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 脆性 X 综合征 (FXS) 是最常见的智力障碍遗传形式。然而，因为 表型特征在出生时并不明显，FXS 必须通过发育或发育异常来辨别 行为。在诊断出 FXS 之前，父母通常要经历一段漫长的“冒险之旅”（Bailey、Skinner、 哈顿和罗伯茨，2000；贝利、斯金纳和斯帕克曼，2003）。平均诊断年龄为32-36个月 对于完全突变的男性，通常对女孩来说要晚一些，因为女性受到的影响更轻微。结果，孩子们 错过参与早期干预的机会，并且父母经常有额外的患有 FXS 的孩子 在不了解生殖风险的情况下。 新生儿筛查将为父母提供了解孩子的 FXS 状态以及他们自己的机会 除了其他可能的好处外，还存在生殖风险（Bailey，2004；Bailey、Skinner 和 Warren，2005；Bailey， 贝斯科、戴维斯和斯金纳，2006）。然而，人们也提出了一些担忧，包括缺乏治疗、同意 问题、可能的家长焦虑或亲子关系中断、承运人披露以及国家能力有限 支持家庭（Bailey 等人，接受待定的小修改）。因此，新生儿 FXS 筛查是 有争议的。家长对专业人士和医疗保健系统表示失望，考虑以下优点： 筛查的可能性大于缺点，并且对“益处”和“治疗”有广泛的看法（Bailey 等人， 2006年；贝利、斯金纳和斯帕克曼，2003 年；斯金纳、斯帕克曼和贝利，2003）。这些和其他研究（例如， 坎贝尔和罗斯，2003；戴维森等人，2000；赫尔顿等人，1991； Whitehead & Strange, 2006）表明 父母强烈支持自愿扩大新生儿筛查。但专业人士普遍坚持 仅筛查可改善健康结果的明确医疗方法的病症（Botkin 等人，2006 年； 纳托维奇，2005）。专业组织反对对婴儿进行携带者检测，认为筛查应该 仅当已证明对婴儿有医疗益处时才可进行（美国儿科学会，2000 年； ASHG/ACMG，1995）。 脆性 X 综合征是研究技术能力时代出现的问题的绝佳原型 大大扩大新生儿筛查范围。项目 3 重点关注家庭对 FXS 新生儿筛查的适应。 该研究将提供有关携带者和携带者筛查后果的重要信息。 具有 FXS 完全突变的儿童。