autistic disorder

自闭症
  • 文章类型: Journal Article
    背景:自闭症谱系障碍(ASD)的神经生物学基础是多种多样的,并且可能是多因素的。一种可能的机制是增加的氧化应激导致改变的神经发育和脑功能。然而,这一假设主要在验尸研究中得到检验.到目前为止,在自闭症患者的体内研究中,有报道称额叶谷胱甘肽(GSH)水平没有差异,枕骨,和皮质下区域。然而,这些研究受到GSH定量技术上具有挑战性的限制,大脑主要的抗氧化分子.本研究旨在通过使用GSH定制的光谱序列和优化的定量方法来克服先前研究的局限性,以提供自闭症成人GSH水平的清晰度。
    方法:我们采用波谱编辑质子磁共振波谱(1H-MRS)结合线性组合模型拟合对孤独症和非孤独症成人(男性和女性)背侧前额叶皮质(DMPFC)和枕内侧皮质(mOCC)中的GSH进行量化。我们比较了组间的GSH水平。我们还检查了GSH和当前自闭症症状之间的相关性,使用自闭症商数(AQ)测量。
    结果:数据来自31名成年自闭症患者(24名男性,7名女性)和40名非自闭症参与者(21名男性,16名女性);迄今为止最大的样本。GSH水平在任一地区的组间没有差异。未观察到与AQ的相关性。
    结论:使用1H-MRS测量的GSH水平在自闭症成人的DMPFC和mOCC区域没有改变,这表明这些皮质区域的氧化应激不是ASD的明显神经生物学特征。
    BACKGROUND: The neurobiological underpinnings of Autism Spectrum Disorder (ASD) are diverse and likely multifactorial. One possible mechanism is increased oxidative stress leading to altered neurodevelopment and brain function. However, this hypothesis has mostly been tested in post-mortem studies. So far, available in vivo studies in autistic individuals have reported no differences in glutathione (GSH) levels in frontal, occipital, and subcortical regions. However, these studies were limited by the technically challenging quantification of GSH, the main brain antioxidant molecule. This study aimed to overcome previous studies\' limitations by using a GSH-tailored spectroscopy sequence and optimised quantification methodology to provide clarity on GSH levels in autistic adults.
    METHODS: We used spectral editing proton-magnetic resonance spectroscopy (1H-MRS) combined with linear combination model fitting to quantify GSH in the dorsomedial prefrontal cortex (DMPFC) and medial occipital cortex (mOCC) of autistic and non-autistic adults (male and female). We compared GSH levels between groups. We also examined correlations between GSH and current autism symptoms, measured using the Autism Quotient (AQ).
    RESULTS: Data were available from 31 adult autistic participants (24 males, 7 females) and 40 non-autistic participants (21 males, 16 females); the largest sample to date. The GSH levels did not differ between groups in either region. No correlations with AQ were observed.
    CONCLUSIONS: GSH levels as measured using 1H-MRS are unaltered in the DMPFC and mOCC regions of autistic adults, suggesting that oxidative stress in these cortical regions is not a marked neurobiological signature of ASD.
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  • 文章类型: Journal Article
    目标:护理导航支持旨在帮助家庭与医疗保健资源联系。鉴于自闭症儿童比同龄人有更多未满足的需求,对于最近接受诊断的家庭来说,这种服务可能特别有价值。这项研究试图在自闭症远程健康评估后检查对护理导航支持的参与。具体来说,我们报告了哪些人口统计学和诊断因素预测护理导航支持的参与度和对该服务的满意度.
    方法:在2020年4月至2022年4月期间,为220个接受自闭症远程健康评估的家庭提供了护理导航。初步评估预约和2次后续护理导航会议的调查数据(评估后约1-3个月和约9-12个月),以及医疗记录中的数据,收集和分析,以确定是否有任何性状预测参与护理导航。还分析了对护理导航的满意度。
    结果:220个家庭,48.2%(n=106)在评估后的1至3个月内参加了护理导航会议,59.5%(n=131)在2个时间段内参加了至少1次会议。研究结果不支持自闭症诊断可以预测参与的假设。分析发现,儿童性别(女性与男性相比)以及儿童种族和种族(有色人种儿童与白人儿童相比)可以预测订婚。对于那些从事护理导航的人来说,报告了很高的满意度。
    结论:参与者的参与率和满意度表明,在进行远程健康自闭症评估后,护理导航对家庭来说是一项有价值的服务。
    OBJECTIVE: Care navigation support is designed to help connect families with health care resources. Given that children with autism have more unmet needs than their peers, such a service may be especially valuable to families who have recently received a diagnosis. This study sought to examine engagement in care navigation support after an autism telehealth evaluation. Specifically, we report on what demographic and diagnostic factors predicted engagement in care navigation support and satisfaction with this service.
    METHODS: Care navigation was offered to 220 families receiving autism telehealth evaluations between April 2020 and April 2022. Survey data from initial evaluation appointments and 2 follow-up care navigation meetings (approximately 1-3 months and approximately 9-12 months after evaluation), along with data from medical records, were collected and analyzed to determine whether any traits predicted engagement in care navigation. Satisfaction with care navigation was also analyzed.
    RESULTS: Of 220 families, 48.2% (n = 106) participated in a care navigation meeting within 1 to 3 months after an evaluation and 59.5% (n = 131) participated in at least 1 meeting across 2 time periods. The findings did not support the hypothesis that a diagnosis of autism would predict engagement. Analyses found that child sex (female compared with male) and child race and ethnicity (children of color compared with White children) predicted engagement. For those who engaged in care navigation, high satisfaction was reported.
    CONCLUSIONS: Participants\' engagement rates and satisfaction levels suggest care navigation is a valuable service for families after a telehealth autism evaluation.
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  • 文章类型: Journal Article
    这项研究有两个目的。首先,我们的目的是调查ACB的患病率,PCB,与一组没有ASD的儿童相比,一组患有ASD的阿尔巴尼亚儿童的口腔习惯。第二,我们的目标是确定ASD与ACB的关联,PCB,和口腔习惯。样本包括125名自闭症儿童(91名男性,34名女性)来自地拉那的2所残疾儿童特殊学校和2所日常住宿中心。对照组包括125名无ASD儿童。通过卡方检验评估分类变量之间的关系。为了识别ASD的潜在风险因素,我们进行了二元逻辑回归。在初级和青少年牙列阶段之间,CB或口腔习惯没有统计学上的显着差异。比较患有CB和口腔习惯的ASD儿童,发现PCB的患病率存在显着差异。二元Logistic回归显示,ACB,PCB和口腔习惯与ASD无关。CB在原发性和混合牙列阶段的ASD儿童中更为普遍。口腔习惯在混合牙列和青少年牙列阶段更为普遍。然而,ASD不是CB或其他口腔习惯的危险因素。
    This study had two aims. First, we aimed to investigate the prevalence of ACB, PCB, and oral habits among a group of Albanian children with ASD compared with a group of children without ASD. Second, we aimed to identify the associations of ASD with ACB, PCB, and oral habits. The sample inlcuded 125 children with ASD (91 males, 34 females) from 2 special schools for children with disabilities and 2 daily residential centers in Tirana. The control group included 125 children without ASD. The relationships between categorical variables were evaluated via the chi-square test. To identify the potential risk factors for ASD, we performed binary logistic regression. No statistically significant differences were found for CB or oral habits between the primary and adolescent dentition stages. A comparison of children with ASD with CB and oral habits revealed a significant difference in the prevalence of PCB. Binary logistic regression revealed that ACB, PCB and oral habits were not associated with ASD. CB was more prevalent among children with ASD in the primary and mixed dentition stages. Oral habits were more prevalent in the mixed and adolescent dentition stages. However, ASD is not a risk factor for CB or other oral habits.
