接受智力残疾自闭症的新基因诊断:父母对家庭生育决策影响的看法。

IF 1.5 Q4 GENETICS & HEREDITY
Journal of Community Genetics Pub Date : 2024-02-01 Epub Date: 2023-10-16 DOI:10.1007/s12687-023-00679-3
Robert Klitzman, Ekaterina Bezborodko, Wendy K Chung, Paul S Appelbaum
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引用次数: 0

摘要

接受新变异基因诊断的自闭症儿童的父母在理解其对生殖决策的影响方面面临挑战。我们采访了28位因孩子自闭症和智力残疾(ID)而接受新基因诊断的父母。事实证明,这些基因变异不仅对孩子的父母,而且对孩子及其神经正常的兄弟姐妹、阿姨、叔叔和表兄弟姐妹都有生殖影响。父母通常已经完成了家庭建设,但总体而言,结果是否影响或可能影响了他们的生育决定,各不相同。父母的观点不仅受到遗传因素的影响,还受到父母年龄、经济考虑、对家庭未来的相互竞争的希望和愿景、照顾另一个有类似症状的孩子的感知能力以及孩子症状程度的影响。一对夫妇的成员有时会在是否要更多孩子的问题上产生分歧。父母也在思考植入前基因检测的可能性,尽管人们对此产生了误解。自闭症儿童在理解基因诊断对自己生殖影响的能力方面差异很大。神经典型的后代知道自己的孩子不会受到影响后松了一口气。虽然一些自闭症自我倡导者担心与自闭症相关的基因测试可能会导致优生学,但目前关于新基因发现的数据提出了其他观点。这些数据首次探索了基因诊断对这一群体生殖影响的几个关键方面,对未来的实践、教育和研究——例如,涉及不同家庭成员——具有重要意义。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Receiving de novo genetic diagnoses for autism with intellectual disability: parents' views of impacts on families' reproductive decisions.

Parents of children with autism who receive genetic diagnoses of de novo variants face challenges in understanding the implications for reproductive decision-making. We interviewed 28 parents who received de novo genetic diagnoses for their child's autism and intellectual disability (ID). These genetic variants proved to have reproductive implications for not only the child's parents, but the child and his/her neurotypical siblings, aunts, uncles, and cousins. Parents had often already finished building their families but varied, overall, in whether the results had affected, or might have influenced, their reproductive decisions. Parents' views were shaped by factors related to not only genetics, but also parental age, financial considerations, competing hopes and visions for their family's future, perceived abilities to care for an additional child with similar symptoms, and the extent of the child's symptoms. Members of a couple sometimes disagreed about whether to have more children. Parents pondered, too, the possibility of preimplantation genetic testing, though misunderstandings about it arose. Children with autism vary widely in their abilities to understand the reproductive implications of genetic diagnoses for themselves. Neurotypical offspring were much relieved to understand that their own children would not be affected. While some autism self-advocates have been concerned that genetic testing related to autism could lead to eugenics, the present data, concerning de novo genetic findings, raise other perspectives. These data, the first to explore several key aspects of the reproductive implications of genetic diagnoses for this group, have important implications for future practice, education, and research-e.g., concerning various family members.

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来源期刊
Journal of Community Genetics
Journal of Community Genetics GENETICS & HEREDITY-
CiteScore
3.30
自引率
5.30%
发文量
54
期刊介绍: The Journal of Community Genetics is an international forum for research in the ever-expanding field of community genetics, the art and science of applying medical genetics to human communities for the benefit of their individuals. Community genetics comprises all activities which identify persons at increased genetic risk and has an interest in assessing this risk, in order to enable those at risk to make informed decisions. Community genetics services thus encompass such activities as genetic screening, registration of genetic conditions in the population, routine preconceptional and prenatal genetic consultations, public education on genetic issues, and public debate on related ethical issues. The Journal of Community Genetics has a multidisciplinary scope. It covers medical genetics, epidemiology, genetics in primary care, public health aspects of genetics, and ethical, legal, social and economic issues. Its intention is to serve as a forum for community genetics worldwide, with a focus on low- and middle-income countries. The journal features original research papers, reviews, short communications, program reports, news, and correspondence. Program reports describe illustrative projects in the field of community genetics, e.g., design and progress of an educational program or the protocol and achievement of a gene bank. Case reports describing individual patients are not accepted.
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