Objective: To compare the neuropsychological and behavioral profile of A) children and adolescents with myoclonus dystonia (MD) to a healthy control group and B) MD patients with and without a mutation on the SGCE gene (DYT11).

Background: Previous studies in SGCE+ MD patients have reported that executive dysfunctions and anxiety might be part of the MD phenotype, while depression might be secondary to the motor disorder. Therefore, the SGCE gene has been suggested to play a role in the dysfunction of the cortical-limbic striatal pathway. Based on this hypothesis, an impairment of cognitive functions relying on this pathway, such as executive functions and social cognition, could be expected. As MD often starts in childhood, the question remains whether executive dysfunctions and problems in social cognition and behavior can also be detected in MD children and whether these differ between SGCE+ and SGCE- children.

Methods: In fifteen MD children (10 boys, mean age 13y, range 5y9m-19y2m, 5 SGCE+, 10 SGCE-) and matched healthy peers (6 boys, mean age 12y9m, range 6y7m-17y8m) we assessed executive functioning (zoo map BADS), emotion recognition (FEEST-36) and behavioral problems (CBCL). Global clinical impression was used to describe the severity of the motor symptoms. MANOVA analysis was performed to analyze the data.

Results: In our sample MD children showed more difficulties with the recognition of surprise on the FEEST-36 in comparison to healthy peers (p < .05). Comparing the two patient groups, we found that SGCE+ MD patients recognized fewer pictures of surprise and sadness compared to SGCE- patients (p < .05). No executive dysfunctions were found. 33% of our patients (SGCE+ and SGCE-) had scores in the borderline or clinical range for depressive and obsessive compulsive problems. The MD severity did not influence any of the scores.

Conclusions: Our findings suggest a deficit in emotion recognition in SGCE+ MD patients. The executive dysfunction found in earlier research could not be replicated. This might indicate that executive dysfunction emerges gradually as patients mature. The behavioral problems found in our sample are depressive problems in both groups of MD, but no increased anxiety. Longitudinal studies are required to draw definite conclusions.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/cognitive-and-behavioral-problems-in-children-and-adolescents-with-myoclonus-dystonia/