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Comparison of the oral microbiota of children with autism spectrum disorder in primary dentition with neurotypical controls 自闭症谱系障碍儿童的初级牙科口腔微生物群与神经正常对照组的比较
IF 2.2 4区 医学 Q1 EDUCATION, SPECIAL Pub Date : 2024-09-17 DOI: 10.1016/j.rasd.2024.102480
Gülsevim Oda , Deniz Ece Kaya , Tuba Bilbay Kaynar , Emine Nursen Topcuoğlu , Murat Coşkun , Gamze Aren

Background

The number of studies suggesting differences in oral microbiota in autism spectrum disorders (ASDs) is increasing. However, the relationship between oral microbiota and ASD has not been determined. Therefore, this study aimed to examine the oral microbiota of children with ASD compared with neurotypical controls.

Method

Nine boys with a diagnosis of ASD according to the Diagnostic and Statistical Manual of the American Psychiatric Association, Fifth Edition who were aged 36 to 60 months (44 ± 6.34), and nine neurotypical age-matched boys were included in the study. After detailed clinical examinations, saliva samples were collected. DNA from the samples was investigated by high-throughput sequencing of the 16S rRNA gene. The Childhood Autism Rating Scale was used to assess the severity of ASD in the case group.

Results

An analysis of alpha and beta diversity indexes and principal coordinate analysis revealed no significant differences between ASD and neurotypical controls nor were there significant differences in the relative abundance of the phyla and genera between the two groups. However, the distribution of operational taxonomic units (with a relative abundance> 1 %) for Bacillales, Granulicatella elegans, Micrococcaceae, Micrococcales, Neisseria zalophi, S. anginosus SK52 = DSM 2563, S. cristatus AS 1.389, S. mitis, S. oralis subsp. dentisani and S. pneumoniae were significantly higher in the ASD group (p < 0.05).

Conclusions

Differences in the relative abundance of some taxa in the saliva of children with ASD compared with neurotypical controls were found. Further studies are needed to understand the relationship between oral microbiota and ASD.

背景越来越多的研究表明,自闭症谱系障碍(ASD)患者的口腔微生物群存在差异。然而,口腔微生物群与自闭症谱系障碍之间的关系尚未确定。研究纳入了 9 名根据《美国精神病学协会诊断与统计手册》第五版被诊断为 ASD 的年龄在 36 到 60 个月之间(44 ± 6.34)的男童和 9 名年龄匹配的神经正常男童。经过详细的临床检查后,采集了唾液样本。研究人员对样本中的 DNA 进行了 16S rRNA 基因高通量测序。结果阿尔法和贝塔多样性指数分析以及主坐标分析表明,ASD和神经畸形对照组之间没有显著差异,两组之间的门和属的相对丰度也没有显著差异。然而,下列微生物的操作分类单元(相对丰度为 1%)的分布情况却不尽相同:芽孢杆菌(Bacillales)、大肠杆菌(Granulicatella elegans)、微球菌科(Micrococcaceae)、微球菌属(Micrococcales)、奈瑟氏菌(Neisseria zalophi)、S. anginosus SK52 = DSM 2563、S. cristatus AS 1.389、S. mitis、S. oralis subsp.结论与神经畸形对照组相比,ASD 患儿唾液中某些分类群的相对丰度存在差异。要了解口腔微生物群与 ASD 之间的关系,还需要进一步的研究。
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引用次数: 0
Sensory responsivity and its relation to alexithymia, social processing and restricted interests and repetitive behaviour in autistic children 自闭症儿童的感官反应能力及其与自闭症、社交处理、兴趣受限和重复行为的关系
IF 2.2 4区 医学 Q1 EDUCATION, SPECIAL Pub Date : 2024-09-11 DOI: 10.1016/j.rasd.2024.102470
Madeleine Diepman, Nuala Brady

Background

Although noted in the earliest descriptions of autism, differences in sensory processing, including hyper-responsivity, hypo-responsivity and sensory seeking, have only been included as a diagnostic criterion more recently. Understanding how these unique features of sensory processing are related to the emotional and social aspects of autism is an ongoing question. Here we ask whether differences in sensory processing are associated with alexithymia, a trait characterised by an inability to identify and describe one’s feelings, which has a high incidence in autism.

Method

Parents of autistic children (n = 38) and parents of non-autistic children (n = 35) completed four standardized scales, the Short Sensory Profile-2, Social Responsiveness Scale-2, Social Communication Questionnaire, and the Children’s Alexithymia Measure.

Results

Across all four scales the autistic children showed higher scores than the non-autistic children, with large effect sizes. Using the subscales of the SSP-2 we show that, for the autistic children but not for the non-autistic children, sensory hyper-responsivity is predictive of alexithymia, of core social features of autism and of restricted interests and repetitive behaviour (RIRB), after controlling for hypo-responsivity and sensory seeking.

Conclusions

These results add to a small but growing literature on the relationship between sensory processing and social and emotional behaviours in autistic children, and are discussed with reference to predictive coding and ‘sensory first’ accounts of autism. As sensory differences in autism impact children’s daily functioning and educational opportunities, understanding how these differences relate to social and emotional behaviour is important.

背景虽然在最早的自闭症描述中就提到了感觉处理方面的差异,包括高反应性、低反应性和感觉寻求,但直到最近才被列为诊断标准。如何理解这些独特的感觉处理特征与自闭症的情绪和社交方面的关系是一个持续的问题。自闭症的特征是无法识别和描述自己的情感,而这种情感在自闭症中的发病率很高。方法:自闭症儿童的家长(38 人)和非自闭症儿童的家长(35 人)完成四个标准化量表,即简短感觉档案-2、社交反应量表-2、社交沟通问卷和儿童亚历山大症测量。通过使用 SSP-2 的子量表,我们发现对于自闭症儿童而非非自闭症儿童来说,在控制了低反应性和感官寻求后,感官高反应性可以预测自闭症、自闭症的核心社交特征以及兴趣受限和重复行为 (RIRB)。结论这些结果补充了有关自闭症儿童感觉处理与社交和情绪行为之间关系的少量但不断增加的文献,并参考了自闭症的预测编码和 "感觉第一 "的说法进行了讨论。由于自闭症儿童的感官差异会影响其日常功能和教育机会,因此了解这些差异与社交和情绪行为之间的关系非常重要。
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引用次数: 0
Atypical dynamic trust learning in individuals with high autistic traits in a multi-round trust game with multiple trustworthiness cues 高度自闭症患者在多轮信任游戏中的非典型动态信任学习
IF 2.2 4区 医学 Q1 EDUCATION, SPECIAL Pub Date : 2024-09-11 DOI: 10.1016/j.rasd.2024.102481
Xudong Zhao , Wenrui Li , Aijia Xu , Xintong Li , Wendian Shi

Background

Understanding the trust-building process, especially in contexts requiring the integration of multiple trustworthiness cues, is a fundamental aspect of social interactions among individuals with high autistic traits (ATs). It can offer valuable insights into the social functioning of these individuals.

Method

Participants with high and low ATs (N = 120; 30 in each group for two experiments) completed a 10-round trust game that embedded various trustworthiness cues, including reputation, advice (Experiment 1 = direct advice; Experiment 2 = social-emotional advice), and reciprocity. Linear mixed-effects models with investment rates as the dependent variable were used to analyze the data.

Results

Methodologically, the experimental results elucidated the fundamental characteristics of dynamic trust formation within the context of multidimensional trust information. Furthermore, High-AT individuals showed assigned less weight to reciprocity but relied heavily on reputation, and exhibited maladaptive advice-taking. Unlike low-AT individuals, high-AT individuals did not adaptively reduce reputational effect over rounds.

Conclusions

Our findings highlight the unique challenges faced by individuals with high ATs when navigating complex social interactions.

背景了解信任的建立过程,尤其是在需要整合多种可信度线索的情境中,是高度自闭症特质(ATs)个体之间社会互动的一个基本方面。方法高自闭症特质和低自闭症特质的参与者(人数=120;两个实验中每组各30人)完成一个10轮信任游戏,游戏中包含各种可信度线索,包括声誉、建议(实验1=直接建议;实验2=社会情感建议)和互惠。实验结果阐明了多维信任信息背景下动态信任形成的基本特征。此外,高AT个体对互惠的重视程度较低,但对声誉的依赖程度较高,并表现出不适应性的建议接受。与低AT个体不同的是,高AT个体并没有随着回合的增加而适应性地降低声誉效应。
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引用次数: 0
Biological determinants of the origin and development of the opposite psychological and behavioral traits associated with autism spectrum disorders and Williams syndrome 与自闭症谱系障碍和威廉姆斯综合症相关的相反心理和行为特征的起源和发展的生物学决定因素
IF 2.2 4区 医学 Q1 EDUCATION, SPECIAL Pub Date : 2024-09-11 DOI: 10.1016/j.rasd.2024.102479
Klara Vernerova, Roman Solc

Williams syndrome is a genetical disorder caused by microdeletion on chromosome 7, specifically of 7q11.23 region. Its phenotype is characterized by typical facial features, mild mental retardation, cardiovascular problems (patients often suffer from supravalvular aortic stenosis), gastrointestinal problems and endocrine abnormalities. However, Williams syndrome is best known for its unique behavioural-cognitive profile which leads to friendly, hypersocial and talkative personality. This specific neuropsychological profile is repeatedly considered to be the right opposite of the psychological profile, which is characteristic for people with autism spectrum disorder. Individuals with autism spectrum disorder often have severe impairments in social interaction, communication and they suffer from social anxieties. This contrasting cognitive-behavioural phenotype inspired many studies to examine possible biological causes, which might determine given personality features. Several results from these studies suggest that small genetical TFII-I family, which lies in the critical Williams syndrome region, could have a significant impact on the extent of personality qualities such as sociality and communication.

威廉姆斯综合症是一种由 7 号染色体(特别是 7q11.23 区)微缺失引起的遗传性疾病。其表型特征为典型的面部特征、轻度智力迟钝、心血管问题(患者通常患有主动脉瓣上狭窄)、肠胃问题和内分泌异常。然而,威廉姆斯综合症最著名的是其独特的行为认知特征,这种特征导致患者具有友好、超社会性和健谈的性格。这种特殊的神经心理学特征被认为与自闭症谱系障碍患者的心理特征正好相反。自闭症谱系障碍患者通常在社会交往和沟通方面存在严重障碍,并且患有社交焦虑症。这种认知-行为表型的反差激发了许多研究,以探讨可能的生物学原因,这些原因可能决定了特定的人格特征。这些研究的一些结果表明,位于威廉姆斯综合症关键区域的小基因 TFII-I 家族可能对社交和沟通等人格特征的程度有重大影响。
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引用次数: 0
Exploring social cognition and romantic self-efficacy in autistic young adults: Better social awareness is associated with lower confidence 探索自闭症青少年的社交认知和恋爱自我效能感:较好的社交意识与较低的自信心有关
IF 2.2 4区 医学 Q1 EDUCATION, SPECIAL Pub Date : 2024-09-10 DOI: 10.1016/j.rasd.2024.102466
Isabella Schichter , Nicole Nadwodny , Brooke H. Kohn , Dhruval Thakkar , David W. Pantalone , Susan Faja

Background

Despite misconceptions, autistic young adults are interested in romantic relationships (Fernandes et al., 2016, Hancock, Stokes, & Mesibov, 2019, Mehzabin and Stokes, 2011). Research is needed to better understand how the social characteristics of autism impact romantic relationship experiences, knowledge of sexual health, and confidence in one’s own abilities. Social cognition skills are linked to functioning in interpersonal relationships and are important for understanding the mental states of others. The present research aims to explore the intersections among social cognition skills, romantic self-efficacy, perceived knowledge, and dating outcomes. We hypothesize that social cognition level, self-efficacy, perceived knowledge, and romantic relationship outcomes will be positively related.

Method

Verbal autistic young adults (N = 31) aged 18–26 years participated in a study aimed at investigating the romantic experiences of young autistic adults. Participants completed questionnaires on self-efficacy and perceived knowledge, as well as a battery of social cognition tasks, including assessments of spontaneous and non-spontaneous social cognition.

Results

Spontaneous social cognition was negatively correlated with both relationship self-efficacy and perceived knowledge. Perceived knowledge, actual knowledge, and self-efficacy were positively correlated with each other.

