Autism Spectrum disorder

自闭症谱系障碍
  • 文章类型: Journal Article
    孤独症谱系障碍(ASD)是一种严重的精神障碍,其发病机制复杂,个体间存在差异。尽管许多深度学习算法已被用于诊断ASD,他们中的大多数专注于单一的数据模式,导致信息提取有限,稳定性差。在本文中,我们提出了一种利用来自多个模态的数据的双线性感知融合(BPF)算法。在我们的算法中,根据功能和结构数据的特点,采用不同的方案进行特征提取。通过双线性运算,捕获每个感兴趣区域(ROI)的功能和结构特征之间的关联。然后,使用关联来集成特征表示。图卷积神经网络(GCN)可以有效地利用脑网络分析中的拓扑和节点特征。因此,我们设计了一个名为BPF-GCN的深度学习框架,并在公开可用的ASD数据集上进行实验。结果表明,BPF-GCN的分类准确率达到82.35%,超越现有方法。这证明了其分类性能的优越性,框架可以提取与ASD相关的ROI。我们的工作为ASD的及时诊断和治疗提供了有价值的参考。
    Autism spectrum disorder (ASD) is a serious mental disorder with a complex pathogenesis mechanism and variable presentation among individuals. Although many deep learning algorithms have been used to diagnose ASD, most of them focus on a single modality of data, resulting in limited information extraction and poor stability. In this paper, we propose a bilinear perceptual fusion (BPF) algorithm that leverages data from multiple modalities. In our algorithm, different schemes are used to extract features according to the characteristics of functional and structural data. Through bilinear operations, the associations between the functional and structural features of each region of interest (ROI) are captured. Then the associations are used to integrate the feature representation. Graph convolutional neural networks (GCNs) can effectively utilize topology and node features in brain network analysis. Therefore, we design a deep learning framework called BPF-GCN and conduct experiments on publicly available ASD dataset. The results show that the classification accuracy of BPF-GCN reached 82.35%, surpassing existing methods. This demonstrates the superiority of its classification performance, and the framework can extract ROIs related to ASD. Our work provides a valuable reference for the timely diagnosis and treatment of ASD.
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  • 文章类型: Journal Article
    利他合作(AC)在人类的社会交往中是必不可少的。先前的研究调查了自闭症谱系障碍(ASD)儿童的AC相关行为,揭示了行为中存在相当大的个体差异。然而,这个问题在很大程度上仍未被探索,特别是在成年人口中。
    为了调查AC相关行为的个体差异,我们在有和没有ASD的成年人中进行了资源分配任务(RAT)和最后通牒游戏(mUG)的修改版本.
    这项研究采用了横截面设计,涉及27名患有ASD的成年人(平均年龄29.1±4.3岁;三名女性)和27名具有典型发育(TD)的成年人(平均年龄25.8±6.7岁;两名女性),完成RAT和mUG任务的人。除了临床特征,我们评估了三个主要的心理指标:人际反应指数(IRI),Barratt冲动量表,以及行为抑制和激活系统。
    当通过RAT(p=0.15)和mUG(p=0.59)评估时,TD组和ASD组之间的高AC参与者比例没有观察到显着差异。在TD(p=0.04)和ASD组(p=0.03)中,来自RAT的高AC参与者在IRI上的观点得分高于低AC参与者。在TD组中,根据mUG(p=0.03),高AC个体在IRI的幻想子量表上得分也更高;然而,ASD组没有这种趋势.
    目前的研究结果表明,移情在有和没有ASD的成年人的AC相关行为的个体差异中起重要作用,尽管根据TD和ASD人群之间AC相关行为的类型,作用可能有所不同。
    UNASSIGNED: Altruistic cooperation (AC) is essential in human social interactions. Previous studies have investigated AC-related behavior in children with autism spectrum disorder (ASD), revealing that there is considerable individual variability in the behavior. However, this issue is still largely unexplored especially in the adult population.
    UNASSIGNED: To investigate individual differences in AC-related behavior, we conducted the resource allocation task (RAT) and modified version of the ultimatum game (mUG) among adults with and without ASD.
    UNASSIGNED: The study employed a cross-sectional design, involving 27 adults with ASD (mean age 29.1 ± 4.3 years; three females) and 27 adults with typical development (TD) (mean age 25.8 ± 6.7 years; two females), who completed the RAT and mUG tasks. Beyond clinical characteristics, we assessed three primary psychological metrics: the interpersonal reactivity index (IRI), Barratt impulsiveness scale, and the behavioral inhibition and activation systems.
    UNASSIGNED: No significant differences were observed in the proportions of participants with high AC when assessed by RAT (p = 0.15) and mUG (p = 0.59) between the TD and ASD groups. Participants with high AC from the RAT demonstrated higher perspective-taking scores on the IRI than those with low AC within both the TD (p = 0.04) and ASD groups (p = 0.03). In the TD group, high AC individuals also scored higher on the IRI\'s fantasy subscale as per the mUG (p = 0.03); however, this trend was not present in the ASD group.
    UNASSIGNED: The present findings indicate that empathy plays an important role in individual differences in AC-related behavior among adults with and without ASD, although the role could be different depending on the types of AC-related behavior between TD and ASD populations.
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  • 文章类型: Journal Article
    背景:自闭症和精神分裂症谱系障碍(SSD)均具有非典型的社会认知特征。尽管有证据表明,在较低层次的情绪处理和较高层次的心理处理中,群体水平的表现相当,有限的研究已经研究了在这些条件下社会认知的神经基础。我们的目标是比较自闭症中社会认知的神经相关性,SSD,并通常开发控件(TDC)。
    方法:数据来自对自闭症或SSD和TDC(年龄16-35岁)的个体进行的两项统一研究,包括行为社会认知指标和两个功能磁共振成像(fMRI)任务:社会镜像模仿/观察(ImObs)任务和移情准确性(EA)任务。组级别比较,和纳入社会认知表现的诊断分析,为每个任务使用FSL的PALM运行,年龄和性别的协方差(1000个排列,阈值为p<0.05,FWE校正)。还进行了基于感兴趣区域(ROI)的探索分析。
    结果:ImObs和EA分析包括164和174名参与者,分别(自闭症N=56/59,SSDN=50/56,TDCN=58/59)。EA和较低级和较高级别的社会认知得分在各组之间有所不同。当规范的社交认知网络被激活时,在任一任务的神经相关性方面,均未检测到显著的全脑或基于ROI的组间水平差异.在诊断上,EA任务期间的神经活动,但不是ImObs任务,与低级和高级社会认知表现相关。
    结论:尽管试图与我们的年龄相匹配,性别,和种族,显著的组间差异仍然存在。检测区域大脑差异的能力也受到样本大小和全脑分析中的多重比较的影响。我们的发现可能无法推广到自闭症和并发智力障碍的SSD个体。
    结论:在我们的样本中发现的缺乏全脑和基于ROI的组水平差异以及观察到的维度EA脑行为关系表明,EA任务可能非常适合用于新型干预测试的目标参与。我们的结果还强调了跨条件方法的潜在效用,以更好地理解自闭症和SSD的社会认知。
    BACKGROUND: Autism and schizophrenia spectrum disorders (SSDs) both feature atypical social cognition. Despite evidence for comparable group-level performance in lower-level emotion processing and higher-level mentalizing, limited research has examined the neural basis of social cognition across these conditions. Our goal was to compare the neural correlates of social cognition in autism, SSDs, and typically developing controls (TDCs).
    METHODS: Data came from two harmonized studies in individuals diagnosed with autism or SSDs and TDCs (aged 16-35 years), including behavioral social cognitive metrics and two functional magnetic resonance imaging (fMRI) tasks: a social mirroring Imitate/Observe (ImObs) task and the Empathic Accuracy (EA) task. Group-level comparisons, and transdiagnostic analyses incorporating social cognitive performance, were run using FSL\'s PALM for each task, covarying for age and sex (1000 permutations, thresholded at p < 0.05 FWE-corrected). Exploratory region of interest (ROI)-based analyses were also conducted.
    RESULTS: ImObs and EA analyses included 164 and 174 participants, respectively (autism N = 56/59, SSD N = 50/56, TDC N = 58/59). EA and both lower- and higher-level social cognition scores differed across groups. While canonical social cognitive networks were activated, no significant whole-brain or ROI-based group-level differences in neural correlates for either task were detected. Transdiagnostically, neural activity during the EA task, but not the ImObs task, was associated with lower- and higher-level social cognitive performance.
    CONCLUSIONS: Despite attempting to match our groups on age, sex, and race, significant group differences remained. Power to detect regional brain differences is also influenced by sample size and multiple comparisons in whole-brain analyses. Our findings may not generalize to autism and SSD individuals with co-occurring intellectual disabilities.
    CONCLUSIONS: The lack of whole-brain and ROI-based group-level differences identified and the dimensional EA brain-behavior relationship observed across our sample suggest that the EA task may be well-suited to target engagement in novel intervention testing. Our results also emphasize the potential utility of cross-condition approaches to better understand social cognition across autism and SSDs.
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  • 文章类型: Journal Article
    背景:脆性X综合征(FXS)和自闭症谱系障碍(ASD)是神经发育状况,通常对日常功能和生活质量产生重大影响。FXS是遗传性智力障碍(ID)的最常见原因,也是ASD最常见的单基因原因。先前的文献表明,在FXS和ASD中,在静息状态下通过脑电图(EEG)测量的电生理活动会受到干扰。然而,FXS和ASD参与者的电生理特征是否相似尚不清楚.这项研究的目的是比较在这两个临床人群中发现的脑电图改变,这些人群表现出不同程度的认知和行为障碍。
    方法:静息态脑电信号复杂度,比较了47名FXS参与者(年龄在5-20岁之间)的α峰频率(APF)和功率谱密度(PSD),49名ASD参与者(年龄在6-17岁之间),和52个年龄分布相似的神经典型(NT)对照,在适当时使用以年龄为协变量的MANCOVA。控制年龄的MANCOVA,在适当的时候,随后进行了非语言智商(NVIQ)评分,以确定认知功能对EEG改变的影响。
    结果:我们的结果显示,与ASD参与者和NT对照相比,FXS参与者表现出降低的信号复杂性和APF,以及θ的功率改变,阿尔法和低伽马频带。与FXS参与者和NT对照相比,ASD参与者表现出夸大的β能力,以及与NT对照相比增强的低和高伽马功率。然而,ASD参与者没有表现出改变的信号复杂性或APF。此外,当控制NVIQ时,与NT对照组和ASD参与者相比,FXS参与者在较高量表中复杂性降低和APF较低的结果未得到重复.
    结论:这些研究结果表明,信号复杂性和APF可能反映了认知功能,而低伽马频带功率的改变可能与神经发育状况有关,特别是FXS和ASD。
    BACKGROUND: Fragile X syndrome (FXS) and autism spectrum disorder (ASD) are neurodevelopmental conditions that often have a substantial impact on daily functioning and quality of life. FXS is the most common cause of inherited intellectual disability (ID) and the most common monogenetic cause of ASD. Previous literature has shown that electrophysiological activity measured by electroencephalogram (EEG) during resting state is perturbated in FXS and ASD. However, whether electrophysiological profiles of participants with FXS and ASD are similar remains unclear. The aim of this study was to compare EEG alterations found in these two clinical populations presenting varying degrees of cognitive and behavioral impairments.
    METHODS: Resting state EEG signal complexity, alpha peak frequency (APF) and power spectral density (PSD) were compared between 47 participants with FXS (aged between 5-20), 49 participants with ASD (aged between 6-17), and 52 neurotypical (NT) controls with a similar age distribution using MANCOVAs with age as covariate when appropriate. MANCOVAs controlling for age, when appropriate, and nonverbal intelligence quotient (NVIQ) score were subsequently performed to determine the impact of cognitive functioning on EEG alterations.
