Shoulders, arms or the entire body twitch in the morning, especially if the night was short. People who are affected mildly often mistake this “twitching” for a manifestation of jittery nerves. It might, however, be caused by juvenile myoclonic epilepsy (JME). As the name suggests, JME occurs as early as adolescence – the first signs are usually observed between the ages of 12 and 18. Of the 80,000 people in Austria living with epilepsy, 5 to 10 percent are adolescents with JME. The spectrum ranges from mild to severe afflictions, the latter involving not only the muscle twitches (myoclonia) described above, but also “classic” seizures (grand mal seizures). Other frequent accompanying symptoms include psychiatric ailments such as personality disorders. Moreover, those affected show impairments in social cognition.
Functional and morphological description
The term social cognition refers to the way someone interprets information about a social reality. It comprises several sub-processes such as empathy, emotion regulation, emotion recognition, recognition of prosody and the “theory of mind”, as it is called in technical jargon. To give an example: if someone smiles at me and I am a healthy person, the smile would lead me to conclude that he or she is friendly towards me. “Imaging studies reveal that people with JME display changes in the frontal cortex and the limbic system, which are important for processing emotions and information,” says Julia Höfler from the University Hospital for Neurology in Salzburg, and she adds: “This means that people with JME have increased difficulties with their psychosocial behaviour, but no intellectual impairment. That has consequences for their private relationships as well as for their professional life.” Up until now, there has been no functional and morphological description of social cognition and emotion processing in JME. Julia Höfler and her colleague Giorgi Kuchukhidze have now closed this gap in a project funded by the Austrian Science Fund FWF.
Recruitment: challenging conditions
62 people diagnosed with JME, 17 siblings and 67 control subjects participated in the clinical trial. Recruitment was a challenge for the research team: “People with JME often have very complex personalities, and they have professional and private commitments. Since the project took up quite a big amount of time, we had to find ways to maintain motivation and also overcome compliance problems. But the study was a project very dear to our hearts and therefore we were prepared to go the extra mile,” explains Höfler. Despite the team’s valiant efforts, a certain bias could not be avoided: while people with severe JME are more difficult to reach, those with mild forms usually do not even pay visits to the clinic. That is why patients with very severe and those with very mild conditions are not fully represented.
Emotion recognition and perception
In the first part of the study, participants were shown pictures of faces whose emotions they were asked to recognise and label. “The performance of people with JME was significantly poorer, especially with respect to the emotion of fear.” In order to investigate the aspect of emotion perception, participants were placed in an MRI scanner and shown short film clips of frightened faces (e.g. Jodie Foster in “The Birds”). “In healthy people, the amygdala was activated bilaterally. In JME patients, it was significantly less active in comparison.”
Social cognition: theory of mind
The second part involved an investigation into the “theory of mind”. This refers to the ability to draw conclusions about the mental state of others based on their behaviour, intention, convictions and emotion. “This is a paradigm we explored,” says Höfler. After being read stories, the participants were asked to judge whether a certain situation in the story described socially acceptable behaviour or not. “People with JME were less likely to judge the situation correctly.” A similar approach was taken in the MRI scanner: participants were asked to judge whether a statement relating to a story they had previously read was true or false. Höfler: “Again, people with JME performed less well. And we were able to determine that important parts of the brain – the network connecting the temporal and parietal lobes – were less active than in the healthy individuals.”
Results confirm hypothesis
“The results confirm our hypothesis that people with JME exhibit deficits in emotion perception and recognition, as well as social cognition. These deficits were shown in neuropsychological examinations as well as in structural and functional imaging,” Julia Höfler says in summing up. In addition, the study showed a correlation between the duration of the disease and deficits in emotion recognition.
Development and enhancement of treatment
Psychotherapeutic interventions can be helpful in supporting people with JME. “This is why we have introduced the possibility for psychosomatic consultation for epilepsy patients at the hospital.” According to Höfler, the prospect of perhaps getting better treatment motivated many of those affected to take part in the study: “For many, it was the prospect that fellow sufferers might feel better in the future that motivated them to take part. The patients are appreciative of independent scientific studies.”
After studying medicine, Julia Höfler began training as a neurologist at the University Hospital for Neurology in Innsbruck in 2005. In 2010, she moved to Salzburg, where she currently works as a senior physician at the University Clinic for Neurology, Neurological Intensive Care Medicine and Neurorehabilitation. Höfler has meanwhile specialised in the treatment of people with epilepsy and in clinical research on this topic. In the course of the FWF project “Emotion Recognition and Social Cognition in JME Patients” (2016–2021), which received EUR 300,656 in funding and was led by the neurologist Eugen Trinka, Höfler has been working on imaging and neuropsychological investigations regarding the limbic system and emotion processing.
Kuchukhidze G., Höfler J., Kronbichler M., Schmid E. et al.: Emotion recognition and social cognition in juvenile myoclonic epilepsy, in: Zeitschrift für Epileptologie 2019