Epilepsy and Molecular Phenotype Affect the Neurodevelopment of Pediatric Angelman Syndrome Patients in China.

ABSTRACT:

Objective

This study investigated the mental development of children with Angelman syndrome (AS) in China and evaluated the relationship between neurodevelopment and molecular subtype, age, epilepsy, and sex using the Chinese version of the Griffith Mental Development Scale (GMDS-C) to provide detailed baseline data regarding neurodevelopment with AS in China.

Methods

Participants were recruited from the AS Natural History Study. The GMDS-C was used to evaluate all participants' mental age and developmental quotients. The general quotient (GQ) and quotients of five subscales (sports, personal-social, auditory language, eye-hand coordination, and comprehensive performance) were calculated.

Results

A total of 119 children (average age: 42.12 months; range, 7.5-95.5 mont

SUBMITTER: Li S 

PROVIDER: S-EPMC9096167 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature