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. 2023 Jul 28;18(7):e0288875.
doi: 10.1371/journal.pone.0288875. eCollection 2023.

Psychosocial impact at the time of a rare disease diagnosis

Juan Benito-Lozano  1   2 , Greta Arias-Merino  1 , Mario Gómez-Martínez  1 , Beatriz Arconada-López  3 , Begoña Ruiz-García  4 , Manuel Posada de la Paz  1   5 , Verónica Alonso-Ferreira  1   6
Affiliations

Psychosocial impact at the time of a rare disease diagnosis

Juan Benito-Lozano et al. PLoS One. .

Abstract

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.

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Conflict of interest statement

The authors have declared that no competing interests exist.

Figures

Fig 1
Fig 1. Principal component analysis (PCA) of psychological impact of diagnostic delay on people affected by RDs.
Fig 2
Fig 2. Social implications (sum of component 2) and functional impact (sum of component 3) on persons with diagnostic delay versus those diagnosed within a year.
Mean is represented in squares and CI in bars.
Fig 3
Fig 3. Social implications variables (component 2) on persons with diagnostic delay versus those diagnosed within a year.
Mean is represented in squares and CI in bars.
Fig 4
Fig 4. Functional repercussions of the disease variables (component 3) on persons with diagnostic delay versus those diagnosed within a year.
Mean is represented in squares and CI in bars.
See this image and copyright information in PMC

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