Telehealth Assessment of Syndromic Autism Risk in Infants

婴儿综合症自闭症风险的远程医疗评估

• 批准号: 10181077
• 负责人: Bridgette Lynne Kelleher
• 金额: $ 18.22万
• 依托单位: PURDUE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2017
• 资助国家: 美国
• 起止时间: 2017-06-15 至 2023-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10181077
• 关键词: Acoustics; Address; Affect; Angelman Syndrome; Arousal; Attention; Behavior; Behavioral; Biological; Characteristics; Child; Child Behavior; Clinical; Clinical Research; Code; Complement; Complex; Cross Syndrome; Crystallization; Data; Data Collection; Development; Disease; Doctor of Philosophy; Early identification; Engineering; Ethics; Etiology; Exhibits; Family; Foundations; Fragile X Syndrome; Genetic; Genetic Risk; Health Care Costs; Healthcare; Heart; Impaired health; Incidence; Individual; Infant; Intellectual functioning disability; Interdisciplinary Study; Intervention; Interview; K-Series Research Career Programs; Knowledge; Laboratories; Literature; Logistics; Measurement; Measures; Mentored Patient-Oriented Research Career Development Award; Mentors; Mentorship; Methodology; Methods; Modeling; Motor Skills; Outcome; Parents; Participant; Pathway interactions; Phenotype; Physiological; Play; Property; Protocols documentation; Psychologist; Psychometrics; Psychopathology; Psychophysiology; Public Health; Recording of previous events; Reporting; Research; Risk; Risk Factors; Sampling; Siblings; Surveillance Methods; Symptoms; Syndrome; Techniques; Technology; Temperament; Time; Training; Travel; United States; Validation; Vent; Visual attention; Work; Writing; age effect; autism spectrum disorder; autistic children; base; biobehavior; biobehavioral measurement; cost; cost efficient; disorder risk; dyadic interaction; gene environment interaction; high risk; high risk infant; high risk population; improved; innovation; mouse model; neurodevelopment; neurogenetics; novel; patient oriented; programs; prospective; skills; social communication; symptom treatment; syndromic surveillance; targeted treatment; telehealth; tool; translational impact; treatment trial

PROJECT SUMMARY / ABSTRACT Despite affecting 1 in 68 United States children, the mechanisms and early course of autism spectrum disorder (ASD) are largely unknown, delaying initiation of interventions known to alter the course of behavioral and neural development. Current studies of ASD emergence largely focus on infant siblings of children with ASD (ASIBs) who exhibit 20 times higher ASD risk than children without a family history. As a complement to this approach, studying the emergence of ASD in high-risk neurogenetic syndromes informs: (1) the generalizability of behav- ioral ASD “red flags” to non-ASIBs, given the majority of children with ASD do not have positive sibling histories, and (2) genetic and biological pathways subserving ASD features, facilitating mechanistically-sensitive treat- ments. However, syndromic ASD studies are rarely attempted in infants due to the high costs, travel demands, and logistical challenges of assessing low-incidence groups. Furthermore, existing telehealth methods that could circumvent these challenges are not compatible with experimental, laboratory-based methods (e.g. visual atten- tion tasks, psychophysiology) sensitive to ASD risk. This Mentored Patient-Oriented Research Career Develop- ment Award (K23) will prepare Dr. Tonnsen, a clinically trained psychologist with expertise in ASD emergence in syndromic infants, to address these barriers by establishing a novel, telehealth-based assessment framework for prodromal ASD surveillance. This project leverages the candidate’s current expertise in biobehavioral pre- dictors of ASD through additional mentored training in (1) new ASD risk domains outside of her current expertise (e.g. social communication, motor skills), (2) telehealth-based clinical research, (3) mechanisms and pathways of syndromic ASD, (4) psychometrics and measurement, and (5) program management, academic writing, and ethics. Primary mentors are experts in the measurement of developmental psychopathology (Don Lynam, Ph.D.), syndromic ASD and telehealth (Leonard Abbeduto, Ph.D.), and social communication development in infants (Amanda Seidl, Ph.D.). Additional training is provided by a national team of experts across both patient-oriented (e.g. clinical profiles, treatment trials, healthcare engineering) and basic (e.g. genetics, mouse models) domains. With the support of her mentorship team, Dr. Tonnsen will develop and validate a telehealth assessment battery of prodromal ASD risk in local infants with syndromic intellectual disability (Aim 1). She will then remotely apply the battery to a national longitudinal sample of infants with Angelman syndrome (50% ASD risk) and fragile X syndrome (25-60% ASD risk; Aim 2) to generate preliminary data and hypotheses for a subsequent R01. The proposed research is innovative because it represents a substantial departure from current methodological frameworks and participant samples for prospective ASD studies, laying the foundation for higher-powered, lower-cost, and wider-reaching studies of ASD emergence. Furthermore, the protected time, training, and data afforded by this project will crystallize Dr. Tonnsen’s path to independence as an interdisciplinary expert in re- mote surveillance of syndromic ASD in infants.

