Autism spectrum disorder (ASD)

自闭症谱系障碍 ( ASD )
  • 文章类型: Journal Article
    在过去的几十年里,越来越多的人关注自闭症谱系障碍(ASD)患病率增加和精子质量下降的同时趋势.这些趋势代表了重大的公共卫生挑战,需要对其根本原因和影响进行彻底调查。
    这项研究的主要目标是分析2000年至2024年ASD患病率和精子质量参数的趋势,评估这些趋势的统计意义和影响大小,探索ASD患病率与精子质量参数之间的潜在相关性,并确定影响ASD患病率的精子质量参数中的重要预测因子。
    这项研究采用了使用多元回归的纵向方法,时间序列分析,方差分析,主成分分析(PCA),分层聚类,逻辑回归,和互相关分析。ASD患病率的数据来自CDC自闭症和发育障碍监测网络,而精子质量数据是从各种已发表的研究中收集的。
    研究结果表明,ASD患病率与精子质量参数(如精子浓度和活力)之间存在显著的负相关,这表明更好的精子质量与更低的ASD率有关。相反,参数,如精子DNA片段(SDF),射精量,pH值,精液粘度与ASD患病率呈正相关,表明这些参数中较高的值与较高的ASD率相关。
    该研究强调了维持生殖健康对潜在减轻ASD风险的重要性,并呼吁进一步研究以阐明驱动这些趋势的潜在机制。这些发现支持生殖健康因素在ASD病因中起关键作用的假设,并提出了评估ASD风险的潜在生物学标记。
    UNASSIGNED: Over the past few decades, there has been growing concern about the concurrent trends of increasing Autism Spectrum Disorder (ASD) prevalence and declining sperm quality. These trends represent significant public health challenges that warrant thorough investigation of their underlying causes and implications.
    UNASSIGNED: The primary objectives of this study are to analyze trends in ASD prevalence and sperm quality parameters from 2000 to 2024, assess the statistical significance and effect size of these trends, explore potential correlations between ASD prevalence and sperm quality parameters, and identify significant predictors among sperm quality parameters that influence ASD prevalence.
    UNASSIGNED: This study employed a longitudinal approach using multiple regression, time series analysis, ANOVA, Principal Component Analysis (PCA), hierarchical clustering, logistic regression, and cross-correlation analysis. Data on ASD prevalence were sourced from the CDC Autism and Developmental Disabilities Monitoring Network, while sperm quality data were collected from various published studies.
    UNASSIGNED: The findings reveal significant negative associations between ASD prevalence and sperm quality parameters such as sperm concentration and motility, suggesting that better sperm quality is linked to lower ASD rates. Conversely, parameters like sperm DNA fragmentation (SDF), volume of ejaculate, pH level, and semen viscosity show positive associations with ASD prevalence, indicating higher values in these parameters correlate with higher ASD rates.
    UNASSIGNED: The study highlights the importance of maintaining reproductive health to potentially mitigate ASD risk and calls for further research to elucidate the underlying mechanisms driving these trends. These findings support the hypothesis that reproductive health factors play a crucial role in ASD etiology and suggest potential biological markers for assessing ASD risk.
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  • 文章类型: Published Erratum
    [这更正了文章DOI:10.3389/fnsyss.2023.1168666。].
    [This corrects the article DOI: 10.3389/fnsys.2023.1168666.].
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  • 文章类型: Case Reports
    Pica被医学界称为饮食失调,其中个人可能由于营养缺乏而摄入非食物,并对自己造成无意的身体伤害。本文讨论了除其他合并症外的异食癖儿童的情况,例如毛滴虫病,抑郁症,自闭症,和焦虑。两名患者都接受了典型的一线治疗以解决异食癖症状,包括抗抑郁药,心理治疗,和神经学咨询,对异食癖症状无效。纳曲酮的引入带来了显著的改善,包括减少异食癖症状和改善抑郁症,焦虑,和整体行为。当两名患者停用纳曲酮一段时间时发生的效应进一步增强了纳曲酮的这些效应。
    Pica is known to the medical community as an eating disorder in which individuals may ingest non-food items due to a nutritional deficiency and cause unintentional physical harm to themselves. This article discusses the cases of children with pica in addition to other comorbidities such as trichotillomania, depression, autism, and anxiety. Both patients were trialed on typical first-line treatments to address pica symptoms, including antidepressants, psychotherapy, and neurology consults, which were ineffective in treating pica symptoms. The introduction of naltrexone resulted in significant improvements, including decreased pica symptoms and improvements in depression, anxiety, and overall behaviors. These effects of naltrexone were further bolstered by the effects that occurred when both patients discontinued naltrexone for some time.
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  • 文章类型: Journal Article
    这项研究的目的是确定经历精神病样经历(PLE)的青少年的自闭症谱系障碍(ASD)和注意力缺陷多动障碍(ADHD)特征,在临床实践中经常被忽视,但在普通人群中广泛流行。在门诊服务中连续招募了57名青少年和年轻人(年龄在16至24岁之间)。共有37名女性(64.9%),18人为男性(31.6%),两名参与者(3.5%)是非二元或性别不符合,转诊时的平均年龄为18.26±2.06岁。为了调查这些症状,使用了三套标准化问卷,如下:自闭症频谱商短形式(AQ-10),社区心理体验评估(CAPE-42),和成人ADHD自我报告量表(ASRS)。我们发现ASRS和AQ-10总分与所有CAPE量表之间存在显着关联。解释最大方差的模型是CAPE评分的总频率评分(p<0.001)。我们的发现强调了在临床人群中调查亚阈值ASD和ADHD症状的重要性。特别是在青春期和成年时期,及时识别PLE的存在,因此,预防坦率地说的精神病发作,特别是在存在合并症的精神病理学情况下,为患有两种或两种以上疾病的个体提供更好的诊断和治疗。
    The aim of this study is to identify autism spectrum disorder (ASD) and attention-deficit-hyperactivity disorder (ADHD) traits in adolescents who experience psychotic-like experiences (PLEs), often ignored in clinical practice but widely prevalent in the general population. A total of 57 adolescents and young adults (aged between 16 and 24 years old) were recruited consecutively in the outpatient services. A total of 37 were females (64.9%), 18 were males (31.6%), and two participants (3.5%) were non-binary or gender non-conforming, with a mean age at referral of 18.26 ± 2.06. To investigate these symptoms, three sets of standardized questionnaires were used, as follows: the Autism Spectrum Quotient-short form (AQ-10), the Community Assessment of Psychic Experiences (CAPE-42), and the Adult ADHD Self-Report Scale (ASRS). We found significant associations between the ASRS and AQ-10 total scores and all CAPE scales. The model which explained the highest variance was CAPE Score\'s Total Frequency score (p < 0.001). Our findings underline the importance of investigating the presence of subthreshold ASD and ADHD symptoms in clinical populations, particularly in the period of adolescence and young adulthood, to promptly identify the presence of PLEs and, thus, prevent the onset of a frank psychotic disorder, particularly in the presence of a comorbid psychopathological condition, leading to better diagnosis and treatment for individuals with two or more of these conditions.
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  • 文章类型: Case Reports
    目前,精神病学界的共识是,接受发育迟缓和/或自闭症谱系障碍(ASD)评估的儿童应在诊断过程的早期进行基因检测。识别遗传异常可以提供对患者预后的了解,并可能揭示可能在患者一生中出现的其他医学并发症。尽管有这些公认的好处,基因检测通常被延迟或不提供,因此剥夺了家庭对孩子未来健康结果的宝贵知识。我们介绍了一例6岁的患者,他向我们的儿童和青少年精神病学办公室提出了行为问题。她在就诊前几年接受了ASD诊断,但由于未知的原因,从未进行过基因检测。基因检测是在我们办公室进行的,结果显示,三种不同的突变与ASD和包括癫痫在内的各种其他医学并发症有关。有了这些知识,患者的家人对孩子的预后有了重要的了解。此案例强调了在评估发育迟缓和/或ASD儿童时采用即时测试(POCT)模型的必要性。通过这个模型,在这些患者的初次就诊期间,将向家庭提供基因检测。这将有助于简化这一过程,并允许更广泛地检测与ASD和共存的医学后遗症相关的遗传疾病。拥有这些知识将使家庭更好地了解孩子的状况,并允许家庭与提供者一起确定最佳治疗计划。
    It is the current consensus amongst the psychiatric community that children undergoing evaluation for developmental delays and/or autism spectrum disorder (ASD) should be offered genetic testing early in the diagnostic process. Identifying genetic abnormalities can provide insight into patient prognosis and may reveal other medical complications that could arise throughout a patient\'s life. Despite these recognized benefits, genetic testing is often delayed or not offered and therefore deprives families of valuable knowledge about their child\'s future health outcomes. We present a case of a six-year-old patient who presented to our child and adolescent psychiatry office for behavioral concerns. She had received an ASD diagnosis years prior to presentation, but for unknown reasons, genetic testing had never been pursued. Genetic testing was obtained in our office, and the results revealed three different mutations that were linked to ASD and various other medical complications including epilepsy. With this knowledge, the patient\'s family gained important insight into their child\'s prognosis. This case highlights the necessity for adopting a point-of-care testing (POCT) model when evaluating children with developmental delays and/or ASD. Through this model, genetic testing would be offered to families during the initial visit for these patients. This would help streamline this process and allow for more widespread detection of genetic disorders linked to ASD and coexisting medical sequelae. Having this knowledge would empower families with a better understanding of their child\'s condition and would allow families to work together with providers to determine the best possible treatment plan.
