权益分类	功能权益	普通用户	{{item.name}}会员
{{category.name}}	{{benefitItem.name}}

Autonomic and Sensory Dysfunctions in FMR1 Conditions: Development, Mechanisms and Consequences

FMR1 条件下的自主神经和感觉功能障碍：发展、机制和后果

基本信息

批准号：
10782119
负责人：
Jane E Roberts
金额：
$ 15.93万
依托单位：
UNIVERSITY OF SOUTH CAROLINA AT COLUMBIA
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：
2022-07-08 至 2027-04-30
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/10782119
关键词：
Acceleration Adaptive Behaviors Address Adult Affect Age Anxiety Arousal Autonomic nervous system Behavior Behavioral Biological CGG repeat Child Data Development Dimensions FMR1 FMR1 Premutation FMRP Female Fragile X Premutation Fragile X Syndrome Functional disorder General Population Genetic Genetic Variation Heart Rate Impairment Individual Infant Inherited Intellectual functioning disability Intervention Knowledge Learning Length Life Link Measures Messenger RNA Molecular Genetics Mutation Outcome Pathway interactions Persons Phenotype Physiological Research Risk Role Sensory Severities Sinus Arrhythmia Symptoms Time Work autism spectrum disorder experience heart function improved indexing infancy interest male prospective reduce symptoms respiratory response sensory stimulus skills social communication social communication impairment

项目摘要

PROJECT SUMMARY/ABSTRACT Despite the impairment in fragile X syndrome (FXS) and the fragile X premutation (FXpm), surprisingly little research has examined the underpinnings of these impairments. One potential factor that contributes to impairment is autonomic nervous system (ANS) dysfunction. Elevated physiological arousal, reflecting ANS dysfunction, has long been implicated as contributing to learning impairments and atypical behavior in FXS. While ANS dysfunction has been linked to impairment in both FXS and FXpm, research has not examined the presence, onset, developmental trajectory, or developmental consequences of ANS dysfunction or how molecular-genetic factors are associated. This project addresses these critical gaps with the following specific aims: (1) Identify the onset and developmental trajectory of baseline ANS dysfunction through prospective longitudinal assessment at 6, 9, 12, and 24 months in FXS (n=30 males) and FXpm (n=30; 15 males and 15 females) contrasted to typical controls (n=45; 30 males and 15 females); (2) Determine how molecular-genetic variation relates to the onset and/or developmental trajectory of ANS dysfunction in FXS and FXpm; (3) Characterize behavioral and ANS reactivity to sensory stimuli through prospective longitudinal assessment at 6, 9, 12, and 24 months in FXS and FXpm; and (4) Document the consequences of ANS dysfunction across infancy on sensory processing impairments, adaptive skills, ASD symptoms, and social communication, concurrently and at 24 months in FXS and FXpm. This work will have tremendous impact by greatly expanding information on the mechanistic underpinnings, biological pathways, and timing of symptom progression, which is essential to identify targets and timing of treatment to reduce symptom severity in FXS and FXpm. Our focus on infancy is critical, as evidence has documented that intervention provided early in life has the potential to accelerate development and improve developmental trajectories over time in a multi-dimensional manner.

项目总结/文摘