Oliveira Carla Roma, Mendes Alvaro, Sousa Liliana
Department of Medical Sciences, University of Aveiro, Portugal.
Associação dos Lares Ferroviários, Entroncamento, Portugal.
Eur J Hum Genet. 2017 Jun;25(6):687-693. doi: 10.1038/ejhg.2017.40. Epub 2017 Mar 22.
The role of older generations in families with hereditary diseases has been recognised and associated to their function as guardians of the family's medical history. However, research is scarce in examining the roles that older generations play in terms of health promotion and risk management towards younger generations, which is particularly evident with incurable genetically inherited disorders such as familial amyloid polyneuropathy (FAP) ATTR Val30Met. This qualitative exploratory study examines the roles that older generations play towards younger generations, in terms of health promotion and risk management, in families with FAP. It also explores the intergenerational flow by analysing who from the older generation plays what role(s) towards whom from the younger generation. This study adopts the critical incidents technique. The sample comprises 18 participants that reported 76 critical incidents. The interviews were audio-taped and submitted for content analysis with the main findings suggesting four roles performed by the older family members towards the younger ones: modelling, encouraging, informing and supporting. The intergenerational flow takes place mostly between women, from mother to daughter, and from older affected individuals to young pre-symptomatic carriers. The older generations can be involved in the clinical practice as partners in supporting younger relatives in families with FAP. Clinical genetic services and the health-care system more broadly might want to consider these roles and the intergenerational flow of support so that this information can be used to maximise health promotion behaviours in at-risk families.
在患有遗传性疾病的家庭中,老一辈的作用已得到认可,且与他们作为家族病史守护者的功能相关。然而,在研究老一辈在促进年轻一代健康和风险管理方面所扮演的角色方面,研究较少,这在诸如家族性淀粉样多神经病(FAP)ATTR Val30Met等无法治愈的遗传性疾病中尤为明显。这项定性探索性研究考察了在患有FAP的家庭中,老一辈在促进年轻一代健康和风险管理方面对年轻一代所扮演的角色。它还通过分析老一辈中的哪些人对年轻一代中的哪些人扮演了什么角色来探索代际流动。本研究采用关键事件技术。样本包括18名参与者,他们报告了76个关键事件。访谈进行了录音,并提交进行内容分析,主要结果表明老年家庭成员对年轻成员扮演了四种角色:树立榜样、鼓励、提供信息和支持。代际流动主要发生在女性之间,从母亲到女儿,以及从年长的患病个体到年轻的症状前携带者。老一辈可以作为合作伙伴参与临床实践,以支持患有FAP的家庭中的年轻亲属。临床遗传服务以及更广泛的医疗保健系统可能需要考虑这些角色和支持的代际流动,以便能够利用这些信息在高危家庭中最大限度地促进健康行为。