Investigation of risk factors for autism spectrum disorder in children with tuberous sclerosis complex

OBJECTIVE: Tuberous sclerosis complex (TSC) is a rare disease, and children with TSC are at certain risk for autism spectrum disorder (ASD). This study aims to recognize risk factors for TSC children with ASD by analyzing the clinical characteristics. METHODS: 171 TSC patients were retrospectively recruited, including 62 patients with ASD, and 109 without. All patients met the diagnostic criteria of TSC recommended in the International TSC Consortium in 2018. The diagnosis of ASD was based on the Diagnostic and Statistical Manual 5th Edition (DSM-5) and the Autism Diagnostic Scale (ADOS). RESULTS: There was no difference in age at diagnosis, number of unpigmented macules, seizure-free rate, effective rate of drug treatment, concordance of cranial MRI lesion and localization of electroencephalography (EEG) epileptiform discharges between TSC children with ASD and without ASD (p > 0.05). The region of the cranial MRI lesion and cardiac hamartoma might be risk factors of ASD in TSC patients(p = 0.04,p = 0. 013). CONCLUSIONS: Children with TSC exhibiting frontal lobe lesions or cardiac hamartomas are at a higher risk of developing ASD. CLINICAL TRIAL NUMBER: Not applicable.