Abstract：
Rett syndrome is a rare, severe neurodevelopmental disorder. Almost all cases occur in girls, in association with spontaneous (non-inherited) mutations involving the methyl-CpG-binding protein 2 gene located on the X chromosome. Diagnostic criteria for typical Rett syndrome require a period of regression, followed by recovery or stabilization, and fulfillment of all four main criteria (loss of purposeful hand skills, loss of spoken language, gait abnormalities, and stereotypic hand movements). Our objective was to estimate the prevalence of Rett syndrome in the general population, stratified by sex.
We conducted a search of PubMed, Embase, Web of Science, Cochrane Library, LILACS, and LIVIVO to retrieve studies published in English between Jan. 1, 2000, and June 30, 2021. Pooled prevalence with a 95% confidence interval (CI) was estimated using a random-effects meta-analysis based on a generalized linear mixed model with a logit link.
Ten eligible studies were identified (all in females), with a combined sample size of 9.57 million women and 673 Rett syndrome cases. The pooled prevalence estimate (random effects) was 7.1 per 100,000 females (95% CI: 4.8, 10.5, heterogeneity p < 0.001). Despite greatly variable precision of estimation, all estimates were compatible with a prevalence range of approximately 5 to 10 cases per 100,000 females based on their respective 95% CIs.
These findings may facilitate planning of therapeutic trials in this indication in terms of target sample size and accrual times.
We conducted a search of PubMed, Embase, Web of Science, Cochrane Library, LILACS, and LIVIVO to retrieve studies published in English between Jan. 1, 2000, and June 30, 2021. Pooled prevalence with a 95% confidence interval (CI) was estimated using a random-effects meta-analysis based on a generalized linear mixed model with a logit link.
Ten eligible studies were identified (all in females), with a combined sample size of 9.57 million women and 673 Rett syndrome cases. The pooled prevalence estimate (random effects) was 7.1 per 100,000 females (95% CI: 4.8, 10.5, heterogeneity p < 0.001). Despite greatly variable precision of estimation, all estimates were compatible with a prevalence range of approximately 5 to 10 cases per 100,000 females based on their respective 95% CIs.
These findings may facilitate planning of therapeutic trials in this indication in terms of target sample size and accrual times.
摘要：
背景：Rett综合征是一种罕见的，严重的神经发育障碍.几乎所有病例都发生在女孩身上，与涉及位于X染色体上的甲基-CpG结合蛋白2基因的自发（非遗传）突变有关。典型Rett综合征的诊断标准需要一段时间的消退，然后恢复或稳定，以及满足所有四个主要标准(失去有目的的手技能，失去了口语，步态异常,和刻板的手部动作)。我们的目的是估计一般人群中Rett综合征的患病率，按性别分层。
方法：我们对PubMed进行了搜索，Embase,WebofScience,科克伦图书馆,LILACS,和LIVIVO检索1月之间以英语发表的研究2000年1月1日和2021年6月30日。使用基于具有logit链接的广义线性混合模型的随机效应荟萃分析来估计具有95％置信区间（CI）的合并患病率。
结果：确定了十项符合条件的研究（均为女性），合并样本量为957万女性和673例Rett综合征病例。合并患病率估计值（随机效应）为7.1/100,000女性（95％CI：4.8，10.5，异质性p<0.001）。尽管估计的精度变化很大，基于她们各自的95%CI,所有估计值与每100,000名女性约5~10例的患病率范围相一致.
结论：这些发现可能有助于在目标样本量和累积时间方面规划本适应症的治疗试验。
方法：我们对PubMed进行了搜索，Embase,WebofScience,科克伦图书馆,LILACS,和LIVIVO检索1月之间以英语发表的研究2000年1月1日和2021年6月30日。使用基于具有logit链接的广义线性混合模型的随机效应荟萃分析来估计具有95％置信区间（CI）的合并患病率。
结果：确定了十项符合条件的研究（均为女性），合并样本量为957万女性和673例Rett综合征病例。合并患病率估计值（随机效应）为7.1/100,000女性（95％CI：4.8，10.5，异质性p<0.001）。尽管估计的精度变化很大，基于她们各自的95%CI,所有估计值与每100,000名女性约5~10例的患病率范围相一致.
结论：这些发现可能有助于在目标样本量和累积时间方面规划本适应症的治疗试验。
