ArticlePloS one2023
Psychosocial impact at the time of a rare disease diagnosis.
Article in PloS one, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Capturing Real-World Rare Disease Patient Journeys: Are Current Methodologies Sufficient for Informed Healthcare Decisions?Journal of evaluation in clinical practice · 2025Pooled it
- Feasibility and safety of sailing based rehabilitation for rare skeletal disorders using wearable sensors and patient reported outcomes.Scientific reports · 2025Trial
- Patient pathways for rare liver diseases: a European template developed by ERN RARE-LIVER.Orphanet journal of rare diseases · 2026Review
- Exploring needs and priorities in digital health management for rare disease patients and their caregivers: A mixed-methods study.PLOS digital health · 2026Article
- Repercussions of Diagnostic Delay in Rare Diseases.Journal of genetic counseling · 2026Review
- Artificial Intelligence in Rare Diseases: Workflow-Integrated Precision Kidney Care.Clinics and practice · 2026Review
- Coping Strategies and Sense of Care Among Parents of Children Affected by Sturge-Weber Syndrome: A Cross-Sectional Study.Nursing reports (Pavia, Italy) · 2026Article
- Patient journey with Charcot-Marie-Tooth Disease - A German patient survey study.Orphanet journal of rare diseases · 2026Article
- Spiritual Coping and Duration Since Diagnosis Associated With Quality of Life Among Women With HIV: A Cross-Sectional Study.AIDS research and treatment · 2026Article
- What Is at Stake in Genetic Newborn Screening for Rare Diseases? An Exploratory Qualitative Study of Parents' and Expectant Parents' Concerns in the Screen4Care Project.Public health genomics · 2026Article
- ZebraMap: A Multimodal Rare Disease Knowledge Map with Automated Data Aggregation & LLM-Enriched Information Extraction Pipeline.Diagnostics (Basel, Switzerland) · 2025Article
- Association of self-stigma, impulsivity, and insomnia with anxiety and depression in patients with Kallmann syndrome.Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2025Article
- Osteogenesis imperfecta and the family: A qualitative analysis of the experiences of family and caregivers.Families, systems & health : the journal of collaborative family healthcare · 2025Article
- Navigating the psychosocial landscape of Ehlers-Danlos syndrome: an autobiographic case study.Discover mental health · 2025Article
- Patient experience with pulmonary hypertension in Spain.Orphanet journal of rare diseases · 2025Article
- Psychological supports for people living with a rare disease in Ireland: an online survey-based study.Irish journal of medical science · 2025Article
- Advancing precision diagnostics: minimally invasive approaches for understanding the role of brain-limited somatic mutations in pediatric drug-resistant epilepsy.Frontiers in surgery · 2025Review
- The burden of disease in seronegative myasthenia gravis: a patient-centered perspective.Frontiers in immunology · 2025Observational
- A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions.Frontiers in public health · 2025Article
- Spinal muscular atrophy carrier screening program: awareness and attitude of healthcare professionals in Turkey.Journal of community genetics · 2024Article
Corrections and comments
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Over half of all persons with rare diseases (RDs) in Spain experience diagnostic delay (DD) but little is known about its consequences. This study therefore aimed to analyze the psychological impact of obtaining a diagnosis of an RD, and to ascertain what social determinants are influenced and what the personal consequences are, according to whether or not patients experienced DD. Data were obtained from a purpose-designed form completed by persons registered at the Spanish Rare Diseases Patient Registry. The following were performed: a descriptive analysis; a principal component analysis (PCA); and logistic regressions. Results revealed that while searching for a diagnosis, people who experienced DD were more in need of psychological care than those diagnosed in less than one year (36.2% vs 23.2%; p = 0.002; n = 524). The PCA identified three principal components, i.e., psychological effects, social implications, and functional impact. Reducing DD would improve psychological effects, such as irritability (OR 3.6; 95%CI 1.5-8.5), frustration (OR 3.4; 95%CI 1.7-7.1) and concentration on everyday life (OR 3.3; 95%CI 1.4-7.7). The influence of the social implications and functional repercussions of the disease was greater in persons with DD (scores of 22.4 vs 20 and 10.6 vs 9.4, respectively) in terms of the difficulty in explaining symptoms to close friends and family (3.3 vs 2.9), and loss of independence (3.3 vs 2.9). In conclusion, this is the first study to analyze the psychosocial impact of diagnosis of RDs in Spain and one of few to assess it in the patients themselves, based on data drawn from a purpose-designed form from a national registry open to any RD. People affected by RDs who underwent DD experienced greater psychosocial impact than did those who were diagnosed within the space of one year.
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