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
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
Autism Spectrum Disorder(ASD)is a neurodevelopmental condition characterized by significant challenges in social interaction,communication,and repetitive behaviors.Timely and precise ASD detection is crucial,particula...Autism Spectrum Disorder(ASD)is a neurodevelopmental condition characterized by significant challenges in social interaction,communication,and repetitive behaviors.Timely and precise ASD detection is crucial,particularly in regions with limited diagnostic resources like Pakistan.This study aims to conduct an extensive comparative analysis of various machine learning classifiers for ASD detection using facial images to identify an accurate and cost-effective solution tailored to the local context.The research involves experimentation with VGG16 and MobileNet models,exploring different batch sizes,optimizers,and learning rate schedulers.In addition,the“Orange”machine learning tool is employed to evaluate classifier performance and automated image processing capabilities are utilized within the tool.The findings unequivocally establish VGG16 as the most effective classifier with a 5-fold cross-validation approach.Specifically,VGG16,with a batch size of 2 and the Adam optimizer,trained for 100 epochs,achieves a remarkable validation accuracy of 99% and a testing accuracy of 87%.Furthermore,the model achieves an F1 score of 88%,precision of 85%,and recall of 90% on test images.To validate the practical applicability of the VGG16 model with 5-fold cross-validation,the study conducts further testing on a dataset sourced fromautism centers in Pakistan,resulting in an accuracy rate of 85%.This reaffirms the model’s suitability for real-world ASD detection.This research offers valuable insights into classifier performance,emphasizing the potential of machine learning to deliver precise and accessible ASD diagnoses via facial image analysis.展开更多
Objective:autism spectrum disorder(ASD),a serious disorder that begins early in life,con-tinues throughout the lifespan.Children with ASD who are diagnosed early are more responsive to therapeutic interventions and ha...Objective:autism spectrum disorder(ASD),a serious disorder that begins early in life,con-tinues throughout the lifespan.Children with ASD who are diagnosed early are more responsive to therapeutic interventions and have less social and language impair-ment than children diagnosed later;however,current di-agnostic measures are mostly applied to children older than one year and lack the appropriate biological markers for early diagnosis of ASD.Using bioinformatic analy-sis,this study explores the molecular information mech-anism of ASD.Method:in this study,we used dataset GSE6575 from Gene Expression Omnibus(GEO)to an-alyze the mRNA expression profile of ASD,including 35 ASD samples and 12 normal control samples looking for different genes and we did enrichment analysis of those genes.We then used the STRING database to construct a protein-protein interaction(PPI)network of differential genes.Finally,Cytoscape plug-in cytoHubba was used to search for hub genes.The diagnostic value of the hub genes was verified by subject operating characteristic curves.Result:we looked for 50 different genes and did an enrichment analysis of those genes.The results of the enrichment analysis showed that these differential genes were mainly concentrated in the response to viruses,the immune regulation of inflammation and energy metabo-lism.Using Cytoscape plug-in cytoHubba,we found ten different genes.We drew ROC curves for all ten genes among which two genes,interleukin 2 receptor subunit beta(IL2Rβ)and perforin 1(PRF1),had good sensitivity and specificity for the early diagnosis of autism.The ar-eas under the ROC curves were 0.855,0.830 for IL2Rβ,PRF1.Conclusion:data analysis using the GEO data-base can provide new insights into the etiology of ASD as well as some possible biomarkers and therapeutic targets for early diagnosis and treatment of ASD.展开更多
Autism spectrum disorder(ASD)is a serious neurodevelopmental disorder,the etiology and mechanism of which are not yet clear.Studies have shown that folate deficiency can lead to abnormalities in the de-velopment of th...Autism spectrum disorder(ASD)is a serious neurodevelopmental disorder,the etiology and mechanism of which are not yet clear.Studies have shown that folate deficiency can lead to abnormalities in the de-velopment of the central nervous system.Patients with autism spectrum disorders develop folate-alpha recep-tor autoantibodies.Folate-alpha receptor autoantibodies block folate transport,leading to a deficiency of folate in nerve tissues.Folate is effective in treating patients with folate-alpha receptor autoantibodies.展开更多
Autism spectrum disorder(ASD)is a neurological disorder in which a significant number of children experience a developmental regression characterized by a loss of previously-acquired skills and abilities.Loss of neuro...Autism spectrum disorder(ASD)is a neurological disorder in which a significant number of children experience a developmental regression characterized by a loss of previously-acquired skills and abilities.Loss of neurological function in ASD,as observed in affected children who have regressed,can be explained as neurodegeneration.Although there is research evidence of neurodegeneration or progressive encephalopathy in ASD,the issue of neurodegeneration in ASD is still under debate.Evidence of neurodegeneration in the brain in ASD includes:(1)neuronal cell loss,(2)activated microglia and astrocytes,(3)proinflammatory cytokines,(4)oxidative stress,and(5)elevated 8-oxo-guanosine levels.The evidence from this review suggests that neurodegeneration underlies the loss of neurological function in children with ASD who have experienced regression and loss of previously acquired skills and abilities,and that research into treatments to address the issue of neurodegeneration in ASD are warranted.展开更多
Background With increasing numbers of individuals diagnosed with autism spectrum disorder(ASD)and with affirmation of applied behavior analysis(ABA)as an evidence-based standard of care for ASD,there has been a prolif...Background With increasing numbers of individuals diagnosed with autism spectrum disorder(ASD)and with affirmation of applied behavior analysis(ABA)as an evidence-based standard of care for ASD,there has been a proliferation of agencies offering ABA services over the last several decades.Disagreement exists among ABA providers and health plans that reimburse those providers on the optimal number of hours of ABA services that should be reimbursed.This study aims to understand whether children who receive more hours of ABA therapy achieve better outcomes and to evaluate the impact of the COVID-19-induced shift to telehealth clinical supervision on outcomes.Methods A retrospective cohort analysis was performed using data from the Vineland 3 Comprehensive Interview Form to assess function throughout ABA treatment.Paired sample t tests,independent sample t tests,Cohen’s D,and Pearson correlations were used to determine relationships between Vineland scores and input variables including hours of service and modality of supervision(in-person vs.telehealth).Results While statistically and clinically significant improvements in function were observed,children appear to have improved outcomes independent of the number of hours of service received.There were also no significant associations between modality of supervision and Vineland standard scores.Conclusions These findings challenge prior research that demonstrated a linear dose–response relationship.By tailoring treatment dosage to the individual client’s needs,providers may be able to better maximize functional progress of the client,to preserve family time,and to utilize health plan dollars more efficiently.展开更多
文摘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.
文摘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.
文摘Autism Spectrum Disorder(ASD)is a neurodevelopmental condition characterized by significant challenges in social interaction,communication,and repetitive behaviors.Timely and precise ASD detection is crucial,particularly in regions with limited diagnostic resources like Pakistan.This study aims to conduct an extensive comparative analysis of various machine learning classifiers for ASD detection using facial images to identify an accurate and cost-effective solution tailored to the local context.The research involves experimentation with VGG16 and MobileNet models,exploring different batch sizes,optimizers,and learning rate schedulers.In addition,the“Orange”machine learning tool is employed to evaluate classifier performance and automated image processing capabilities are utilized within the tool.The findings unequivocally establish VGG16 as the most effective classifier with a 5-fold cross-validation approach.Specifically,VGG16,with a batch size of 2 and the Adam optimizer,trained for 100 epochs,achieves a remarkable validation accuracy of 99% and a testing accuracy of 87%.Furthermore,the model achieves an F1 score of 88%,precision of 85%,and recall of 90% on test images.To validate the practical applicability of the VGG16 model with 5-fold cross-validation,the study conducts further testing on a dataset sourced fromautism centers in Pakistan,resulting in an accuracy rate of 85%.This reaffirms the model’s suitability for real-world ASD detection.This research offers valuable insights into classifier performance,emphasizing the potential of machine learning to deliver precise and accessible ASD diagnoses via facial image analysis.
