Identifying Newborns with Fragile X: Planning Grant

描述（由申请人提供）：本申请要求提供探索/发展补助金，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1，000，000名新生儿进行FXS普遍筛查的时期，该研究将回答八组研究问题：（1）美国FXS的发病率是多少？ 这一比率是否因种族而异？ (2)公众对FXS筛查的接受程度如何？ 家长自愿参加筛查的比例是多少？ 选择不参加的父母有哪些特点？ (3)什么是相对有效性和可接受性的不同模式，告知家庭有关FXS的地位，并支持他们在获得有关疾病和生殖风险的信息？ (4)患有FXS的儿童的父母之间的联系和依恋关系是否与正常发育儿童或非遗传性疾病儿童的父母不同？ (5)生殖风险的知识如何影响FXS儿童父母随后的生殖决定？ (6)患有FXS的婴儿和幼儿的特征是什么样的发育模式？ 这些模式是如何随着FMRP、生理变量、SES、性别和自闭症等因素而变化的？ (7)对比早期干预模式对FXS儿童及其家庭的有效性如何？ 治疗效果是否因残疾的严重程度和性质而异？ 和（8）在早期，FXS儿童的家庭特征是什么样的应对和适应模式？ 这些模式如何随着儿童、父母、家庭和生态变量的变化而变化？ 一个由多所大学、多学科的调查人员和顾问组成的小组将确定参与国家，并建立以国家为基础的规划小组;确定用于筛查的实验室程序;确定和解决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、婴儿发育研究的方案和程序，研究儿童和家庭干预模式的有效性;与一系列机构、组织和个人合作，为项目及其实施争取广泛支持;并发展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.