Language
English
Publication Date
10-1-2024
Journal
Epilepsia
DOI
10.1111/epi.18094
PMID
39190322
PMCID
PMC11495992
PubMedCentral® Posted Date
10-1-2025
PubMedCentral® Full Text Version
Author MSS
Abstract
Objective: The CDKL5 Clinical Severity Assessment (CCSA) is a comprehensive, content-validated measurement tool capturing the diverse challenges of cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD), a genetically caused developmental epileptic encephalopathy (DEE). The CCSA is divided into clinician-reported (CCSA-Clinician) and caregiver-reported (CCSA-Caregiver) assessments. The aim of this study was to evaluate the factor structure of these measures through confirmatory factor analysis (CFA) and evaluate their validity and reliability.
Methods: Participants were recruited from the International CDKL5 Clinical Research Network to take part in an in-clinic CCSA-Clinician evaluation (n = 148) and/or complete the CCSA-Caregiver questionnaire (n = 198). CFA was used to determine domains, and factor loadings and validity were assessed. For the CCSA-Clinician, inter-rater reliability was assessed by nine CDD experienced clinicians via 14 pre-recorded evaluations. Eight clinicians re-viewed and re-scored the videos after 4 weeks to evaluate intra-rater reliability. The CCSA-Caregiver was completed on a second occasion by 34 caregivers after 2-4 weeks to assess test-retest reliability.
Results: CFA resulted in three domains for the CCSA-Clinician (motor and movement, communication, vision) and four domains for the CCSA-Caregiver (seizures, behavior, alertness, feeding), with good item loadings across both measures. Structural statistics, internal consistency, discriminant validity, and reliability were satisfactory for both measures, and scores were consistent between known groups.
Significance: This study provides strong evidence that the CCSA measures are suitable to assess the clinical severity of individuals with CDD, supporting their use in clinical trials. Further evaluation of responsiveness to change in a longitudinal assessment is planned. Use may also be appropriate in similar DEEs but would require validation in those populations.
Keywords
Adolescent, Child, Child, Preschool, Female, Humans, Infant, Infant, Newborn, Male, Caregivers, Child Behavior, Epileptic Syndromes, Physicians, Psychometrics, Reproducibility of Results, Severity of Illness Index, Spasms, Infantile, Surveys and Questionnaires, Developmental epileptic encephalopathy, Clinical outcome assessment, Confirmatory factor analysis, Validity, Reliability
Published Open-Access
yes
Recommended Citation
Saldaris, Jacinta M; Jacoby, Peter; Downs, Jenny; et al., "Psychometric Evaluation of Clinician- and Caregiver-Reported Clinical Severity Assessments for Individuals With CDKL5 Deficiency Disorder" (2024). Faculty and Staff Publications. 5937.
https://digitalcommons.library.tmc.edu/baylor_docs/5937