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Metaphor comprehension and production in verbally able children with Autism Spectrum Disorder. 自闭症谱系障碍儿童对隐喻的理解和创作。
Stella Lampri, Eleni Peristeri, Theodoros Marinis, Maria Andreou

Research in the field of figurative language processing in Autism Spectrum Disorders (ASD) has demonstrated that autistic individuals experience systematic difficulties in the comprehension of different types of metaphors. However, there is scarce evidence regarding metaphor production skills in ASD. Importantly, the exact source of metaphor processing difficulties in ASD remains largely controversial. The debate has mainly focused on the mediating role of structural language skills (i.e., lexical knowledge) and cognitive abilities (i.e., Theory of Mind and executive functions) in ASD individuals' ability to comprehend and generate metaphors. The present study examines metaphor comprehension and production in 18 Greek-speaking verbally able children with ASD and 31 typically-developing (TD) controls. Participants completed two tasks, namely, a low-verbal multiple-choice sentence-picture matching task that tested their ability to comprehend conventional predicate metaphors, and a sentence continuation task that assessed their ability to generate metaphors. The study also included measures of fluid intelligence, expressive vocabulary, and working memory within the sample. The results show that the ASD group had significantly lower performance than the TD group in both metaphor comprehension and production. The findings also reveal that expressive vocabulary skills were a key factor in the metaphor comprehension and production performance of the children with ASD. Working memory capacity was also found to correlate significantly with metaphor comprehension performance in the ASD group. Conversely, no correlations were found in the TD group with neither of the above factors. Of note, children with ASD generated significantly more inappropriate responses and no-responses to the metaphor production task compared with the control group. The overall results reveal that children with ASD had difficulty with both comprehending and using metaphorical language. The findings also indicate that TD children may employ diverse cognitive strategies or rely on different underlying skills when processing metaphors compared with children with ASD.

自闭症谱系障碍(ASD)中形象语言处理领域的研究表明,自闭症患者在理解不同类型的隐喻时会遇到系统性的困难。然而,有关自闭症患者隐喻产生技能的证据却很少。重要的是,自闭症患者隐喻加工困难的确切来源在很大程度上仍存在争议。争论的焦点主要集中在结构性语言技能(即词汇知识)和认知能力(即心智理论和执行功能)在 ASD 患者理解和产生隐喻的能力中所起的中介作用。本研究考察了 18 名希腊语言语能力强的 ASD 儿童和 31 名发育正常 (TD) 对照组儿童的隐喻理解和生成能力。受试者完成了两项任务,即测试他们理解传统谓词隐喻能力的低语言多选句子-图片匹配任务,以及评估他们生成隐喻能力的续句任务。研究还对样本中的流体智力、词汇表达能力和工作记忆进行了测量。结果显示,ASD 组在隐喻理解和生成方面的表现明显低于 TD 组。研究结果还显示,词汇表达能力是影响 ASD 儿童隐喻理解和创作能力的关键因素。研究还发现,工作记忆能力与 ASD 组的隐喻理解能力有显著相关性。相反,在 TD 组中,上述两个因素都没有相关性。值得注意的是,与对照组相比,ASD 儿童在隐喻制作任务中产生的不恰当反应和无反应明显更多。总体结果显示,患有 ASD 的儿童在理解和使用隐喻语言方面都存在困难。研究结果还表明,与 ASD 儿童相比,TD 儿童在处理隐喻时可能会采用不同的认知策略或依赖不同的基本技能。
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引用次数: 0
The relationship between distress tolerance and behavioral activation on anxiety and depression symptomatology in autistic youth: Leveraging self and caregiver perspectives. 自闭症青少年焦虑和抑郁症状的痛苦容忍度与行为激活之间的关系:从自我和照顾者的角度看问题。
Jessica M Schwartzman, Ligia Antezana, Caitlin M Conner

