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Brain Sci. 2019 Jan 3;9(1). pii: E4. doi: 10.3390/brainsci9010004.

Early Identification of Fragile X Syndrome through Expanded Newborn Screening.

Author information

1
RTI International, Research Triangle Park, NC 27709-2194, USA. kokoniewski@rti.org.
2
RTI International, Research Triangle Park, NC 27709-2194, USA. acwheeler@rti.org.
3
RTI International, Research Triangle Park, NC 27709-2194, USA. snlee@rti.org.
4
RTI International, Research Triangle Park, NC 27709-2194, USA. mlincolnboyea@rti.org.
5
RTI International, Research Triangle Park, NC 27709-2194, USA. mraspa@rti.org.
6
RTI International, Research Triangle Park, NC 27709-2194, USA. jltaylor@rti.org.
7
RTI International, Research Triangle Park, NC 27709-2194, USA. dbailey@rti.org.

Abstract

Over the past 20 years, research on fragile X syndrome (FXS) has provided foundational understanding of the complex experiences of affected individuals and their families. Despite this intensive focus, there has been little progress on earlier identification, with the average age of diagnosis being 3 years. For intervention and treatment approaches to have the greatest impact, they need to begin shortly after birth. To access this critical timespan, differential methods of earlier identification need to be considered, with an emerging focus on newborn screening practices. Currently, barriers exist that prevent the inclusion of FXS on standard newborn screening panels. To address these barriers, an innovative program is being implemented in North Carolina to offer voluntary screening for FXS under a research protocol, called Early Check. This program addresses the difficulties observed in prior pilot studies, such as recruitment, enrollment, lab testing, and follow-up. Early Check provides an opportunity for stakeholders and the research community to continue to gain valuable information about the feasibility and greater impact of newborn screening on the FXS population.

KEYWORDS:

early identification; fragile X syndrome; newborn screening

PMID:
30609779
DOI:
10.3390/brainsci9010004
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