Objective: The aim of this study is to quantify DBS treatment outcome in patient with chilhood onset dystonia between the years 2014-2020.

Background: Deep brain stimulation (DBS) in the internal pale globe (Gpi) has been proposed as an effective treatment of patients with refractory dystonia.  Although DBS is an accepted treatment for childhood dystonia, there is significant heterogeneity in treatment response and few data are available to identify the best surgical candidates.

Method: Prospective analytical interventional cohort study. Dystonia severity was quantified using Burke-Fahn-Mardsen Dystonia Scale (BFMDRS), applying its 2 subscales: motor and disability. Dystonia severity was measured pre-DBS and 1, 3, and 6 months after DBS. All patients have video registration of each control.

Results: 14 patients were analyzed. All of them with bilateral Gpi DBS. 8 men, 6 women. Average age dystonia onset was 8.2 years. Etiologies: genetic primary dystonia 7 patients (1 DYT1, 1 DYT 5, 2 DYT 24, 1 DYT25, 1 DTDS, 1 mutation KMT2B gene); idiopathic primary dystonia 2 patients and secondary dystonia (2 PKAN, 1 Kernicterus, 2 late dystonia). Each patient was evaluated with BFMDRS scale pre-DBS and in controls of 1, 3 and 6 months. The average pre-DBS BFMDRS score was 71.5/21.42pts on motor/disability scales respectively. The average score in controls of 1, 3 and 6 months was 37.03/15.35pts, 30.75/12.41 and 29.45/11.7 respectively. The average improvement percentage was 66.89% on motor scales and 58.19% on disability scales. When we analyzed each group, the percentages of improvement were 72.68%/66.6% genetic primary dystonia, 69.68%/63.18% idiopathic primary dystonia and 59.94%/47.74% secondary dystonia. The median (p25-p75) of the motor BFMDRS score and disability at 6 months of control was significantly better than the median score obtained preDBS (p value <0.05). The group of genetic dystonia presented a statistically significant improvement at the control of 6 months in both subscales. The secondary dystonia group showed significant improvement in disability subscale. One patient (PKAN) received this therapy as a dystonic status treatment with good response.

Conclusion: Our study confirms the effectiveness of this therapy, especially in patients with primary genetic dystonia.

References: Bronte-Stewart H, Taira T, Valldeoriola F, Merello M, Marks WJ Jr, Albanese A, Bressman S, Moro E. Inclusion and exclusion criteria for DBS in dystonia. Mov Disord. 2011 Jun;26 Suppl 1:S5-16. Moro E, LeReun C, Krauss JK, Albanese A, Lin JP, Walleser Autiero S, Brionne TC, Vidailhet M. Efficacy of pallidal stimulation in isolated dystonia: a systematic review and meta-analysis. Eur J Neurol. 2017 Apr;24(4):552-560. Jinnah HA, Alterman R, Klein C, Krauss JK, Moro E, Vidailhet M, Raike R. Deep brain stimulation for dystonia: a novel perspective on the value of genetic testing. J Neural Transm 2017 Apr;124(4):417-430.

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