Neuropsychological outcomes in adults with tuberous sclerosis complex

Purpose: Tuberous sclerosis complex (TSC) is an autosomal-dominant genetic disorder and is a frequent cause of epilepsy and different degrees of neuropsychological impairements. The goal of this study was to assess cognitive outcome in patients with TSC and identify specific clinical variables correlated to neuropsychological profiles. Method: Out of 119 adult patients currently followed at Neurology IIEpilepsy Center, St Paolo Hospital in Milan, 84 individuals underwent to a complete neuropsychological evaluation. This battery included the following cognitive functions: intelligence, memory, attention, language and executive functions. Subjects were divided into three groups (normal cognition, mild delay, moderate-severe delay) according to results obtained from cognitive evaluation. Result: Of 84 enrolled patients (56 F, 28 M, mean age = 34.0), there were 31 (37%) subjects with normal cognition, 21 (25%) with mild delay and 32 (38%) with moderate-severe delay. 72 subjects (85%) had epilepsy, with mean age at onset of seizures of 3.9 years (ranged from 1 month to 48 years). 33 (46%) had a history of infantile spasms and 34 (47%) presented refractory epilepsy. 17 (20%) patients were diagnosed with TSC1 mutation, 49 (58%) with TSC2, 9 (11%) with no mutation and 9 (11%) are ongoing. Cognitive outcomes were correlated with age of epilepsy onset, history of infantile spasms, genetic analysis, refractory epilepsy and seizure frequency (p<0.05). Conclusion: Our data suggest that, in patients with TSC, the age at onset of epilepsy, history of infantile spams, seizure frequency and genetic mutation are predictive of cognitive function.