    RESULTS: Our results showed that FXS participants manifested decreased signal complexity and APF compared to ASD participants and NT controls, as well as altered power in the theta, alpha and low gamma frequency bands. ASD participants showed exaggerated beta power compared to FXS participants and NT controls, as well as enhanced low and high gamma power compared to NT controls. However, ASD participants did not manifest altered signal complexity or APF. Furthermore, when controlling for NVIQ, results of decreased complexity in higher scales and lower APF in FXS participants compared to NT controls and ASD participants were not replicated.
    CONCLUSIONS: These findings suggest that signal complexity and APF might reflect cognitive functioning, while altered power in the low gamma frequency band might be associated with neurodevelopmental conditions, particularly FXS and ASD.
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  • 文章类型: Journal Article
    患有视力障碍(VI)的儿童有自闭症谱系障碍(ASD)的风险;但是,对于该人群,标准的观察性诊断评估尚未得到验证。该研究的主要目的是验证自闭症诊断观察计划(ADOS-2®,模块3),对于有VI的孩子。一项横断面观察性研究进行了100人(平均5½年,SD10.44个月,范围4-7岁;59(59%)男性)患有中度/重度VI的周围视觉系统先天性疾病的儿童。作为首要目标,83名(83%)的“口头流利”者使用改良的ADOS-2®(模块3)进行了评估。他们的分数被调查的可靠性,针对专家临床医生制定和父母评估的社会和沟通问卷(社会反应量表-2,SRS-2;儿童沟通清单-2)的构建和标准有效性。总样本的次要目标是报告该VI人群中ASD评级的频率和分布。发现修改后的ADOS-2®(模块3)具有很强的内部相干性和构造效度(两因素模型)和评分者间的可靠性。建立了一种新的VI诊断算法,该算法对临床医生的配方具有很高的敏感性和特异性。使用“ASD高风险”的最佳截止阈值,根据父母在SRS-2上的评分,发现了强并发标准有效性.改良的ADOS-2®(模块3)在确定该弱势群体中处于“ASD高风险”的儿童方面具有良好的可靠性和有效性。在整个样本中发现ASD比率升高,与以前的估计一致。
    Children with visual impairment (VI) are at risk of autism spectrum disorder (ASD); however standard observational diagnostic assessments are not validated for this population. The primary objective of the study is to validate a modified version of the Autism Diagnostic Observation Schedule (ADOS-2®, Module 3), for children with VI. A cross-sectional observational study was undertaken with 100 (mean 5½ years, SD 10.44 months, range 4-7 years; 59 (59%) males) children with congenital disorders of the peripheral visual system with moderate/severe-profound VI. As the primary objective, 83 (83%) who were \'verbally fluent\' were assessed with the modified ADOS-2® (Module 3). Their scores were investigated for reliability, construct and criterion validity against expert clinician formulation and parent-rated social and communication questionnaires (Social Responsiveness Scale-2, SRS-2; Children\'s Communication Checklist-2). The secondary objective with the total sample was to report on frequency and distribution of ASD ratings in this VI population. The modified ADOS-2® (Module 3) was found to have strong internal coherence and construct validity (two factor model) and inter-rater reliability. A new VI diagnostic algorithm was established which showed high sensitivity and specificity against clinician formulation. Using the best cut-off threshold for \'High Risk for ASD\', strong concurrent criterion validity was found according to parent-rated scores on the SRS-2. The modified ADOS-2® (Module 3) was shown to have promising reliability and validity in establishing children at \'High Risk of ASD\' in this vulnerable population. Elevated rates of ASD were found across the sample, in line with previous estimates.
