German Clinical Trials Register

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Brief summary in lay language

Juvenile myoclonic epilepsy (JME) is a very common form of epilepsy with a high genetic predisposition. This form of epilepsy usually begins in puberty and poor social adjustments as well as behavioral difficulties are often observed in patients with JME. Recent brain imaging studies showed that such emotional and behavioral problems are associated with structural and functional alterations of certain brain areas. However, till now, there are no neuroimaging or neuropsychological studies related to emotion processing in patients with JME with focus on limbic structures. Thus, the aim of this study is so show possible changes in emotion processing and social cognition in patients with JME from multiple aspects by using structural and functional imaging methods as well as neuropsychological and psychiatric examinations. In order to identify possible differences, the results of JME patients will be compared with the results of healthy controls as well as siblings of patients with JME. Further, newly diagnosed patients will be compared to patients who have a long-standing course of the disease. Results of this study may help to develop new psychological and pharmacological intervention strategies and further lead to a better management of social and behavioral difficulties in patients with JME.

Brief summary in scientific language

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 incompliance of JME patients with regard to intake of antiepileptic drugs and avoidance of trigger factors of seizures. Incompliance frequently causes persistence of seizures and perpetual psychiatric problems leading to a vicious circle. 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.