Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Necker Enfants Malades Hospital, APHP, Paris Descartes University, Imagine Institute, Paris, France; Memory, Brain and Cognition (MC2Lab, EA 7536), Paris Descartes University, Paris, France; France Institute of Psychology, Paris Descartes University, Boulogne Billancourt, France.
Memory, Brain and Cognition (MC2Lab, EA 7536), Paris Descartes University, Paris, France; France Institute of Psychology, Paris Descartes University, Boulogne Billancourt, France.
Epilepsy Behav. 2019 Oct;99:106482. doi: 10.1016/j.yebeh.2019.106482. Epub 2019 Aug 25.
Executive functions (EF) are high-order cognitive skills that have a major influence on quality of life, social skills, and school achievement. We aimed to screen EF daily life abilities in young patients with myoclonic-atonic epilepsy (MAE) using an ecological questionnaire and to correlate EF to epilepsy characteristics.
Behavioral Rating Inventory of Executive Functions - Preschool (BRIEF-P) and BRIEF - for school-aged patients - parental questionnaires were proposed to patients with MAE and typically developing children (TDC) including Inhibit, Shift, Emotional control, Working memory (WM), Plan/Organize, Initiate, Organization of materials, and Monitor subscales. We included prospectively 12 patients with MAE and 44 TDC aged 3 to 5 years and seven patients with MAE and 21 TDC aged 6-7 years. We performed in addition for all patients an intellectual efficiency evaluation using WPPSI-IV (Wechsler intelligence scale for preschool children version IV) and collected demographics, age at onset of epilepsy, epilepsy duration, response to treatment, number and type of treatments including AEDs (antiepileptic drugs), and ketogenic diet.
Four out of 12 patients for BRIEF-P and 6/7 patients for BRIEF had pathological scores for at least one domain. Behavioral Rating Inventory of Executive Functions' questionnaires showed higher pathological scores for WM, Plan/Organize, Initiate, Monitor, and Metacognition Index in patients with MAE compared to TDC suggesting higher problems reported by parents. Working memory scores were higher in the group with MAE than TDC for both BRIEF-P and BRIEF. Response to treatment is a predictor of multiple BRIEF-P domains. Epilepsy duration predicts Shift and WM domains while age at onset predicts WM domain on BRIEF in this syndrome.
This study is the first to assess prospectively EF in young patients with MAE. We show everyday deficits in EF reported by parents. Metacognition and more specifically WM, appear to be a core deficit. Early evaluation of EF using both questionnaires and standardized tools is necessary for early detection of EF deficit and initiating tailored rehabilitation. Given the normal development before seizure onset and the absence of cerebral lesion in MAE, these results are in favor of the impact of epilepsy on EF.
执行功能（EF）是一种高阶认知技能，对生活质量、社交技能和学业成就有重大影响。我们旨在使用生态问卷筛查肌阵挛-失张力癫痫（MAE）年轻患者的日常生活执行功能，并将 EF 与癫痫特征相关联。
行为评定量表-学前版（BRIEF-P）和 BRIEF-适合学龄患者-家长问卷被提出给 MAE 患者和正常发育儿童（TDC），包括抑制、转换、情绪控制、工作记忆（WM）、计划/组织、启动、材料组织和监控子量表。我们前瞻性地纳入了 12 名 MAE 患者和 44 名 3-5 岁的 TDC，以及 7 名 MAE 患者和 21 名 6-7 岁的 TDC。我们还为所有患者进行了 WPPSI-IV（学前儿童韦氏智力测验第四版）的智力效率评估，并收集了人口统计学数据、癫痫发作年龄、癫痫持续时间、治疗反应、治疗次数和类型，包括抗癫痫药物（AEDs）和生酮饮食。
12 名患者中有 4 名在 BRIEF-P 中，7 名患者中有 6 名在 BRIEF 中至少有一个域的病理性评分。行为评定量表-执行功能问卷显示，与 TDC 相比，MAE 患者的 WM、计划/组织、启动、监控和元认知指数的病理性评分更高，提示家长报告的问题更多。与 TDC 相比，BRIEF-P 和 BRIEF 中 MAE 组的 WM 评分更高。治疗反应是多个 BRIEF-P 域的预测因子。癫痫持续时间预测转换和 WM 域，而发病年龄预测该综合征中 BRIEF 的 WM 域。
本研究首次前瞻性评估 MAE 年轻患者的 EF。我们显示出家长报告的 EF 日常缺陷。元认知，特别是 WM，似乎是一个核心缺陷。使用问卷和标准化工具早期评估 EF，对于早期发现 EF 缺陷并启动针对性康复非常必要。鉴于 MAE 发作前的正常发育和无脑部病变，这些结果支持癫痫对 EF 的影响。
