Neuropsychiatric disorders in Chinese pediatric tuberous sclerosis complex patients associated with drug-resistant epilepsy: A TAND checklist-based survey

Abstract

Tuberous sclerosis complex (TSC) is an autosomal-dominant genetic disorder frequently accompanied by neuropsychiatric disorders, especially in patients who have drug-resistant epilepsy (DRE). This study aimed to evaluate the distribution of neuropsychiatric disorders in Chinese children with TSC-related epilepsy using the TAND (Tuberous Sclerosis Complex Associated Neuropsychiatric Disorders) checklist, comparing those with DRE to those achieving seizure freedom. A total of 47 children, aged 6 to 18 years, diagnosed with TSC at Peking University People’s Hospital, participated in this cross-sectional study. All participants met the latest diagnostic criteria for TSC. Based on the definition of drug-resistant epilepsy, participants were categorized into DRE group and seizure-free group. Neurodevelopmental disorders were evaluated using the TAND checklist. The study found that 66 % of participants exhibited varying degrees of intellectual disability, with the DRE group demonstrating significantly poorer performance in intelligence, behavior, neuropsychological, and learning skills compared to the seizure-free group. The DRE group also had higher rates of attention-deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD), alongside greater impairments in psychosocial functioning. This study indicates that DRE is strongly associated with neuropsychiatric development in children with TSC, but also that all children with TSC are at increased risk of TAND. Our findings highlight the importance of regular assessment and intervention to support TAND and improve quality of life in this vulnerable group.