Long-term cognitive outcomes in tuberous sclerosis complex.

ABSTRACT:

Aim

To investigate the interdependence between risk factors associated with long-term intellectual development in individuals with tuberous sclerosis complex (TSC).

Method

The Tuberous Sclerosis 2000 Study is a prospective longitudinal study of individuals with TSC. In phase 1 of the study, baseline measures of intellectual ability, epilepsy, cortical tuber load, and mutation were obtained for 125 children (63 females, 62 males; median age=39mo). In phase 2, at an average of 8 years later, intellectual abilities were estimated for 88 participants with TSC and 35 unaffected siblings. Structural equation modelling was used to determine the risk pathways from genetic mutation through to IQ at phase 2.

Results

Intellectual disability was present in 57% of individuals with

SUBMITTER: Tye C 

PROVIDER: S-EPMC7027810 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature