Early Social and Emotional Development in Toddlers at Genetic Risk for Autism

描述（由申请人提供）：自闭症是一种严重的遗传性神经发育障碍，影响儿童在社会，情感和认知领域的功能。早期诊断和干预可能会改善一些儿童的问题，但自闭症在3岁之前很难诊断。这是因为早期症状往往很微妙;在典型的儿童中，发展往往是不平衡的;轻度障碍和特定的语言延迟也可能与儿童早期自闭症混淆。 对自闭症儿童的弟弟妹妹进行的前瞻性研究有希望，因为他们患自闭症或自闭症谱系（ASD）的遗传风险较高，复发率高达20%。自闭症儿童的弟弟妹妹（高风险）和年龄/性别匹配的典型发育儿童的弟弟妹妹（低风险）目前正在研究作为皮特早期自闭症研究的一部分。1）确定高风险和低风险幼儿在社会情感发展方面的差异，重点关注18-36个月典型发展的几个基本方面，这些方面也被认为是患有自闭症的学龄前儿童的受损，并且特别可能在表现出非典型发展的高风险幼儿中受到破坏; 2）描绘社会情感发展的纵向轨迹，在36个月内接受自闭症诊断的高危幼儿和那些表现出轻度ASD症状或语言延迟的幼儿中，与没有明显问题的高危幼儿和低风险幼儿相比; 3）检查有和没有后来诊断的高危儿童和低风险儿童的社会情感，认知，沟通和注意力发展的概况。早期的社会情感互惠与主要照顾者，移情的出现，假装游戏和自我-他人的代表性，行为和负面情绪的调节，幼儿期的突出发展任务的发展，将进行评估。横断面和纵向分析将描述组间差异以及典型和非典型发展的轨迹，作为36个月诊断的函数。研究结果对自闭症儿童的早期识别和治疗具有重要意义，并将有助于自闭症，ASD和语言延迟的鉴别诊断，与典型但不均衡的发展不同。 公共卫生相关性：社会互惠、同理心和假装游戏是幼儿时期的主要成就，但在自闭症幼儿中受损或缺失。这项从婴儿期开始的前瞻性纵向研究将研究具有自闭症诊断的哥哥姐姐的高风险幼儿的早期社会和情感发展，并将其与22，28和34个月时具有典型发展的哥哥姐姐的幼儿进行比较。这项工作将有助于自闭症儿童的早期识别和早期干预，也有助于区分自闭症的早期社会标志与其他发育迟缓和典型但不均衡的发展。

DESCRIPTION (provided by applicant): Autism is a serious, heritable neurodevelopmental disorder that affects children's functioning in social, emotional, and cognitive domains. Early diagnosis and intervention may ameliorate problems in some children, but autism is difficult to diagnose before age 3. This is because early signs are often subtle; in typical children, development is often uneven; and milder disorders and specific language delays also may be confused with autism in early childhood. Prospective studies of younger siblings of children with an autism diagnosis hold promise, given their higher genetic risk to develop autism or a milder disorder on the autism spectrum (ASD), with recurrence rates as high as 20%. Younger siblings of children with autism (high risk) and age/sex-matched younger siblings of typically developing children (low risk) are currently being studied as part of the Pitt Early Autism Study. The aim of this proposal is to: 1) identify differences between high and low risk toddlers in social-emotional development, focusing on several fundamental aspects of typical development across 18-36 months, that are also known to be impaired in preschool age children with an autism diagnosis, and are especially likely to be disrupted in high risk toddlers who show atypical development; 2) delineate longitudinal trajectories of social-emotional development in high risk toddlers who receive a diagnosis of autism by 36 months and in those who show milder ASD symptoms or language delays, in comparison to high risk toddlers who develop without evident problems and to low risk toddlers; 3) examine profiles of social-emotional, cognitive, communicative, and attentional development in high risk children with and without a later diagnosis and in low risk children. Early social-emotional reciprocity with primary caregivers, the emergence of empathy, the development of pretend play and self-other representation, and the regulation of behavior and negative emotion, salient developmental tasks of toddlerhood, will be assessed. Cross- sectional and longitudinal analyses will delineate group differences and trajectories of typical and atypical development as a function of diagnosis at 36 months. Findings have implications for the early identification and treatment of children with autism and will contribute to differential diagnosis of autism, ASD, and language delay as distinct from typical, but uneven development. PUBLIC HEALTH RELEVANCE: Social reciprocity, empathy, and pretend play are major achievements of toddlerhood, but are impaired or absent in young children with autism. This prospective longitudinal study, which began in infancy, will examine early social and emotional development in high risk toddlers who have an older sibling with an autism diagnosis and compare them to toddlers with a typically developing older sibling at 22, 28, and 34 months. This work will contribute to early identification and early intervention for children with autism, and also help to differentiate early social markers of autism from those of other developmental delays and typical, but uneven, development.