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  • 文章类型: Case Reports
    暂无摘要。
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  • 文章类型: Journal Article
    尽管阅读是成功的社会交往的重要先决条件,潜在的机制仍然是争论的问题。不清楚,例如,如果推断他人和自己的精神状态是不同的过程,或者是基于一种共同的机制。使用带有听觉心率反馈的情感感应实验设置,解决了自我和他人的情感阅读,我们调查了非自闭症研究参与者是否依赖类似的信息进行自我和其他导向的思维阅读.我们假设由于自闭症患者的阅读能力改变,主要是具有低自闭症特征的个体会关注额外的感官线索,比如心率,来推断他们自己和他们赌博伙伴的情感状态。我们的分析表明,心率信号的解释在自我和其他指导的阅读试验中有所不同。这种影响是由自闭症特征调节的,这表明具有较高自闭症特征的个体可能没有将心率反馈解释为赌博伴侣的评分,并且在自我和其他指导的思维阅读试验之间的差异较小。我们在自我和其他导向的思维阅读的共同机制的背景下讨论这些结果,并假设内部和外部感官信息的权重可能有助于我们如何理解我们和他人的精神状态。
    Although mindreading is an important prerequisite for successful social interactions, the underlying mechanisms are still matter of debate. It is unclear, for example, if inferring others\' and own mental states are distinct processes or are based on a common mechanism. Using an affect-induction experimental set-up with an acoustic heart rate feedback that addresses affective mindreading in self and others, we investigated if non-autistic study participants relied on similar information for self- and other-directed mindreading. We assumed that due to altered mindreading capacities in autism, mainly individuals with low autistic traits would focus on additional sensory cues, such as heart rate, to infer their own and their gambling partner\'s affective states. Our analyses showed that the interpretation of a heart rate signal differed in self- and other-directed mindreading trials. This effect was modulated by autistic traits suggesting that individuals with higher autistic traits might not have interpreted the heart rate feedback for gambling partner ratings and differentiated less between self- and other-directed mindreading trials. We discuss these results in the context of a common mechanism underlying self- and other-directed mindreading and hypothesize that the weighting of internal and external sensory information might contribute to how we make sense of our and others\' mental states.
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  • 文章类型: Journal Article
    背景:具有更多的“自闭症特征”与心理健康状况的风险增加有关。然而,很少有研究在非临床样本中检查自闭症特征。本研究旨在分析早期青少年自闭症特征与内化症状之间的关系,并探讨自我效能感的调节作用。
    方法:调查数据来自居住在大吉岭的10-14岁的早期青少年,印度(n=274)评估自闭症特征,自我效能感,和内化症状。
    结果:较高的内在化症状与较高的自闭症特征报告显着相关。学术,社会,自我效能感的情绪维度调节了孤独症特质与内化症状之间的关系。
    结论:在自闭症特质得分高和低的青少年中,社交和情感自我效能感之间的调节作用表明,需要为神经分化的青少年设计社会情感学习干预措施。此类干预措施旨在减少青春期早期的内在化症状,并改善未来的心理健康轨迹。
    BACKGROUND: Having more \"autistic traits\" is associated with an increased risk of mental health conditions. However, few studies have examined autistic traits in nonclinical samples. This study aims to analyze the relationship between autistic traits and internalizing symptoms among early adolescents and to examine the moderating effect of self-efficacy.
    METHODS: Survey data were collected from early adolescents ages 10-14 living in Darjeeling, India (n = 274) to assess autistic traits, self-efficacy, and internalizing symptoms.
    RESULTS: Higher internalizing symptoms were significantly associated with a higher report of autistic traits. Academic, social, and emotional dimensions of self-efficacy moderated the relationship between autistic traits and internalizing symptoms.
    CONCLUSIONS: The moderation effects between social and emotional self-efficacy among youth with high versus low autism trait scores suggest the need for social-emotional learning interventions designed for and with neurodivergent youth. Such interventions aim to reduce internalizing symptoms during early adolescence and improve future mental health trajectories.
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  • 文章类型: Journal Article
    背景:自闭症谱系条件(ASC)和定量自闭症特征(QAT)与感觉症状有关,这可能会导致焦虑,并对社会和认知发展产生不利影响。虽然感官症状可以发生在所有的感官,特定的感觉模式作为自闭症表型和焦虑因素的相对作用尚不清楚。这项研究的目的是检查哪些感觉症状最能预测高度焦虑。
    方法:我们招募了257名6至11岁儿童的女性主要照顾者(49%的女孩)进行问卷调查,其中包括经典QATs的父母报告措施(社会,交际,和刚性),自闭症相关的感觉运动症状(视觉,听觉,触觉,嗅觉,味觉,前庭,本体感受,和电机),和焦虑症状。首先,贝叶斯随机搜索变量选择(SSVS)用于识别特定QAT的最可能的感觉运动预测因子以及已诊断的ASC。然后,选择的预测因子被用在另一个SSVS中,使用焦虑症状作为因变量,确定哪些与自闭症相关的感觉运动症状最有力地预测了焦虑。最后,使用线性回归估计焦虑相关感觉症状的效应大小.
