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The Language ENvironment Analysis (LENA) System in Toddlers With Early Indicators of Autism: Test–Retest Reliability and Convergent Validity With Clinical Language Assessments 幼儿孤独症早期指标的语言环境分析系统:临床语言评估的重测信度和趋同效度。
IF 5.6 2区 医学 Q1 BEHAVIORAL SCIENCES Pub Date : 2025-06-02 DOI: 10.1002/aur.70062
Nicole Nadwodny, Paul J. Yoder, Brooke R. Ingersoll, Allison L. Wainer, Wendy L. Stone, Abbey Eisenhower, Alice S. Carter, The RISE Research Network

Clinical language assessments often influence the types of services that autistic children are eligible to receive. However, these assessments often take place outside of the child's natural language environment. In this study, we assess the potential of using naturalistic language processing technology, the Language ENvironment Analysis (LENA) system, in clinical research. Within a sample of caregivers and autistic toddlers aged 16–33 months (N = 100), the current study examined associations between all LENA-generated variables and two clinical assessments of language: the Vineland Adaptive Behavior Scales, Third Edition: Communication Domain and the MacArthur Bates Communicative Development Inventories: Vocabulary Checklist. We also evaluated LENA test–retest reliability in a subsample of participants (n = 81). Some LENA-generated variables—specifically, the Conversational Turn Count, Vocal Productivity, and Automated Vocalization Assessment—exhibited small-to-moderate significant positive correlations with clinical language assessment variables. Additionally, all LENA-generated variables demonstrated moderate-to-good test–retest reliability within a 2-week period. To our knowledge, this is the first study that examines the psychometric properties of all LENA-generated variables in a single large sample. Findings show promising evidence of LENA's utility as a source of naturalistic language data for research with autistic toddlers.

Trial Registration: ClinicalTrials.gov identifier: NCT05114538 (“Improving the Part C Early Intervention Service Delivery System for Children with ASD”)

临床语言评估通常会影响自闭症儿童有资格获得的服务类型。然而,这些评估通常是在孩子的自然语言环境之外进行的。在这项研究中,我们评估了在临床研究中使用自然语言处理技术,语言环境分析(LENA)系统的潜力。在一个16-33个月的看护人和自闭症幼儿(N = 100)的样本中,目前的研究检查了所有lena产生的变量与两种语言临床评估之间的关系:Vineland适应行为量表,第三版:沟通领域和麦克阿瑟贝茨交际发展量表:词汇清单。我们还在参与者的子样本(n = 81)中评估了LENA重测信度。一些lena生成的变量——特别是会话回合数、发声效率和自动发声评估——与临床语言评估变量表现出小到中等程度的显著正相关。此外,lena生成的所有变量在2周内均表现出中等至良好的重测信度。据我们所知,这是第一个在单个大样本中检验所有lena生成变量的心理测量特性的研究。研究结果显示了LENA作为研究自闭症幼儿的自然语言数据来源的有用证据。试验注册:ClinicalTrials.gov识别码:NCT05114538(“改善ASD儿童C部分早期干预服务提供系统”)。
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引用次数: 0
Sleep–Wake Cycle and Circadian Misalignment in People With Autism Across the Lifespan With an Emphasis on Living Conditions 自闭症患者一生中睡眠-觉醒周期和昼夜节律失调与生活条件的关系
IF 5.3 2区 医学 Q1 BEHAVIORAL SCIENCES Pub Date : 2025-06-02 DOI: 10.1002/aur.70058
Elena Martínez-Cayuelas, Ana María García-Muñoz, María Luisa Sánchez de Ocaña-Moreno, Amanda L. Richdale, Laura Gisbert-Gustemps, Jorge Lugo-Marín, Beatriz Rodríguez-Morillas, Ana María Peiró-Peiró, Desirée Victoria-Montesinos, Cristina López-Anguas, María Dolores Meseguer-Illán, Pura Ballester-Navarro

