The Complex Interplay of Cortex, Cerebellum, and Age in a Cohort of Pediatric Patients With Tuberous Sclerosis Complex - 03/09/21
Abstract |
Background |
The neurodevelopmental impairment in tuberous sclerosis complex (TSC) has a multifactorial origin. Various factors have been proposed as predictors of neurological outcome such as tuber load, seizure onset, and TSC2 mutation. Cerebellar lesions have been associated with worse neuroradiological phenotype, but their contribution is not well understood.
Methods |
A partly retrospective and partly prospective pediatric cohort study was conducted at three hospitals in Greece between 2015 and 2020. Patients aged ≤ 18 years with a confirmed TSC daignosis were included and underwent brain imaging, a semistructured interview (authorized Greek version of the tuberous sclerosis-associated neuropsychiatric disorders, or TAND, checklist), and intellectual ability assessment.
Results |
The study populations consisted of 45 patients with TSC (22 females, 23 males; mean age 9.53 years). Twenty patients (44.4%) had cerebellar lesions. Cerebellar involvement was the most powerful predictor of tuber load (P = 0.03). Cerebellar lesions were associated with giant cell astrocytomas (SEGAs) (P = 0.01) and severe neurological outcome (P = 0.01). Even though in the univariate analysis early seizure onset, tuber load, and cerebellar involvement were associated with intellectual impairment and neurological severity, none of them was an independent predictor of cognitive outcome and neurological severity.
Conclusions |
Cerebellar lesions are common among individuals with TSC. Cerebellar involvement correlates with supratentorial derangement and the development of SEGAs, which is suggestive of a more severe clinical and neuroradiological phenotype. Cerebellar involvement and early seizure onset were not independent predictors of either neurological severity or intellectual disability or neurobehavioral outcome; their role in TSC clinical phenotype should be further investigated.
Le texte complet de cet article est disponible en PDF.Keywords : Tuberous sclerosis complex, Cerebellar lesions, Neurological outcome, Intellectual disability, Cortical tubers, Epilepsy
Plan
| Funding: This study did not receive any specific grant from funding agencies in public, commercial, or not-for-profit sectors. |
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| Conflict of Interest/Competing Interests: None to declare. |
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| Ethics Approval: This study was approved by the Greek Ministry of National Education, the National Educational Institute, and the Ethics Committee of the Aristotle University of Thessaloniki and was conducted in accordance with the 1964 Helsinki Declaration standards. |
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| Consent to Participate: Informed consent was obtained from the parents of all the participants. |
Vol 123
P. 43-49 - octobre 2021 Retour au numéro
Article précédent
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