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Explainable Ensemble Learning Framework for Early Detection of Autism Spectrum Disorder:Enhancing Trust,Interpretability and Reliability in AI-Driven Healthcare
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作者 Menwa Alshammeri Noshina Tariq +2 位作者 NZ Jhanji Mamoona Humayun Muhammad Attique Khan 《Computer Modeling in Engineering & Sciences》 2026年第1期1233-1265,共33页
Artificial Intelligence(AI)is changing healthcare by helping with diagnosis.However,for doctors to trust AI tools,they need to be both accurate and easy to understand.In this study,we created a new machine learning sy... Artificial Intelligence(AI)is changing healthcare by helping with diagnosis.However,for doctors to trust AI tools,they need to be both accurate and easy to understand.In this study,we created a new machine learning system for the early detection of Autism Spectrum Disorder(ASD)in children.Our main goal was to build a model that is not only good at predicting ASD but also clear in its reasoning.For this,we combined several different models,including Random Forest,XGBoost,and Neural Networks,into a single,more powerful framework.We used two different types of datasets:(i)a standard behavioral dataset and(ii)a more complex multimodal dataset with images,audio,and physiological information.The datasets were carefully preprocessed for missing values,redundant features,and dataset imbalance to ensure fair learning.The results outperformed the state-of-the-art with a Regularized Neural Network,achieving 97.6%accuracy on behavioral data.Whereas,on the multimodal data,the accuracy is 98.2%.Other models also did well with accuracies consistently above 96%.We also used SHAP and LIME on a behavioral dataset for models’explainability. 展开更多
关键词 Autism spectrum disorder(asd) artificial intelligence in healthcare explainable AI(XAI) ensemble learning machine learning early diagnosis model interpretability SHAP LIME predictive analytics ethical AI healthcare trustworthiness
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Efficacy of Static and Intermittent Gravity Inverted Therapy Techniques in Improvement of Motor Apraxia and Cognitive Abilities in Autism Spectrum Disorder (ASD)
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作者 Ahmed M. Azam 《World Journal of Neuroscience》 2018年第2期314-331,共18页
This work was carried out to investigate the efficacy of static and intermittent gravity inverted therapy techniques in improvement of motor apraxia and cognitive abilities in Autism Spectrum Disorder (ASD). 30 childr... This work was carried out to investigate the efficacy of static and intermittent gravity inverted therapy techniques in improvement of motor apraxia and cognitive abilities in Autism Spectrum Disorder (ASD). 30 children were randomly joined in this study into two groups;Group A (sensory integration therapy approach plus static and intermittent inversion therapy techniques) and Group B (sensory integration therapy approach only). Block design test was used to locate and follow constructional apraxia, computerized information processing speed test to locate and follow cognitive processing and grooved pegboard test was used to locate and follow fine motor skills. The variance between pre- and post-treatment results was highly significant in the study group in all variables. By comparison of the two groups in constructional apraxia variables test at post-treatment, there was a highly representative elevation in favour to study groups (p < 0.05). By comparison of the two groups in cognitive processing variable at post-treatment, there was a highly representative elevation in favour to study group (p < 0.05). By comparison of the two groups in fine motor skills variable at post-treatment, there was a highly representative elevation in favor to study group (p < 0.05). According to the outcomes of this study, it can be terminated that the sensory integration therapy approach plus static and intermittent inversion therapy techniques can be recommended in improvement constructional apraxia and cognitive processing abilities in autism spectrum disorder (ASD) children. 展开更多
关键词 Inversion THERAPY MOTOR APRAXIA AUTISM Spectrum disorder (asd) Children
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Jellyfish Search Optimization with Deep Learning Driven Autism Spectrum Disorder Classification
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作者 S.Rama Sree Inderjeet Kaur +5 位作者 Alexey Tikhonov E.Laxmi Lydia Ahmed A.Thabit Zahraa H.Kareem Yousif Kerrar Yousif Ahmed Alkhayyat 《Computers, Materials & Continua》 SCIE EI 2023年第1期2195-2209,共15页
Autism spectrum disorder(ASD)is regarded as a neurological disorder well-defined by a specific set of problems associated with social skills,recurrent conduct,and communication.Identifying ASD as soon as possible is f... Autism spectrum disorder(ASD)is regarded as a neurological disorder well-defined by a specific set of problems associated with social skills,recurrent conduct,and communication.Identifying ASD as soon as possible is favourable due to prior identification of ASD permits prompt interferences in children with ASD.Recognition of ASD related to objective pathogenicmutation screening is the initial step against prior intervention and efficient treatment of children who were affected.Nowadays,healthcare and machine learning(ML)industries are combined for determining the existence of various diseases.This article devises a Jellyfish Search Optimization with Deep Learning Driven ASD Detection and Classification(JSODL-ASDDC)model.The goal of the JSODL-ASDDC algorithm is to identify the different stages of ASD with the help of biomedical data.The proposed JSODLASDDC model initially performs min-max data normalization approach to scale the data into uniform range.In addition,the JSODL-ASDDC model involves JSO based feature selection(JFSO-FS)process to choose optimal feature subsets.Moreover,Gated Recurrent Unit(GRU)based classification model is utilized for the recognition and classification of ASD.Furthermore,the Bacterial Foraging Optimization(BFO)assisted parameter tuning process gets executed to enhance the efficacy of the GRU system.The experimental assessment of the JSODL-ASDDC model is investigated against distinct datasets.The experimental outcomes highlighted the enhanced performances of the JSODL-ASDDC algorithm over recent approaches. 展开更多
关键词 Autism spectral disorder biomedical data deep learning feature selection hyperparameter optimization data classification machine learning
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Parents of Children with Autistic Spectrum Disorder (ASD) as Co-therapists: The Therapists’ View
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作者 Angelique Kotsopoulou Ermioni Papadaki +9 位作者 Irene Florou Antigoni Troupou Dimitra Kolosioni Anastasia Georgiou Maria Gyftogianni Aikaterini Gyftogianni Athina Iliopoulou Eleonora Paleodimou Marigo Sakellari Efthimia Koumanioti 《Psychology Research》 2021年第2期44-55,共12页
Studies on the evaluation by therapists of parental behavior towards their children with Autistic Spectrum Disorder(ASD)and towards the therapists of their children are scarce.They are necessary,however,for enabling p... Studies on the evaluation by therapists of parental behavior towards their children with Autistic Spectrum Disorder(ASD)and towards the therapists of their children are scarce.They are necessary,however,for enabling parents to become co-therapists.The present study’s purpose was the evaluation by therapists of the behavior of parents towards their children,of their relationship to therapists,and therapy outcome.The sample consisted of 178 parents of 89 children(72 boys)with ASD,who underwent intensive early intervention at a day centre for developmental disabilities.The professional team completed a questionnaire,separately for the mother and father,evaluating the parental attitude towards their children and towards the therapists.The behavior of parents was less satisfactory than expected.The fathers had difficulties in understanding their child’s problems,and had unrealistic expectations;mothers’behavior towards their children and therapists was better than the fathers’.Mothers had difficulty mostly in the management of the child’s behavior,and did not do well with feeding.It might be difficult for every parent to become co-therapist.Understanding the child’s difficulties by the mother,adequate handling of feeding and homework,were statistically significant in the good outcome of therapy. 展开更多
关键词 Autistic Spectrum disorder(asd) PARENTS co-therapists stress expectations collaboration homework
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Understanding Autism Spectrum Disorder(ASD)Unraveling the Mysteries(A Short Review)
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作者 Shiva Dalili Bahman Zohuri 《Management Studies》 2023年第5期270-280,共11页
Autism Spectrum Disorder(ASD)is a multifaceted neurodevelopmental condition characterized by a spectrum of symptoms and behaviors,challenging to fully comprehend due to its variability.This article provides an overvie... Autism Spectrum Disorder(ASD)is a multifaceted neurodevelopmental condition characterized by a spectrum of symptoms and behaviors,challenging to fully comprehend due to its variability.This article provides an overview of ASD,including its characteristics,prevalence,diagnosis,and causes.The prevalence of ASD has been on the rise,with improved awareness and diagnostic tools.While genetics and environmental factors play a role,the exact causes remain elusive.Early intervention and various therapies are crucial for improving outcomes,although there is no cure.Ongoing research aims to uncover the complexities of ASD and develop effective treatments.Embracing diversity and fostering inclusion is essential for supporting individuals with ASD.As we continue to unravel the mysteries of ASD,we move closer to a more understanding and inclusive society.This article explores the role of Transcranial Magnetic Stimulation(TMS)in the treatment of Autism Spectrum Disorder(ASD).TMS,a non-invasive neurostimulation technique,is gaining attention as a potential therapy to address specific aspects of ASD. 展开更多
关键词 Autism Spectrum disorder(asd) neurodevelopmental condition prevalence diagnosis CAUSES early intervention THERAPIES INCLUSION
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Genetic mechanisms underlying synaptic pathology in Autism Spectrum Disorder (ASD)
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作者 HE Zheng-xiao LI Yong-yi +4 位作者 DING Xue-jiao JIANG Lin-yan ZHU Ming-wei TANG Ming-xi TANG Ya-Ping 《西南医科大学学报》 2021年第5期429-438,共10页
