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.

项目摘要/摘要 尽管每68个美国儿童中就有一个受到影响，但自闭症谱系障碍的机制和早期病程 (ASD)在很大程度上是未知的，推迟了已知的改变行为和神经过程的干预措施的启动 发展。目前对ASD出现的研究主要集中在ASD儿童的婴儿兄弟姐妹(ASIBs)。 他们表现出比没有家族史的儿童高20倍的自闭症风险。作为这种方法的补充， 对ASD在高危神经遗传综合征中的出现的研究揭示：(1)行为的概括性- 鉴于大多数ASD儿童没有积极的兄弟姐妹史，ASD对非ASIB儿童发出了危险信号。 和(2)遗传和生物途径替代ASD特征，促进机制敏感的治疗-- 曼茨。然而，由于费用高，旅行需求大， 以及评估低发病率群体的后勤挑战。此外，现有的远程医疗方法可以 避免这些挑战与基于实验室的实验方法不兼容(例如，视觉特效 运动任务、心理生理学)对自闭症风险敏感。这位以患者为中心的研究生涯发展导师- 蒙特奖(K23)将培养Tonnsen博士，他是一位受过临床培训的心理学家，具有ASD急救方面的专业知识 通过建立一种新的、基于远程健康的评估框架来解决这些障碍 用于前驱ASD监测。这个项目利用了候选人目前在生物行为前的专业知识。 通过(1)当前专业知识之外的新ASD风险领域的额外指导培训来评估ASD的风险 (2)基于远程保健的临床研究；(3)机制和途径 (4)心理测量学和测量，(5)项目管理，学术写作，以及 伦理道德。初级导师是发展精神病理学测量方面的专家(唐·莱纳姆博士)， 综合症自闭症和远程保健(Leonard Abbeduto，Ph.D.)，以及婴儿的社交能力发展 (Amanda Seidl，博士)额外的培训由国家专家团队提供，包括以患者为中心的 (如临床概况、治疗试验、医疗工程)和基础(如遗传学、小鼠模型)领域。 在她的指导团队的支持下，Tonnsen博士将开发并验证远程健康评估电池 对患有综合征性智力残疾的本地婴儿先兆自闭症风险的评估(目标1)。然后她将远程申请 对患有Angelman综合征(50%ASD风险)和脆性X的婴儿的全国纵向样本的电池 综合征(25-60%的ASD风险；目标2)为后续的R01生成初步数据和假设。这个 拟议的研究是创新的，因为它代表了对当前方法论的重大偏离 未来ASD研究的框架和参与者样本，为更高能力的 成本更低，研究范围更广的ASD的出现。此外，受保护的时间、培训和数据 这个项目提供的资金将使Tonnsen博士作为一名跨学科的专家在重新 婴幼儿综合征型房间隔缺损的微尘监测。

项目成果

Autism Spectrum Disorder-Associated Behaviour in Infants with Down Syndrome.

唐氏综合症婴儿自闭症谱系障碍相关行为。

• 发表时间: 2020
• 期刊: Journal of health science & education
• 作者: Hahn,LauraJ;Hamrick,LisaM;Kelleher,BridgetteL;Roberts,JaneE
• 通讯作者: Roberts,JaneE

Infant Social Avoidance Predicts Autism but Not Anxiety in Fragile X Syndrome.

婴儿的社交回避可以预测自闭症，但不能预测脆性 X 综合症的焦虑。

• DOI: 10.3389/fpsyt.2019.00199
• 发表时间: 2019
• 期刊: Frontiers in psychiatry
• 影响因子: 4.7
• 作者: Roberts,JaneE;Crawford,Hayley;Will,ElizabethA;Hogan,AbigailL;McQuillin,Samuel;Tonnsen,BridgetteL;O'Connor,Shannon;Roberts,DouglasA;Brewe,AlexisM
• 通讯作者: Brewe,AlexisM

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。

• DOI: 10.1044/2021_jslhr-20-00661
• 发表时间: 2021
• 期刊: Journal of speech, language, and hearing research : JSLHR
• 作者: Semenzin,Chiara;Hamrick,Lisa;Seidl,Amanda;Kelleher,BridgetteL;Cristia,Alejandrina
• 通讯作者: Cristia,Alejandrina

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

• DOI: 10.1016/j.bpsc.2019.12.003
• 发表时间: 2020-04
• 期刊: Biological psychiatry. Cognitive neuroscience and neuroimaging
• 作者: Hill KE;Neo WS;Hernandez A;Hamrick LR;Kelleher BL;Foti D
• 通讯作者: Foti D

COVID-19 and behaviors in children with autism spectrum disorder: Disparities by income and food security status.

• DOI: 10.1016/j.ridd.2021.104002
• 发表时间: 2021-08
• 期刊: Research in developmental disabilities
• 影响因子: 3.1
• 作者: Panjwani AA;Bailey RL;Kelleher BL
• 通讯作者: Kelleher BL