Struck Aaron F, Garcia-Ramos Camille, Prabhakaran Vivek, Nair Veena, Adluru Nagesh, Adluru Anusha, Almane Dace, Jones Jana E, Hermann Bruce P
Department of Neurology, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.
Department of Neurology, William S. Middleton Veterans Administration Hospital, Madison, Wisconsin, USA.
Epilepsia. 2025 May;66(5):1641-1651. doi: 10.1111/epi.18296. Epub 2025 Feb 17.
Juvenile myoclonic epilepsy (JME) is a prevalent genetic generalized epilepsy with linked abnormalities in cognition, behavior, and brain structure. Well recognized is the potential for advancing understanding of the epigenetic contributions to the neurobehavioral complications of JME, but to date there has been no examination of the role of socioeconomic disadvantage in regard to the cognitive and brain health of JME, which is the focus of this investigation.
Seventy-seven patients with JME and 44 unrelated controls underwent neuropsychological assessment, structural neuroimaging, and clinical interview to delineate epilepsy history and aspects of family status. The Area Deprivation Index characterized the presence and degree of neighborhood disadvantage, which was examined in relation to cognitive factor scores underlying a comprehensive neuropsychological test battery, academic metrics, integrity of brain structure, and family characteristics.
JME participants resided in neighborhoods associated with significantly more socioeconomic disadvantage, which was associated with significantly poorer performance across all three cognitive factor scores and reading fluency. JME was associated with significant reduction of total subcortical gray matter (GM) but not total cortical gray or white matter volumes. Among controls, participants residing in more advantaged areas exhibited increased volumes of total subcortical GM and diverse subcortical structures as well as areas of increased cortical thickness and volume in frontal/prefrontal regions, findings that were compromised or not evident in JME, raising the possibility of disease-related attenuation of socioeconomic advantage.
Socioeconomic disadvantage in JME is associated with adverse effects on cognitive and academic status, whereas socioeconomic advantage in controls is associated with increased brain volumes and thickness, markers of brain health that were largely attenuated or absent in JME. The associations detected here argue for the need to better integrate the social determinants of health with genetic and epigenetic factors in advancing understanding of cognitive and brain health in JME.
青少年肌阵挛性癫痫(JME)是一种常见的遗传性全身性癫痫,与认知、行为和脑结构异常有关。人们普遍认识到,深入了解表观遗传学对JME神经行为并发症的影响具有潜力,但迄今为止,尚未研究社会经济劣势在JME认知和脑健康方面的作用,而这正是本研究的重点。
77例JME患者和44名无关对照者接受了神经心理学评估、结构神经影像学检查和临床访谈,以明确癫痫病史和家庭状况。区域剥夺指数表征社区劣势的存在和程度,研究其与综合神经心理测试组中潜在的认知因子得分、学业指标、脑结构完整性和家庭特征的关系。
JME参与者居住在社会经济劣势明显更多的社区,这与所有三个认知因子得分和阅读流畅性方面的显著较差表现相关。JME与皮质下灰质(GM)总量显著减少有关,但与皮质灰质或白质总量无关。在对照组中,居住在更优越地区的参与者皮质下GM总量、多种皮质下结构以及额叶/前额叶区域皮质厚度和体积增加,这些发现在JME中受损或不明显,这增加了疾病相关的社会经济优势减弱的可能性。
JME中的社会经济劣势与对认知和学业状况的不利影响相关,而对照组中的社会经济优势与脑容量和厚度增加相关,这些脑健康指标在JME中大多减弱或不存在。此处检测到的关联表明,在推进对JME认知和脑健康的理解时,需要更好地将健康的社会决定因素与遗传和表观遗传因素结合起来。