Quality of life in rare genetic conditions: a systematic review of the literature.
Quality of life in rare genetic conditions: a systematic review of the literature.
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DOI：
10.1002/ajmg.a.33380
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发表时间：
2010-05
影响因子：
2
通讯作者：
Biesecker, Barbara B.
中科院分区：
文献类型：
--
作者：
Cohen, Julie S.;Biesecker, Barbara B.
生活质量指的是个人的整体幸福感，包括身体、心理、情感、社会和精神层面。尽管遗传学医疗保健提供者努力促进患者的幸福感，而且术语QOL经常被引用来指代这一结果，但从患者的角度来看，什么是真正构成QOL的尚不清楚。这篇系统的文献综述旨在总结和整合研究结果，以帮助阐明医疗保健提供者如何更有效地提高受罕见遗传疾病影响的患者的生活质量。符合条件的研究是那些使用有效的、多维的量表来衡量QOL作为主要结果变量的研究。详细的标准被用来对设计质量、方法和分析的严谨性进行评级。选择了58项研究纳入综述，并对数据进行了叙述性综合。从文献中出现的一个中心主题是，尽管遗传条件有可能对个人的生活产生重大的负面影响，但遗传条件并不一定意味着较差的生活质量。有证据表明，除了疾病的身体表现之外，心理健康、应对和疾病认知等因素也会影响生活质量，并可能成为干预的有力目标。通过统一对生活质量的清晰概念，并使用更严格的方法和全面的全球生活质量衡量标准，将推进罕见遗传条件下的生活质量研究领域。†
Quality of life (QoL) refers to an individual's sense of overall well-being encompassing physical, psychological, emotional, social, and spiritual dimensions. Although genetics healthcare providers strive to promote patient well-being, and the term QoL is often invoked to refer to this outcome, there is lack of clarity as to what actually constitutes QoL from the patient's perspective. This systematic literature review aims to summarize and integrate research findings to help elucidate how healthcare providers can more effectively enhance the QoL of patients affected with rare genetic conditions. Eligible studies were those that measured QoL as a primary outcome variable using a validated, multi-dimensional scale. Detailed criteria were used to rate quality of design, methodology, and analytic rigor. Fifty-eight studies were selected for inclusion in the review, and a narrative synthesis of the data was performed. A central theme emerging from the literature is that, although genetic conditions have the potential to have significant negative consequences for individuals' lives, having a genetic condition does not necessarily entail poor QoL. Evidence demonstrates that factors beyond the physical manifestations of the disease, such as psychological well -being, coping, and illness perceptions, influence QoL and may serve as potent targets for intervention. The field of research on QoL in rare genetic conditions will be advanced by uniting around a clear conceptualization of QoL and using more rigorous methodology with comprehensive measures of global QoL.†
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影响因子：
3
作者：
Boström, K;Nätterlund, BS;Ahlström, G
通讯作者：
Ahlström, G
影响因子：
4.2
作者：
Berglund, B;Mattiasson, AC;Nordström, G
通讯作者：
Nordström, G
影响因子：
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作者：
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通讯作者：
Taruscio, Domenica
影响因子：
2
作者：
FERRANS, CE;POWERS, MJ
通讯作者：
POWERS, MJ
DOI：
10.1016/s1569-1993(03)00093-6
发表时间：
2003-12-01
期刊：
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society
影响因子：
--
作者：
Gee, L;Abbott, J;Webb, A K
通讯作者：
Webb, A K