SynthesisOrphanet journal of rare diseases2022
Children with a rare congenital genetic disorder: a systematic review of parent experiences.
Synthesis in Orphanet journal of rare diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
48 citing papers in PubMed, 1 synthesis or guideline pooled it, 76 citations in OpenAlex.
- Assessing Psychological Harms on Parents and Primary Caregivers of Children Living with a Rare Disease: A Systematic Review of the Scope and Validity of Surveys Utilized.Clinical child and family psychology review · 2025Pooled it
- Lived experiences of parents of children with genetic and neurodevelopmental disorders accessing genetic services in Rwanda: barriers and enablers.Journal of community genetics · 2026Article
- Parents' experiences of diagnosis and specialist care of children's rare birthmarks.British journal of health psychology · 2026Article
- Parental Goals of Care for Children With Rare Diseases: A Content Analysis of Pediatric Advance Care Planning Conversations.The American journal of hospice & palliative care · 2026Article
- Lived experiences in rare genetic diseases: a narrative synthesis of 317 qualitative studies (2004-2024).European journal of human genetics : EJHG · 2026Review
- The future of pediatric gene therapy: CRISPR-Cas9, AI, and personalized medicine.Pediatric research · 2026Review
- "If I go down, if I crumble, then everybody does" - identity crisis and emotional strain in parents of children with rare and undiagnosed conditions: a qualitative study.Orphanet journal of rare diseases · 2026Article
- Integrative Literature Review on the Lived Experiences of Parents of Children with a Rare Disease.Healthcare (Basel, Switzerland) · 2026Review
- Disease modifying therapies for children with spinal muscular atrophy - parents' experiences of hopes, grief and need for rehabilitation for their child.Journal of neuromuscular diseases · 2026Article
- Defining joy after a genetic diagnosis: A narrative inquiry.Journal of genetic counseling · 2026Article
- Navigating Glycogen Storage Disease: The Spiritual and Cultural Journeys of Jordanian Mothers.Journal of religion and health · 2026Article
- Social support and maternal caregiving burden in families of children with Angelman syndrome in China: the mediating role of self-stigma.BMC psychology · 2026Article
- Health care, social, educational, and employment needs of individuals affected by rare diseases and their families in Catalonia, Spain.Orphanet journal of rare diseases · 2026Article
- Exploring the Illness Experience of Patients with Central Nervous System Hemangioblastomas in Von Hippel-Lindau Disease: A Qualitative Study.Healthcare (Basel, Switzerland) · 2026Article
- Beyond illness severity: transdiagnostic cognitive vulnerabilities as independent predictors of psychological distress in parents of children with rare genetic disorders.Frontiers in psychiatry · 2026Article
- What kind of information is requested by patients and families with genetic disorders? : The analysis of an online patient community in South Korea.Journal of community genetics · 2025Article
- "I don't grieve as much as I used to": A qualitative study on parents of children with rare and undiagnosed conditions navigating grief in the context of uncertainty.Journal of genetic counseling · 2025Article
- Insights into Support Systems for Orphan Drug Development: A Comparative Study.Therapeutic innovation & regulatory science · 2025Review
- My A-T pack: a qualitative study of the utility, acceptability, design, and content of a family-designed and owned information pack relevant to the lives of children and young people living with ataxia telangiectasia.Orphanet journal of rare diseases · 2025Article
- Parental health literacy in anorectal malformation: needs and challenges.Pediatric surgery international · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCaring for a child with a chronic disease may be demanding and stressful. When a child has a rare condition, the impact of care on parents is amplified due to the rarity of the diagnosis. In order to address the lack of generalized and synthesized knowledge regarding parents' experiences of having a child with a rare genetic disorder, and give a holistic picture of these experiences, a systematic review of the available qualitative research was conducted.
methodsWe performed a systematic review, including qualitative studies on parents of children with rare genetic disorders, published between 2000 and 2020.
resultsThe review included 33 qualitative studies. Findings were synthesized and categorized according to three main themes: Parents' experiences with health care, Responsibilities and challenges, and Factors promoting positive experiences in parents. The findings demonstrate that parents of children with rare genetic disorders share many common challenges, despite evident differences across conditions.
conclusionCoordinated care, and a more holistic approach in the follow up of children with rare genetic disorders is needed. International collaboration on research, diagnostics, producing scientific correct and understandable information available for health care professionals and lay people should be prioritized.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.