Tuberous Sclerosis Complex Genotypes and Developmental Phenotype.

ABSTRACT:

Background

Children with tuberous sclerosis complex (TSC), caused by pathogenic variants in TSC1/TSC2, are at risk for intellectual disability. TSC2 pathogenic variants appear to increase the risk, compared with TSC1. However, the effect of TSC2 pathogenic variants on early and specific domains of development hasn't been studied. Using an extensively phenotyped group, we aimed to characterize differences in early intellectual development between genotypes.

Methods

The study group (n = 92) included participants with TSC enrolled in a multicenter study involving genetic testing and detailed prospective phenotyping including the Mullen Scales of Early Learning, a validated measure of cognition, language, and motor development in babies and preschool children. Mean T-scores at 2

SUBMITTER: Farach LS 

PROVIDER: S-EPMC6837240 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature