ArticleOrphanet journal of rare diseases2024
The impact of a child's inborn error of metabolism: the parents' perspectives on restrictions, discrimination, family planning, and emergency management.
Article in Orphanet journal of rare diseases, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Experiences and Information Needs of Families of Children With Organic Acid or Fatty Acid Metabolism Disorders in Japan.Journal of genetic counseling · 2026Article
- Perceived severity and parental distress after positive expanded newborn screening: parent-clinician concordance and dyadic processes.European journal of pediatrics · 2026Article
- Nutritional management of metabolic disorders in neonates and infants in Saudi Arabia: consensus recommendations.Orphanet journal of rare diseases · 2025Article
- Perspectives of pediatric patients with inborn errors of metabolism on long-term treatment and metabolic emergency management.Orphanet journal of rare diseases · 2025Article
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Authors and funding
8 authors.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundTo investigate the impact of children's inborn error of metabolism (IEMs) on the children's and their parents' lives from the parents' perspective. We focused on disease-related restrictions in various issues of daily life, experienced discrimination, parental family planning, and management of metabolic emergencies.
methodsWe conducted a questionnaire-based survey with 108 parents of 119 children with IEM who attended a metabolic outpatient clinic. The children were categorized into 4 cohorts, based on increasing disease severity (cohort 1: IEMs with lowest severity, cohort 4: IEMs with highest severity), and compared by using Tobit regressions.
resultsThe severity of the child's IEM was associated with an increase in the intensity of perceived restrictions from the parents' perspective for themselves and their children in all aspects of life: in general, in contact with friends, in the pursuit of hobbies, in childcare/school/occupation, and due to emotional stress. The highest intensity of restrictions in all cohorts was found for the parents themselves in contact with friends (compared to cohort 1: cohort 2: c. 3.556, p = 0.002; cohort 3: c. 4.159, p = 0.003; cohort 4: c. 7.224, p < 0.001). Parents of 8% of children reported that their children were discriminated against because of IEM, with the highest proportion of affected children (43%) in cohort 4. Parental family planning decisions were influenced in 34% of parents, with fear of recurrence being a predominant aspect. Of the parents of children diagnosed with IEMs associated with metabolic emergencies, 68% stated that they felt well or very well prepared for the occurrence of a metabolic emergency, and 100% of parents were able to name the necessary action steps from memory. Nevertheless, 58% stated that they experienced an occurring emergency as rather or very stressful.
conclusionsFrom the parents' perspective, the intensity of restrictions increased with the severity of the child's IEM. The study shows the high impact of IEM on parents of children with IEM and the daily challenges they face. These findings emphasize the importance of comprehensive support for parents of children with IEM.
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