The Complex Interplay of Cortex, Cerebellum, and Age in a Cohort of Pediatric Patients With Tuberous Sclerosis Complex.

Autor: Sidira C; 1st Paediatric Department, Developmental Centre 'A. Fokas', Aristotle University of Thessaloniki, 'Hippokration' General Hospital, Thessaloniki, Greece., Vargiami E; 1st Paediatric Department, Developmental Centre 'A. Fokas', Aristotle University of Thessaloniki, 'Hippokration' General Hospital, Thessaloniki, Greece., Anastasiou A; Department of Radiology, 'Hippokration' General Hospital, Thessaloniki, Greece., Talimtzi P; Department of Hygiene, Social-Preventive Medicine & Medical Statistics, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, Thessaloniki, Greece., Kyriazi M; 1st Paediatric Department, Developmental Centre 'A. Fokas', Aristotle University of Thessaloniki, 'Hippokration' General Hospital, Thessaloniki, Greece., Dragoumi P; 1st Paediatric Department, Developmental Centre 'A. Fokas', Aristotle University of Thessaloniki, 'Hippokration' General Hospital, Thessaloniki, Greece., Spanou M; 3(rd)Pediatric Department, National and Kapodistrian University of Athens, 'Attikon' University Hospital, Athens, Greece., Ntinopoulos A; 3(rd)Pediatric Department, National and Kapodistrian University of Athens, 'Attikon' University Hospital, Athens, Greece., Dalpa E; 4(th) Pediatric Department, Aristotle University of Thessaloniki, 'Papageorgiou' General Hospital, Thessaloniki, Greece., Evangeliou A; 4(th) Pediatric Department, Aristotle University of Thessaloniki, 'Papageorgiou' General Hospital, Thessaloniki, Greece., Zafeiriou DI; 1st Paediatric Department, Developmental Centre 'A. Fokas', Aristotle University of Thessaloniki, 'Hippokration' General Hospital, Thessaloniki, Greece. Electronic address: dizafeir@auth.gr.
Jazyk: angličtina
Zdroj: Pediatric neurology [Pediatr Neurol] 2021 Oct; Vol. 123, pp. 43-49. Date of Electronic Publication: 2021 Jun 26.
DOI: 10.1016/j.pediatrneurol.2021.06.009
Abstrakt: 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.
(Copyright © 2021 Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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