Intellectual disability and autistic behavior and their modifying factors in children with tuberous sclerosis complex

Abstract

Tuberous sclerosis complex (TSC) is classified among developmental epileptic encephalopathies, where epilepsy is often associated with comorbidities such as intellectual disability and autistic behavior. The recently introduced term TAND (TSC-associated neuropsychiatric disorders) encompasses the wide range of cognitive, behavioral, psychiatric, and psychosocial manifestations seen in TSC. The severity of these comorbidities is influenced by several factors, including the TSC1/TSC2 genotype, the age of epilepsy onset, the number, volume and type of cortical tubers, the interval between epilepsy onset and treatment initiation, and the presence of infantile spasms, hypsarrhythmia, or drug-resistant epilepsy. Clinical, genetic, EEG, and neuroimaging biomarkers enable the early identification of infants at high risk of developing intellectual disability or autism spectrum disorder. Early preventive intervention targeting seizures and tailored strategies during a sensitive developmental window may modify these contributing factors, leading to improved neurodevelopmental outcomes in infants with TSC.

Keywords: Epilepsy; Modifying factors of neurodevelopment; Tuberous sclerosis complex.