Psychometric Properties of a Quality of Life Measure for CDKL5 Deficiency Disorder: Establishing Readiness for Clinical Trials
Abstract number :
1.361
Submission category :
11. Behavior/Neuropsychology/Language / 11B. Pediatrics
Year :
2022
Submission ID :
2204424
Source :
www.aesnet.org
Presentation date :
12/3/2022 12:00:00 PM
Published date :
Nov 22, 2022, 05:24 AM
Authors :
Jacinta Saldaris, PhD – Telethon Kids Institute, Centre for Child Health Research; Helen Leonard, MBChB MPH – Telethon Kids; Peter Jacoby, MSc – Telethon Kids; Scott Demarest, MD – Children's Hospital of Colorado; Tim Benke, MD, PhD – Children's hospital of Colorado; Eric Marsh, MD, PhD – Children's Hospital of Philadelphia; Jenny Downs, PhD – Telethon Kids
Rationale: CDKL5 deficiency disorder (CDD) is a rare genetically caused developmental epileptic encephalopathy (DEE). Disability is severe and health fluctuates with refractory epilepsy and other comorbidities. Clinical trials for new medicines that could provide symptom relief or substantially change disease status (e.g., gene therapies) are imminent but few outcome measures for CDD with validation data exist. This study aimed to evaluate the psychometric properties of a quality of life measure developed for children with intellectual disability, the Quality of Life Inventory-Disability (QI-Disability), in CDD._x000D_
Methods: QI-Disability is a 32-item scale that comprises six domains: Social Interaction, Positive Emotions, Negative Emotions, Physical Health, Leisure and the Outdoors, and Independence. It was administered in 2018 to152 parent caregivers registered with the International CDKL5 Disorder Database (ICDD). To evaluate reliability a subset of parent caregivers (n=56) completed QI-Disability, as well as additional health related questions, on two occasions separated by four weeks during 2020 and 2021. Confirmatory factor analysis was conducted and the goodness of fit of the factor structure was assessed. Fixed-effects linear regression models examined responsiveness of QI-Disability to reported change in child health. Reliability was then assessed using intra-class correlations (ICCs) calculated from QI-Disability scores adjusted for changes in child health._x000D_
Results: Confirmatory factor analysis, convergent validity and divergent validity were mostly satisfactory, but divergent validity was not satisfactory for the Social Interactions and Independence domains. The Physical Health, Social Interactions, Leisure and Total scores responded to changes in the child’s Physical health, and the Negative Emotions and Leisure domains responded to changes in child behavior. Unadjusted and adjusted ICC values were above 0.8 for Positive Emotions, Negative Emotions, Social Interactions, Leisure, Independence domains and Total score, and above 0.6 for the Physical Health domain._x000D_
Conclusions: Findings suggest that QI-Disability is a valid measure of quality of life for children and adults with CDD. Non-seizure outcomes are important for health and wellbeing in individuals with DEEs and QI-Disability could be of value for upcoming clinical trials to measure quality of life._x000D_
Funding: NIH/NINDS U01NS114312 (Benke/PD)
Behavior