Identifying Newborns with Fragile X: Planning Grant

描述(由申请人提供)：本申请申请获得探索性/发展性拨款，以设计和准备实施一项关于脆性X综合征婴儿及其家庭的大型多状态研究。基于在选定的州对大约100万名新生儿进行FXS的普遍筛查，这项研究将旨在回答八组研究问题：(1)FXS在美国的发病率是多少？这一比率是否随着种族的不同而变化？(2)公众对FXS筛查的接受度如何？自愿参与筛查的家长比例是多少？选择不参与的父母有哪些特征？(3)告知家庭FXS状况并支持他们获得有关FXS和生殖风险的信息的不同模式的相对有效性和可接受性如何？(4)FXS儿童的父母与发育正常的儿童或患有非遗传性疾病的儿童的父母之间的联系和依恋关系是否不同？(5)对FXS儿童的父母的生殖风险知识如何影响FXS儿童的父母随后的生育决定？(6)FXS婴儿和蹒跚学步的儿童的发展模式是什么？这些模式如何随着FMRP、生理变量、SES、性别和自闭症等因素的变化而变化？(7)对比早期干预模式对患有FXS的儿童及其家庭的有效性是什么？治疗效果是否根据残疾的严重程度和性质而有所不同？以及(8)FXS儿童早期家庭的应对和适应模式是什么？这些模式是如何随着孩子、父母、家庭和生态变量的变化而变化的？由多所大学、多学科的调查人员和顾问组成的团队将确定参与的州并建立以州为基础的规划团队；确定用于筛查的实验室程序；确定和解决一系列伦理和实际问题；为遗传咨询、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的有效性研究制定协议和程序；与一系列机构、组织和个人合作，以争取对项目及其实施的广泛支持；并开发实施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.