Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu 84, Praha 5, 150 06, Czech Republic; 2nd Faculty of Medicine, Charles University, V Úvalu 84, Praha 5, 150 06, Czech Republic.
Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu 84, Praha 5, 150 06, Czech Republic.
Eur J Paediatr Neurol. 2018 Jul;22(4):632-641. doi: 10.1016/j.ejpn.2018.03.001. Epub 2018 Mar 15.
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).
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.
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.
Adverse mental and clinical outcome was associated with intractable epilepsy and the severe anatomical brain involvement; therefore, our centre developed a tailored protocol for early identification of TSC patients at a higher risk of developing intractable epilepsy with its deleterious effect on cognitive outcome.
我们旨在确定最初诊断为心脏横纹肌瘤（CR）的 TSC 患者队列中难治性癫痫、智力障碍（ID）和自闭症谱系障碍（ASD）的早期预测因子。
在十二年的时间里，我们前瞻性地获得了 22 名 TSC 患者（9 名女性，13 名男性）的临床、神经心理学、电生理学和神经影像学数据，这些患者在围产期被诊断为 CR，并在诊断时纳入研究。随后，我们通过统计学方法确定了与 ID、ASD 和难治性癫痫相关的变量。
严重癫痫（使用更多的抗癫痫药物）、MRI 上更多的发育不良病变以及 EEG 上的异常背景活动可预测 ID 的发生（p<0.05）。ASD 的预测因子包括早期发育迟缓、随访结束时 EEG 上的异常背景活动以及 MRI 上更多的发育不良区域（p<0.05）。难治性癫痫与 MRI 上更多的发育不良区域、ID 以及 TSC2 基因型有关。
不良的精神和临床结局与难治性癫痫和严重的脑结构异常有关；因此，我们中心制定了一项针对 TSC 患者的个体化方案，以早期识别具有认知结局不良风险的难治性癫痫患者。
