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. The following were performed: a descriptive analysis; a principal component analysis (PCA); and logistic regressions. Results revealed that while searching for a diagnosis, people who experienced DD were more in need of psychological care than those diagnosed in less than one year (36.2% vs 23.2%; p = 0.002; n = 524). The PCA identified three principal components, i.e., psychological effects, social implications, and functional impact. Reducing DD would improve psychological effects, such as irritability (OR 3.6; 95%CI 1.5-8.5), frustration (OR 3.4; 95%CI 1.7-7.1) and concentration on everyday life (OR 3.3; 95%CI 1.4-7.7). The influence of the social implications and functional repercussions of the disease was greater in persons with DD (scores of 22.4 vs 20 and 10.6 vs 9.4, respectively) in terms of the difficulty in explaining symptoms to close friends and family (3.3 vs 2.9), and loss of independence (3.3 vs 2.9). In conclusion, this is the first study to analyze the psychosocial impact of diagnosis of RDs in Spain and one of few to assess it in the patients themselves, based on data drawn from a purpose-designed form from a national registry open to any RD. People affected by RDs who underwent DD experienced greater psychosocial impact than did those who were diagnosed within the space of one year.

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. 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. RESULTS: Detailed 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). CONCLUSIONS: This 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.

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. 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.

[Diagnostic delay in rare diseases: systematic review.] / Retraso diagnóstico en enfermedades raras: revisión sistemática.

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. The quality of the articles was assessed using the STROBE statement. RESULTS: 17 articles were included. They were devoted to specific RDs, most of them metabolic diseases, neurological and disorders that affect immunity. The study designs were mainly cross-sectional, and two retrospective cohorts were also included. Most articles showed that it takes more than a year to get a diagnosis for these RDs. CONCLUSIONS: Scientific literature quantifying the time to diagnosis is still scarce and no study addresses RDs as a whole. In most cases, it takes more than one year to obtain a diagnosis of a RD, so there is an obvious delay according to the objective set by the IRDiRC. Therefore, new advances in the RD field are necessary to reduce the time from the onset of symptoms to the accurate diagnosis.

OBJETIVO: Según el Consorcio Internacional para la Investigación de Enfermedades Raras (IRDiRC) el diagnóstico de una enfermedad rara (ER) conocida debería hacerse en el plazo de un año. El objetivo de esta revisión sistemática fue identificar las evidencias científicas sobre el tiempo que transcurre hasta obtener el diagnóstico en pacientes con ER y conocer si se produce retraso, conforme al objetivo del IRDiRC (más de un año). METODOS: Se realizó una revisión sistemática según criterios PRISMA en las bases de datos PubMed, Scopus y Web of Science (WoS). Se valoró la calidad de los estudios incluidos conforme a la declaración STROBE. RESULTADOS: Se incluyeron 17 artículos orientados a ER específicas, principalmente metabólicas, neurológicas y trastornos que afectan a la inmunidad. Los diseños fueron fundamentalmente transversales, aunque también se incluyeron dos de cohorte retrospectivos. La mayoría de los estudios reflejan que se emplea más de un año en obtener el diagnóstico de estas ER. CONCLUSIONES: La literatura científica que cuantifica el tiempo hasta el diagnóstico en ER es aún escasa y ningún estudio se orienta a estas enfermedades en su conjunto. Según el objetivo del IRDiRC, existe un evidente retraso en el diagnóstico de ER, ya que en la mayoría de los casos se requiere de un tiempo superior a un año. Por tanto, son necesarios nuevos avances en campo de las ER para contribuir a la reducción del tiempo desde la aparición de los síntomas hasta el diagnóstico adecuado.

Retraso diagnóstico en enfermedades raras: revisión sistemática / Diagnostic delay in rare diseases: systematic review

Fundamentos: Según el Consorcio Internacional para la Investigación de Enfermedades Raras (IRDiRC) el diagnóstico de una enfermedad rara (ER) conocida debería hacerse en el plazo de un año. El objetivo de esta revisión sistemática fue identificar las evidencias científicas sobre el tiempo que transcurre hasta obtener el diagnóstico en pacientes con ER y conocer si se produce retraso, conforme al objetivo del IRDiRC (más de un año). Métodos: Se realizó una revisión sistemática según criterios PRISMA en las bases de datos PubMed, Scopus y Web of Science (WoS). Se valoró la calidad de los estudios incluidos conforme a la declaración STROBE. Resultados: Se incluyeron 17 artículos orientados a ER específicas, principalmente metabólicas, neurológicas y trastornos que afectan a la inmunidad. Los diseños fueron fundamentalmente transversales, aunque también se incluyeron dos de cohorte retrospectivos. La mayoría de los estudios reflejan que se emplea más de un año en obtener el diagnóstico de estas ER. Conclusiones: La literatura científica que cuantifica el tiempo hasta el diagnóstico en ER es aún escasa y ningún estudio se orienta a estas enfermedades en su conjunto. Según el objetivo del IRDiRC, existe un evidente retraso en el diagnóstico de ER, ya que en la mayoría de los casos se requiere de un tiempo superior a un año. Por tanto, son necesarios nuevos avances en campo de las ER para contribuir a la reducción del tiempo desde la aparición de los síntomas hasta el diagnóstico adecuado.(AU)

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. The quality of the articles was assessed using the STROBE statement. Results: 17 articles were included. They were devoted to specific RDs, most of them metabolic diseases, neurological and disorders that affect immunity. The study designs were mainly cross-sectional, and two retrospective cohorts were also included. Most articles showed that it takes more than a year to get a diagnosis for these RDs. Conclusions: Scientific literature quantifying the time to diagnosis is still scarce and no study addresses RDs as a whole. In most cases, it takes more than one year to obtain a diagnosis of a RD, so there is an obvious delay accordingto the objective set by the IRDiRC. Therefore, new advances in the RD field are necessary to reduce the time from the onset of symptoms to the accurate diagnosis.(AU)