Klein Haneveld Mirthe Jasmijn, de Mortier Chloé Aymée, Hugon Anne, Cornel Martina Cornelia, Gaasterland Charlotte Maria Wilhelmina, van Eeghen Agnies Marguerite
Amsterdam UMC, University of Amsterdam, Emma Children's Hospital, Meibergdreef 9, Amsterdam, The Netherlands.
European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA, Clinical Genetics Department, Robert Debré University Hospital, 48 Boulevard Serurier, 75935, Paris, France.
Orphanet J Rare Dis. 2025 Apr 10;20(1):169. doi: 10.1186/s13023-025-03673-9.
Individuals living with rare congenital malformations and/or intellectual disability often face challenges in accessing appropriate healthcare. Clinical practice guidelines (CPGs) may serve as a tool to provide evidence-based care for rare diseases, but their development is complex, and the views of affected individuals and families often remain unknown.
Patient advocates of the European Reference Network ITHACA (Intellectual disability, TeleHealth, Autism and Congenital Anomalies) participated in focus groups in which their experiences with and perspectives on CPG use and development were discussed.
Patient advocates considered CPGs relevant to address information and care needs and support advocacy efforts. Important characteristics included representation of heterogeneity within conditions, a holistic approach in which and how topics are addressed, user-friendly availability for individuals and families, and reliability of information. Guideline development and implementation were described as challenging, iterative processes in which effective partnership between clinicians, patient advocates, and other stakeholders is essential.
Understanding the perspectives of patient advocates is essential to develop CPGs that meet the life-long and complex care needs of individuals and families living with rare conditions. Identified challenges include balancing the urgency of information needs with thorough guideline development processes, as well as the integration and interpretation of different types of knowledge.
患有罕见先天性畸形和/或智力残疾的个体在获得适当医疗保健方面往往面临挑战。临床实践指南（CPG）可作为为罕见疾病提供循证护理的工具，但其制定过程复杂，受影响个体和家庭的观点往往不为人知。
欧洲参考网络ITHACA（智力残疾、远程医疗、自闭症和先天性异常）的患者倡导者参加了焦点小组，讨论了他们在CPG使用和制定方面的经验及观点。
患者倡导者认为CPG与满足信息和护理需求以及支持宣传努力相关。重要特征包括疾病内异质性的体现、处理主题的方式和方法的整体方法、对个人和家庭友好的可用性以及信息的可靠性。指南的制定和实施被描述为具有挑战性的迭代过程，其中临床医生、患者倡导者和其他利益相关者之间的有效合作至关重要。
了解患者倡导者的观点对于制定满足患有罕见疾病的个体和家庭终身复杂护理需求的CPG至关重要。已确定的挑战包括在信息需求的紧迫性与全面的指南制定过程之间取得平衡，以及不同类型知识的整合和解读。