Anxiety and depression are prevalent among autistic adolescents and may be difficult to accurately diagnose and treat given various factors (e.g., diagnostic overshadowing, heterogeneity). Therefore, efforts to examine transdiagnostic factors (i.e., distress tolerance, behavioral activation) may afford more parsimonious means for assessment and treatment. To our knowledge, there has been little research on distress tolerance, behavioral activation, and depressive and anxiety symptoms in autistic adolescents to guide diagnostic practices and treatment planning. In the current study, we examined the interrelationships between these transdiagnostic factors and depressive and anxiety symptoms using ratings from 100 verbally fluent autistic adolescents without intellectual disability (Mage = 13.70, SDage = 2.23, Range: 11:00-17:11 years) and 100 of their caregivers. Many adolescents reported male sex assigned at birth (61%), cisgender (87%), not Hispanic/Latinx (90%), and White (80%) identities. A series of correlational analyses were employed to examine associations between these constructs from youth and caregiver perspectives, and multiple linear regression analyses were conducted to explore the mediating roles of distress tolerance and behavioral activation. Preliminary results show that low distress tolerance and behavioral activation were associated with more severe internalizing symptoms per self- and caregiver-report. Some differences by rater emerged, which highlight the importance of multi-informant ratings in autism. Results from mediation analyses may show that behavioral activation may be more salient to assessments and treatment planning for depression than distress tolerance, while distress tolerance may be important for both anxiety and depression; however, findings are preliminary given the cross-sectional nature of the data. Findings suggest that these transdiagnostic concepts may be important to individualizing treatment approaches, including the timing of certain approaches, for anxiety and/or depression in autistic adolescents.

焦虑和抑郁在自闭症青少年中很普遍,由于各种因素(如诊断阴影、异质性),可能难以准确诊断和治疗。因此,努力研究跨诊断因素(即痛苦耐受性、行为激活)可能会为评估和治疗提供更合理的方法。据我们所知,有关自闭症青少年的痛苦耐受性、行为激活、抑郁和焦虑症状的研究很少,因此无法为诊断实践和治疗计划提供指导。在本研究中,我们通过对 100 名言语流利、无智力障碍的自闭症青少年(平均年龄 = 13.70 岁,平均年龄 = 2.23 岁,年龄范围:11:00-17:11 岁)及其 100 名照顾者的评分,研究了这些跨诊断因素与抑郁和焦虑症状之间的相互关系。许多青少年表示,他们出生时的性别为男性(61%)、顺性别(87%)、非西班牙裔/拉丁裔(90%)和白人(80%)。我们采用了一系列相关分析,从青少年和照顾者的角度研究了这些概念之间的关联,并进行了多元线性回归分析,以探讨困扰容忍度和行为激活的中介作用。初步结果显示,根据自我和照顾者的报告,低痛苦容忍度和行为激活与更严重的内化症状有关。不同评分者之间也存在一些差异,这凸显了多信息评分在自闭症中的重要性。中介分析的结果可能表明,行为激活对于抑郁症的评估和治疗计划可能比痛苦耐受力更重要,而痛苦耐受力可能对焦虑和抑郁都很重要;然而,鉴于数据的横断面性质,研究结果还只是初步的。研究结果表明,这些跨诊断概念可能对自闭症青少年焦虑和/或抑郁的个性化治疗方法(包括某些方法的时机选择)非常重要。
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引用次数: 0
What do we know about autism and policing globally? Preliminary findings from an international effort to examine autism and the criminal justice system. 我们对全球自闭症和警务工作了解多少?自闭症与刑事司法系统国际研究的初步发现。
Dylan Cooper, Shelby Frisbie, Shufang Wang, Jonas Ventimiglia, Vicki Gibbs, Abigail M A Love, Melanie Mogavero, Teal W Benevides, Jordan M Hyatt, Kate Hooven, Icylee Basketbill, Lindsay Shea

Research has demonstrated that autistic individuals have higher rates of police contact, however, research has seldom explored the fundamental reasons for these interactions and how this might vary across international contexts. To remedy this, the Global Autism and Criminal Justice Consortium created and disseminated the Global Criminal Justice Survey. Descriptive statistics of survey respondents with and without police contact were compared to glean differential characteristics. Frequency and type of recent police interactions (within the last 5 years) among autistic individuals were also examined to better contextualize the reasons that autistic individuals encounter police. Study findings indicated that across a global sample (i.e., North America, Scandinavia, Europe, and Oceania) nearly half of all autistic individuals had an interaction with police and that those with a history of police contact were usually older, had higher educational qualifications, and were more likely to have a co-occurring mental health or developmental disorder. Among types of interactions, noncriminal encounters, such as welfare checks, traffic incidents, wandering, and behaviors associated with autism, were most common, followed by autistic individuals alleging a crime was committed against them. These findings offer important directions for future research and for targeted policy responses that can address the unique needs of autistic individuals within the justice system.

研究表明,自闭症患者与警察接触的比例较高,但研究很少探讨这些互动的根本原因,以及在不同的国际背景下可能存在的差异。为了弥补这一不足,全球自闭症与刑事司法联合会创建并发布了全球刑事司法调查。我们对与警察有接触和没有接触的调查对象进行了描述性统计比较,以收集不同的特征。此外,还研究了自闭症患者近期(过去 5 年内)与警方互动的频率和类型,以便更好地了解自闭症患者与警方接触的原因。研究结果表明,在全球样本(即北美、斯堪的纳维亚半岛、欧洲和大洋洲)中,近一半的自闭症患者与警方有过互动,而有过与警方接触史的自闭症患者通常年龄较大、学历较高,并且更有可能同时患有精神疾病或发育障碍。在互动类型中,福利检查、交通事故、游荡和与自闭症有关的行为等非刑事遭遇最为常见,其次是自闭症患者声称有人对他们实施了犯罪。这些发现为今后的研究和有针对性的政策应对提供了重要方向,可以满足自闭症患者在司法系统中的独特需求。
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引用次数: 0
Pupillary response during social emotion tasks in autism spectrum disorder. 自闭症谱系障碍患者在社交情感任务中的瞳孔反应。
Juei-Po Lee, Yi-Hsuan Chang, Yi-Li Tseng, Tai-Li Chou, Yi-Ling Chien

Autistic individuals encounter challenges in recognizing emotional expressions of others. Pupillary response has been proposed as an indicator of arousal dysregulation or cognitive load. The pupillary response of autistic individuals during socio-affective tasks remains unclear. This study investigated pupillary response in autistic adults when viewing emotional faces/eyes and recognizing emotions during the Reading the Mind in the Eyes Test (RMET) and watching interpersonal touch scenes in the social touch task. The study included 98 participants diagnosed with autism spectrum disorder and 37 typically developing controls (TD). Pupil size was measured using the Tobii X2-30 Eye Tracker. The results showed that autistic adults had larger maximal pupil sizes, smaller minimal pupil sizes, and greater change rates of pupil size, particularly during the RMET Eyes task. Clinical correlations revealed that attention switching difficulty positively correlated with mean pupil size in TD participants, while social communication deficits positively correlated with mean pupil size in autistic participants. In conclusion, our findings suggest atypical pupillary responses in autistic adults during socio-affective tasks, indicating heightened cognitive demand. Further investigation is necessary to understand the underlying mechanisms and their association with autistic traits.

