We performed a PubMed search for microRNAs in autism spectrum disorder that could serve as diagnostic biomarkers in patients and selected 17 articles published from January 2008 to December 2023,of which 4 studies wer...We performed a PubMed search for microRNAs in autism spectrum disorder that could serve as diagnostic biomarkers in patients and selected 17 articles published from January 2008 to December 2023,of which 4 studies were performed with whole blood,4 with blood plasma,5 with blood serum,1 with serum neural cell adhesion molecule L1-captured extracellular vesicles,1 with blood cells,and 2 with peripheral blood mononuclear cells.Most of the studies involved children and the study cohorts were largely males.Many of the studies had performed microRNA sequencing or quantitative polymerase chain reaction assays to measure microRNA expression.Only five studies had used real-time polymerase chain reaction assay to validate microRNA expression in autism spectrum disorder subjects compared to controls.The microRNAs that were validated in these studies may be considered as potential candidate biomarkers for autism spectrum disorder and include miR-500a-5p,-197-5p,-424-5p,-664a-3p,-365a-3p,-619-5p,-664a-3p,-3135a,-328-3p,and-500a-5p in blood plasma and miR-151a-3p,-181b-5p,-320a,-328,-433,-489,-572,-663a,-101-3p,-106b-5p,-19b-3p,-195-5p,and-130a-3p in blood serum of children,and miR-15b-5p and-6126 in whole blood of adults.Several important limitations were identified in the studies reviewed,and need to be taken into account in future studies.Further studies are warranted with children and adults having different levels of autism spectrum disorder severity and consideration should be given to using animal models of autism spectrum disorder to investigate the effects of suppressing or overexpressing specific microRNAs as a novel therapy.展开更多
BACKGROUND Autism spectrum disorder(ASD)is a complex neurodevelopmental disorder with multifaceted origins.In recent studies,neuroinflammation and immune dysregulation have come to the forefront in its pathogenesis.Th...BACKGROUND Autism spectrum disorder(ASD)is a complex neurodevelopmental disorder with multifaceted origins.In recent studies,neuroinflammation and immune dysregulation have come to the forefront in its pathogenesis.There are studies suggesting that stem cell therapy may be effective in the treatment of ASD.AIM To evolve the landscape of ASD treatment,focusing on the potential benefits and safety of stem cell transplantation.METHODS A detailed case report is presented,displaying the positive outcomes observed in a child who underwent intrathecal and intravenous Wharton’s jelly-derived mesenchymal stem cells(WJ-MSCs)transplantation combined with neurorehabilitation.RESULTS The study demonstrates a significant improvement in the child’s functional outcomes(Childhood Autism Rating Scale,Denver 2 Developmental Screening Test),especially in language and gross motor skills.No serious side effects were encountered during the 2-year follow-up.CONCLUSION The findings support the safety and effectiveness of WJ-MSC transplantation in managing ASD.展开更多
The effective intervention strategy for autism spectrum disorder(ASD)are currently limited.Herein,we attempted to evaluate the potential of L-proline(Pro),a multifunctional amino acid,in ameliorating autismlike behavi...The effective intervention strategy for autism spectrum disorder(ASD)are currently limited.Herein,we attempted to evaluate the potential of L-proline(Pro),a multifunctional amino acid,in ameliorating autismlike behaviors and clarify the molecular mechanisms involved by using the typical valproic acid(VPA)-induced mouse model of ASD.Pro significantly attenuates repetitive behaviors and social dysfunction in ASD mice.The correlation analysis revealed that the beneficial effects of Pro on autism-like behaviors are related to the modulation of gut microbiota structure and composition.The histological analysis revealed that Pro could reverse the decrease of Nissl-positive cells in the prefrontal cortex(PFC)induced by VPA exposure.RNA sequencing demonstrated that Pro can also alter the PFC transcriptomic profile distinguished by the regulation of genes involved in Parkinson disease,neuroactive ligand-receptor interaction,oxidative phosphorylation,and mitogen activated protein kinase signaling pathway.Overall,dietary Pro supplementation may be a promising intervention strategy for ASD.展开更多
BACKGROUND Early diagnosis and therapeutic interventions can greatly enhance the developmental trajectory of children with autism spectrum disorder(ASD).However,the etiology of ASD is not completely understood.The pre...BACKGROUND Early diagnosis and therapeutic interventions can greatly enhance the developmental trajectory of children with autism spectrum disorder(ASD).However,the etiology of ASD is not completely understood.The presence of confounding factors from environment and genetics has increased the difficulty of the identification of diagnostic biomarkers for ASD.AIM To estimate and interpret the causal relationship between ASD and metabolite profile,taking into consideration both genetic and environmental influences.METHODS A two-sample Mendelian randomization(MR)analysis was conducted using summarized data from large-scale genome-wide association studies(GWAS)including a metabolite GWAS dataset covering 453 metabolites from 7824 European and an ASD GWAS dataset comprising 18381 ASD cases and 27969 healthy controls.Metabolites in plasma were set as exposures with ASD as the main outcome.The causal relationships were estimated using the inverse variant weight(IVW)algorithm.We also performed leave-one-out sensitivity tests to validate the robustness of the results.Based on the drafted metabolites,enrichment analysis was conducted to interpret the association via constructing a protein-protein interaction network with multi-scale evidence from databases including Infinome,SwissTargetPrediction,STRING,and Metascape.RESULTS Des-Arg(9)-bradykinin was identified as a causal metabolite that increases the risk of ASD(β=0.262,SE=0.064,P_(IVW)=4.64×10^(-5)).The association was robust,with no significant heterogeneity among instrument variables(P_(MR Egger)=0.663,P_(IVW)=0.906)and no evidence of pleiotropy(P=0.949).Neuroinflammation and the response to stimulus were suggested as potential biological processes mediating the association between Des-Arg(9)bradykinin and ASD.CONCLUSION Through the application of MR,this study provides practical insights into the potential causal association between plasma metabolites and ASD.These findings offer perspectives for the discovery of diagnostic or predictive biomarkers to support clinical practice in treating ASD.展开更多
