Riley Catharine, Wheeler Anne
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia; and.
RTI International, Research Triangle Park, North Carolina
Pediatrics. 2017 Jun;139(Suppl 3):S207-S215. doi: 10.1542/peds.2016-1159G.
Fragile X syndrome (FXS) is the most common known inherited form of intellectual disability. Early identification is an important step in linking FXS individuals with appropriate and timely medical and social services. Newborn screening (NBS) is 1 approach that has been used for other conditions to facilitate early identification.
A literature review was conducted to identify issues, barriers, challenges, and approaches to addressing challenges related to NBS for FXS. Search terms included: fragile X syndrome, FMR1, newborn screening, screening, and genetic testing. To supplement the literature review, 9 key informant interviews were conducted. Information gathered through these interviews supplemented what was identified in the literature. Information from both the literature review and supplemental interviews was reviewed by 3 researchers who discussed and came to consensus on thematic areas and categorization of issues.
The barriers and challenges related to NBS for FXS identified in the literature and by experts and stakeholders are categorized into 5 thematic areas: public health burden, treatment, timing, screening/testing methodologies, and translating results. Summaries of these issues and barriers are provided, along with potential approaches to addressing them.
The issues and barriers described in this article highlight limited areas of knowledge that need be addressed to improve our understanding of FXS and the potential benefit of NBS. The landscape of NBS for FXS could be influenced by a series of research findings over time or a larger breakthrough that demonstrates an effective targeted treatment that has to be implemented early in life.
脆性X综合征（FXS）是最常见的已知遗传性智力障碍形式。早期识别是将FXS患者与适当且及时的医疗和社会服务联系起来的重要一步。新生儿筛查（NBS）是已用于其他病症以促进早期识别的一种方法。
进行了一项文献综述，以确定与FXS的NBS相关的问题、障碍、挑战以及应对挑战的方法。检索词包括：脆性X综合征、FMR1、新生儿筛查、筛查和基因检测。为补充文献综述，进行了9次关键信息提供者访谈。通过这些访谈收集的信息补充了文献中确定的内容。文献综述和补充访谈的信息由3名研究人员进行审查，他们就主题领域和问题分类进行了讨论并达成共识。
文献以及专家和利益相关者确定的与FXS的NBS相关的障碍和挑战分为5个主题领域：公共卫生负担、治疗、时机、筛查/检测方法以及结果解读。提供了这些问题和障碍的总结以及应对它们的潜在方法。
本文所述的问题和障碍突出了需要解决的有限知识领域，以增进我们对FXS的理解以及NBS的潜在益处。随着时间的推移，一系列研究结果或一项更大的突破可能会影响FXS的NBS前景，该突破表明必须在生命早期实施有效的靶向治疗。
