Psychosocial outcome in juvenile myoclonic epilepsy (Janz syndrome) and other genetic generalized epilepsies

Genetic generalized epilepsies (GGE) are often accompanied by neuropsychological deficits, mainly frontal dysfunctions and deficits in executive control but also behavioral abnormalities with high impact on individual social outcome. Systematic investigations were carried out on the social outcome and clinical factors that influence the individual course in different aspects of the patient’s life, especially in juvenile myoclonic epilepsy (JME), the most common and best studied GGE syndrome to date. This study aimed to describe the neuropsychological deficit profiles and their effects on the psychosocial outcome in JME in comparison with other GGE syndromes. Clinical predictors of individual psychosocial outcome were identified. Discussion of original work and reviews as well as expert opinions. The psychosocial outcome in GGE has been widely investigated focusing on the quality of life and major domains of social life. Syndrome-specific cognitive and behavioral characteristics in GGE—and in particular in JME—essentially determine the clinical and psychosocial outcome. Two main components impact the clinical and psychosocial outcome in JME: syndrome-specific features based on unalterable structural abnormalities of the brain and seizure-related sequelae. Evidence-based neuropsychological assessment can contribute significantly to avoid negative and irreversible social consequences and should be part of the diagnostic approach for patients with JME and other GGE syndromes. To keep seizure-related influences to a minimum, an appropriate and effective treatment of the epilepsy is mandatory as well as early recognition, treatment, and management of psychiatric symptoms.