FAMILY ADAPTATION TO NEWBORN SCREENING FOR FRAGILE X SYNDROME

家庭对新生儿脆性 X 综合征筛查的适应

• 批准号: 7482836
• 负责人: Donald B Bailey
• 金额: $ 26.77万
• 依托单位: UNIV OF NORTH CAROLINA CHAPEL HILL
• 依托单位国家: 美国
• 财政年份: 2008
• 资助国家: 美国
• 起止时间: 2008-07-01 至 2013-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7482836
• 关键词: Academy; Adverse event; Affect; Age; American; Anxiety; Behavior; Birth; Child; Condition; Consent; Development; Diagnosis; Disadvantaged; Disclosure; Early Intervention; Ethnic group; Evolution; Family; Family member; Female; Fragile X Syndrome; Frustration; Health; Health Professional; Healthcare Systems; Infant; Inherited; Intellectual functioning disability; Learning; Medical; Mental Health; Minor; Mutation; Neonatal Screening; Newborn Infant; Outcome; Parent-Child Relations; Parents; Pediatrics; Professional Organizations; Reporting; Risk; Screening Result; Screening procedure; Testing; Time; Variant; girls; improved; male; prototype; reproductive

A. SPECIFIC AIMS Fragile X syndrome (FXS) is the most common inherited form of intellectual disability. However, because phenotypic features are not evident at birth, FXS must be discerned through abnormalities in development or behavior. Parents typically go through an extended "odyssey" before FXS is diagnosed (Bailey, Skinner, Hatton, & Roberts, 2000; Bailey, Skinner, & Sparkman, 2003). The average age of diagnosis is 32-36 months for full mutation males, and usually later for girls, since females are more mildly affected. As a result, children miss the opportunity to participate in early intervention and parents often have additional children with FXS without knowing reproductive risk. Newborn screening would provide parents the opportunity to learn about their child's FXS status and their own reproductive risk, in addition to other likely benefits (Bailey, 2004; Bailey, Skinner, & Warren, 2005; Bailey, Beskow, Davis, & Skinner, 2006). However, concerns have been raised, including lack of a treatment, consent issues, possible parent anxiety or disrupted parent-child relations, carrier disclosure, and limited state capacity to support families (Bailey et al., accepted pending minor revisions). Thus newborn screening for FXS is controversial. Parents report frustration with professionals and the health care system, consider advantages of screening more likely than disadvantages, and have a broad view of "benefit" and "treatment" (Bailey et al., 2006; Bailey, Skinner, & Sparkman, 2003; Skinner, Sparkman, & Bailey, 2003). These and other studies (e.g., Campbell & Ross, 2003; Davidson et al., 2000; Helton et al., 1991; Whitehead & Strange, 2006) show that parents strongly support voluntary expanded newborn screening. However, professionals generally insist on screening only for conditions with clear medical treatments that improve health outcomes (Botkin et al., 2006; Natowicz, 2005). Professional organizations oppose carrier testing for infants, arguing that screening should only be done if there is proven medical benefit to the infant (American Academy of Pediatrics, 2000; ASHG/ACMG, 1995). Fragile X syndrome is an excellent prototype for studying issues that will arise in an era of technical capacity for greatly expanded newborn screening. Project 3 focuses on family adaptation to newborn screening for FXS. The study will provide important information about the consequences of screening for both carriers and children with the full mutation FXS.

A.具体目标 脆弱的X综合征（FXS）是最常见的智障形式。但是，因为 表型特征在出生时并不明显，必须通过开发异常或 行为。父母通常在诊断出FXS之前经过扩展的“奥德赛”（Bailey，Skinner， Hatton，＆Roberts，2000年； Bailey，Skinner和Sparkman，2003年）。诊断的平均年龄为32-36个月 对于完全突变的男性，通常是女性，因为女性受到更轻微的影响。结果，孩子 错过参加早期干预的机会，父母经常有其他FX的孩子 不知道生殖风险。 新生儿筛查将为父母提供了解孩子的FXS状态和自己的机会 除其他可能的福利外，生殖风险（Bailey，2004年； Bailey，Skinner和Warren，2005年； Bailey，Bailey， Beskow，Davis和Skinner，2006年）。但是，已经提出了担忧，包括缺乏治疗，同意 问题，可能的父母焦虑或父母关系中断，承运人披露和有限的状态能力 支持家庭（Bailey等人，接受少量修订）。因此，FXS的新生儿筛选是 有争议的。父母报告对专业人员和医疗保健系统的挫败感，考虑的优势 筛查比缺点更有可能，并且对“福利”和“治疗”有广泛的看法（Bailey等， 2006; Bailey，Skinner和Sparkman，2003年； Skinner，Sparkman和Bailey，2003年）。这些和其他研究（例如 Campbell＆Ross，2003年； Davidson等人，2000年； Helton等，1991； Whitehead＆Strange，2006年）表明 父母强烈支持自愿扩大新生儿筛查。但是，专业人士通常坚持 仅对具有改善健康结果的明确药物治疗的疾病进行筛查（Botkin等，2006; Natowicz，2005年）。专业组织反对对婴儿的运营商测试，认为筛查应 仅在对婴儿有证明的医疗益处（美国儿科学院，2000年）才能完成。 Ashg/acmg，1995）。 脆弱的X综合征是研究在技术能力时代将出现的问题的绝佳原型 大大扩展了新生儿筛查。项目3的重点是对FXS新生儿筛查的家庭适应。 该研究将提供有关载体和筛查后果的重要信息 具有完整突变FXS的儿童。