31. Đặc điểm phát triển tâm thần - vận động và trí tuệ của trẻ em bị động kinh do bệnh xơ hoá củ

Abstract

Tuberous sclerosis complex (TSC) is a rare genetic disorder in which epilepsy is a common neurological manifestation and a major risk factor for neurodevelopmental disorders in children. This study aimed to describe the neurodevelopmental and intellectual characteristics, as well as associated factors, in 76 children diagnosed for TSC with epilepsy treated at the Vietnam National Children’s Hospital from October 2024 to May 2025. Children under 6 years of age were assessed for psychomotor development using the Denver II scale to calculate the Developmental Quotient (DQ), while children aged 6 years old and older were assessed for intelligence using the Raven to obtain the Intelligence Quotient (IQ). Results showed that 81.6% of children < 6 years old had a DQ < 70, and 81.1% of children ≥ 6 years old had an IQ < 70. Risk factors for moderate-to-severe developmental delay in children < 6 years old included comorbid psychiatric disorders, use of ≥ 2 antiepileptic drugs, refractory epilepsy, and seizure type variability. In the ≥ 6 years old group, moderate-to-severe intellectual disability was associated with early-onset epilepsy, drug-resistant epilepsy, and comorbid psychiatric disorders. These findings emphasize the high risk of neurodevelopmental and intellectual impairment in children with epilepsy in TSC, especially in those with early seizure onset, comorbid psychiatric disorder, and drug-resistant epilepsy. Early age-appropriate screening and multidisciplinary intervention are essential to improve long-term outcomes.