Genetic Testing for Huntington Disease in At Risk Adolescents and Young Adults

描述(申请人提供)：亨廷顿病(HD)是一种晚发性神经精神障碍，以常染色体显性遗传方式遗传，这意味着受影响父母的每个孩子都有50%的机会遗传已知的导致HD的基因突变。这些症状包括运动障碍、导致痴呆症的认知能力下降和各种精神障碍。1983年，通过使用限制性内切酶，HD成为第一个被定位到4号染色体上以前未知位置的疾病。这一发现意味着一些有HD风险的人可以知道他们是否会在未来的某个时候患上HD。此后不久，美国亨廷顿病学会(HDSA)和世界神经病学联合会与国际亨廷顿协会共同发布了预测性测试指南。这两套指南都建议不对18岁以下的个人进行检测。这一禁止对儿童进行检测的目的是为了保留危险儿童在达到法定年龄时决定是否接受检测的自主权。尽管有这些指导方针，但儿童已经接受了检测，未来在儿童中的检测可能会增加。在发展方面，这项测试发生在社会、情感和认知发生巨大变化的时候，因为个人完成了他们的教育，进入了劳动力大军，离开了他们的家庭，从最初的浪漫和性关系过渡到更持久的伙伴关系。基因检测可能会干扰这些生命周期的转变，但我们几乎不知道这些孩子和他们的家人如何决定是否接受检测，或者一旦检测发生，他们如何应对结果。这项研究的目的是使用混合方法和麦克亚当斯的身份认同生活故事模型来考察患有HD风险的青少年和年轻人如何将患有HD风险的现实和是否接受测试的决定整合到他们的生活故事中。第二个目标是考察接受测试的个人如何将这些新知识融入他们的生活故事中。

DESCRIPTION (provided by applicant): Huntington Disease (HD) is a late onset neuropsychiatric disorder that is inherited in an autosomal dominant manner meaning that each child of an affected parent has a 50% chance of inheriting the genetic mutation that is known to cause HD. The symptoms include a movement disorder, cognitive decline leading to dementia and a variety of psychiatric disorders. In 1983, HD became the first disease mapped to a previously unknown location on chromosome 4 through the use of restriction enzymes. This discovery meant that some individuals at risk for HD could learn whether or not they would develop HD at some point in the future. Shortly thereafter, both the Huntington's Disease Society of America (HDSA) and the World Federation of Neurology, in concert with the International Huntington Association, published guidelines for predictive testing. Both sets of guidelines recommended that testing not be done on individuals younger than the age of 18. The goal of this prohibition against testing children was to preserve the autonomy of the at risk child to decide whether or not to be tested when he or she reached the age of majority. Despite these guidelines, children have been tested and testing in children is likely to increase in the future. Developmentally, this testing occurs at a time of great social, emotional, and cognitive change as individuals finish their education, enter the workforce, leave their families of origin and transition from first romantic and sexual relationships to more enduring partnerships. Genetic testing may interfere with these life cycle transitions but we know next to nothing about how these children and their families make the decision whether or not to be tested or how they cope with the results once testing has occurred. The goal of this study is to use a mixed methods approach and McAdams's life story model of identity to examine how adolescents and young adults at risk for HD integrate the reality of being at risk for HD and the decision whether or not to be tested into their life story. The secondary goal is to examine how individuals who have been tested integrate this new knowledge into their life story.