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形式。然而，因为 表型特征在出生时不明显，FXS必须通过发育异常或 行为。在FXS确诊之前，父母通常会经历一段漫长的“奥德赛”(Bailey，Skinner， Hatton，&Roberts，2000；Bailey，Skinner，&Sparkman，2003)。确诊的平均年龄为32-36个月。 对于完全突变的男性，通常是较晚的女孩，因为女性受到的影响较轻。因此，孩子们 错过参与早期干预的机会，父母经常有额外的孩子患有FXS 却不知道有生育风险。 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，以及其他可能的益处(Bailey，2004；Bailey，Skinner&Warren，2005；Bailey， Beskow，Davis，&Skinner，2006)。然而，人们提出了关切，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，接受有待进行的微小修订)。因此，新生儿FXS筛查是 有争议的。父母反映对专业人士和医疗保健系统的失望，考虑到 更有可能进行筛查，而不是缺点，并且对“益处”和“治疗”有广泛的看法(Bailey等人， 2006年；Bailey，Skinner，&Sparkman，2003；Skinner，Sparkman，&Bailey，2003)。这些和其他研究(例如， Campbell&Ross，2003；Davidson等人，2000；Helton等人，1991；Whitehead&Strange，2006)表明 父母强烈支持自愿扩大新生儿筛查。然而，专业人士普遍坚持 仅筛查具有改善健康结果的明确医疗治疗的疾病(Botkin等人，2006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这样做(美国儿科学会，2000； ASHG/ACMG，1995)。 脆性X综合征是研究技术能力时代将出现的问题的一个极好的原型 用于极大地扩展新生儿筛查。项目3的重点是家庭适应FXS新生儿筛查。 这项研究将提供有关筛查对运营商和 携带FXS全突变的儿童。

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.