Neurobehavioral features in individuals with Kabuki syndrome.

ABSTRACT:

Background

Kabuki syndrome (KS) is a disorder characterized by multiple congenital anomalies affecting development and function of multiple systems. Over the years, researchers have attempted to characterize the neurobehavioral phenotype of KS in cohorts of patients enrolled on the basis of clinical assessment. The availability of molecular testing now allows for recruitment of patients with confirmed KS due to KMT2D and KDM6A.

Methods

The aims of the present study were to investigate the neuropsychological and behavioral profiles of individuals with molecularly confirmed diagnosis of KS, and determine the extent of heterogeneity occurring in these profiles between individuals with clinical diagnosis of KS with and without mutations in KMT2D. We also described performance of

SUBMITTER: Caciolo C 

PROVIDER: S-EPMC6014453 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature