Whilst up to 60% of males with fragile X syndrome (FXS) meet criteria for autism spectrum disorder (ASD), the prevalence and nature of ASD in females with FXS remains unclear. A systematic literature search identified papers reporting ASD prevalence and/or symptomatology in females with FXS. Meta-analysis suggested that rates of ASD for females with FXS are reliably higher than for females in the general population (a random effects model estimated weighted average prevalence at 14%, 95% CI 13–18%). Whilst papers highlighted a number of social and repetitive difficulties for females with FXS, characteristic profiles of impairment are not clear. Possible associations between ASD traits and IQ, and between ASD and levels of fragile X mental retardation protein, are suggested, but data are equivocal.

中文翻译：

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患有脆性 X 综合征的女性自闭症谱系障碍：患病率的系统评价和荟萃分析

虽然多达 60% 的脆性 X 综合征 (FXS) 男性符合自闭症谱系障碍 (ASD) 的标准，但 FXS 女性中 ASD 的患病率和性质仍不清楚。系统的文献搜索确定了报告 FXS 女性 ASD 患病率和/或症状的论文。荟萃分析表明，FXS 女性的 ASD 发生率确实高于一般人群中的女性（随机效应模型估计加权平均患病率为 14%，95% CI 13-18%）。虽然论文强调了患有 FXS 的女性的一些社交和重复困难，但障碍的特征特征尚不清楚。提出了 ASD 特征与智商之间以及 ASD 与脆性 X 智力低下蛋白水平之间可能存在的关联，但数据是模棱两可的。