Deep developmental phenotyping in children with tuberous sclerosis complex, with and without autism.

ABSTRACT:

Aim

To characterize autism and co-occurring tuberous sclerosis-associated neuropsychiatric disorders (TAND) in children with tuberous sclerosis complex (TSC), addressing evidence gaps by using deep developmental phenotyping in a single cohort.

Method

This cohort study assessed autism characteristics, intelligence, adaptive function, language, and co-occurring conditions, using multidisciplinary direct assessment, in 50 children with TSC, comparing those with and without autism.

Results

Autistic children (28, 56%) had moderate mean scores for autistic characteristics (Autism Diagnostic Observation Schedule calibrated severity scores; social affect, 6.9 [standard deviation 2.5]; restricted and repetitive behaviour, 7.1 [standard deviation 2.3], but with considerable var

SUBMITTER: Mitchell RA 

PROVIDER: S-EPMC12336396 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature