Identifying Newborns with Fragile X: Planning Grant

描述（由申请人提供）：本申请申请探索性/发展性拨款，以设计和准备实施一项针对脆性X综合征婴儿及其家庭的大型多州研究。基于在选定的州对大约100万新生儿进行FXS普遍筛查的一段时间，该研究旨在回答八组研究问题：(1)美国FXS的发病率是多少？这个比率是否因种族而异？(2)公众对FXS的接受程度如何？自愿参加筛查的家长比例是多少？选择不参加的父母有什么特点？(3)不同模式在告知家庭FXS状况、支持家庭获取疾病和生殖风险信息方面的相对有效性和可接受性如何？(4) FXS患儿的父母与正常发育患儿或非遗传性疾病患儿的父母之间的联结和依恋关系是否不同？(5)生育风险知识如何影响FXS患儿父母后续的生育决策？(6)婴幼儿FXS的发展特点是什么？这些模式是如何随着FMRP、生理变量、社会经济地位、性别和自闭症等因素的作用而变化的？(7) FXS患儿及其家庭早期干预对比模式的效果如何？治疗效果是否因残疾的严重程度和性质而异？(8) FXS儿童早期家庭的应对和适应模式是什么？这些模式如何随着孩子、父母、家庭和生态变量的变化而变化？一个由多所大学、多学科组成的调查人员和顾问小组将确定参与国，并建立以国家为基础的规划小组；确定用于筛选的实验室程序；识别和处理一系列道德和实际问题；制定遗传咨询、家庭支持、家庭适应研究、婴儿发育研究以及儿童和家庭干预模式功效研究的协议和程序；与一系列机构、组织和个人合作，争取对项目及其实施的广泛支持；并开发实施这项研究所需的基础设施。

DESCRIPTION (provided by applicant): This application requests funds for an Exploratory/ Developmental grant to design and prepare to implement a large multi-state study of infants with fragile X syndrome and their families. Based on a period of universal screening of approximately 1,000,000 newborns for FXS in selected states, the study would be designed to answer eight sets of research questions: (1) What is the incidence rate of FXS in the U.S.? Does this rate vary as a function of ethnicity? (2) How acceptable to the public is screening for FXS? What proportion of parents voluntarily participate in screening? What characteristics differentiate parents who choose not to participate? (3) What is the relative effectiveness and acceptability of different models for informing families about FXS status and supporting them in gaining information about the disorder and reproductive risk? (4) Does the bonding and attachment relationship between parents of children with FXS differ from that of parents of normally developing children or children with non-heritable disorders? (5) How does knowledge of reproductive risk affect subsequent reproductive decisions of parents of children with FXS? (6) What patterns of development characterize infants and toddlers with FXS? How do these patterns vary as a function of factors such as FMRP, physiological variables, SES, gender, and autism? (7) What is the efficacy of contrasting models of early intervention for children with FXS and their families? Does treatment efficacy vary in accordance with the severity and nature of disability? and (8) What patterns of coping and adaptation characterize families of children with FXS during the early years? How do these patterns vary as a function of child, parent, family, and ecological variables? A multi-university, multi-disciplinary team of investigators and consultants will determine the participating states and develop state-based planning teams; determine the laboratory procedure to be used for screening; identify and address a range of ethical and practical issues; develop a protocol and procedures for genetic counseling, family support, studies of family adaptation, studies of infant development, and studies of the efficacy of child and family intervention models; work with an array of agencies, organizations, and individuals to garner widespread support for the project and its implementation; and develop the infrastructure necessary to implement the study.