Deep Brain Stimulation in Children and Adolescents with ε-Sarcoglycan Myoclonus Dystonia Causes a Sustained Improvement in Motor Functionality and Quality of Life

Abstract

Estimulación cerebral profunda; Distonía mioclónica; Calidad de vida

Deep brain stimulation; Myoclonus dystonia; Quality of Life

Estimulació cerebral profunda; Distonia mioclònica; Qualitat de vida

Background Deep brain stimulation of the globus pallidus internus (DBS-GPi) has shown efficacy in adult patients with SGCE-related myoclonus dystonia. However, evidence regarding its impact in pediatric populations is limited. Objectives The aim was to evaluate motor and non-motor outcomes following DBS-GPi intervention in children and adolescents with SGCE-MD. Methods Ten patients (mean age 12.8 ± 3.4 years) underwent DBS-GPi. Blinded experts rated patients with the Unified Myoclonus, Burke-Fahn-Marsden, Writer's cramp and Gait Dystonia rating scales. Psychiatric and quality-of-life outcomes were evaluated using the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition criteria and Quality of Life in Neurological Disorders. Results Significant improvements were observed in myoclonus (68.1%), generalized dystonia (63.2%), and dystonia during writing (48.1%), walking (70.3%) and running (44.2%) after 3.8 ± 2.4 years of the surgery. Psychiatric symptoms remained stable, while quality-of-life assessments revealed reductions in anxiety, fatigue, and stigma (P < 0.05). Conclusions DBS-GPi in children with SGCE-myoclonus dystonia mitigates long-term disability, potentially enhancing academic, social, and professional prospects.

The authors declare no potential conflict of interest with the present work. This work was supported by Instituto de Salud Carlos III (grant numbers PI21/00248, PI24/01083, and FORT23/00034) and the Boston Scientific Corporation (grant number PR[AMI]481/2021). A.S.V. was supported by La Caixa Postgraduate Abroad fellowship. A.C.G. was supported by the Agency for Management of University and Research Grants, AGAUR (2022 FI_B 00996). A.M.G. is granted a postdoctoral contract funded by Instituto de Salud Carlos III (ISCIII) through the project FORT23/00034.