脆性X综合征婴儿的自闭症谱系障碍症状：一项前瞻性病例系列研究
Autism Spectrum Disorder Symptoms in Infants with Fragile X Syndrome: A Prospective Case Series.
作者信息
Hogan Abigail L, Caravella Kelly E, Ezell Jordan, Rague Lisa, Hills Kimberly, Roberts Jane E
机构信息
Department of Psychology, University of South Carolina, 1512 Pendleton Street, Barnwell College, Suite 220, Columbia, SC, 29208, USA.
出版信息
J Autism Dev Disord. 2017 Jun;47(6):1628-1644. doi: 10.1007/s10803-017-3081-9.
Abstract
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.
摘要
迄今为止，尚无研究前瞻性地检测脆性X综合征（FXS）婴儿的早期自闭症谱系障碍（ASD）标志物，而FXS婴儿患ASD的风险较高。本文描述了8名9至24个月大的FXS婴儿的发育概况。其中4名在24个月大时符合ASD诊断标准，另外4名则不符合。这些案例研究中的趋势表明，早期社交沟通缺陷以类似于ASD患儿的晚出生兄弟姐妹的方式区分了后来被诊断为ASD和未被诊断为ASD的婴儿。在整个发育过程中，所有FXS婴儿都存在重复行为以及认知和适应性损伤，这表明这些缺陷反映的是一般的FXS表型，而非FXS特有的ASD。
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