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

Psychosoziales Outcome bei juveniler myoklonischer Epilepsie (Janz-Syndrom) und anderen genetisch generalisierten Epilepsien

  • Leitthema – 100 Jahre Dieter Janz
  • Published:
Zeitschrift für Epileptologie Aims and scope Submit manuscript

Abstract

Background

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.

Objectives

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.

Methods

Discussion of original work and reviews as well as expert opinions.

Results

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.

Conclusion

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.

Zusammenfassung

Hintergrund

Patienten mit genetisch generalisierten Epilepsien (GGE) weisen oft spezifische neuropsychologische Defizite auf, die das psychosoziale Outcome maßgeblich beeinflussen können. Hierzu gehören insbesondere frontale Dysfunktionen und Defizite der kognitiven Kontrolle sowie Störungen des Verhaltens. In systematischen Studien wurden soziale Aspekte sowie klinische Prädiktoren für das soziale Outcome bei Patienten mit juveniler myoklonischer Epilepsie (JME) untersucht, dem häufigsten und bisher am besten untersuchten GGE-Syndrom.

Fragestellung

Ziel der Arbeit war die Darstellung neuropsychologischer Defizitprofile und ihrer Auswirkungen auf das individuelle psychosoziale Outcome bei Patienten mit JME im Vergleich mit anderen GGE-Syndromen. Klinische Prädiktoren für das individuelle psychosoziale Outcome wurden identifiziert.

Material und Methode

Dazu wurden Original- und Übersichtsarbeiten sowie Expertenempfehlungen diskutiert.

Ergebnisse

Bisherige Untersuchungen zum psychosozialen Outcome bei Patienten mit GGE fokussierten auf wesentliche Aspekte des Soziallebens sowie auf die individuelle Lebensqualität. Syndromspezifische kognitive Charakteristika und Verhaltensmerkmale haben insbesondere bei JME wesentlichen Einfluss auf den klinischen und psychosozialen Verlauf. Hierbei spielen 2 wesentliche Komponenten eine entscheidende Rolle: zum einen syndromspezifische Merkmale, die auf strukturellen Veränderungen des Gehirns beruhen und nicht veränderbar sind, und zum anderen anfallsbedingte Folgeerscheinungen.

Schlussfolgerungen

Durch eine evidenzbasierte neuropsychologische Beurteilung können negative und möglicherweise irreversible soziale Auswirkungen für Patienten mit JME und anderen GGE-Syndromen verhindert werden. Um anfallsbedingte Einflüsse auf ein Minimum zu reduzieren, sollte neben der effektiven und frühzeitigen Behandlung der Epilepsie der Fokus maßgeblich auf psychiatrische Komorbiditäten gelegt werden.

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Acknowledgements

I gratefully acknowledge the assistance of Carol S. Camfield, Department of Pediatrics, Dalhousie University and the IWK Health Centre, Halifax, Nova Scotia, Canada.

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Authors and Affiliations

  1. Department of Neurology, Epilepsy Center, University Medicine Greifswald, Ferdinand-Sauerbruch-Straße 1, 17475, Greifswald, Germany

    Felix von Podewils MHBA

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  1. Felix von Podewils MHBA
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Correspondence to Felix von Podewils MHBA.

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Conflict of interest

F. von Podewils received honoraria from UCB Pharma, EISAI, and BIAL Pharma that were, however, not associated with this work.

For this article no studies with human participants or animals were performed by any of the authors. All studies performed were in accordance with the ethical standards indicated in each case.

Additional information

This article was written jointly with Carol S. Camfield, Department of Pediatrics, Dalhousie University and IWK Health Centre, Halifax, Nova Scotia, Canada.

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von Podewils, F. Psychosocial outcome in juvenile myoclonic epilepsy (Janz syndrome) and other genetic generalized epilepsies. Z. Epileptol. 33, 151–156 (2020). https://doi.org/10.1007/s10309-020-00318-8

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  • DOI: https://doi.org/10.1007/s10309-020-00318-8

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