Reiff Marian, Bugos Eva, Giarelli Ellen, Bernhardt Barbara A, Spinner Nancy B, Sankar Pamela L, Mulchandani Surabhi
Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, 3624 Market Street, Philadelphia, PA, 19104, USA.
Counseling and Psychological Services, University of Pennsylvania, Philadelphia, PA, USA.
J Autism Dev Disord. 2017 May;47(5):1453-1463. doi: 10.1007/s10803-017-3067-7.
Despite increasing utilization of chromosomal microarray analysis (CMA) for autism spectrum disorders (ASD), limited information exists about how results influence parents' beliefs about etiology and prognosis. We conducted in-depth interviews and surveys with 57 parents of children with ASD who received CMA results categorized as pathogenic, negative or variant of uncertain significance. Parents tended to incorporate their child's CMA results within their existing beliefs about the etiology of ASD, regardless of CMA result. However, parents' expectations for the future tended to differ depending on results; those who received genetic confirmation for their children's ASD expressed a sense of concreteness, acceptance and permanence of the condition. Some parents expressed hope for future biomedical treatments as a result of genetic research.
尽管染色体微阵列分析（CMA）在自闭症谱系障碍（ASD）中的应用越来越多，但关于结果如何影响父母对病因和预后的看法的信息却很有限。我们对57名患有ASD儿童的父母进行了深入访谈和调查，这些儿童的CMA结果被分类为致病性、阴性或意义不明确的变异。无论CMA结果如何，父母倾向于将孩子的CMA结果纳入他们现有的关于ASD病因的信念中。然而，父母对未来的期望往往因结果而异；那些孩子的ASD得到基因确认的父母表达了对病情的具体性、接受度和永久性的感觉。一些父母因基因研究而对未来的生物医学治疗表示希望。
