Rubinstein–Taybi syndrome (RTS) is a rare genetic disorder. Family-centered care (FCC) is a healthcare delivery approach that aims to create an equal partnership between caregivers and providers. FCC has been shown to improve parental wellbeing, their knowledge of the condition and care, and improve their feelings of self-efficacy and personal control. The purpose of this study was to explore the healthcare experiences of family caregivers of children and adults with RTS to understand the issues they encounter when working with medical professionals and to examine their perspectives on how to improve FCC. Primary family caregivers of individuals with RTS took an online mixed-method survey that contained three primary components: a demographic survey, the Measures of Processes of Care-20 (MPOC-20) [a measure of the FCC an individual feels they receive], and a qualitative assessment of negative and positive interactions with medical professionals and priority areas for improvement. Qualitative data were analyzed using thematic analysis. Quantitative data were analyzed with descriptive statistics. An analysis of variance test was used to determine whether values statistically differed between different-age groups of individuals with RTS being cared for. Sixty-three caregivers completed the survey. The average score of the Providing General Information subscale of the MPOC-20 was 3.18, lower than that seen in other studies. The average scores of the other subscales of the MPOC-20 ranged from 4.60 to 5.02, comparable to other studies of caregivers of children with other medical conditions. All aspects of FCC were ranked as important by caregivers. There were no differences in MPOC-20 values between those caring for the individuals with RTS in different-age groups reviewed. In the qualitative responses, parents noted that experiences with medical professionals would be improved if healthcare providers actively provided FCC, collaborated with parents and other providers, respected caregivers’ time and breadth of knowledge and lived experience, gave a more balanced description of the condition, showed greater respect toward their loved ones and included them in the conversation, and made an effort to learn about RTS. The changes that parents would like to see in their child's care were not specific to one discipline and could be implemented by all healthcare specialists. While caregivers report that they receive moderate levels of FCC, they indicated that areas of FCC could be improved.

中文翻译：

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Rubinstein-Taybi 综合征患者的照顾者：观点、经验和与医疗专业人员的关系

Rubinstein-Taybi 综合征 (RTS) 是一种罕见的遗传性疾病。以家庭为中心的护理 (FCC) 是一种医疗保健提供方法，旨在在护理人员和提供者之间建立平等的伙伴关系。FCC 已被证明可以改善父母的幸福感、他们对病情和护理的了解，并提高他们的自我效能感和个人控制感。本研究的目的是探索患有 RTS 的儿童和成人的家庭护理人员的医疗保健经验，以了解他们在与医疗专业人员合作时遇到的问题，并检查他们对如何改善 FCC 的看法。RTS 患者的主要家庭照顾者进行了一项在线混合方法调查，该调查包含三个主要组成部分：人口调查、护理过程的措施 - 20 (MPOC-20) [个人认为他们收到的 FCC 的衡量标准]，以及对与医疗专业人员的消极和积极互动以及需要改进的优先领域的定性评估。使用主题分析对定性数据进行分析。用描述性统计分析定量数据。使用方差检验分析来确定不同年龄组的 RTS 患者之间的数值是否存在统计学差异。63 名护理人员完成了调查。MPOC-20 提供一般信息分量表的平均得分为 3.18，低于其他研究中的得分。MPOC-20 的其他分量表的平均分数范围为 4.60 到 5.02，与其他患有其他疾病的儿童的照顾者的研究相当。FCC 的所有方面都被护理人员列为重要的。在所审查的不同年龄组中，照顾 RTS 个体的人的 MPOC-20 值没有差异。在定性答复中，父母指出，如果医疗保健提供者积极提供 FCC，与父母和其他提供者合作，尊重照顾者的时间和知识广度和生活经验，对病情进行更平衡的描述，那么与医疗专业人员的经验将会得到改善，对他们所爱的人表现出更大的尊重，并让他们参与到对话中，并努力了解 RTS。父母希望在孩子的护理中看到的变化并不特定于某一学科，并且可以由所有医疗保健专家实施。