Sleep problems among individuals with autism spectrum disorder (ASD) are a persistent issue that spans from early childhood to adulthood. The present study aimed to objectively investigate sleep continuity and alignment using ambulatory circadian monitoring (ACM) in a group of autistic individuals, with and without intellectual disabilities. We studied 214 participants. Sleep continuity and alignment were assessed using a minimum of 3 days of ACM. Participants were divided into four groups: (1) age < 10 years (n = 40, 87.5% males, M = 6.78 ± 1.40 years), (2) age 10–17 years (n = 53, 90.6% males, M = 12.62 ± 2.04 years), (3) age 18–27 years (n = 59, 74.6% males, M = 23.50 ± 2.60 years), and (4) age 28–65 years (n = 62, 74.2% males, M = 39.04 ± 9.49 years). All groups had significantly impaired sleep outcomes, except for TST. Adults had longer SOL and WASO duration, than children and adolescents. However, those differences were attenuated if participants ‘percentages of sleep parameters within normal range’ were compared. When evaluating circadian misalignment, sleep M5 is delayed in children and adolescents (2:56 am and 3:00 am, respectively), and strongly advanced in the older adults (group 4). Sleep problems that manifest in autism during childhood can endure throughout adulthood. Furthermore, there is a necessity to investigate how living conditions, such as enforced schedules in residential facilities, can influence the timing of the sleep midpoint.

自闭症谱系障碍(ASD)患者的睡眠问题是一个持续存在的问题,从儿童早期一直持续到成年。本研究旨在利用动态昼夜节律监测(ACM)客观地调查一组患有和不患有智力障碍的自闭症患者的睡眠连续性和一致性。我们研究了214名参与者。使用至少3天的ACM评估睡眠连续性和对齐。参与者分为四组:(1)年龄
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引用次数: 0
Identifying Daily Living Skills From Childhood and Adolescence Predictive of Adult Outcomes in a Longitudinal Study of Autism and Related Developmental Conditions 在自闭症和相关发育条件的纵向研究中,确定童年和青春期的日常生活技能对成年结局的预测。
IF 5.3 2区 医学 Q1 BEHAVIORAL SCIENCES Pub Date : 2025-05-30 DOI: 10.1002/aur.70056
Elaine B. Clarke, Catherine Lord

Challenges in daily living skills (DLS) are well-documented in autism and other developmental conditions. Research has also cataloged challenges in adult outcome attainment among autistic individuals and those with other developmental conditions; stronger DLS are associated with a higher likelihood of attaining some adult outcomes. Little work has examined whether competency in specific DLS increases the likelihood of attaining adult outcomes. The current study examined mean item set scores from the DLS domain of the first and second editions of the Vineland Adaptive Behavior Scales (VABS) in a sample (n = 230) drawn from a well-characterized longitudinal cohort. Differences in growth patterns in DLS item set scores based on cognitive ability were examined from ages 5–18. The utility of DLS item set scores from ages 5, 9, 14, and 18 for predicting adult employment, relationship, living, and well-being outcomes at approximately age 33 was then tested. For all participants, DLS item sets from the community subdomain (i.e., eating out skills, pre-job skills) were low throughout childhood and showed the least growth over time. For participants with IQ < 70, personal subdomain item sets (i.e., bathing, health) had the most predictive utility. For participants with IQ > 70, community subdomain item sets had the most predictive utility. Competency in personal DLS may promote positive outcomes for autistic individuals with IQ < 70; competency in community DLS may be more important to supporting outcomes for autistic individuals with average or higher IQ. These results could inform interventions intended to promote adult success.

日常生活技能(DLS)的挑战在自闭症和其他发育条件中得到了充分的证明。研究还列出了自闭症患者和其他发育障碍患者在成人成就方面面临的挑战;较强的DLS与获得某些成人结果的可能性较高有关。很少有人研究特定DLS的能力是否会增加获得成人成就的可能性。本研究从纵向队列中抽取样本(n = 230),对第一版和第二版Vineland适应行为量表(VABS)的DLS域的平均项目集得分进行了检验。研究了5-18岁儿童DLS项目集得分在认知能力方面的差异。然后测试了5岁、9岁、14岁和18岁的DLS项目集得分在预测33岁左右成人就业、关系、生活和幸福结果方面的效用。对于所有参与者来说,来自社区子领域的DLS项目集(即外出就餐技能,工作前技能)在整个童年时期都很低,随着时间的推移增长最少。对于IQ为70的参与者,社区子域项目集具有最具预测性的效用。个人DLS的能力可能会促进具有智商的自闭症患者的积极结果
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引用次数: 0
Maternal Touch During Mother–Infant Interactions in Infants With and Without an Elevated Likelihood for Autism: Links With Symptom-Level Difficulties of Maternal Psychological Stress 在有或没有自闭症可能性升高的婴儿中,母婴互动中的母亲触摸:与母亲心理压力的症状水平困难的联系。
IF 5.3 2区 医学 Q1 BEHAVIORAL SCIENCES Pub Date : 2025-05-30 DOI: 10.1002/aur.70067
J. Siew, P. Warreyn, F. Moerman, T. Van Lierde, A. Zanatta, H. Roeyers

Infants at elevated likelihood for autism (EL infants) have varied developmental outcomes. This exposes parents to a unique parenting journey, and in some, heightened psychological stress. This study investigated how maternal psychological stress is linked to variations in mother–infant interactions, specifically touch. We focused on mothers of EL infants, including infants with an older autistic sibling and infants born preterm (< 30 weeks), as well as mothers of infants at typical likelihood for autism (TL infants). At 10 months, maternal touch was coded during mother–infant interactions (n = 100) and psychological stress was measured using the Brief Symptom Inventory (n = 108). Results showed that mothers of sibling infants (n = 44) reported higher depressive symptoms compared to mothers of TL infants (n = 22). Mothers of preterm infants (n = 39) used less affectionate and caregiving touch and had shorter total touch duration, compared to mothers of TL infants (n = 20), and to a lesser extent, mothers of sibling infants (n = 41). In addition, mothers of sibling infants exhibited more high-intensity touch than both mothers of preterm and TL infants. Notably, increased depressive symptoms were associated with decreased touch duration in mothers of sibling (n = 41) and preterm infants (n = 39) only. These findings underscore the complex relationship between maternal depressive symptoms and maternal use of touch.

自闭症可能性高的婴儿(EL婴儿)有不同的发育结果。这让父母们经历了一段独特的养育之旅,在某些情况下,心理压力会增加。这项研究调查了母亲的心理压力是如何与母婴互动,特别是触摸的变化联系起来的。我们关注的是EL婴儿的母亲,包括有较大自闭症兄弟姐妹的婴儿和早产婴儿(
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引用次数: 0
Developing Inner Speech to Help Autistic Individuals Improve Their Self-Regulation Ability: A Pilot Randomized-Controlled Trial 发展内在言语帮助自闭症个体提高自我调节能力:一项先导随机对照试验。
IF 5.3 2区 医学 Q1 BEHAVIORAL SCIENCES Pub Date : 2025-05-30 DOI: 10.1002/aur.70053
Barbara L. Baumann, Janice Nathan, Barry R. Nathan, Miriam Sheynblyum, Valire Carr Copeland, Carla A. Mazefsky, Shaun M. Eack

Some autistic children often have difficulty regulating their emotions. This pilot study evaluated the effectiveness of an intervention to reduce emotional dysregulation by developing inner speech in autistic children. The therapy is called Thinking in Speech (TiS). Nine certified speech-language pathologists were trained remotely. They, in turn, remotely administered TiS to 22 autistic children. Participating children were randomly assigned to either a therapy immediate or a waitlist control condition. Both groups received sixteen 30-min therapy sessions over 8–10 weeks. Parents rated the amount of emotional dysregulation on three measures before the intervention and after the sixteen 30-min therapy sessions. Results showed significant results on the Emotion Dysregulation Inventory-Dysphoria Scale (F = 5.49, n = 11, p = 0.008), and marginally significant results on the Emotion Dysregulation Inventory Index Regulation Index-Reactivity Scale (F = 2.57, n = 11, p = 0.089). Such findings suggest a potential impact of developing inner speech to reduce emotion dysregulation in autistic children.

一些自闭症儿童经常难以控制自己的情绪。本初步研究评估了通过发展自闭症儿童的内心语言来减少情绪失调的干预效果。这种疗法被称为言语思考(TiS)。9名认证的语言病理学家接受了远程培训。然后,他们对22名自闭症儿童进行远程治疗。参与研究的儿童被随机分配到立即治疗组或候补控制组。两组在8-10周内接受16次30分钟的治疗。在干预之前和16次30分钟的治疗之后,家长们用三项指标来评估情绪失调的程度。结果显示情绪失调量表-焦虑量表结果显著(F = 5.49, n = 11, p = 0.008),情绪失调量表-反应量表结果轻微显著(F = 2.57, n = 11, p = 0.089)。这些发现表明,发展内心语言对减少自闭症儿童的情绪失调有潜在的影响。
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引用次数: 0
Prospective Memory Performance of Autistic Adults in Everyday Life: The Role of Stress and Motivation 自闭症成人在日常生活中的前瞻记忆表现:压力和动机的作用。
IF 5.3 2区 医学 Q1 BEHAVIORAL SCIENCES Pub Date : 2025-05-29 DOI: 10.1002/aur.70057
Larissa L. Faustmann, Mareike Altgassen

Prospective memory (PM) is the ability to remember to carry out intended actions in the future. The present study investigated the PM performance of autistic adults in everyday life. A total of 29 autistic participants and 30 controls matched for age, gender, and cognitive abilities completed various PM tasks (time-based vs. event-based; externally-assigned vs. self-assigned), integrated into a three-day Experience Sampling Method (ESM) assessment. The ESM survey assessed other activities performed during the 3 days, participants' motivation, daily routine, and perceived daily-life stress. No group differences were found between autistic and control participants in any of the various PM tasks. Autistic participants did not differ from control participants in the types of everyday activities performed or in motivation, but showed higher levels of perceived stress. This is the first study to investigate PM performance of autistic individuals in everyday life. The results suggest that autistic adults show no PM difficulties in naturalistic PM tasks.

前瞻记忆(PM)是一种记住在未来进行预期行动的能力。本研究调查了自闭症成人在日常生活中的PM表现。共有29名自闭症参与者和30名年龄、性别和认知能力相匹配的对照组完成了各种PM任务(基于时间vs基于事件;外部分配与自我分配),整合到为期三天的经验抽样方法(ESM)评估中。ESM调查评估了在3天内进行的其他活动、参与者的动机、日常生活和感知到的日常生活压力。在任何不同的PM任务中,自闭症参与者和对照组参与者之间没有发现组差异。自闭症参与者在日常活动的类型或动机方面与对照组参与者没有什么不同,但表现出更高水平的感知压力。这是首次研究自闭症患者在日常生活中的PM表现。结果表明,自闭症成年人在自然的PM任务中没有PM困难。
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引用次数: 0
Changes in Early Aperiodic EEG Activity Are Linked to Autism Diagnosis and Language Development in Infants With Family History of Autism 有自闭症家族史的婴儿早期非周期性脑电图活动的变化与自闭症诊断和语言发展有关
IF 5.3 2区 医学 Q1 BEHAVIORAL SCIENCES Pub Date : 2025-05-26 DOI: 10.1002/aur.70063
Carol L. Wilkinson, Haerin Chung, Amy Dave, Helen Tager-Flusberg, Charles A. Nelson

Delays in language often co-occur among toddlers diagnosed with autism. Despite the high prevalence of language delays, the neurobiology underlying such language challenges remains unclear. Prior research has shown reduced EEG power across multiple frequency bands in 3-to-6-month-old infants with an autistic sibling, followed by accelerated increases in power with age. In this study, we decompose the power spectra into aperiodic (broad band neural firing) and periodic (oscillations) activity to explore possible links between aperiodic changes in the first year of life and later language outcomes. Combining EEG data across two longitudinal studies of infants with and without autistic siblings, we assessed whether infants with an elevated familial likelihood (EFL) exhibit altered changes in both periodic and aperiodic EEG activity at 3 and 12 months of age, compared to those with a low likelihood (LL), and whether developmental change in activity is associated with language development. At 3 months of age (n = LL 59, EFL 57), we observed that EFL infants have significantly lower aperiodic activity from 6.7 to 55 Hz (p < 0.05). However, change in aperiodic activity from 3 to 12 months was significantly increased in infants with a later diagnosis of autism, compared to EFL infants without an autism diagnosis (n = LL-NoASD 41, EFL-noASD 16, EFL-ASD 16). In addition, greater increases in aperiodic offset and slope from 3 to 12 months were associated with worse language development measured at 18 months (n = 24). Findings suggest that early age-dependent changes in EEG aperiodic power may serve as potential indicators of autism and language development in infants with a family history of autism.

