Developmental trajectories as autism phenotypes.
Developmental trajectories as autism phenotypes.
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DOI：
10.1002/ajmg.c.31440
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发表时间：
2015-06
期刊：
影响因子：
--
通讯作者：
Anderson D
中科院分区：
文献类型：
--
作者：
Lord C;Bishop S;Anderson D
许多关于ASD的研究试图将行为表型与基因发现联系起来，但对跨越广泛年龄范围的样本中横断面行为数据的依赖可能限制了这一努力，因为ASD行为在个体发育过程中并不是一成不变的。这项研究使用定量方法来描述ASD相关和更一般行为变化的具体方面，以便产生轨迹，这些轨迹可以取代单一时间点数据作为ASD和其他重叠条件的神经生物学研究中的行为表型。在之前分析的基础上，我们检查了父母报告的社交沟通缺陷、社会适应功能和两种类型的重复行为的轨迹，重复感觉运动(RSM)行为和坚持相同(IS)行为，在相对较大的样本中被转介为可能患有自闭症的参与者，并在2岁时跟踪到青年(n=85)。这一样本的优势是结果的多样性，包括患有智力残疾和持续性自闭症相关困难的年轻人，那些智商处于边缘或平均范围的人继续经历与自闭症相关的功能障碍，以及一小部分智商在平均范围内的年轻人(n=8)，他们在19岁时被判断为在典型的年龄适当水平发挥功能，尽管儿童时期曾被诊断为自闭症。
Numerous studies of ASD have attempted to link behavioral phenotypes to genetic findings, but reliance on cross-sectional behavioral data in samples that span wide age ranges may have limited this endeavor because ASD behaviors are not static within individuals across development. This study uses quantitative methods to describe specific aspects of changes in ASD-related and more general behaviors in order to yield trajectories that could be used in place of single time-point data as behavioral phenotypes in neurobiological studies of both ASD and other overlapping conditions. Building on previous analyses, we examined trajectories of parent-reported social-communication deficits, social adaptive functioning, and two types of repetitive behaviors, repetitive sensory motor (RSM) behaviors and insistence on sameness (IS) behaviors, in a relatively large sample of participants referred for possible autism at age 2 years and followed into young adulthood (n=85). A strength of this sample was the diverse range of outcomes, including young adults with intellectual disability and persistent ASD related difficulties, those with IQs in the borderline or average range who continued to experience functional impairment related to ASD, and a small group of young adults (n=8) with IQs in the average range who were judged to be functioning at typical age appropriate levels at age 19 years, despite a previous childhood diagnosis of ASD.