Prospective and detailed behavioral phenotyping in DDX3X syndrome.

ABSTRACT:

Background

DDX3X syndrome is a recently identified genetic disorder that accounts for 1-3% of cases of unexplained developmental delay and/or intellectual disability (ID) in females, and is associated with motor and language delays, and autism spectrum disorder (ASD). To date, the published phenotypic characterization of this syndrome has primarily relied on medical record review; in addition, the behavioral dimensions of the syndrome have not been fully explored.

Methods

We carried out multi-day, prospective, detailed phenotyping of DDX3X syndrome in 14 females and 1 male, focusing on behavioral, psychological, and neurological measures. Three participants in this cohort were previously reported with limited phenotype information and were re-evaluated for this study. We com

SUBMITTER: Tang L 

PROVIDER: S-EPMC8127248 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature