The Kids Research Institute Australia logo
Donate

Discover Prevent Cure

Communication of individuals with CDKL5 deficiency disorder as observed by caregivers: A descriptive qualitative study

CDKL5 deficiency disorder (CDD) is a genetically caused developmental epileptic encephalopathy that causes severe communication impairments. Communication of individuals with CDD is not well understood in the literature and currently available measures are not well validated in this population. Accurate and sensitive measurement of the communication of individuals with CDD is important for understanding this condition, clinical practice, and upcoming interventional trials. 

Citation:
Keeley J, Benson-Goldberg S, Saldaris J, Lariviere J, Leonard H, Marsh ED, …… Jacoby P, Downs J. Communication of individuals with CDKL5 deficiency disorder as observed by caregivers: A descriptive qualitative study. Am J Med Genet Part A. 2024;194(7):e63570.

Keywords:
CDD; CDKL5 deficiency disorder; communication; descriptive qualitative

Abstract:
CDKL5 deficiency disorder (CDD) is a genetically caused developmental epileptic encephalopathy that causes severe communication impairments. Communication of individuals with CDD is not well understood in the literature and currently available measures are not well validated in this population. Accurate and sensitive measurement of the communication of individuals with CDD is important for understanding this condition, clinical practice, and upcoming interventional trials.