Molly Losh, Gary E Martin, Jessica Klusek, Abigail L Hogan-Brown
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引用次数: 0
摘要
有证据表明,自闭症有很强的遗传基础。我们的研究计划侧重于通过家族遗传学和跨人群方法,识别自闭症中具有遗传意义的表型,尤其是语言和社交表型,这些表型已被证明在自闭症患者家族中具有聚集性。在这篇文章中,我们将讨论最近的家族研究发现,这些研究发现特定的语言和性格特征是自闭症和脆性 X 综合征遗传易感性以及亲属中 FMR1 相关变异的标记。最后,我们将探讨这些发现的临床意义。
Pragmatic Language in autism and fragile X syndrome: Genetic and clinical applications.
Evidence suggests a strong genetic basis to autism. Our research program focuses on identifying genetically meaningful phenotypes in autism, through family-genetic and cross-population methods, with a particular focus on language and social phenotypes that have been shown to aggregate in families of individuals with autism. In this article, we discuss recent findings from family study research implicating particular language and personality features as markers for genetic liability to autism and fragile X syndrome and FMR1-related variation in relatives. We conclude with consideration of the clinical implications of such findings.