Meulenkamp Tineke M, Tibben Aad, Mollema Eline D, van Langen Irene M, Wiegman Albert, de Wert Guido M, de Beaufort Inez D, Wilde Arthur A M, Smets Ellen M A
Medical Psychology, Academic Medical Center/University of Amsterdam, and Pediatric Lipid Clinic, Emma's Children Hospital, Amsterdam, The Netherlands.
Am J Med Genet A. 2008 Dec 15;146A(24):3136-46. doi: 10.1002/ajmg.a.32592.
We studied the experiences of children identified by family screening who were found to be a mutation carrier for a genetic cardiovascular disease (Long QT Syndrome (LQTS), Hypertrophic Cardiomyopathy (HCM), Familial Hypercholesterolemia (FH)). We addressed the (a) manner in which they perceive their carrier status, (b) impact on their daily lives, and (c) strategy used to cope with these consequences. Children (aged 8-18) who tested positive for LQTS (n=11), HCM (n=6) or FH (n=16), and their parents participated in semi-structured audiotaped interviews. Interview topics included illness perception, use of medication, lifestyle modifications, worries, and coping. Each interview was coded by two researchers. The qualitative analysis was guided by Leventhal's model of self-regulation. The children were overall quite articulate about the disease they were tested for, including its mode of inheritance. They expressed positive future health perceptions, but feelings of controllability varied. Adherence and side-effects were significant themes with regard to medication-use. Refraining from activities and maintaining a non-fat diet were themes concerning lifestyle modifications. Some children spontaneously reported worries about the possibility of dying and frustration about being different from peers. Children coped with these worries by expressing faith in the effectiveness of medication, trying to be similar to peers or, in contrast, emphasizing their "being different." Children generally appeared effective in the way they coped with their carrier status and its implications. Nevertheless, dealing with the daily implications of their condition remains difficult in some situations, warranting continued availability of psychosocial support.
我们研究了通过家庭筛查确定为遗传性心血管疾病（长QT综合征（LQTS）、肥厚型心肌病（HCM）、家族性高胆固醇血症（FH））突变携带者的儿童的经历。我们探讨了（a）他们对自身携带者状态的认知方式，（b）对其日常生活的影响，以及（c）用于应对这些后果的策略。对LQTS检测呈阳性的儿童（8 - 18岁，n = 11）、HCM检测呈阳性的儿童（n = 6）或FH检测呈阳性的儿童（n = 16）及其父母参与了半结构化的录音访谈。访谈主题包括疾病认知、药物使用、生活方式改变、担忧和应对方式。每次访谈由两名研究人员进行编码。定性分析以莱文索尔的自我调节模型为指导。总体而言，孩子们对他们所检测的疾病，包括其遗传模式，都表达得相当清晰。他们对未来健康持有积极的看法，但可控感各不相同。在药物使用方面，依从性和副作用是重要主题。避免某些活动和保持无脂饮食是关于生活方式改变的主题。一些孩子自发地表达了对死亡可能性的担忧以及因与同龄人不同而感到沮丧。孩子们通过对药物有效性表示信心、努力与同龄人相似或相反地强调自己的“与众不同”来应对这些担忧。孩子们在应对自身携带者状态及其影响方面总体上显得很有效。然而，在某些情况下，应对病情的日常影响仍然困难，需要持续提供心理社会支持。
