Autism Spectrum Disorder Symptoms in Infants with Fragile X Syndrome: A Prospective Case Series.
Autism Spectrum Disorder Symptoms in Infants with Fragile X Syndrome: A Prospective Case Series.
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DOI：
10.1007/s10803-017-3081-9
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发表时间：
2017-06
影响因子：
3.9
通讯作者：
Roberts JE
中科院分区：
文献类型：
--
作者：
Hogan AL;Caravella KE;Ezell J;Rague L;Hills K;Roberts JE
迄今为止，还没有研究对脆性X染色体综合征（FXS）婴儿的早期自闭症谱系障碍（ASD）标志物进行前瞻性检查，这些婴儿患ASD的风险较高。本文描述了8例9 ~ 24月龄FXS患儿的发育特征。4个孩子在24个月大时符合ASD的诊断标准，4个不符合。这些案例研究的趋势表明，早期社会交际缺陷区分患有和没有后来的ASD诊断的婴儿的方式与自闭症儿童的晚出生的兄弟姐妹相似。所有FXS婴儿在整个发育过程中都存在重复行为、认知和适应性障碍，这表明这些缺陷反映了FXS的一般表型，而不是FXS特有的ASD。
No studies to date have prospectively examined early autism spectrum disorder (ASD) markers in infants with fragile X syndrome (FXS), who are at elevated risk for ASD. This paper describes the developmental profiles of eight infants with FXS from 9 to 24 months of age. Four meet diagnostic criteria for ASD at 24 months of age, and four do not. Trends in these case studies suggest that early social-communicative deficits differentiate infants with and without later ASD diagnoses in ways that are similar to later-born siblings of children with ASD. Repetitive behaviors and cognitive and adaptive impairments are present in all FXS infants throughout development, suggesting that these deficits reflect the general FXS phenotype and not ASD in FXS specifically.