Department of Pediatrics and Child Health, Kurume University School of Medicine, 67 Asahi-machi, Kurume, Fukuoka 830-0011, Japan.
Biostatistics Center, Kurume University, 67 Asahi-machi, Kurume, Fukuoka 830-0011, Japan.
Brain Dev. 2020 Nov;42(10):705-712. doi: 10.1016/j.braindev.2020.06.012. Epub 2020 Jul 17.
To investigate walking ability in Japanese patients with Rett syndrome (RTT).
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.
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.
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.
研究日本雷特综合征（RTT）患者的步行能力。
使用单变量和多变量分析评估了 100 名日本 RTT 女性患者的步行能力，包括所有年龄段以及 10 岁以上患者。我们分析了步行能力以及包括产前-围产期病史、发育里程碑、躯体和头部生长、人体测量数据、体重指数、丧失有意手使用年龄、刻板手运动发病年龄、自闭症行为史、退行年龄、是否有癫痫发作以及日本 RTT 数据库 MECP2 基因检查结果在内的混杂因素。
单变量分析显示，所有年龄段的行走能力获得与有意义词汇的获得、小头畸形和爬行显著相关（P<0.0001、P=0.005、P<0.0001，分别）。单变量分析显示，10 岁以上患者的步行能力与有意义词汇的获得、小头畸形和体重指数显著相关（P<0.0001、P=0.005、P=0.0018，分别）。MECP2 突变 R306C、R133C 和 R294X 与不同的爬行（P=0.004）和行走（P=0.01）获得显著相关。多变量分析显示，只有有意义词汇的获得与 10 岁以上的步行能力显著相关。该趋势排除了 R306C、R133C 和 R294X 的遗传影响。
有意义词汇的获得与 10 岁以上的步行能力显著相关。有意义词汇的获得可能预测步行能力的预后。这些信息对于早期干预和计划对 RTT 幼儿进行全面治疗具有潜在的用处。
