Hallberg U, Oskarsdóttir S, Klingberg G
Nordic School of Public Health, Göteborg, Sweden.
Child Care Health Dev. 2010 Sep;36(5):719-25. doi: 10.1111/j.1365-2214.2010.01108.x. Epub 2010 Jun 1.
The 22q11 deletion syndrome (22q11DS) is one of the most common multiple anomaly syndromes, with an incidence of approximately one per 4000 newborns. Although a patient may have several not too severe symptoms, the cumulative effect may be substantial disability. The aim of this study was to explore and describe parents' experiences of the diagnostic process and of being parents of a child with 22q11DS.
Open, tape-recorded interviews were carried out with 12 parents. The interviews were analysed in accordance with classical grounded theory.
The analysis show that parents describe the disclosure of their child's medical diagnosis as two-sided, ambivalence between relief and sorrow, and the differences between these two aspects were related to the age of the child at time of diagnosis as well as to the problems and symptoms that had led to the diagnosis. Different strategies for handling this ambivalence are presented in the categories.
Our conclusions are that information must be individually tailored, and there is no standard format for how to describe the syndrome to the parents. After disclosure, scheduled appointments for follow-up on diagnosis-related information is essential.
22q11缺失综合征（22q11DS）是最常见的多重异常综合征之一，发病率约为每4000名新生儿中有1例。尽管患者可能有几种不太严重的症状，但累积影响可能导致严重残疾。本研究的目的是探讨和描述父母在诊断过程中的经历以及作为22q11DS患儿父母的经历。
对12名父母进行了开放式录音访谈。访谈按照经典扎根理论进行分析。
分析表明，父母将孩子医学诊断的告知描述为具有两面性，在解脱与悲伤之间存在矛盾情绪，这两个方面的差异与诊断时孩子的年龄以及导致诊断的问题和症状有关。不同类别中呈现了处理这种矛盾情绪的不同策略。
我们的结论是，信息必须根据个体情况进行定制，对于如何向父母描述该综合征没有标准格式。在告知诊断后，安排与诊断相关信息的后续预约至关重要。
