Diagnostic Process in Rare Diseases: Determinants Associated with Diagnostic Delay.

ABSTRACT: Many 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 usual

SUBMITTER: Benito-Lozano J 

PROVIDER: S-EPMC9180264 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature