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

基本信息

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
项目类别：
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

项目摘要

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 /摘要尽管影响了68个美国儿童中的1个，但自闭症谱系障碍的机制和早期过程（ASD）在很大程度上是未知的，延迟了已知的干预措施的主动性，以改变行为和中立的过程发展。当前对ASD出现的研究主要集中在ASD儿童的婴儿兄弟姐妹（ASIB）他们表现出的ASD风险是没有家族史的儿童的20倍。为了完成此方法，研究高危神经遗传综合症中ASD的出现信息：（1）行为的普遍性鉴于大多数ASD的儿童没有积极的兄弟姐妹历史（2）遗传和生物学途径可扩展ASD特征，支持机械敏感的治疗 ments。但是，由于高昂的成本，旅行要求，很少尝试婴儿ASD研究。以及评估低收入组的后勤挑战。此外，现有的远程医疗方法可以规避这些挑战与实验，基于实验室的方法不兼容（例如，视觉参加 - 对ASD风险敏感的任务，心理生理学。这项指导了以患者为导向的研究职业发展 - Ment Award（K23）将为拥有ASD出现专业知识的临床培训心理学家Tonnsen博士准备在综合症婴儿中，通过建立一个基于远程医疗的新型评估框架来解决这些障碍对于前驱ASD监视。该项目利用了候选人在生物行为前的当前专业知识通过（1）新的ASD风险域中的其他修补培训在其当前的专业知识之外，ASD的命令是通过（1）新的ASD风险域名（例如，社会交流，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ASD，（4）心理计量学和测量以及（5）计划管理，学术写作和伦理。主要导师是衡量发展心理病理学的专家（Don Lynam，Ph.D。），综合症ASD和远程医疗（Leonard Abbeduto，Ph.D.）和婴儿的社会传播发展（Amanda Seidl，博士）。额外的培训是由国家专家团队提供的，以患者为导向（例如，临床概况，治疗试验，医疗工程）和基本（例如遗传学，小鼠模型）域。在她的Mentalship团队的支持下，Tonnsen博士将开发和验证远程医疗评估电池综合症智力障碍当地婴儿的前驱ASD风险（AIM 1）。然后她将远程申请与Angelman综合征（50％ASD风险）和脆弱X的婴儿纵向样本的电池综合征（25-60％的ASD风险；目标2）生成后续R01的初步数据和假设。这拟议的研究具有创新性，因为它与当前的方法论差异很大前瞻性ASD研究的框架和参与者样本，为高功率，奠定基础对ASD出现的较低成本和广泛的研究。此外，受保护的时间，培训和数据这个项目提供的将使汤森博士成为独立之路，成为跨学科专家婴儿综合征ASD的肌电监测。

项目成果

期刊论文数量（16）

专著数量（0）

科研奖励数量（0）

会议论文数量（0）

专利数量（0）

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。

DOI：
发表时间：
2020
期刊：
Journal of health science & education
影响因子：
0
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
影响因子：
0
作者：
Semenzin,Chiara;Hamrick,Lisa;Seidl,Amanda;Kelleher,BridgetteL;Cristia,Alejandrina
通讯作者：
Cristia,Alejandrina

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