BACKGROUND Autism spectrum disorder(ASD)presents unique challenges related to feeding and nutritional management.Children with ASD often experience feeding difficulties,including food selectivity,refusal,and gastroint...BACKGROUND Autism spectrum disorder(ASD)presents unique challenges related to feeding and nutritional management.Children with ASD often experience feeding difficulties,including food selectivity,refusal,and gastrointestinal issues.Various interventions have been explored to address these challenges,including dietary modifications,vitamin supplementation,feeding therapy,and behavioral interventions.AIM To provide a comprehensive overview of the current evidence on nutritional management in ASD.We examine the effectiveness of dietary interventions,vitamin supplements,feeding therapy,behavioral interventions,and mealtime practices in addressing the feeding challenges and nutritional needs of children with ASD.METHODS We systematically searched relevant literature up to June 2024,using databases such as PubMed,PsycINFO,and Scopus.Studies were included if they investigated dietary interventions,nutritional supplements,or behavioral strategies to improve feeding behaviors in children with ASD.We assessed the quality of the studies and synthesized findings on the impact of various interventions on feeding difficulties and nutritional outcomes.Data extraction focused on intervention types,study designs,participant characteristics,outcomes measured,and intervention effectiveness.RESULTS The review identified 316 studies that met the inclusion criteria.The evidence indicates that while dietary interventions and nutritional supplements may offer benefits in managing specific symptoms or deficiencies,the effectiveness of these approaches varies.Feeding therapy and behavioral interventions,including gradual exposure and positive reinforcement,promise to improve food acceptance and mealtime behaviors.The findings also highlight the importance of creating supportive mealtime environments tailored to the sensory and behavioral needs of children with ASD.CONCLUSION Nutritional management for children with ASD requires a multifaceted approach that includes dietary modifications,supplementation,feeding therapy,and behavioral strategies.The review underscores the need for personalized interventions and further research to refine treatment protocols and improve outcomes.Collaborative efforts among healthcare providers,educators,and families are essential to optimize this population's nutritional health and feeding practices.Enhancing our understanding of intervention sustainability and long-term outcomes is essential for optimizing care and improving the quality of life for children with ASD and their families.展开更多
Autism spectrum disorder(ASD)is a complex neurodevelopmental disorder affecting over 2%of the global population,marked by social communication deficits and repetitive behaviors.Kabatas et al explored the efficacy and ...Autism spectrum disorder(ASD)is a complex neurodevelopmental disorder affecting over 2%of the global population,marked by social communication deficits and repetitive behaviors.Kabatas et al explored the efficacy and safety of Wharton’s jelly-derived mesenchymal stem cell(WJ-MSC)therapy in a 4-year-old child with ASD.Using the childhood autism rating scale and Denver II develop-mental screening test,significant improvements were seen after six WJ-MSC sessions,with no adverse events over 2 years.Despite promising results,the study’s single-case design limits generalizability.Larger,multi-center trials are needed to validate the findings and assess long-term effects of WJ-MSC therapy in ASD.展开更多
Difficulty in communicating and interacting with other people are mainly due to the neurological disorder called autism spectrum disorder(ASD)diseases.These diseases can affect the nerves at any stage of the human bein...Difficulty in communicating and interacting with other people are mainly due to the neurological disorder called autism spectrum disorder(ASD)diseases.These diseases can affect the nerves at any stage of the human being in childhood,adolescence,and adulthood.ASD is known as a behavioral disease due to the appearances of symptoms over thefirst two years that continue until adulthood.Most of the studies prove that the early detection of ASD helps improve the behavioral characteristics of patients with ASD.The detection of ASD is a very challenging task among various researchers.Machine learning(ML)algorithms still act very intelligent by learning the complex data and pre-dicting quality results.In this paper,ensemble ML techniques for the early detec-tion of ASD are proposed.In this detection,the dataset isfirst processed using three ML algorithms such as sequential minimal optimization with support vector machine,Kohonen self-organizing neural network,and random forest algorithm.The prediction results of these ML algorithms(ensemble)further use the bagging concept called max voting to predict thefinal result.The accuracy,sensitivity,and specificity of the proposed system are calculated using confusion matrix.The pro-posed ensemble technique performs better than state-of-the art ML algorithms.展开更多
Background: Active video games(AVGs) encourage whole body movements to interact or control the gaming system, allowing the opportunity for skill development. Children with autism spectrum disorder(ASD) show decreased ...Background: Active video games(AVGs) encourage whole body movements to interact or control the gaming system, allowing the opportunity for skill development. Children with autism spectrum disorder(ASD) show decreased fundamental movement skills in comparison with their typically developing(TD) peers and might benefit from this approach. This pilot study investigates whether playing sports AVGs can increase the actual and perceived object control(OC) skills of 11 children with ASD aged 6–10 years in comparison to 19 TD children of a similar age.Feasibility was a secondary aim.Methods: Actual(Test of Gross Motor Development) and perceived OC skills(Pictorial Scale of Perceived Movement Skill Competence for Young Children) were assessed before and after the intervention(6 × 45 min).Results: Actual skill scores were not improved in either group. The ASD group improved in perceived skill. All children completed the required dose and parents reported the intervention was feasible.Conclusion: The use of AVGs as a play-based intervention may not provide enough opportunity for children to perform the correct movement patterns to influence skill. However, play of such games may influence perceptions of skill ability in children with ASD, which could improve motivation to participate in physical activities.展开更多
Objective The aim of this study is to estimate the prevalence of autism spectrum disorder (ASD) among 18-36 month old children in the Tianjin Municipality of China, and to identify early signs of autistic children a...Objective The aim of this study is to estimate the prevalence of autism spectrum disorder (ASD) among 18-36 month old children in the Tianjin Municipality of China, and to identify early signs of autistic children and the predictability of each individual symptom. Methods A total of 8 000 children were screened to do a questionnaire based on CHAT modified to include more early signs of autism at the age of 28-36 months. Then the at-risk children were reexamined 1.5 years later and ASD children were identified based on DSM-IV. Early signs of autism were analyzed retrospectively by using discriminant function analysis performed among ASD children, children not followed up and children followed up but failing to meet ASD criteria. Results Three hundred and sixty seven children were screened as being at-risk to ASD, and 22 of them were identified as having ASD in the subsequent diagnosis. The prevalence of ASD was 27.5 per 10 000 in Tianjin of China with a male to female ratio of 4:1. Items addressing social interactions and communications had higher predictability than other items to distinguish autistic children from non-autistic ones. Pretend play, functional play, showing and reading parents' facial expressions distinguished autistic children from those not followed up, nevertheless those followed up but failing to meet ASD criteria were not included.Conclusion The prevalence of ASD found in our study was lower than that reported in some studies by western researchers. Autism has its specific symptoms, such as deficits in social awareness, social relatedness, and social referencing.展开更多
