Characterizing Cognitive, Treatment, and Epilepsy Outcomes in a Sub-Population of Patients With Tuberous Sclerosis Complex and Spasms: Patients With Focal Seizures Preceding Spasms

Purpose: To characterize the cognitive outcomes, epilepsy, and treatment response, specifically to vigabatrin, of tuberous sclerosis complex (TSC) patients with focal seizures prior to the onset of infantile spasms (IS) or epileptic spasms (ES) compared with patients with spasm onset prior to other seizure types. Methods: The authors retrospectively reviewed the charts of 185 TSC patients with a history of IS or ES and epilepsy. Medical records were assessed for clinical information about gender, age of spasm onset, clinical descriptions, concomitant seizure type, age of concomitant seizure onset, treatment, treatment response, and genetic analyses. Results: Of the 541 patients with TSC, 185 were diagnosed with IS or ES. A subset of 14 patients received a diagnosis of focal seizure onset prior to spasms onset. A subset of 36 patients received a diagnosis of spasms onset prior to focal seizure onset. The records for 135 patients did not contain detailed documentation regarding the specific onset of spasms and/or focal seizures. Patients with focal seizure preceding spasm onset tend to have lower rates of normal IQ/cognition (7 vs 28%) and higher rates of intellectual disability (93 vs 72%) with a trend of more severe level of intellectual disability (moderate > mild/borderline/normal). They tend to have a less effective response to vigabatrin treatment of spasms (58 vs 82%). These patients also develop significantly higher rates of refractory epilepsy (77% vs 32%). Conclusions: Compared with TSC patients who present with spasm preceding focal seizure onset, patients with TSC who present with focal seizure preceding spasm onset tend to have more a more severe clinical profile with respect to neurocognitive outcome, response to vigabatrin, and development of refractory epilepsy.