Jones W, Bellugi U, Lai Z, Chiles M, Reilly J, Lincoln A, Adolphs R
The Salk Institute for Biological Studies, La Jolla, CA 92037, USA.
J Cogn Neurosci. 2000;12 Suppl 1:30-46. doi: 10.1162/089892900561968.
Studies of abnormal populations provide a rare opportunity for examining relationships between cognition, genotype and brain neurobiology, permitting comparisons across these different levels of analysis. In our studies, we investigate individuals with a rare, genetically based disorder called Williams syndrome (WMS) to draw links among these levels. A critical component of such a cross-domain undertaking is the clear delineation of the phenotype of the disorder in question. Of special interest in this paper is a relatively unexplored unusual social phenotype in WMS that includes an overfriendly and engaging personality. Four studies measuring distinct aspects of hypersocial behavior in WMS are presented, each probing specific aspects in WMS infants, toddlers, school age children, and adults. The abnormal profile of excessively social behavior represents an important component of the phenotype that may distinguish WMS from other developmental disorders. Furthermore, the studies show that the profile is observed across a wide range of ages, and emerges consistently across multiple experimental paradigms. These studies of hypersocial behavior in WMS promise to provide the groundwork for crossdisciplinary analyses of gene-brain-behavior relationships.
对异常人群的研究为考察认知、基因型和脑神经生物学之间的关系提供了难得的机会，使得在这些不同分析层面之间进行比较成为可能。在我们的研究中，我们调查患有一种名为威廉姆斯综合征（WMS）的罕见的、基于基因的疾病的个体，以在这些层面之间建立联系。这样一个跨领域研究的关键组成部分是对所研究疾病的表型进行清晰的界定。本文特别感兴趣的是WMS中一种相对未被探索的不寻常的社会表型，其中包括过度友好和有吸引力的个性。本文呈现了四项测量WMS中过度社交行为不同方面的研究，每项研究都探究了WMS婴儿、幼儿、学龄儿童和成年人的特定方面。过度社交行为的异常特征代表了该表型的一个重要组成部分，这可能使WMS有别于其他发育障碍。此外，研究表明这种特征在广泛的年龄范围内都能观察到，并且在多种实验范式中都一致出现。这些对WMS中过度社交行为的研究有望为基因-脑-行为关系的跨学科分析奠定基础。
