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Rett Syndrome as a movement and motor disorder – A narrative review
European Journal of Paediatric Neurology ( IF 3.1 ) Pub Date : 2020-09-01 , DOI: 10.1016/j.ejpn.2020.06.020
Sara Brunetti 1 , Daniel E Lumsden 2
Affiliation  

Rett syndrome (RTT) is neurodevelopmental disorder affecting approximately 1:10000-15000 live female births, commonly associated with MECP2 gene mutations. Hand stereotypies and gait disturbance, as well as spasticity and dystonia, were noted in RTT since first descriptions. This review aimed to explore the prevalence of reported movement disorders in RTT. DATA SOURCES AND EXTRACTION Pubmed and Embase databases for papers describing features of movement disorders in RTT. Papers were selected if included description of case report, cohort or case-series of patients with RTT including descriptions of clinical features of their movement disorder. Papers were divided into 3 epochs - i) Pre-1999,ii) 2000-2009, and iii) 2010 onwards. RESULTS 32 studies (13 in the first, 10 in the second and 9 in the third epochs) reported on movement disorders in RTT. Hand stereotypies were almost universal, diminishing but not disappearing over time. Gait disturbance and ataxia/tremor were also very common (>50% cases). Hypertonia was also often reported, increasing with age. In earlier descriptions spasticity was commonly described, with greater reference to dystonia/rigidity in more recent reports. Myoclonus and choreoathetosis were uncommonly reported. CONCLUSIONS Movement disorders beyond hand stereotypies are common in RTT, most notably tremor. Hypertonia is frequently seen in RTT, increasing in prevalence with age, with apparent changes in nomenclature over time, (i.e early epoch spasticity, late epoch dystonia). Dystonia was specifically reported in 229/417 cases. Further work is required to explore the relative contribution of dystonia and rigidity to hypertonia in RTT, as well as the impact of these impairments when present.

中文翻译:

雷特综合征作为一种运动和运动障碍——叙述性评论

Rett 综合征 (RTT) 是一种神经发育障碍,影响大约 1:10000-15000 活产女性,通常与 MECP2 基因突变有关。自第一次描述以来,在 RTT 中注意到手的刻板印象和步态障碍,以及痉挛和肌张力障碍。本综述旨在探讨 RTT 中报告的运动障碍的患病率。数据源和提取 用于描述 RTT 中运动障碍特征的论文的 Pubmed 和 Embase 数据库。如果包括对 RTT 患者的病例报告、队列或病例系列的描述,包括对其运动障碍的临床特征的描述,则选择论文。论文分为 3 个时期 - i) 1999 年之前,ii) 2000-2009 和 iii) 2010 年以后。结果 32 项研究(第一阶段 13 项,第二阶段 10 项,第三阶段 9 项)报告了 RTT 中的运动障碍。手的刻板印象几乎是普遍的,随着时间的推移逐渐减少但并没有消失。步态障碍和共济失调/震颤也很常见(>50% 的病例)。高血压也经常被报道,随着年龄的增长而增加。在较早的描述中,通常描述了痉挛状态,在最近的报告中更多地提到了肌张力障碍/僵硬。肌阵挛和舞蹈手足徐动症的报道并不常见。结论 超越手刻板印象的运动障碍在 RTT 中很常见,最显着的是震颤。肌张力亢进在 RTT 中很常见,随着年龄的增长而增加,命名随着时间的推移出现明显变化(即早期痉挛,晚期肌张力障碍)。在 229/417 例中特别报告了肌张力障碍。需要进一步的工作来探索 RTT 中肌张力障碍和强直对肌张力亢进的相对贡献,
更新日期:2020-09-01
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