Abstracts

Rationale: Juvenile myoclonic epilepsy (JME) is the most common age-related idiopathic generalized epilepsy comprising 5-10% of all epilepsies. JME begins in puberty with the peak between 14 and 16 years. Poor social adjustment and behavioral disturbances, which resemble frontal lobe dysfunction, are often observed in JME. Recent studies demonstrate an elevated prevalence of psychiatric disorders in JME patients, particularly anxiety, mood, and mild to moderate cluster B personality disorders. In advanced brain imaging studies on JME patients, emotional and behavioral problems have been associated to subtle structural and functional alterations mainly in frontal cortex and thalamus. Morphological and functional abnormalities may extend beyond thalamo-cortical circuitry and involve cingulate, occipital and insular cortices as well as hippocampi and cerebellum. There is emerging evidence that patients with abnormal emotion processing and regulation, such as those with bipolar disorder, show disrupted connectivity between limbic structures and frontal cortices. We aimed to assess emotional recognition and social cognition in JME patients from multiple aspects through functional and structural assessment, which would potentially enable elaboration of a unifying concept explaining neurobiological background of disturbances in emotional processing, and social adjustment in JME patients. Methods: We recruited 45 patients with JME (median age 33 years, range 15-69; 26 women) and 45 age, sex, and education level-matched healthy controls. All participants underwent 1. The Structured Clinical Interviews for DSM-IV Axis I (SCID-I) and Axis II (SCID-II); 2. Neuropsychological test batteries and fMRI paradigms for assessment of emotion recognition and social cognition: a. NEmo (Networks of emotion processing), b. Empathy Quotient; c. IRI (Interpersonal Reactivity Index); d. Faux Pas test; f. Reading the mind in the eyes test; g. The fMRI paradigms consisted of “fearful faces” and “belief stories”. fMRI was performed on 3 Tesla Siemens scanner; group and region of interest (ROI) analysis was utilized. Results: None of the healthy controls and 35% (16/45) of JME patients had Axis I and Axis II disorders. Patients performed significantly worse in subtests of NEmo (simultaneous, prosody and viewing direction) and well as in the reading the mind in the eyes test. Patients had significant deficits compared to controls in the following domains of executive functions: phonemic word fluency, semantic word fluency, mental flexibility and mental processing speed. Patients and healthy controls did not differ in Interpersonal Reactivity Index. “Fearful faces” fMRI task revealed reduced BOLD (blood oxygen level dependent signal) in left amygdala, bilaterally in fusiform and occipital face areas as well as temporal poles bilaterally. In “Belief stories” fMRI paradigm deficient BOLD-signal was registered in patients compared to controls in left temporo-parietal junction, left amygdala and bilaterally in caudate nucleus. Conclusions: JME patients as opposed to healthy controls demonstrate significant deficits in emotion recognition and social cognition in both neuropsychological tests and fMRI tasks. Structural substrates, which might be related to these deficits, are left amygdala, left temporo-parietal junction, fusiform and occipital face areas, temporal poles and caudate nucleus bilaterally. Funding: This study has been supported by FWF (Fonds zur Förderung der wissenschaftlichen Forschung), Austrian Science Fund; Project number KLI 543 B-27.