NEUROPSYCHOLOGICAL BASIS OF THE BROAD AUTISM PHENOTYPE

广泛自闭症表型的神经心理学基础

• 批准号: 6560402
• 负责人: Joseph Piven
• 金额: $ 21.5万
• 依托单位: UNIV OF NORTH CAROLINA CHAPEL HILL
• 依托单位国家: 美国
• 财政年份: 2002
• 资助国家: 美国
• 起止时间: 2002-07-01 至 2007-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6560402
• 关键词: Downs syndrome; amygdala; autism; behavioral /social science research tag; behavioral genetics; brain injury; clinical research; cognition; family genetics; frontal lobe /cortex; human subject; neuropsychological tests; neuropsychology; phenotype; social behavior; somesthetic sensory cortex; Downs syndrome; amygdala; autism; behavioral /social science research tag; behavioral genetics; brain injury; clinical research; cognition; family genetics; frontal lobe /cortex; human subject; neuropsychological tests; neuropsychology; phenotype; social behavior; somesthetic sensory cortex

DESCRIPTION (provided by applicant): For over 15 years our research team and others have taken Kanner?s original observations about personality features characteristic of some parents of autistic individuals and developed definitions of, and standardized measures for, a broader autism phenotype. The broad autism phenotype (BAP) is thought to represent the phenotypic expression of the genetic liability to autism in non-autistic relatives of autistic probands, and is defined by characteristics that are milder but qualitatively similar to the defining features of autism. This work has potential importance for 1) teasing apart the gene-behavior relationships in autism, 2) understanding brain-behavior relationships in autism and, 3) providing additional qualitative and quantitative information on the range and nature of the phenotypic expression of autism genes, which may augment our ability to find those genes. While autism and the BAP are defined by particular behavioral characteristics, they are clinically and etiologically heterogeneous, and are the end result of a range of underlying neuropsychological, neural and genetic mechanisms. In this project we propose to examine the relatives of autistic and Down syndrome probands on selected neuropsychological measures of social cognition, central coherence and executive function, three principal cognitive frameworks proposed as theories to explain the neuropsychological basis of autism. These neuropsychological characteristics will be examined in relationship to our clinically-based measures of the BAP, in order to both elucidate the neuropsychological basis of the BAP and to provide efficient, valid and reliable measures for future studies of the BAP. Autism and OS relatives will be compared in these three neuropsychological domains, to a unique sample of individuals with focal brain lesions in the amygdala, orbital-frontal cortex and right somatosensory cortex, drawn from a brain injury registry at the University of Iowa, to provide insights into the neural basis of the behavioral and neuropsychological characteristics of autism and the BAP. Finally, patterns of co-occurrence of these characteristics will be examined in individuals and families. This study will complement ongoing studies of the same neuropsychological characteristics in autistic probands. This project brings together a unique group of experienced researchers with complementary expertise in family-genetic (Piven) and neuropsychological studies of autism (Happe), and in the neural basis of social cognition (Adolphs), to study the neuropsychological basis of the broad autism phenotype.

描述（由申请人提供）：超过15年以上，我们的研究团队和其他人对坎纳（Kanner）对某些自闭症患者的某些父母的特征以及对更广泛的自闭症表型的定义和标准化措施进行了定义。 人们认为，广泛的自闭症表型（BAP）代表了自闭症概率的非自闭症亲戚对自闭症的表型表达，并且由特征定义，这些特征较温和但在质量上与自闭症的定义特征相似。这项工作对1）自闭症中的基因行为关系具有潜在的重要性，2）了解自闭症中的脑行为关系，以及3）提供有关自闭症基因表型表达的范围和性质的其他定性和定量信息，这可能会增强我们找到这些基因的能力。尽管自闭症和BAP是由特定的行为特征定义的，但它们在临床和病因上是异质的，并且是一系列潜在的神经心理学的最终结果， 神经和遗传机制。在该项目中，我们建议探讨自闭症和唐氏综合症的亲属，以对社会认知，中心连贯性和执行功能的某些神经心理学测量，这是三个主要的认知框架，以解释自闭症的神经心理学基础。这些神经心理学特征将与我们基于临床的BAP测量的关系进行研究，以阐明BAP的神经心理学基础，并为BAP的未来研究提供有效，有效和可靠的措施。自闭症和OS亲戚将在这三个神经心理学领域中进行比较，与杏仁核，轨道额额皮层和右体感皮质中具有局灶性脑损伤的个体样本，该样本是从爱荷华大学的脑损伤注册表中得出的，在爱荷华大学的脑损伤注册表中，为行为和神经心理学的神经学特征提供了洞察力。最后，将在个人和家庭中检查这些特征的同时存在模式。这项研究将补充对自闭症概率中相同神经心理学特征的持续研究。该项目汇集了一个独特的经验丰富的研究人员，具有自闭症（piven）和神经心理学的互补专业知识（Happe），以及在社会认知的神经基础上（Adolphs），以研究神经心理学 广泛的自闭症表型的基础。