Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry.

ABSTRACT:

Background

According 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.

Methods

Using 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

SUBMITTER: Benito-Lozano J 

PROVIDER: S-EPMC9670379 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature