A developmental, longitudinal investigation of autism phenotypic profiles in fragile X syndrome.
A developmental, longitudinal investigation of autism phenotypic profiles in fragile X syndrome.
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DOI：
10.1186/s11689-016-9179-0
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发表时间：
2016
影响因子：
4.9
通讯作者：
Losh M
中科院分区：
文献类型：
--
作者：
Lee M;Martin GE;Berry-Kravis E;Losh M
针对神经遗传疾病中重叠的行为表型可以帮助阐明基因与行为的关系。脆性 X 综合征 (FXS) 和自闭症谱系障碍 (ASD) 已作为这种方法的模型进行了研究，并且表型重叠和分歧的重要领域已被记录。然而，很少有研究探讨 FXS 中 ASD 相关表型的表现如何随着发育而变化，这个问题对于概念化这些疾病及其组成表型的共同病因具有重要意义。本研究的目的是描述 FXS 男孩和女孩在整个发育过程中的 ASD 表型特征，并比较 FXS 男孩和特发性 ASD (ASD-O) 男孩随时间推移的个体组成表型。 65 名患有 FXS 的男孩和女孩以及 19 名患有 ASD-O 的男孩在两个时间点（平均相隔 2.5 年）完成了一系列诊断、认知和语言评估。非参数测试评估了 FXS 诊断分类随时间的变化，分层线性模型和重复测量评估了 FXS 中个体 ASD 症状随时间的变化。此外，ANCOVA 还比较了 FXS-O、FXS-ASD 和 ASD-O 男孩在两个时间点的 ASD 症状严重程度和组成表型。总体而言，FXS 儿童的自闭症谱系障碍 (ASD) 症状表现随着时间的推移显着增加，并且发育预测因子根据评估的症状范围而变化。在跨时间点的相互社交沟通领域，FXS-ASD 和 ASD-O 男孩之间观察到最大程度的重叠，而 ASD-O 男孩在稍后时间点的限制性和重复性行为方面表现出更大程度的损害。 FXS 中的 ASD 症状随着年龄的增长而增加，社交语言障碍成为 FXS 和 ASD 的潜在核心共同特征，这可能有助于阐明与表型变异相关的潜在分子遗传变异，并有助于针对表现出不同表型的儿童亚组制定干预计划。结果强调了发育视角（尤其是纵向数据）在评估跨遗传条件下共有的行为表型方面的价值，有助于深入了解与 ASD 和 FXS 关键发育表型相关的潜在认知、神经和遗传机制。
Targeting overlapping behavioral phenotypes in neurogenetic disorders can help elucidate gene-behavior relationships. Fragile X syndrome (FXS) and autism spectrum disorder (ASD) have been studied as a model for this approach, and important areas of phenotypic overlap and divergence have been documented. However, few studies have examined how the manifestation of ASD-related phenotypes in FXS may change over development, a question which has important implications for conceptualizing shared etiologies of these disorders and their constituent phenotypes. The goal of this study was to characterize ASD phenotypes in boys and girls with FXS across development, as well as to compare individual component phenotypes among boys with FXS and boys with idiopathic ASD (ASD-O) over time. Sixty-five boys and girls with FXS and 19 boys with ASD-O completed a battery of diagnostic, cognitive, and language assessments at two time points (mean 2.5 years apart). Nonparametric tests assessed changes in diagnostic classification in FXS over time, and hierarchical linear modeling and repeated measures assessed changes in individual ASD symptoms in FXS over time. Additionally, ANCOVAs compared ASD symptom severity and component phenotypes in boys with FXS-O, FXS-ASD, and ASD-O at both time points. Overall, ASD symptom manifestation for children with FXS significantly increased over time, and developmental predictors varied based on the domain of symptoms assessed. The greatest degree of overlap was observed between boys with FXS-ASD and ASD-O in the domain of reciprocal social communication across time points, whereas boys with ASD-O demonstrated greater impairment in restricted and repetitive behaviors at the later time point. ASD symptoms increased in FXS with age, and social language impairment emerged as a potential core shared feature of FXS and ASD that may help elucidate underlying molecular genetic variation related to phenotypic variance, and aid intervention planning for subgroups of children showing distinct phenotypes. Results highlight the value of a developmental perspective, and longitudinal data in particular, in evaluating shared behavioral phenotypes across genetic conditions, lending insight into underlying cognitive, neural, and genetic mechanisms associated with key developmental phenotypes in ASD and FXS.
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影响因子：
3.9
作者：
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通讯作者：
Piven, Joseph
DOI：
10.1097/00004703-200604002-00012
发表时间：
2006-04-01
影响因子：
2.4
作者：
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通讯作者：
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