Cortical Gyrification Is Associated With the Clinical Phenotype in Tuberous Sclerosis Complex - 26/11/24
Abstract |
Background |
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).
Aim of the study |
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.
Methods |
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.
Results |
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.
Conclusions |
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.
Le texte complet de cet article est disponible en PDF.Keywords : Tuberous sclerosis, Gyrification, Brain MRI, Neuropsychiatric disorders, Epilepsy
Plan
| Ethics approval and consent to participate: All procedures involving participants were carried out in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. |
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| Availability of data and material: The datasets used and/or analyzed during the current study (not included in this published article) are available from the corresponding author on reasonable request. |
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| Funding: The study was supported by a financial contribution from the Italian AST onlus (www.sclerosituberosa.org/). |
Vol 161
P. 170-175 - décembre 2024 Retour au numéro
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