FAMILY ADAPTATION TO NEWBORN SCREENING FOR FRAGILE X SYNDROME

a.具体目标 脆性X综合征（FXS）是最常见的遗传性智力残疾。但由于 表型特征在出生时并不明显，FXS必须通过发育异常或 行为在FXS被诊断出来之前，父母通常会经历一段漫长的"奥德赛"（Bailey，Skinner， Hatton，& Roberts，2000; Bailey，Skinner，&斯帕克曼，2003）.平均确诊年龄为32 - 36个月 对于完全突变的男性来说，通常对女孩来说更晚，因为女性受到的影响更轻微。因此，儿童 错过了参与早期干预的机会，父母经常有额外的FXS儿童 而不知道生殖风险。 新生儿筛查将为父母提供机会，了解他们孩子的FXS状态和他们自己的FXS状态。 生殖风险，除了其他可能的好处（贝利，2004年;贝利，斯金纳，沃伦，2005年;贝利， Beskow，Davis，& Skinner，2006）.然而，人们提出了一些担忧，包括缺乏治疗，同意 问题，可能的父母焦虑或亲子关系中断，运营商披露，以及有限的国家能力 以支持家庭（Bailey等人，接受，等待小的修订）。因此，新生儿FXS筛查是 争议父母报告对专业人员和医疗保健系统感到沮丧，考虑 筛选的可能性大于缺点，并且对"益处"和"治疗"有广泛的看法（Bailey等人， Bailey，Skinner，&斯帕克曼，2003; Skinner，斯帕克曼，& Bailey，2003）.这些和其他研究（例如， 坎贝尔和罗斯，2003年;戴维森等人，2000; Helton等人，Whitehead & Strange，2006）表明， 家长大力支持自愿扩大新生儿筛查。然而，专业人士普遍认为， 仅筛选具有改善健康结果的明确医学治疗的病症（Botkin等人，二○ ○六年; Natowicz，2005）。专业组织反对对婴儿进行携带者检测，认为筛查应该 只有在证明对婴儿有医疗益处的情况下才能这样做（美国儿科学会，2000年; ASHG/ACMG，1995年）。 脆性X染色体综合征是研究技术能力时代将出现的问题的极好原型 用于大幅度扩大新生儿筛查。项目3侧重于家庭对新生儿FXS筛查的适应。 这项研究将提供关于筛查携带者和 FXS基因完全突变的孩子

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.