# Caregivers’ Emotional Responses Triggered by a False-Positive VLCADD in Newborn Screening in Oita Prefecture

## TL;DR

This study explores the emotional impact on caregivers whose infants had false-positive results for a metabolic disorder in Japan, finding that anxiety decreased over time as infants showed normal growth.

## Contribution

The study provides insights into caregivers' emotional responses and long-term psychological outcomes following false-positive newborn screening results for VLCADD.

## Key findings

- Caregivers of infants with false-positive VLCADD results initially experienced anxiety but saw reduced stress as infants grew normally.
- No significant differences in physical growth were observed between false-positive and normal screening groups by age 3.5.
- Mothers expressed regret about breastfeeding but not about the screening outcome itself.

## Abstract

Neonatal screening programs for inborn errors of metabolism are essential for early diagnosis and intervention. However, false-positive results can cause unnecessary psychological stress for caregivers. This study investigated the emotional impact on a small number of caregivers in Oita Prefecture in Japan, whose infants received false-positive screening results for very long-chain acyl-CoA dehydrogenase deficiency (VLCADD). Particular attention was given to caregivers’ concerns regarding episodes of transient fasting suggestive of nutritional deficiency, as well as their perspectives on appropriate feeding practices for newborns. Nineteen infants in Oita Prefecture were identified as having elevated acylcarnitines, which were later confirmed as false positives. Of these cases, 11 mothers consented to participate in a survey and long-term growth evaluation using health check records. Thirty children with normal screening results were included as controls. While no differences in physical growth were found between groups by 3.5 years of age, some mothers of false-positive infants reported persistent anxiety. Their concerns included regret for inadequate breastfeeding and latent adverse effects on long-term growth or development. Conversely, caregivers’ anxiety diminished over time as they directly observed their infants’ normal growth and development. No regret was expressed regarding breastfeeding, and concerns about VLDCAD were not observed. Caregivers’ responses may help reduce their psychological burden.