Autism spectrum disorder(ASD)is a neuronal developmental disorder that is characterized by de⁃fects both in social interaction and verbal communication,and is often accompanied by restricted interest,and repeti⁃tive a... Autism spectrum disorder(ASD)is a neuronal developmental disorder that is characterized by de⁃fects both in social interaction and verbal communication,and is often accompanied by restricted interest,and repeti⁃tive and stereotyped behaviors.The prevalence of ASD is approximately 0.8%~1.2%in China.Although its etiology remains unclear in most cases,over 1000 genes or genomic loci have been linked to its pathogenic origin,indicating a strong genetic influence,as well as complicated pathogenic mechanisms.Here,we reviewed recent findings in the possible genetic effects on synaptic pathophysiology of ASD,and a particular focus was put on variants in genes that are related to synaptic morphology or functions,such as FMR1,NRXN,NLGN,SHANK and MeCP2.The synaptic pathology caused by these genetic defects may substantially contribute to the pathogenesis of ASD.This review out⁃lines several lines of evidence that have been recently reported to support the hypothesis that a genetic defect may lead to a synaptic pathology that may underlie the pathogenesis of ASD. 展开更多
关键词 Autism spectrum disorders(asd) SYNAPSE Synapse elimination Synaptic transmission Synaptic plasticity
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CB1R敲除对小鼠ASD样行为及突触可塑性的影响
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作者 张艺霖 杜蔡瑶 +4 位作者 郭佩雯 程泽瑜 高雅 邹明扬 孙彩虹 《中国比较医学杂志》 北大核心 2025年第4期1-10,共10页
目的探究大麻素受体1(cannabinoid receptor 1,CB1R)对突触可塑性的作用,以及其对小鼠孤独症谱系障碍(autism spectrum disorders,ASD)样行为的影响。方法以CB1R敲除(knockout,KO)小鼠和丙戊酸钠(valproic acid,VPA)诱导的ASD模型鼠(VP... 目的探究大麻素受体1(cannabinoid receptor 1,CB1R)对突触可塑性的作用,以及其对小鼠孤独症谱系障碍(autism spectrum disorders,ASD)样行为的影响。方法以CB1R敲除(knockout,KO)小鼠和丙戊酸钠(valproic acid,VPA)诱导的ASD模型鼠(VPA小鼠)为研究对象。通过行为学实验评估CB1R对小鼠ASD样行为的影响;通过微管相关蛋白2(microtubule-associated protein 2,MAP2)染色实验检测神经元结构完整性及树突密度,通过蛋白免疫印迹实验检测突触相关蛋白的表达,以评估CB1R对突触可塑性的影响。结果行为学结果显示,VPA小鼠存在明显的ASD样行为;CB1R^(-/-)小鼠在旷场中心区域停留时间比值显著降低(P<0.0001),埋珠个数及自梳时间显著增加(P<0.01),与陌生鼠2社交时间及探索陌生物体时间显著减少(P<0.001),探索旧物体时间增加(P<0.05);CB1R^(+/-)小鼠在旷场中心区域停留时间比值明显降低(P<0.001),埋珠个数及自梳时间明显增加(P<0.05)。突触可塑性检测结果显示,VPA小鼠存在明显的突触可塑性损伤;CB1R^(-/-)小鼠和CB1R^(+/-)小鼠海马MAP2阳性神经元密度显著降低(P<0.05),突触蛋白1(synapsin 1,SYN1)表达水平显著升高(P<0.05)。结论CB1R敲除会导致小鼠出现焦虑和重复刻板行为、社交及认知障碍等ASD样行为,以及神经元损伤、树突发育障碍及突触蛋白表达紊乱,提示CB1R敲除导致突触可塑性异常是ASD样行为发生的病理机制。 展开更多
关键词 孤独症谱系障碍 大麻素受体1 突触可塑性 asd样行为
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Generating Social Interactions with Adolescents with Autism Spectrum Disorder, through a Gesture Imitation Game Led by a Humanoid Robot, in Collaboration with a Human Educator
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作者 Linda Vallée Malik Koné Olivier Asseu 《Open Journal of Psychiatry》 2025年第1期55-71,共17页
This article describes a pilot study aiming at generating social interactions between a humanoid robot and adolescents with autism spectrum disorder (ASD), through the practice of a gesture imitation game. The partici... This article describes a pilot study aiming at generating social interactions between a humanoid robot and adolescents with autism spectrum disorder (ASD), through the practice of a gesture imitation game. The participants were a 17-year-old young lady with ASD and intellectual deficit, and a control participant: a preadolescent with ASD but no intellectual deficit (Asperger syndrome). The game is comprised of four phases: greetings, pairing, imitation, and closing. Field educators were involved, playing specific roles: visual or physical inciter. The use of a robot allows for catching the participants’ attention, playing the imitation game for a longer period of time than with a human partner, and preventing the game partner’s negative facial expressions resulting from tiredness, impatience, or boredom. The participants’ behavior was observed in terms of initial approach towards the robot, positioning relative to the robot in terms of distance and orientation, reactions to the robot’s voice or moves, signs of happiness, and imitation attempts. Results suggest a more and more natural approach towards the robot during the sessions, as well as a higher level of social interaction, based on the variations of the parameters listed above. We use these preliminary results to draw the next steps of our research work as well as identify further perspectives, with this aim in mind: improving social interactions with adolescents with ASD and intellectual deficit, allowing for better integration of these people into our societies. 展开更多
关键词 Human-Robot Interaction (HRI) Autism Spectrum disorder (asd) IMITATION Artificial Intelligence Gesture Recognition Social Interaction
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Study on Screening of Main Acupoints and Pattern-Specific Acupoint Combination Rules for Acupuncture in Autism Spectrum Disorder Complicated with Sleep Disorder Based on Data Mining
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作者 Wei Du Hujie Song 《Journal of Clinical and Nursing Research》 2025年第8期241-249,共9页
Objective:To explore the core acupuncture acupoints and pattern-adapted acupoint combination rules for autism spectrum disorder(ASD)complicated with sleep disorder using clinical data mining technology.Methods:A retro... Objective:To explore the core acupuncture acupoints and pattern-adapted acupoint combination rules for autism spectrum disorder(ASD)complicated with sleep disorder using clinical data mining technology.Methods:A retrospective analysis was conducted on the diagnosis and treatment data of 104 children with ASD complicated with sleep disorder admitted to Xi’an Traditional Chinese Medicine(TCM)Encephalopathy Hospital from January 2022 to December 2024.Cross-pattern main acupoints were screened via frequency statistics,chi-square test,and factor analysis;pattern-specific auxiliary acupoints were extracted by combining multiple correspondence analysis,cluster analysis,and association rule mining.Results:Ten cross-pattern main acupoints(Baihui,Sishenzhen,Language Area 1,Language Area 2,Neiguan,Shenmen,Yongquan,Xuanzhong)were identified,and acupoint combination schemes for four major TCM patterns(Hyperactivity of Liver and Heart Fire,Deficiency of Kidney Essence,Deficiency of Both Heart and Spleen,Hyperactivity of Liver with Spleen Deficiency)were established.Conclusion:Acupuncture treatment should follow the principle of“regulating spirit and calming the brain as the root,and dredging collaterals based on pattern differentiation as the branch”.The synergy between main and auxiliary acupoints can accurately regulate the disease,providing a basis for precise clinical treatment. 展开更多
关键词 Autism Spectrum disorder(asd) Sleep disorder Acupoint selection rule Data mining
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Factors in Work-Related Musculoskeletal Disorders in Dentists:A Structural Equation Model
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作者 Shunhang Li Jian Li +6 位作者 Xin Xu Yushan Huang Yilin Zhang Xiaoshuang Xu Weizhen Guan Xiaoping Liu Jing Li 《Biomedical and Environmental Sciences》 2025年第5期639-643,共5页
Dentistry is a profession with a high prevalence of work-related musculoskeletal disorders(WMSDs),with symptoms often appearing very early in one’s career[1].WMSDs are conditions affecting the muscles,bones,and nervo... Dentistry is a profession with a high prevalence of work-related musculoskeletal disorders(WMSDs),with symptoms often appearing very early in one’s career[1].WMSDs are conditions affecting the muscles,bones,and nervous system due to occupational factors.In 2002,the International Labor Organization included musculoskeletal diseases in the International List of Occupational Diseases.China’s recently updated Classification and Catalog of Occupational Diseases has introduced two new categories of occupational illnesses,including occupational musculoskeletal disorders.WMSDs significantly impact the health and work of dentists,reducing their quality of life and causing economic losses.These disorders are multifactorial in nature,influenced by personal,psychosocial,biomechanical,and environmental factors.Dentists frequently maintain static or awkward postures during procedures,which leads to musculoskeletal strain and discomfort;additionally,long working hours contribute to psychological stress,further increasing the risk of WMSDs[2]. 展开更多
关键词 DENTISTS occupational factors classification catalog occupational diseases musculoskeletal disorders wmsds awkward postures work related musculoskeletal disorders structural equation model static postures
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Assessment of the hip-spine relationship in total hip arthroplasty for childhood hip disorders sequelae
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作者 Cong-Ke Shu Hai-Song Liang +2 位作者 Xin-Wen Bai Yu Deng Qi-Long Jiang 《World Journal of Orthopedics》 2025年第1期86-88,共3页
In this article,we comment on the article by Oommen et al.Oommen et al provided a comprehensive overview of the management of hip centre restoration in total hip arthroplasty(THA)for childhood hip disorder sequelae.Gi... In this article,we comment on the article by Oommen et al.Oommen et al provided a comprehensive overview of the management of hip centre restoration in total hip arthroplasty(THA)for childhood hip disorder sequelae.Given the developmental disparity in this population,specific preoperative planning is an essential prerequisite for the success of THA procedures.In the review by Oommen et al,assessments of acetabular and femoral anatomic variations were fully described.However,spinal malalignment and stiffness are common in physical and radiological examinations and should be taken into careful consideration when planning surgical procedures.Poor outcomes of THA for patients with comorbid hip and spinopelvic pathologies have been widely reported,especially for hips with childhood disorder sequelae.Therefore,in this editorial,we would like to emphasize the need for a thorough hip-spine evaluation of patients with childhood hip disorder sequelae before THA. 展开更多
关键词 Relationship between the hip and spine Total hip arthroplasty Childhood disorder sequelae Preoperative assessment Hip-spine classification
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rTMS在ASD患儿康复治疗中的效果研究
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作者 陈秀梅 甘杰聪 《科技与健康》 2025年第20期157-160,共4页
探讨重复性经颅磁刺激(repetitive transcranial magnetic stimulation,rTMS)在孤独症谱系障碍(autism spectrum disorder,ASD)患儿康复治疗中的应用效果。选取梧州市中医医院2022年11月—2025年3月收治的80例ASD患儿,随机降低分为对照... 探讨重复性经颅磁刺激(repetitive transcranial magnetic stimulation,rTMS)在孤独症谱系障碍(autism spectrum disorder,ASD)患儿康复治疗中的应用效果。选取梧州市中医医院2022年11月—2025年3月收治的80例ASD患儿,随机降低分为对照组(常规康复训练)与观察组(常规康复训练联合rTMS),每组各40例。于治疗前、治疗后采用儿童孤独症评定量表(childhood autism rating scale,CARS)、孤独症行为检查量表(autism behavior checklist,ABC)、儿童睡眠习惯问卷(children’s sleep habits questionnaire,CSHQ)评估核心症状及睡眠状况,检测血清脑源性神经营养因子(brain-derived neurotrophic factor,BDNF)和同型半胱氨酸(homocysteine,Hcy)水平,并分析临床疗效。结果显示,治疗8周后,观察组总有效率(92.50%)显著高于对照组(77.50%)(P<0.05)。两组患儿的ABC、CARS及CSHQ评分均较治疗前下降,且观察组降幅更大(P<0.05)。观察组BDNF水平高于对照组,Hcy水平低于对照组(P<0.05)。研究发现,rTMS联合常规康复训练可有效改善ASD患儿的核心症状、睡眠质量及情绪识别能力,其作用机制可能与调节神经递质及神经营养因子水平有关。 展开更多
关键词 重复性经颅磁刺激 孤独症谱系障碍 康复治疗
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基于R语言分析针灸治疗孤独症谱系障碍言语障碍的选穴规律
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作者 王兰 王兴 宋虎杰 《广州中医药大学学报》 2026年第2期425-433,共9页
【目的】基于R语言对针灸治疗孤独症谱系障碍(ASD)言语障碍文献的针灸处方进行数据挖掘,分析其用穴规律与特点。【方法】计算机检索中国知网期刊全文数据库(CNKI)、万方学术期刊全文数据库(Wanfang)、维普中文科技期刊数据库(VIP)、美... 【目的】基于R语言对针灸治疗孤独症谱系障碍(ASD)言语障碍文献的针灸处方进行数据挖掘,分析其用穴规律与特点。【方法】计算机检索中国知网期刊全文数据库(CNKI)、万方学术期刊全文数据库(Wanfang)、维普中文科技期刊数据库(VIP)、美国生物医学信息检索系统(PubMed)数据库有关针灸治疗孤独症谱系障碍(ASD)言语障碍文献的针灸处方。检索时间为各数据库自建库至2024年12月31日。运用Excel 2019和R语言对针灸处方进行频次分析、腧穴归经分析、关联规则分析、集合可视化分析以及聚类分析。【结果】共纳入73篇文献,提取有效处方129条,涉及112个腧穴及穴区,使用频次前5位的腧穴分别是百会、四神聪、神庭、言语三区、本神,使用频次最高的经脉分别是督脉、靳三针、焦氏头针。关联规则显示,常用穴位配伍组合共32组;集合可视化分析得到高频交集腧穴20组;聚类分析得到核心处方6组。【结论】针灸治疗ASD言语障碍以醒脑益智、疏利舌窍为原则;选穴多位于头部,以督脉穴、靳三针穴为主,加强通督调神之效;核心处方组为“言语三区、言语二区、言语一区、本神、神庭、四神聪”。 展开更多
关键词 针灸 孤独症谱系障碍 言语障碍 醒脑益智 疏利舌窍 通督调神 选穴规律 R语言
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ASD儿童父母的亲职压力及心理影响因素研究 被引量:11
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作者 陈敏榕 陈燕惠 薛漳 《中国妇幼健康研究》 2016年第12期1434-1436,共3页
目的探讨孤独症谱系障碍(ASD)儿童父母的亲职压力及心理影响因素。方法选取2014至2015年由福建省福州儿童医院心理科和福建医科大学附属协和医院儿童神经专科高年资主治以上医师确诊、并其父母完成问卷调查的ASD儿童134例,采用亲职压... 目的探讨孤独症谱系障碍(ASD)儿童父母的亲职压力及心理影响因素。方法选取2014至2015年由福建省福州儿童医院心理科和福建医科大学附属协和医院儿童神经专科高年资主治以上医师确诊、并其父母完成问卷调查的ASD儿童134例,采用亲职压力指标简表(包括父母困扰、亲子失功能及困难儿童3个分量表)、一般自我效能感量表、特质应对方式问卷对134名ASD儿童父母(实验组)进行调查,同时对115名正常儿童父母(对照组)施测,对结果进行分析。结果实验组亲职压力总分及各维度得分均高于对照组(t=8.40~9.95,P〈0.05);实验组一般自我效能感低于对照组(t=-6.61,P〈0.05),且采用更多的消极应对方式和更少的积极应对方式(t值分别为6.39、-4.72,P〈0.05)。相关分析显示:ASD儿童父母的亲职压力与消极应对呈正相关(r=0.328,P〈0.01),ASD儿童父母的亲职压力总分、父母困扰及困难儿童得分与患儿父母一般自我效能感均呈负相关(r值分别为-0.222、-0.251、-0.177,P〈0.05)。结论 ASD儿童父母普遍存在较高水平的亲职压力,其亲职压力与家长的一般自我效能感及消极应对方式有关。 展开更多
关键词 孤独症谱系障碍 家长 亲职压力 效能感 压力应对方式
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孤独症谱系障碍儿童的线粒体病理机制与靶向治疗研究进展
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作者 吴迪 马骏 《上海交通大学学报(医学版)》 北大核心 2026年第1期115-122,共8页
孤独症谱系障碍(autism spectrum disorder,ASD)是儿童期起病的慢性神经发育障碍,以社交互动、沟通障碍,重复刻板行为和兴趣狭窄为核心临床表现,其病理机制涉及遗传与环境因素的交互作用,但具体生物学机制尚未完全阐明。近年研究表明,... 孤独症谱系障碍(autism spectrum disorder,ASD)是儿童期起病的慢性神经发育障碍,以社交互动、沟通障碍,重复刻板行为和兴趣狭窄为核心临床表现,其病理机制涉及遗传与环境因素的交互作用,但具体生物学机制尚未完全阐明。近年研究表明,线粒体结构和功能障碍可能是ASD发病的关键环节。作为能量供应细胞器,线粒体与神经发育过程(包括神经发生、神经元迁移、突触形成及修剪等)密切相关。现有研究发现ASD患者普遍存在线粒体相关的异常改变,包括线粒体DNA变异、氧化应激水平升高及代谢紊乱等现象。机制研究表明,能量代谢缺陷、动力学失衡等线粒体功能障碍共同导致突触可塑性受损、神经环路异常,最终引发ASD核心行为表现。基于上述发现,研究者们进一步探讨了多种靶向线粒体的潜在干预策略,包括基因编辑、线粒体移植、抗氧化治疗、代谢重塑以及通过微生物组干预调节肠道-脑轴功能等方法。该文推测线粒体可能是整合遗传易感性与环境风险的关键环节之一,其结构及功能障碍不仅为ASD的神经发育异常提供生物学解释,还为未来开发针对ASD核心病理机制的干预措施指明方向。 展开更多
关键词 孤独症谱系障碍 线粒体 神经发育 机制
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ASD患儿脑扣带回代谢物浓度与临床特征的相关性 被引量:4
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作者 周樟伟 夏水伟 《中国妇幼健康研究》 2020年第4期497-501,共5页
目的探讨学龄前期孤独症谱系障碍(ASD)患儿脑扣带回代谢物定量及其与临床特征的相关性。方法选取2016年1月至2018年12月在丽水市中心医院就诊的32例学龄前期ASD患儿(病例组)和25例学龄前期体检健康儿童(对照组),均行磁共振波谱学扫描,... 目的探讨学龄前期孤独症谱系障碍(ASD)患儿脑扣带回代谢物定量及其与临床特征的相关性。方法选取2016年1月至2018年12月在丽水市中心医院就诊的32例学龄前期ASD患儿(病例组)和25例学龄前期体检健康儿童(对照组),均行磁共振波谱学扫描,比较两组儿童不同脑区各代谢物浓度的差异,并采用Pearson相关性分析对病例组患儿不同脑区代谢物浓度与各相关量表评分的关系进行研究。结果病例组患儿前部中扣带回皮层、前扣带回皮层和后扣带回皮层脑区N-乙酰天门冬氨酸(NAA)浓度均显著低于对照组(t值分别为2.60、3.71、3.15,均P<0.05);病例组患儿后扣带回皮层脑区谷氨酸复合物(Glx)和胆碱浓度均显著低于对照组(t值分别为2.43、3.55,均P<0.05)。经Pearson相关性分析显示,后扣带回脑区NAA代谢物浓度与儿童孤独症评定量表存在负相关关系(r=-0.56,P<0.01)。结论学龄前期ASD患儿的脑扣带回生化代谢物浓度异常改变,且后扣带回脑区NAA代谢物浓度与儿童孤独症评定量表评分呈负相关关系,可为ASD提供一种临床无创性辅助诊断方法。 展开更多
