De Ridder Jessie, Kotulska Katarzyna, Curatolo Paolo, Jansen Anna C, Aronica Eleonora, Kwiatkowski David J, Jansen Floor E, Jóźwiak Sergiusz, Lagae Lieven
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.
Dev Med Child Neurol. 2022 Apr;64(4):495-501. doi: 10.1111/dmcn.15073. Epub 2021 Oct 2.
To describe the evolution of electroencephalogram (EEG) characteristics in infants with tuberous sclerosis complex (TSC) and the relationship with neurodevelopmental outcome at 24 months.
Eighty-three infants were enrolled in the EPISTOP trial and underwent serial EEG follow-up until the age of 24 months (males n=45, females n=37, median age at enrolment 28d, interquartile range 14-54d). Maturation of the EEG background and epileptiform discharges were compared between the TSC1 and TSC2 variants and between preventive and conventional groups respectively.
Children with TSC2 more frequently had a slower posterior dominant rhythm (PDR) at 24 months (51% vs 11%, p=0.002), a higher number of epileptiform foci (median=8 vs 4, p=0.003), and a lower fraction of EEGs without epileptiform discharges (18% vs 61%, p=0.001) at follow-up. A slower PDR at 24 months was significantly associated with lower cognitive (median=70 vs 80, p=0.028) and motor developmental quotients (median=70 vs 79, p=0.008). A higher fraction of EEGs without epileptiform discharges was associated with a lower probability of autism spectrum disorder symptoms (odds ratio=0.092, 95% confidence interval=0.009-0.912, p=0.042) and higher cognitive (p=0.004), language (p=0.002), and motor (p=0.001) developmental quotients at 24 months.
TSC2 is associated with more abnormal EEG characteristics compared to TSC1, which are predictive for neurodevelopmental outcome.
描述结节性硬化症（TSC）患儿脑电图（EEG）特征的演变及其与24个月时神经发育结局的关系。
83例婴儿参加了EPISTOP试验，并接受了系列EEG随访直至24个月龄（男性n = 45，女性n = 37，入组时中位年龄28天，四分位间距14 - 54天）。分别比较了TSC1和TSC2变异型之间以及预防组和传统组之间EEG背景的成熟情况和癫痫样放电情况。
TSC2患儿在24个月时更频繁地出现较慢的后头部优势节律（PDR）（51% 对11%，p = 0.002）、癫痫样病灶数量更多（中位数 = 8对4，p = 0.003）以及随访时无癫痫样放电的EEG比例更低（18% 对61%，p = 0.001）。24个月时较慢的PDR与较低的认知发育商（中位数 = 70对80，p = 0.028）和运动发育商（中位数 = 70对79，p = 0.008）显著相关。无癫痫样放电的EEG比例更高与24个月时自闭症谱系障碍症状的可能性更低（优势比 = 0.092，95%置信区间 = 0.009 - 0.912，p = 0.042）以及更高的认知（p = 0.004）、语言（p = 0.002）和运动（p = 0.001）发育商相关。
与TSC1相比，TSC2与更异常的EEG特征相关，这些特征可预测神经发育结局。
