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首页> 外文期刊>American journal of medical genetics, Part A >Conceptualizing a Quality of Life Framework for Girls with Rett Syndrome Using Qualitative Methods
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Conceptualizing a Quality of Life Framework for Girls with Rett Syndrome Using Qualitative Methods

机译：使用定性方法概念化雷特综合症女孩的生活质量框架

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Rett syndrome is a neurodevelopmental disorder mainly affecting females and associated with a mutation on the MECP2 gene. There has been no systematic evaluation of the domains of quality of life (QOL) in Rett syndrome. The aims of this study were to explore QOL in school-aged children with Rett syndrome and compare domains with those identified in other available QOL scales. The sample comprised 21 families registered with the Australian Rett Syndrome Database whose daughter with Rett syndrome was aged 6-18 years. Semi-structured telephone interviews were conducted with each parent caregiver (19 mothers, 2 fathers) to investigate aspects of their daughter's life that were satisfying or challenging to her. Qualitative thematic analysis using a grounded theory framework was conducted, and emerging domains compared with those in two generic and three disability parent-report child QOL measures. Ten domains were identified: physical health, body pain, and discomfort, behavioral and emotional well-being, communication skills, movement and mobility, social connectedness, variety of activities, provision of targeted services, stability of daily routines, and the natural environment. The two latter domains were newly identified and each domain contained elements not represented in the comparison measures. Our data articulated important aspects of life beyond the genetic diagnosis. Existing QOL scales for children in the general population or with other disabilities did not capture the QOL of children with Rett syndrome. Our findings support the construction of a new parent-report measure to enable measurement of QOL in this group. (c) 2015 Wiley Periodicals, Inc.
机译：Rett综合征是一种主要影响女性的神经发育障碍，与MECP2基因的突变有关。尚未对Rett综合征的生活质量（QOL）领域进行系统评估。这项研究的目的是探索患有Rett综合征的学龄儿童的QOL，并将其与其他可用QOL量表中确定的领域进行比较。样本包括在澳大利亚Rett综合征数据库中注册的21个家庭，其女儿患有Rett综合征的年龄为6-18岁。对每位父母的照料者（19位母亲，2位父亲）进行了半结构化的电话采访，以调查女儿的生活中哪些方面令她满意或具有挑战性。使用扎根的理论框架进行了定性主题分析，并将新兴领域与两个通用和三个残疾父母报告儿童QOL措施中的领域进行了比较。确定了十个领域：身体健康，身体疼痛和不适，行为和情感健康，沟通技巧，运动和活动能力，社交联系，各种活动，提供有针对性的服务，日常工作的稳定性和自然环境。后两个领域是新确定的，每个领域都包含比较措施中未表示的元素。我们的数据阐明了基因诊断之外生活的重要方面。现有的针对一般人群或其他残疾儿童的QOL量表并未涵盖Rett综合征儿童的QOL。我们的发现支持构建新的父报告测量方法，以使该组中的QOL得以测量。 （c）2015年威利期刊有限公司

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