Autism spectrum and obsessive-compulsive disorders: OC behaviors, phenotypes and genetics.
Autism spectrum and obsessive-compulsive disorders: OC behaviors, phenotypes and genetics.
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DOI：
10.1002/aur.108
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发表时间：
2009-12
期刊：
影响因子：
4.7
通讯作者：
Leckman, James F.
中科院分区：
文献类型：
--
作者：
Jacob, Suma;Landeros-Weisenberger, Angeli;Leckman, James F.
自闭症谱系障碍（ASDs）是一组在表型和病因上具有异质性的疾病，包括强迫行为（OCB），这些行为与强迫症（OCD）相关症状部分重叠。自闭症谱系障碍中出现的强迫行为因个体的心理年龄和实际年龄以及自闭症谱系障碍的病因不同而有所差异。尽管在测量与自闭症谱系障碍相关的强迫行为方面已经取得了进展，但还需要更多的工作，包括潜在地识别可遗传的内表型。同样，通过使用广泛的研究设计，包括双胞胎和家族遗传研究、参数和非参数连锁分析以及候选基因研究和罕见基因变异研究，对相关表型进行更精细的划分，在理解自闭症谱系障碍的遗传影响方面已经取得了重要进展。随着对更大样本的研究以及特定关联的重复验证，这些遗传分析可能会使强迫行为表型更加精确。与自闭症谱系障碍一样，强迫行为可能被证明是多维度和多基因的。一些易感基因可能被证明是影响自闭症谱系障碍和强迫症表型表达的通用基因，而其他基因则将特定于自闭症谱系障碍表型的子成分。为了发现分子和遗传机制，合作方法需要产生共享样本、资源、新的基因组技术，以及更精细的表型和创新的统计方法。越来越有必要确定与自闭症谱系障碍相关的强迫行为所涉及的分子途径范围，以便开发新的治疗干预措施。
Autism spectrum disorders (ASDs) are a phenotypically and etiologically heterogeneous set of disorders that include obsessive–compulsive behaviors (OCB) that partially overlap with symptoms associated with obsessive–compulsive disorder (OCD). The OCB seen in ASD vary depending on the individual’s mental and chronological age as well as the etiology of their ASD. Although progress has been made in the measurement of the OCB associated with ASD, more work is needed including the potential identification of heritable endophenotypes. Likewise, important progress toward the understanding of genetic influences in ASD has been made by greater refinement of relevant phenotypes using a broad range of study designs, including twin and family-genetic studies, parametric and nonparametric linkage analyses, as well as candidate gene studies and the study of rare genetic variants. These genetic analyses could lead to the refinement of the OCB phenotypes as larger samples are studied and specific associations are replicated. Like ASD, OCB are likely to prove to be multidimensional and polygenic. Some of the vulnerability genes may prove to be generalist genes influencing the phenotypic expression of both ASD and OCD while others will be specific to subcomponents of the ASD phenotype. In order to discover molecular and genetic mechanisms, collaborative approaches need to generate shared samples, resources, novel genomic technologies, as well as more refined phenotypes and innovative statistical approaches. There is a growing need to identify the range of molecular pathways involved in OCB related to ASD in order to develop novel treatment interventions.
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DOI：
10.1176/appi.ajp.2008.08020320
发表时间：
2008-12
期刊：
The American journal of psychiatry
影响因子：
--
作者：
Bloch MH;Landeros-Weisenberger A;Rosario MC;Pittenger C;Leckman JF
通讯作者：
Leckman JF
影响因子：
64.8
作者：
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通讯作者：
Scherer, Stephen W.
影响因子：
6.9
作者：
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通讯作者：
RUTTER, M
影响因子：
25
作者：
Aoyama, K;Suh, SW;Swanson, RA
通讯作者：
Swanson, RA
DOI：
10.1002/ajmg.b.30168
发表时间：
2005-05-05
影响因子：
2.8
作者：
Coon, H;Dunn, D;McMahon, W
通讯作者：
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