Cortical Gyrification Is Associated With the Clinical Phenotype in Tuberous Sclerosis Complex

Tuberous sclerosis complex (TSC) is characterized by cortical tubers, determining cortical disarrangement and consequently drug-resistant epilepsy, intellectual disability, and TSC-associated neuropsychiatric disorders (TAND).

To establish whether gyrification index (GI), a software-based neuroradiological parameter, could be associated with the severity of phenotype in TSC, identifying the cortical regions that are more associated with the severity of the main clinical manifestations.

This was a retrospective cross-sectional study. Magnetic resonance imaging was acquired on a 1.5-T scanner. CAT12 toolbox was used for the estimation of GI. Data analysis was performed with Jamovi. The level of significance was set to P < 0.05 for all tests.

Forty-five patients with TSC and 42 healthy controls were included. Patients with TSC were characterized by higher total GI (P = 0.002) compared with healthy controls. Among patients with TSC, a higher total GI was associated with impaired neurological examination (P = 0.039), epilepsy (P = 0.017), intellectual disability (P = 0.013), TAND (P = 0.013), and higher number of cortical tubers (P < 0.001). An increased local GI in specific cortical areas was associated with TAND and autism spectrum disorders.

GI is a software-based neuroradiological parameter that could represent a reliable overall prognostic marker in TSC. Local GI can be used to identify phenotype-specific gyrification patterns allowing an early characterization of patients with TSC.