limited psychometric data exists for outcome measures in children with Developmental Epileptic Encephalopathies (DEEs).
- There is a lack of data describing meaningful change in functional abilities for children with DEEs.
- Understanding parent perceptions is crucial for designing effective clinical trials.
Purpose of the Study:
- To explore parent perceptions of important functional differences in children with DEEs.
- To identify functional changes that would guide parent participation in clinical trials.
- To inform the development of outcome measures for DEE clinical trials.
Main Methods:
- Descriptive qualitative study utilizing semi-structured interviews with 10 families of children with SCN2A-DEE.
- Interviews focused on four functional domains: gross motor, fine motor, communication, and activities of daily living.
- Directed content analysis was used to analyze qualitative data on perceived meaningful changes.
Main Results:
- Meaningful differences varied based on the child's developmental level and the type of clinical trial (traditional therapy vs. gene therapy).
- Parents described smaller developmental steps as meaningful for children with more limited skills.
- Meaningful changes were linked to improved quality of life and easier daily care for the child.
Conclusions:
- Meaningful change thresholds for DEEs remain unevaluated in existing literature.
- This qualitative study provides a preliminary foundation for future research.
- Future studies should aim to determine quantitative values for meaningful change to interpret clinical outcome assessments in DEE populations.
Purpose:
There are limited psychometric data on outcome measures for children with Developmental Epileptic Encephalopathies (DEEs), beyond measuring seizures, and no data to describe meaningful change. This study aimed to explore parent perceptions of important differences in functional abilities that would guide their participation in clinical trials.
Methods:
This was a descriptive qualitative study. Semi-structured one-on-one interviews were conducted with 10 families (15 parent participants) with a child with a SCN2A-DEE [8 male, median (range) age 7.5 (4.5-21)] years. Questions and probes sought to understand the child's functioning across four domains: gross motor, fine motor, communication, and activities of daily living. Additional probing questions sought to identify the smallest differences in the child's functioning for each domain that would be important to achieve, if enrolling in a traditional therapy clinical trial or in a gene therapy trial. Data were analyzed with directed content analysis.
Results:
Expressed meaningful differences appeared to describe smaller developmental steps for children with more limited developmental skills and more complex developmental steps for children with less limited skills and were different for different clinical trial scenarios. Individual meaningful changes were described as important for the child's quality of life and to facilitate day-to-day caring.
Conclusion:
Meaningful change thresholds have not been evaluated in the DEE literature. This study was a preliminary qualitative approach to inform future studies that will aim to determine quantitative values of change, applicable to groups and within-person, to inform interpretation of specific clinical outcome assessments in individuals with a DEE.
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