ArticleMolecular genetics and metabolism reports2020
Parental psychosocial aspects and stressors involved in the management of inborn errors of metabolism.
Article in Molecular genetics and metabolism reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- Examining the role of social workers within clinical metabolic genetics care.Molecular genetics and metabolism reports · 2026Review
- The impacts of caring for children with inherited metabolic diseases for families: a cross-sectional study.Orphanet journal of rare diseases · 2026Article
- Perceived severity and parental distress after positive expanded newborn screening: parent-clinician concordance and dyadic processes.European journal of pediatrics · 2026Article
- Trigger points of palliative care assessment in inherited metabolic diseases.Orphanet journal of rare diseases · 2025Review
- Nutritional management of metabolic disorders in neonates and infants in Saudi Arabia: consensus recommendations.Orphanet journal of rare diseases · 2025Article
- Psychosocial Challenges Facing Young People With Inherited Metabolic Disorders and Their Parents: A Systematic Review.JIMD reports · 2025Article
- The impact of a child's inborn error of metabolism: the parents' perspectives on restrictions, discrimination, family planning, and emergency management.Orphanet journal of rare diseases · 2024Article
- Ending an Odyssey? The Psychosocial Experiences of Parents after the Genetic Diagnosis of a Mitochondrial Disease in Children.Journal of personalized medicine · 2024Article
- Becoming a Rare Disease Parent: An Interpretative Phenomenological Analysis of Parent-Caregivers' Postpartum Experiences.Qualitative health research · 2024Article
- Shared Responsibility and Network Collaboration in Caregiving.Social networks · 2023Article
- Links of we-talk to caregiver social network systems and health.Journal of family psychology : JFP : journal of the Division of Family Psychology of the American Psychological Association (Division 43) · 2022Article
- Families' healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study.BMJ open · 2022Article
- Multidisciplinary Care of Patients with Inherited Metabolic Diseases and Epilepsy: Current Perspectives.Journal of multidisciplinary healthcare · 2022Review
- Evaluating psychosocial stressors in families of children with inborn errors of metabolism.Molecular genetics and metabolism reports · 2021Article
Corrections and comments
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Parents of children with inborn errors of metabolism (IEM) face numerous psychosocial challenges. An increased understanding and awareness of these stressors can ensure better overall outcomes for the entire family. We conducted semi-structured, in-person interviews with ten parents to identify psychosocial stressors, strategies, and supports they utilized to overcome their challenges. Our interview guide was designed to elicit familial experiences during the pre- and post-diagnosis periods. The themes and sub-themes were identified through qualitative descriptive textual analysis of audio-recorded transcripts. Major themes identified include ambiguity of illness, changing family and spousal dynamics, and navigating the healthcare system. Sub-themes revolved around disease effects, psychological stressors, health systems, support, and facing the disease. Healthcare professionals have an opportunity to minimize the impact of negative emotional outcomes by assisting families as they navigate the experience of having a child with an IEM. Our findings can be used to develop and continue a more well-rounded, family-oriented framework for IEM management.
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