Genotype and Phenotype of Response to Treatments of Autism

自闭症治疗反应的基因型和表型

• 批准号: 6654298
• 负责人: PATRICIA M RODIER
• 金额: $ 145.93万
• 依托单位: UNIVERSITY OF ROCHESTER
• 依托单位国家: 美国
• 财政年份: 2003
• 资助国家: 美国
• 起止时间: 2003-05-13 至 2008-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6654298
• 关键词: autism; behavior therapy; behavioral /social science research tag; clinical research; cooperative study; diet therapy; genotype; human subject; nutrition related tag; phenotype

STAART CENTER: Individual differences in response to treatments of autism spectrum disorders (ASDs) present a serious problem in choice of treatment. If we could predict in advance which children would benefit from the available interventions and which would not, children could be matched to treatments. On the other hand, individual differences in response to treatment may represent an opportunity for studies of the etiology of autism. Responders and non-responders are likely to represent different subsets of the spectrum that may be genetic in origin. Along with other phenotypic characteristics of children with ASDs, response to treatment is a dimension that deserves investigation as a possible way to stratify the spectrum for genetic studies. We propose studies of children's response to two of the most commonly used treatments of ASDs: early intensive behavioral intervention (Project I) and the gluten-free, casein-free diet (Project II). Each treatment project is accompanied by a related neurobiological investigation. Project III is an examination of the neurobiology of facial expression and imitation, which are important in the behavioral interventions under study in Project I. Project IV is an investigation of the sense of taste in both humans and animals, based on preliminary evidence that children with ASDs have dysfunction in this modality. It addresses dietary issues broader than the specific diet under study in Project II. Each Project has a genetic component, to explore the relationship of six suspected candidate genes to treatment response and other phenotypic characteristics of children with ASDs. A Genetics Core will provide the molecular testing for these studies. Each Project will use an Assessment and Records Core for characterizing participants and/or identifying and recruiting appropriate participants. An Administrative core will oversee the program, providing budgetary oversight, internal and external review of progress, statistical services, interactions with the community, and regular interactions between investigators. This proposal takes advantage of an unusual environment. The availability of intensive early behavioral intervention at public expense facilitates treatment studies. A large population of children with ASDs and families anxious to participate in research facilitate recruitment. The presence of a biologically-oriented CPEA complements the Projects of the STAART Center.

Staart中心：对自闭症谱系障碍治疗（ASD）的响应的个体差异（ASDS）在选择治疗时提出了一个严重的问题。如果我们可以提前预测哪些孩子将从可用的干预措施中受益，哪些孩子将不受欢迎，则可以将儿童与治疗相匹配。另一方面，响应治疗的个体差异可能代表了研究自闭症病因的机会。响应者和非反应者可能代表可能起源遗传的频谱的不同子集。与ASD的儿童的其他表型特征一起，对治疗的反应是一个值得研究的维度，作为对遗传研究频谱进行分层的可能方法。我们建议对儿童对ASD的两种最常用治疗方法的反应进行研究：早期强化行为干预（项目I）和无麸质饮食 （项目II）。每个治疗项目都伴随着相关的神经生物学研究。项目III是对面部表达和模仿神经生物学的检查，这在项目I的行为干预措施中很重要。项目IV是对人类和动物味道感的研究，基于初步证据，表明患有ASD的儿童在这种模式下具有功能障碍。它解决了项目II中所研究的特定饮食更广泛的饮食问题。每个项目都有一个遗传成分，可以探索六个可疑的候选基因与ASD儿童儿童的治疗反应和其他表型特征的关系。遗传学核心将为这些研究提供分子测试。每个项目将使用评估和记录核心来表征参与者和/或 识别和招募适当的参与者。行政核心将监督该计划，提供预算监督，进度，统计服务，与社区的互动以及调查人员之间的定期互动的内部和外部审查。该提案利用了一个异常的环境。公共费用的强化早期行为干预的可用性有助于治疗研究。大量有ASD和家庭的儿童急于参与研究，这促进了招聘。以生物学为导向的CPEA的存在补充了Staart中心的项目。