Project 3: Developmental trajectories in infants at genetic risk for autism

项目 3：具有自闭症遗传风险的婴儿的发育轨迹

基本信息

批准号：
10698091
负责人：
DIMA AMSO
金额：
$ 106.19万
依托单位：
COLUMBIA UNIVERSITY HEALTH SCIENCES
依托单位国家：
美国
项目类别：
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/10698091
关键词：
Age Months Anxiety Attention Auditory Auditory area Autism Diagnosis Autonomic nervous system Behavior Therapy Behavioral Symptoms Brain Brain Stem Cities Classification Cognitive Communication Complex Computer Analysis Data Development Diagnosis Diagnostic Doctor of Philosophy Early Diagnosis Early Intervention Electroencephalography Ethnic Origin Evaluation Facial Expression Family Foundations Frequencies Future Genetic Genetic Risk Genetic Screening Gestational Age Goals Hypersensitivity Infant Intervention Knowledge Language Language Development Lead Life Locomotion Measures Motor Movement Musculoskeletal Equilibrium Neurophysiology - biologic function Newborn Infant Nonverbal Communication Outcome Parents Pathway interactions Pattern Perception Phenotype Play Process Race Relative Risks Risk Role Sample Size Sampling Science Self Efficacy Sensory Shapes Social Development Statistical Data Interpretation Statistical Models Stimulus System Techniques Temperament Vision Visual Visual Cortex Visual attention autism spectrum disorder cohort contextual factors design experience fetal gaze gene environment interaction grasp heart rate variability high risk individuals with autism spectrum disorder infant outcome information gathering innovation joint attention knowledge integration multidisciplinary multisensory neural neurobehavioral neurodevelopment operation outreach postnatal prospective resilience response risk variant service intervention sex sleep quality social social communication sound sustained attention

项目摘要

PROJECT SUMMARY Genetic screening can now identify risk variants before the emergence of behavioral symptoms of autism. This advance affords opportunity for presymptomatic intervention in infants whose developmental trajectories indicate early deviation from typical patterns. To our knowledge, no prior study has examined whether the combination of genetic screening and precise trajectories of early neurodevelopmental pathways might enable earlier diagnosis in infants with identified genetic risk for autism. Based on this significant knowledge gap, Project 3 proposes to longitudinally assess neurodevelopment every 3 months when infants are 3 to 15 months of age. The PROGRESS cohort will include a final sample of N = 300 infants: N = 200 in the Identified Genetic Risk (IGR) group and N = 100 gestational age, sex, race/ethnicity, language, and zip code-matched control infants without Identified Genetic Risk (non-IGR). We will examine developmental trajectories of autonomic nervous system and neural function (Aim 1), information-gathering perception and action systems (Aim 2: visual, auditory, multisensory, motor), and social development and language/communication (Aim 3) to determine if and when these trajectories deviate across genetic risk groups. Being situated in the PROGRESS Center allows us to combine measures across multiple levels of analysis (Aim 4) including genetic risk (Project 1), parental experience and self-efficacy (Project 2), trajectories of neurodevelopment (Project 3), and diagnostic outcomes (Assessment Core). We pair this innovative design with sophisticated statistical modeling techniques (Statistical and Computational Analysis Core) to elucidate developmental mechanisms and to enable earlier diagnosis in infants at identified genetic risk for autism. We will partner with the Dissemination and Outreach Core to share emerging knowledge and to provide parents with appropriate support and linkage to early intervention services. In summary, Project 3 leverages a representative sampling strategy in a diverse large city, a large sample size paired with dense longitudinal assessments, and a multidisciplinary team science approach, to characterize neurobehavioral trajectories in infants at identified genetic risk of autism.

项目摘要基因筛查现在可以在自闭症行为症状出现之前识别风险变异。这 Advance为发育轨迹表明发育轨迹的婴儿提供了机会早期偏离典型模式。据我们所知，没有先前的研究检查了该组合是否遗传筛查和早期神经发育途径的精确轨迹可能会引起早期患有自闭症遗传风险的婴儿的诊断。基于这个重要的知识差距，项目3 建议在婴儿3至15个月大的时候每3个月纵向评估神经发育。进度队列将包括n = 300个婴儿的最终样本：n = 200在确定的遗传风险中（IGR）组和n = 100胎龄，性别，种族/种族，语言和邮政编码匹配的对照婴儿没有鉴定的遗传风险（非元）。我们将检查自主神经的发展轨迹系统和神经功能（AIM 1），信息收集感知和动作系统（AIM 2：视觉，听觉，多感官，运动）以及社会发展和语言/交流（目标3），以确定是否以及何时这些轨迹跨越遗传风险群体。位于进度中心使我们能够结合跨多个分析（目标4）的措施，包括遗传风险（项目1），父母经验和自我效能感（项目2），神经发育轨迹（项目3）和诊断结果（评估核心）。我们将这种创新设计与复杂的统计建模技术（统计和计算分析核心）以阐明发育机制并实现早期诊断处于自闭症的遗传风险的婴儿。我们将与传播和外展核心合作分享新兴的知识，并为父母提供与早期干预服务的适当支持和联系。总而言之，项目3利用了一个大型城市的代表性抽样策略，样本量很大与密集的纵向评估和多学科团队科学方法配对，以表征婴儿鉴定出自闭症遗传风险的婴儿的神经行为轨迹。