在PACS1综合征中评估生活质量,从母亲和父亲的角度使用KidsLife尺度
Julia Del Rincón1,2, Laura Trujillano1,3, Cristina Lucia-Campos1
1Department of Pharmacology and Physiology, Unit of Clinical Genetics and Functional Genomics, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, 50009 Zaragoza, Spain.
Behavioral sciences (Basel, Switzerland)
|February 27, 2026
概括
在PACS1综合征中,生活质量受到依赖的影响,特别是在自主领域. 需要支持来增强受影响个人的社会参与和福祉.
科学领域:
- 神经发育障碍 神经发育障碍
- 罕见疾病 罕见疾病
- 儿科健康 儿科健康
背景情况:
- PACS1综合征是一种极为罕见的神经发育障碍.
- 它的特点是智力障碍,行为问题和多系统参与.
- 对生活质量 (QoL) 的影响仍然被低估.
研究的目的:
- 在患有PACS1综合征的个体中系统评估QOL.
- 评估超出医疗结果的心理社会福祉.
- 了解4至21岁受影响个体的生活经历.
主要方法:
- 使用经过验证的KidsLife尺度进行QoL评估.
- 通过代理报告从主要照顾者 (母亲和父亲) 收集的数据.
- 通过西班牙PACS1协会招募了21名参与者;分析了39份问卷.
主要成果:
- 全球QoL指数 (QoLI) 的平均值为48.1±28.3,低于智力障碍中位数,但高于康奈莉亚·德朗格综合征.
- 社会包容,权利和物质福祉领域相对保留.
- 自主领域 (自决,人际关系,个人发展) 显示出显著的妥协,与依赖程度相关.
结论:
- PACS1综合征显著影响功能能力和生活质量,特别是在自主性方面.
- 照顾孩子的责任给家庭带来压力,往往导致父母工作时间缩短.
- 多学科支持对于改善PACS1综合征患者的自主性,社会融合和整体幸福感至关重要.
相关概念视频
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Ask the patient about their primary concern and thoroughly explore all reported symptoms.
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Investigate past illnesses affecting the cardiovascular system, such as angina, anemia, rheumatic fever, congenital heart disease, stroke, thrombophlebitis, dysrhythmias, varicosities
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