期刊
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
卷 22, 期 4, 页码 632-641出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.ejpn.2018.03.001
关键词
Epilepsy; Intellectual disability; Tuberous sclerosis complex; Autism spectrum disorder; Prospective follow-up
资金
- European Community [602391 - EPISTOP]
- Charles University in Prague [134415]
- MH - CZ DRO University Hospital Motol, Prague, Czech Republic [00064203-6005]
- [CZ.2.16/3.1.00/2402]
Aim: We aimed to identify early predictors of intractable epilepsy, intellectual disability (ID) and autism spectrum disorders (ASD) in the cohort of TSC patients initially diagnosed with cardiac rhabdomyomas (CR). Method: Over the period of twelve years we prospectively obtained clinical, neuropsychological, electrophysiological and neuroimaging data in a group of 22 TSC patients (9 females, 13 males) with the pre/perinatal diagnosis of CR, included to the study at the time of diagnosis. Afterwards, we statistically determined variables associated with ID, ASD and intractable epilepsy. Results: Development of ID was predicted by severe epilepsy (a higher number of anti epileptic drugs used), a higher number of dysplastic lesions on MRI, and abnormal background activity on EEG (p < 0.05). Predictors of ASD included early developmental delay, abnormal background activity on EEG at the end of follow-up and a higher number of areas with dysplastic features on MRI (p < 0.05). Intractable epilepsy was associated with a higher number of areas with dysplastic features on MRI, ID and with TSC2 genotype. Conclusion: Adverse mental and clinical outcome was associated with intractable epilepsy and the severe anatomical brain involvement; therefore, our centre developed a tailoredprotocol for early identification of TSC patients at a higher risk of developing intractable epilepsy with its deleterious effect on cognitive outcome. (C) 2018 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
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