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

Autor: Trevisan N; Psychiatric Unit, Department of Neurosciences, University of Padua, Padua, Italy., Brunello F; Child Neurology and Neurophysiology Unit, Department of Woman's and Child's Health, University of Padua, Padua, Italy., Sambataro F; Psychiatric Unit, Department of Neurosciences, University of Padua, Padua, Italy., Biscalchin G; Child Neurology and Neurophysiology Unit, Department of Woman's and Child's Health, University of Padua, Padua, Italy., Nosadini M; Child Neurology and Neurophysiology Unit, Department of Woman's and Child's Health, University of Padua, Padua, Italy., Sartori S; Child Neurology and Neurophysiology Unit, Department of Woman's and Child's Health, University of Padua, Padua, Italy., Luisi C; Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Pelizza MF; Psychiatric Unit, Department of Neurosciences, University of Padua, Padua, Italy., Manara R; Neuroradiology Unit, Department of Neurosciences, University of Padova, Padova, Italy., Toldo I; Psychiatric Unit, Department of Neurosciences, University of Padua, Padua, Italy. Electronic address: irene.toldo@unipd.it.
Jazyk: angličtina
Zdroj: Pediatric neurology [Pediatr Neurol] 2024 Sep 19; Vol. 161, pp. 170-175. Date of Electronic Publication: 2024 Sep 19.
DOI: 10.1016/j.pediatrneurol.2024.09.012
Abstrakt: 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.
Competing Interests: Declaration of competing interest Irene Toldoa received payment or honoraria and travel fees from Jazz Pharmaceuticals.
(Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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