对罕见遗传神经发育障碍的临床实践准则的制定:欧洲参考网络ITHACA内的德尔菲研究
Mirthe J Klein Haneveld1, Michiel S Oerbekke2, Katalin Szakszon3
1Amsterdam UMC, University of Amsterdam, Emma Children's Hospital, Amsterdam Reproduction & Development, Amsterdam Public Health, Meibergdreef 9, PO Box 22660, Amsterdam 1100 DD, 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, Paris 75935, France.
Journal of clinical epidemiology
|March 20, 2025
概括
为罕见的遗传神经发育障碍制定临床实践指南 (CPG) 需要利益相关者的意见来优先考虑努力. 关键标准包括缺乏现有指导,高患者负担和CPG开发的特定健康风险.
科学领域:
- 罕见疾病研究研究.
- 临床实践指导方针的制定.
- 神经发育障碍 神经发育障碍
背景情况:
- 优先考虑为罕见遗传神经发育障碍制定临床实践指南 (CPG) 是具有挑战性的,因为许多条件和有限的资源.
- 欧洲参考网络 (ERN) 智力障碍,远程医疗,自闭症和先天异常 (ITHACA) 网络面临着这一挑战.
研究的目的:
- 在ERN ITHACA.内确定优先考虑CPG主题的标准.
- 将利益关方的意见纳入CPG为罕见疾病的优先设定过程中.
主要方法:
- 采用了两阶段的共识过程.
- 第1阶段涉及初始标准的生成,内部反和利益相关方通过公开调查的投入.
- 第二阶段使用了经过修改的Delphi方法和与患者,临床医生和方法学家的共识会议.
主要成果:
- 最后的标准包括缺乏现有指导方针,对个人/家庭的高负担,以及特定的健康风险.
- 病因学特定的CPG考虑了复杂性和治疗可用性.
- 共享健康主题CPG专注于常见事件和社会负担.
- 专家和患者组织的可用性至关重要.
结论:
- 利益相关者对齐对于为罕见情况的高优先级CPG分配资源至关重要.
- 确定了罕见病CPG优先级的具体标准.
- 对复杂疾病,专业医疗保健和非标准护理环境而言,CPG的发展是优先考虑的.
相关概念视频
Intellectual Disability
34
Intellectual disability (ID) is a neurodevelopmental condition characterized by deficits in intellectual and adaptive functioning that manifest during the developmental period. This condition encompasses challenges in reasoning, memory, problem-solving, and learning, accompanied by impairments in everyday life skills, such as communication, self-care, and social interactions. Intellectual disability affects approximately 1% of the population in the United States, impacting an estimated 5...
34
Incomplete Dominance
20.6K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
20.6K
Nursing Interventions II: Selecting and Classifying the Nursing Interventions
2.0K
Creating and executing a nursing diagnosis helps nurses plan care and guide patient, family, and community interventions. They are developed based on a patient's physical evaluation and support measuring the outcomes. It is not recommended to select random interventions throughout the planning process. Instead, consider the following six essential factors when choosing interventions:
2.0K


