Child Neuropsychiatry Unit, Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
Child and Adolescent Neuropsychiatric Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.
Mov Disord. 2024 Jul;39(7):1131-1144. doi: 10.1002/mds.29815. Epub 2024 Apr 22.
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.
The objective is to describe long-term outcomes in a single-center cohort and compare our results with a meta-analysis cohort form literature.
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.
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.
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.
深部脑刺激在药物难治性非退行性单基因性肌张力障碍儿童中的有效性证据存在差异，且长期结果较为稀少。
本研究旨在描述单中心队列的长期结果，并将结果与文献中的荟萃分析队列进行比较。
我们进行了一项回顾性单中心队列研究，纳入了在我院接受苍白球内侧深部脑刺激治疗的非退行性遗传性或特发性肌张力障碍的连续儿科患者，并进行了一项系统评价和包含相同纳入标准的个体患者数据荟萃分析。主要结局是 Burke-Fahn-Marsden 肌张力障碍评定量表-运动分量表（BFMDRS-M）评分的基线变化。
临床队列包括 25 名患者，平均研究随访时间为 11.4 年。荟萃分析队列包括 224 名患者，平均随访时间为 3 年。总体而言，临床队列中 1 年和最后随访时 BFMDRS-M 的平均改善分别为 41%和 33%，荟萃分析队列中分别为 58.9%和 57.2%。TOR1A-肌张力障碍在两个队列中的 1 年和最后随访时的 BFMDRS-M 改善最大且最稳定（临床队列中分别为 76.3%和 74.3%；荟萃分析队列中分别为 69.6%和 67.3%），其次是 SGCE-肌张力障碍（荟萃分析队列中分别为 63%和 63.9%）。THAP1-肌张力障碍（临床队列中分别为 70.1%和 29.8%；荟萃分析队列中分别为 52.3%和 42.0%）和 KMT2B-肌张力障碍（临床队列中分别为 33.3%和 41.3%；荟萃分析队列中分别为 38.0%和 26.7%）的反应则不那么明显或持续。
苍白球深部脑刺激的长期治疗似乎是有效的，可能存在基因特异性的差异效应。© 2024 国际帕金森病和运动障碍学会。
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