Psychosocial impact at the time of a rare disease diagnosis.

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.

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

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.

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

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.

[Diagnostic delay in rare diseases: systematic review.].

Background: The aims of the International Consortium for Rare Diseases Research (IRDiRC) include that the diagnosis of a known rare disease (RD) must be made within a year. The objective of this systematic review was to identify the scientific evidence about the time to diagnosis in patients affected by RDs and also to know if there is a diagnostic delay (more than one year) according to the objective set by the IRDiRC.

Methods: A systematic review was carried out according to PRISMA criteria in the PubMed, Scopus and Web of Science (WoS) databases.