Child Development Disorders, Pervasive

儿童发育障碍,Pervasive
  • 文章类型: Meta-Analysis
    目的:探讨学校对自闭症及相关沟通障碍儿童的治疗和教育(TEACCH)干预对改善自闭症谱系障碍(ASD)儿童的独立任务表现的有效性。
    方法:我们筛选了截至2022年12月发表于Webofscience的相关研究,ERIC,PsycINFO和其他数据库使用预定义的纳入/排除标准,以确定合适的干预研究进行荟萃分析。计算从所包括的实验中提取的每个A-B比较的Tau-U效应大小。进行了适度的分析,以检查干预的类型(自变量),干预目标行为(因变量),参与者特征,设定特征和干预者特征。
    结果:共有14项研究(38名参与者)符合标准并纳入荟萃分析。分析结果表明,TEACCH具有显著的干预效果,总体干预效果为Tau-U=0.85[0.77,0.91]。干预目标行为变量存在显著差异(p<0.01),干预类型变量的有限变化,但参与者特征没有差异,设定特征和干预特征。
    结论:使用TEACCH可有效改善ASD儿童的独立任务完成情况,并为其在学校中的扩展使用提供了基于证据的建议。
    To investigate the effectiveness of a Treatment and Education of Autistic and Related Communication Handicapped Children (TEACCH) intervention in schools for improving independent task performance in children with autism spectrum disorders (ASD).
    We screened relevant studies published up to December 2022 from Web of science, ERIC, PsycINFO and other databases using predefined inclusion/exclusion criteria to identify suitable intervention studies for meta-analysis. Tau-U effect sizes were calculated for each A-B comparison extracted from the included experiments. Moderated analyses were conducted to examine the type of intervention (independent variable), intervention target behaviours (dependent variable), participant characteristics, setting characteristics and intervener characteristics.
    A total of 14 studies (38 participants) met the criteria and were included in the meta-analysis. The analysis results showed that TEACCH had a significant intervention effect, and the overall intervention effect size was Tau-U = 0.85[0.77, 0.91]. There were significant differences in the intervention target behaviour variables (p < 0.01), limited variation in the intervention type variables, but no differences in participant characteristics, setting characteristics and intervenor characteristics.
    The use of TEACCH is effective in improving independent task completion in children with ASD and provides evidence-based recommendations for its extended use in schools.
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  • 文章类型: Journal Article
    基于心智失明假说,大量研究表明,患有自闭症谱系障碍(ASD)和自闭症特征的个体存在同理心缺陷。然而,最近的双重移情理论与心智失明假说相矛盾,并表明具有ASD和自闭症特征的个体不一定缺乏移情.因此,在具有ASD和自闭症特征的个体中存在移情缺陷仍然存在争议。我们招募了56名青少年(28名高自闭症特征,28个低自闭症特征,14-17岁)在这项研究中探讨了同理心与自闭症特征之间的关系。研究参与者被要求承担疼痛移情任务,在此期间记录脑电图(EEG)活动。我们的结果表明,在问卷中,同理心与自闭症特征呈负相关,行为,和脑电图水平。我们的结果还表明,具有自闭症特征的青少年的移情缺陷可能主要表现在认知控制过程的后期。
    Based on the mind-blindness hypothesis, a large number of studies have shown that individuals with autism-spectrum disorder (ASD) and autistic traits have empathy deficits. However, the recent double empathy theory contradicts the mind-blindness hypothesis and suggests that individuals with ASD and autistic traits do not necessarily lack empathy. Thus, the presence of empathy deficits in individuals with ASD and autistic traits is still controversial. We recruited 56 adolescents (28 high autistic traits, 28 low autistic traits, 14-17 years old) in this study to explore the relationship between empathy and autistic traits. The study participants were required to undertake the pain empathy task, during which the electroencephalograph (EEG) activities were recorded. Our results show that empathy was negatively associated with autistic traits at the questionnaire, behavioral, and EEG levels. Our results also suggested that empathy deficits in adolescents with autistic traits may be manifested mainly in the late stages of cognitive control processing.
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  • 文章类型: Journal Article
    这项研究调查了自闭症儿童语言技能的异质性及其与不同自闭症社会亚型的关系。分析了90名自闭症儿童和30名典型发育儿童的数据。结果表明,自闭症的社会亚型在语言技能问题上有所不同(超然>被动>主动但奇怪)。超常维度得分与语言表现之间存在负相关,但主动但奇数维度为正,而被动维度则没有关联。此外,超维分数是语言表现的主要贡献者。接收者操作特征分析建议语言词汇作为区分自闭症社会亚型的附加组成部分。这些发现表明,自闭症儿童的语言技能差异为区分其社交亚型提供了更多信息。
    This study investigated heterogeneity in language skills of children with autism and their relationship with different autistic social subtypes. Data from 90 autistic and 30 typically developing children were analyzed. Results showed that autistic social subtypes varied in language skill problems (aloof > passive > active-but-odd). There was a negative association between aloof dimension scores and language performance but positive for the active-but-odd dimension and no association in the passive one. Moreover, aloof dimension score was the main contributor to language performance. A receiver operating characteristic analysis suggested language vocabulary as an additional component in differentiating autistic social subtypes. These findings demonstrate that variations in language skills in autistic children provide additional information for discriminating their social subtype.
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  • 文章类型: Journal Article
    自闭症谱系障碍(ASD)是神经行为和发育状况最复杂的群体之一。原因是存在三个不同的受损域,比如社交互动,通信,和限制重复行为。一些患有ASD的儿童可能无法使用语言或语音进行交流。许多专家建议,在该领域以软件培训的形式继续进行治疗可能有助于改善。在这项工作中,我们提出了一种用于ASD的软件语音治疗系统的设计。我们组合了不同的设备,技术,以及家庭康复技术的特点。我们使用TensorFlow进行图像分类,ArKitforText-to-Speech,云数据库,二进制搜索,自然语言处理,句子的数据集,和图像数据集,具有两种不同的操作系统,专为日常生活中的智能移动设备而设计。该软件是不同深度学习技术的组合,使人机交互疗法非常容易进行。此外,我们解释了这些联系和合作的方式。此外,我们详细解释了软件架构以及每个组件如何作为集成治疗系统一起工作。最后,它允许ASD患者随时随地进行治疗,以及向医学专家传递信息。
    Autistic spectrum disorder (ASD) is one of the most complex groups of neurobehavioral and developmental conditions. The reason is the presence of three different impaired domains, such as social interaction, communication, and restricted repetitive behaviors. Some children with ASD may not be able to communicate using language or speech. Many experts propose that continued therapy in the form of software training in this area might help to bring improvement. In this work, we propose a design of software speech therapy system for ASD. We combined different devices, technologies, and features with techniques of home rehabilitation. We used TensorFlow for Image Classification, ArKit for Text-to-Speech, Cloud Database, Binary Search, Natural Language Processing, Dataset of Sentences, and Dataset of Images with two different Operating Systems designed for Smart Mobile devices in daily life. This software is a combination of different Deep Learning Technologies and makes Human-Computer Interaction Therapy very easy to conduct. In addition, we explain the way these were connected and put to work together. Additionally, we explain in detail the architecture of software and how each component works together as an integrated Therapy System. Finally, it allows the patient with ASD to perform the therapy anytime and everywhere, as well as transmitting information to a medical specialist.
