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Updated: Jan 16, 2026

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
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Parental psychosocial outcomes after a positive newborn screen for a lysosomal storage disorder

Courtney Berrios1, Randi Gadea2, Meghan Strenk2

  • 1Genomic Medicine Center, Children's Mercy, Kansas City, MO 64108, USA; School of Medicine, University of Missouri, Kansas City, MO 64108, USA.

Molecular Genetics and Metabolism
|September 26, 2025
PubMed

Insights

Newborn screening for lysosomal storage disorders (LSDs) can cause lasting anxiety and worry for parents, even with false positive results. Improving screening accuracy and offering counseling can reduce this burden.

Area of Science:

  • Genetics
  • Pediatrics
  • Psychology

Background:

  • Newborn screening (NBS) aims to detect genetic disorders early.
  • Lysosomal storage disorders (LSDs) are a group of rare inherited metabolic diseases.
  • The psychosocial impact of positive NBS results, especially for LSDs, requires further investigation.

Purpose of the Study:

  • To explore the psychosocial impact of positive newborn screening (NBS) results for four lysosomal storage disorders (LSDs).
  • To examine these impacts across different confirmatory testing outcomes.
  • To understand parental experiences and emotional responses following NBS for LSDs.

Main Methods:

  • A mixed-methods approach combining retrospective (n=80) and prospective (n=50) longitudinal cohorts.
  • Surveys assessed parental uncertainty, anxiety, intrusive thoughts, and perceived child vulnerability.
  • In-depth interviews explored the NBS experience and psychosocial responses.

Main Results:

  • Parents experienced significant uncertainty and anxiety during confirmatory testing, which lessened with more information.
  • Parents of children with carrier or pseudodeficiency results reported anxiety and vulnerability levels similar to those with true positive or inconclusive results.
  • Interviews revealed persistent uncertainty and worry among some parents, regardless of their child's final diagnosis.

Conclusions:

  • Positive NBS results for LSDs can lead to prolonged psychosocial distress for families, even in the absence of a confirmed diagnosis.
  • Reducing false positive rates in NBS and providing enhanced genetic counseling are crucial for mitigating parental burden.
  • Further research is needed to develop targeted support strategies for families affected by NBS results.
Abstract

Keywords:
ExperienceLysosomal storage disordersNewborn screeningPsychosocial

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