项目概要/摘要 尽管影响了六分之一的美国儿童，但自闭症谱系障碍的机制和早期病程 （自闭症谱系障碍）在很大程度上是未知的，延迟了已知可改变行为和神经过程的干预措施的启动 目前对自闭症谱系障碍 (ASD) 出现的研究主要集中在患有自闭症谱系障碍 (ASIB) 儿童的婴儿兄弟姐妹上。 与没有家族史的儿童相比，自闭症谱系障碍 (ASD) 风险高出 20 倍。 研究高危神经遗传综合征中自闭症谱系障碍（ASD）的出现可以告诉我们：（1）行为的普遍性 鉴于大多数患有 ASD 的儿童没有正面的兄弟姐妹病史，因此对于非 ASIB 来说，口腔 ASD 是“危险信号”， (2) 遗传和生物途径促进 ASD 特征，促进机械敏感治疗 然而，由于高昂的费用、旅行需求、 此外，现有的远程医疗方法可以解决评估低发病率群体的后勤挑战。 规避这些挑战与基于实验的、基于实验室的方法（例如视觉注意）不兼容 这项指导性的以患者为导向的研究职业发展对 ASD 风险敏感。 精神奖 (K23) 将为 Tonnsen 博士做好准备，他是一位接受过自闭症谱系障碍 (ASD) 出现专业知识培训的临床心理学家 在综合症婴儿中，通过建立一个新颖的、基于远程医疗的评估框架来解决这些障碍 该项目利用了候选人目前在生物行为前期的专业知识。 自闭症谱系障碍 (ASD) 的管理者，通过在 (1) 目前专业知识之外的新自闭症谱系障碍 (ASD) 风险领域进行额外的指导培训 （例如社交沟通、运动技能），(2) 基于远程医疗的临床研究，(3) 机制和途径 综合症心理测量学和测量，以及（5）项目管理、学术写作，以及 主要导师是发展精神病理学测量专家（Don Lynam，博士）， 自闭症谱系障碍和远程医疗（Leonard Abbeduto 博士）以及婴儿的社交沟通发展 （Amanda Seidl 博士）由国家专家团队提供以患者为导向的额外培训。 （例如临床概况、治疗试验、医疗保健工程）和基础（例如遗传学、小鼠模型）领域。 在导师团队的支持下，Tonnsen 博士将开发并验证远程医疗评估电池 当地患有综合症智力障碍的婴儿的前驱 ASD 风险（目标 1）然后她将远程申请。 对患有 Angelman 综合征（50% 自闭症谱系障碍风险）和脆弱 X 婴儿的全国纵向样本的电池 综合征（25-60% ASD 风险；目标 2），为后续 R01 生成初步数据和假设。 拟议的研究具有创新性，因为它与当前的方法论有很大的不同 前瞻性 ASD 研究的框架和参与者样本，为更强大的、 对自闭症谱系障碍（ASD）出现的成本较低、影响范围更广的研究此外，还包括受保护的时间、培训和数据。 该项目所提供的资金将使 Tonnsen 博士作为跨学科专家的独立之路具体化。 婴儿自闭症谱系障碍的微粒监测。

项目成果

Describing Vocalizations in Young Children: A Big Data Approach Through Citizen Science Annotation.

描述幼儿的发声：通过公民科学注释的大数据方法。

• 发表时间: 2021-07-16
• 作者: Semenzin, Chiara;Hamrick, Lisa;Seidl, Amanda;Kelleher, Bridgette L;Cristia, Alejandrina
• 通讯作者: Cristia, Alejandrina

Everyday language input and production in 1,001 children from six continents.

来自六大洲 1,001 名儿童的日常语言输入和产生。

• 发表时间: 2023-12-26
• 影响因子: 11.1
• 作者: Bergelson, Elika;Soderstrom, Melanie;Schwarz, Iris;Rowland, Caroline F;Ramírez;R Hamrick, Lisa;Marklund, Ellen;Kalashnikova, Marina;Guez, Ava;Casillas, Marisa;Benetti, Lucia;Alphen, Petra van;Cristia, Alejandrina
• 通讯作者: Cristia, Alejandrina

Intergenerational Transmission of Frontal Alpha Asymmetry Among Mother-Infant Dyads.

母婴二人中额叶阿尔法不对称的代际传递。

• 发表时间: 2020
• 作者: Hill, Kaylin E;Neo, Wei Siong;Hernandez, Alexis;Hamrick, Lisa R;Kelleher, Bridgette L;Foti, Dan
• 通讯作者: Foti, Dan

Acoustic properties of early vocalizations in infants with fragile X syndrome.

脆性 X 综合征婴儿早期发声的声学特性。

• 发表时间: 2019
• 作者: Hamrick, Lisa R;Seidl, Amanda;Tonnsen, Bridgette L
• 通讯作者: Tonnsen, Bridgette L

Brief Report: Assessment Experiences of Children with Neurogenetic Syndromes: Caregivers' Perceptions and Suggestions for Improvement.

简要报告：神经遗传综合症儿童的评估经验：护理人员的看法和改进建议。

• 发表时间: 2020-04
• 影响因子: 3.9
• 作者: Kelleher, Bridgette;Halligan, Taylor;Garwood, Tessa;Howell, Samantha;Martin;Swint, Amber;Shelton, Liberty;Shin, Joey
• 通讯作者: Shin, Joey