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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Initial Evaluation of Newborn Screening for X- ...
Initial Evaluation of Newborn Screening for X-Linked Adrenoleukodystrophy in South Florida
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This document is an initial evaluation of newborn screening for X-Linked Adrenoleukodystrophy (X-ALD) in South Florida. The study aimed to characterize the population of patients who screened positive for X-ALD and evaluate the outcomes of the screening program.<br /><br />The study included a retrospective chart review of patients who screened positive for X-ALD in South Florida. The population demographics of the screen-positive patients were analyzed, which included 61% male and 39% female patients. The majority of the patients were from Hispanic/Latino ethnicity (44%), followed by Black/African-American (28%) and White (11%). <br /><br />The study found that the estimated prevalence of true positive X-ALD babies in South Florida was 1 in 15,747, compared to the national estimated prevalence of 1 in 21,000. Two children in the study developed an X-ALD-related phenotype of adrenal insufficiency. Additionally, 42% of the babies with X-ALD had maternally inherited pathogenic variants, while 5% had confirmed de novo variants. <br /><br />The authors discussed future directions for the research, including evaluating rates of X-ALD in siblings and family members of screen-positive patients, collecting statewide newborn screening data to recalculate the incidence of X-ALD, and following X-ALD positive patients longitudinally to assess the progression of their clinical status.<br /><br />The study acknowledges the support and funding from the Dr. John T. MacDonald Foundation Department of Human Genetics and the ACMG Foundation for Genetic and Genomic Medicine. The authors also express gratitude to the patients for their contribution to the research.<br /><br />References are provided for further reading on X-ALD newborn screening and its implications.<br /><br />Overall, this document outlines the initial findings of a study on newborn screening for X-ALD in South Florida, including population demographics and outcomes of the screening program. The study highlights the importance of early identification and treatment for improving outcomes in X-ALD patients.
Asset Subtitle
Presenting Author - Sofia Zoullas, AB; Co-Author - Deborah S. Barbouth; Co-Author - Paulo Borjas Mendoza, MD; Co-Author - Stephanie A. Bivona, MS; Co-Author - Willa Thorson, MD;
Meta Tag
Brain/Nervous System
Databases
Genetic Testing
Metabolic Disorder
Pathogenesis
Phenotype
X-Inactivation/X-Linked Disease
Co-Author
Deborah S. Barbouth
Co-Author
Paulo Borjas Mendoza, MD
Co-Author
Stephanie A. Bivona, MS
Co-Author
Willa Thorson, MD
Presenting Author
Sofia Zoullas, AB
Keywords
newborn screening
X-Linked Adrenoleukodystrophy
X-ALD
South Florida
population demographics
screen-positive patients
prevalence
adrenal insufficiency
pathogenic variants
longitudinal assessment
© 2025 American College of Medical Genetics and Genomics. All rights reserved.
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