Conclusion

This exploratory study was the first of which we are aware to demonstrate that autistic adults with stronger spontaneous social awareness are less confident of their sexual knowledge and abilities in romantic relationships than autistic adults with weaker spontaneous awareness. These findings suggest social cognitive tasks could be useful in assessing the specific sexual and romantic health-education needs of young autistic adults.

背景尽管存在误解,但自闭症青少年对恋爱关系很感兴趣(Fernandes 等人,2016 年;Hancock、Stokes、&;Mesibov,2019 年;Mehzabin 和 Stokes,2011 年)。需要开展研究,以更好地了解自闭症的社会特征如何影响恋爱关系体验、性健康知识以及对自身能力的信心。社会认知能力与人际关系中的功能有关,对于理解他人的心理状态非常重要。本研究旨在探索社会认知技能、恋爱自我效能感、感知知识和约会结果之间的交叉关系。我们假设,社会认知水平、自我效能感、感知知识和恋爱关系结果将呈正相关。方法18-26 岁的语言自闭症青少年(31 人)参加了一项旨在调查自闭症青少年恋爱经历的研究。参与者填写了自我效能感和感知知识问卷,并完成了一系列社会认知任务,包括自发和非自发社会认知评估。结论据我们所知,这项探索性研究首次证明,自发社会认知较强的自闭症成人对自己在恋爱关系中的性知识和能力的自信程度低于自发认知较弱的自闭症成人。这些研究结果表明,社会认知任务有助于评估年轻自闭症成年人在性和恋爱健康教育方面的特殊需求。
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引用次数: 0
Potential brain biomarkers in patients with Autism spectrum syndrome 自闭症谱系综合征患者的潜在脑部生物标志物
IF 2.2 4区 医学 Q1 EDUCATION, SPECIAL Pub Date : 2024-09-03 DOI: 10.1016/j.rasd.2024.102467
Davood Ghavi , Amir Ebrahimi , Zahra Forouzandeh , Mahmoud Shekari Khaniani , Sima Mansoori Derakhshan

Autism spectrum disorder (ASD) is referred as a cluster of neurodevelopmental disorders with relatively high incidence. ASD is believed to be a multifactorial condition, and genetics is one of the most important factors in its formation. Therefore, profiling gene expression in ASD patients can lead to the identification of new molecular insights. To evaluate gene expression patterns, we have utilized NCBI GEO microarray data. The dataset of ASD patients (GSE28475, GSE28521, GSE38322 and GSE113834) were defined as two meta-data, Total brain meta-data and Lobe specified meta-data. Meta-analysis and batch effect removal was conducted by the SVA package. Microarray data analysis was performed using the LIMMA package under R 4.2.1 software. Total Meta-Analysis (TMA) identified 525 significantly differentially expressed genes (DEGs) in ASD patient’s brain. The temporal and frontal lobes of ASD patients showed 96 and 23 DEGs respectively. Among the mentioned DEGs, there were 11 common DEGs between the temporal and frontal lobes that were also dysregulated in TMA except for UTP4 which was only dysregulated in the temporal and frontal lobes. However, the occipital and cerebellum lobes did not show any significant DEGs. Enrichment analysis pointed out the vital roles of identified DEGs in transmembrane transportation, ATP production, and cellular respiration. According to our findings, gene expression profile in the temporal and frontal lobes of ASD patients are significantly different than a control group. This aberrant gene expression potentially leads to crucial complications in nerve signal transmission and defects energy production in neurons. Therefore, potential therapeutic targets may be suggested based on these findings.

