Newborn Screening for X-Linked Adrenoleukodystrophy: Past, Present, and Future

Ann B. Moser; Elisa Seeger; Gerald V. Raymond

doi:10.3390/ijns8010016

Newborn Screening for X-Linked Adrenoleukodystrophy: Past, Present, and Future

Ann B. Moser, Elisa Seeger, Gerald V. Raymond

Research output: Contribution to journal › Comment/debate › peer-review

Abstract

Newborn screening for X-linked adrenoleukodystrophy began in New York in 2013. Prior to this start, there was already significant information on the diagnosis and monitoring of asymptomatic individuals. Methods needed to be developed and validated for the use of dried blood spots. Following its institution in New York, its acceptance as a disorder on the Recommended Uniform Screening occurred. With it has come published recommendations on the surveillance and care of boys detected by newborn screening. There still remain challenges, but it is hoped that with periodic review, they may be overcome.

Original language	English (US)
Article number	16
Journal	International Journal of Neonatal Screening
Volume	8
Issue number	1
DOIs	https://doi.org/10.3390/ijns8010016
State	Published - Mar 2022

Keywords

Adrenal insufficiency
Adrenoleukodystrophy
Cerebral adrenoleukodystrophy
Dried blood spots
Newborn screening

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Immunology and Microbiology (miscellaneous)
Obstetrics and Gynecology

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10.3390/ijns8010016

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title = "Newborn Screening for X-Linked Adrenoleukodystrophy: Past, Present, and Future",

abstract = "Newborn screening for X-linked adrenoleukodystrophy began in New York in 2013. Prior to this start, there was already significant information on the diagnosis and monitoring of asymptomatic individuals. Methods needed to be developed and validated for the use of dried blood spots. Following its institution in New York, its acceptance as a disorder on the Recommended Uniform Screening occurred. With it has come published recommendations on the surveillance and care of boys detected by newborn screening. There still remain challenges, but it is hoped that with periodic review, they may be overcome.",

keywords = "Adrenal insufficiency, Adrenoleukodystrophy, Cerebral adrenoleukodystrophy, Dried blood spots, Newborn screening",

author = "Moser, {Ann B.} and Elisa Seeger and Raymond, {Gerald V.}",

note = "Funding Information: Acknowledgments: The authors would like to acknowledge the ALD Alliance in support of newborn screening, assistance with education for states and centers, and provision of support to the families identified. We would also like to acknowledge the support for this endeavor by the United Leukodystrophy Foundation (ULF), the Global Foundation for Peroxisomal Disorders (GFPD), Hunters Hope, and others. Publisher Copyright: {\textcopyright} 2022 by the authors. Licensee MDPI, Basel, Switzerland.",

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month = mar,

doi = "10.3390/ijns8010016",

language = "English (US)",

volume = "8",

journal = "International Journal of Neonatal Screening",

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AU - Seeger, Elisa

AU - Raymond, Gerald V.

N1 - Funding Information: Acknowledgments: The authors would like to acknowledge the ALD Alliance in support of newborn screening, assistance with education for states and centers, and provision of support to the families identified. We would also like to acknowledge the support for this endeavor by the United Leukodystrophy Foundation (ULF), the Global Foundation for Peroxisomal Disorders (GFPD), Hunters Hope, and others. Publisher Copyright: © 2022 by the authors. Licensee MDPI, Basel, Switzerland.

PY - 2022/3

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N2 - Newborn screening for X-linked adrenoleukodystrophy began in New York in 2013. Prior to this start, there was already significant information on the diagnosis and monitoring of asymptomatic individuals. Methods needed to be developed and validated for the use of dried blood spots. Following its institution in New York, its acceptance as a disorder on the Recommended Uniform Screening occurred. With it has come published recommendations on the surveillance and care of boys detected by newborn screening. There still remain challenges, but it is hoped that with periodic review, they may be overcome.

AB - Newborn screening for X-linked adrenoleukodystrophy began in New York in 2013. Prior to this start, there was already significant information on the diagnosis and monitoring of asymptomatic individuals. Methods needed to be developed and validated for the use of dried blood spots. Following its institution in New York, its acceptance as a disorder on the Recommended Uniform Screening occurred. With it has come published recommendations on the surveillance and care of boys detected by newborn screening. There still remain challenges, but it is hoped that with periodic review, they may be overcome.

KW - Adrenal insufficiency

KW - Adrenoleukodystrophy

KW - Cerebral adrenoleukodystrophy

KW - Dried blood spots

KW - Newborn screening

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Newborn Screening for X-Linked Adrenoleukodystrophy: Past, Present, and Future

Abstract

Keywords

ASJC Scopus subject areas

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