被诊断为自闭症的幼儿往往同时出现语言迟缓。尽管语言迟缓非常普遍,但这种语言障碍背后的神经生物学机制仍不清楚。先前的研究表明,有自闭症兄弟姐妹的3到6个月大的婴儿在多个频段上的脑电图功率会降低,随后随着年龄的增长,功率会加速增加。在这项研究中,我们将功率谱分解为非周期性(宽带神经放电)和周期性(振荡)活动,以探索生命第一年的非周期性变化与后来的语言结果之间的可能联系。结合两项纵向研究中有和没有自闭症兄弟姐妹的婴儿的脑电图数据,我们评估了与低可能性(LL)的婴儿相比,家庭可能性(EFL)升高的婴儿在3个月和12个月时是否在周期性和非周期性脑电图活动中表现出改变,以及活动的发育变化是否与语言发育有关。在3个月大时(n = LL 59, EFL 57),我们观察到EFL婴儿的非周期活动显著降低,从6.7到55 Hz (p
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引用次数: 0
Factor Structure and Psychometric Properties of the Child Social Preference Scale-3 in Children With Autism 孤独症儿童社会偏好量表-3的因素结构和心理测量特征。
IF 5.3 2区 医学 Q1 BEHAVIORAL SCIENCES Pub Date : 2025-05-26 DOI: 10.1002/aur.70059
Lacey Chetcuti, Antonio Y. Hardan, Emily Spackman, Emma Baker, Thomas W. Frazier, Mirko Uljarevic

Considerable variability in social engagement among individuals with autism is well documented. Since multiple processes may contribute to this heterogeneity, validating tools to assess these differences is crucial. Originally developed in the general population, the Child Social Preference Scale (CSPS-3) aims to assess distinct forms of social disengagement arising from different combinations of approach and avoidance motivations and holds promise for delineating variability in social behaviors within autism spectrum disorder (ASD). This study investigated the factor structure and psychometric properties of the CSPS-3 in a sample of 689 children diagnosed with autism (Mage = 11.23, SD = 3.56; 76% male). The results suggest that a bifactor model, consisting of a general factor and three subscales (shyness, unsociability, and social avoidance), provided the best fit to the data, with the general factor accounting for most of the variance. While the subscales demonstrated adequate internal consistency, their construct reliability and stability varied, with much of the reliable variance attributed to the general factor. The structure was consistent across age and sex subgroups, and the subscales showed distinct patterns of associations with key clinical correlates. These findings support the CSPS-3's utility in assessing diverse forms of social disengagement in the autism population, while indicating that the subscales could be refined to better capture their unique aspects.

自闭症患者的社会参与有相当大的差异,这是有据可查的。由于多个过程可能导致这种异质性,因此评估这些差异的验证工具至关重要。儿童社会偏好量表(CSPS-3)最初是在普通人群中开发的,旨在评估由不同的接近和回避动机组合引起的不同形式的社会脱离,并有望描述自闭症谱系障碍(ASD)中社会行为的可变性。本研究调查了689例自闭症儿童CSPS-3量表的因子结构和心理测量特征(Mage = 11.23, SD = 3.56;76%的男性)。结果表明,由一个一般因素和三个子尺度(害羞、不社交和社交回避)组成的双因素模型最适合数据,其中一般因素占了大部分方差。虽然子量表表现出足够的内部一致性,但它们的结构可靠性和稳定性各不相同,其中大部分可靠方差归因于一般因素。该结构在不同年龄和性别的亚组中是一致的,并且亚量表显示出与关键临床相关因素的不同关联模式。这些发现支持了CSPS-3在评估自闭症人群中各种形式的社会脱离方面的效用,同时表明这些子量表可以被改进以更好地捕捉他们独特的方面。
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引用次数: 0
Feedback-Driven Learning Through Eye Movements in Autism Spectrum Disorder 自闭症谱系障碍中通过眼球运动的反馈驱动学习。
IF 5.3 2区 医学 Q1 BEHAVIORAL SCIENCES Pub Date : 2025-05-26 DOI: 10.1002/aur.70060
Ian Simpson, David Saldaña, Mila Vulchanova, Maria Luisa Scattoni, Martina Micai

