Newborn Screening for X-Linked Adrenoleukodystrophy: Past, Present, and Future
Ann B Moser1, Elisa Seeger2, Gerald V Raymond3
1Kennedy Krieger Institute, Baltimore, MD 21205, USA.
International Journal of Neonatal Screening
|February 28, 2022
Summary
New York initiated newborn screening for X-linked adrenoleukodystrophy (X-ALD) in 2013. Since then, methods for dried blood spot analysis have been validated, and care guidelines established for affected boys.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- X-linked adrenoleukodystrophy (X-ALD) is a rare genetic disorder affecting the adrenal glands and nervous system.
- Early diagnosis and monitoring of asymptomatic individuals were possible before newborn screening implementation.
- The development and validation of methods for X-ALD detection in dried blood spots were crucial.
Purpose of the Study:
- To review the implementation and impact of newborn screening for X-linked adrenoleukodystrophy (X-ALD) in New York.
- To highlight the progress made in diagnosis, monitoring, and care guidelines following the initiation of screening.
- To identify ongoing challenges in X-ALD newborn screening and management.
Main Methods:
- Review of existing literature and guidelines on X-ALD diagnosis and management.
- Description of the development and validation of dried blood spot testing methods for X-ALD.
- Analysis of the impact of newborn screening on X-ALD detection and subsequent care.
Main Results:
- New York established newborn screening for X-ALD in 2013.
- Validated methods for dried blood spot analysis enabled widespread screening.
- X-ALD was added to the Recommended Uniform Screening Panel, leading to published care guidelines.
Conclusions:
- Newborn screening for X-ALD has advanced early detection and care for affected boys.
- Established guidelines provide a framework for surveillance and management.
- Continued review and adaptation are necessary to address remaining challenges in X-ALD newborn screening.
