Department of Development and Regeneration, Section Pediatric Neurology, Catholic University of Leuven (KU Leuven), Leuven, Belgium.
Department of Neurology and Epileptology, The Children's Memorial Health Institute, Warsaw, Poland.
Epilepsia. 2021 May;62(5):1208-1219. doi: 10.1111/epi.16892. Epub 2021 Mar 29.
To study the association between timing and characteristics of the first electroencephalography (EEG) with epileptiform discharges (ED-EEG) and epilepsy and neurodevelopment at 24 months in infants with tuberous sclerosis complex (TSC).
Patients enrolled in the prospective Epileptogenesis in a genetic model of epilepsy - Tuberous sclerosis complex (EPISTOP) trial, had serial EEG monitoring until the age of 24 months. The timing and characteristics of the first ED-EEG were studied in relation to clinical outcome. Epilepsy-related outcomes were analyzed separately in a conventionally followed group (initiation of vigabatrin after seizure onset) and a preventive group (initiation of vigabatrin before seizures, but after appearance of interictal epileptiform discharges [IEDs]).
Eighty-three infants with TSC were enrolled at a median age of 28 days (interquartile range [IQR] 14-54). Seventy-nine of 83 patients (95%) developed epileptiform discharges at a median age of 77 days (IQR 23-111). Patients with a pathogenic TSC2 variant were significantly younger (P-value .009) at first ED-EEG and more frequently had multifocal IED (P-value .042) than patients with a pathogenic TSC1 variant. A younger age at first ED-EEG was significantly associated with lower cognitive (P-value .010), language (P-value .001), and motor (P-value .013) developmental quotients at 24 months. In the conventional group, 48 of 60 developed seizures. In this group, the presence of focal slowing on the first ED-EEG was predictive of earlier seizure onset (P-value .030). Earlier recording of epileptiform discharges (P-value .019), especially when multifocal (P-value .026) was associated with higher risk of drug-resistant epilepsy. In the preventive group, timing, distribution of IED, or focal slowing, was not associated with the epilepsy outcomes. However, when multifocal IEDs were present on the first ED-EEG, preventive treatment delayed the onset of seizures significantly (P-value <.001).
Early EEG findings help to identify TSC infants at risk of severe epilepsy and neurodevelopmental delay and those who may benefit from preventive treatment with vigabatrin.
研究婴儿结节性硬化症（TSC）患者首次出现癫痫样放电（ED-EEG）的脑电图（EEG）时间和特征与癫痫和 24 个月时神经发育的关系。
参加前瞻性遗传性癫痫发生模型-结节性硬化症（EPISTOP）试验的患者接受了长达 24 个月的脑电图监测。研究了首次 ED-EEG 的时间和特征与临床结果的关系。在常规随访组（癫痫发作后开始使用氨己烯酸）和预防组（发作前出现癫痫发作，但在出现间发性癫痫样放电 [IEDs] 后开始使用氨己烯酸）中分别分析了与癫痫相关的结局。
83 名 TSC 婴儿按中位数年龄 28 天（四分位距 [IQR] 14-54）入组。79 例 83 例患者（95%）在中位数年龄 77 天（IQR 23-111）时出现癫痫样放电。携带致病性 TSC2 变异的患者首次出现 ED-EEG 的年龄明显更小（P 值<.009），且更常出现多灶性 IED（P 值<.042），而携带致病性 TSC1 变异的患者则不然。首次 ED-EEG 年龄较小与 24 个月时较低的认知（P 值<.010）、语言（P 值<.001）和运动（P 值<.013）发育商显著相关。在常规组中，60 例中有 48 例发生癫痫。在该组中，首次 ED-EEG 上出现局灶性慢波与癫痫发作更早开始相关（P 值<.030）。更早记录到癫痫样放电（P 值<.019），尤其是多灶性放电（P 值<.026），与耐药性癫痫的风险更高相关。在预防组中，首次 ED-EEG 的时间、IED 的分布或局灶性慢波与癫痫结局无关。然而，当首次 ED-EEG 上出现多灶性 IED 时，预防治疗显著延迟了癫痫发作的发生（P 值<.001）。
早期脑电图发现有助于识别有严重癫痫和神经发育迟缓风险的 TSC 婴儿，以及可能从氨己烯酸预防性治疗中获益的婴儿。
