Autism in Young Children:Restricted/Repetitive Behaviors

受限和重复的行为和兴趣(RRB)是自闭症的一个定义特征。尽管这对临床诊断是必不可少的，但相对于自闭症的社交和沟通问题，这一组行为的研究还很少。具体地说，人们对RRBs的发展、进程和独特性的了解有限。本项目的目标是检查患有自闭症或自闭症谱系障碍(ASD)的幼儿(2岁和3岁)的RRBs。RRB包括一组不同的行为，如重复的运动动作、仪式、例行公事和强迫。RRB的存在和质量已被证明对适应性和社会功能都有不利影响，还可以预测自闭症症状的严重程度。 描述RRBs的发展过程将允许检查它们对自闭症患者的社会和交流结果的直接影响。这与个体化治疗以及根据症状群建立亚组直接相关。之前对自闭症患者的RRB研究已经研究了年龄较大的人或有严重认知障碍的人，但没有研究患有自闭症和一系列认知功能的年幼儿童。然而，从对患有唐氏综合症等发育障碍的幼儿的研究中可以清楚地看到，RRBs出现的时间要早得多，应该在2至3岁的时期进行研究。这项研究将阐明自闭症与典型发育和发育障碍的RRBs的发展方面。 这项对比的纵向研究将记录RRBs的早期发展以及这些行为在三组幼儿中的不同：1)2至3岁的自闭症/自闭症儿童；2)2至3岁的发育障碍(DD)儿童；以及3)典型发育儿童(TD)。DD组和TD组都将在精神年龄的基础上与自闭症/ASD组匹配。所有儿童都将接受一系列综合措施的评估，以评估RRBs的发生、频率和强度以及社交、交流和行为功能。这是第一项使用多种方法检查患有自闭症或自闭症的幼儿的RRBs的研究(直接 观察和举报人报告)。目前的研究将(1)记录患有自闭症和非自闭症的幼儿的RRB的过程和发展轨迹；(2)检查RRB与自闭症的社会交流结果的关系；(3)基于共生、随时间的模式和强度，构建可能构成自闭症重要亚型的RRB分组；以及(4)使用RRB作为该数据集中表型分层的基础，以确定与RRB和/或自闭症相关的基因。

Restricted and repetitive behaviors and interests (RRBs) are a defining characteristic of autism. While essential to clinical diagnosis, this group of behaviors is woefully understudied relative to social and communication problems in autism. Specifically, there is limited understanding of the development, course, and uniqueness of RRBs. The objective of this project is to examine RRBs in young children (ages 2 and 3 years of age) with autism or autism spectrum disorder (ASD). RRBs comprise a diverse set of behaviors such as repetitive motor actions, rituals, routines, and compulsions. The presence and quality of RRBs have been shown to adversely affect both adaptive and social functioning and also predict severity of autism symptoms. Characterizing the developmental course of RRBs will allow for examination of their direct impact on social and communication outcomes in autism. This is directly relevant to individualizing treatment as well as constructing subgroups based on clusters of symptoms. Prior investigations of RRBs in autism have studied older individuals or those with severe cognitive impairments, but not young children with autism and a range of cognitive functioning. However, it is clear from studies of young children with developmental disabilities such as Down syndrome that RRBs emerge much earlier and should be investigated in this 2- to 3-year old age period. This study will elucidate the developmental aspects of RRBs in autism versus typical development and developmental disabilities. This comparative, longitudinal study will document the early development of RRBs and how these behaviors differ in three groups of young children: 1) children with autism/ASD between 2 and 3 years of age; 2) children with developmental disabilities (DD) between 2 and 3 years of age, and 3) typically developing children (TD). Both DD and TD groups will be matched to the autism/ASD groups on the basis of mental age. All children will be serially evaluated with a comprehensive battery of measures to assess the occurrence, frequency, and intensity of RRBs as well as social, communicative, and behavioral functioning. This is the first study to examine RRBs in young children with autism or ASD using multiple methods (direct observation and informant report). The current study will (1) document the course and developmental trajectory of RRBs in young children with autism vs. non-autism; (2) examine the relationship of RRBs to social-communicative outcomes in autism; (3) construct groupings of RRBs that may constitute significant subtypes in autism based on co-occurrence, patterns over time, and intensity and (4) use RRBs as the basis for phenotypic stratification in this data set to identify genes associated with RRBs and/or autism.