Genetic therapies have shown recent promise in alleviating some of the cognitive issues associated with some genetic disorders; however, these therapies may come with significant health and socio‐ethical concerns, particularly when they involve child participants. Little is known about what parents of children with genetic disorders think about genetic therapies, or about their knowledge of how genetic‐based therapy might treat their child's symptoms. Forty‐two parents of children with Angelman syndrome (AS) and 27 parents of a mixed etiology comparison group completed an online survey reporting on their perceptions of, and priorities for, genetic therapy. Almost all parents of children with AS (95%) and the comparison group (89%) agreed that treatments aiming to reduce symptoms associated with their child's syndrome were positive. However, significantly more parents of children with AS (95%) than the comparison group (56%) felt that genetic treatment trials aiming to “cure” their child should be a research priority. AS parent priorities for the focus of clinical trials were neurology/seizures, communication skills, and motor skills/mobility. For the comparison group, the priorities were IQ, immune response, and expressive speech. Parents of both groups did not want treatments to change their child's personality or their happiness. Global assumptions cannot be made about targets for therapy between syndromes, about parental understanding of genetics, or about research evidence across syndromes. This study highlights the need for true family and patient engagement in all stages of the research design and treatment evaluation.

中文翻译：

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父母对患有Angelman综合征的儿童进行基因治疗和治愈的看法，信念和恐惧。

遗传疗法在减轻与某些遗传性疾病有关的一些认知问题方面显示出了近期的前景。但是，这些疗法可能会带来严重的健康和社会伦理问题，尤其是在涉及儿童参加者的情况下。对于遗传性疾病儿童的父母对遗传疗法的看法，或者他们对基于遗传的疗法如何治疗孩子的症状的知识知之甚少。42名患有Angelman综合征（AS）的孩子的父母和27名混合病因学比较组的父母完成了一项在线调查，报告了他们对基因治疗的看法和重点。几乎所有患有AS儿童的父母（95％）和对照组（89％）都同意旨在减轻与孩子综合征相关的症状的治疗是阳性的。然而，AS儿童的父母（95％）比对照组（56％）多得多，他们认为旨在“治愈”其孩子的基因治疗试验应作为研究的重点。作为临床试验重点的AS父母优先级是神经科/癫痫发作，沟通技能和运动技能/运动能力。对于比较组，重点是智商，免疫应答和表达能力。两组父母都不希望接受治疗来改变孩子的个性或幸福。不能对综合症之间的治疗目标，父母对遗传学的理解或综合症之间的研究证据做出全局假设。这项研究强调了在研究设计和治疗评估的所有阶段都需要真正的家庭和患者参与。