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dc.contributor.authorBenito-Lozano, Juan 
dc.contributor.authorArias-Merino, Greta 
dc.contributor.authorGómez-Martínez, Mario
dc.contributor.authorAncochea-Díaz, Alba
dc.contributor.authorAparicio-García, Aitor
dc.contributor.authorPosada De la Paz, Manuel 
dc.contributor.authorAlonso-Ferreira, Veronica
dc.identifier.citationInt J Environ Res Public Health. 2022 May 26;19(11):6456.es_ES
dc.description.abstractMany people living with rare disease (RD) report a difficult diagnostic process from the symptom onset until they obtain the definitive diagnosis. The aim of this study was thus to ascertain the diagnostic process in RDs, and explore the determinants related with having to wait for more than one year in this process (defined as “diagnostic delay”). We conducted a case–control study, using a purpose-designed form from the Spanish Rare Diseases Patient Registry for data-collection purposes. A descriptive analysis was performed and multivariate backward logistic regression models fitted. Based on data on 1216 patients living with RDs, we identified a series of determinants associated with experiencing diagnostic delay. These included: having to travel to see a specialist other than that usually consulted in the patient’s home province (OR 2.1; 95%CI 1.6–2.9); visiting more than 10 specialists (OR 2.6; 95%CI 1.7–4.0); being diagnosed in a region other than that of the patient’s residence at the date of symptom onset (OR 2.3; 95%CI 1.5–3.6); suffering from a RD of the nervous system (OR 1.4; 95%CI 1.0–1.8). In terms of time taken to see a specialist, waiting more than 6 months to be referred from the first medical visit was the period of time which most contributed to diagnostic delay (PAR 30.2%). In conclusion, this is the first paper to use a collaborative study based on a nationwide registry to address the diagnostic process of patients living with RDs. While the evidence shows that the diagnostic process experienced by these persons is complex, more studies are needed to determine the implications that this has for their lives and those of their families at a social, educational, occupational, psychological, and financial level.es_ES
dc.description.sponsorshipThis research was supported by the Spanish State Research Agency, State R&D Program Oriented to the Challenges of the Society, project no. RTI2018-094035-A-I00. J.B-L enjoys a Grant PRE2019-091508 funded by MCIN/AEI/10.13039/501100011033 by “ESF Investing in your future”.es_ES
dc.publisherMultidisciplinary Digital Publishing Institute (MDPI) es_ES
dc.subjectRare diseaseses_ES
dc.subjectDiagnostic odysseyes_ES
dc.subjectDiagnostic delayes_ES
dc.subjectTime to diagnosises_ES
dc.subjectDiagnostic processes_ES
dc.subjectPublic healthes_ES
dc.titleDiagnostic Process in Rare Diseases: Determinants Associated with Diagnostic Delayes_ES
dc.typejournal articlees_ES
dc.rights.licenseAtribución-NoComercial-CompartirIgual 4.0 Internacional*
dc.contributor.funderAgencia Estatal de Investigación (España) es_ES
dc.contributor.funderMinisterio de Ciencia e Innovación (España) es_ES
dc.identifier.journalInternational Journal of Environmental Research and Public Healthes_ES
dc.repisalud.centroISCIII::Instituto de Investigación de Enfermedades Rarases_ES
dc.rights.accessRightsopen accesses_ES

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Atribución-NoComercial-CompartirIgual 4.0 Internacional
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