自闭症谱系障碍(ASD)是指一组发病率相对较高的神经发育障碍。自闭症被认为是一种多因素疾病,而遗传是其形成的最重要因素之一。因此,对 ASD 患者的基因表达进行剖析可以发现新的分子见解。为了评估基因表达模式,我们利用了 NCBI GEO 微阵列数据。ASD患者的数据集(GSE28475、GSE28521、GSE38322和GSE113834)被定义为两个元数据,即全脑元数据和特定脑叶元数据。元分析和批次效应去除由 SVA 软件包完成。微阵列数据分析使用 R 4.2.1 软件下的 LIMMA 软件包进行。总元分析(TMA)在 ASD 患者大脑中发现了 525 个显著差异表达基因(DEGs)。ASD患者的颞叶和额叶分别出现了96个和23个DEGs。在上述 DEGs 中,除了UTP4 仅在颞叶和额叶出现失调外,颞叶和额叶有 11 个共同的 DEGs 在 TMA 中也出现了失调。然而,枕叶和小脑叶未显示任何显著的 DEGs。富集分析表明,已确定的 DEGs 在跨膜运输、ATP 生成和细胞呼吸中发挥着重要作用。根据我们的研究结果,ASD 患者颞叶和额叶的基因表达谱与对照组相比有显著差异。这种异常的基因表达可能会导致神经信号传输的关键并发症和神经元能量产生的缺陷。因此,根据这些发现,我们可以提出潜在的治疗目标。
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引用次数: 0
The effects of the COVID-19 pandemic on mental health in mothers of autistic children and mothers of children with fragile X syndrome COVID-19 大流行对自闭症儿童母亲和脆性 X 综合征儿童母亲心理健康的影响
IF 2.2 4区 医学 Q1 EDUCATION, SPECIAL Pub Date : 2024-08-28 DOI: 10.1016/j.rasd.2024.102465
Carly Moser , Laura Friedman, Katherine Bangert , Alexandra Hickey , Jennifer Sun, Jessica Klusek

Background

The COVID-19 pandemic adversely affected the mental health of American mothers and mothers of children with disabilities may have been disproportionately impacted. The present study characterized psychological well-being, social support, and caregiving responsibilities during the pandemic across mothers of children with autism, fragile X syndrome (FXS), and neurotypical children.

Methods

Participants were 54 mothers of children with FXS, 46 mothers of autistic children, and a control group of 80 mothers of neurotypical children. Mothers completed questionnaires on depressive and anxiety symptoms, perceived decline in psychological well-being due to the pandemic, pandemic-related changes in caregiving responsibilities, and levels of social support.

Results

Over half of the mothers of children with autism and over one-third of the mothers of children with FXS reported clinically significant symptoms of depression and anxiety, with rates significantly higher than the control mothers. Though all mothers reported a surge in caregiving responsibilities, mothers of children with FXS experienced greater increases in caregiving responsibilities and social support was lower in both disability groups. Caregiving responsibilities and social support were associated with psychological well-being due to the pandemic across all groups.

Conclusions

Findings highlight the harsh impact of the pandemic on the mental health of mothers of children with FXS and autism. The staggering rate of clinical depressive and anxiety symptoms reported by these groups underscores the urgent need for improved access to psychological services and family-centered supports, with increased caregiving responsibilities and inadequate social support representing important risk factors for mental health problems.

背景COVID-19大流行对美国母亲的心理健康产生了不利影响,而残疾儿童的母亲可能受到了不成比例的影响。本研究描述了自闭症儿童、脆性 X 综合征(FXS)儿童和神经典型儿童的母亲在大流行期间的心理健康、社会支持和照顾责任。结果超过一半的自闭症儿童母亲和超过三分之一的 FXS 儿童母亲报告了临床上明显的抑郁和焦虑症状,其比例明显高于对照组母亲。虽然所有的母亲都报告说照顾孩子的责任增加了,但 FXS 患儿的母亲照顾孩子的责任增加得更多,而且两个残疾组的社会支持都较低。在所有组别中,护理责任和社会支持都与大流行病造成的心理健康有关。结论研究结果凸显了大流行病对 FXS 和自闭症儿童母亲心理健康的严重影响。这些群体出现临床抑郁和焦虑症状的比例惊人,这凸显了改善心理服务和以家庭为中心的支持的迫切需要,而护理责任的增加和社会支持的不足是导致心理健康问题的重要风险因素。
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引用次数: 0
An examination of sleep problems and parental well-being, comparing families with and without autistic children 比较有自闭症儿童的家庭和没有自闭症儿童的家庭,研究睡眠问题和父母的幸福感
IF 2.2 4区 医学 Q1 EDUCATION, SPECIAL Pub Date : 2024-08-23 DOI: 10.1016/j.rasd.2024.102462
Arlene Mannion, Sally Whelan, Geraldine Leader

Background

Sleep problems are a common comorbidity in autistic children and adolescents. Little is known about the role of sleep problems in parental well-being in the context of autism.

