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Introduction: In adult patients with myoclonus dystonia (MD), cognitive deficits regarding information processing speed and executive functioning have been demonstrated, but it is unclear whether cognition is also affected in young MD patients. The present study investigates cognition in young MD patients and the role of an SGCE mutation., Methods: In this case control study 20 young MD patients (9 children (5.75-12.58 years) and 11 adolescents/young adults (13.5-25.42 years)) were included and compared to an age-, IQ- and gender-matched healthy control group (n = 40). Within the patient group, we compared patients with (n = 12) and without (n = 8) an SGCE mutation (SGCE+/-). All participants completed neuropsychological tests for memory, attention/processing speed, executive functioning, social cognition and language., Results: Overall, patients performed in the (low) average range, comparable to healthy controls. Only on a semantic fluency test, patients scored significantly lower. SGCE + patients had lower emotion recognition scores (a social cognition test) compared to SGCE-patients., Conclusion: We could not demonstrate cognitive deficits as found in adult MD patients in our younger group. Patients performed on the same level as healthy controls, with only a small difference in semantic fluency. We did not find executive deficits that were manifest in adult SGCE + patients, but we did find an association of an SGCE mutation and lower scores on a social cognition test. Similar to executive functioning, social cognition is a prefrontally regulated function, but had not been tested in adult MD. Hence, social cognition may precede executive problems in adulthood, suggesting growing into deficit., (Copyright © 2021. Published by Elsevier Ltd.)

Objectives: To systematically investigate the relationship between motor and non-motor symptoms, and health-related quality of life (HR-QoL) in children and young adults with dystonia., Methods: In this prospective observational cross-sectional study, 60 patients (6-25 years) with childhood-onset dystonia underwent a multidisciplinary assessment of dystonia severity (Burke-Fahn-Marsden Dystonia Rating Scale, Global Clinical Impression), motor function (Gross Motor Function Measure, Melbourne Assessment of Unilateral Upper Limb Function), pain (visual analogue scale), intelligence (Wechsler Intelligence Scale), executive functioning (Behavior Rating Inventory of Executive Function) and anxiety/depression (Child/Adult Behavior Checklist). Measures were analyzed using a principal component analysis and subsequent multiple regression to evaluate which components were associated with HR-QoL (Pediatric Quality of life Inventory) for total group, and non-lesional (primary) and lesional (secondary) subgroups., Results: Patients (29 non-lesional, 31 lesional dystonia) had a mean age of 13.6 ± 5.9 years. The principal component analysis revealed three components: 1) motor symptoms; 2) psychiatric and behavioral symptoms; and 3) pain. HR-QoL was associated with motor symptoms and psychiatric and behavioral symptoms (R 2  = 0.66) for the total sample and lesional dystonia, but in the non-lesional dystonia subgroup only with psychiatric and behavioral symptoms (R 2  = 0.51)., Conclusions: Non-motor symptoms are important for HR-QoL in childhood-onset dystonia. We suggest a multidisciplinary assessment of motor and non-motor symptoms to optimize individual patient management., (Copyright © 2018. Published by Elsevier Ltd.)

Introduction: Deep brain stimulation (DBS) has emerged as an effective treatment in medically intractable dystonia, with the globus pallidus internus (GPi) being most frequently targeted. Non-motor symptoms, including pain and psychiatric, cognitive and sleep disturbances, are increasingly recognized as important determinants of disease burden in dystonia patients. We reviewed non-motor outcomes of DBS in dystonia, focusing on GPi-DBS., Methods: A systematic literature search of Pubmed and Embase was performed according to the PRISMA guidelines., Results: Fifty-two studies were included. GPi-DBS reduced pain related to dystonia. No major effects on anxiety, mood, and cognition were found. In contrast to motor outcome, non-motor outcome seems more independent of the etiology of dystonia. However, the impact of potential confounders (e.g. patient factors, changes in pharmacological treatment) is unclear., Conclusion: Despite the growing interest in non-motor symptoms in dystonia, DBS studies still focus primarily on motor outcome. We recommend systematic evaluation of both non-motor and motor features before and after DBS interventions to improve quality of life and management of patients with dystonia., (Copyright © 2018. Published by Elsevier Ltd.)