A single-center observational study on long-term neurodevelopmental outcomes in children with tuberous sclerosis complex.

ABSTRACT:

Background

Tuberous sclerosis complex (TSC) is a rare multisystem disorder caused by mutations in the TSC1 or TSC2 gene. More than 90% of patients with TSC develop neurological and/or neuropsychiatric manifestations. The aim of the present study was to determine the developmental and cognitive long-term outcomes of pediatric TSC patients.

Methods

This cross-sectional, monocenter study included pediatric TSC patients who received multidisciplinary long-term care with a last visit between 2005 and 2019. Neurological manifestations and cognitive development (BSID, K-ABC) were analyzed in relation to age and type of mutation.

Results

Thirty-five patients aged 13.5 ± 7.8 years were included in the study. Diagnosis was confirmed genetically in 65.7% of patients (TSC1, 26.1%

SUBMITTER: Mammadova D 

PROVIDER: S-EPMC10637019 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature