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Early Identification of Fragile X Syndrome through Expanded Newborn Screening

RTI International, Research Triangle Park, NC 27709-2194, USA
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Author to whom correspondence should be addressed.
Brain Sci. 2019, 9(1), 4; https://doi.org/10.3390/brainsci9010004
Received: 14 November 2018 / Revised: 21 December 2018 / Accepted: 24 December 2018 / Published: 3 January 2019
(This article belongs to the Special Issue Towards Mechanism-based Treatments for Fragile X Syndrome)
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PDF [219 KB, uploaded 3 January 2019]

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. View Full-Text
Keywords: fragile X syndrome; newborn screening; early identification fragile X syndrome; newborn screening; early identification
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).
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Okoniewski, K.C.; Wheeler, A.C.; Lee, S.; Boyea, B.; Raspa, M.; Taylor, J.L.; Bailey, D.B., Jr. Early Identification of Fragile X Syndrome through Expanded Newborn Screening. Brain Sci. 2019, 9, 4.

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