关键词 孤独症谱系障碍 扣带回 磁共振波谱学 学龄前期
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功能性近红外光谱技术在孤独症谱系障碍早期筛查领域应用的研究进展
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作者 何宇杉 王丙森 高东平 《医学信息学杂志》 2026年第3期71-77,共7页
目的/意义总结功能性近红外光谱技术(functional near-infrared spectroscopy,fNIRS)应用于孤独症谱系障碍(autism spectrum disorder,ASD)早期筛查领域的研究进展,以期为ASD的早期筛查与精准干预提供科学依据。方法/过程检索PubMed、We... 目的/意义总结功能性近红外光谱技术(functional near-infrared spectroscopy,fNIRS)应用于孤独症谱系障碍(autism spectrum disorder,ASD)早期筛查领域的研究进展,以期为ASD的早期筛查与精准干预提供科学依据。方法/过程检索PubMed、Web of Science、Embase数据库,提取纳入文献中的样本特征、刺激方式、fNIRS参数及主要结果,并进行系统分析。结果/结论 fNIRS能够有效测量大脑功能指标,进而发现高低风险婴儿间皮层与皮质激活、功能性连接、言语感知神经相关性等方面的差异,为ASD早期筛查提供客观依据,未来应开展多中心、标准化研究,推动fNIRS从研究工具向临床常规筛查手段转化。 展开更多
关键词 孤独症谱系障碍 功能性近红外光谱技术 家族风险 氧合血红蛋白
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Serotonergic Projection from the Dorsal Raphe Nucleus to the Basolateral Amygdala Bidirectionally Modulates Sociability in Mice
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作者 Yehui Zhang Yuxiang Zhang +4 位作者 Yuwei Diao Guangyi Yang Guangrui Yang Xuchu Weng Chun Hu 《Neuroscience Bulletin》 2026年第1期210-214,共5页
Dear Editor,Serotonin(5-HT),a pivotal neuromodulator,plays a central role in the social impairments characteristic of autism spectrum disorder(ASD).Clinical evidence reveals elevated blood 5-HT levels and reduced sero... Dear Editor,Serotonin(5-HT),a pivotal neuromodulator,plays a central role in the social impairments characteristic of autism spectrum disorder(ASD).Clinical evidence reveals elevated blood 5-HT levels and reduced serotonin transporter(5-HTT)availability in ASD patients[1],implicating serotonergic dysregulation in social behavior. 展开更多
关键词 SEROTONIN autism spectrum disorder asd clinical social impairments SOCIABILITY autism spectrum disorder serotonergic dysregulation social behavior basolateral amygdala serotonergic projection
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孤独症谱系障碍儿童自身核心症状及父母养育行为对其睡眠的影响
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作者 肖运华 朱洁 +3 位作者 梁桂铭 钱德怡 黎文舜 冯国梁 《中国生育健康杂志》 2026年第2期131-136,共6页
目的 本研究旨在对比分析孤独症谱系障碍(ASD)儿童与正常儿童在睡眠习惯、父母养育行为方面的差异,并进一步探究ASD儿童睡眠习惯与其父母养育行为及自身核心症状之间的相关性。方法 选取2021年—2023年确诊的3~10岁ASD儿童(ASD组)和正... 目的 本研究旨在对比分析孤独症谱系障碍(ASD)儿童与正常儿童在睡眠习惯、父母养育行为方面的差异,并进一步探究ASD儿童睡眠习惯与其父母养育行为及自身核心症状之间的相关性。方法 选取2021年—2023年确诊的3~10岁ASD儿童(ASD组)和正常儿童(正常组)各62例,采用父母行为问卷、儿童睡眠习惯量表分别评估两组被试的父母养育行为和睡眠习惯,运用t检验和回归分析ASD儿童睡眠习惯、父母养育行为及其与核心症状的关系。结果 与正常组相比,ASD组的睡眠习惯问题总分较高,父母支持/参与得分显著低于正常对照组,父母敌意/强制得分显著高于正常对照组,组间差异均有统计学意义。进一步分析显示,ASD儿童的睡眠习惯问题总分与其核心症状存在显著正相关(P<0.05),说明睡眠问题越严重,ASD的核心症状也越明显。同时,睡眠习惯问题总分与父母支持/参与养育行为存在显著负相关(P<0.05)。此外,睡眠习惯问题总分还与父母敌意/强制养育行为存在显著正相关(P<0.05)。ASD睡眠问题受到父母养育行为(支持/参与)的负向影响;ASD睡眠习惯受到核心症状、父母养育行为(敌意/强制)正向影响。结论 ASD儿童存在严重的睡眠问题,睡眠问题可能与ASD儿童自身核心症状及父母养育行为有关。 展开更多
关键词 孤独症谱系障碍(asd) 核心症状 睡眠习惯 养育行为
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构建适应性融合教育模式:幼儿园孤独症儿童随班就读问题探赜
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作者 赵俊 刘玲潇 《贵州师范学院学报》 2026年第2期60-68,共9页
特殊教育是教育事业的重要组成部分,融合教育是推动新时代特殊教育高质量发展的关键路径。当前,孤独症儿童确诊数量持续增长,给学前教育带来现实挑战。幼儿园在接纳孤独症儿童随班就读过程中,普遍面临理念滞后、模式不成熟、专业师资不... 特殊教育是教育事业的重要组成部分,融合教育是推动新时代特殊教育高质量发展的关键路径。当前,孤独症儿童确诊数量持续增长,给学前教育带来现实挑战。幼儿园在接纳孤独症儿童随班就读过程中,普遍面临理念滞后、模式不成熟、专业师资不足等现实困境。为系统回应上述问题,采用行动研究法,在某市多所幼儿园开展为期两年的实践探索,提出并实施了“构建和谐共生的幼儿园融合文化生态、构建‘三阶互融’教育模式、建立学前融合教育发展协同中心”三位一体的应对策略。通过质性访谈、课堂观察及案例分析等方法,系统验证了上述策略的可行性与有效性。实践表明,“三阶互融”模式显著提升了孤独症儿童的社会融入能力与整体发展水平,协同中心的建立有效整合了多方资源,推动了区域融合教育生态的优化。 展开更多
关键词 孤独症儿童 随班就读 融合教育
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