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Evaluating the Risks and Benefits of Genetic and Pharmacologic Interventions for Down Syndrome: Views of Parents
American Journal on Intellectual and Developmental Disabilities ( IF 1.9 ) Pub Date : 2020-01-01 , DOI: 10.1352/1944-7558-125.1.1
Kirsten A. Riggan 1 , Christina Nyquist 1 , Marsha Michie 1 , Megan A. Allyse 1
Affiliation  

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.

中文翻译:

评估唐氏综合症遗传和药物干预的风险和收益:父母的观点

研究人员正在研究减轻或预防唐氏综合症(DS)症状的新技术,包括染色体沉默和药物疗法。我们调查了患有DS的个体的父母,以评估他们对描述产前染色体沉默和改善DS患儿神经认知的儿科药理干预的两种假设情景的看法。尽管只有极少数的参与者支持两种疗法的使用,但受访者的支持取决于所呈现的风险,包括产前干预中流产的风险以及药物对其孩子性格的影响。许多父母表达了矛盾情绪,表达了改善自己子女的愿望。
更新日期:2020-01-01
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