Borggraefe Ingo, Mehrkens Jan Hinnerk, Telegravciska Mila, Berweck Steffen, Bötzel Kai, Heinen Florian
Department of Pediatric Neurology and Developmental Medicine, Dr. von Hauner's Children's Hospital, Ludwig-Maximilians-University, Lindwurm Street 4, 80337 Munich, Germany.
Brain Dev. 2010 Mar;32(3):223-8. doi: 10.1016/j.braindev.2009.03.010. Epub 2009 Apr 28.
Primary generalized dystonia is a rare movement disorder. Medical treatment rarely relieves symptoms. The aim of this study was to investigate the efficacy and safety of bilateral pallidal stimulation in 6 children and adolescents with primary generalized dystonia. In addition, we strived to find predictors for treatment outcome by review and analysis of previously published studies.
Six patients with primary generalized dystonia underwent chronic bilateral stimulation of the globus pallidus internus. A PubMed and MEDLINE search was performed in order to identify children and adolescents who underwent deep brain stimulation for primary generalized dystonia. The primary efficacy endpoint was the relative change of the Burke-Fahn-Marsden-Dystonia-Rating-Scale (movement score) after surgery.
Forty-four patients were found to meet the inclusion criteria. The mean age at onset of the disease was 7.8+/-2.8years and the mean age at surgery was 14.2+/-3.5years. The mean Burke-Fahn-Marsden-Dystonia-Rating-Scale (movement score) was 56.9+/-22.7 before surgery and 23.7+/-23.2 at a mean follow up of 13.0+/-4.8months (p<0.001). The improvement in the DYT1-positive group was significantly higher compared to the DYT1-negative group (77%+/-24% and 44%+/-30%, respectively, p<0.001). A positive correlation between the movement score before and after surgery was found in both the DYT1-positive and DYT1-negative cohort (rs=0.624, p<0.001 and rs=0.734, p<0.001, respectively).
DBS is an effective treatment in children and adolescents with primary generalized dystonia. Predictive factors for a better treatment outcome are DYT1-positive status and minor motor impairment before surgery.
原发性全身性肌张力障碍是一种罕见的运动障碍。药物治疗很少能缓解症状。本研究的目的是调查双侧苍白球刺激对6例患有原发性全身性肌张力障碍的儿童和青少年的疗效和安全性。此外，我们通过回顾和分析先前发表的研究，努力寻找治疗结果的预测因素。
6例原发性全身性肌张力障碍患者接受了内侧苍白球的慢性双侧刺激。进行了PubMed和MEDLINE检索，以确定接受深部脑刺激治疗原发性全身性肌张力障碍的儿童和青少年。主要疗效终点是术后伯克-法恩-马斯登肌张力障碍评定量表（运动评分）的相对变化。
发现44例患者符合纳入标准。疾病发病的平均年龄为7.8±2.8岁，手术时的平均年龄为14.2±3.5岁。术前伯克-法恩-马斯登肌张力障碍评定量表（运动评分）的平均值为56.9±22.7，平均随访13.0±4.8个月时为23.7±23.2（p<0.001）。DYT1阳性组的改善明显高于DYT1阴性组（分别为77%±24%和44%±30%，p<0.001）。在DYT1阳性和DYT1阴性队列中，术前和术后的运动评分均呈正相关（分别为rs=0.624，p<0.001和rs=0.734，p<0.001）。
深部脑刺激对患有原发性全身性肌张力障碍的儿童和青少年是一种有效的治疗方法。治疗效果较好的预测因素是DYT1阳性状态和术前轻微运动障碍。
