Epilepsy and neurodevelopmental comorbidities in Tuberous Sclerosis Complex: A natural history study

Abstract Rationale We studied the natural history, genotype influence, and inter-relationship of epilepsy and neuropsychiatric disorders in Tuberous Sclerosis Complex (TSC). Methods Patients were identified using the Natural History Database (TSCNHD), the largest repository of longitudinally studied patients enrolled by the TSC Clinics consortium. Results A cohort of 1657 TSCNHD patients was analyzed. Eighty-eight percent patients (91% TSC2 vs. 82% TSC1; P=0.002) had epilepsy; TSC2 was more frequent with epilepsy onset less than 2 years of age (TSC2 82% vs. TSC1 54%; P Conclusions Epilepsy is associated with ID, and when epilepsy begins before the age of 2 years, the frequency and severity of ID is much higher. Epilepsy is also associated with autism and ADHD but not with anxiety and depression. Additional trials, blinded, prospective and adequately powered, will help clarify if early and effective treatment of epilepsy may also mitigate ID, autism and ADHD.