Autism spectrum disorder(ASD)is typically characterized by common deficits in social skills and repetitive/stereotyped behaviors.It is widely accepted that genetic and environmental factors solely or in combination ca...Autism spectrum disorder(ASD)is typically characterized by common deficits in social skills and repetitive/stereotyped behaviors.It is widely accepted that genetic and environmental factors solely or in combination cause ASD.However,the underlying pathogenic mechanism is unclear due to its highly heterogeneous nature.To better understand the pathogenesis of ASD,various animal models have been generated,which can be generally divided into genetic,environment-induced,and idiopathic animal models.In this review,we summarize the common animals used for ASD study and then discuss the applications,clinical insights,as well as challenges and prospects of current ASD animal models.展开更多
Autism spectrum disorders(ASD)comprise a group of neurodevelopmental abnormalities that begin in early childhood and are characterized by impairment of social communication and behavioral problems including restricted...Autism spectrum disorders(ASD)comprise a group of neurodevelopmental abnormalities that begin in early childhood and are characterized by impairment of social communication and behavioral problems including restricted interests and repetitive behaviors.Several genes have been implicated in the pathogenesis of ASD,most of them are involved in neuronal synaptogenesis.A number of environmental factors and associated conditions such as gastrointestinal(GI)abnormalities and immune imbalance have been linked to the pathophysiology of ASD.According to the March 2012 report released by United States Centers for Disease Control and Prevention,the prevalence of ASD has sharply increased during the recent years and one out of 88 children suffers now from ASD symptoms.Although there is a strong genetic base for the disease,several associated factors could have a direct link to the pathogenesis of ASD or act as modifiers of the genes thus aggravating the initial problem.Many children suffering from ASD have GI problems such as abdominal pain,chronic diarrhea,constipation,vomiting,gastroesophageal reflux,and intestinal infections.A number of studies focusing on the intestinal mucosa,its permeability,abnormal gut development,leaky gut,and other GI problem raised many questions but studies were somehow inconclusive and an expert panel of American Academy of Pediatrics has strongly recommended further investigation in these areas.GI tract has a direct connection with the immune system and an imbalanced immune response is usually seen in ASD children.Maternal infection or autoimmune diseases have been suspected.Activation of the immune system during early development may have deleterious effect on various organs including the nervous system.In this review we revisited briefly the GI and immune system abnormalities and neuropeptide imbalance and their role in the pathophysiology of ASD and discussed some future research directions.展开更多
BACKGROUND Children diagnosed with autism spectrum disorder(ASD)may have great difficulties when their routines change,and this may affect the psychological wellbeing of their parents.For this reason,it is important t...BACKGROUND Children diagnosed with autism spectrum disorder(ASD)may have great difficulties when their routines change,and this may affect the psychological wellbeing of their parents.For this reason,it is important to examine studies that address the mental health of parents in order to adapt to the coronavirus disease 2019(COVID-19)pandemic.AIM To determine the mental health status of parents with children diagnosed with ASD in the COVID-19 pandemic.METHODS The study,which is a systematic review,was conducted between December 15,2020 and December 30,2020 by scanning articles in English.The Scopus,Science Direct,PubMed,Cochrane,Web of Science,and Google Scholar databases were used for scanning.The keywords COVID-19 AND(“autism”OR“autistic”OR“autism spectrum disorder”)AND parent AND(“mental health”OR“anxiety”OR“stress”)were used in the search process.The inclusion criteria in the study were findings regarding the mental health of parents with children diagnosed with ASD in the COVID-19 pandemic,addressing their anxiety and stress situations,being a research article,and accessing the full text of the article.RESULTS In the study,a total of 6389 articles were reached,and the full texts of 173 articles were evaluated for eligibility.After the articles excluded by the full-text search were eliminated,12 studies involving 7105 parents were included in the analysis.The findings obtained from the articles containing data on mental health in the COVID-19 pandemic of parents with children with autism spectrum disorder were discussed in three groups.These were findings on the experiences of parents with children with ASD in the COVID-19 pandemic regarding the areas where parents with children with ASD need support in the COVID-19 pandemic and methods of coping with the COVID-19 pandemic for parents with children with ASD.In the systematic review,it was determined that the anxiety and stress of the parents increased,they needed more support compared to the pre-pandemic period,and they had difficulty coping.CONCLUSION In this systematic review,it was concluded that the COVID-19 pandemic negatively affected the mental health of the parents of children with ASD.展开更多
Autism spectrum disorder is classified as a spectrum of neurodevelopmental disorders with an unknown definitive etiology.Individuals with autism spectrum disorder show deficits in a variety of areas including cognitio...Autism spectrum disorder is classified as a spectrum of neurodevelopmental disorders with an unknown definitive etiology.Individuals with autism spectrum disorder show deficits in a variety of areas including cognition,memory,attention,emotion recognition,and social skills.With no definitive treatment or cure,the main interventions for individuals with autism spectrum disorder are based on behavioral modulations.Recently,noninvasive brain modulation techniques including repetitive transcranial magnetic stimulation,intermittent theta burst stimulation,continuous theta burst stimulation,and transcranial direct current stimulation have been studied for their therapeutic properties of modifying neuroplasticity,particularly in individuals with autism spectrum disorder.Preliminary evidence from small cohort studies,pilot studies,and clinical trials suggests that the various noninvasive brain stimulation techniques have therapeutic benefits for treating both behavioral and cognitive manifestations of autism spectrum disorder.However,little data is available for quantifying the clinical significance of these findings as well as the long-term outcomes of individuals with autism spectrum disorder who underwent transcranial stimulation.The objective of this review is to highlight the most recent advancements in the application of noninvasive brain modulation technology in individuals with autism spectrum disorder.展开更多