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  • 文章类型: Journal Article
    目的:行为的限制性和/或重复性表现,利益,或活动(RRB)是自闭症谱系障碍(ASD)的核心症状领域之一。当前和过去的研究表明,ASD儿童的RRB有两个“集群”:重复性感觉运动(例如,手/手指和更复杂的运动习惯)和坚持相同(例如,抵抗环境变化)的行为。当前的研究旨在通过检查临床样本中患有ASD和其他神经发育障碍(ONDD)的个体中RRB的差异来填补空白。
    方法:共有558名患者在三级护理诊所接受了ASD的综合临床评估。基于临床诊断将样品分成ASD(n=292个个体)和ONDD(n=266)组。使用自闭症诊断访谈修订(ADI-R)RRB项目得分对整个样本进行探索性因素分析,ASD组,和ONDD组。
    结果:ADI-RRRB项目的探索性因素分析表明,全样本和ASD组采用2因素解决方案。加载到两个因素的项目,包括“重复性感觉运动”和“坚持一致性”行为,与以前的文献一致。结果表明非ASD组的独特负荷模式,将项目聚类为“更高阶”(例如,限制利益)和“低级”(例如,手和手指习惯)行为。
    结论:当前研究的结果可能表明,使用RRB来指导进行ASD评估的儿童筛查,以更好地识别患有ASD风险较高的儿童。
    OBJECTIVE: Restricted and/or repetitive displays of behavior, interests, or activities (RRBs) are one of the core symptom domains of autism spectrum disorder (ASD). Current and past research indicates two \'clusters\' of RRBs in children with ASD: repetitive sensorimotor (e.g., hand/finger and more complex motor mannerisms) and insistence on sameness (e.g., resistance to changes in the environment) behaviors. The current study aims to fill a gap by examining how RRBs may diverge in individuals with ASD and with other neurodevelopmental disorders (ONDD) in a clinical sample.
    METHODS: A total of 558 individuals were seen at a tertiary care clinic for a comprehensive clinical assessment of ASD. The sample was split into ASD (n = 292 individuals) and ONDD (n = 266) groups based on clinical diagnosis. Exploratory factor analyses were conducted using Autism Diagnostic Interview-Revised (ADI-R) RRB item scores for the overall sample, the ASD group, and the ONDD group.
    RESULTS: Exploratory factor analysis of ADI-R RRB items indicated a 2-factor solution for the full sample and ASD group. Items loaded onto two factors comprised of \"Repetitive Sensorimotor\" and \"Insistence on Sameness\" behaviors, consistent with previous literature. Results demonstrated a unique loading pattern for the non-ASD group, with items clustering into \"Higher Order\" (e.g., circumscribed interests) and \"Lower Order\" (e.g., hand and finger mannerisms) behaviors.
    CONCLUSIONS: The results of the current study may point towards using RRBs to guide screening of children who are referred for an ASD evaluation to better identify children who are at higher risk of having ASD.
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  • 文章类型: Journal Article
    这项研究旨在调查自闭症服务犬到来后家庭睡眠质量和数量的变化。我们假设患有自闭症谱系障碍的儿童或青少年的睡眠(通过活动记录进行客观评估,并通过父母报告的睡眠日记进行主观评估),和父母双方(通过自我报告的日记评估)会改善后狗的到来。18名青少年(15名男孩)的睡眠年龄从5岁到16岁(M=8.86),和他们的父母(14个母亲,11个父亲)在狗到达之前(测试前)和之后的8至10周(测试后)进行了5至7天的评估。指定的父母(前测和后测相同)完成了孩子的睡眠日记,同时戴着活动手表的人。从孩子和母亲的前测到后测,大多数睡眠参数都有显着改善。正如睡眠日记中报道的那样。然而,客观评估时,孩子的睡眠没有改善。父亲的睡眠时间增加后,狗的到来,当适应孩子的年龄。所有显着的效果都具有中等至较大的尺寸。这项研究为自闭症服务犬对家庭睡眠的积极影响提供了第一个定量证据。这些发现表明,狗的存在可能会增加孩子的安全感,谁会在夜间觉醒后恢复睡眠或留在卧室,改善父母的睡眠。
    This study aimed to investigate the changes in sleep quality and quantity among families following the arrival of an autism service dog. We hypothesized that the sleep of the child or adolescent with autism spectrum disorder (assessed objectively with actigraphy and subjectively with a parent-reported sleep diary), and of both parents (assessed by self-reported diaries) would improve after the dog\'s arrival. The sleep of 18 youths (15 boys) aged from 5 to 16 years (M = 8.86), and of their parents (14 mothers, 11 fathers) was assessed for a 5- to 7-day period before (pretest) and eight to ten weeks after the dog\'s arrival (posttest). A designated parent (the same at the pretest and posttest) completed the sleep diary of the child, who wore an actiwatch in the meantime. Significant improvement in most sleep parameters was observed from pretest to posttest for the child and the mother, as reported in the sleep diaries. However, there was no improvement in the child\'s sleep when assessed objectively. Fathers\' sleep duration increased after the dog\'s arrival, when adjusting for the child\'s age. All significant effects had medium to large sizes. This study provides the first quantitative evidence of the positive effect of autism service dogs on the sleep of families. These findings suggest that the dog\'s presence may increase the sense of safety for the child, who would resume sleeping faster or stay in the bedroom after nocturnal awakenings, leading to improved parents\' sleep.
