Document Type

Article

Publication Date

11-2025

Identifier

DOI: 10.1016/j.ymgme.2025.109235

Abstract

PURPOSE: This study explores the psychosocial impact of a positive newborn screen (NBS) result for four lysosomal storage disorders (LSDs) (Fabry disease, Krabbe disease, Mucopolysaccharidosis Type I, Pompe disease) across confirmatory results.

METHODS: Parents whose child who had a positive NBS for one of the included LSDs were recruited for a retrospective cohort (n = 80) or prospective, longitudinal cohorts (n = 50). Surveys assessed uncertainty, anxiety, intrusive or avoidant thoughts, and perceived vulnerability of their child's health. In-depth interviews explored the NBS experience and psychosocial response.

RESULTS: Participants experienced uncertainty and anxiety during confirmatory testing that improved as parents received more information. Retrospective cohort surveys showed ongoing levels of anxiety and perceived vulnerability in parents of children with carrier or pseudodeficiency results closer to those with true positive or inconclusive results than to false positives of undetermined cause. Interviews indicated some parents across cohorts and confirmatory results held uncertainty about their child's health, frequent thoughts about NBS, and vulnerable views of their child.

CONCLUSION: This mixed-methods study provides evidence that NBS for LSDs may be associated with extended psychosocial impacts for some families, even if their child does not have an LSD. Lower false positive rates and additional counseling may limit the burden.

Journal Title

Molecular genetics and metabolism

Volume

146

Issue

3

First Page

109235

Last Page

109235

MeSH Keywords

Humans; Neonatal Screening; Parents; Lysosomal Storage Diseases; Infant, Newborn; Female; Male; Adult; Retrospective Studies; Anxiety; Child; Prospective Studies; Longitudinal Studies; Surveys and Questionnaires; Infant

PubMed ID

41005062

Keywords

Experience; Lysosomal storage disorders; Newborn screening; Psychosocial

Comments

This is an open access article distributed under the terms of the Creative Commons CC-BY license, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Publisher's Link: https://www.sciencedirect.com/science/article/pii/S1096719225002264?via%3Dihub

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