Long‐Term Globus Pallidus Internus Deep Brain Stimulation in Pediatric Non‐Degenerative Dystonia: A Cohort Study and a Meta‐Analysis

Abstract Background The evidence in the effectiveness of deep brain stimulation in children with medication‐refractory non‐degenerative monogenic dystonia is heterogeneous and long‐term results are sparse. Objectives The objective is to describe long‐term outcomes in a single‐center cohort and compare our results with a meta‐analysis cohort form literature. Methods We performed a retrospective single‐center cohort study including consecutive pediatric patients with non‐degenerative genetic or idiopathic dystonia treated with globus pallidus internus deep brain stimulation at our center and a systematic review and individual‐patient data meta‐analysis with the same inclusion criteria. The primary outcome was the change from baseline in the Burke‐Fahn‐Marsden Dystonia Rating Scale‐movement (BFMDRS‐M) score. Results The clinical cohort included 25 patients with a mean study follow‐up of 11.4 years. The meta‐analysis cohort included 224 patients with a mean follow‐up of 3 years. Overall, the BFMDRS‐M mean improvements at 1 year and at last follow‐up were 41% and 33% in the clinical cohort and 58.9% and 57.2% in the meta‐analysis cohort, respectively. TOR1A‐dystonia showed the greatest and most stable BFMDRS‐M improvement in both cohorts at 1 year and at last follow‐up (76.3% and 74.3% in the clinical cohort; 69.6% and 67.3% in the meta‐analysis cohort), followed by SGCE‐dystonia (63% and 63.9% in the meta‐analysis cohort). THAP1‐dystonia (70.1% and 29.8% in the clinical cohort; 52.3% and 42.0% in the meta‐analysis cohort) and KMT2B‐dystonia (33.3% and 41.3% in the clinical cohort; 38.0% and 26.7% in the meta‐analysis cohort) showed a less pronounced or sustained response. Conclusion Globus pallidus deep brain stimulation long‐term treatment seems effective with a possible gene‐specific differential effect. © 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.