Broad autism phenotype

广泛的自闭症表型
  • 文章类型: Journal Article
    叙事是分享个人经验和与他人联系的重要沟通技巧。叙事技能通常会影响自闭症谱系障碍(ASD),并对社交互动和人际关系产生重要影响。据报道,自闭症患者的一级亲属在叙述上也存在微妙的差异,这表明叙事也可能是一种病因学上重要的语言相关技能,受到与ASD相关的基因的影响。这项研究检查了ASD和患有ASD的个体(兄弟姐妹和父母)的一级亲属在叙事过程中的叙事能力和相关的视觉注意力,以了解叙事和相关的注意风格如何在ASD遗传影响的范围内受到不同的影响。参与者包括56名自闭症患者,42个自闭症患者的兄弟姐妹,49个控件,161名自闭症患者的父母,和61个父控件。使用眼球追踪器上呈现的无字图画书来记录同时的凝视,从而引起叙述。研究结果揭示了ASD和兄弟姐妹群体在使用因果语言连接故事元素以及使用认知和情感语言方面的叙事差异的平行模式。在ASD父母中,因果语言领域内存在更细微的差异。在叙述过程中,还发现了ASD和兄弟姐妹群体中的平行模式。研究结果表明,因果语言是一种关键的叙事技能,在ASD中受到影响,并且可能反映了亲属的ASD遗传影响。叙事过程中的凝视模式表明,ASD家庭中与叙事相关的注意机制相似。
    Narrative is an important communication skill for sharing personal experiences and connecting with others. Narrative skills are often impacted in autism spectrum disorder (ASD) and have important consequences for social interactions and relationships. Subtle differences in narrative have also been reported among first-degree relatives of autistic individuals, suggesting that narrative may also be an etiologically important language-related skill that is influenced by genes associated with ASD. This study examined narrative ability and related visual attention during narration in ASD and first-degree relatives of individuals with ASD (siblings and parents) to understand how narrative and related attentional styles may be variably impacted across the spectrum of ASD genetic influence. Participants included 56 autistic individuals, 42 siblings of autistic individuals, 49 controls, 161 parents of autistic individuals, and 61 parent controls. Narratives were elicited using a wordless picture book presented on an eye tracker to record concurrent gaze. Findings revealed parallel patterns of narrative differences among ASD and sibling groups in the use of causal language to connect story elements and the use of cognitive and affective language. More subtle differences within the domain of causal language were evident in ASD parents. Parallel patterns in the ASD and sibling groups were also found for gaze during narration. Findings implicate causal language as a critical narrative skill that is impacted in ASD and may be reflective of ASD genetic influence in relatives. Gaze patterns during narration suggest similar attentional mechanisms associated with narrative among ASD families.
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  • 文章类型: Journal Article
    检查自闭症谱系个体的非自闭症一级亲属的亚阈值自闭症特征,被称为广泛自闭症表型(BAP),可以为自闭症特征的关联和家族聚集提供新的见解。这项研究是一项对父母的回顾性横断面研究(n=1008),自闭症先证者(n=613),和自闭症先证者未受影响的兄弟姐妹(n=221)。通过父母的BAP问卷和成人沟通清单检查了BAP特征,自闭症发展观察量表-先证者第二版,和兄弟姐妹的社会反应量表。多变量线性回归分析用于研究先证者和未受影响的同胞BAP性状中父母BAP性状与自闭症性状的关联。父亲表现出明显的超然,语用语言困难,与母亲相比,社会参与问题。与男性兄弟姐妹相比,女性兄弟姐妹在社会认知方面表现出更多的困难。回归分析的调整模型显示,父亲的所有BAP性状与自闭症先证者的BAP性状表达显着相关。此外,所有母亲的BAP性状与未受影响的兄弟姐妹的BAP性状表达显着相关,而只有父亲的冷漠和僵化性状与兄弟姐妹的BAP性状表达呈负相关。最后,父母的BAP性状与其子女的BAP性状表达之间存在显著的反向相互作用。这项研究证明了男性和女性表达BAP特征的差异,并且还确定了性别在亲子关联方面的差异,父亲对先证者子女表达BAP特征的影响比母亲更大。
    Examining sub-threshold autistic traits in non-autistic first-degree relatives of individuals on the autism spectrum, known as the Broad Autism Phenotype (BAP), could provide new insights into the associations and familial aggregation of autistic traits. This study was a retrospective cross-sectional study of parents (n = 1008), probands with autism (n = 613), and unaffected siblings (n = 221) of probands with autism. BAP traits were examined by the BAP Questionnaire and Communication Checklist-Adult in parents, Autism Developmental Observation Scale-Second edition in probands, and Social Responsiveness Scale in siblings. Multivariable linear regression analyses were used to investigate the associations of parental BAP traits on autistic traits in probands and unaffected sibling BAP traits. Fathers showed significantly increased aloofness, pragmatic language difficulties, and social engagement problems compared to mothers. Female siblings showed increased difficulties with social cognition compared to male siblings. Adjusted models of the regression analyses showed that all BAP traits in fathers were significantly associated with BAP trait expression in probands with autism. Additionally, all of mother\'s BAP traits were significantly associated with unaffected siblings\' BAP trait expression while only fathers\' aloofness and rigidity traits were inversely associated with siblings\' BAP trait expression. Finally, there were significant inverse interactions noted between parent\'s BAP traits and their children\'s BAP trait expression. This study demonstrated differences in how males and females express BAP traits and also identified differences in parent-child associations by sex, with fathers having a greater effect on their proband children\'s expression of BAP traits than mothers.
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  • 文章类型: Journal Article
    UNASSIGNED: The broad autism phenotype refers to a group of behaviors related to autism spectrum disorder, but that appear to a lesser extent. Its assessment has been performed through outdated broad autism phenotype/autism spectrum disorder definitions and tests. To address this problem, this study presents the development of a new test, the Broad Autism Phenotype-International Test, a 20-item measure consisting of two dimensions, SOCIAL-BAP and RIRE-BAP, targeting the two-domain operationalization of autism spectrum disorder in Spain and the United Kingdom. Unlike the Broad Autism Phenotype Questionnaire, this test received empirical support as a quick and effective broad autism phenotype measure that can facilitate both broad autism phenotype/autism spectrum disorder research and interventions. This is the first step to studying the BAP in several Spanish and English-speaking countries.
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  • 文章类型: Journal Article
    研究表明,产前产妇压力(PNMS)与儿童自闭症的风险有关,以及自闭症儿童的非典型杏仁核功能连接。然而,目前尚不清楚杏仁核功能连接是否介导PNMS与自闭症特征之间的关联,特别是在年轻的成年后代中。我们招募了怀孕期间的妇女,或在三个月内,1998年魁北克冰暴危机,并评估了PNMS的三个方面:客观困难(冰暴期间经历的事件),主观痛苦(由于冰暴而经历的创伤后应激症状)和认知评估。在19岁时,32名年轻成年人(21名女性)自我报告了他们的自闭症样特征(即,超然的个性,语用语言障碍和僵化的人格),并接受了结构性MRI和静息态功能MRI扫描。进行种子-体素分析以绘制杏仁核功能连接网络。中介分析是通过20,000个重新采样的引导进行的。我们发现,更大的母体客观困难与左杏仁核和右中央后回之间的功能连通性较弱有关,然后与更多的语用语言障碍有关。更大的产妇主观困扰与右杏仁核和左中央前回之间的功能连接较弱有关,然后与更冷漠的性格有关。我们的结果表明,PNMS对后代孤独症样性状的持久作用可能是由杏仁核-感觉运动回路减少介导的。杏仁核-感觉和杏仁核-运动通路在不同自闭症表型上介导PNMS不同方面的差异需要进一步研究。
    Studies show that prenatal maternal stress (PNMS) is related to risk for child autism, and to atypical amygdala functional connectivity in the autistic child. Yet, it remains unclear whether amygdala functional connectivity mediates the association between PNMS and autistic traits, particularly in young adult offspring. We recruited women who were pregnant during, or within 3 months of, the 1998 Quebec ice storm crisis, and assessed three aspects of PNMS: objective hardship (events experienced during the ice storm), subjective distress (post-traumatic stress symptoms experienced as a result of the ice storm) and cognitive appraisal. At age 19, 32 young adults (21 females) self-reported their autistic-like traits (i.e., aloof personality, pragmatic language impairment and rigid personality), and underwent structural MRI and resting-state functional MRI scans. Seed-to-voxel analyses were conducted to map the amygdala functional connectivity network. Mediation analyses were implemented with bootstrapping of 20,000 resamplings. We found that greater maternal objective hardship was associated with weaker functional connectivity between the left amygdala and the right postcentral gyrus, which was then associated with more pragmatic language impairment. Greater maternal subjective distress was associated with weaker functional connectivity between the right amygdala and the left precentral gyrus, which was then associated with more aloof personality. Our results demonstrate that the long-lasting effect of PNMS on offspring autistic-like traits may be mediated by decreased amygdala-sensorimotor circuits. The differences between amygdala-sensory and amygdala-motor pathways mediating different aspects of PNMS on different autism phenotypes need to be studied further.
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  • 文章类型: Journal Article
    具有广泛自闭症表型(BAP)的个体表现出识别情绪的能力减弱。这项研究旨在研究随着任务复杂性的增加,他们的情绪识别能力的下降是否可以更清楚地识别出来,以及他们的视线模式是否会影响他们的下降。
    41名BAP患者和40名健康对照者执行了两种类型的情绪识别任务。在确认BAP组与对照组相比表现不佳的情况后,在执行条件时,我们比较了两组之间面部和上下文的凝视比例。
    任务越困难,自闭症特质水平与情绪识别能力之间的显著关系越清晰。与对照组相比,BAP组显示的准确性较低。就凝视比例而言,与对照组相比,BAP组在识别情绪时观察面部的次数较少。
    这些发现表明,BAP患者的情绪识别能力下降可能受到面部凝视的影响。
    UNASSIGNED: Individuals with broad autism phenotype (BAP) showed a diminished ability to recognize emotion. This study aims to examine whether their decline in emotion recognition ability could be more clearly identified as task complexity increased and whether their decline could be influenced by their eye-gaze patterns.
    UNASSIGNED: 41 individuals with BAP and 40 healthy controls performed two types of emotion recognition tasks. After confirming conditions wherein the BAP group did not perform well compared to the control group, we compared gaze proportion on faces and context between groups when performing the conditions.
    UNASSIGNED: The more difficult the task, the clearer the significant relationships between the level of autistic traits and emotion recognition ability. The BAP group showed lower accuracy compared to the control group when a face with mild emotional intensity was presented with context. In terms of gaze proportion, the BAP group looked less at faces when recognizing emotions compared to the control group.
    UNASSIGNED: These findings indicate that diminished emotion recognition ability in individuals with BAP may be influenced by face gaze.
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  • 文章类型: Journal Article
    目的:我们的主要目的是使用注意力网络测试(ANT)调查自闭症谱系障碍(ASD)儿童父母的注意力网络功能。次要目标是观察所有参与者的三个注意力网络是否彼此相关。
    方法:我们纳入了28名ASD儿童的父母和28名匹配良好的典型发育儿童的父母。所有参与者都接受了神经心理学评估和ANT测试。三个不同的注意力网络,包括警报,定向,和执行控制,也被测量了。
    结果:与对照组相比,ASD儿童的父母表现出效率较低的警报和执行控制网络(所有p<0.05),但不是定向网络(p=0.74)。警报之间没有发现显著的相关性,定向,和任何一组的执行控制网络。
    结论:我们的研究结果表明,ASD儿童的父母在警觉和执行控制注意功能方面存在缺陷。缺陷是广泛的自闭症表型的迹象。
    OBJECTIVE: We primarily aimed to investigate the attention network function among parents of children with autism spectrum disorder (ASD) using the Attention Network Test (ANT). The secondary objective was to observe whether the three attention networks of all participants were related to each other.
    METHODS: We included 28 parents of children with ASD and 28 well-matched parents of typically developing children. All participants underwent the neuropsychological assessment and ANT test. The three distinct attention networks, including alerting, orienting, and executive control, were also measured.
    RESULTS: Compared with controls, parents of children with ASD showed less-efficient alerting and executive control network (all p<0.05), but not orienting network (p=0.74). No significant correlation was found between the alerting, orienting, and executive control network for either group.
    CONCLUSIONS: Our findings showed that parents of children with ASD had deficits in alerting and executive control attention functions. The deficits are indications of a broad autism phenotype.
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  • 文章类型: Journal Article
    研究表明,产前产妇压力(PNMS)与儿童自闭症之间存在关联,在年轻的成年时期很少关注PNMS和自闭症。广泛的自闭症表型(BAP),包括自闭症的亚临床水平,包括超然的个性,语用语言障碍和僵化的人格。目前尚不清楚PNMS的不同方面是否可以解释年轻成年后代不同BAP域的差异。我们招募了怀孕期间的妇女,或在三个月内,1998年魁北克冰暴危机,并评估了他们压力的三个方面(即,客观的困难,主观痛苦和认知评估)。在19岁时,年轻的成年后代(n=33,22F/11M)完成了BAP自我报告。实施线性和逻辑回归以检查PNMS和BAP性状之间的关联。BAP总分和BAP三个领域的差异高达21.4%,至少可以通过母体压力的一个方面来解释。例如,超然人格变异的16.8%倾向于由母亲的客观困难解释;语用语言障碍变异的15.1%倾向于由母亲的主观困扰解释;僵化人格变异的20.0%倾向于由母亲的客观困难解释,由母亲的认知评估解释14.3%。鉴于样本量小,结果应谨慎解释.总之,这项小型前瞻性研究表明,母体压力的不同方面可能对青壮年BAP特征的不同组成部分产生不同的影响.
    Studies show associations between prenatal maternal stress (PNMS) and child autism, with little attention paid to PNMS and autism in young adulthood. The broad autism phenotype (BAP), encompassing sub-clinical levels of autism, includes aloof personality, pragmatic language impairment and rigid personality. It remains unclear whether different aspects of PNMS explain variance in different BAP domains in young adult offspring. We recruited women who were pregnant during, or within 3 months of, the 1998 Quebec ice storm crisis, and assessed three aspects of their stress (i.e., objective hardship, subjective distress and cognitive appraisal). At age 19, the young adult offspring (n = 33, 22F / 11M) completed a BAP self-report. Linear and logistic regressions were implemented to examine associations between PNMS and BAP traits. Up to 21.4% of the variance in BAP total score and in BAP three domains tended to be explained by at least one aspect of maternal stress, For example, 16.8% of the variance in aloof personality tended to be explained by maternal objective hardship; 15.1% of the variance in pragmatic language impairment tended to be explained by maternal subjective distress; 20.0% of the variance in rigid personality tended to be explained by maternal objective hardship and 14.3% by maternal cognitive appraisal. Given the small sample size, the results should be interpreted with caution. In conclusion, this small prospective study suggests that different aspects of maternal stress could have differential effects on different components of BAP traits in young adults.
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  • 文章类型: Journal Article
    In the recent years, growing attention has been paid to the use of camouflaging strategies by adult populations suffering from autism spectrum disorder (ASD) with milder manifestations and without intellectual impairment, which may lead to a delay in diagnosis or even a misdiagnosis. In fact, high-functioning ASD individuals were reported to be more aware of their communication difficulties and were more likely make considerable efforts to adjust their behavior to conventional rules of non-autistic individuals, learning to imitate other non-ASD individuals. Moreover, females reported a higher frequency of camouflaging strategies, suggesting a role of camouflaging in the gender gap of the ASD diagnosis. Although camouflaging strategies can sometimes grant a better level of adjustment, even resulting in a hyper-adaptive behavior, they are also often correlated with negative mental health consequences due to the long-term stress associated with continuous attempts to adapt in day-to-day life. In this framework, the aim of the present work was to review the available studies that assessed the presence and correlates of camouflaging strategies in individuals with ASD. Although the literature available on the topic is still scarce, some interesting correlations between camouflaging and anxious and depressive symptoms, as well as suicidality, were highlighted. In particular, the controversial and sometime opposite thoughts and results about camouflaging may be clarified and integrated in light of a dimensional approach to psychopathology.
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  • 文章类型: Journal Article
    未经证实:感官症状是许多自闭症患者痛苦的主要来源,引起焦虑,压力,和回避。感官问题被认为与其他自闭症特征一起遗传,比如社会偏好。这意味着报告认知僵化和自闭症样社会功能的人更有可能患有感官问题。我们不知道个人的感觉是什么角色,比如视觉,听力,气味,或触摸,在这种关系中玩耍,因为感官加工通常是用针对一般的问卷来衡量的,多感官问题。本研究旨在调查不同感官(视觉,听力,触摸,气味,味道,balance,和本体感受)与自闭症特征的相关性。为了确保结果是可复制的,我们在两大组成年人中重复了这个实验。第一组有40%的自闭症患者,而第二组类似于一般人群。我们发现,听觉处理的问题比其他感官的问题更能强烈地预测一般自闭症特征。触摸问题与社交互动的差异特别相关,比如避免社会环境。我们还发现了本体感受差异与自闭症样交流偏好之间的特定关系。感官问卷的可靠性有限,所以我们的结果可能低估了某些感官的贡献。考虑到这个保留,我们得出的结论是,听觉差异在预测基于遗传的自闭症特征方面比其他模式更占优势,因此可能对进一步的遗传和神经生物学研究特别感兴趣。
    Sensory symptoms are a major source of distress for many autistic people, causing anxiety, stress, and avoidance. Sensory problems are thought to be passed on genetically together with other autistic characteristics, such as social preferences. This means that people who report cognitive rigidity and autistic-like social function are more likely to suffer from sensory issues. We do not know what role the individual senses, such as vision, hearing, smell, or touch, play in this relationship, because sensory processing is generally measured with questionnaires that target general, multisensory issues. This study aimed to investigate the individual importance of the different senses (vision, hearing, touch, smell, taste, balance, and proprioception) in the correlation with autistic traits. To ensure the results were replicable, we repeated the experiment in two large groups of adults. The first group contained 40% autistic participants, whereas the second group resembled the general population. We found that problems with auditory processing were more strongly predictive of general autistic characteristics than were problems with the other senses. Problems with touch were specifically related to differences in social interaction, such as avoiding social settings. We also found a specific relationship between proprioceptive differences and autistic-like communication preferences. The sensory questionnaire had limited reliability, so our results may underestimate the contribution of some senses. With that reservation in mind, we conclude that auditory differences are dominant over other modalities in predicting genetically based autistic traits and may therefore be of special interest for further genetic and neurobiological studies.
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  • 文章类型: Journal Article
    背景:多项研究调查了自闭症谱系障碍(ASD)儿童中5-羟色胺(5-HT)和脑源性神经营养因子(BDNF)的循环水平。更有限的文献集中在ASD成人或有亚阈值自闭症谱系表现的人群,例如ASD先证者的亲属。这项研究旨在调查患有自闭症谱系疾病的成年人的5-HT和BDNF水平。还评估了生化变量水平与ASD症状之间的相关性。
    方法:ASD成人样本,他们的一级亲属(广泛的自闭症表型,BAP组),和对照组被招募并使用心理测量量表进行评估。从所有参与者收集血样。通过ELISA试剂盒测量5-HT和BDNF水平。
    结果:ASD成人显示低血小板血浆(PPP)5-HT水平显著低于BAP组和对照组。各组间PPPBDNF水平和血小板内5-HT水平无显著差异。据报道,5-HT水平与一些自闭症症状特别相关。
    结论:这项工作强调了ASD成人中PPP5-HT水平低于其他组,在BDNF水平方面没有显著差异,支持以下假设:成人ASD的生化相关性可能不同于儿童的典型报道.
    BACKGROUND: Several studies investigated circulating levels of serotonin (5- HT) and brain-derived neurotrophic factor (BDNF) in children with Autism spectrum disorder (ASD). More limited literature focused on ASD adults or on populations with subthreshold autism spectrum manifestations, such as relatives of ASD probands. This study aimed to investigate 5-HT and BDNF levels in adults with autism spectrum conditions. Correlations between levels of biochemical variables and ASD symptoms were also evaluated.
    METHODS: a sample of ASD adults, their first-degree relatives (Broad autism phenotype, BAP group), and controls were recruited and assessed with psychometric scales. Blood samples were collected from all participants. 5-HT and BDNF levels were measured by means of ELISA kits.
    RESULTS: ASD adults showed significantly lower platelet-poor plasma (PPP) 5-HT levels than BAP and control groups. No significant difference was found among groups for PPP BDNF levels and intra-platelet 5-HT levels. 5-HT levels were reported to be specifically correlated with some autism symptoms.
    CONCLUSIONS: This work highlighted the presence in ASD adults of reduced PPP 5-HT levels than in other groups, without significant differences with respect to BDNF levels, supporting the hypothesis that biochemical correlates of ASD in adults may be different from those typically reported in children.
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