Individuals with Autism Spectrum Disorder (ASD) face challenges in cognitive flexibility and rule-shifting. This study investigated a computerized Wisconsin Card Sorting Task (WCST) paired with eye-tracking to understand the cognitive dynamics of set-shifting difficulties in autistic children and adolescents. The study included 21 Spanish-speaking autistic children and adolescents (mean age: 14.5 years) and 22 typically developing peers (mean age: 15.1), matched by gender, age, language, working memory, and intelligence. Participants sorted cards by number, color, or shape, receiving feedback after each trial. The sorting criterion changed after 10 correct responses without participants' prior knowledge. The task included 128 trials, followed by three strategy-related verbal questions. Behavioral and eye movement data showed that the autistic group performed worse, completing fewer sets and making more errors. Both groups had increased fixations and dwell time after feedback, but controls had a greater increase after incorrect responses. Autistic individuals may struggle with error monitoring and response inhibition, impacting their adaptability and less efficient learning of sorting rules. They engaged less in error analysis and correction than controls. Targeted interventions to enhance feedback processing and adaptive learning strategies could benefit autistic individuals. Future research should explore mechanisms behind eye-movement differences and the effectiveness of related interventions.

自闭症谱系障碍(ASD)患者在认知灵活性和规则转移方面面临挑战。本研究采用计算机威斯康星卡片分类任务(WCST)与眼动追踪相结合的方法来了解自闭症儿童和青少年设置转移困难的认知动态。这项研究包括21名说西班牙语的自闭症儿童和青少年(平均年龄:14.5岁)和22名正常发育的同龄人(平均年龄:15.1岁),按性别、年龄、语言、工作记忆和智力进行匹配。参与者按数字、颜色或形状对卡片进行分类,并在每次试验后收到反馈。在受试者不知情的情况下,10次正确回答后排序标准发生变化。这项任务包括128个试验,然后是三个与策略相关的口头问题。行为和眼球运动数据显示,自闭症组的表现更差,完成的组更少,犯的错误更多。两组在反馈后都增加了注视和停留时间,但对照组在错误的回答后增加了更多。自闭症患者可能会在错误监控和反应抑制方面挣扎,这影响了他们的适应能力,也降低了他们学习分类规则的效率。与对照组相比,他们较少进行错误分析和纠正。有针对性的干预提高反馈处理和适应性学习策略可能有利于自闭症患者。未来的研究应进一步探讨眼动差异背后的机制以及相关干预措施的有效性。
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引用次数: 0
Introduction to the Special Section on the Genetics of Autism 自闭症遗传学专区。
IF 5.3 2区 医学 Q1 BEHAVIORAL SCIENCES Pub Date : 2025-05-22 DOI: 10.1002/aur.70064
Genevieve Konopka
<p>Genetic contributions to the etiology of autism have long been recognized in autism research. However, many aspects of how genetic and genomic factors influence the development and progression of autism remain poorly understood and require further investigation. A wide range of approaches can be employed in this pursuit, including studies of human cohorts, model systems, and detailed mechanistic research at both cellular and organismal levels. To broaden the scope of studies published in <i>Autism Research</i> related to the genetics of autism, we issued a call for manuscripts to be included in a special issue. Here, we present six comprehensive studies that utilize diverse approaches to investigate the genetic mechanisms underlying autism. Two of these studies (Arutiunian et al. <span>2025</span>; Hudac et al. <span>2025</span>) focused primarily on human subjects. One of them (Hudac et al. <span>2025</span>) examined