Autism spectrum disorder (ASD)

自闭症谱系障碍 ( ASD )
  • 文章类型: Journal Article
    目的:自闭症青少年通常经历与睡眠相关的困难,先前的研究试图分别检查生理和家庭水平的睡眠质量预测因素。当前的研究旨在从概念上复制并扩展到青少年样本,先前的研究发现呼吸性窦性心律失常与自闭症儿童的睡眠质量有关。此外,本研究还调查了自闭症青少年的家庭环境质量是否与睡眠质量相关。
    方法:样本由107名自闭症青少年组成,他们完成了呼吸性窦性心律失常的基线测量,然后观看了他们的父母在测量他们的呼吸性窦性心律失常反应性的同时进行讨论的视频。青少年还完成了问卷调查,测量他们的睡眠质量和家庭环境。
    结果:在回归模型中,青少年的生理功能不是他们睡眠质量的重要预测指标;然而,生活在质量较差的家庭环境中的青少年在控制生理功能后,睡眠质量较差。生理功能与预测睡眠质量的家庭环境之间的相互作用无统计学意义。
    结论:尽管目前的研究在概念上没有重复以前的工作,研究结果强调了家庭环境对青少年睡眠的重要性。讨论了影响和未来的方向。
    OBJECTIVE: Autistic adolescents commonly experience sleep-related difficulties and prior studies have sought to separately examine physiological and family-level predictors of their sleep quality. The current study aimed to conceptually replicate and extend to an adolescent sample a prior study that found respiratory sinus arrhythmia was associated with sleep quality in autistic children. In addition, the current study also examined whether the quality of the family environment was associated with sleep quality in autistic adolescents.
    METHODS: The sample consisted of 107 autistic adolescents who completed a baseline measure of respiratory sinus arrhythmia and then watched a video of their parents engaged in a discussion about a topic of disagreement while their respiratory sinus arrhythmia reactivity was measured. Adolescents also completed questionnaires measuring their sleep quality and family environment.
    RESULTS: In regression models, adolescents\' physiological functioning was not a significant predictor of their sleep quality; however, adolescents living in poorer quality family environments reported worse sleep quality after controlling for their physiological functioning. The interaction between physiological functioning and the family environment predicting sleep quality was non-significant.
    CONCLUSIONS: Although the current study did not conceptually replicate prior work, the findings highlight the importance of the family environment for adolescents\' sleep. Implications and future directions are discussed.
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  • 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: Journal Article
    自闭症谱系障碍(ASD)是一种神经系统疾病,影响一个人的理解和行为方式。这是一种终生残疾,无法使用任何最新疗法完全治疗。然而,及时识别和持续治疗对自闭症患者有巨大影响。现有的模型需要很长时间来确认诊断过程,将自闭症与各种发育障碍区分开来是非常复杂的。通过提供及时的干预来促进早期诊断,从长远来看,节省医疗保健成本并减轻家庭压力,这项研究引入了一种经济实惠且简单的诊断模型来使用EEG和深度学习模型检测ASD。这里,提出了一种称为级联深度最大模糊网络(CascadeDMFN)的混合深度学习模型来识别ASD,并通过将深度最大网络(DMN)和混合级联神经模糊集成来实现。此外,采用堪培拉距离和Kumar-hassebrook等混合相似性度量来进行特征选择技术。此外,EEG数据集和BCIAUT_P300数据集用于分析设计的级联DMFN以检测自闭症谱系障碍。设计的级联DMFN优于其他经典模型,具有0.930的高精度,0.919的负预测值(NPV),0.923的正预测值(PPV),0.926的真阴性率(TNR)和0.934的真阳性率(TPR)。
    Autism Spectrum Disorder (ASD) is a neurological disorder that influences a person\'s comprehension and way of behaving. It is a lifetime disability that cannot be completely treated using any therapy up to date. Nevertheless, in time identification and continuous therapies have a huge effect on autism patients. The existing models took a long time to confirm the diagnosis process and also, it is highly complex to differentiate autism from various developmental disorders. To facilitate early diagnosis by providing timely intervention, saving healthcare costs and reducing stress for the family in the long run, this research introduces an affordable and straightforward diagnostic model to detect ASD using EEG and deep learning models. Here, a hybrid deep learning model called Cascade deep maxout fuzzy network (Cascade DMFN) is proposed to identify ASD and it is achieved by the integration of Deep Maxout Network (DMN) and hybrid cascade neuro-fuzzy. Moreover, hybrid similarity measures like Canberra distance and Kumar-hassebrook is employed to conduct the feature selection technique. Also, the EEG dataset and BCIAUT_P300 dataset are used for analyzing the designed Cascade DMFN for detecting Autism Spectrum Disorder. The designed Cascade DMFN has outperformed other classical models by yielding a high accuracy of 0.930, Negative Predictive Value (NPV) of 0.919, Positive Predictive Value (PPV) of 0.923, True Negative Rate (TNR) of 0.926, and True Positive Rate (TPR) of 0.934.
