Faux Dana, Schoch Kelly, Eubanks Sonja, Hooper Stephen R, Shashi Vandana
Genetic Counseling Program, University of North Carolina at Greensboro, Greensboro, NC, USA.
J Genet Couns. 2012 Dec;21(6):835-44. doi: 10.1007/s10897-012-9535-5. Epub 2012 Aug 31.
Most children with chromosome 22q11.2 deletion syndrome (22q11DS) have an IQ in the range that may allow them to be capable of understanding a genetic diagnosis despite mild intellectual disabilities. However, there are no publications that relate to the disclosure of a 22q11DS diagnosis to the affected child, or the factors that influence parents' disclosure to the child. A pilot study was conducted including eight semi-structured interviews with caregivers of children with 22q11DS, 10 to 17 years of age, to investigate the factors that influence how parents inform their children of the diagnosis. Six of eight participants had disclosed the diagnosis to the child, and most of these parents felt they could have benefited from additional advice from professionals to increase their confidence and success, as well as the child's comprehension of the information. Those who had not informed the child were uncertain about the words to use, how to initiate the conversation, or were concerned about the child's level of understanding. Our results demonstrate that genetics professionals should help prepare caregivers for conversations with their children about the diagnosis of 22q11DS, monitor the understanding of the diagnosis over time, and provide ongoing support.
大多数患有22q11.2缺失综合征（22q11DS）的儿童智商处于一定范围内，尽管有轻度智力障碍，但可能有能力理解基因诊断。然而，目前尚无关于向受影响儿童披露22q11DS诊断信息，或影响父母向孩子披露诊断信息的因素的相关出版物。我们进行了一项试点研究，对8名年龄在10至17岁的22q11DS患儿的照料者进行了半结构化访谈，以调查影响父母告知孩子诊断信息方式的因素。8名参与者中有6名已向孩子披露了诊断信息，这些父母中的大多数人认为，如果能从专业人士那里获得更多建议，以增强他们的信心并取得更好的效果，同时也能增进孩子对信息的理解，他们会受益匪浅。那些尚未告知孩子的人，对于用词、如何开启对话感到不确定，或者担心孩子的理解水平。我们的研究结果表明，遗传学专业人员应帮助照料者为与孩子谈论22q11DS诊断做好准备，长期监测孩子对诊断的理解情况，并提供持续支持。
