Atkinson Christy, Lee Yong Quan, Lauretta Mariana L, Jarmolowicz Anna, Amor David J, Morgan Angela T
Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
Speech & Language, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Eur J Hum Genet. 2024 Dec 9. doi: 10.1038/s41431-024-01755-z.
Rare and typically severe motor speech disorders such as childhood apraxia of speech (CAS) and dysarthria affect about 1 in 1000 children. The genetic basis of these speech disorders is well-documented, with approximately 30% of children who undergo genomic testing receiving an explanatory genetic diagnosis. As more children with speech disorders are offered genetic testing, understanding parental views and experiences around genetic testing for their child is critical in providing effective pre- and post-test genetic counselling. This research explored parental attitudes, experiences, and perceived implications of pursuing genetic testing for their child with motor speech disorder. Semi-structured interviews were conducted with 20 parents of children with CAS or dysarthria who had undergone exome sequencing. Eight parents had received a genetic diagnosis for their child and 12 received uninformative genetic test results. Interviews were transcribed verbatim, co-coded, and analysed using reflexive thematic analysis. Parents were highly motivated to pursue genetic testing for their child's speech disorder due to the perceived personal, clinical, social, and financial utility in obtaining a genetic diagnosis. Regardless of testing outcome, parents experienced complex emotional responses in receiving their child's genetic test results. Parents whose child received a genetic diagnosis reported improved access to funding and clinical care; however, they also hoped for ongoing informational, clinical, and peer support in navigating the uncertainty surrounding their child's rare diagnosis. Conversely, parents who received uninformative genetic test results reported finding meaning in this test outcome, and used emotional-focused and problem-focused strategies to cope with their child's continued diagnostic odyssey.
罕见且通常较为严重的运动性言语障碍，如儿童言语失用症（CAS）和构音障碍，影响着约千分之一的儿童。这些言语障碍的遗传基础有充分记录，约30%接受基因组检测的儿童得到了具有解释性的基因诊断。随着越来越多言语障碍儿童接受基因检测，了解父母对于孩子基因检测的看法和经历，对于提供有效的检测前和检测后基因咨询至关重要。本研究探讨了父母对于为患有运动性言语障碍的孩子进行基因检测的态度、经历以及感知到的影响。对20位患有CAS或构音障碍且已接受外显子组测序的孩子的父母进行了半结构化访谈。8位父母为孩子得到了基因诊断，12位得到了无信息价值的基因检测结果。访谈内容逐字转录、共同编码，并采用反思性主题分析法进行分析。由于认为获得基因诊断具有个人、临床、社会和经济效用，父母们积极推动为孩子的言语障碍进行基因检测。无论检测结果如何，父母在收到孩子的基因检测结果时都经历了复杂的情绪反应。孩子得到基因诊断的父母报告称获得资金和临床护理的机会有所改善；然而，他们也希望在应对孩子罕见诊断的不确定性方面能持续获得信息、临床和同伴支持。相反，得到无信息价值基因检测结果的父母报告称从这一检测结果中找到了意义，并采用了以情绪为中心和以问题为中心的策略来应对孩子持续的诊断历程。
