PURPOSE To investigate walking ability in Japanese patients with Rett syndrome (RTT). METHODS Walking ability was assessed in 100 female Japanese patients with RTT using univariate and multivariate analysis in all age groups, and in patients over 10 years of age. We analyzed walking ability and confounding factors including prenatal-perinatal histories, developmental milestones, somatic and head growth, anthropometric data, body mass index, age of loss of purposeful hand use, age at onset of stereotypic hand movement, history of autistic behavior, age at regression, presence or absence of seizures, and the results of MECP2 genetic examination from the Japanese Rett syndrome database. RESULTS Univariate analysis revealed that acquisition of walking in all age groups was significantly correlated with the acquisition of meaningful words, microcephaly, and crawling (P < 0.0001, P = 0.005, P < 0.0001, respectively). Univariate analysis revealed that walking ability over 10 years of age was significantly correlated with acquisition of meaningful words, microcephaly, and body mass index (P < 0,0001, P = 0.005, P = 0.0018, respectively). MECP2 mutations R306C, R133C, and R294X were significantly associated with different acquisition of crawling (P = 0.004) and walking (P = 0.01). Multivariate analysis revealed that only acquisition of meaningful words was significantly correlated with walking ability over 10 years of age. This trend excluded the genetic effects of R306C, R133C, and R294X. CONCLUSIONS Meaningful word acquisition was robustly associated with walking ability over 10 years. Prognosis of walking ability may be predicted by the acquisition of meaningful words. This information is potentially useful for early intervention and the planning of comprehensive treatment for young children with RTT.

中文翻译：

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有意义的词汇习得与 Rett 综合征 10 年的步行能力有关

目的 调查日本雷特综合征 (RTT) 患者的步行能力。方法 使用单变量和多变量分析在所有年龄组和 10 岁以上的患者中评估了 100 名日本女性 RTT 患者的步行能力。我们分析了步行能力和混杂因素，包括产前-围产史、发育里程碑、躯体和头部生长、人体测量数据、体重指数、失去有目的的手部使用的年龄、刻板手部运动的开始年龄、自闭症行为史、年龄回归、有无癫痫发作，以及来自日本雷特综合征数据库的 MECP2 基因检测结果。结果 单变量分析显示，所有年龄组的步行习得与有意义词的习得显着相关，小头畸形，和爬行（分别为 P < 0.0001、P = 0.005、P < 0.0001）。单变量分析显示，10 岁以上的步行能力与获得有意义的单词、小头畸形和体重指数显着相关（分别为 P < 0,0001，P = 0.005，P = 0.0018）。MECP2 突变 R306C、R133C 和 R294X 与爬行 (P = 0.004) 和步行 (P = 0.01) 的不同习得显着相关。多变量分析显示，只有获得有意义的单词才与 10 岁以上的步行能力显着相关。这一趋势排除了 R306C、R133C 和 R294X 的遗传效应。结论 10 年来，有意义的词汇习得与步行能力密切相关。步行能力的预后可以通过获得有意义的词来预测。