文摘Objective:autism spectrum disorder(ASD),a serious disorder that begins early in life,con-tinues throughout the lifespan.Children with ASD who are diagnosed early are more responsive to therapeutic interventions and have less social and language impair-ment than children diagnosed later;however,current di-agnostic measures are mostly applied to children older than one year and lack the appropriate biological markers for early diagnosis of ASD.Using bioinformatic analy-sis,this study explores the molecular information mech-anism of ASD.Method:in this study,we used dataset GSE6575 from Gene Expression Omnibus(GEO)to an-alyze the mRNA expression profile of ASD,including 35 ASD samples and 12 normal control samples looking for different genes and we did enrichment analysis of those genes.We then used the STRING database to construct a protein-protein interaction(PPI)network of differential genes.Finally,Cytoscape plug-in cytoHubba was used to search for hub genes.The diagnostic value of the hub genes was verified by subject operating characteristic curves.Result:we looked for 50 different genes and did an enrichment analysis of those genes.The results of the enrichment analysis showed that these differential genes were mainly concentrated in the response to viruses,the immune regulation of inflammation and energy metabo-lism.Using Cytoscape plug-in cytoHubba,we found ten different genes.We drew ROC curves for all ten genes among which two genes,interleukin 2 receptor subunit beta(IL2Rβ)and perforin 1(PRF1),had good sensitivity and specificity for the early diagnosis of autism.The ar-eas under the ROC curves were 0.855,0.830 for IL2Rβ,PRF1.Conclusion:data analysis using the GEO data-base can provide new insights into the etiology of ASD as well as some possible biomarkers and therapeutic targets for early diagnosis and treatment of ASD.
基金Yunnan Provincial Department of Education Scien-tific Research Fund Project(K13225116).
文摘Autism spectrum disorder(ASD)is a serious neurodevelopmental disorder,the etiology and mechanism of which are not yet clear.Studies have shown that folate deficiency can lead to abnormalities in the de-velopment of the central nervous system.Patients with autism spectrum disorders develop folate-alpha recep-tor autoantibodies.Folate-alpha receptor autoantibodies block folate transport,leading to a deficiency of folate in nerve tissues.Folate is effective in treating patients with folate-alpha receptor autoantibodies.
文摘Autism spectrum disorder(ASD)is a neurological disorder in which a significant number of children experience a developmental regression characterized by a loss of previously-acquired skills and abilities.Loss of neurological function in ASD,as observed in affected children who have regressed,can be explained as neurodegeneration.Although there is research evidence of neurodegeneration or progressive encephalopathy in ASD,the issue of neurodegeneration in ASD is still under debate.Evidence of neurodegeneration in the brain in ASD includes:(1)neuronal cell loss,(2)activated microglia and astrocytes,(3)proinflammatory cytokines,(4)oxidative stress,and(5)elevated 8-oxo-guanosine levels.The evidence from this review suggests that neurodegeneration underlies the loss of neurological function in children with ASD who have experienced regression and loss of previously acquired skills and abilities,and that research into treatments to address the issue of neurodegeneration in ASD are warranted.
基金The authors would like to sincerely thank the Kyo Scientific Advisory Board members Dr.Catherine Lord,Dr.Janet Twyman,and Dr.Fred Volkmar for their contributions to this paper.
文摘Background With increasing numbers of individuals diagnosed with autism spectrum disorder(ASD)and with affirmation of applied behavior analysis(ABA)as an evidence-based standard of care for ASD,there has been a proliferation of agencies offering ABA services over the last several decades.Disagreement exists among ABA providers and health plans that reimburse those providers on the optimal number of hours of ABA services that should be reimbursed.This study aims to understand whether children who receive more hours of ABA therapy achieve better outcomes and to evaluate the impact of the COVID-19-induced shift to telehealth clinical supervision on outcomes.Methods A retrospective cohort analysis was performed using data from the Vineland 3 Comprehensive Interview Form to assess function throughout ABA treatment.Paired sample t tests,independent sample t tests,Cohen’s D,and Pearson correlations were used to determine relationships between Vineland scores and input variables including hours of service and modality of supervision(in-person vs.telehealth).Results While statistically and clinically significant improvements in function were observed,children appear to have improved outcomes independent of the number of hours of service received.There were also no significant associations between modality of supervision and Vineland standard scores.Conclusions These findings challenge prior research that demonstrated a linear dose–response relationship.By tailoring treatment dosage to the individual client’s needs,providers may be able to better maximize functional progress of the client,to preserve family time,and to utilize health plan dollars more efficiently.
