Project 2: Psychosocial impact of autism genetic risk information on parents

项目2：自闭症遗传风险信息对父母的心理社会影响

• 批准号: 10698085
• 负责人: Paul Stuart Appelbaum
• 金额: $ 18.47万
• 依托单位: COLUMBIA UNIVERSITY HEALTH SCIENCES
• 依托单位国家: 美国
• 财政年份: 2022
• 资助国家: 美国
• 起止时间: 2022-09-06 至 2027-08-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10698085
• 关键词: Abbreviations; Affect; Age Months; Age of Onset; Anxiety; Autism Diagnosis; Behavioral; Caregivers; Child; Child Development; Child Rearing; Collaborations; Color; Communication; Computer Analysis; Data; Decision Making; Diagnosis; Diagnostic; Doctor of Philosophy; Early Intervention; Emotions; Evaluation; Family; Family dynamics; Feeling hopeless; Funding; Future; Genes; Genetic Risk; Genetic Screening; Genomics; Guilt; Impairment; Individual; Infant; Interdisciplinary Study; Intervention; Interview; Lead; Learning; Life; Link; Matched Group; Measures; Medical; Monitor; Neonatal Screening; Neurodevelopmental Disorder; Newborn Infant; Parent-Child Relations; Parents; Pathogenicity; Personal Satisfaction; Predisposition; Reaction; Research; Research Personnel; Risk; Sampling; Severities; Statistical Data Interpretation; Stress; Surveys; Symptoms; Test Result; Time; Treatment/Psychosocial Effects; Uncertainty; autism spectrum disorder; biobehavior; clinical diagnosis; cohort; data sharing; emotional reaction; expectation; experience; follow-up; genetic disorder diagnosis; genetic information; genetic testing; genetic variant; genome sequencing; help-seeking behavior; internalized stigma; outreach; parent project; policy implication; population based; prospective; psychosocial; reproductive; response; risk prediction; risk variant; satisfaction; social; whole genome

PROJECT SUMMARY Population-based newborn screening through sequencing-based genetic testing to predict risk of autism before symptoms emerge may benefit families, e.g., by facilitating early assessment and intervention, but the prospect also raises questions about the effects of this information on parents. PROGRESS Center Project 2 will examine the behavioral and psychosocial impact of informing parents about their newborn’s elevated genetic risk of developing autism. Led by researchers with extensive experience investigating the impact of genetic information, the project will collect empirical data both to characterize the immediate effects of the genetic information and to understand how its impact unfolds over the course of the first two years of the child’s life. We will survey parents who learn that their newborn is genetically susceptible to autism immediately after they receive this genetic information, comparing their responses to those of parents whose children were not identified as being at genetic risk of autism to assess the impact of the genetic information on parents’ emotions, relationships, life plans, intentions, and expectations. We will also investigate the stability of these effects by resurveying the parents 12 months after completion of the initial survey. In addition, we will examine how ultimately receiving an autism diagnosis colors retrospective evaluations of the effects of receiving the genetic information during the newborn period by surveying parents from the identified genetic risk (IGR) group whose children did and did not receive an autism diagnosis at 24 months of age. We will explore parental reactions in further depth using qualitative interviews to understand the impact and value of receiving genetic information. Interviews will be conducted with a diverse sample of parents of children from the IGR group, exploring their emotional reactions, impact on expectations about their children’s lives, impact on parenting behavior, and views about whether and how such information should be delivered to parents in the future. Additional interviews with parents whose children receive an autism diagnosis during the study will explore their views on having earlier received genetic risk information. Project 2 will be an integral part of the Center and will be closely linked to Project 1 (which will identify the cohort of IGR newborns) and Project 3 (with which Project 2 will share data to study the relationship between quantitative psychosocial measures and observed parent-child interactions), as well as with the Assessment Core (which will identify families whose children meet criteria for autism and collaborate on post-diagnosis surveys), the Statistical and Computational Analysis Core (which will assist in the analysis of quantitative data), and the Dissemination and Outreach Core (which will collaborate on the communication of Project 2’s findings and their social, bioethical, and policy implications to relevant stakeholders). Project 2’s findings will allow clinicians to anticipate the consequences of providing parents of newborns with genetic information regarding susceptibility to autism, setting the stage for more effective communication, mitigation of negative effects, and enhancement of positive adaptations.

项目概要 通过基于测序的基因检测进行基于人群的新生儿筛查，以预测自闭症风险 出现的症状可能会使家庭受益，例如通过促进早期评估和干预，但前景 还提出了有关此信息对家长的影响的问题。进展中心项目 2 将检查。 告知父母新生儿遗传风险升高对行为和心理社会的影响 由具有丰富研究遗传影响经验的研究人员领导。 信息，该项目将收集经验数据，以表征遗传的直接影响 信息并了解其影响在孩子出生后的头两年中如何展开 我们将对那些得知自己的新生儿在遗传上易患自闭症的父母进行调查。 他们收到这些遗传信息，并将自己的反应与孩子没有遗传信息的父母的反应进行比较 被确定具有自闭症遗传风险，以评估遗传信息对父母情绪的影响， 我们还将通过以下方式研究这些影响的稳定性。 初次调查完成 12 个月后对家长进行重新调查 此外，我们将研究如何进行。 最终接受自闭症诊断对接受遗传基因的影响进行回顾性评估 通过对已确定的遗传风险 (IGR) 群体的父母进行调查，了解新生儿期间的信息 儿童在 24 个月大时是否被诊断出自闭症 我们将探讨父母的反应。 使用定性访谈进一步深入了解接收遗传信息的影响和价值。 将对来自 IGR 群体的儿童家长进行不同样本的访谈，探讨他们的情况 情绪反应、对孩子生活期望的影响、对养育行为和观点的影响 关于未来是否以及如何向家长提供额外的访谈。 孩子在研究期间被诊断为自闭症的父母将探讨他们对早期自闭症诊断的看法 项目 2 将成为该中心的一个组成部分，并将与该中心密切相关。 项目 1（将识别 IGR 新生儿队列）和项目 3（项目 2 将与其共享数据 研究定量心理社会测量与观察到的亲子互动之间的关系），如 以及评估核心（它将确定其孩子符合自闭症标准的家庭和 合作进行诊断后调查）、统计和计算分析核心（这将协助 定量数据分析），以及传播和外展核心（将在 向相关人员传达项目 2 的研究结果及其社会、生物伦理和政策影响 项目 2 的研究结果将使祖先能够预测提供父母的后果。 具有有关自闭症易感性遗传信息的新生儿，为更有效的治疗奠定了基础 沟通、减轻负面影响并加强积极适应。