Department of Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic; Department of Nursing, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.
Department of Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.
Epilepsy Behav. 2023 May;142:109204. doi: 10.1016/j.yebeh.2023.109204. Epub 2023 Apr 21.
Idiopathic generalized epilepsy (IGE) is one of the most common epilepsies and is believed to have a strong genetic origin. Patients with IGE present largely heterogeneous neurocognitive profiles and might show some neurocognitive impairments. Furthermore, IGE siblings may demonstrate worse results in neuropsychological tests as well. In our study, we aimed to map the neurocognitive profile both in patients with IGE and the siblings. We also sought to establish a neurocognitive profile for each IGE syndrome.
The research sample included 110 subjects (IGE n = 46, biological siblings BS n = 16, and healthy controls n = 48) examined. Subjects were neuropsychologically examined in domains of intelligence, attention, memory, executive, and motor functions. The data obtained from the examination were statistically processed to determine whether and how IGE patients (including distinct syndromes) and the siblings differed neurocognitively from healthy controls (adjusted z-scores by age, education, and gender, and composite z-scores of cognitive domains). Data on anti-seizure medication, including defined daily doses, were obtained and included in the analysis.
IGE patients and their biological siblings performed significantly worse in most of the neuropsychological tests than healthy controls. The neurocognitive profile of composite z-scores showed that IGE and biological siblings had equally significantly impaired performance in executive functions. IGE group also demonstrated impaired composite attention and motor function scores. The profile of individual IGE syndromes showed that JAE, JME, and EGTCS had significantly worse performance in composite execution score and motor function score. JAE presented significantly worse performance in intelligence and attention. JME exhibited significantly worse composite score in the attention domain. Anti-seizure medication, depression, and quality of life were unrelated to cognitive performance in IGE group. The level of depression significantly predicted the overall value of quality of life in patients with IGE, while cognitive domains, sociodemographic, and clinical factors were unrelated.
Our study highlights the importance to consider the neurocognitive profile of IGE patients that can lead to difficulties in their education, acceptance, and management of coping strategies. Cognitive difficulties of IGE siblings could support a hypothesis that these impairments emerge from heritable traits.
特发性全面性癫痫(IGE)是最常见的癫痫之一,据信具有很强的遗传起源。IGE 患者表现出很大程度上异质的神经认知特征,并且可能表现出一些神经认知障碍。此外,IGE 患者的兄弟姐妹在神经心理学测试中也可能表现出更差的结果。在我们的研究中,我们旨在绘制 IGE 患者和兄弟姐妹的神经认知图谱。我们还试图为每个 IGE 综合征建立神经认知图谱。
研究样本包括 110 名受试者(IGE n=46,生物学兄弟姐妹 BS n=16,健康对照 n=48)。对受试者进行智力、注意力、记忆、执行和运动功能等领域的神经心理学检查。对检查获得的数据进行统计学处理,以确定 IGE 患者(包括不同的综合征)和兄弟姐妹在神经认知方面是否以及如何与健康对照组不同(按年龄、教育和性别调整 z 分数和认知域的综合 z 分数)。还获得了抗癫痫药物的数据,包括规定的日剂量,并纳入了分析。
IGE 患者及其生物学兄弟姐妹在大多数神经心理学测试中的表现明显差于健康对照组。综合 z 分数的神经认知图谱显示,IGE 和生物学兄弟姐妹在执行功能方面的表现同样明显受损。IGE 组还表现出注意力和运动功能综合得分受损。个别 IGE 综合征的图谱显示,JAE、JME 和 EGTCS 在执行综合评分和运动功能评分方面表现出明显更差的表现。JAE 在智力和注意力方面表现出明显更差的表现。JME 在注意力域表现出明显更差的综合得分。抗癫痫药物、抑郁和生活质量与 IGE 组的认知表现无关。抑郁水平显著预测了 IGE 患者总体生活质量值,而认知域、社会人口学和临床因素与生活质量无关。
我们的研究强调了考虑 IGE 患者神经认知特征的重要性,这可能导致他们在教育、接受和应对策略方面存在困难。IGE 患者兄弟姐妹的认知困难支持了这样一种假说,即这些损伤来自遗传特征。