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  • 文章类型: Journal Article
    这项研究有两个目的。首先,我们的目的是调查ACB的患病率,PCB,与一组没有ASD的儿童相比,一组患有ASD的阿尔巴尼亚儿童的口腔习惯。第二,我们的目标是确定ASD与ACB的关联,PCB,和口腔习惯。样本包括125名自闭症儿童(91名男性,34名女性)来自地拉那的2所残疾儿童特殊学校和2所日常住宿中心。对照组包括125名无ASD儿童。通过卡方检验评估分类变量之间的关系。为了识别ASD的潜在风险因素,我们进行了二元逻辑回归。在初级和青少年牙列阶段之间,CB或口腔习惯没有统计学上的显着差异。比较患有CB和口腔习惯的ASD儿童,发现PCB的患病率存在显着差异。二元Logistic回归显示,ACB,PCB和口腔习惯与ASD无关。CB在原发性和混合牙列阶段的ASD儿童中更为普遍。口腔习惯在混合牙列和青少年牙列阶段更为普遍。然而,ASD不是CB或其他口腔习惯的危险因素。
    This study had two aims. First, we aimed to investigate the prevalence of ACB, PCB, and oral habits among a group of Albanian children with ASD compared with a group of children without ASD. Second, we aimed to identify the associations of ASD with ACB, PCB, and oral habits. The sample inlcuded 125 children with ASD (91 males, 34 females) from 2 special schools for children with disabilities and 2 daily residential centers in Tirana. The control group included 125 children without ASD. The relationships between categorical variables were evaluated via the chi-square test. To identify the potential risk factors for ASD, we performed binary logistic regression. No statistically significant differences were found for CB or oral habits between the primary and adolescent dentition stages. A comparison of children with ASD with CB and oral habits revealed a significant difference in the prevalence of PCB. Binary logistic regression revealed that ACB, PCB and oral habits were not associated with ASD. CB was more prevalent among children with ASD in the primary and mixed dentition stages. Oral habits were more prevalent in the mixed and adolescent dentition stages. However, ASD is not a risk factor for CB or other oral habits.
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  • 文章类型: Journal Article
    背景:照顾患有自闭症谱系障碍(ASD)的儿童是一项具有挑战性和压力的任务,特别是在资源有限的国家。额外的研究是必要的,考虑到ASD儿童的患病率越来越高,增加对ASD儿童看护者面临的复杂困难的了解,并提供对父母利用的应对策略和支持网络的见解。
    目的:这项研究的目的是探索和描述KennethKaunda博士地区ASD儿童看护人的经验和应对机制,西北省,南非。
    方法:定性探索,使用目的抽样技术和半结构化访谈进行了上下文和描述性设计。按照反身性专题分析的六个步骤对数据进行了分析。
    结果:确定了两个主题:照顾者抚养自闭症儿童的经验,和照顾者应对抚养自闭症儿童。
    结论:研究建立了照顾者的经验和应对机制,以抚养患有ASD的孩子,以及对他们生活的不同方面的影响,包括情感,社会和金融方面,这对他们的整体福祉有负面影响。这些障碍需要建立情感支持小组,通过开展运动,对家庭和社区进行各种挑战的教育,增强护理人员的权能和提高认识。贡献:这项研究的结果有助于更深入地了解ASD儿童看护者面临的多方面挑战,并提供对这些看护者在社会生态背景下采用的支持系统和应对机制的见解。
    BACKGROUND:  Caring for a child with autism spectrum disorder (ASD) is a challenging and stressful task, especially in countries with limited resources. Additional research is necessary, considering the increasing prevalence of children with ASD, to gain increased knowledge of the complex difficulties faced by caregivers of ASD children and to offer insights into the coping strategies and support networks that parents utilise.
