Category: Pediatric Movement Disorders
Objective: To evaluate the efficacy and safety of Globus Pallidus Internus DBS (GPi-DBS) in early stages of disease course.
Background: SGCE-related myoclonus-dystonia (SGCE-MD) is considered a benign condition in children. Most of the patients are not treated with DBS till adulthood after many years of disease duration. There are some case reports of DBS efficacy in children published, however large specific children cohorts have not been published.
Method: Eight children with SGCE-MD and moderate-to-severe impairment on fine and/or gross motor function were evaluated for DBS. Bilateral directional electrodes were implanted in the GPi using Leksell® Vantage stereotactic frame. Electrodes were connected to Vercise Genus rechargeable generator. Accuracy of stimulating electrode placement was determined by CT/MRI fusion using Brainlab Elements Stereotaxy software. Patients were evaluated prospectively using Burke-Fahn-Marsden (BFM) and Unified Myoclonus (UM) rating scales. Task-specific dystonia was assessed using Writer’s cramp (WC) and the newly developed Gait dystonia (GD) rating scales.
Results: DBS was performed at [mean±SD] 13±3 years, after 10±1.5 years of disease onset. The error for electrode placement was X-axis 0.46±0.38, Y-axis 0.73±0.53 and Z-axis 0.32±0.41. After 20 [3-60] months of follow-up, mean stimulation parameters were 2.6 [1.9-3.5] milliamps, 65[60-80] millisec, 130[120-200] hertz. We observed an improvement on: UMRS[71%, p=0.012], BFM-motor[70%, p=0.011], WCRS[58%; p=0.024], GDRS[78%; p=0.041]. NeuroQoL score changes were not significant. Oral drugs were withdrawn in all cases. Five cases were diagnosed with obsessive-compulsive disorder, generalised anxiety disorder, adaptive-depressive disorder and ADHD on pre-DBS assessment. DBS had a positive impact on psychiatric features. In three patients, two atrophic scars and one scalp wound infection were satisfactorily treated.
Conclusion: GPi-DBS in children with SGCE-MD was safe and effective. It significantly improved fine and gross motor skills, such as handwriting and gait, preventing motor sequela. Longitudinal studies are necessary to demonstrate whether early intervention improves motor and non-motor prognosis in the long-term.
To cite this abstract in AMA style:A. Salazar, M. Correa-Vela, M. González, L. Ispierto, J. Ferrero-Turrion, G. Español, A. Bescós, M. Tardáguila, B. Pérez-Dueñas. Early intervention with deep brain stimulation for children with ε-sarcoglycan myoclonus dystonia [abstract]. Mov Disord. 2022; 37 (suppl 2). https://www.mdsabstracts.org/abstract/early-intervention-with-deep-brain-stimulation-for-children-with-%ce%b5-sarcoglycan-myoclonus-dystonia/. Accessed September 28, 2023.
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MDS Abstracts - https://www.mdsabstracts.org/abstract/early-intervention-with-deep-brain-stimulation-for-children-with-%ce%b5-sarcoglycan-myoclonus-dystonia/