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、遗传性的神经发育障碍，影响儿童在社交、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，但自闭症很难在3岁之前诊断出来。这是因为早期的迹象往往很微妙；在典型的儿童中，发展往往是不平衡的；轻微的疾病和特定的语言迟缓也可能与儿童早期的自闭症相混淆。对被诊断为自闭症的儿童的弟弟妹妹进行前瞻性研究带来了希望，因为他们患自闭症或自闭症谱系中较轻的疾病（ASD）的遗传风险较高，复发率高达20%。作为皮特早期自闭症研究的一部分，目前正在研究自闭症儿童的弟弟妹妹（高风险）和年龄/性别匹配的正常发育儿童的弟弟妹妹（低风险）。本提案的目的是：1)识别高风险幼儿和低风险幼儿在社交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，这些方面也已知在患有自闭症的学龄前儿童中受到损害，并且在表现出非典型发展的高风险幼儿中尤其可能受到破坏；2)描述在36个月前被诊断为自闭症的高风险幼儿、表现出较轻的ASD症状或语言迟缓的幼儿与无明显问题的高风险幼儿和低风险幼儿的社会情感发展的纵向轨迹；3)检查高风险儿童的社会情感、认知、沟通和注意力发展概况，这些儿童有或没有后来的诊断，以及低风险儿童。幼儿早期与主要照顾者的社会情感互惠，共情的出现，假装游戏和自我-他人表征的发展，以及行为和负面情绪的调节，这些都是幼儿期的突出发展任务。横断面和纵向分析将描述组的差异和典型和非典型发展的轨迹，作为36个月诊断的功能。研究结果对自闭症儿童的早期识别和治疗具有重要意义，并有助于将自闭症、ASD和语言迟缓与典型的不平衡发育区分开来。

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.