Method

The current study utilised actigraphy and questionnaire-based measures in mothers of autistic children and adolescents (n = 11), and mothers of typically developing (TD) children and adolescents (n = 11). Actigraphy is an objective, non-intrusive method for examining sleep. It involves wearing a wristwatch-like microcomputer that records motion. Measures included the Pittsburgh Sleep Quality Index, Autoimmune Disease in Family Members Questionnaire, Parenting Stress Index-Short Form, World Health Organization Quality of Life Abbreviated Version (WHOQOL-BREF), Hospital Anxiety and Depression Scale, and the Multidimensional Scale of Perceived Social Support.

Results

Mothers of autistic children had significantly greater difficulties with subjective sleep quality, sleep duration, sleep efficiency, and daytime dysfunction, than mothers of TD children. In mothers of autistic children, parental use of sleep medication on the PSQI was positively associated with objective sleep onset latency using actigraphy, with a large effect size. Families with an autistic child had significantly more family members with osteoarthritis and rheumatoid arthritis than did families of TD children. Families of autistic children had significantly more autistic family members than did families of TD children.

Conclusions

Mothers of autistic children had significantly higher levels of stress, anxiety, depression, and lower levels of quality of life and perceived social support, than parents of TD children. Sleep problems identified via actigraphy were associated with parental stress, anxiety and depression, and quality of life.

背景睡眠问题是自闭症儿童和青少年的常见并发症。目前的研究采用动觉测量法和问卷调查法对自闭症儿童和青少年的母亲(11 人)以及发育典型(TD)儿童和青少年的母亲(11 人)进行了调查。动觉仪是一种客观、非侵入性的睡眠检查方法。它通过佩戴一个类似手表的微型计算机来记录运动。测量项目包括匹兹堡睡眠质量指数、家庭成员自身免疫性疾病问卷、养育压力指数简表、世界卫生组织生活质量缩略版(WHOQOL-BREF)、医院焦虑和抑郁量表以及感知社会支持多维量表。在自闭症儿童的母亲中,父母在 PSQI 中使用的睡眠药物与使用动觉计的客观睡眠开始潜伏期呈正相关,且效应大小较大。有自闭症儿童的家庭中,患有骨关节炎和类风湿性关节炎的家庭成员明显多于有自闭症儿童的家庭。结论与 TD 儿童的父母相比,自闭症儿童的母亲的压力、焦虑和抑郁水平明显更高,生活质量和感知的社会支持水平更低。通过行为记录仪发现的睡眠问题与父母的压力、焦虑和抑郁以及生活质量有关。
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引用次数: 0
Facing Your Fears in autistic youth with co-occurring psychiatric conditions: Reductions in symptoms of anxiety and depression 面对自闭症青少年和并发精神病患者的恐惧:减少焦虑和抑郁症状
IF 2.2 4区 医学 Q1 EDUCATION, SPECIAL Pub Date : 2024-08-21 DOI: 10.1016/j.rasd.2024.102463
C.A. McMorris , K. Turner , K. Johnston , C.A. Clark , S.J. Howe , M. McConnell , K. McFee

Autistic youth often experience psychiatric complexity, with up to 70 % of youth experiencing at least one mental health issue, and as many as 41 % experiencing two or more issues simultaneously, or complex psychiatric comorbidity. Adapted cognitive behaviour therapy (CBT) for anxiety is effective in reducing anxiety symptoms in autistic youth who have multiple anxiety conditions, as well as other psychiatric conditions (e.g., attention deficit hyperactivity disorder; ADHD). However, few studies have examined the secondary impact of CBT for anxiety on depressive symptoms, despite the high prevalence of depression in autistic youth. Additionally, it is unknown how psychiatric complexity may impact, or moderate, autistic youth’s response to treatment. Fifty-one autistic youth (8–13 years old) participated in an adapted CBT intervention for anxiety (Facing Your Fears). Participants were categorized into one of three groups of increasing psychiatric complexity (Anxiety only; Anxiety + ADHD; and Anxiety + other mental health conditions). Paired sample t-tests and linear mixed models highlighted that autistic youth generally benefitted from CBT for anxiety, as seen in reductions of anxiety and depressive symptoms. Caregivers of youth in all diagnostic groups reported a significant reduction in anxiety symptoms and depression at post-treatment; however, only youth in the Anxiety only group, or those with less psychiatric complexity, reported a reduction in anxiety. Autistic youth did not report any changes in depressive symptoms, regardless of psychiatric complexity. Further study is needed to determine if symptom reductions continue overtime, and whether participating in adapted CBT for anxiety is associated with reductions in other mental health symptoms.

患有自闭症的青少年通常都有复杂的精神问题,多达 70% 的青少年至少有一种精神健康问题,多达 41% 的青少年同时有两种或两种以上的问题,即复杂的精神疾病合并症。针对焦虑症的认知行为疗法(CBT)能有效减轻患有多种焦虑症和其他精神疾病(如注意力缺陷多动障碍;ADHD)的自闭症青少年的焦虑症状。然而,尽管抑郁症在自闭症青少年中的发病率很高,却很少有研究探讨 CBT 治疗焦虑对抑郁症状的继发性影响。此外,人们还不知道精神疾病的复杂性会如何影响或缓和自闭症青少年对治疗的反应。51 名自闭症青少年(8-13 岁)参加了针对焦虑症的改编 CBT 干预疗法(面对恐惧)。参与者被分为三组(仅焦虑症组、焦虑症+多动症组和焦虑症+其他精神疾病组),每组的精神疾病复杂程度不同。配对样本 t 检验和线性混合模型显示,自闭症青少年一般都能从焦虑的 CBT 治疗中获益,这体现在焦虑和抑郁症状的减轻上。据所有诊断组青少年的照顾者报告,治疗后焦虑症状和抑郁症状明显减轻;然而,只有焦虑组或精神疾病复杂程度较低的青少年报告焦虑症状减轻。患有自闭症的青少年没有报告抑郁症状有任何变化,无论精神疾病的复杂程度如何。我们还需要进一步研究,以确定症状的减轻是否会随着时间的推移而持续,以及参加针对焦虑的适应性 CBT 是否与其他心理健康症状的减轻有关。
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引用次数: 0
Autism spectrum disorder (ASD) diagnosis: A biochemical investigation into the diagnostic utility of S-adenosylmethionine (SAM), S-adenosylhomocysteine (SAH) levels and the SAM/SAH ratio 自闭症谱系障碍(ASD)诊断:对 S-腺苷蛋氨酸(SAM)、S-腺苷高半胱氨酸(SAH)水平和 SAM/SAH 比值诊断效用的生化研究
IF 2.2 4区 医学 Q1 EDUCATION, SPECIAL Pub Date : 2024-08-16 DOI: 10.1016/j.rasd.2024.102464
Tuğba Polat , Zafer Yönden , Amin Daemi , Yusuf Döğüş , Hülya Binokay , Perihan Çam Ray , Çağlar Charles Daniel Jaicks
<div><h3>Background</h3><p>The balance between SAM and SAH ratios is critical for cellular methylation capacity such that a decrease in this ratio signals decrease the methylation potential, impacting cellular functions. In Autism Spectrum Disorder (ASD), impaired methylation processes are prominent, disrupting essential methyl group transfers crucial for DNA methylation, neurotransmitter synthesis, and detoxification. This disturbance affects gene expression and neural function, contributing to ASD development. This paper aims to explore ASD's pathogenesis by investigating biochemical parameters linked to the methylation cycle. For this purpose, some laboratory parameters are employed to aid in the understanding of potential laboratory abnormalities in ASD in children aged 2 to 8 years.</p></div><div><h3>Materials and Methods</h3><p>This study included a cohort of 43 children aged 2 to 8 years diagnosed ASD, alongside a control group of 43 age-and gender-matched healthy subjects. The serum of blood samples taken was used to measure biochemical factors. Specimens were processed using ELISA instrumentation and hemogram auto analyzers. The study conducted a statistical comparison between the ASD-diagnosed subjects and healthy controls, focusing on levels of S-adenosyl methionine (SAM), S-adenosyl homocysteine (SAH), Glycine N-methyltransferase (GNMT), and platelet counts.</p></div><div><h3>RESULTS</h3><p>The levels of SAH and platelets were significantly higher in the case group compared to the control group. Conversely, levels of SAM, as well as the SAM/SAH ratio, were found to be significantly lower in the case group than in the control group (p < 0.05). No statistically significant difference was observed in the levels of GNMT when compared (p > 0.05). Receiver Operating Characteristic (ROC) analysis revealed that the diagnostic performance for SAM had an area under the curve (AUC) of 0.876, with a cut-off point determined at 286.9 ng/mL, yielding a sensitivity of 85 % and a specificity of 75 %. For SAH, the AUC was calculated to be 0.671, with a cut-off point set at 0.49 ng/mL, resulting in a sensitivity and specificity of 64 %. The SAM/SAH ratio demonstrated an AUC of 0.806, with the cut-off point established at 576.3, leading to a sensitivity and specificity of 72 %. A significant negative correlation was detected between the scores of the Modified Checklist for Autism in Toddlers (M-CHAT) and both SAM levels and the SAM/SAH ratio. The analysis indicated that an increase of one unit (1 ng/mL) in SAM levels is associated with a decreased autism risk by a factor of 1/0.914 = 1.1 %, whereas an increase of one unit (1 × 10<sup>3</sup>/µL) in platelet count is associated with an increased autism risk by a factor of 1.019 %. Regarding glycine N-methyltransferase, no significant difference was observed between the two groups.</p></div><div><h3>Conclusion</h3><p>Follow-up studies with larger samples will be needed to better understand the poten
背景SAM 和 SAH 比率之间的平衡对细胞甲基化能力至关重要,因此该比率的降低会降低甲基化潜力,从而影响细胞功能。在自闭症谱系障碍(ASD)患者中,甲基化过程受损的现象非常突出,破坏了对 DNA 甲基化、神经递质合成和解毒至关重要的甲基转移。这种干扰会影响基因表达和神经功能,导致 ASD 的发展。本文旨在通过研究与甲基化循环相关的生化参数来探索 ASD 的发病机制。为此,本文采用了一些实验室参数,以帮助了解 2 至 8 岁儿童 ASD 潜在的实验室异常。采集的血清样本用于测量生化因子。标本使用 ELISA 仪器和血液自动分析仪进行处理。研究对 ASD 诊断对象和健康对照组进行了统计比较,重点是 S-腺苷蛋氨酸(SAM)、S-腺苷同型半胱氨酸(SAH)、甘氨酸 N-甲基转移酶(GNMT)和血小板计数的水平。相反,病例组的 SAM 水平以及 SAM/SAH 比率明显低于对照组(p < 0.05)。与对照组相比,病例组的 GNMT 水平无明显统计学差异(p > 0.05)。接收者操作特征(ROC)分析显示,SAM 的诊断性能曲线下面积(AUC)为 0.876,截断点确定为 286.9 ng/mL,灵敏度为 85%,特异性为 75%。对于 SAH,计算得出的 AUC 为 0.671,临界点设定为 0.49 纳克/毫升,灵敏度和特异性均为 64%。SAM/SAH比值的AUC为0.806,临界点设定为576.3,灵敏度和特异性均为72%。经修订的幼儿自闭症检查表(M-CHAT)得分与 SAM 水平和 SAM/SAH 比值之间存在明显的负相关。分析表明,SAM 水平每增加一个单位(1 纳克/毫升),自闭症风险就会降低 1/0.914 = 1.1 %,而血小板计数每增加一个单位(1 × 103/微升),自闭症风险就会增加 1.019 %。结论要更好地了解SAM、SAH和SAM/SAH作为潜在生物标志物的潜力,至少对于自闭症患者中的一部分人来说,还需要进行更大规模样本的后续研究。这些标记物与 M-Chat 总分之间的相关性进一步激发了人们对这种可能性的兴趣。这些标记物与 M-Chat 总分之间的相关性进一步支持了它们作为临床生化实验室参数的用途,可以帮助诊断 ASD。
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Research in Autism Spectrum Disorders
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