    结果:我们发现听觉症状和运动困难是ASC诊断的最具预测性的。发育性运动困难也与所有个人QAT密切相关,而听觉症状更有选择性地预测刚性特征。触觉症状有力地预测了社交互动QAT,本体感受症状可预测交际QAT。听觉和嗅觉处理困难最强烈地预测了焦虑结果。
    结论:结果支持对神经发育人群的声音和听力的抱怨保持警惕的临床重要性,并且听觉处理困难可以被评估为患有和未患有自闭症的儿童的心理健康不良的早期标志。嗅觉处理差异似乎是与ASC或QAT相关程度较低的焦虑标记,而运动困难与自闭症高度相关,但与焦虑结局的相关性不强。我们建议,未来的研究可能集中在神经发育中枢听觉处理功能障碍的机制和后果及其与焦虑症的潜在关系上。
    BACKGROUND: Autism spectrum conditions (ASC) and quantitative autistic traits (QATs) are associated with sensory symptoms, which may contribute to anxiety and adversely affect social and cognitive development. Although sensory symptoms can occur across all senses, the relative roles of specific sensory modalities as contributors to the autistic phenotype and to anxiety are not well understood. The objective of this study was to examine which sensory symptoms were most predictive of high anxiety.
    METHODS: We recruited 257 female primary caregivers of children aged 6 to 11 years (49% girls) to a questionnaire study comprising parent-report measures for classical QATs (social, communicative, and rigid), autism-related sensorimotor symptoms (visual, auditory, tactile, olfactory, gustatory, vestibular, proprioceptive, and motor), and anxiety symptoms. First, Bayesian stochastic search variable selection (SSVS) was used to identify the most probable sensorimotor predictors of specific QATs as well as diagnosed ASC. Then, the selected predictors were used in another SSVS, using anxiety symptoms as a dependent variable, to identify which of the autism-relevant sensorimotor symptoms were most robustly predictive of anxiety. Finally, the effect sizes of anxiety-related sensory symptoms were estimated with linear regressions.
    RESULTS: We found that auditory symptoms and motor difficulties were most predictive of ASC diagnosis. Developmental motor difficulties were also strongly related to all individual QATs, whereas auditory symptoms were more selectively predictive of rigid traits. Tactile symptoms robustly predicted social interaction QATs, and proprioceptive symptoms predicted communicative QATs. Anxiety outcomes were most strongly predicted by difficulties with auditory and olfactory processing.
    CONCLUSIONS: The results support the clinical importance of being alert to complaints about sounds and hearing in neurodevelopmental populations, and that auditory processing difficulties may be evaluated as an early marker of poor mental health in children with and without diagnosed autism. Olfactory processing differences appeared to be an anxiety marker less strongly associated with ASC or QATs, while motor difficulties were highly autism-relevant but not equally strongly associated with anxiety outcomes. We suggest that future studies may focus on the mechanisms and consequences of neurodevelopmental central auditory processing dysfunction and its potential relationship to anxiety disorders.
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  • 文章类型: Journal Article
    从1930年代到1970年代后期,儿童精神分裂症的诊断在美国被广泛采用。在本文中,我将提供诊断史。一些关于儿童精神分裂症的最早出版物概述了儿童精神分裂症有不同类型的概念。我将概述这些类型的发展,概述与各种类型相关的不同症状和原因。我概述了不同类型的儿童精神分裂症是如何主要根据发病年龄和被认为存在的精神病类型来划分的。我将概述各种儿童精神科医生如何看待其他儿童精神科医生提出的儿童精神分裂症的类型。我将概述放弃儿童精神分裂症的过程。我用我的历史来挑战我认为对儿童精神分裂症的误解。此外,我将用我的历史来吸取教训,思考现代自闭症的概念。它显示了围绕病因制定精神病诊断的潜在问题,以及如何需要妥协来防止这些问题。此外,儿童精神分裂症表明,精神科医生可以制定不基于功能水平的亚型,我们可以将亚型视为动态的,从而某人可以随着时间的推移改变他们表现出的亚型。
    The diagnosis of childhood schizophrenia was widely employed in the U.S. from the 1930s to the late 1970s. In this paper I will provide a history of the diagnosis. Some of the earliest publications on childhood schizophrenia outlined the notion that childhood schizophrenia had different types. I will outline the development of these types, outlining differing symptoms and causes associated with various types. I outline how different types of childhood schizophrenia were demarcated from one another primarily on age of onset and the type of psychosis which was believed to be present. I will outline how various child psychiatrists viewed the types of childhood schizophrenia posited by other child psychiatrists. I will outline the process of abandoning childhood schizophrenia. I use my history to challenge what I believe are misconceptions about childhood schizophrenia. Also, I will use my history to draw lessons for thinking about modern notions of autism. It shows potential problems around formulating psychiatric diagnoses around causes and how compromises might be needed to prevent those problems. Additionally, childhood schizophrenia shows that psychiatrists could formulate subtypes that are not based upon functioning levels and that we can conceive of subtypes as dynamic whereby someone can change which subtype they exhibit over time.
