Identification of risk factors for autism spectrum disorders in tuberous sclerosis complex.

ABSTRACT:

Objective

The purpose of this study was to assess the prevalence of and to identify epidemiologic, genetic, electrophysiologic, and neuroanatomic risk factors for autism spectrum disorders (ASD) in a cohort of patients with tuberous sclerosis complex (TSC).

Methods

A total of 103 patients with TSC were evaluated for ASD. A retrospective review of patients' records was performed, including mutational analysis. EEG reports were analyzed for the presence of ictal and interictal epileptiform features. Brain MRI scans were evaluated for TSC neuropathology, including tuber burden.

Results

Of the 103 patients with TSC, 40%were diagnosed with an ASD. On univariate analysis, patients with ASD were less likely to have mutations in the TSC1 gene. Patients with ASD also had an ea

SUBMITTER: Numis AL 

PROVIDER: S-EPMC3271577 | biostudies-literature | 2011 Mar

REPOSITORIES: biostudies-literature