Cognitive and brain health in juvenile myoclonic epilepsy: Role of social determinants of health

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OBJECTIVE: 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. METHODS: 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. RESULTS: 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. SIGNIFICANCE: 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.

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