Background:The Canadian 24-hour movement behavior(24-HMB)guidelines suggest that a limited amount of screen time use,an adequate level of physical activity(PA),and sufficient sleep duration are beneficial for ensuring...Background:The Canadian 24-hour movement behavior(24-HMB)guidelines suggest that a limited amount of screen time use,an adequate level of physical activity(PA),and sufficient sleep duration are beneficial for ensuring and optimizing the health and quality of life(QoL)of children and adolescents.However,this topic has yet to be examined for children and adolescents with autism spectrum disorder(ASD)specifically.The aim of this cross-sectional observational study was to examine the associations between meeting 24-HMB guidelines and several QoLrelated indicators among a national sample of American children and adolescents with ASD.Methods:Data were taken from the 2020 U.S.National Survey of Children’s Health dataset.Participants(n=956)aged 617 years and currently diagnosed with ASD were included.The exposure of interest was adherence to the 24-HMB guidelines.Outcomes were QoL indicators,including learning interest/curiosity,repeating grades,adaptive ability,victimization by bullying,and behavioral problems.Categorical variables were described with unweighted sample counts and weighted percentages.Age,sex,race,preterm birth status,medication,behavioral treatment,household poverty level,and the educational level of the primary caregivers were included as covariates.Odds ratio(OR)and 95%confidence interval(95%CI)were used to present the strength of association between adherence to 24-HMB guidelines and QoL-related indicators.Results:Overall,452 participants(45.34%)met 1 of the 3 recommendations,216(22.65%)met 2 recommendations,whereas only 39 participants(5.04%)met all 3 recommendations.Compared with meeting none of the recommendations,meeting both sleep duration and PA recommendations(OR=3.92,95%CI:1.639.48,p<0.001)or all 3 recommendations(OR=2.11,95%CI:1.034.35,p=0.04)was associated with higher odds of showing learning interest/curiosity.Meeting both screen time and PA recommendations(OR=0.15,95%CI:0.040.61,p<0.05)or both sleep duration and PA recommendations(OR=0.24,95%CI:0.070.87,p<0.05)was associated with lower odds of repeating any grades.With respect to adaptive ability,participants who met only the PA recommendation of the 24-HMB were less likely to have difficulties dressing or bathing(OR=0.11,95%CI:0.020.66,p<0.05)than those who did not.For participants who met all 3 recommendations(OR=0.38,95%CI:0.150.99,p=0.05),the odds of being victimized by bullying was lower.Participants who adhered to both sleep duration and PA recommendations were less likely to present with severe behavioral problems(OR=0.17,95%CI:0.040.71,p<0.05)than those who did not meet those guidelines.Conclusion:Significant associations were found between adhering to 24-HMB guidelines and selected QoL indicators.These findings highlight the importance of maintaining a healthy lifestyle as a key factor in promoting and preserving the QoL of children with ASD.展开更多
Objective:The therapeutic approach of traditional chinese Medicine(TCM)in autism spectrum disorder(ASD)is a functional one.To study the efficacy,safety and functional brain change from the use of tongue acupuncture(TA...Objective:The therapeutic approach of traditional chinese Medicine(TCM)in autism spectrum disorder(ASD)is a functional one.To study the efficacy,safety and functional brain change from the use of tongue acupuncture(TAC)on ASD children.Methods:21 autistic boys(3e16 years old)were randomly assigned to TAC group(TAC:n Z 12;receiving daily TAC for 8 weeks)or control(C:n Z 9;no acupuncture).Primary outcome measures included Autism Treatment Evaluation Checklist(ATEC),Reynell Language Developmental Scale,Symbolic Play Test(SPT),Functional Independence Measure for Children(WeeFIM),Clinical Global Impression(CGI)Scale and Cerebral FDG Metabolism by PET.Results:There were significant improvement in speech domain of ATEC(p Z 0.030),Self-care domain of WeeFIM(p Z 0.021),cognition domain of WeeFIM(p Z 0.001)and Total score domain of WeeFIM(p Z 0.001)in TAC group compared to the C group.There were significant difference in positive clinical response between C and TAC group in language(p Z 0.0211),functional(pZ0.0011),parental Impression criteria(pZ0.0003)and overall cerebral glucose metabolism(p Z 0.0451)using ROC criteria.No significant association of PET Glucose Metabolism with Clinical response was found.None of the children developed any side-effects.Conclusion:A short course of TAC can improve specific functions in children with autism spectrum disorder,especially speech and cognition function.No statistical significant association of PET Glucose Metabolism with Clinical response.Larger scale with more sample size trial should be done for further investigation.展开更多
Objective:This study aimed to explore the perceptions of parents of children with autism spectrum disorder(ASD)and their coping strategies.Methods:The data of the study was collected using face-to-face semi-structured...Objective:This study aimed to explore the perceptions of parents of children with autism spectrum disorder(ASD)and their coping strategies.Methods:The data of the study was collected using face-to-face semi-structured interviews.The participants were purposefully selected from the three schools in Mpumalanga Province because they had children diagnosed with ASD and data was analyzed using thematic content analysis.In this study,primary caregivers were selected.In the end,12 women were interviewed,and the data saturation was reached.Ethical considerations and measures to ensure trustworthiness were carried out throughout the study.Results:The findings revealed two themes:caregivers’understanding and misconceptions of ASD and coping mechanisms used in dealing challenges of caring for a child with ASD;and five subthemes:lack of knowledge,cultural beliefs,prayer,strong support system,and acceptance.Conclusion:Based on the findings,more awareness campaigns should be done on ASD to increase parents’understanding of the condition.Understanding the cultural beliefs of parents regarding ASD may assist health care professionals in developing care practices that are accepted in their culture,and may enhance parents’coping skills.展开更多
Autism spectrum disorder(ASD) is a neurodevelopmental disorder characterized by high heritability. Recently, autism, the most profound form of ASD, has been increasingly attributed to synaptic abnormalities. Postsyn...Autism spectrum disorder(ASD) is a neurodevelopmental disorder characterized by high heritability. Recently, autism, the most profound form of ASD, has been increasingly attributed to synaptic abnormalities. Postsynaptic density 95(PSD95), encoding PSD protein-95, was found essential for synaptic formation, maturation and plasticity at a PSD of excitatory synapse. It is possibly a crucial candidate gene for the pathogenesis of ASD. To identify the relationship between the rs13331 of PSD95 gene and ASD, we performed a case-control study in 212 patients and 636 controls in a Chinese population by using a polymerase chain reaction-restriction fragment length polymerase(PCR-RFLP) assay. The results showed that in genetic analysis of the heterozygous model, an association between the T allele of the rs13331 and ASD was found in the dominant model(OR=1.709, 95% CI 1.227–2.382, P=0.002) and the additive model(OR=1.409, 95% CI=1.104–1.800, P=0.006). Our data indicate that the genetic mutation C〉T at the rs13331 in the PSD95 gene is strikingly associated with an increased risk of ASD.展开更多
