Exploring the cognitive phenotype of Kabuki (Niikawa-Kuroki) syndrome.

ABSTRACT:

Background

Kabuki syndrome (KS) is a Mendelian disorder, characterised by short stature, facial dysmorphisms and developmental delay and/or intellectual disability. Clarification of the neurocognitive profile in KS may provide directions for education and treatment interventions for KS. Previous studies on cognitive functioning in KS are scarce and have mainly focused on the general level of intelligence. The few more extensive studies suggested weaknesses in language skills, visuoconstruction, perceptual reasoning and speed of information processing. Other relevant domains such as memory, executive functioning and social cognition have not been studied yet.

Method

This is the first study in which cognitive functioning within multiple domains is systematically explored in 29

SUBMITTER: van Dongen LCM 

PROVIDER: S-EPMC6850277 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature