ArticleOrphanet journal of rare diseases2022
Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry.
Article 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 34 papers.
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Who cites it
34 citing papers in PubMed, 49 citations in OpenAlex.
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- A mixed methods study of the impact of WAGR spectrum disorder on individuals and their caregivers.Orphanet journal of rare diseases · 2026Article
- Article
- 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
- Lived Experiences of Patients With Rare Diseases and Healthcare System Barriers: A Phenomenological Study.Journal of nursing management · 2026Article
- ZebraMap: A Multimodal Rare Disease Knowledge Map with Automated Data Aggregation & LLM-Enriched Information Extraction Pipeline.Diagnostics (Basel, Switzerland) · 2025Article
- Factors associated with diagnostic delays in Peruvian patients with rare diseases.Intractable & rare diseases research · 2025Article
- Diagnostic delay in rare diseases in the Campania region: addressing ageing, gender disparities, and the "postcode lottery effect" to reduce the patient odyssey.European journal of public health · 2025Article
- Epidemiology and Surgical Management of Hirschsprung's Disease in France: A 12-Year Retrospective Analysis (2012-2023).Acta paediatrica (Oslo, Norway : 1992) · 2025Article
- Identifying the Diagnostic Challenges and Indicators of Orthostatic Tremor: Patient Perspectives.Movement disorders clinical practice · 2025Article
- Bridging psychiatry and rare genetic diseases: a scoping review of therapeutic strategies and diagnostic delay paired with healthcare economic burden analysis.Orphanet journal of rare diseases · 2025Article
- Functional assays inGenome research · 2025Review
- Transforming NICU care: rapid WES and transcriptomics-validation, social impact, and cost analysis.European journal of pediatrics · 2025Article
- The impact of 22q11.2 deletion syndrome on caregivers: assessing quality of life and burden.Orphanet journal of rare diseases · 2025Article
- Caregivers' experiences and challenges of the diagnostic odyssey in Dravet syndrome.Orphanet journal of rare diseases · 2025Article
- The cost of the diagnostic odyssey of patients with suspected rare diseases.Orphanet journal of rare diseases · 2025Article
- Epiphyseal osteosarcoma with serial changes of pretreatment imaging findings: a case report.World journal of surgical oncology · 2025Article
- Rising to the Challenge of Rare Diagnoses.Journal of general internal medicine · 2025Article
- A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions.Frontiers in public health · 2025Article
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAccording to the International Rare Diseases Research Consortium (IRDiRC), a known rare disease (RD) should be diagnosable within a year. This study sought: firstly, to ascertain how long it takes to obtain the diagnosis of a RD in Spain, along with its associated time trend; and secondly, to identify and measure diagnostic delay (defined by the IRDiRC as any period exceeding a year) by reference to the characteristics of RDs and the persons affected by them.
methodsUsing data sourced from the Spanish Rare Diseases Patient Registry, we performed a descriptive analysis of the time elapsed between symptom onset and diagnosis of each RD, by sex, age and date of symptom onset, and type of RD. We analysed the time trend across the period 1960-2021 and possible change points, using a Joinpoint regression model and assuming a Poisson distribution. The multivariate analysis was completed with backward stepwise logistic regression.
resultsDetailed information was obtained on 3304 persons with RDs: 56.4% had experienced delay in diagnosis of their RDs, with the mean time taken being 6.18 years (median = 2; IQR 0.2-7.5). Both the percentage of patients with diagnostic delay and the average time to diagnosis underwent a significant reduction across the study period (p < 0.001). There was a higher percentage of diagnostic delays: in women (OR 1.25; 95% CI 1.07-1.45); in cases with symptom onset at age 30-44 years (OR 1.48; 95% CI 1.19-1.84): and when analysed by type of RD, in mental and behavioural disorders (OR 4.21; 95% CI 2.26-7.85), followed by RDs of the nervous system (OR 1.39; 95% CI 1.02-1.88).
conclusionsThis is the first study to quantify time to diagnosis of RDs in Spain, based on data from a national registry open to any RD. Since over half of all persons affected by RDs experience delay in diagnosis, new studies are needed to ascertain the factors associated with this delay and the implications this has on the lives of patients and their families.
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