TY - JOUR
TI - The Complex Interplay of Cortex, Cerebellum, and Age in a Cohort of Pediatric Patients With Tuberous Sclerosis Complex
AU - Sidira, C.
AU - Vargiami, E.
AU - Anastasiou, A.
AU - Talimtzi, P.
AU - Kyriazi, M.
AU - Dragoumi, P.
AU - Spanou, M.
AU - Ntinopoulos, A.
AU - Dalpa, E.
AU - Evangeliou, A.
AU - Zafeiriou, D.I.
JO - Pediatric Neurology
PY - 2021
VL - 123
TODO - null
SP - 43-49
PB - ELSEVIER SCIENCE INC 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN - 0887-8994
TODO - 10.1016/j.pediatrneurol.2021.06.009
TODO - adolescent;  age;  Article;  brain cortex;  cerebellum;  cerebellum injury;  child;  clinical article;  clinical feature;  clinical outcome;  cohort analysis;  controlled study;  correlational study;  disease association;  disease severity;  female;  giant cell tumor;  human;  intellectual impairment;  intelligence;  male;  neuroimaging;  phenotype;  prospective study;  retrospective study;  seizure;  semi structured interview;  tuberous sclerosis;  age;  cerebellum disease;  complication;  epilepsy;  intellectual impairment;  pathology;  pathophysiology;  preschool child;  tuberous sclerosis, Adolescent;  Age Factors;  Cerebellar Diseases;  Cerebral Cortex;  Child;  Child, Preschool;  Epilepsy;  Female;  Humans;  Intellectual Disability;  Male;  Prospective Studies;  Retrospective Studies;  Tuberous Sclerosis
TODO - 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. © 2021 Elsevier Inc.
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