Autism Spectrum Disorder (ASD) is a developmental disorderwhose symptoms become noticeable in early years of the age though it canbe present in any age group. ASD is a mental disorder which affects the communicational...Autism Spectrum Disorder (ASD) is a developmental disorderwhose symptoms become noticeable in early years of the age though it canbe present in any age group. ASD is a mental disorder which affects the communicational, social and non-verbal behaviors. It cannot be cured completelybut can be reduced if detected early. An early diagnosis is hampered by thevariation and severity of ASD symptoms as well as having symptoms commonly seen in other mental disorders as well. Nowadays, with the emergenceof deep learning approaches in various fields, medical experts can be assistedin early diagnosis of ASD. It is very difficult for a practitioner to identifyand concentrate on the major feature’s leading to the accurate prediction ofthe ASD and this arises the need for having an automated approach. Also,presence of different symptoms of ASD traits amongst toddlers directs tothe creation of a large feature dataset. In this study, we propose a hybridapproach comprising of both, deep learning and Explainable Artificial Intelligence (XAI) to find the most contributing features for the early and preciseprediction of ASD. The proposed framework gives more accurate predictionalong with the recommendations of predicted results which will be a vital aidclinically for better and early prediction of ASD traits amongst toddlers.展开更多
A neurological abnormality called autism spectrum disorder(ASD)affects how a person perceives and interacts with others,leading to social interaction and communication issues.Limited and recurring behavioural patterns...A neurological abnormality called autism spectrum disorder(ASD)affects how a person perceives and interacts with others,leading to social interaction and communication issues.Limited and recurring behavioural patterns are another feature of the illness.Multiple mutations throughout development are the source of the neurodevelopmental disorder autism.However,a well-established model and perfect treatment for this spectrum disease has not been discovered.The rising era of the clustered regularly interspaced palindromic repeats(CRISPR)-associated protein 9(Cas9)system can streamline the complexity underlying the pathogenesis of ASD.The CRISPR-Cas9 system is a powerful genetic engineering tool used to edit the genome at the targeted site in a precise manner.The major hurdle in studying ASD is the lack of appropriate animal models presenting the complex symptoms of ASD.Therefore,CRISPR-Cas9 is being used worldwide to mimic the ASD-like pathology in various systems like in vitro cell lines,in vitro 3D organoid models and in vivo animal models.Apart from being used in establishing ASD models,CRISPR-Cas9 can also be used to treat the complexities of ASD.The aim of this review was to summarize and critically analyse the CRISPRCas9-mediated discoveries in the field of ASD.展开更多
The purpose of this study was to compare the effects of sedentary video gaming (SVG), active video gaming (AVG), and brisk walking (WLK) on inhibition and reaction time using the Flanker task in boys with and without ...The purpose of this study was to compare the effects of sedentary video gaming (SVG), active video gaming (AVG), and brisk walking (WLK) on inhibition and reaction time using the Flanker task in boys with and without autism spectrum disorder (ASD). We had 9 participants with ASD and 10 age-matched participants without ASD perform 20-minute bouts of each activity, and then had them take the Flanker test. Dependent measures were reaction time (RT) and accuracy (ACC). A Chi-Square analysis revealed that the ASD and TD groups significantly differed in the percent of participants who improved in both of these measures. Next, we looked at each of the conditions exclusively within the ASD group and compared congruent and incongruent trials. In the AVG condition, participants improved a significantly higher percentage on ACC. In the SVG condition, participants improved a significantly higher percentage on incongruent in RT;for ACC, a higher percentage improved on the congruent trials. In WLK, participants improved a significantly higher percentage in RT in the congruent condition.展开更多
文摘We performed a PubMed search for microRNAs in autism spectrum disorder that could serve as diagnostic biomarkers in patients and selected 17 articles published from January 2008 to December 2023,of which 4 studies were performed with whole blood,4 with blood plasma,5 with blood serum,1 with serum neural cell adhesion molecule L1-captured extracellular vesicles,1 with blood cells,and 2 with peripheral blood mononuclear cells.Most of the studies involved children and the study cohorts were largely males.Many of the studies had performed microRNA sequencing or quantitative polymerase chain reaction assays to measure microRNA expression.Only five studies had used real-time polymerase chain reaction assay to validate microRNA expression in autism spectrum disorder subjects compared to controls.The microRNAs that were validated in these studies may be considered as potential candidate biomarkers for autism spectrum disorder and include miR-500a-5p,-197-5p,-424-5p,-664a-3p,-365a-3p,-619-5p,-664a-3p,-3135a,-328-3p,and-500a-5p in blood plasma and miR-151a-3p,-181b-5p,-320a,-328,-433,-489,-572,-663a,-101-3p,-106b-5p,-19b-3p,-195-5p,and-130a-3p in blood serum of children,and miR-15b-5p and-6126 in whole blood of adults.Several important limitations were identified in the studies reviewed,and need to be taken into account in future studies.Further studies are warranted with children and adults having different levels of autism spectrum disorder severity and consideration should be given to using animal models of autism spectrum disorder to investigate the effects of suppressing or overexpressing specific microRNAs as a novel therapy.
文摘BACKGROUND Autism spectrum disorder(ASD)is a complex neurodevelopmental disorder with multifaceted origins.In recent studies,neuroinflammation and immune dysregulation have come to the forefront in its pathogenesis.There are studies suggesting that stem cell therapy may be effective in the treatment of ASD.AIM To evolve the landscape of ASD treatment,focusing on the potential benefits and safety of stem cell transplantation.METHODS A detailed case report is presented,displaying the positive outcomes observed in a child who underwent intrathecal and intravenous Wharton’s jelly-derived mesenchymal stem cells(WJ-MSCs)transplantation combined with neurorehabilitation.RESULTS The study demonstrates a significant improvement in the child’s functional outcomes(Childhood Autism Rating Scale,Denver 2 Developmental Screening Test),especially in language and gross motor skills.No serious side effects were encountered during the 2-year follow-up.CONCLUSION The findings support the safety and effectiveness of WJ-MSC transplantation in managing ASD.
基金supported by Beijing Natural Science Foundation(7222249).
文摘The effective intervention strategy for autism spectrum disorder(ASD)are currently limited.Herein,we attempted to evaluate the potential of L-proline(Pro),a multifunctional amino acid,in ameliorating autismlike behaviors and clarify the molecular mechanisms involved by using the typical valproic acid(VPA)-induced mouse model of ASD.Pro significantly attenuates repetitive behaviors and social dysfunction in ASD mice.The correlation analysis revealed that the beneficial effects of Pro on autism-like behaviors are related to the modulation of gut microbiota structure and composition.The histological analysis revealed that Pro could reverse the decrease of Nissl-positive cells in the prefrontal cortex(PFC)induced by VPA exposure.RNA sequencing demonstrated that Pro can also alter the PFC transcriptomic profile distinguished by the regulation of genes involved in Parkinson disease,neuroactive ligand-receptor interaction,oxidative phosphorylation,and mitogen activated protein kinase signaling pathway.Overall,dietary Pro supplementation may be a promising intervention strategy for ASD.
基金Supported by The Guangdong Basic and Applied Basic Research Foundation,No.2023A1515011432The Guangzhou Science and Technology Planning Project,No.2023A04J0627and National Natural Science Foundation of China,No.82004256.
