Division of Medical Genetics, Saitama Children's Medical Center, 1-2, Chuo-ku Shintoshin, Saitama-shi, Saitama, 330-8777, Japan.
Sci Rep. 2022 Sep 8;12(1):15234. doi: 10.1038/s41598-022-19447-3.
Many parents face the dilemma of when, how, and what to disclose to their children regarding their genetic conditions. The purpose of this study was to learn about the experiences of parents regarding disclosing information to their children with genetic conditions. A questionnaire was sent to 378 parents of children and adolescents with the following genetic syndromes: 22q11.2 deletion syndrome, Beckwith-Wiedemann syndrome, Noonan syndrome, Russell-Silver syndrome, Kabuki syndrome, Williams syndrome, Prader-Willi syndrome, and Sotos syndrome. Findings were analyzed using descriptive statistics for multiple-choice questions. Of the parents surveyed, 158 (41.8%) responded to the questionnaires. The average age of children with genetic syndromes was 12 years. Sixty-seven parents had disclosed relevant information to their children, whereas 91 had not. Among them (who had disclosed information), out of 53 respondents who answered that their affected child had siblings, 50 had disclosed the genetic condition of the affected child to the siblings as well. Sixty-eight out of 91 respondents who had not told information to affected child were planning to disclose the information in the future. Many respondents who had disclosed information did not regret this. They felt good talking about genetic conditions, and had talked about genetic conditions with the affected children following disclosure. This study contributed to our understanding of the attitudes of parents towards disclosing information to children with genetic syndromes.
许多父母面临着何时、如何以及向子女透露其遗传状况的困境。本研究旨在了解父母向患有遗传疾病的子女透露信息的经验。向患有以下遗传综合征的 378 名儿童和青少年的父母发送了一份问卷:22q11.2 缺失综合征、贝-维二氏综合征、努南综合征、拉塞尔-西尔弗综合征、歌舞伎综合征、威廉姆斯综合征、普拉德-威利综合征和索托斯综合征。使用多项选择题的描述性统计分析来分析结果。在接受调查的父母中,有 158 人(41.8%)回答了问卷。患有遗传综合征的儿童的平均年龄为 12 岁。67 名父母向子女透露了相关信息,而 91 名父母没有。在其中(已透露信息的)53 名回答其患病子女有兄弟姐妹的受访者中,有 50 名也向兄弟姐妹透露了患病子女的遗传状况。在 91 名未向患病子女透露信息的受访者中,有 68 人计划在未来透露信息。许多透露信息的受访者并不对此感到后悔。他们觉得谈论遗传疾病很好,并且在透露后与患病儿童谈论了遗传疾病。这项研究有助于我们了解父母向患有遗传综合征的子女透露信息的态度。