Department of Neurology, Children's Hospital of Fudan University, National Children's Medical Center, NO.399 Wanyuan Road, Minhang District, Shanghai, 201102, China.
Department of clinical Epidemiology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
BMC Pediatr. 2021 Oct 28;21(1):477. doi: 10.1186/s12887-021-02946-z.
The clinical features of KCNQ2-related disorders range from benign familial neonatal seizures 1 to early infantile epileptic encephalopathy 7. The genotype-phenotypic association is difficult to establish.
To explore potential factors in neonatal period that can predict the prognosis of neonates with KCNQ2-related disorder.
Infants with KCNQ2-related disorder were retrospectively enrolled in our study in Children's Hospital of Fudan University in China from Jan 2015 to Mar 2020. All infants were older than age of 12 months at time of follow-up, and assessed by Bayley Scales of Infant and Toddler Development-Third Edition (BSID-III) or Wechsler preschool and primary scale of intelligence-fourth edition (WPPSI-IV), then divided into three groups based on scores of BSID-III or WPPSI-IV: normal group, mild impairment group, encephalopathy group. We collected demographic variables, clinical characteristics, neuroimaging data. Considered variables include gender, gestational age, birth weight, age of the initial seizures, early interictal VEEG, variant location, delivery type. Variables predicting prognosis were identified using multivariate ordinal logistic regression analysis.
A total of 52 infants were selected in this study. Early interictal video-electro-encephalography (VEEG) (β = 2.77, 1.20 to 4.34, P = 0.001), and variant location (β = 2.77, 0.03 to 5.5, P = 0.048) were independent risk factors for prognosis. The worse the early interictal VEEG, the worse the prognosis. Patients with variants located in the pore-lining domain or S4 segment are more likely to have a poor prognosis.
The integration of early initial VEEG and variant location can predict prognosis. An individual whose KCNQ2 variant located in voltage sensor, the pore domain, with worse early initial VEEG background, often had an adverse outcome.
KCNQ2 相关疾病的临床特征从良性家族性新生儿癫痫 1 到早发性婴儿癫痫性脑病 7 不等。基因型-表型相关性难以确定。
探讨新生儿期的潜在因素，这些因素可预测 KCNQ2 相关疾病新生儿的预后。
在中国复旦大学附属儿科医院，我们回顾性招募了 2015 年 1 月至 2020 年 3 月期间患有 KCNQ2 相关疾病的婴儿。所有婴儿在随访时均大于 12 月龄，通过贝利婴幼儿发展量表第三版（BSID-III）或韦氏学龄前和小学智力量表第四版（WPPSI-IV）进行评估，然后根据 BSID-III 或 WPPSI-IV 的分数将他们分为三组：正常组、轻度障碍组、脑病组。我们收集了人口统计学变量、临床特征、神经影像学数据。考虑的变量包括性别、胎龄、出生体重、首次发作年龄、早期发作间期视频脑电图（VEEG）、变异位置、分娩方式。使用多元有序逻辑回归分析确定预测预后的变量。
本研究共纳入 52 例婴儿。早期发作间期视频脑电图（VEEG）（β=2.77，1.20 至 4.34，P=0.001）和变异位置（β=2.77，0.03 至 5.5，P=0.048）是预后的独立危险因素。早期发作间期 VEEG 越差，预后越差。位于孔衬域或 S4 段的变异体患者更有可能预后不良。
早期初始 VEEG 和变异位置的综合评估可以预测预后。位于电压传感器、孔域，早期初始 VEEG 背景较差的 KCNQ2 变异个体，往往预后不良。
