Neuropsychological profiles of patients with juvenile myoclonic epilepsy and their siblings: An extended study

Abstract

SUMMARYObjective: To examine executive function, intelligence, visuospatial skills, language, memory, attention, reaction time, anxiety, depression, and emotional and behavioral traits most frequently associated with executive dysfunction in patients with juvenile myoclonic epilepsy (JME) compared with a sibling and a normal control group under video-electroencephalography (video-EEG) conditions. Methods: Twenty-two sibling pairs, one with JME, were compared with 44 controls matched for age, gender, and educational level. All participants were administered a comprehensive set of neuropsychological and questionnaire measures during and without video-EEG recording. Results: The JME group differed significantly from controls in measures of phonemic and semantic verbal fluency. They scored significantly higher on the dysexecutive self-rating questionnaire, being more likely to report traits associated with executive dysfunction than both siblings and controls. Patients with JME reported significantly low mood than both controls and their siblings. Unaffected siblings differed significantly from controls on psychomotor speed, phonemic verbal fluency and were considered to exhibit traits associated with executive dysfunction by others. Qualitative inspection of data suggested a convincing trend for patients with JME and their siblings to perform worse than controls on most measures. Significance: This study supports the existence of a distinct neuropsychological profile among patients with JME and their siblings, which is likely to be genetically determined. The similarity of neuropsychological profiles between JME patients and their siblings is independent of antiepileptic drug effects or subclinical EEG activity. The significant differences between the sibling and controls suggests that there is a neurocognitive endophenotype for JME.

Patterns of Gray Matter Abnormalities in Idiopathic Generalized Epilepsy: A Meta-Analysis of Voxel-Based Morphology Studies

“…This area is associated with rational thinking process, and most notably active during the Stroop task [30]. Behavioral studies suggested that JME patients showed more errors in Stroop test [31,32], and atypical ACC was found to be partly correlated to these poor performance[33,34]. Collectively, the abnormalities of ACC reported in our study may be the potential structural explanation for these behavioral deficits.…”

Antiepileptic drug withdrawal in juvenile myoclonic epilepsy

“…Furthermore, it has been demonstrated that the neuropsychological deficits delineated in JME are present in otherwise healthy siblings as well. 30 Bearing in mind that frontal lobe dysfunction and risk-taking behavior may lead to psychosocial difficulties like drug abuse and criminal behavior, it is possible that such problems may be found to a greater extent in families affected by JME. 28,31 We find it remarkable that the single factor standing out as overrepresented in the self-withdrawal JME group was having a parent with psychosocial difficulties like addiction or violent behavior.…”

Paradigm Shifts in the Neuropsychology of Epilepsy

“…This bidirectional relationship has been reported for a variety of comorbid conditions including depression, suicidality, ASD, ADHD, psychosis, and schizophrenia (Lin, Mula, & Hermann, 2012). Not only are there shared susceptibilities between epilepsy and specific behavioral comorbidities, but of particular interest is evidence of co-aggregation of cognitive, behavioral, and even brain structural abnormalities in the siblings and parents of persons with epilepsy compared to general population controls (Alhusaini et al, 2015; Aronu & Iloeje, 2011; Badawy, Vogrin, Lai, & Cook, 2013; Chowdhury et al, 2014; Hesdorffer, Caplan, & Berg, 2012; Iqbal et al, 2015; Iqbal et al, 2009; Singhi, Bansal, Singhi, & Pershad, 1992; Tsai et al, 2013; Verrotti et al, 2013; Wandschneider et al, 2014; Wandschneider et al, 2010). These observations suggest the presence of distinct endophenotypes underlying epilepsy and some of its comorbidities, suggesting possible shared genetic mechanisms, although the influence of environmental factors remains to be clarified.…”