Diagnostic delay in rare diseases in the Campania region: addressing ageing, gender disparities, and the "postcode lottery effect" to reduce the patient odyssey.
IF 3.7 3区 医学Q1 PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH
Chiara Cirillo, Rossella Duraccio, Mario Fordellone, Emanuele Monda, Bruno De Rosa, Chiara De Stasio, Anna Francesca Smimmo, Anna Fusco, Salvatore Rega, Martina Caiazza, Francesca Marzullo, Raffaele Scarpa, Gioacchino Scarano, Antonio Postiglione, Pietro Buono, Ugo Trama, Massimo Di Gennaro, Giuseppe Borriello, Maria Galdo, Barbara Morgillo, Paolo Chiodini, Giuseppe Limongelli
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引用次数: 0
Abstract
Our study assessed the time to diagnosis of rare diseases (RDs) in Campania and whether there are determinants of diagnostic delay (DD). Demographic characteristics, date of first medical contact and diagnosis, disease macro-groups, and area of residence of patients were recorded. DD was calculated as the time elapsed (in years) from the onset of symptoms to the RD diagnosis date. Based on the Rare Disease Research Consortium consensus document, a time to diagnosis more than one year was considered DD. A multilevel logistic regression was performed. Seven thousand nine hundred and nine patients were included in the analysis; 47.4% were male. The mean DD was 3.4 years and 46% of patients experienced DD. Predictors of DD were female gender (OR 0.90, 95% CI 0.80-0.98, P < .005), age at diagnosis (OR 1.36, 95% CI 1.27-1.45, P < .001), and province of residence (residence in Naples vs. others; OR 0.80, 95% CI 0.73-0.88, P < .001). Immunological, connective tissue, digestive, genitourinary system diseases, and congenital malformations showed more DD than other disorders. Nearly half of the patients with RD experienced DD. The main determinants of DD were female sex, older age at diagnosis.
我们的研究评估了坎帕尼亚地区罕见病(RDs)的诊断时间,以及是否存在诊断延迟(DD)的决定因素。记录患者的人口学特征、首次医疗接触和诊断日期、疾病宏观人群和居住地区。DD是根据从症状出现到RD诊断日期的时间(以年为单位)计算的。根据罕见病研究联盟的共识文件,诊断时间超过一年被认为是DD。进行多水平逻辑回归。7900名患者被纳入分析;47.4%为男性。平均DD为3.4年,46%的患者经历过DD。DD的预测因子为女性(OR 0.90, 95% CI 0.80-0.98, P
期刊介绍:
The European Journal of Public Health (EJPH) is a multidisciplinary journal aimed at attracting contributions from epidemiology, health services research, health economics, social sciences, management sciences, ethics and law, environmental health sciences, and other disciplines of relevance to public health. The journal provides a forum for discussion and debate of current international public health issues, with a focus on the European Region. Bi-monthly issues contain peer-reviewed original articles, editorials, commentaries, book reviews, news, letters to the editor, announcements of events, and various other features.