Demarest Scott, Marsh Rebekah, Treat Lauren, Fisher Michael P, Dempsey Amanda, Junaid Mohammed, Downs Jenny, Leonard Helen, Benke Tim, Morris Megan A
Adult and Child Consortium for Health Outcomes Research Science, University of Colorado.
Department of Pediatrics, University of Colorado.
J Child Neurol. 2022 May;37(6):451-460. doi: 10.1177/08830738221076285. Epub 2022 Feb 23.
CDKL5 deficiency disorder (CDD), a severe developmental and epileptic encephalopathy, is being diagnosed earlier with improved access to genetic testing, but this may also have unanticipated impacts on parents' experience receiving the diagnosis. This study explores the lived experience of parents receiving a diagnosis of CDD for their child using mixed methods. Thirty-seven semistructured interviews were conducted with parents of children with a diagnosis of CDD, which were coded and analyzed to identify themes. Grief was a nearly universal theme expressed among participants. Parents of younger children discussed grief in the context of receiving the diagnosis, whereas parents of older children indicated they were at different stages along the grieving journey when they received the diagnosis. Parents with less understanding of their child's prognosis (poorer prognostic awareness) connected their grief to receiving the diagnosis as this brought a clear understanding of the prognosis. Several themes suggested what providers did well to improve the diagnostic experience for parents, much of which aligns with existing literature around how to provide serious news. Additionally, parents identified long-term benefits of having a diagnosis for their child's medical problems. Although interview data were concordant with a survey of parents' diagnostic experience from a large international cohort, most participants in this study were relatively affluent, white mothers and further research is needed to better understand if other groups of parents have a different diagnostic experience. This study gives context of parental experience that providers should be aware of when conveying new genetic diagnoses to families.
CDKL5缺乏症（CDD）是一种严重的发育性和癫痫性脑病，随着基因检测机会的增加，其诊断时间提前，但这也可能对父母接受诊断的体验产生意想不到的影响。本研究采用混合方法探讨了父母为孩子接受CDD诊断的实际经历。对37名被诊断患有CDD的儿童的父母进行了半结构化访谈，并对访谈内容进行编码和分析以确定主题。悲伤是参与者中几乎普遍表达的主题。年幼儿童的父母在接受诊断的背景下讨论悲伤，而年龄较大儿童的父母表示，他们在接受诊断时处于悲伤过程的不同阶段。对孩子预后了解较少（预后意识较差）的父母将他们的悲伤与接受诊断联系起来，因为这使他们对预后有了清晰的认识。几个主题表明了医疗服务提供者在改善父母诊断体验方面做得很好的方面，其中许多与关于如何传达严重消息的现有文献一致。此外，父母们认识到为孩子的医疗问题进行诊断的长期益处。尽管访谈数据与一项来自大型国际队列的父母诊断体验调查结果一致，但本研究中的大多数参与者是相对富裕的白人母亲，需要进一步研究以更好地了解其他父母群体是否有不同的诊断体验。这项研究提供了父母体验的背景信息，医疗服务提供者在向家庭传达新的基因诊断时应予以关注。