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  • 文章类型: Journal Article
    尽管有大量的研究和临床证据表明音乐干预对自闭症患者的有效性,在这个社区对音乐处理的理解是有限的。我们探讨了自闭症社区内音乐处理差异的研究证据是否可用。我们进行了范围审查,以搜索带有“音乐”一词的文献,“处理,\"和\"自闭症\"(和变体)。我们搜索了PubMed,CINAHL,Scopus,WebofScience,PsycInfo,学术搜索完成,ERIC,和音乐索引数据库共10,857篇文章,有5,236个重复。其余5,621个标题和摘要由四名本科生和研究生以及PI组成的团队进行了资格筛选。纳入75项研究进行数据提取。对数据进行了描述性统计分析,study,刺激,和参与者信息,以及对结果和发现的主题分析。鉴于文献的新兴性质,我们的发现是初步的,主要使用非音乐听觉刺激,被动聆听体验,和低估的人口统计。然而,文献显示了自闭症患者在音乐处理方面存在差异的一些证据,包括减少对非音乐和音乐刺激的习惯;截断,延迟,或不同的发育轨迹;以及可能的补偿性高阶机制,即使在存在不同的神经相关因素的情况下也能产生相似的行为反应。鼓励音乐治疗师采取发展的观点,不仅是一般技能,但特别是这个社区的音乐技能发展,为了谨慎地推断这些发现,鉴于目前证据的局限性。
    Despite abundant research and clinical evidence of the effectiveness of music interventions for people in the autism spectrum, understanding of music processing in this community is limited. We explored whether research evidence of differences in music processing within the autistic community is available. We developed a scoping review to search for literature with the terms \"music\", \"processing,\" and \"autism\" (and variants). We searched PubMed, CINAHL, Scopus, Web of Science, PsycInfo, Academic Search Complete, ERIC, and Music Index databases for a total of 10,857 articles, with 5,236 duplicates. The remaining 5,621 titles and abstracts were screened for eligibility by a team of four undergraduate and graduate students and the PI. Seventy-five studies were included for data extraction. Data were analyzed with descriptive statistics regarding author, study, stimulus, and participant information, and a thematic analysis of outcome and findings. Our findings are preliminary given the emerging nature of the literature, the use of mostly non-musical auditory stimuli, passive listening experiences, and underreported demographics. However, the literature shows some evidence of differences in music processing for autistic individuals, including reduced habituation to non-musical and musical stimuli; truncated, delayed, or divergent developmental trajectories; and possible compensatory higher-order mechanisms that yield similar behavioral responses even in the presence of divergent neural correlates. Music therapists are encouraged to adopt a developmental perspective, not only of general skills, but specifically of music skill development in this community, and to extrapolate these findings with caution, given the current limitations in the evidence.
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  • 文章类型: Comparative Study
    The fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) controversially combined previously distinct subcategories of autism spectrum disorder (ASD) into a single diagnostic category. However, genetic convergences and divergences between different ASD subcategories are unclear. By retrieving 1725 exonic de novo mutations (DNMs) from 1628 subjects with autistic disorder (AD), 1873 from 1564 subjects with pervasive developmental disorder not otherwise specified (PDD-NOS), 276 from 247 subjects with Asperger\'s syndrome (AS), and 2077 from 2299 controls, we found that rates of putative functional DNMs (loss-of-function, predicted deleterious missense, and frameshift) in all three subcategories were significantly higher than those in control. We then investigated the convergences and divergences of the three ASD subcategories based on four genetic aspects: whether any two ASD subcategories (1) shared significantly more genes with functional DNMs, (2) exhibited similar spatio-temporal expression patterns, (3) shared significantly more candidate genes, and (4) shared some ASD-associated functional pathways. It is revealed that AD and PDD-NOS were broadly convergent in terms of all four genetic aspects, suggesting these two ASD subcategories may be genetically combined. AS was divergent to AD and PDD-NOS for aspects of functional DNMs and expression patterns, whereas AS and AD/PDD-NOS were convergent for aspects of candidate genes and functional pathways. Our results indicated that the three ASD subcategories present more genetic convergences than divergences, favouring DSM-5\'s new classification. This study suggests that specifically defined genotypes and their corresponding phenotypes should be integrated analyzed for precise diagnosis of complex disorders, such as ASD.
