背景:慢性疾病的诊断公告对于患者及其家人来说都是关键时刻,也是治疗罕见内分泌疾病等严重疾病的重要一步。对如何将诊断传达给患者和家人知之甚少。FIRENDO网络是由法国第三个罕见疾病计划创建的,为了促进自治,罕见内分泌疾病的护理和研究。
目的:本研究的目的是表征,第一次,患者和/或其父母在宣布诊断之前的经验和需求,以确保最佳的护理质量。
方法:2017年4月,FIRENDO专题工作组与其11个合作患者协会和支持小组合作,发起了一项关于罕见内分泌疾病诊断公告程序的定量自我管理调查。问卷由患者支持小组代表设计和修订,成人和儿科内分泌学家,心理学家和生物学家,所有罕见内分泌疾病的专家。它已在FIRENDO网络网站上提供,并主要通过电子邮件分发,并在其各自的网站上向所有附属患者支持小组的成员发送电子链接。
结果:问卷由391名患者和223名父母填写(患者中位年龄:39岁)。以下情况与至少30个答案有关:艾迪生病,先天性肾上腺增生(CAH)的经典形式,Russell-Silver综合征,库欣综合征,肢端肥大症和颅咽管瘤。总的来说,一些宣布的方式得到了患者的好评:医生的同理心,可用性和使用明确的术语,以及宣布时家人的在场。然而,据报道缺乏心理护理和信息文件,以及一些不适当的程序,如邮政邮件公告。
结论:这项工作表明,更好地了解患者的经验对于改善罕见内分泌紊乱的诊断公告是有用的。调查得出的主要建议是需要进行几次公告访问,关于患者支持小组和参考中心的信息,必须避免非个人的宣布,以及书面随附文件的有用性。
BACKGROUND: Diagnosis announcement of a chronic disease is a crucial moment for patients as well as for their families and an important step in the management of severe conditions such as rare endocrine diseases. Little is known of how diagnosis is communicated to patients and families. The FIRENDO network was created by the third French Plan for Rare Diseases, to promote autonomy, care and research on rare endocrine diseases.
OBJECTIVE: The aim of this study was to characterize, for the first time, the experience and needs of patients and/or their parents around the announcement of diagnosis to ensure optimal quality of care.
METHODS: A quantitative self-administered survey on diagnosis announcement procedures in rare endocrine diseases was launched in April 2017 by the ad hoc FIRENDO thematic working group in collaboration with its 11 partnering patient associations and support groups. The questionnaire was designed and revised by patient support group representatives, adult and pediatric endocrinologists, psychologists and biologists, all expert in rare endocrine diseases. It was made available on the FIRENDO network website and distributed mainly by email with electronic links on their respective websites to members of all affiliated patient support groups.
RESULTS: Questionnaires were filled out by 391 patients and 223 parents (median age of patients: 39 years). The following conditions were associated with at least 30 answers: Addison\'s disease, classical forms of congenital adrenal hyperplasia (CAH), Russell-Silver syndrome, Cushing\'s syndrome, acromegaly and craniopharyngioma. Overall, some announcement modalities were judged favorably by patients: physician\'s empathy, availability and use of clear terms, and presence of family at the time of announcement. However, a lack of psychological care and information documents was reported, as well as some inadequate procedures such as postal mail announcements.
CONCLUSIONS: This work suggests that better knowledge of the patient\'s experience is useful for improving the diagnosis announcement of rare endocrine disorders. The main recommendations derived from the survey were the need for several announcement visits, information on patient support groups and reference centers, imperatively avoiding impersonal announcement, and the usefulness of a written accompanying document.