自闭症患者在识别他人的情绪表达方面面临挑战。瞳孔反应被认为是唤醒失调或认知负荷的指标。自闭症患者在完成社会情感任务时的瞳孔反应仍不清楚。本研究调查了自闭症成人在 "从眼睛读懂心灵 "测试(RMET)中观看情绪化面孔/眼睛和识别情绪时的瞳孔反应,以及在 "社会接触 "任务中观看人际接触场景时的瞳孔反应。这项研究包括 98 名被诊断患有自闭症谱系障碍的参与者和 37 名发育正常的对照组(TD)。使用 Tobii X2-30 眼球追踪器测量了瞳孔大小。结果显示,自闭症成人的最大瞳孔尺寸较大,最小瞳孔尺寸较小,瞳孔尺寸变化率较大,尤其是在 RMET Eyes 任务中。临床相关性显示,注意力转换困难与 TD 参与者的平均瞳孔大小呈正相关,而自闭症参与者的社交沟通障碍与平均瞳孔大小呈正相关。总之,我们的研究结果表明,自闭症成人在社交情感任务中的瞳孔反应不典型,表明认知需求增加。要了解其潜在机制及其与自闭症特征的关联,还需要进一步的研究。
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引用次数: 0
Visual and auditory attention in individuals with DYRK1A and SCN2A disruptive variants. DYRK1A和SCN2A破坏性变体个体的视觉和听觉注意力。
Caitlin M Hudac, Kelsey Dommer, Monique Mahony, Trent D DesChamps, Brianna Cairney, Rachel Earl, Evangeline C Kurtz-Nelson, Jessica Bradshaw, Raphael A Bernier, Evan E Eichler, Emily Neuhaus, Sara Jane Webb, Frederick Shic

This preliminary study sought to assess biomarkers of attention using electroencephalography (EEG) and eye tracking in two ultra-rare monogenic populations associated with autism spectrum disorder (ASD). Relative to idiopathic ASD (n = 12) and neurotypical comparison (n = 49) groups, divergent attention profiles were observed for the monogenic groups, such that individuals with DYRK1A (n = 9) exhibited diminished auditory attention condition differences during an oddball EEG paradigm whereas individuals with SCN2A (n = 5) exhibited diminished visual attention condition differences noted by eye gaze tracking when viewing social interactions. Findings provide initial support for alignment of auditory and visual attention markers in idiopathic ASD and neurotypical development but not monogenic groups. These results support ongoing efforts to develop translational ASD biomarkers within the attention domain.

这项初步研究试图利用脑电图(EEG)和眼动追踪技术评估两个与自闭症谱系障碍(ASD)相关的超罕见单基因群体的注意力生物标志物。相对于特发性自闭症(n = 12)和神经畸形对比组(n = 49),单基因组观察到了不同的注意力特征,例如 DYRK1A 患者(n = 9)在奇球脑电图范式中表现出听觉注意力条件差异减弱,而 SCN2A 患者(n = 5)在观看社交互动时通过眼球注视跟踪观察到的视觉注意力条件差异减弱。研究结果初步支持了特发性 ASD 和神经发育异常群体中听觉和视觉注意力标记的一致性,但不支持单基因群体。这些结果支持了目前在注意力领域开发转化型 ASD 生物标记物的工作。
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引用次数: 0
Toward a functional classification for autism in adulthood. 为成年期自闭症制定功能分类法。
Kyle Sterrett, Elaine Clarke, Jane Nofer, Joseph Piven, Catherine Lord

Autism spectrum disorder (ASD) is a heterogeneous condition that affects development and functioning from infancy through adulthood. Efforts to parse the heterogeneity of the autism spectrum through subgroups such as Asperger's and Profound Autism have been controversial, and have consistently struggled with issues of reliability, validity, and interpretability. Nonetheless, methods for successfully identifying clinically meaningful subgroups within autism are needed to ensure that research, interventions, and services address the range of needs experienced by autistic individuals. The purpose of this study was to generate and test whether a simple set of questions, organized in a flowchart, could be used in clinical practice and research to differentiate meaningful subgroups based on individuals' level of functioning. Once generated, subgroups could also be compared to the recently proposed administrative category of Profound Autism and to groupings based on standardized adaptive measures. Ninety-seven adults with autism or related neurodevelopmental disorders participating in a longstanding longitudinal study, or their caregivers if they could not answer for themselves, completed phone interviews when the participants were ~30 years old. Information from these phone interviews was used to generate vignettes summarizing characteristics and aspects of the daily lives of each participant (e.g., language level, vocational activities, and social relationships). Three expert clinicians then used these vignettes to classify each participant based on their level of support needs. Meaningfully distinct subgroups within the sample were identified which could be reliably distinguished from one another. Implications of such categorizations and future directions are discussed.