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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
    越来越多的证据证明自闭症儿童有胃肠道问题。然而,孤独症和非孤独症儿童的肠道菌群(GM)存在显著差异.转基因的这些变化可能源于几个因素。最近,研究人员专注于营养因素,尤其是维生素缺乏。因此,我们的系统综述调查了自闭症之间的联系,GM变更,和维生素A缺乏症(VAD),通过分析2010年至2022年来自PubMed和Embase数据库的研究。坚持PRISMA准则,我们精心挑选了19项相关研究,这些研究确立了自闭症与转基因改变之间或自闭症与VAD之间的联系.我们的发现一致地指出自闭症患者的转基因发生了显着变化,表明这些变化是该疾病的有希望的生物标志物。尽管转基因改变与自闭症有一致的关联,我们的分析显示,自闭症患者和VAD患者的GM成分没有显著差异.这表明VAD,尤其是在生命早期遇到的时候,可能在自闭症的发病中起作用。此外,我们的评论强调了自闭症儿童视黄酸水平降低之间的明显相关性,这可能与自闭症症状的严重程度有关。我们的研究结果是双重的:它们不仅加强了转基因改变作为潜在诊断标志物的重要性,而且突出了进一步研究营养干预措施的迫切需要。具体来说,补充维生素A成为缓解自闭症症状的一个有希望的途径,保证对其治疗潜力进行更深入的调查。
    Accumulating evidence proves that children with autism have gastrointestinal problems. However, a significant difference in gut microbiota (GM) exists between autistic and non-autistic children. These changes in the GM may stem from several factors. Recently, researchers focused on nutritional factors, especially vitamin deficiency. Thus, our systematic review investigates the connections among autism, GM alterations, and vitamin A deficiency (VAD), by analyzing studies sourced from PubMed and Embase databases spanning from 2010 to 2022. Adhering to PRISMA guidelines, we meticulously selected 19 pertinent studies that established links between autism and GM changes or between autism and VAD. Our findings uniformly point to significant alterations in the GM of individuals with autism, indicating these changes as promising biomarkers for the disorder. Despite the consistent association of GM alterations with autism, our analysis revealed no notable differences in GM composition between individuals with autism and those experiencing VAD. This suggests that VAD, especially when encountered early in life, might play a role in the onset of autism. Furthermore, our review underscores a distinct correlation between reduced levels of retinoic acid in children with autism, a disparity that could relate to the severity of autism symptoms. The implications of our findings are twofold: they not only reinforce the significance of GM alterations as potential diagnostic markers but also spotlight the critical need for further research into nutritional interventions. Specifically, vitamin A supplementation emerges as a promising avenue for alleviating autism symptoms, warranting deeper investigation into its therapeutic potential.
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  • 文章类型: Journal Article
    自闭症是一种神经发育障碍,在儿童时期表现在个人身上,对他们的社交互动和交流具有持久的影响。近年来,基于大脑网络和活动差异的个体自闭症谱系障碍(ASD)的预测已经得到了广泛的研究,然而,精度较低。因此,在这项研究中,提出了通过计算机辅助算法在早期阶段进行识别,以区分ASD和TD患者。为了识别特征,开发了多层感知器(MLP)模型,该模型利用逻辑回归对从fMRI图像得出的受试者的连通性矩阵中提取的特征进行分析。通过逻辑回归模型确定了对患有自闭症谱系障碍(ASD)或典型发展(TD)的个体分类有重要贡献的特征。加强对本质属性的重视,一个AND操作是集成的。这涉及选择在对各种随机分布进行的各种逻辑回归分析中证明统计显著性的特征。迭代方法有助于全面理解相关特征以进行准确分类。通过实施这种方法,特征重要性的估计变得更加可靠,并且通过对各种数据子集的模型性能评估来缓和过度拟合的可能性。从实验中观察到,仅在ASD中发现高度相关的左枕骨外侧皮层和右枕骨外侧皮层ROI。此外,注意到高度相关的左小脑扁桃体和右小脑扁桃体仅在TD参与者中发现。在MLP分类器中,召回率达到82.61%,其次是Logistic回归,准确率为72.46%。MLP也以83.57%的准确度和0.978的AUC脱颖而出。
    Autism is a neurodevelopmental disorder that manifests in individuals during childhood and has enduring consequences for their social interactions and communication. The prediction of Autism Spectrum Disorder (ASD) in individuals based on the differences in brain networks and activities have been studied extensively in the recent past, however, with lower accuracies. Therefore in this research, identification at the early stage through computer-aided algorithms to differentiate between ASD and TD patients is proposed. In order to identify features, a Multi-Layer Perceptron (MLP) model is developed which utilizes logistic regression on characteristics extracted from connectivity matrices of subjects derived from fMRI images. The features that significantly contribute to the classification of individuals as having Autism Spectrum Disorder (ASD) or typically developing (TD) are identified by the logistic regression model. To enhance emphasis on essential attributes, an AND operation is integrated. This involves selecting features demonstrating statistical significance across diverse logistic regression analyses conducted on various random distributions. The iterative approach contributes to a comprehensive understanding of relevant features for accurate classification. By implementing this methodology, the estimation of feature importance became more dependable, and the potential for overfitting is moderated through the evaluation of model performance on various subsets of data. It is observed from the experimentation that the highly correlated Left Lateral Occipital Cortex and Right Lateral Occipital Cortex ROIs are only found in ASD. Also, it is noticed that the highly correlated Left Cerebellum Tonsil and Right Cerebellum Tonsil are only found in TD participants. Among the MLP classifier, a recall of 82.61 % is achieved followed by Logistic Regression with an accuracy of 72.46 %. MLP also stands out with a commendable accuracy of 83.57 % and AUC of 0.978.
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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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