visual and auditory attention in autistic individuals with monogenic forms of autism—carrying variants in either <i>DYRK1A</i> or <i>SCN2A</i>—using eye tracking and electroencephalography (EEG). They found distinct behavioral outcomes depending on the specific genetic variant. The other study (Arutiunian et al. <span>2025</span>) investigated a separate cohort of autistic individuals with a particular single nucleotide polymorphism in <i>CNTNAP2</i>, identifying an association with language impairments. Three manuscripts (He et al. <span>2025</span>; Nishizaki et al. <span>2025</span>; Rojas et al. <span>2025</span>) combined research in both human subjects and model systems. One study (He et al. <span>2025</span>) discovered novel de novo variants in <i>NAA15</i> associated with autism and conducted detailed studies in loss-of-function mouse models, revealing a role for NAA15 in early brain development. Another study (Nishizaki et al. <span>2025</span>) identified new genes associated with autism spectrum disorder with disproportionate megalencephaly (ASD-DM) in human cohorts and explored the function of one of these genes, <i>YTHDF2</i>, in zebrafish models. Their findings showed changes in brain size and gene expression patterns consistent with the observed phenotypes. The third manuscript (Rojas et al. <span>2025</span>) reported altered levels of mitochondrial DNA (mtDNA) in individuals with autism and used cell lines to investigate the role of specific genes involved in mtDNA replication, although no direct correlation was found between gene expression and mtDNA levels. Finally, one other report (Co et al. <span>2025</span>) characterized the functional implications of a specific mouse genetic tool related to the high-confidence autism gene <i>TBR1</i>. They found that this mouse line, while originally designed for another purpose, inadvertently provides a valuable model for studying <i>TBR1</i> dosage effects on brain development. Collectively, these studies highlight the diverse genetic approaches being used to advance
在自闭症研究中,遗传因素对自闭症病因的影响早已被认识到。然而,遗传和基因组因素如何影响自闭症的发展和进展的许多方面仍然知之甚少,需要进一步的研究。在这种追求中,可以采用广泛的方法,包括对人类群体的研究,模型系统,以及细胞和组织水平上的详细机制研究。为了扩大在《自闭症研究》上发表的与自闭症遗传学相关的研究范围,我们发布了一项征稿,要求将其纳入特刊。在这里,我们提出了六项综合研究,利用不同的方法来调查自闭症的遗传机制。其中两项研究(Arutiunian et al. 2025;Hudac et al. 2025)主要关注人类受试者。其中一项研究(Hudac et al. 2025)使用眼动追踪和脑电图(EEG)检查了携带DYRK1A或scn2a单基因自闭症变体的自闭症个体的视觉和听觉注意力。他们发现不同的行为结果取决于特定的基因变异。另一项研究(Arutiunian et al. 2025)调查了一组单独的自闭症患者,他们在CNTNAP2中具有特定的单核苷酸多态性,确定了与语言障碍的关联。三篇手稿(He et al. 2025;Nishizaki et al. 2025;Rojas et al. 2025)结合了人类受试者和模型系统的研究。一项研究(He et al. 2025)发现了与自闭症相关的NAA15新的从头变异,并在功能丧失小鼠模型中进行了详细研究,揭示了NAA15在早期大脑发育中的作用。另一项研究(Nishizaki et al. 2025)在人类队列中发现了与自闭症谱系障碍伴不成比例巨脑畸形(ASD-DM)相关的新基因,并探索了其中一种基因YTHDF2在斑马鱼模型中的功能。他们的发现表明,大脑大小和基因表达模式的变化与观察到的表型一致。第三篇论文(Rojas et al. 2025)报道了自闭症患者线粒体DNA (mtDNA)水平的改变,并利用细胞系研究了参与mtDNA复制的特定基因的作用,尽管没有发现基因表达与mtDNA水平之间的直接相关性。最后,另一份报告(Co et al. 2025)描述了与高可信度自闭症基因TBR1相关的特定小鼠遗传工具的功能含义。他们发现,虽然这个小鼠系最初是为了其他目的而设计的,但无意中为研究TBR1剂量对大脑发育的影响提供了一个有价值的模型。总的来说,这些研究突出了用于促进我们对自闭症生物学理解的各种遗传方法。自闭症研究的编辑团队仍然致力于扩大我们发表的基因研究的范围,并鼓励研究人员提交他们的手稿供考虑。作者声明无利益冲突。
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