文摘BACKGROUND Early diagnosis and therapeutic interventions can greatly enhance the developmental trajectory of children with autism spectrum disorder(ASD).However,the etiology of ASD is not completely understood.The presence of confounding factors from environment and genetics has increased the difficulty of the identification of diagnostic biomarkers for ASD.AIM To estimate and interpret the causal relationship between ASD and metabolite profile,taking into consideration both genetic and environmental influences.METHODS A two-sample Mendelian randomization(MR)analysis was conducted using summarized data from large-scale genome-wide association studies(GWAS)including a metabolite GWAS dataset covering 453 metabolites from 7824 European and an ASD GWAS dataset comprising 18381 ASD cases and 27969 healthy controls.Metabolites in plasma were set as exposures with ASD as the main outcome.The causal relationships were estimated using the inverse variant weight(IVW)algorithm.We also performed leave-one-out sensitivity tests to validate the robustness of the results.Based on the drafted metabolites,enrichment analysis was conducted to interpret the association via constructing a protein-protein interaction network with multi-scale evidence from databases including Infinome,SwissTargetPrediction,STRING,and Metascape.RESULTS Des-Arg(9)-bradykinin was identified as a causal metabolite that increases the risk of ASD(β=0.262,SE=0.064,P_(IVW)=4.64×10^(-5)).The association was robust,with no significant heterogeneity among instrument variables(P_(MR Egger)=0.663,P_(IVW)=0.906)and no evidence of pleiotropy(P=0.949).Neuroinflammation and the response to stimulus were suggested as potential biological processes mediating the association between Des-Arg(9)bradykinin and ASD.CONCLUSION Through the application of MR,this study provides practical insights into the potential causal association between plasma metabolites and ASD.These findings offer perspectives for the discovery of diagnostic or predictive biomarkers to support clinical practice in treating ASD.
文摘BACKGROUND Autism spectrum disorder(ASD)presents unique challenges related to feeding and nutritional management.Children with ASD often experience feeding difficulties,including food selectivity,refusal,and gastrointestinal issues.Various interventions have been explored to address these challenges,including dietary modifications,vitamin supplementation,feeding therapy,and behavioral interventions.AIM To provide a comprehensive overview of the current evidence on nutritional management in ASD.We examine the effectiveness of dietary interventions,vitamin supplements,feeding therapy,behavioral interventions,and mealtime practices in addressing the feeding challenges and nutritional needs of children with ASD.METHODS We systematically searched relevant literature up to June 2024,using databases such as PubMed,PsycINFO,and Scopus.Studies were included if they investigated dietary interventions,nutritional supplements,or behavioral strategies to improve feeding behaviors in children with ASD.We assessed the quality of the studies and synthesized findings on the impact of various interventions on feeding difficulties and nutritional outcomes.Data extraction focused on intervention types,study designs,participant characteristics,outcomes measured,and intervention effectiveness.RESULTS The review identified 316 studies that met the inclusion criteria.The evidence indicates that while dietary interventions and nutritional supplements may offer benefits in managing specific symptoms or deficiencies,the effectiveness of these approaches varies.Feeding therapy and behavioral interventions,including gradual exposure and positive reinforcement,promise to improve food acceptance and mealtime behaviors.The findings also highlight the importance of creating supportive mealtime environments tailored to the sensory and behavioral needs of children with ASD.CONCLUSION Nutritional management for children with ASD requires a multifaceted approach that includes dietary modifications,supplementation,feeding therapy,and behavioral strategies.The review underscores the need for personalized interventions and further research to refine treatment protocols and improve outcomes.Collaborative efforts among healthcare providers,educators,and families are essential to optimize this population's nutritional health and feeding practices.Enhancing our understanding of intervention sustainability and long-term outcomes is essential for optimizing care and improving the quality of life for children with ASD and their families.
文摘Autism spectrum disorder(ASD)is a complex neurodevelopmental disorder affecting over 2%of the global population,marked by social communication deficits and repetitive behaviors.Kabatas et al explored the efficacy and safety of Wharton’s jelly-derived mesenchymal stem cell(WJ-MSC)therapy in a 4-year-old child with ASD.Using the childhood autism rating scale and Denver II develop-mental screening test,significant improvements were seen after six WJ-MSC sessions,with no adverse events over 2 years.Despite promising results,the study’s single-case design limits generalizability.Larger,multi-center trials are needed to validate the findings and assess long-term effects of WJ-MSC therapy in ASD.
文摘Difficulty in communicating and interacting with other people are mainly due to the neurological disorder called autism spectrum disorder(ASD)diseases.These diseases can affect the nerves at any stage of the human being in childhood,adolescence,and adulthood.ASD is known as a behavioral disease due to the appearances of symptoms over thefirst two years that continue until adulthood.Most of the studies prove that the early detection of ASD helps improve the behavioral characteristics of patients with ASD.The detection of ASD is a very challenging task among various researchers.Machine learning(ML)algorithms still act very intelligent by learning the complex data and pre-dicting quality results.In this paper,ensemble ML techniques for the early detec-tion of ASD are proposed.In this detection,the dataset isfirst processed using three ML algorithms such as sequential minimal optimization with support vector machine,Kohonen self-organizing neural network,and random forest algorithm.The prediction results of these ML algorithms(ensemble)further use the bagging concept called max voting to predict thefinal result.The accuracy,sensitivity,and specificity of the proposed system are calculated using confusion matrix.The pro-posed ensemble technique performs better than state-of-the art ML algorithms.
基金supported by an Alfred Deakin Fellowshipsupported by internal university funding
文摘Background: Active video games(AVGs) encourage whole body movements to interact or control the gaming system, allowing the opportunity for skill development. Children with autism spectrum disorder(ASD) show decreased fundamental movement skills in comparison with their typically developing(TD) peers and might benefit from this approach. This pilot study investigates whether playing sports AVGs can increase the actual and perceived object control(OC) skills of 11 children with ASD aged 6–10 years in comparison to 19 TD children of a similar age.Feasibility was a secondary aim.Methods: Actual(Test of Gross Motor Development) and perceived OC skills(Pictorial Scale of Perceived Movement Skill Competence for Young Children) were assessed before and after the intervention(6 × 45 min).Results: Actual skill scores were not improved in either group. The ASD group improved in perceived skill. All children completed the required dose and parents reported the intervention was feasible.Conclusion: The use of AVGs as a play-based intervention may not provide enough opportunity for children to perform the correct movement patterns to influence skill. However, play of such games may influence perceptions of skill ability in children with ASD, which could improve motivation to participate in physical activities.
