Bloch M, Adam S, Fuller A, Kremer B, Welch J P, Wiggins S, Whyte P, Huggins M, Theilmann J, Hayden M R
Department of Medical Genetics, University of British Columbia, Canada.
Am J Med Genet. 1993 Sep 1;47(3):368-74. doi: 10.1002/ajmg.1320470314.
Persons diagnosed as affected with Huntington's disease (HD) may have similar stages of psychological response to the clinical presentation of the illness. Here we describe a model of these stages of response based on our experience during a predictive testing program for HD. During the Warning Stage, asymptomatic persons are aware of their risk status for HD and develop defenses which favor adaptation to their genetic risk. In response to the initial signs and symptoms of HD (the Incipient Stage) unconscious working through of this realization occurs while it is still kept out of conscious awareness. When symptoms become obvious such that recognition of disease onset is inevitable (Breakthrough Stage) the possibility of the diagnosis of HD is assimilated. After the delivery of the diagnosis during the Adjustment Stage, short- and long-term adaptive responses to living with HD occur. Recognition of the stage of psychological response of a patient who presents with HD is important prior to delivering a clinical diagnosis. In a significant minority of cases, the psychological readiness lags behind the clinical symptomatology and premature presentation of a diagnosis may result in significant untoward adverse events. Understanding of the stages of response may provide a framework for evaluating the psychological state of the person with HD and determining their readiness to receiving the diagnosis. This model may have relevance to the psychological responses of patients to the diagnosis of other late onset autosomal dominant disorders.
被诊断患有亨廷顿舞蹈症（HD）的患者对该疾病临床表现的心理反应可能有相似阶段。在此，我们根据在HD预测性检测项目中的经验，描述这些反应阶段的模型。在预警阶段，无症状个体意识到自己患HD的风险状况，并形成有利于适应其遗传风险的防御机制。在HD最初的体征和症状出现时（初期阶段），这种认知在无意识状态下进行，同时仍处于意识之外。当症状变得明显以至于疾病发作不可避免时（突破阶段），HD诊断的可能性被接受。在调整阶段确诊后，患者会对HD生活产生短期和长期的适应性反应。在做出临床诊断之前，识别HD患者心理反应的阶段很重要。在相当一部分病例中，心理准备落后于临床症状，过早给出诊断可能会导致严重的不良事件。了解反应阶段可为评估HD患者的心理状态以及确定他们接受诊断的准备程度提供一个框架。该模型可能与患者对其他晚发性常染色体显性疾病诊断的心理反应相关。