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  • 文章类型: Journal Article
    本文确定了阻碍被诊断患有自闭症谱系障碍(ASD)的儿童最佳口腔健康的多方面挑战。虽然牙齿护理是整体健康的一个基本方面,患有ASD的儿童遇到经常被忽视的独特障碍。通过对现有文献和医疗保健专业人员的见解的全面回顾,这篇文章探讨了感官敏感性,沟通困难,以及导致该人群口腔卫生欠佳的行为问题。我们还讨论了护理人员的关键作用,牙医,和教育工作者应对这些挑战,强调早期干预和定制策略以改善ASD儿童口腔健康的重要性。通过照亮这些障碍物,本文旨在为ASD儿童的口腔保健提供更具包容性和整体性的方法,最终提高他们的整体生活质量。
    This article identifies the multifaceted challenges that hinder optimal oral health among children diagnosed with autism spectrum disorder (ASD). While dental care is a fundamental aspect of overall well-being, children with ASD encounter unique obstacles that often go unnoticed. Drawing from a comprehensive review of existing literature and insights from healthcare professionals, this article explores the sensory sensitivities, communication difficulties, and behavioral issues that contribute to suboptimal oral hygiene in this demographic. We also discuss the critical role of caregivers, dentists, and educators in addressing these challenges, emphasizing the importance of early intervention and tailored strategies to improve the oral health of children with ASD. By shedding light on these obstacles, this article aims to foster a more inclusive and holistic approach to oral healthcare for children with ASD, ultimately enhancing their overall quality of life.
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  • 文章类型: Case Reports
    BRD4相互作用的染色质重塑复合物相关蛋白(BICRA)中的致病变体与BICRA相关的神经发育障碍有关。这些疾病的特征是发育迟缓,智力残疾,和畸形的面部特征,以及行为异常,增长不佳,视力异常,和喂养困难。我们介绍了一个被诊断为自闭症谱系障碍(ASD)的三岁男性病例,发育性言语延迟,和癫痫。通过拷贝数变体(CNV)分析进行的全外显子组测序揭示了BICRA基因中不确定意义的杂合变体(c.1246G>C,p.Ala416Pro)。该病例报告旨在强调与BICRA相关的神经发育障碍相关的基因,该基因在ASD患者中很少描述。进一步的研究对于探索染色质重塑在ASD的病因和发展中的作用至关重要。
    Pathogenic variants in the BRD4 interacting chromatin remodeling complex associated protein (BICRA) are linked to BICRA-related neurodevelopmental disorders. These disorders are characterized by developmental delay, intellectual disability, and dysmorphic facial features, along with behavioral abnormalities, poor growth, vision abnormalities, and feeding difficulties. We present the case of a three-year-old male diagnosed with autism spectrum disorder (ASD), developmental speech delay, and epilepsy. Whole exome sequencing with copy number variant (CNV) analysis revealed a heterozygous variant of uncertain significance in the BICRA gene (c.1246G>C, p.Ala416Pro). This case report aims to highlight a gene associated with BICRA-related neurodevelopmental disorders that is rarely described in ASD patients. Further research is crucial to explore the role of chromatin remodeling in the etiology and development of ASD.
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  • 文章类型: Journal Article
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