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老一辈在家庭对亨廷顿舞蹈症的适应过程中的作用。

Role of older generations in the family's adjustment to Huntington disease.

作者信息

Oliveira Carla Roma, Mendes Álvaro, Sequeiros Jorge, Sousa Liliana

机构信息

Department of Education and Psychology, University of Aveiro, Campus Universitário de Santiago, 3810-193, Aveiro, Portugal.

CINTESIS - Centre for Health Technology and Services Research, Porto, Portugal.

出版信息

J Community Genet. 2021 Jul;12(3):469-477. doi: 10.1007/s12687-021-00523-6. Epub 2021 Mar 25.

Abstract

Genetic diseases are a family matter, requiring adjustment and management from the family system, particularly when the diagnosis is recent. Literature has evidenced the importance of the role of older relatives in families dealing with some genetic diseases; however, knowledge is scarce regarding rare incurable genetic disorders, such as Huntington disease. Therefore, this exploratory qualitative study aims at describing how adjustment to Huntington disease occurs, from a family perspective, considering the roles performed by older generations, in the Portuguese context. It adopts the critical incidents technique, administered based on semi-structured interviews, and comprises 10 participants, aged 28 to 72 years (8 females), from seven families. Participants reported 130 critical incidents. The interviews were audiotaped, transcribed, and submitted to thematic analysis. Findings portray participants and their families as "beginners" in understanding and incorporating Huntington disease in their lives, due to recent diagnosis. In addition, data suggest that older relatives play two relevant roles in the creation of family narratives: (1) "shaping awareness about HD" (68 critical incidents) and (2) "influencing HD management" (62 critical incidents). Genetic counseling and family-centered interventions aimed at supporting families with a history of hereditary genetic diseases, should consider a narrative approach involving older relatives, since they have a great influence in sustaining family stories.

摘要

遗传疾病是一个家庭问题,需要家庭系统进行调整和管理,尤其是在确诊不久的时候。文献已经证明了年长亲属在处理某些遗传疾病的家庭中所起作用的重要性;然而,对于诸如亨廷顿舞蹈症等罕见的不治之症的遗传疾病,相关知识却很匮乏。因此,这项探索性的定性研究旨在从家庭角度描述在葡萄牙背景下,考虑到老一辈所扮演的角色,家庭是如何适应亨廷顿舞蹈症的。该研究采用关键事件技术,基于半结构化访谈进行,共有来自七个家庭的10名参与者,年龄在28岁至72岁之间(8名女性)。参与者报告了130个关键事件。访谈进行了录音、转录,并进行了主题分析。研究结果表明,由于确诊不久,参与者及其家人在理解和将亨廷顿舞蹈症融入生活方面是“新手”。此外,数据表明年长亲属在构建家庭叙事中发挥了两个相关作用:(1)“塑造对亨廷顿舞蹈症的认知”(68个关键事件)和(2)“影响亨廷顿舞蹈症的管理”(62个关键事件)。针对有遗传性遗传疾病史的家庭的遗传咨询和以家庭为中心的干预措施,应考虑采用涉及年长亲属的叙事方法,因为他们在维系家庭故事方面有很大影响。

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本文引用的文献

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Adv Exp Med Biol. 2018;1049:1-28. doi: 10.1007/978-3-319-71779-1_1.
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