基金support by the National Natural Science Foundation of China Grant No.81072313
文摘Objective The aim of this study is to estimate the prevalence of autism spectrum disorder (ASD) among 18-36 month old children in the Tianjin Municipality of China, and to identify early signs of autistic children and the predictability of each individual symptom. Methods A total of 8 000 children were screened to do a questionnaire based on CHAT modified to include more early signs of autism at the age of 28-36 months. Then the at-risk children were reexamined 1.5 years later and ASD children were identified based on DSM-IV. Early signs of autism were analyzed retrospectively by using discriminant function analysis performed among ASD children, children not followed up and children followed up but failing to meet ASD criteria. Results Three hundred and sixty seven children were screened as being at-risk to ASD, and 22 of them were identified as having ASD in the subsequent diagnosis. The prevalence of ASD was 27.5 per 10 000 in Tianjin of China with a male to female ratio of 4:1. Items addressing social interactions and communications had higher predictability than other items to distinguish autistic children from non-autistic ones. Pretend play, functional play, showing and reading parents' facial expressions distinguished autistic children from those not followed up, nevertheless those followed up but failing to meet ASD criteria were not included.Conclusion The prevalence of ASD found in our study was lower than that reported in some studies by western researchers. Autism has its specific symptoms, such as deficits in social awareness, social relatedness, and social referencing.
基金This work was supported by the National Natural Science Foundation of China(82071540)and Yunnan University(CZ21623201)。
文摘Autism spectrum disorder(ASD)is typically characterized by common deficits in social skills and repetitive/stereotyped behaviors.It is widely accepted that genetic and environmental factors solely or in combination cause ASD.However,the underlying pathogenic mechanism is unclear due to its highly heterogeneous nature.To better understand the pathogenesis of ASD,various animal models have been generated,which can be generally divided into genetic,environment-induced,and idiopathic animal models.In this review,we summarize the common animals used for ASD study and then discuss the applications,clinical insights,as well as challenges and prospects of current ASD animal models.
文摘Autism spectrum disorders(ASD)comprise a group of neurodevelopmental abnormalities that begin in early childhood and are characterized by impairment of social communication and behavioral problems including restricted interests and repetitive behaviors.Several genes have been implicated in the pathogenesis of ASD,most of them are involved in neuronal synaptogenesis.A number of environmental factors and associated conditions such as gastrointestinal(GI)abnormalities and immune imbalance have been linked to the pathophysiology of ASD.According to the March 2012 report released by United States Centers for Disease Control and Prevention,the prevalence of ASD has sharply increased during the recent years and one out of 88 children suffers now from ASD symptoms.Although there is a strong genetic base for the disease,several associated factors could have a direct link to the pathogenesis of ASD or act as modifiers of the genes thus aggravating the initial problem.Many children suffering from ASD have GI problems such as abdominal pain,chronic diarrhea,constipation,vomiting,gastroesophageal reflux,and intestinal infections.A number of studies focusing on the intestinal mucosa,its permeability,abnormal gut development,leaky gut,and other GI problem raised many questions but studies were somehow inconclusive and an expert panel of American Academy of Pediatrics has strongly recommended further investigation in these areas.GI tract has a direct connection with the immune system and an imbalanced immune response is usually seen in ASD children.Maternal infection or autoimmune diseases have been suspected.Activation of the immune system during early development may have deleterious effect on various organs including the nervous system.In this review we revisited briefly the GI and immune system abnormalities and neuropeptide imbalance and their role in the pathophysiology of ASD and discussed some future research directions.
文摘BACKGROUND Children diagnosed with autism spectrum disorder(ASD)may have great difficulties when their routines change,and this may affect the psychological wellbeing of their parents.For this reason,it is important to examine studies that address the mental health of parents in order to adapt to the coronavirus disease 2019(COVID-19)pandemic.AIM To determine the mental health status of parents with children diagnosed with ASD in the COVID-19 pandemic.METHODS The study,which is a systematic review,was conducted between December 15,2020 and December 30,2020 by scanning articles in English.The Scopus,Science Direct,PubMed,Cochrane,Web of Science,and Google Scholar databases were used for scanning.The keywords COVID-19 AND(“autism”OR“autistic”OR“autism spectrum disorder”)AND parent AND(“mental health”OR“anxiety”OR“stress”)were used in the search process.The inclusion criteria in the study were findings regarding the mental health of parents with children diagnosed with ASD in the COVID-19 pandemic,addressing their anxiety and stress situations,being a research article,and accessing the full text of the article.RESULTS In the study,a total of 6389 articles were reached,and the full texts of 173 articles were evaluated for eligibility.After the articles excluded by the full-text search were eliminated,12 studies involving 7105 parents were included in the analysis.The findings obtained from the articles containing data on mental health in the COVID-19 pandemic of parents with children with autism spectrum disorder were discussed in three groups.These were findings on the experiences of parents with children with ASD in the COVID-19 pandemic regarding the areas where parents with children with ASD need support in the COVID-19 pandemic and methods of coping with the COVID-19 pandemic for parents with children with ASD.In the systematic review,it was determined that the anxiety and stress of the parents increased,they needed more support compared to the pre-pandemic period,and they had difficulty coping.CONCLUSION In this systematic review,it was concluded that the COVID-19 pandemic negatively affected the mental health of the parents of children with ASD.
基金supported by translational grant from the HERA Foundation(to AAE).
文摘Autism spectrum disorder is classified as a spectrum of neurodevelopmental disorders with an unknown definitive etiology.Individuals with autism spectrum disorder show deficits in a variety of areas including cognition,memory,attention,emotion recognition,and social skills.With no definitive treatment or cure,the main interventions for individuals with autism spectrum disorder are based on behavioral modulations.Recently,noninvasive brain modulation techniques including repetitive transcranial magnetic stimulation,intermittent theta burst stimulation,continuous theta burst stimulation,and transcranial direct current stimulation have been studied for their therapeutic properties of modifying neuroplasticity,particularly in individuals with autism spectrum disorder.Preliminary evidence from small cohort studies,pilot studies,and clinical trials suggests that the various noninvasive brain stimulation techniques have therapeutic benefits for treating both behavioral and cognitive manifestations of autism spectrum disorder.However,little data is available for quantifying the clinical significance of these findings as well as the long-term outcomes of individuals with autism spectrum disorder who underwent transcranial stimulation.The objective of this review is to highlight the most recent advancements in the application of noninvasive brain modulation technology in individuals with autism spectrum disorder.
