SynthesisMolecular genetics & genomic medicine2017
Living with a rare disorder: a systematic review of the qualitative literature.
Synthesis in Molecular genetics & genomic medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 156 papers, 7 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
156 citing papers in PubMed, 7 syntheses or guidelines pooled it.
- A systematic review of studies that estimated the burden of chronic non-communicable rare diseases using disability-adjusted life years.Orphanet journal of rare diseases · 2024Pooled it
- Quality of life of pediatric and adult individuals with osteogenesis imperfecta: a meta-analysis.Orphanet journal of rare diseases · 2023Pooled it
- Perception of Social and Educational Quality of Life of Minors Diagnosed with Rare Diseases: A Systematic Review and Meta-Analysis.International journal of environmental research and public health · 2023Pooled it
- Children with a rare congenital genetic disorder: a systematic review of parent experiences.Orphanet journal of rare diseases · 2022Pooled it
- Adults' experiences of living with pulmonary hypertension: a thematic synthesis of qualitative studies.BMJ open · 2020Pooled it
- Quality of life in people with epidermolysis bullosa: a systematic review.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2020Pooled it
- Living with a rare disorder: a systematic review of the qualitative literature.Molecular genetics & genomic medicine · 2017Pooled it
- Trial
- Feasibility and safety of sailing based rehabilitation for rare skeletal disorders using wearable sensors and patient reported outcomes.Scientific reports · 2025Trial
- Trial
- Experiences and Information Needs of Families of Children With Organic Acid or Fatty Acid Metabolism Disorders in Japan.Journal of genetic counseling · 2026Article
- Health service access and delivery for people living with rare disorders: a scoping review.Orphanet journal of rare diseases · 2026Article
- The rare disease tree: adolescent voices, family narratives, and health professionals' views in Greece.European journal of pediatrics · 2026Article
- For Me, Quality of Life Is When I Get Through the Day Without Thinking: I Won't Make It: A Participatory Qualitative Study of Health-Related Quality of Life in Rare Liver Diseases.Health expectations : an international journal of public participation in health care and health policy · 2026Article
- Time poverty of families of children with 22q11DS: a healthcare professional perspective.BMC pediatrics · 2026Article
- Exploring the Intersection of Rare Diseases and Mental Health Within the Diagnostic Odyssey: A Narrative Review and Thematic Synthesis.Nursing open · 2026Review
- Hereditary gynecological cancer management in women with Lynch syndrome: a survey across Europe.Familial cancer · 2026Article
- Improving Lifelong Comprehensive Care Coordination in Nephropathic Cystinosis: Multidisciplinary Perspectives.Kidney international reports · 2026Review
- Cost analysis of financial, productivity, and informal care burdens in families raising children with congenital anomalies.Health economics review · 2026Article
- Optimizing recruitment in rare disease research: a cross-sectional online study evaluating sampling strategies for hard-to-reach populations.Orphanet journal of rare diseases · 2026Article
96 more citing papers are in PubMed but not listed here.
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.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundIndividuals with rare diseases may face challenges that are different from those experienced in more common medical conditions. A wide range of different rare conditions has resulted in a myriad of studies investigating the specificities of the diagnosis in focus. The shared psychological experiences of individuals with a rare condition, however, have not been reviewed systematically.
methodsWe performed a systematic review, including qualitative studies on adults, published between 2000 and 2016. Papers including more than one rare genetic or nongenetic diagnosis were included. Studies based on single diagnoses were excluded except for four specific conditions: hemophilia (bleeding disorder), phenylketonuria (metabolic disorder), Fabry disease (lysosomal storage disorder), and epidermolysis bullosa (skin disorder).
resultsThe review identified 21 studies. Findings were synthesized and categorized according to three main themes: (1) Consequences of living with a rare disorder, (2) Social aspects of living with a rare disorder, and (3) Experiences with the health care system. Findings point to several unique challenges, such as the psychological, medical, and social consequences of a lack of knowledge about the condition in health care and social settings.
conclusionThe findings highlight the need for more research on the shared psychological and social impact of living with a rare diagnosis across conditions, in order to identify risk factors and inform clinical practice.
Indexed as
Identifiers
What OpenQuestion holds
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.