Authors :
Presenting Author: Jenny Downs, PhD – The Kids Research Institute Australia; Curtin School of Allied Health
Jessica Keeley, PhD – The Kids Research Institute Australia
Peter Jacoby, PhD – The Kids Research Institute
Sofia Benson-Goldberg, PhD – University of Oregon
Sarah Pillar, PhD – The Kids Research Institute Australia
Andrea Miele, PhD – Children's Hospital Colorado
Helen Leonard, MBChB – The Kids Research Institute Australia
Jacinta Saldaris, PhD – The Kids Research Institute Australia
Eric Marsh, MD PhD – Children's Hospital of Philadelphia
Tim Benke, MD – Children’s Hospital Colorado
Scott Demarest, MD – Children's Hospital Colorado
Rationale:
CDKL5 deficiency disorder (CDD) is a developmental epileptic and encephalopathy characterised by early onset seizures, complex healthcare needs, and severe developmental impairments, that each influence functional abilities including communication. Communication is a high priority domain for families of people with CDD, but currently used measures demonstrate floor effects. Emerging disease-modifying trials necessitate the precise and granular measurement of communication to determine drug efficacy. This study evaluated a new measure of communication for CDD called the Communication Inventory Disability – Observer Reported (CID-OR).
Methods:
CID-OR was developed using a communication framework created from qualitative data1 and informed through evaluation of current measures and consultation with clinical experts. Scores for items describing communicative purpose were derived from ratings of consistency and the mode of delivery. An online survey was administered to parents of people with CDD (n=184) recruited from the International CDKL5 Clinical Research Network.2 Most caregivers (96%) also completed the Communication and Symbolic Behavior Scales - Developmental Profile Infant Toddler Checklist (CSBS–DP ITC), a measure of communication skills that typically develop before two years of age. A confirmatory factor analysis was conducted. Test-retest reliability and comparison of known groups were assessed using intraclass correlation coefficients and linear regression, respectively.
Results:
The median age for 184 individuals with CDD was 9.8 (1-43) years, the majority were female (81.5%), 25% were able to walk independently and two thirds (63%) took all food orally. A single factor model was evaluated. For 34 items, item loading, internal consistency and goodness-of-fit statistics were satisfactory, except for the Root Mean Square Error of Approximation statistic. The median CID-OR score was 22.5 out of a total possible score of 100 and no individual scored 0 points. The distribution of CID-OR scores was less right skewed than for CSBS-DP ITC scores although there was a high correlation between CID-OR and CSBS-DP ITC scores (r=0.89). Test-retest reliability was high (ICC 0.966).
Conclusions:
Preliminary analysis suggests that CID-OR is a reliable and valid measure of communication in CDD. This new tool has strong potential to measure responsiveness to interventions in CDD, and use may extend to similar developmental and epileptic encephalopathy conditions. There is further potential for CID-OR to be included as an outcome measure in clinical trials.
1: Keeley J, et al: Communication of individuals with CDKL5 deficiency disorder as observed by caregivers: A descriptive qualitative study. Am J Med Genet A 2024, 194:e63570.
2: Saldaris JM, et al: Psychometric evaluation of clinician- and caregiver-reported clinical severity assessments for individuals with CDKL5 deficiency disorder. Epilepsia 2024, 65:3064-3075.
Funding:
NIH/NINDS U01NS114312 (Benke/PD), International Foundation for CDKL5 Research.