患有诺南综合征谱系障碍的拉索病患者最重要的问题和需求
Dagmar K Tiemens1,2, Lotte Kleimeier1, Erika Leenders3
1Department of Pediatrics, Radboud Institute for Health Sciences, Amalia Children's Hospital, Radboud university medical center, Nijmegen, The Netherlands.
Orphanet journal of rare diseases
|July 21, 2023
概括
患有努南综合征谱系障碍 (NSSD) 的患者需求因年龄和性别而异,年轻患者优先考虑养问题. 解决这些不同的需求对于改善NSSD的护理和研究至关重要.
科学领域:
- 遗传学 是一个遗传学.
- 医学遗传学 医学遗传学
- 罕见疾病 罕见疾病
背景情况:
- 努南综合征谱系障碍 (NSSD) 是一种复杂的遗传疾病,影响多个器官.
- 在NSSD的表型变异性受到许多基因的影响,并在患者的寿命中发生变化.
- 了解患者和家庭的需求对于指导研究,医疗保健和政策至关重要.
研究的目的:
- 确定和优先考虑患有努南综合征谱系障碍 (NSSD) 的患者及其亲属的需求.
- 以以患者为中心的观点为基础,为研究,临床管理和政策决策提供信息.
主要方法:
- 采用了与80名患者和亲属的参与和互动对话方法.
- 确定了53个不同的问题或需求,分为八个主题.
- 根据其重要性,在方法上优先考虑主题和话题.
主要成果:
- 优先考虑的四大主题是身体 (非肌肉骨),社会/情绪/行为,认知功能和肌肉骨问题.
- 0-12岁患者的食问题是首要任务,并显示出基于性别的差异.
- 心脏病,虽然通常被认为是显著的,但不是最年轻的年龄组排名第一.
结论:
- 在NSSD患者的需求是多样化的,需要按年龄,表型和性别分层.
- 当前的临床指南和诊断标准可能无法充分解决年轻患者的食问题等优先考虑的问题.
- 这项研究提供了一个以患者为中心的框架,以塑造针对NSSD的有针对性的管理,研究和政策.
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