Parental Perceived Value of a Diagnosis for Intellectual Disability (ID): A Qualitative Comparison of Families With and Without a Diagnosis for Their Child's ID
Parental Perceived Value of a Diagnosis for Intellectual Disability (ID): A Qualitative Comparison of Families With and Without a Diagnosis for Their Child's ID
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DOI：
10.1002/ajmg.a.33050
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发表时间：
2009-11-01
影响因子：
2
通讯作者：
Marra, Carlo A.
中科院分区：
文献类型：
--
作者：
Makela, Nancy L.;Birch, Patricia H.;Marra, Carlo A.
尽管诸如阵列基因组杂交等诊断智力残疾(ID)原因的新技术令临床医生感到兴奋，但病因学诊断对受影响儿童的家庭的价值在很大程度上是未知的。对20名ID儿童、10名ID儿童和10名没有原因或病因诊断的儿童的父母进行了深入的访谈，了解他们对此类诊断的重视程度。他们被问及获得服务的经验、对支持小组的利用、与家人和朋友的互动以及对产前诊断的看法。父母还被问及他们孩子的诊断状况是否影响了这些事件或影响了夫妇的生育决定。最后，父母被问及他们对病因学诊断的重要性的兴趣是否随着时间的推移而改变。对访谈记录进行分析，以确定父母对病因诊断的重视程度，并对两组进行比较。这些父母在第一次注意到发育问题时最强烈地感到有必要进行诊断，大多数父母一致认为，随着时间的推移，这种强烈程度会减弱。所有人都希望得到病因诊断，但对一些人来说，唯一的原因是好奇心。确认是诊断的最重要价值：它为孩子的行为和外表提供了合法性。然而，一个描述性的标签，如自闭症，往往比罕见但特定的病因诊断对父母更有用。令人惊讶的是，在这两组人中，父母对孩子ID是否存在病因诊断的看法或经历没有差异。(C)2009年Wiley-Liss，Inc.
Although new technologies such as array genomic hybridization to diagnosis the cause of intellectual disabilities (ID) are exciting to clinicians, the value of an etiological diagnosis to the families of affected children is largely unknown. Parents of 20 children with ID, 10 with and 10 without a causal or an etiological diagnosis were interviewed in depth about the value they place on such a diagnosis. They were asked about experiences acquiring services, use of support groups, interactions with family and friends, and opinions on prenatal diagnosis. Parents were also asked whether their child's diagnostic status had influenced these events or affected the couple's reproductive decisions. Finally, parents were asked whether their interest regarding the importance of an etiological diagnosis had changed over time. Interview transcripts were analyzed to determine values parents place on etiological diagnoses and comparisons were made between the two groups. These parents felt the need for a diagnosis most intensely when developmental concerns were first noted, and most parents agreed that this intensity diminished over time. All would have preferred to have an etiological diagnosis, but for some the only reason was curiosity. Validation was the most important value attributed to a diagnosis: it offered legitimacy for the child's behavior and appearance. However, a descriptive label, such as autism, was often more useful to parents than a rare but specific etiological diagnosis. Surprisingly, between the two groups there were no differences in the parents' perceptions or experiences related to the presence or absence of an etiological diagnosis for their child's ID. (C) 2009 Wiley-Liss, Inc.