Ragusa Letizia, Crinò Antonio, Grugni Graziano, Reale Luigi, Fiorencis Alessandra, Licenziati Maria Rosaria, Faienza Maria Felicia, Wasniewska Malgorzata, Delvecchio Maurizio, Franzese Adriana, Rutigliano Irene, Fusilli Paola, Corica Domenico, Campana Giuseppina, Greco Donatella, Chiarito Mariangela, Sacco Michele, Toscano Silvia, Marini Maria Giulia
Unit of Paediatrics and Medical Genetics, OASI Maria SS Research Institute, Troina, Enna, Italy.
Autoimmune Endocrine Diseases Unit, Bambino Gesù Paediatric Hospital-Palidoro Research Institute, Rome, Italy.
BMJ Open. 2020 Aug 6;10(8):e036502. doi: 10.1136/bmjopen-2019-036502.
Prader-Willi syndrome (PWS) significantly impacts health-related quality of life; however, its relational and existential aspects remain unknown in Italian clinical and social debate. The project aimed to investigate the impact of PWS on illness experience through narrative medicine (NM) to understand the daily life, needs and resources of patients with PWS and their caregivers, and to furnish insights for clinical practice.
The project involved 10 medical centres of the Italian Network for Rare Diseases and PWS family associations and targeted underage and adult patients with PWS and their caregivers. Written interviews, composed by a sociodemographic survey and a narrative, were collected through the project's website. Three dedicated illness plots employed evocative and open words to facilitate individual expression and to encourage reflection. Narratives were analysed through NVivo software. Researchers discussed the results with the project's steering committee.
Twenty-one children and adolescents and 34 adults with PWS joined the project, as well as 138 caregivers. A PWS diagnosis or the caregiving of a patient with PWS older than 5 years represented the eligibility criteria, as well as the willingness to share their illness experience by writing and the ability to communicate in Italian.
The analysis of narratives led to understanding the PWS social and relational issues concerning diagnosis and current management, PWS daily experiences and social contexts, PWS implications in the working sphere and participants' future perspectives. Narratives demonstrated that PWS management affects relationships and work-life balance and that social stigma remains present.
The project represented the first effort to investigate the impact of PWS on illness experience in Italy through NM while considering the perspectives of patients with PWS and their caregivers. The findings indicated that a multiprofessional approach is fundamental to ensure adequate treatment and provided elements for its improvement.
普拉德-威利综合征（PWS）对健康相关生活质量有显著影响；然而，在意大利的临床和社会讨论中，其人际关系和生存方面仍不为人知。该项目旨在通过叙事医学（NM）研究PWS对疾病体验的影响，以了解PWS患者及其照顾者的日常生活、需求和资源，并为临床实践提供见解。
该项目涉及意大利罕见病网络的10个医疗中心以及PWS家庭协会，目标是PWS未成年和成年患者及其照顾者。通过项目网站收集由社会人口学调查和一篇叙述组成的书面访谈。三个专门的疾病情节使用了唤起性和开放性的词汇，以促进个人表达并鼓励反思。通过NVivo软件对叙述进行分析。研究人员与项目指导委员会讨论了结果。
21名儿童和青少年以及34名成年PWS患者加入了该项目，还有138名照顾者。PWS诊断或照顾5岁以上的PWS患者代表了入选标准，以及通过写作分享疾病体验的意愿和用意大利语交流的能力。
对叙述的分析有助于理解PWS在诊断和当前管理方面的社会和人际关系问题、PWS的日常经历和社会背景、PWS在工作领域的影响以及参与者的未来展望。叙述表明，PWS的管理会影响人际关系和工作与生活的平衡，并且社会污名仍然存在。
该项目是意大利首次通过NM研究PWS对疾病体验的影响，同时考虑了PWS患者及其照顾者的观点。研究结果表明，多专业方法对于确保充分治疗至关重要，并为其改进提供了要素。