自闭症谱系障碍(ASD)是一种影响婴儿期至成年期发育和功能的异质性疾病。通过亚群(如阿斯伯格症和深度自闭症)来解析自闭症谱系的异质性的努力一直存在争议,并且一直在可靠性、有效性和可解释性等问题上挣扎。然而,为了确保研究、干预和服务能够满足自闭症患者的各种需求,我们需要成功识别自闭症中具有临床意义的亚组的方法。本研究的目的是提出并测试在临床实践和研究中是否可以使用一组简单的问题(以流程图的形式组织)来根据个体的功能水平区分有意义的亚组。分组一旦产生,还可以与最近提出的 "深度自闭症 "行政类别以及基于标准化适应测量的分组进行比较。97 名患有自闭症或相关神经发育障碍的成年人参与了一项长期纵向研究,如果他们无法回答自己的问题,则由他们的照顾者在参与者约 30 岁时完成电话访谈。从这些电话访谈中获得的信息被用来制作小故事,总结每位参与者日常生活的特点和方面(如语言水平、职业活动和社会关系)。然后,三位专家临床医师根据这些小故事对每位受试者的支持需求水平进行分类。结果发现,样本中的不同亚群之间可以进行可靠的区分。本文讨论了这种分类的意义和未来发展方向。
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引用次数: 0
Memory strategies in autistic and older adults. 自闭症患者和老年人的记忆策略。
C Torenvliet, A P Groenman, E Van der Burg, R C Charlton, C J Hamilton, H M Geurts

Memory strategies in autistic adults seem to mimic strategies at older age, as both younger autistic and older non-autistic individuals use fewer semantic features in visual memory tasks. Therefore, the current study aims to investigate whether early differences in memory strategies lead to altered age-related effects in autism, particularly whether initial difficulties in strategy use become advantageous at older age (i.e., "protective aging"). A total of 147 participants across four groups (autistic younger/older, non-autistic younger/older) completed an online assessment. This assessment included a recognition version of the Visual Patterns Test (VPT) to evaluate semantic strategy use in visual memory, the Just Noticeable Difference (JND) size task for assessing visual processing, and the Multifactorial Memory Questionnaire to evaluate subjective memory functioning and strategy use (MMQ). Unexpectedly, all groups benefited from semantic features on the VPT, although the older groups performed less accurately and slower than the younger groups. The JND Size task showed no group differences. Autistic adults rated their MMQ memory as worse than non-autistic adults, despite reporting greater strategy use. These results indicate that cognitive strategies might be more similar between younger/older and autistic/non-autistic people than previously expected, although notable discrepancies between objective and subjective measures were present. They also substantiate previously reported parallel (i.e., similar) age-related effects between autistic and non-autistic people.

自闭症成人的记忆策略似乎与老年人的策略相似,因为无论是年轻的自闭症患者还是年长的非自闭症患者,在视觉记忆任务中使用的语义特征都较少。因此,本研究旨在探讨记忆策略的早期差异是否会导致自闭症患者年龄相关效应的改变,尤其是最初的策略使用困难是否会在老年时变得有利(即 "保护性老化")。四个组(自闭症年轻组/老年组、非自闭症年轻组/老年组)共 147 名参与者完成了在线评估。该评估包括用于评估视觉记忆中语义策略使用情况的识别版视觉模式测试(VPT)、用于评估视觉处理的 "可注意到的差异"(JND)大小任务,以及用于评估主观记忆功能和策略使用情况的多因素记忆问卷(MMQ)。出乎意料的是,所有组别都受益于 VPT 的语义特征,尽管老年组的表现不如年轻组准确和缓慢。JND 大小任务则没有显示出群体差异。尽管自闭症成人报告使用了更多的策略,但他们对自己的 MMQ 记忆的评价却比非自闭症成人差。这些结果表明,尽管客观测量和主观测量之间存在显著差异,但较年轻/较年长者以及自闭症/非自闭症患者之间的认知策略可能比之前预期的更为相似。这些结果还证实了之前报道的自闭症患者和非自闭症患者之间与年龄相关的平行效应(即相似效应)。
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引用次数: 0
Validating motor delays across the developmental coordination disorder-questionnaire and the Vineland adaptive behavior scales (VABS) in children with autism spectrum disorderASD: A SPARK dataset analysis. 验证自闭症谱系障碍儿童发育协调障碍问卷和文兰适应行为量表(VABS)中的运动延迟:SPARK 数据集分析。
A N Bhat