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  • 文章类型: Journal Article
    领域-一般预测差异已被认为是自闭症认知行为特征的许多方面。这种差异的一个有趣的潜在含义是学习的超可塑性-自闭症患者可能会优先于先前学习的积累而享有最近的输入。因为真实世界的语言输入是高度可变的,超可塑性可能会对语言学习产生严重影响。为了研究语言处理任务中潜在的超可塑性,我们对2至3岁的自闭症儿童和神经典型(NT)同龄人实施了一项实验性预期眼动(AEM)任务.自闭症儿童的预期变化从之前到之后的转换在突发事件中没有显着差异,未能支持语言领域超可塑性的主张。对自闭症儿童个体差异的分析表明,认知能力与初始预测相关,稳定的突发事件,但是年龄和接受语言都与任务表现无关。根据临床意义和研究自闭症预测差异的更广泛背景来讨论结果。
    Domain-general prediction differences have been posited as underlying many aspects of the cognitive-behavioral profile in autism. An interesting potential implication of such differences is hyperplasticity of learning-the idea that autistic individuals may privilege more recent input over the accumulation of prior learning. Because real world language input is highly variable, hyperplasticity could have serious ramifications for language learning. To investigate potential hyperplasticity during a language processing task, we administered an experimental anticipatory eye movement (AEM) task to 2- to 3-year-old autistic children and neurotypical (NT) peers. Autistic children\'s change in anticipation from before to after a switch in contingencies did not significantly differ from NT counterparts, failing to support claims of hyperplasticity in the linguistic domain. Analysis of individual differences among autistic children revealed that cognitive ability was associated with prediction of the initial, stable contingencies, but neither age nor receptive language related to task performance. Results are discussed in terms of clinical implications and the broader context of research investigating prediction differences in autism.
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  • 文章类型: Journal Article
    自闭症谱系障碍的主要驱动因素之一是数百个基因中的风险等位基因,它们可能在共享但未知的蛋白质复合物中相互作用。在这里,我们开发了一种可扩展的基因组编辑介导的方法来靶向小鼠大脑中的14个高置信度自闭症风险基因,用于基于邻近的内源性蛋白质组学。实现高特异性空间蛋白质组的鉴定。由此产生的天然邻近蛋白质组富含自闭症患者大脑中失调的人类基因,并揭示高置信度风险基因的蛋白质与较低置信度的蛋白质之间的邻近相互作用,这可能为优先考虑遗传风险提供了新的途径。重要的是,这些数据集丰富了共同的细胞功能和遗传相互作用,这可能是疾病的基础。我们在两个自闭症模型中通过空间蛋白质组学和基于CRISPR的表达调控来测试这一概念,展示了调节其失调机制的功能相互作用。一起,这些结果揭示了体内与自闭症相关的天然蛋白质组网络,为理解和操纵支撑其病因的细胞驱动器提供了新的途径。
    One of the main drivers of autism spectrum disorder is risk alleles within hundreds of genes, which may interact within shared but unknown protein complexes. Here we develop a scalable genome-editing-mediated approach to target 14 high-confidence autism risk genes within the mouse brain for proximity-based endogenous proteomics, achieving the identification of high-specificity spatial proteomes. The resulting native proximity proteomes are enriched for human genes dysregulated in the brain of autistic individuals, and reveal proximity interactions between proteins from high-confidence risk genes with those of lower-confidence that may provide new avenues to prioritize genetic risk. Importantly, the datasets are enriched for shared cellular functions and genetic interactions that may underlie the condition. We test this notion by spatial proteomics and CRISPR-based regulation of expression in two autism models, demonstrating functional interactions that modulate mechanisms of their dysregulation. Together, these results reveal native proteome networks in vivo relevant to autism, providing new inroads for understanding and manipulating the cellular drivers underpinning its etiology.
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