Špecifiká vo vývine jednotlivca s genetickým ochorením CDKL5
Specifics in Development in an Individual with CDKL5 Genetic Disease
Author(s): Kristína Tkáčová, Barbora LakiSubject(s): Social Sciences, Education, Preschool education, School education, Inclusive Education / Inclusion
Published by: Vydavateľstvo Prešovskej univerzity v Prešove
Keywords: Rett syndrome; atypical form of Rett syndrome; CDKL5 gene mutation; neurodevelopmental disease; multiple disability;
Summary/Abstract: The subject of the presented paper is the issue of the development of an individual with anatypical form of Rett syndrome conditioned by a mutation of the CDKL5 gene. The paper focuses onthe description of specifics in the development of an individual due to the presence of said progressive neurodevelopmental disease. The theoretical basis is based on the description of the classical form of Rett syndrome with direct bridging to the atypical form conditioned by mutation of the CDKL5 gene.
Journal: Štúdie zo špeciálnej pedagogiky
- Issue Year: 12/2023
- Issue No: 1
- Page Range: 52-65
- Page Count: 14
- Language: Slovak
