机器学习在自闭症儿童早期识别和诊断领域的应用

早发现、早诊断、早干预是开展自闭症儿童教育康复工作的共识, 但传统识别和诊断方法局限及专业人员缺乏常导致自闭症儿童错失最佳干预期。为改善现状, 近年来机器学习凭借其客观准确、简便灵活等方面的优势, 逐渐被应用到自闭症的早期预测、筛查、诊断和评估过程管理中, 积累了较为丰富的成果。但是机器学习也在研究对象选取、分类数据采集和理论模型应用等方面存在局限性。未来研究应推动构建孕产期和新生儿病理生理信息追踪数据库和标准化模型分类指标体系, 同时继续优化算法, 加快智能化自闭症识别和诊断理论成果向实践转化。     

新生儿对语音的感知、辨别和学习

新生儿自娩出起便开始利用臻于成熟的听觉系统对语音的各要素进行大脑表征和学习记忆。考察新生儿语音加工特点,不仅能揭示语言功能在人类发展最初阶段的认知神经机制,还能对自闭症等神经发育性疾病的早期预警和临床诊断提供有价值的线索。我们回顾并总结了新生儿对语音的感知、辨别和学习以及语言发展对自闭症的预测作用,发现新生儿对特定语音存在感知偏好;新生儿具备独特的音素辨别能力;婴儿期语言加工的脑功能或结构指标对自闭症具有一定的预测价值。我们建议未来研究从三个方面开展工作。在基础研究方面：第一,严格控制语音材料的韵律因素,重新审查新生儿语言加工特征及大脑偏侧化问题;第二,揭示新生儿语音学习的认知神经机制以及睡眠的记忆巩固作用。在临床转化研究方面,以高风险自闭症新生儿为追踪对象,基于纵向多模态脑观测数据,建立疾病风险评估系统,揭示出生早期语言发展脑指标对自闭症的预测价值。     

自闭症谱系障碍的早期筛查工具

基于35项实证研究, 遵循诊断准确性研究的质量评估(QUADAS-2)的循证程序对自闭症谱系早期预警特征筛查工具开展质量评估, 包括婴儿阶段(10个筛查工具, 159388人)、幼儿阶段(14项筛查工具, 11712人), 旨在为自闭症谱系风险的早期识别提供全面的理解。结果表明：幼儿阶段的筛查工具的分类准确性要高于婴儿阶段, 在婴儿阶段达到良好水平的筛查工具有M-CHAT-R/F、PDQ-1; 在幼儿阶段达到优秀水平的筛查工具有OERA、TIDOS。其中, “改良的幼儿自闭症检查表-有修订的后续随访” (M-CHAT-R/F)是目前最具潜力的自闭症谱系风险筛查工具之一。最后, 我们探讨了应用QUADAS-2评估研究质量的局限性, 强调需要规范工具的质量评估标准与进一步验证研究的必要性。     

fNIRS在自闭症脑功能研究中的应用与展望

社会交往能力是人类生存的基本技能。社交能力的缺失会导致严重的行为障碍和精神疾病,如自闭症。由于自闭症儿童的特殊性,绝大多数的自闭症脑成像研究多集中在年龄较大的高功能自闭症儿童在静息态或简单的任务态下的脑激活模式或功能连接状态。自闭症的核心症状—社会交往障碍和语言交流障碍却较少有研究触及。近年来,近红外光学脑功能成像技术的发展为我们在真实的交流和互动中研究自闭症儿童的神经病理机制提供了新的工具和机遇。     

封闭世界中的孩子——儿童自闭症的分析与治疗

Kanner教授于1943年最先报道了关于儿童自闭症的详细研究,自闭症作为一种症侯群,其具体症状因人而异。社会交往障碍、语言发育障碍、刻板的行为方式是自闭症的三个主要障碍。本文从儿童自闭症的表现特征、原因、治疗等方面入手,详细阐述了这一发生在婴幼儿时期的发展障碍及其治疗方法,为自闭症儿童的早期发现、训练和矫治提供参考。     

空白重叠范式对自闭症儿童的早期预测

摘 要 空白重叠范式是研究视觉注意特征常用的实验范式。自闭症儿童普遍存在注意解离缺陷,空白重叠范式揭示出该群体注意解离存在异常。国外开始重视将该范式用于自闭症的预测,而我国在这方面的研究很少。本文对空白重叠范式的操作程序、基本原理和数据分析等内容进行了系统地介绍,并就空白重叠范式在自闭症婴幼儿预测中的作用、使用时需注意的方法论等问题进行了展望,以期促进空白重叠范式在我国自闭症早期预测中的运用。     

