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患有脆性X综合征的年轻女孩的发育轨迹。

Developmental trajectories of young girls with fragile x syndrome.

作者信息

Hatton Deborah D, Wheeler Anne, Sideris John, Sullivan Kelly, Reichardt Alison, Roberts Jane, Clark Renee, Bailey Donald B

机构信息

University of North Carolina at Chapel Hill, USA.

出版信息

Am J Intellect Dev Disabil. 2009 May;114(3):161-71. doi: 10.1352/1944-7558-114.3.161.

Abstract

To describe the early phenotype of girls with full mutation fragile X, we used 54 observations of 15 girls between the ages of 6 months and 9 years to examine developmental trajectories as measured by the Battelle Development Inventory. In this sample, autistic behavior was associated with poorer developmental outcomes, primarily due to interactions of age with autistic behavior, even though autistic behavior, measured continuously, was relatively mild. Although this small sample, ascertained primarily through male relatives with fragile X syndrome, limits generalizability, considerable variability in developmental outcome in young girls was documented. In addition, findings support previous research suggesting that even mild autistic behaviors in girls can be associated with developmental outcomes.

摘要

为描述具有完全突变型脆性X染色体的女孩的早期表型,我们对15名年龄在6个月至9岁之间的女孩进行了54次观察,以通过贝利婴幼儿发育量表来检测发育轨迹。在这个样本中,自闭症行为与较差的发育结果相关,主要是由于年龄与自闭症行为之间的相互作用,尽管持续测量的自闭症行为相对较轻。尽管这个主要通过患有脆性X综合征的男性亲属确定的小样本限制了普遍性,但记录了年轻女孩发育结果的相当大的变异性。此外,研究结果支持了先前的研究,表明即使女孩中轻微的自闭症行为也可能与发育结果相关。

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