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Early Identification of Fragile X Syndrome through Expanded Newborn Screening

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...

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Autores principales: Okoniewski, Katherine C., Wheeler, Anne C., Lee, Stacey, Boyea, Beth, Raspa, Melissa, Taylor, Jennifer L., Bailey, Donald B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6356907/
https://www.ncbi.nlm.nih.gov/pubmed/30609779
http://dx.doi.org/10.3390/brainsci9010004
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author Okoniewski, Katherine C.
Wheeler, Anne C.
Lee, Stacey
Boyea, Beth
Raspa, Melissa
Taylor, Jennifer L.
Bailey, Donald B.
author_facet Okoniewski, Katherine C.
Wheeler, Anne C.
Lee, Stacey
Boyea, Beth
Raspa, Melissa
Taylor, Jennifer L.
Bailey, Donald B.
author_sort Okoniewski, Katherine C.
collection PubMed
description 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.
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spelling pubmed-63569072019-02-05 Early Identification of Fragile X Syndrome through Expanded Newborn Screening Okoniewski, Katherine C. Wheeler, Anne C. Lee, Stacey Boyea, Beth Raspa, Melissa Taylor, Jennifer L. Bailey, Donald B. Brain Sci Review 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. MDPI 2019-01-03 /pmc/articles/PMC6356907/ /pubmed/30609779 http://dx.doi.org/10.3390/brainsci9010004 Text en © 2019 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Okoniewski, Katherine C.
Wheeler, Anne C.
Lee, Stacey
Boyea, Beth
Raspa, Melissa
Taylor, Jennifer L.
Bailey, Donald B.
Early Identification of Fragile X Syndrome through Expanded Newborn Screening
title Early Identification of Fragile X Syndrome through Expanded Newborn Screening
title_full Early Identification of Fragile X Syndrome through Expanded Newborn Screening
title_fullStr Early Identification of Fragile X Syndrome through Expanded Newborn Screening
title_full_unstemmed Early Identification of Fragile X Syndrome through Expanded Newborn Screening
title_short Early Identification of Fragile X Syndrome through Expanded Newborn Screening
title_sort early identification of fragile x syndrome through expanded newborn screening
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6356907/
https://www.ncbi.nlm.nih.gov/pubmed/30609779
http://dx.doi.org/10.3390/brainsci9010004
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