Cognitive and neuro-psychiatric profile in adult patients with epilepsy secondary to Tuberous Sclerosis Complex

Tuberous Sclerosis Complex (TSC) is a neurocutaneous disorder associated with epilepsy (70-90% of cases) and neuropsychiatric symptoms (NPS). However, the influence of epilepsy on NPS remains unclear.

This study aimed to describe the presence of NPS in our cohort and to establish their relationship with epilepsy severity and other clinical characteristics (genetic, neuroimaging, and EEG findings).

Descriptive, cross-sectional, single-centre study of adults (18-65 years) with TSC, without significant intellectual disability. Patients underwent comprehensive neurological and neuropsychological assessment, which included cognitive, depression, and quality of life evaluations, alongside the TAND-checklist for NPS.

Twenty-eight patients with TSC were included (19 women, 44.7 ± 14.4 years). Seven patients had TSC1 variants and 11 had TSC2 variants. Nineteen (67.86 %) patients had epilepsy, 7(36.84 %) of them exhibiting drug-resistant epilepsy. Five (17.86 %) presented Infantile Spasms in the past. Regarding TAND-L, the most frequent NPS were: mood swings (80 %), excessive shyness (70 %), sleep/attention disorders (60 %) and low self-esteem (50 %). A longer duration of epilepsy and a higher number of anti-seizure medications (ASM) trials correlated with poorer total IQ -Intelligence Quotient- (Pearson correlation = -0.53, significant at 0.007 and -0.45, significant at 0.03, respectively). Patients carrying a TSC2 variant or with a history of Infantile Spasms had higher intellectual disability and worse TAND scores (p < 0.05). Despite the high prevalence of NPS, only 4(14.28 %) patients had received specific psychiatric care.

Patients with TSC and severe epilepsy showed worse neuropsychiatric outcomes. The high prevalence of NPS underscores the need for specific protocols for early detection and intervention.