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  • 文章类型: Journal Article
    这项研究的目的是调查结构化的体育锻炼计划对自闭症谱系障碍(ASD)儿童的社交互动和沟通的影响。来自一所特殊学校的50名ASD儿童随机分为实验组和对照组。将25例ASD患儿置于实验组,另外25名儿童作为对照组参加定期的体育锻炼。共有41名参与者完成了研究。实施了为期12周的结构化体育活动计划,总共进行了24次锻炼,目标是ASD儿童的社交互动和交流。本研究采用准实验设计。使用定量和定性仪器收集数据。SSIS和ABLLS-R结果表明,在中期和后期测试中,实验组的社交技能和社交互动得到了整体改善,F=8.425,p=0.001(p<0.005),在沟通方面出现了显著的改善,合作,社交互动,和自我控制子域(p<0.005)。相反,对照组差异无统计学意义(p>0.005)。该研究得出的结论是,特殊的结构化身体活动计划积极影响ASD儿童的社交互动和沟通技巧,尤其是在社交技能方面,通信,迅速响应,表达的频率。
    The purpose of this study was to investigate the effects of structured physical activity program on social interaction and communication of children with autism spectrum disorder (ASD). Fifty children with ASD from a special school were randomly divided into experimental and control groups. 25 children with ASD were placed in the experimental group, and the other 25 children as the control group participated in regular physical activity. A total of forty-one participants completed the study. A 12-week structured physical activity program was implemented with a total of 24 exercise sessions targeting social interaction and communication of children with ASD, and a quasi-experimental design was used for this study. Data were collected using quantitative and qualitative instruments. SSIS and ABLLS-R results showed that an overall improvement in social skills and social interaction for the experimental group across interim and posttests, F = 8.425, p = 0.001 (p < 0.005), and significant improvements appeared in communication, cooperation, social interaction, and self-control subdomains (p < 0.005). Conversely, no statistically significant differences were found in the control group (p > 0.005). The study concluded that the special structured physical activity program positively influenced social interaction and communication skills of children with ASD, especially in social skills, communication, prompt response, and frequency of expression.
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  • 文章类型: Journal Article
    Accumulating evidence suggests that brain-derived neurotrophic factor (BDNF) may be implicated in the developmental outcomes of children with autism spectrum disorder (ASD).
    To use meta-analysis to determine whether children with ASD have altered peripheral blood levels of BDNF.
    A systematic search of PubMed, PsycINFO, and Web of Science was performed for English-language literature through February 7, 2016. The search terms included brain-derived neurotrophic factor or BDNF in combination with autism, without year restriction. Two additional records were retrieved after a review of the reference lists of selected articles.
    Studies were included if they provided data on peripheral blood levels of BDNF in children with ASD and healthy control children. Studies that included adults or with overlapping samples were excluded.
    Data were extracted by 2 independent observers from 19 included studies. Data were pooled using a random-effects model with Comprehensive Meta-analysis software.
    Blood levels of BDNF in children with ASD compared with healthy controls. Altered levels of BDNF were hypothesized to be related to ASD.
    This meta-analysis included 19 studies with 2896 unique participants. Random-effects meta-analysis of all 19 studies showed that children with ASD had significantly increased peripheral blood levels of BDNF compared with healthy controls (Hedges g, 0.490; 95% CI, 0.185-0.794; P = .002). Subgroup analyses in 4 studies revealed that neonates diagnosed with ASD later in life had no association with blood levels of BDNF (Hedges g, 0.384; 95% CI, -0.244 to 1.011; P = .23), whereas children in the nonneonate ASD group (15 studies) demonstrated significantly increased BDNF levels compared with healthy controls (Hedges g, 0.524; 95% CI, 0.206 to 0.842; P = .001). Further analysis showed that children in the nonneonate ASD group had increased BDNF levels in serum (10 studies) (Hedges g, 0.564; 95% CI, 0.168 to 0.960; P = .005) but not in plasma (5 studies) (Hedges g, 0.436; 95% CI, -0.176 to 1.048; P = .16). Meta-regression analyses revealed that sample size had a moderating effect on the outcome of the meta-analysis in the nonneonate group. In addition, no publication bias was found in the meta-analysis.