    OBJECTIVE:  The objective of this study was to explore and describe the experiences and coping mechanisms of caregivers of children with ASD in Dr Kenneth Kaunda district, North West province, South Africa.
    METHODS:  Qualitative explorative, contextual and descriptive design with purposive sampling technique and semi-structured interviews were conducted. Data were analysed following the six steps of reflexive thematic analysis.
    RESULTS:  Two themes were identified: Caregivers\' experiences in raising a child with autism, and caregivers\' coping in raising a child with autism.
    CONCLUSIONS:  The research established caregivers\' experiences and coping mechanisms in raising a child with ASD and the effects on different aspects of their lives including emotional, social and financial aspects, which contribute negatively to their holistic well-being. These impediments warrant the establishment of emotional support groups, empowerment of caregivers and awareness-raising through campaigns to educate the family and the community on the diverse challenges.Contribution: The findings of this study contribute to a deeper understanding of the multifaceted challenges faced by caregivers of children with ASD and provide insights into the support systems and coping mechanisms employed by these caregivers within the socio-ecological context.
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  • 文章类型: Journal Article
    自闭症谱系障碍(ASD)的主要特征是社交技能的核心缺陷,通信,和认知,以及重复的刻板行为。这些表现在个体之间是可变的,ASD发病机制复杂,有一千多个相关基因,许多表观遗传因素,和多种环境影响。中脑边缘多巴胺(DA)介导的大脑奖励系统发挥着关键作用,但是迅速发展的文献揭示了复杂的,涉及广泛的中胚层基因座的细微差别信号,神经递质和受体亚型,和神经元变异。改变的DA信号如何构成ASD的多种因果起源的下游收敛还没有很好地理解。ASD发病机制的清晰工作框架可能有助于描绘共同阶段以及潜在的诊断和介入机会。因此,我们在更新ASD奖励信号的新兴数据和观点的背景下总结了ASD的已知自然史。然后,在这种背景下,我们提供了一个临时框架,将ASD发病机制组织成连续的水平,包括(1)遗传和表观遗传变化,(2)中胚层奖励信号通路中断,(3)神经递质/DA信号传导失调,最后,(4)改变神经认知和社会行为以及可能的基于拮抗剂/激动剂的ASD干预。将ASD细分为潜在可寻址部分的逻辑进展可能有助于促进诊断和靶向治疗的合理制定。
    Autism spectrum disorder (ASD) is primarily characterized by core deficits in social skills, communication, and cognition and by repetitive stereotyped behaviors. These manifestations are variable between individuals, and ASD pathogenesis is complex, with over a thousand implicated genes, many epigenetic factors, and multiple environmental influences. The mesolimbic dopamine (DA) mediated brain reward system is held to play a key role, but the rapidly expanding literature reveals intricate, nuanced signaling involving a wide array of mesolimbic loci, neurotransmitters and receptor subtypes, and neuronal variants. How altered DA signaling may constitute a downstream convergence of the manifold causal origins of ASD is not well understood. A clear working framework of ASD pathogenesis may help delineate common stages and potential diagnostic and interventional opportunities. Hence, we summarize the known natural history of ASD in the context of emerging data and perspectives to update ASD reward signaling. Then, against this backdrop, we proffer a provisional framework that organizes ASD pathogenesis into successive levels, including (1) genetic and epigenetic changes, (2) disrupted mesolimbic reward signaling pathways, (3) dysregulated neurotransmitter/DA signaling, and finally, (4) altered neurocognitive and social behavior and possible antagonist/agonist based ASD interventions. This subdivision of ASD into a logical progression of potentially addressable parts may help facilitate the rational formulation of diagnostics and targeted treatments.
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  • 文章类型: Published Erratum
    [这更正了文章DOI:10.3389/fncel.2023.1226580。].
    [This corrects the article DOI: 10.3389/fncel.2023.1226580.].
