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Longitudinal changes in executive function in autism spectrum disorder: A systematic review and meta-analyses. 自闭症谱系障碍患者执行功能的纵向变化:系统综述和荟萃分析。
Michael K Yeung, Jieru Bai, Kwai-Lai Mak

Individuals with an autism spectrum disorder (ASD) diagnosis show impairment in executive function (EF). However, findings are mixed regarding differences in the age effect on EF between autistic individuals and persons with typical development (TD). Questions remain regarding whether the age-related trajectories of EF in ASD are the same as or different from those in TD. To bridge this knowledge gap, we conducted a systematic review and meta-analyses of longitudinal studies that compared age-related changes in EF between ASD and TD groups (preregistration: osf.io/j5764). A literature search was conducted using PubMed, PsycINFO, and Web of Science on January 29, 2024. After screening by two independent reviewers, 14 longitudinal studies were included. Random-effects meta-analyses of studies involving a maximum total of 518 autistic and 3558 TD children and adolescents (mean baseline ages: 5.7-12.0 years) showed that ASD had significantly poorer EF than TD at both baseline and follow-up. However, there was no significant group difference in the age-related change in EF across domains, including working memory, inhibition, shifting, and planning. Robust Bayesian meta-analyses also provided substantial evidence in favor of the null hypothesis that ASD and TD groups showed similar changes over time for most EF processes. Limitations of the literature included the limited number of longitudinal studies and a narrow range of developmental stages and EF constructs analyzed across studies. Altogether, these findings suggest that autistic children and adolescents generally can improve in EF over time similarly to their neurotypical peers. This has important implications for parents and educators, encouraging appropriate EF training and intervention for autistic children and adolescents at an early stage.

被诊断为自闭症谱系障碍(ASD)的患者会表现出执行功能(EF)受损。然而,关于自闭症患者与典型发育患者(TD)之间年龄对执行功能影响的差异,研究结果不一。关于自闭症患者的执行功能与年龄相关的轨迹与典型发育障碍患者的轨迹是相同还是不同,仍然存在疑问。为了弥补这一知识空白,我们对比较 ASD 和 TD 组间 EF 年龄相关变化的纵向研究进行了系统回顾和荟萃分析(预注册:osf.io/j5764)。我们于 2024 年 1 月 29 日使用 PubMed、PsycINFO 和 Web of Science 进行了文献检索。经过两位独立审稿人的筛选,共纳入了 14 项纵向研究。随机效应荟萃分析最多涉及 518 名自闭症儿童和青少年以及 3558 名患有自闭症的儿童和青少年(平均基线年龄:5.7-12.0 岁),结果显示,在基线和随访期间,自闭症儿童和青少年的 EF 明显低于患有自闭症的儿童和青少年。然而,在工作记忆、抑制、移位和计划等领域,与年龄相关的EF变化没有明显的群体差异。稳健贝叶斯荟萃分析也提供了大量证据,证明ASD组和TD组在大多数EF过程中表现出相似的随时间变化的零假设。文献的局限性包括纵向研究的数量有限,以及各研究分析的发展阶段和 EF 构建的范围较窄。总之,这些研究结果表明,自闭症儿童和青少年随着时间的推移,他们的EF一般都能得到改善,与神经正常的同龄人类似。这对家长和教育工作者具有重要意义,可鼓励在早期阶段对自闭症儿童和青少年进行适当的情绪情感训练和干预。
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引用次数: 0
Phenotyping variability in early socio-communicative skills in young children with autism and its influence on later development. 自闭症幼儿早期社会交际能力的表型变异及其对日后发展的影响。
Fiona Journal, Martina Franchini, Michel Godel, Nada Kojovic, Kenza Latrèche, Stefania Solazzo, Maude Schneider, Marie Schaer

Children with autism spectrum disorder (ASD) often face challenges in early social communication skills, prompting the need for a detailed exploration of specific behaviors and their impact on cognitive and adaptive functioning. This study aims to address this gap by examining the developmental trajectories of early social communication skills in preschoolers with ASD aged 18-60 months, comparing them to age-matched typically developing (TD) children. Utilizing the early social communication scales (ESCS), the research employs a longitudinal design to capture changes over time. We apply a principal component analysis (PCA) to ESCS variables to identify underlying components, and cluster analysis to identify subgroups based on preverbal communication profiles. The results reveal consistent differences in early social communication skills between ASD and TD children, with ASD children exhibiting reduced skills. PCA identifies two components, distinguishing objects-directed behaviors and social interaction-directed behaviors. Cluster analysis identifies three subgroups of autistic children, each displaying specific communication profiles associated with distinct cognitive and adaptive functioning trajectories. In conclusion, this study provides a nuanced understanding of early social communication development in ASD, emphasizing the importance of low-level behaviors. The identification of subgroups and their unique trajectories contributes to a more comprehensive understanding of ASD heterogeneity. These findings underscore the significance of early diagnosis, focusing on specific behaviors predicting cognitive and adaptive functioning outcomes. The study encourages further research to explore the sequential development of these skills, offering valuable insights for interventions and support strategies.

患有自闭症谱系障碍(ASD)的儿童往往在早期社交沟通技能方面面临挑战,因此需要详细探讨特定行为及其对认知和适应功能的影响。本研究旨在通过研究18-60个月大的学龄前自闭症谱系障碍儿童的早期社会交往能力的发展轨迹,并将其与年龄匹配的典型发育(TD)儿童进行比较,从而弥补这一空白。研究采用纵向设计,利用早期社交沟通量表(ESCS)来捕捉随时间发生的变化。我们对ESCS变量进行主成分分析(PCA),以确定其基本成分,并根据前语言沟通特征进行聚类分析,以确定亚组。结果显示,ASD 儿童和 TD 儿童在早期社会交往能力方面存在一致的差异,ASD 儿童的能力更弱。PCA 确定了两个组成部分,区分了以对象为导向的行为和以社会互动为导向的行为。聚类分析确定了三个自闭症儿童亚群,每个亚群都表现出与不同认知和适应功能轨迹相关的特定沟通特征。总之,本研究对自闭症儿童的早期社会交流发展提供了细致入微的理解,强调了低水平行为的重要性。对亚组及其独特轨迹的识别有助于更全面地了解 ASD 的异质性。这些发现强调了早期诊断的重要性,重点是预测认知和适应功能结果的特定行为。该研究鼓励进一步研究探索这些技能的顺序发展,为干预和支持策略提供有价值的见解。
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引用次数: 0
Parent-infant interaction trajectories in infants with an elevated likelihood for autism in relation to 3-year clinical outcome. 自闭症高危婴儿的亲子互动轨迹与 3 年临床结果的关系。
Eirini Papageorgopoulou, Emily J H Jones, Mark H Johnson, Tony Charman, Jonathan Green, Ming Wai Wan

Developmental antecedents of autism may affect parent-infant interactions (PII), altering the context in which core social skills develop. While studies have identified differences in PII between infants with and without elevated likelihood (EL) for autism, samples have been small. Here, we examined whether previously reported differences are replicable. From a longitudinal study of 113 EL and 27 typical likelihood infants (TL), 6-min videotaped unstructured PII was blind rated at 8 and 14 months on eight interactional qualities. Autism outcome was assessed at 36 months. Linear mixed-effects models found higher parent sensitive responsiveness, nondirectiveness, and mutuality ratings in TL than EL infants with and without later autism. PII qualities at 8 (infant positive affect, parent directiveness) and 14 months (infant attentiveness to parent, mutuality) predicted 3-year autism. Attentiveness to parent decreased between 8 and 14 months in EL infants with later autism. This larger study supports previous findings of emerging alterations in PII in this group and extends on this by detecting earlier (8-month) predictive effects of PII for autism outcome and a more marked trajectory of decreased social attentiveness. The findings strengthen the evidence base to support the implementation of early preemptive interventions to support PII in infants with early autism signs.

自闭症的发育先兆可能会影响父母与婴儿之间的互动(PII),从而改变核心社交技能的发展环境。虽然已有研究发现患有自闭症和未患有自闭症的婴儿在亲子互动方面存在差异,但这些研究的样本都很小。在此,我们研究了之前报道的差异是否可以复制。在一项针对 113 名 EL 婴儿和 27 名典型 EL 婴儿(TL)的纵向研究中,我们分别在婴儿 8 个月和 14 个月时对 8 种互动品质进行了 6 分钟非结构化 PII 盲评。自闭症结果在 36 个月时进行评估。线性混合效应模型发现,与 EL 婴儿相比,TL 婴儿的父母敏感反应度、非指导性和相互性评分均高于 EL 婴儿,无论其日后是否患有自闭症。8 个月(婴儿的积极情绪、父母的直接性)和 14 个月(婴儿对父母的专注度、相互性)时的 PII 质量可预测 3 年的自闭症。患有日后自闭症的 EL 婴儿在 8 个月至 14 个月期间对父母的关注度有所下降。这项规模更大的研究证实了之前的研究结果,即自闭症婴儿的 PII 出现了新的变化,并通过检测 PII 对自闭症结果的早期(8 个月)预测效应和更明显的社会关注度下降轨迹,对这一研究结果进行了扩展。这些发现加强了证据基础,支持对有早期自闭症征兆的婴儿实施早期预防性干预,以支持他们的 PII。
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引用次数: 0
Three autism subtypes based on single-subject gray matter network revealed by semi-supervised machine learning. 通过半监督机器学习揭示基于单个受试者灰质网络的三种自闭症亚型
Guomei Xu, Guohong Geng, Ankang Wang, Zhangyong Li, Zhichao Liu, Yanping Liu, Jun Hu, Wei Wang, Xinwei Li

Autism spectrum disorder (ASD) is a heterogeneous, early-onset neurodevelopmental condition characterized by persistent impairments in social interaction and communication. This study aims to delineate ASD subtypes based on individual gray matter brain networks and provide new insights from a graph theory perspective. In this study, we extracted and normalized single-subject gray matter networks and calculated each network's topological properties. The heterogeneity through discriminative analysis (HYDRA) method was utilized to subtype all patients based on network properties. Next, we explored the differences among ASD subtypes in terms of network properties and clinical measures. Our investigation identified three distinct ASD subtypes. In the case-control study, these subtypes exhibited significant differences, particularly in the precentral gyrus, lingual gyrus, and middle frontal gyrus. In the case analysis, significant differences in global and nodal properties were observed between any two subtypes. Clinically, subtype 1 showed lower VIQ and PIQ compared to subtype 3, but exhibited higher scores in ADOS-Communication and ADOS-Total compared to subtype 2. The results highlight the distinct brain network properties and behaviors among different subtypes of male patients with ASD, providing valuable insights into the neural mechanisms underlying ASD heterogeneity.

自闭症谱系障碍(ASD)是一种异质性的早发性神经发育疾病,其特点是社交互动和沟通能力持续受损。本研究旨在根据个体灰质脑网络划分 ASD 亚型,并从图论角度提供新的见解。在这项研究中,我们提取并归一化了单个受试者的灰质网络,并计算了每个网络的拓扑特性。我们利用异质性判别分析(HYDRA)方法,根据网络属性对所有患者进行了分型。接下来,我们探讨了 ASD 亚型在网络属性和临床指标方面的差异。我们的研究发现了三种不同的 ASD 亚型。在病例对照研究中,这些亚型表现出显著差异,尤其是在中央前回、舌回和额叶中回。在病例分析中,任何两个亚型之间在整体和结节特性上都存在明显差异。在临床上,与亚型 3 相比,亚型 1 的 VIQ 和 PIQ 较低,但与亚型 2 相比,亚型 1 在 ADOS-Communication 和 ADOS-Total 中的得分较高。这些结果突显了不同亚型的男性 ASD 患者之间不同的大脑网络特性和行为,为研究 ASD 异质性的神经机制提供了宝贵的见解。
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引用次数: 0
Language growth in verbal autistic children from 5 to 11 years. 5至11岁语言自闭症儿童的语言成长。
Amanda Brignell, Katrina J Williams, Sheena Reilly, Angela T Morgan

To examine predictors and growth in language for verbal autistic and non-autistic children with/without low language from 4 to 11 years. Receptive and expressive language trajectories were compared in a community sample of 1026 children at ages 5, 7, and 11 years, across four groups: two autistic groups; one with and one without low language; and two non-autistic groups; one with and one without low language. Groups were delineated on baseline assessment at 4 years. Non-autistic and autistic children with low language had lower mean expressive language scores than the non-autistic typical language group (22.26 and 38.53 units lower, respectively, p < 0.001), yet demonstrated faster language growth across 5 to 11 years (p < 0.001 and p = 0.002, respectively). Both groups without low language had similar mean expressive language scores (p = 0.864) and a comparable rate of growth (p = 0.645). Language at 4 years was the only consistent predictor of language at 11 years for autistic children. Results were similar for receptive language in all analyses except there was no significant difference in rate of progress (slope) for the autistic with low language group compared with the typical language group (p = 0.272). Findings suggest early language ability, rather than a diagnosis of autism, is key to determining language growth and outcomes at 11 years in verbal children. Furthermore, children with low language showed developmental acceleration compared with same age peers.

研究4至11岁语言能力低下的自闭症儿童和非自闭症儿童的语言能力预测和增长情况。在社区样本中,对 1026 名 5 岁、7 岁和 11 岁儿童的接受性和表达性语言轨迹进行了比较,共分为四组:两组自闭症儿童,一组有语言障碍,另一组无语言障碍;两组非自闭症儿童,一组有语言障碍,另一组无语言障碍。各组以 4 岁时的基线评估为依据。非自闭症儿童和语言能力低下的自闭症儿童的语言表达能力平均得分低于非自闭症典型语言组(分别低 22.26 个单位和 38.53 个单位,P<0.05)。
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引用次数: 0
Loneliness in daily life: A comparison between youths with autism spectrum disorders and 22q11.2 deletion syndrome (22q11DS). 日常生活中的孤独感:自闭症谱系障碍青少年与 22q11.2 缺失综合征 (22q11DS) 青少年的比较。
Clémence Feller, Laura Ilen, Stephan Eliez, Maude Schneider

Loneliness is a negative emotional experience that can stem from a gap between desires and the reality of social relationships. It is also a predictor of mental health. Loneliness is therefore important to investigate in neurodevelopmental populations known for having difficulties in the social sphere. This co-registered study involved 48 youths with autism spectrum disorders (ASD), 54 youths with 22q11.2 deletion syndrome (22q11DS) and 65 typically developing youths (TD) aged 12-30. State loneliness was assessed with an ecological momentary assessment. Paper-pencil questionnaires assessing attitude toward aloneness, trait loneliness, and mental health, were completed by the youths and their caregivers. A comparable level of state loneliness between clinical groups and TD were found, with greater loneliness when alone than in a social context. Clinical groups showed a greater intra-individual variability. Both individuals with ASD and 22q11DS revealed a greater affinity toward being alone than TD, but only individuals with ASD reported greater trait loneliness. However, no significant association was found between attitude toward aloneness, trait and state loneliness. Emotional reactivity to loneliness was different between the clinical groups. Self-reported mental health only was associated with loneliness in the clinical groups. These results provide new insights into the understanding of loneliness in these clinical populations and have an impact on clinical care by highlighting the need to remain vigilant when encountering youths who report feeling lonely, and that these youths need to be supported in developing their social network, which appears to be a protective factor against loneliness.

孤独是一种消极的情感体验,可能源于欲望与现实社会关系之间的差距。它也是心理健康的一个预测因素。因此,在社交困难的神经发育人群中调查孤独感非常重要。这项共同登记研究涉及 48 名患有自闭症谱系障碍(ASD)的青少年、54 名患有 22q11.2 缺失综合征(22q11DS)的青少年和 65 名 12-30 岁发育正常的青少年(TD)。孤独感通过生态瞬间评估进行评估。青少年及其照顾者还填写了纸笔问卷,评估对孤独的态度、特质孤独感和心理健康。结果发现,临床组和 TD 之间的孤独感水平相当,独处时的孤独感大于社交场合。临床组的个体内部差异更大。患有 ASD 和 22q11DS 的个体比患有 TD 的个体更容易感到孤独,但只有患有 ASD 的个体的特质孤独感更强。然而,在对孤独的态度、特质孤独感和状态孤独感之间并没有发现明显的关联。不同临床群体对孤独的情绪反应也不同。在临床组中,只有自我报告的心理健康与孤独感有关。这些结果为了解这些临床人群的孤独感提供了新的视角,并对临床护理产生了影响,因为这些结果强调了在遇到报告感到孤独的青少年时保持警惕的必要性,以及这些青少年需要在发展其社交网络方面得到支持,而社交网络似乎是防止孤独感的一个保护因素。
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引用次数: 0
Issue Information 问题信息
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引用次数: 0
Issue Information 问题信息
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引用次数: 0
Genetic mouse models of autism spectrum disorder present subtle heterogenous cardiac abnormalities 自闭症谱系障碍的遗传小鼠模型呈现微妙的异质心脏异常
Stephania Assimopoulos, C. Hammill, D. Fernandes, T. L. Spencer Noakes, Yu-Qing Zhou, L. Nutter, J. Ellegood, E. Anagnostou, J. Sled, J. Lerch
Background Autism Spectrum Disorder (ASD) and Congenital Heart Disease (CHD) are strongly linked on a functional and genetic level. Most work has been focused on neurodevelopmental abnormalities in CHD. Conversely, cardiac abnormalities in ASD have been less studied. In this work we investigate the prevalence of cardiac comorbidities relative to genetic contributors of ASD. Methods Using high frequency ultrasound imaging, we screened 9 mouse models with ASD-related genetic alterations (Arid1b(+/-), Chd8(+/-), 16p11.2 (deletion), Sgsh(+/-), Sgsh(-/-), Shank3 Δexon 4-9(+/-), Shank3 Δexon 4-9(-/-), Fmr1(-/-), Vps13b(+/-)), and pooled wild-type littermates (WT). Using a standardised imaging protocol, we measured heart rate (HR), aorta diameter (AoD), thickness and thickening of the left-ventricular (LV) anterior and posterior walls, LV chamber diameter, fractional shortening, stroke volume and cardiac output, Peak E and A velocity ratio of mitral inflow, Velocity Time Integral (VTI) through the ascending aorta. Results Mutant groups presented small-scale alterations in cardiac structure and function compared to WTs. A greater number of significant differences was observed among mutant groups than between mutant groups and WTs. Mutant groups differed primarily in measures of structure (LV chamber diameter and anterior wall thickness, HR, AoD). When compared to WTs, they differed in both structure and function (LV anterior wall thickness and thickening, chamber diameter and fractional shortening, HR). The mutant groups with most differences to WTs were 16p11.2 (deletion), Fmrl(-/-), Arid1b(+/-). Among mutant groups, the groups differing most from others were 16p11.2 (deletion), Sgsh(+/-), Fmrl(-/-). Our results broadly recapitulate the associated clinical findings. Limitations Various genetically driven cardiac abnormalities occur early in life, so repeating this work in non-adult mice may be valuable. To identify possible sex differences, we must extend this work to female mice. The downsampling procedure used (total correlation calculation) must be verified. Only indirect comparison between our results and clinical literature is possible due to differing study designs. Conclusions The characteristic heterogeneity of ASD was recapitulated in the observed cardiac phenotype. The type of measures (morphological, functional) mutant groups differ in can highlight common underlying mechanisms. Clinically, knowledge of cardiac abnormalities in ASD can be essential as even non-lethal cardiac abnormalities can impact normal development.
自闭症谱系障碍(ASD)和先天性心脏病(CHD)在功能和遗传水平上密切相关。大多数工作都集中在冠心病的神经发育异常上。相反,ASD的心脏异常研究较少。在这项工作中,我们调查了与ASD遗传因素相关的心脏合并症的患病率。方法采用高频超声成像技术,筛选了9只具有asd相关遗传改变的小鼠模型(Arid1b(+/-)、Chd8(+/-)、16p11.2(缺失)、Sgsh(+/-)、Sgsh(-/-)、Shank3 Δexon 4-9(+/-)、Shank3 Δexon 4-9(-/-)、Fmr1(-/-)、Vps13b(+/-))和野生型幼鼠(WT)。采用标准化的成像方案,我们测量了心率(HR)、主动脉直径(AoD)、左室(LV)前后壁的厚度和增厚、左室直径、分次缩短、搏气量和心输出量、二尖瓣流入的峰值E和a速度比、通过升主动脉的速度时间积分(VTI)。结果与WTs相比,突变组在心脏结构和功能上出现了小规模的改变。突变组之间的显著差异大于突变组与WTs之间的显著差异。突变组主要在结构测量(左室直径和前壁厚度,HR, AoD)上存在差异。与WTs相比,它们在结构和功能上都有所不同(左室前壁厚度和增厚,室径和分数缩短,HR)。与WTs差异最大的突变组为16p11.2(缺失)、Fmrl(-/-)、Arid1b(+/-)。在突变组中,与其他突变组差异最大的是16p11.2(缺失)、Sgsh(+/-)、Fmrl(-/-)。我们的结果大致概括了相关的临床发现。各种基因驱动的心脏异常发生在生命早期,因此在非成年小鼠中重复这项工作可能是有价值的。为了确定可能的性别差异,我们必须将这项工作扩展到雌性小鼠。必须验证所使用的下采样程序(总相关计算)。由于不同的研究设计,我们的结果和临床文献之间只能进行间接比较。结论观察到的心脏表型重现了ASD的特征异质性。测量类型(形态,功能)突变组的不同可以突出共同的潜在机制。在临床上,了解ASD的心脏异常是必要的,因为即使是非致命的心脏异常也会影响正常发育。
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引用次数: 2
The problem of heterogeneity in autism: Response to Mottron (2021) "Aradical change in our autism research strategy is needed: Back to prototypes". 自闭症的异质性问题:回应 Mottron (2021) "我们的自闭症研究战略需要彻底改变:回到原型"。
Lynn Waterhouse
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引用次数: 0
期刊
Autism research : official journal of the International Society for Autism Research
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