Velvin G, Bathen T, Rand-Hendriksen S, Geirdal A Ø
Sunnaas Rehabilitation Hospital, TRS National Resource Centre for Rare Disorders, Nesoddtangen, Akershus, Norway; Norway Faculty of Social Sciences, Department of Social Work, Child Welfare and Social Policy, Oslo and Akershus University College of Applied Sciences, Oslo, Norway.
Clin Genet. 2015 Feb;87(2):109-16. doi: 10.1111/cge.12422. Epub 2014 Jun 4.
The purpose of this study was to explore the literature on the psychosocial aspects of Marfan syndrome (MFS), to critically appraise and to synthesize relevant literature. A mixed-method systematic review was performed by searching the published literature databases using available medical, psychological, pedagogical and social databases and other sources. All studies that addressed psychosocial aspects of MFS, published in peer-reviewed journals were assessed. Of 81 search results, 15 articles (four articles based on same study population) satisfied the eligibility criteria. All studies were cross-sectional; no intervention or randomized controlled trial (RCT) studies were found. Most studies were of small sample sizes, had low response rate or participants without a verified diagnosis. Despite these limitations, all studies described, that MFS has a significant impact on the psychosocial aspects of people's lives: Decreased quality of life; challenges in education, work and family life, depression and anxiety. Some studies indicated that the subjective perception of discomfort did not necessarily match the medical severity of a disease. The research of the psychosocial aspects of MFS is limited in size and quality. More research is needed on the psychosocial aspects of MFS in samples with a verified diagnosis to develop evidence-based knowledge and appropriate guidelines.
本研究的目的是探索关于马凡综合征（MFS）心理社会方面的文献，进行批判性评价并综合相关文献。通过使用可用的医学、心理学、教育学和社会数据库以及其他来源搜索已发表的文献数据库，开展了一项混合方法的系统评价。对所有发表在同行评审期刊上、涉及MFS心理社会方面的研究进行了评估。在81个搜索结果中，有15篇文章（4篇基于同一研究人群）符合纳入标准。所有研究均为横断面研究；未发现干预性或随机对照试验（RCT）研究。大多数研究样本量小、应答率低或参与者未经过确诊。尽管存在这些局限性，但所有研究均表明，MFS对人们生活的心理社会方面有重大影响：生活质量下降；在教育、工作和家庭生活中面临挑战，以及抑郁和焦虑。一些研究表明，不适的主观感受不一定与疾病的医学严重程度相符。MFS心理社会方面的研究在规模和质量上都很有限。需要对经过确诊的样本开展更多关于MFS心理社会方面的研究，以形成基于证据的知识和适当的指导方针。
