Emotion Recognition and Social Cognition in JME Patients

Juvenile myoclonic epilepsy (JME) is the most common age-related idiopathic generalized epilepsy with a high genetic predisposition, comprising 5-10% of all epilepsies. JME begins usually 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. These psychiatric disturbances contribute to non-compliance of JME patients with regard to intake of antiepileptic drugs and avoidance of trigger factors of seizures. Non-compliance frequently causes persistence of seizures and perpetual psychiatric problems leading to a vicious cycle. In recent 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. There are no neuroimaging or neuropsychological studies related to emotion processing in patients with JME with focus on limbic structures. There is an unmet need of understanding of pathophysiological mechanisms of emotion dysregulation which may predispose to behavioral disturbances and poor social adjustment in JME patients. We aim to address the problem of emotional disturbances and social adjustment in JME patients from multiple aspects through thorough functional and structural assessment which would potentially enable elaboration of an unifying concept explaining neurobiological background of disturbances in emotional processing and social adjustment in JME patients. This will be achieved by (i) employing novel neuropsychological test batteries and fMRI paradigms for assessment of emotion recognition and social cognition; (ii) utilizing novel techniques for macro- and microstructural evaluation of brain structures involved in emotion recognition and social cognition and their connections with other brain areas, particularly with frontal lobes; (iii) by comparing for a first time the results of functional and structural alterations in patients with newly diagnosed versus longstanding JME in order to determine causative relationship of possible functional / structural deficits with ongoing seizure activity; (iv) by comparing functional / structural data of JME patients with similar data of their siblings and healthy controls for ascertaining whether functional / structural alterations could be specific for JME. Results of this study may potentially enable developing of psychological and pharmacological interventional strategies for managing behavioral disturbances in patients with JME.

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