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  • 文章类型: Journal Article
    背景技术众所周知,自闭症谱系障碍(ASD)的患病率和诊断在男性中比在女性中更常见。尽管如此,在研究应用行为分析(ABA)对各种测量变量的治疗效果的性别差异的自闭症研究中,存在显著差距.本研究旨在全面评估有关目标行为目标的性别差异,目标,和赤字变量。材料和方法本研究分析了100名参与者的回顾性数据,包括89名青少年和4名成年人,有七个案例缺乏年龄记录,从3月19日至2023年6月11日接受了为期三个月的ABA计划。ABA计划包括各种方法,如功能分析,离散试验培训,大规模审判,和自然主义训练。成果计量数据,包括目标行为能力,年龄,熟练程度的平均试验,熟练程度的平均教学天数,开放的行为目标,和目标趋势,是使用“催化剂”软件收集的(催化剂软件公司,纽约,NY).使用分类(性别和种族/种族)和连续变量(已掌握行为目标的百分比,年龄,平均试验,平均教学天数,开放目标,维护期间失败目标的百分比,向上的目标百分比,向下,和平坦的趋势)。这些统计数据包括平均值,标准偏差,中位数,和范围,并使用9个单独的两样本独立t检验和相应的效应大小进行推断分析。结果在所有检查的9个变量中,基于性别的差异无统计学意义(p>0.05):年龄,掌握的平均试验,掌握教学的平均天数,打开目标,维修失败的目标百分比,趋势上升的目标百分比,下降的目标百分比,和目标趋于平坦的百分比,并检测到广泛的置信区间。结论关于这九个行为目标,对ABA治疗的反应无显著性别差异,掌握,赤字变量可能是相关的。他们认为ABA治疗对男性和女性自闭症个体同样有益。这些结果应谨慎解释。观察到的一般模式,以广泛的置信区间为特征,带有一定程度的统计不确定性,这可能表明了巨大的性别差异。这些结果可能会质疑关于基于性别的治疗反应变化的普遍信念。这可能会对临床实践产生深远的影响,暗示医疗保健专业人员在建议ABA疗法时不应该偏爱一种性别。相反,治疗建议应针对每个孩子的独特要求和特点,不分性别。研究人员希望这些结果能鼓励该领域的其他研究。了解影响治疗反应的因素对于改善治疗结果和定制护理至关重要。
    Introduction  It is widely recognized that the prevalence and diagnosis of autism spectrum disorder (ASD) are more common in males than in females. Despite this, there is a significant gap in the body of autism research that investigates gender differences for treatment effects of applied behavior analysis (ABA) across a variety of measured variables. This research aims to comprehensively evaluate gender distinctions concerning target behavioral objectives, goals, and deficit variables. Materials and methods This study analyzed retrospective data from 100 participants, including 89 juveniles and four adults, with seven cases lacking age documentation, who underwent a three-month ABA program from March 19 to June 11, 2023. The ABA program included various methodologies such as functional analysis, discrete trial training, mass trials, and naturalistic training. Data on outcome measures, including target behavioral proficiency, age, average trials to proficiency, average teaching days to proficiency, open behavioral objectives, and target trends, were collected using the \"Catalyst\" software (Catalyst Software Corporation, New York, NY). Participant demographics were summarized using statistical analyses for categorical (gender and race/ethnicity) and continuous variables (percentage of mastered behavioral objectives, age, average trials, average teaching days, open objectives, percentage of failed objectives during maintenance, percentage of objectives with upward, downward, and flat trends). These statistics included mean, standard deviation, median, and range and were analyzed inferentially using nine separate two-sample independent t-tests and corresponding effect sizes using Cohen\'s d. Results There were no statistically significant disparities based on gender (p > 0.05) across all nine variables examined: Percentage of Targets Mastered, Age, Average Trials to Mastery, Average Teaching Days to Mastery, Open Targets, Percentage of Targets Failed in Maintenance, Percentage of Targets Trending Up, Percentage of Targets Trending Down, and Percentage of Targets Trending Flat, and wide confidence intervals were detected. Conclusions  Non-significant gender differences in response to ABA treatments regarding these nine behavioral goals, mastery, and deficit variables may be relevant. They suggest that ABA treatments could be equally beneficial for both male and female autistic individuals. These results should be interpreted cautiously. The general pattern observed, characterized by broad confidence intervals, carries a degree of statistical uncertainty, which may suggest substantial gender differences. These results might question the prevailing beliefs about the variation in treatment response based on gender. This could profoundly impact clinical practices, implying that healthcare professionals should not favor one gender over another when suggesting ABA therapies. Instead, the treatment advice should be tailored to each child\'s unique requirements and traits, regardless of gender. The investigators expect these results to encourage additional research in this field. Comprehending the elements that affect treatment response is vital for improving treatment results and customizing care.
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