Feinstein Carl, Singh Sonia
Department of Child & Adolescent Psychiatry, Lucile Packard Children's Hospital, MC 5719, Stanford, CA 94305, USA.
Child Adolesc Psychiatr Clin N Am. 2007 Jul;16(3):631-47. doi: 10.1016/j.chc.2007.03.006.
Many of the known genetically based neurodevelopmental disorders are associated with a distinctive behavioral phenotype. As these behavioral phenotypes have been elucidated by clinical research, distinctive profiles of social traits have emerged as prominent syndromic features. This article reviews social phenotypic findings for fragile X syndrome, Down syndrome, Prader-Willi syndrome, Smith-Magenis syndrome, Turner syndrome, Williams syndrome, and velocardiofacial syndrome. An analysis of these social profiles raises several questions regarding the relationship between identified social impairments and autism and the relationship between social impairments in neurodevelopmental disorders and those found in normative child populations. The unique profile of certain of the known behavioral phenotypes also serves to distinguish several dimensions of sociability that are not readily observed in typical populations.
许多已知的基于基因的神经发育障碍都与独特的行为表型相关。随着这些行为表型通过临床研究得以阐明,独特的社会特征概况已成为突出的综合征特征。本文综述了脆性X综合征、唐氏综合征、普拉德-威利综合征、史密斯-马吉尼斯综合征、特纳综合征、威廉姆斯综合征和腭心面综合征的社会表型研究结果。对这些社会概况的分析提出了几个问题,涉及已确定的社会障碍与自闭症之间的关系,以及神经发育障碍中的社会障碍与正常儿童群体中的社会障碍之间的关系。某些已知行为表型的独特概况也有助于区分典型人群中不易观察到的社交能力的几个维度。