Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.
Universidad Nacional de Educación a Distancia (UNED), Madrid, Spain.
PLoS One. 2023 Jul 28;18(7):e0288875. doi: 10.1371/journal.pone.0288875. eCollection 2023.
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.
超过一半的西班牙罕见病（RD）患者经历了诊断延迟（DD），但对其后果知之甚少。因此，本研究旨在分析获得 RD 诊断后的心理影响，并确定根据患者是否经历 DD，哪些社会决定因素受到影响以及个人后果是什么。数据来自西班牙罕见病患者登记处专门设计的表格。完成了以下操作：描述性分析；主成分分析（PCA）；和逻辑回归。结果表明，在寻找诊断的过程中，经历 DD 的患者比在一年内被诊断的患者更需要心理护理（36.2%对 23.2%；p=0.002；n=524）。PCA 确定了三个主要成分，即心理影响、社会影响和功能影响。减少 DD 将改善心理影响，例如易怒（OR 3.6；95%CI 1.5-8.5）、沮丧（OR 3.4；95%CI 1.7-7.1）和日常生活注意力集中（OR 3.3；95%CI 1.4-7.7）。在经历 DD 的患者中，疾病的社会影响和功能影响更大（22.4 对 20 和 10.6 对 9.4，分别），在向亲密朋友和家人解释症状的困难程度方面（3.3 对 2.9），以及丧失独立性（3.3 对 2.9）。总之，这是第一项分析西班牙 RD 诊断的心理社会影响的研究，也是为数不多的根据来自向任何 RD 开放的国家登记处的专门设计表格中患者自己的数据评估其影响的研究之一。经历 DD 的 RD 患者经历了更大的心理社会影响，而在一年内被诊断出的患者则没有。