    Children with ASD have increased peripheral blood levels of BDNF, strengthening the clinical evidence of an abnormal neurotrophic factor profile in this population.
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  • 文章类型: Journal Article
    Autism spectrum disorders (ASDs) are common neurodevelopmental disorders characterized by impaired social communication, restricted and repetitive behavior or interests. Over the past 40 years, the reported prevalence for ASDs has been steadily rising world-wide. Due to the application of large-scale exome sequencing in recent years, hundreds of novel ASD associated genes have been identified. These associated genes are enriched in several common genetic signaling pathways such as synapse formation and chromatin remodeling. Intensive studies in animal models have revealed abnormal synaptic plasticity and an imbalanced ratio of excitatory to inhibitory neurotransmission in neural circuits of ASD brains. In this review, we summarize recent advances in (1) genetic heterogeneity of ASDs, (2) molecular pathways disturbed by various genetic mutations in ASDs, and (3) the development of genetic diagnostics and pharmacological treatments for ASDs. This review aims to provide a brief overview of the genetic basis of ASDs and prospects for diagnosis and treatment for ASDs.
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  • 文章类型: Journal Article
    拷贝数变异(CNVs)越来越多地被报道导致,或者倾向于,人类疾病。然而,这些CNV中的很大一部分没有在单碱基对水平上得到准确的表征,从而阻碍了对CNV形成的潜在突变机制的更好理解。这里,采用从各种基于推理的程序中导出的复合管道方法,我们已经鉴定了26个缺失CNVs[包括三个新的致病性CNVs,涉及引起遗传性骨软骨瘤的常染色体基因(EXT2)和引起Dent病的X连锁基因(CLCN5),以及之前通过加拿大自闭症谱系障碍家族队列推断确定的23个CNV]至全基因组测序数据的单碱基对准确性水平。我们发现断点侧翼微突变(在断点的22bp内)存在于缺失CNV的显著部分(5/26;19%)中。此分析还提供了证据,表明最近描述的易于出错的DNA修复形式(即,通过源自基因组遥远区域的模板化核苷酸序列插入修复DNA双链断裂)不仅会导致人类遗传疾病,还会影响人类基因组进化。我们的发现说明了精确的CNV断点描绘对于理解潜在的突变机制的重要性,并对与临床诊断中CNV缺失检测相关的引物设计具有意义。
    Copy number variations (CNVs) have increasingly been reported to cause, or predispose to, human disease. However, a large fraction of these CNVs have not been accurately characterized at the single-base-pair level, thereby hampering a better understanding of the mutational mechanisms underlying CNV formation. Here, employing a composite pipeline method derived from various inference-based programs, we have characterized 26 deletion CNVs [including three novel pathogenic CNVs involving an autosomal gene (EXT2) causing hereditary osteochondromas and an X-linked gene (CLCN5) causing Dent disease, as well as 23 CNVs previously identified by inference from a cohort of Canadian autism spectrum disorder families] to the single-base-pair level of accuracy from whole-genome sequencing data. We found that breakpoint-flanking micro-mutations (within 22 bp of the breakpoint) are present in a significant fraction (5/26; 19%) of the deletion CNVs. This analysis also provided evidence that a recently described error-prone form of DNA repair (i.e., repair of DNA double-strand breaks by templated nucleotide sequence insertions derived from distant regions of the genome) not only causes human genetic disease but also impacts on human genome evolution. Our findings illustrate the importance of precise CNV breakpoint delineation for understanding the underlying mutational mechanisms and have implications for primer design in relation to the detection of deletion CNVs in clinical diagnosis.
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