Authors :
Presenting Author: Jacinta Saldaris, PhD – Telethon Kids Institute
Jessica Keeley, BPsych(Hons) – Child Disability – Telethon Kids Institute; Sofia Benson-Goldberg, PhD – Department of Health Sciences, School of Medicine – University of North Carolina at Chapel Hill; Judy Lariviere, M.Ed, OTR/L – Assistive Tech 4 ALL; Helen Leonard, MBChB, MPH – Child Disability – Telethon Kids Institute; Eric Marsh, MD, PhD – Division of Neurology – Children’s Hospital of Philadelphia; Scott Demarest, MD – Paediatric Neurology – Children's Hospital Colorado; Tim Benke, MD, PhD – Paediatric Neurology – Children’s Hospital Colorado; Peter Jacoby, BA (Hons), MSc – Telethon Kids Institute; Jenny Downs, PhD – Child Disability – Telethon Kids Institute
Rationale:
CDKL5 deficiency disorder (CDD) is a developmental epileptic encephalopathy characterized by early onset seizures and significant global developmental delays. Although variation exists, communication skills of individuals with CDD are severely impaired.
Clinical trials are occurring that will evaluate novel therapeutics in CDD; however, the lack of validated outcome measures capable of demonstrating meaningful change may be a barrier to successful trials. The psychometric properties of the Communication and Symbolic Behavior Scales-Developmental Profile Infant-Toddler Checklist have been evaluated for people with CDD was found to have a significant floor effect. A better understanding of the quality and extent of communication in people with CDD is needed to inform the design of accurate and sensitive instruments. This study aimed to understand how people with CDD communicate, as observed by caregivers.
Methods:
We completed 23 semi-structured interviews with caregivers participating in the International CDKL5 Disorder Database across the range of child communication impairment. Interviews sought to elicit narratives that provided examples of their child’s communication. A conventional content analysis was conducted for exploration, description, and identification of unique concepts within the data. Coding was inductive and involved grouping concepts in the data into meaningful categories. Findings were discussed with a consumer reference group (N=9) which confirmed that the analysis reflected their experiences.
Results:
Three overarching categories were identified; mode (the mechanism through which the communication was produced), purpose (the intended reason) and meaning (the content of the message), and reciprocal exchanges (interpersonal interactions). Communication abilities within these categories were influenced by internal (e.g., seizures, cortical visual impairment) and external (e.g., medication) factors. Within these overarching categories, several novel sub-categories were discovered: (a) indicating awareness of social norms and expectations,
and (b) fostering social connections.
Conclusions:
This study demonstrates that communication skills of people with CDD are varied, with modes of communication ranging from subtle to more complex, and
used for multiple purposes and meanings. The results of this study will inform the development of a valid and reliable communication measure for people with CDD, which is anticipated to effectively measure the communication of others with developmental epileptic encephalopathy disorders.
Funding:
Source of Funding: NIH/NINDS U01NS114312 (Benke/PD), International Foundation of CDKL5 Research
IRB Approval: University of Western Australia (2019/RA/4/20/6198), University of Colorado (COMIRB 19-2756)