Resting State Functional MRI to Find the Correct Surgical Target to Stop Seizures in Tuberous Sclerosis Complex

Tuberous sclerosis complex (TSC) occurs in 1/5800 live births, with a 1/20,000 population prevalence. Notably TSC patients experience severe morbidity: 90 percent have epilepsy, 55 percent have intellectual disability (ID), 20-50 percent have autism spectrum disorder (ASD), and 55 percent have neuropsychological deficits. Surgery leads to cure of epilepsy in 56 percent of patients with tuberous sclerosis complex (TSC). The number one factor in cure is correctly locating the area causing the seizures and then surgically destroying it. Thus far, three meta-analyses show technological advances in localization and surgical technique have not budged the 56 percent cure rate. Only one measure has produced results above current technology, resting state functional MRI (RS) whole-brain analysis. The following research has the goal of improving the surgical planning and outcomes for patients with TSC as well as identifying RS intrinsic functional connectivity (iFC) networks associated with comorbidities (i.e. autism spectrum disorder, language impairment, social cognition impairment, and intellectual disability. This multi-site investigation will utilize data from retrospective medical record chart review and prospective standard of care procedures within pediatric TSC patient populations at 3 study sites. At this time, study efforts have focused on regulatory, retrospective case identification and data extraction, prospective case enrollment, and data analysis pipeline development. There are not results to report at this time.