Objective: To evaluate the efficacy and safety of Globus Pallidus Internus deep brain stimulation (GPi-DBS) in children with different forms of monogenic dystonia operated by a Paediatric Neuromodulation Unit.

Background: In children with hereditary dystonia, clinical characteristics, time at surgery and the genetic etiology are important predictors of GPi-DBS efficacy.

Method: In seven paediatric patients with hereditary dystonia, bilateral directional electrodes were inserted in the GPi using a Leksell® Vantage™ stereotactic guide and electrophysiological recording. Electrodes were connected to the Vercise Genus™rechargeable generator. Accuracy of stimulating electrode placement was determined by CT/MRI fusion using Brainlab Elements Stereotaxy software. Patients were evaluated pre and post-surgery using clinical scales.

Results: DBS was performed at 13 [9-19] years, after 5 [2-10] years of dystonia onset. Patients diagnosis were isolated dystonia (TOR1A, GLB1 genes), myoclonus-dystonia (SGCE gene) and dystonia in combination with other neurological symptoms (GNAO1, ATP8A2 genes).  The mean error ± SD for electrode placement was X-axis 0.23 ± 0.61, Y-axis 0.6 ± 0.7 and Z-axis 0.18 ± 0.50. Stimulation parameters were 2.2 [1-3.3] milliamps, 60millisec, 130hertz. After 5 [1-10] months of follow-up, we observed an improvement on dystonia (67% BFM-motor;  28.5% BFM-disability) and myoclonus (87% UMRS) and thus, pharmacological treatment was reduced. In two patients, atrophic scar and scalp wound infection were satisfactory treated.

Conclusion: GPi-DBS was safe and effective in children with TOR1A, SGCE, GLB1 and GNAO1-hereditary dystonia. Our Pediatric Neuromodulation Units allowed an early intervention in these patients and an almost complete remission of symptoms in most genetic dystonia phenotypes.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/pallidal-stimulation-in-children-with-monogenic-dystonia/