Motor delays in children with autism spectrum disorder (ASD) are being increasingly recognized using a brief screening tool, called the Developmental Coordination Disorder-Questionnaire (DCD-Q). Further validation of these motor delays using a more robust normed, developmental measure is clearly warranted. In this analysis, a nationally representative sample from the SPARK study was used wherein parents completed the DCD-Q and a more widely used developmental/adaptive functioning measure, called the Vineland Adaptive Behavior Scales (VABS); which comprises of various developmental domains including the motor domain (N = 2,644 completed the DCD-Q and VABS). Eighty two percent children with ASD had a motor delay based on their DCD-Q scores whereas 77% children with ASD had a motor delay based on their VABS motor domain scores. Approximately 70% children with ASD had concurrent motor delay on the DCD-Q and the VABS (i.e., positive predictive value of DCD-Q). Furthermore, there was 81.2% accuracy in reporting a risk/no risk of motor delay across both measures. Overall, these statistics align with the recent reports on proportions of children with ASD having motor delays. Parents of ~70% children with ASD are reporting motor delays that are corroborated across two different motor measures. This not only validates the motor delays reported based on the DCD-Q but also indicates the need for concurrent motor screening using both DCD-Q and VABS for better detection of motor delays in children with ASD. Only 10%-32% of the current SPARK sample received any physical or recreational therapies. This mismatch between presence of motor delays and the lack of access to motor services highlights the need for more motor intervention referrals for children with ASD.

越来越多的自闭症谱系障碍(ASD)患儿通过使用一种名为 "发育协调障碍问卷"(DCD-Q)的简易筛查工具来识别运动障碍。显然,有必要使用更可靠的规范化发育测量方法对这些运动迟缓进行进一步验证。在这项分析中,我们使用了 SPARK 研究中具有全国代表性的样本,其中家长填写了 DCD-Q 和一种更广泛使用的发育/适应功能测量方法,即文兰适应行为量表 (VABS);该量表由包括运动领域在内的多个发育领域组成(填写 DCD-Q 和 VABS 的人数为 2,644 人)。根据 DCD-Q 评分,82% 的 ASD 儿童有运动发育迟缓,而根据 VABS 运动领域评分,77% 的 ASD 儿童有运动发育迟缓。约 70% 的 ASD 儿童同时在 DCD-Q 和 VABS 中出现运动迟缓(即 DCD-Q 的阳性预测值)。此外,在这两项测量中,报告运动迟缓风险/无风险的准确率为 81.2%。总体而言,这些统计数据与最近有关 ASD 儿童运动迟缓比例的报告一致。约有 70% 的 ASD 儿童的家长都报告了运动迟缓,这在两种不同的运动测量中都得到了证实。这不仅验证了根据 DCD-Q 报告的运动迟缓,而且表明有必要同时使用 DCD-Q 和 VABS 进行运动筛查,以便更好地发现 ASD 儿童的运动迟缓。在目前的 SPARK 样本中,只有 10%-32% 的儿童接受过任何物理或娱乐疗法。运动迟缓的存在与缺乏运动服务之间的这种不匹配凸显了为 ASD 儿童提供更多运动干预转介服务的必要性。
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引用次数: 0
Visual mental imagery abilities in autism. 自闭症患者的视觉心理想象能力
C Bled, Q Guillon, L Mottron, I Soulieres, L Bouvet
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引用次数: 0
A common genetic variant in the Neurexin family member CNTNAP2 is related to language but not communication skills in youth with Autism Spectrum Disorder. 神经肽家族成员 CNTNAP2 的常见基因变异与自闭症谱系障碍青少年的语言能力有关,但与沟通能力无关。
Vardan Arutiunian, Megha Santhosh, Emily Neuhaus, Catherine A W Sullivan, Raphael A Bernier, Susan Y Bookheimer, Mirella Dapretto, Daniel H Geschwind, Allison Jack, James C McPartland, John D Van Horn, Kevin A Pelphrey, Abha R Gupta, Sara Jane Webb

