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Evaluating the Risks and Benefits of Genetic and Pharmacologic Interventions for Down Syndrome: Views of Parents

机译:评估遗传和药理学干预措施对综合征的风险和益处:父母的意见

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摘要

Researchers are investigating new technologies to mitigate or prevent symptoms of Down syndrome (DS), including chromosome silencing and pharmacotherapy. We surveyed parents of individuals with DS to assess their opinions on two hypothetical scenarios describing prenatal chromosome silencing and pediatric pharmacological intervention to improve neurocognition in children with DS. Although a slim majority of participants supported the availability of both therapies, respondent support was contingent on the risks presented, including the risk of miscarriage in the prenatal intervention and the impact of pharmaceuticals on their children's personality. Many parents expressed ambivalence, articulating a desire to improve their children's quality of life but requiring more safety and efficacy research before agreeing to a genetic or pharmacological intervention.
机译:研究人员正在调查新技术,以减轻或预防唐氏综合征(DS)的症状,包括染色体沉默和药物疗法。 我们通过DS调查了个人的父母,以评估他们对描述产前染色体沉默和儿科药理学干预的两个假想情景,以改善DS儿童的神经造影。 虽然苗条大多数参与者支持两种疗法的可用性,但受访者支持取决于所提出的风险,包括产前干预中流产的风险以及药物对其儿童人格的影响。 许多父母表达了矛盾的,阐明了提高孩子的生活质量,但在同意遗传或药理学干预之前需要更多的安全性和疗效研究。

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