ArticleMolecular genetics and metabolism reports2019
Emotional experience in parents of children with Zellweger spectrum disorders: A qualitative study.
Article in Molecular genetics and metabolism reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 2 of them syntheses that pooled it.
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Who cites it
10 citing papers in PubMed, 2 syntheses or guidelines pooled it, 23 citations in OpenAlex.
- The psychosocial impact of childhood dementia on children and their parents: a systematic review.Orphanet journal of rare diseases · 2023Pooled it
- Pooled it
- "I felt like a lone ranger": experiences of Australian families living with KIF1A-Associated Neurological Disorder.Journal of community genetics · 2026Article
- Coping with the challenges of caregiving: A qualitative exploration of the experiences of family caregivers of children with rare diseases in South Africa.Journal of genetic counseling · 2026Article
- Comparison of Caregiver-Reported Dietary Intake Methods in Zellweger Spectrum Disorder.Nutrients · 2025Article
- "Your Life Turns Upside Down": A Qualitative Study of the Experiences of Parents with Children Diagnosed with Phelan-McDermid Syndrome.Children (Basel, Switzerland) · 2022Article
- Carer burden in rare inherited diseases: a literature review and conceptual model.Orphanet journal of rare diseases · 2022Review
- The Lived Experience of Parents' Receiving the Diagnosis of CDKL5 Deficiency Disorder for Their Child.Journal of child neurology · 2022Article
- Coping with Wolf-Hirschhorn syndrome: quality of life and psychosocial features of family carers.Orphanet journal of rare diseases · 2020Article
- Perceived burden in dealing with different rare diseases: a qualitative focus group study.BMJ open · 2019Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
Abstract
Zellweger spectrum disorders (ZSDs) are rare, debilitating genetic diseases of peroxisome biogenesis that require constant management and lifelong care. Nevertheless, the experience of family caregivers for children diagnosed with ZSD is not well understood. In this study, we sought to characterize the emotional experience of ZSD family caregivers. Three 90-min focus groups were conducted with thirty-seven parents (25 mothers and 12 fathers) of children with ZSD during a family advocacy conference. Focus groups were arranged by age of proband (Group 1: 0-4 years, Group 2: 5-10 years, Group 3: >11 years). Audio recordings of focus groups were transcribed and analyzed using software for coding purposes. Analyzed content was validated using peer debriefing, member checking, and method triangulation. Focus group results showed that nearly a third of ZSD caregivers described their overall emotional experience as a "rollercoaster." Additionally, three interconnected themes were identified: 1) range of emotions, 2) stressors, and 3) coping. Feeling overwhelmed and devastated were the most frequently described emotional responses. Corresponding stressors to these emotions included the burden of caregiver tasks associated with ZSD, and negative interactions with healthcare professionals. The most common coping strategies were acceptance of limitations of the diseases, redefining "normal" in the parenting experience, and advocating on behalf of the child and the patient community. This study underscores the profound emotional impact on parents who are caregivers for children with ZSDs, highlighting the utility of patient community feedback and qualitative approaches to fully characterize the overall family experience. Simple, targeted approaches focusing on improved communication between healthcare professionals and families, as well as offering resources for emotional support may greatly improve the lives of families living with ZSD and other rare pediatric diseases.
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Registered trials
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