One of the candidate genes related to language variability in individuals with Autism Spectrum Disorder (ASD) is the contactin-associated protein-like 2 gene (CNTNAP2), a member of the Neurexin family. However, due to the different assessment tools used, it is unknown whether the polymorphisms of the CNTNAP2 gene are linked to structural language skills or more general communication abilities. A total of 302 youth aged 7 to 18 years participated in the present study: 131 verbal youth with ASD (62 female), 130 typically developing (TD) youth (64 female), and 41 unaffected siblings (US) of youth with ASD (25 female). Blood samples were collected to obtain genomic DNA and processed by the Rutgers University Cell and Data Repository or using standard protocols (Gentra Puregene Blood DNA extraction kit; Qiagen). Language and verbal communication skills were screened with the Clinical Evaluation of Language Fundamental-4 (CELF-4) and Vineland-II Communication domain, subsequently. The results showed that the polymorphism of CNTNAP2 (SNP rs2710102) was related to structural language abilities, such that participants carrying the A-allele had lower language skills in comparison to the G-allele homozygotes. No relationship was found between the polymorphism of CNTNAP2 and more general communication abilities. Although the study revealed genetic mechanisms that are associated with CELF-4 measures but not Vineland-II in youth with ASD, follow-up studies are needed that will include measures of language and communication that are less correlated to each other as well as will include a group of minimally and/or non-verbal individuals with ASD.

与自闭症谱系障碍(ASD)患者的语言变异有关的候选基因之一是接触蛋白相关蛋白样 2 基因(CNTNAP2),它是 Neurexin 家族的成员。然而,由于使用的评估工具不同,CNTNAP2 基因的多态性是与结构性语言技能有关,还是与更普遍的沟通能力有关,目前尚不得而知。共有 302 名 7 至 18 岁的青少年参与了本研究:其中包括 131 名患有自闭症的言语障碍青少年(62 名女性)、130 名发育典型(TD)青少年(64 名女性)以及 41 名患有自闭症的未受影响兄弟姐妹(US)(25 名女性)。采集血液样本以获得基因组 DNA,并由罗格斯大学细胞和数据储存库或采用标准方案(Gentra Puregene 血液 DNA 提取试剂盒;Qiagen)进行处理。随后,使用临床语言基础评估-4(CELF-4)和 Vineland-II 沟通域对语言和口头沟通能力进行了筛查。结果显示,CNTNAP2的多态性(SNP rs2710102)与结构性语言能力有关,携带A等位基因的参与者的语言能力低于携带G等位基因的同卵者。CNTNAP2 的多态性与更一般的沟通能力之间没有关系。尽管这项研究揭示了与 CELF-4 测量相关的遗传机制,但与患有 ASD 的青少年的 Vineland-II 无关,因此还需要进行后续研究,这些研究将包括相互关联度较低的语言和沟通测量,并将包括一组患有 ASD 的弱智和/或无语言能力的人。
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引用次数: 0
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Autism research : official journal of the International Society for Autism Research
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