自闭症儿童话语多模态个案研究

以多模态理论为基础,从语言、非语言及其跨通道性等方面比较正常男童和两个自闭症男童叙事语言。叙事中,他们讲述一个无字书《青蛙,你在哪里?》的故事并录像。分析多模态语料发现,高功能自闭症儿童和正常儿童的叙事字数、句数,代词、语气词、心理词汇的数量和概念错误数没有显著差别,中度自闭症患儿在这些方面显著不及高功能自闭症儿童。非语言及跨通道方面,高功能自闭症儿童比中等程度患儿表现要好,中等自闭症儿童无法集中注意力,无法独自完成述说故事。针对他们的多模态特征,提出了康复建议。     

自闭症研究在认知发展领域的新进展

１关于自闭症的界定１．１什么是自闭症儿童的智力发展和身体发育可能会在许多发面出现不正常,形成多种儿童发展障碍,引起行为异常。自闭症是儿童全面发展障碍的一种,又称儿童孤独症。它是起病于儿童早期的一种严重的精神疾患。首先认识到这种障碍,并把它视作一个群体以单独命名的是美国儿童精神科教授Ｋａｎｎｅｒ。他于１９４３年描述并报道了１１名行为异常、社会性退缩的儿童,认为他们是“从生命一开始就表现出与人交流的障碍”。这些儿童在婴幼儿时期表现出明显的仪式性、刻板行为;社会交往障碍;言语发展障碍,这典型的三种症状…     

抑郁症的脑结构与功能异常:来自静息态下多模态脑影像的研究证据

传统单一模态、单一分析方法在揭示抑郁症脑机制上存在较多局限;而新近多种模态、多种分析方法的结合可在一定程度上较好地促进对抑郁症脑功能和结构的全面探索、挖掘,可以更加有效地运用和实施于早期辅助诊断、干预治疗当中。因此,本文首先简要介绍了多种模态下的脑影像指标及其分析技术,而后分别从结构及功能神经影像数据融合等方面,概述了抑郁症脑结构和功能的研究现状,发现抑郁症患者存在诸多脑区及相关环路结构及功能的异常。同时,通过对抑郁症多模态研究现状的梳理和总结,结合我们已有的相关前期研究工作,对未来抑郁症等情感障碍的进一步研究工作提出了一些思考和展望。     

自闭症儿童能否痊愈?——来自谱系个体“最佳结果”及剩余缺陷研究的证据分析

自闭症谱系障碍预后效果不佳, 通常被认为是一种伴随终生的疾病。不过随着研究的拓展和深入, 部分早期被诊断为自闭症的儿童, 随着年龄增长和相关干预措施的介入, 其认知、适应性等方面均可达到正常发展水平, 并且不再符合自闭症的诊断标准, 即达到了“最佳结果”。但多数个体仍然存在不同程度的剩余缺陷。本文以自闭症预后结果评定和“最佳结果”定义演变为切入点, 分析“最佳结果”个体剩余缺陷的具体表现, 并梳理此类群体的个体特征与结果预测因素, 以期能为自闭症个体的系统干预提供有效依据。     

The associations between autistic and communication traits in parents and developmental outcomes in children at familial risk of autism at 6 and 24 months of age

BackgroundSeveral studies have explored relationships between parent broader autism phenotype and offspring communication, and have reported that autistic-like traits in parents are related to offspring communication difficulties and autism severity. However, past research has focused on studying such associations in childhood and we know very little about them in infancy. With accumulating evidence that interventions administered during infancy may be most effective in reducing ASD symptoms, it is imperative to examine whether relationships between parent autistic-like traits and child communication appear even earlier during this critical period of life.MethodThis longitudinal study collected data from infant siblings of autistic children (N = 32) and infants with no family history of autism (N = 45) to explore how autistic-like traits in parents related to child developmental outcomes during infancy.ResultsParental communication difficulties and autistic-like traits were found to be associated with a range of child behaviours in the first two years of life, including social-emotional difficulties at 6 and 24 months, lower communication and emerging cognition at 24 months, and increased autistic behaviours at 24 months.ConclusionsBased on the results, it appears that some of the difficulties seen in parents are relayed to children genetically. These findings contribute to ASD research concerning early communication development in children and heritability of ASD traits and may have important implications in monitoring child development. Furthermore, since the current study found a significant association between autistic traits in parents and child social-emotional behaviour as early as 6 months of age, it provides evidence of the value of assessing interventions that target infancy.     

孤独症碎镜理论述评

孤独症是泛指一大类在社会交往、沟通方面存在功能缺陷的疾病, 至今病因尚未阐明。“碎镜理论”作为孤独症研究领域的新兴理论, 在神经—认知层面较先前理论更为全面地解释了孤独症的各种临床行为表现, 并为这些异常行为间的相互关系提供了一种统一性的研究视角。文章首先对镜像神经元的发现进行了简介, 在此基础上对碎镜理论的由来及其与孤独症相关功能(包括动作识别与模仿、心理理论、共情以及语言理解)缺陷的关系进行了综述, 最后通过区分主动模仿和自动模仿, 就镜像神经元系统及其调控系统与孤独症关系中存在的问题进行了反思与展望。     

‘An Association for All’—Notions of the Meaning of Autistic Self‐Advocacy Politics within a Parent‐Dominated Autistic Movement

In this paper, we seek to explore the tensions between advocacy and self advocacy autistic movements in a Swedish context with a special focus on the meanings that enable the production of particular understandings of autism and the autistic subject. Drawing on articles written for the Swedish advocacy magazine Empowerment written for and by people with autism, the discourse analysis explores two competing discourses: a reformist and a radical. The reformist discourse underlines a goal of (political) representation expressed in Empowerment. It may be understood as an important part of producing a legitimate autistic political subject–positioned as a full member, with a full membership–within a parent‐dominated autistic advocacy movement. The reformist discourse can be viewed as a result of a negotiation, where full membership is conditioned on the parents' terms and granted on specific terms. These include working together (neuro‐inclusively), advocacy based on interest rather than identity/position as a specific target/member group, agreement upon a definition of autism as a disability (a deficit) a person has rather than an identity. In relation to this, an alternative legitimate autistic subject is produced through invoking the counter‐hegemonic radical discourse. Such a narrative produces the ‘Asperger’ or ‘Aspie’. Here, the ‘full membership’ refers to a sense of identification with sense of belonging to and being at home with other people with autism. It contains a certain amount of autistic solidarity within the group of adults with autism. Copyright © 2014 John Wiley & Sons, Ltd.     

关于儿童自闭症行为矫治法的几个理论问题

了解儿童自闭症行为矫治法有助于提高自闭症治疗的质量和效果。本文讨论了有关儿童自闭症行为矫治法的几个理论问题。作者还介绍分析了中外自闭症文献中记载的儿童自闭症行为矫治法的临床实验及其治疗效果。     

自闭症儿童行为评定与社会认知发展的研究

本研究用自闭症儿童发展评定量表,自闭症儿童基本社会认知问卷以及“ＴｏＭ”实验,对４９名自闭症儿童及３０名弱智儿童进行了行为评定与社会认知的研究。研究结果为目前国内自闭症的诊断和治疗提供了新的有效工具及进一步明确化的理论依据,并为其教育训练提供了标准的新的启示。     

Neural dynamics of autistic behaviors: cognitive, emotional, and timing substrates

What brain mechanisms underlie autism, and how do they give rise to autistic behavioral symptoms? This article describes a neural model, called the Imbalanced Spectrally Timed Adaptive Resonance Theory (iSTART) model, that proposes how cognitive, emotional, timing, and motor processes that involve brain regions such as the prefrontal and temporal cortex, amygdala, hippocampus, and cerebellum may interact to create and perpetuate autistic symptoms. These model processes were originally developed to explain data concerning how the brain controls normal behaviors. The iSTART model shows how autistic behavioral symptoms may arise from prescribed breakdowns in these brain processes, notably a combination of underaroused emotional depression in the amygdala and related affective brain regions, learning of hyperspecific recognition categories in the temporal and prefrontal cortices, and breakdowns of adaptively timed attentional and motor circuits in the hippocampal system and cerebellum. The model clarifies how malfunctions in a subset of these mechanisms can, through a systemwide vicious circle of environmentally mediated feedback, cause and maintain problems with them all.     

A Conceptual Toolkit for Intensive Early Behavioral Intervention Teachers

Intensive early behavioral intervention (IEBI) for children with autism requires effective team work involving professional therapists, parents, teachers and others. It is important for all team members to employ a common conceptual and procedural vocabulary so that communication among them is clear, unambiguous, and effective. This article outlines the rationale of a small and practical vocabulary or conceptual toolkit that we have found useful in working with teachers and families in designing, implementing, and analyzing the details of behavioral programs to help autistic children learn to speak and understand language. Special attention is given to a heuristic device called the language matrix. Illustrative data describing the course of generative language acquisition by a child with autism taught according to the language matrix approach are included.