基金supported by Start-up Research Grant of Shenzhen University(20200807163056003)Start-Up Research Grant(PeacockPlan:20191105534C).
文摘Background:The Canadian 24-hour movement behavior(24-HMB)guidelines suggest that a limited amount of screen time use,an adequate level of physical activity(PA),and sufficient sleep duration are beneficial for ensuring and optimizing the health and quality of life(QoL)of children and adolescents.However,this topic has yet to be examined for children and adolescents with autism spectrum disorder(ASD)specifically.The aim of this cross-sectional observational study was to examine the associations between meeting 24-HMB guidelines and several QoLrelated indicators among a national sample of American children and adolescents with ASD.Methods:Data were taken from the 2020 U.S.National Survey of Children’s Health dataset.Participants(n=956)aged 617 years and currently diagnosed with ASD were included.The exposure of interest was adherence to the 24-HMB guidelines.Outcomes were QoL indicators,including learning interest/curiosity,repeating grades,adaptive ability,victimization by bullying,and behavioral problems.Categorical variables were described with unweighted sample counts and weighted percentages.Age,sex,race,preterm birth status,medication,behavioral treatment,household poverty level,and the educational level of the primary caregivers were included as covariates.Odds ratio(OR)and 95%confidence interval(95%CI)were used to present the strength of association between adherence to 24-HMB guidelines and QoL-related indicators.Results:Overall,452 participants(45.34%)met 1 of the 3 recommendations,216(22.65%)met 2 recommendations,whereas only 39 participants(5.04%)met all 3 recommendations.Compared with meeting none of the recommendations,meeting both sleep duration and PA recommendations(OR=3.92,95%CI:1.639.48,p<0.001)or all 3 recommendations(OR=2.11,95%CI:1.034.35,p=0.04)was associated with higher odds of showing learning interest/curiosity.Meeting both screen time and PA recommendations(OR=0.15,95%CI:0.040.61,p<0.05)or both sleep duration and PA recommendations(OR=0.24,95%CI:0.070.87,p<0.05)was associated with lower odds of repeating any grades.With respect to adaptive ability,participants who met only the PA recommendation of the 24-HMB were less likely to have difficulties dressing or bathing(OR=0.11,95%CI:0.020.66,p<0.05)than those who did not.For participants who met all 3 recommendations(OR=0.38,95%CI:0.150.99,p=0.05),the odds of being victimized by bullying was lower.Participants who adhered to both sleep duration and PA recommendations were less likely to present with severe behavioral problems(OR=0.17,95%CI:0.040.71,p<0.05)than those who did not meet those guidelines.Conclusion:Significant associations were found between adhering to 24-HMB guidelines and selected QoL indicators.These findings highlight the importance of maintaining a healthy lifestyle as a key factor in promoting and preserving the QoL of children with ASD.
文摘Objective:The therapeutic approach of traditional chinese Medicine(TCM)in autism spectrum disorder(ASD)is a functional one.To study the efficacy,safety and functional brain change from the use of tongue acupuncture(TAC)on ASD children.Methods:21 autistic boys(3e16 years old)were randomly assigned to TAC group(TAC:n Z 12;receiving daily TAC for 8 weeks)or control(C:n Z 9;no acupuncture).Primary outcome measures included Autism Treatment Evaluation Checklist(ATEC),Reynell Language Developmental Scale,Symbolic Play Test(SPT),Functional Independence Measure for Children(WeeFIM),Clinical Global Impression(CGI)Scale and Cerebral FDG Metabolism by PET.Results:There were significant improvement in speech domain of ATEC(p Z 0.030),Self-care domain of WeeFIM(p Z 0.021),cognition domain of WeeFIM(p Z 0.001)and Total score domain of WeeFIM(p Z 0.001)in TAC group compared to the C group.There were significant difference in positive clinical response between C and TAC group in language(p Z 0.0211),functional(pZ0.0011),parental Impression criteria(pZ0.0003)and overall cerebral glucose metabolism(p Z 0.0451)using ROC criteria.No significant association of PET Glucose Metabolism with Clinical response was found.None of the children developed any side-effects.Conclusion:A short course of TAC can improve specific functions in children with autism spectrum disorder,especially speech and cognition function.No statistical significant association of PET Glucose Metabolism with Clinical response.Larger scale with more sample size trial should be done for further investigation.
基金Our sincere gratitude goes to the parents of children diagnosedwith ASD.
文摘Objective:This study aimed to explore the perceptions of parents of children with autism spectrum disorder(ASD)and their coping strategies.Methods:The data of the study was collected using face-to-face semi-structured interviews.The participants were purposefully selected from the three schools in Mpumalanga Province because they had children diagnosed with ASD and data was analyzed using thematic content analysis.In this study,primary caregivers were selected.In the end,12 women were interviewed,and the data saturation was reached.Ethical considerations and measures to ensure trustworthiness were carried out throughout the study.Results:The findings revealed two themes:caregivers’understanding and misconceptions of ASD and coping mechanisms used in dealing challenges of caring for a child with ASD;and five subthemes:lack of knowledge,cultural beliefs,prayer,strong support system,and acceptance.Conclusion:Based on the findings,more awareness campaigns should be done on ASD to increase parents’understanding of the condition.Understanding the cultural beliefs of parents regarding ASD may assist health care professionals in developing care practices that are accepted in their culture,and may enhance parents’coping skills.
基金supported by grants from the Fundamental Research Funds for the Central Universities(HUST No.2015TS096)Hubei Province Health and Family Planning Scientific Research Project(No.WJ2015MB019)a funding program of Science and Technology Projects of Shenzhen(No.JCYJ20150403142731429)
文摘Autism spectrum disorder(ASD) is a neurodevelopmental disorder characterized by high heritability. Recently, autism, the most profound form of ASD, has been increasingly attributed to synaptic abnormalities. Postsynaptic density 95(PSD95), encoding PSD protein-95, was found essential for synaptic formation, maturation and plasticity at a PSD of excitatory synapse. It is possibly a crucial candidate gene for the pathogenesis of ASD. To identify the relationship between the rs13331 of PSD95 gene and ASD, we performed a case-control study in 212 patients and 636 controls in a Chinese population by using a polymerase chain reaction-restriction fragment length polymerase(PCR-RFLP) assay. The results showed that in genetic analysis of the heterozygous model, an association between the T allele of the rs13331 and ASD was found in the dominant model(OR=1.709, 95% CI 1.227–2.382, P=0.002) and the additive model(OR=1.409, 95% CI=1.104–1.800, P=0.006). Our data indicate that the genetic mutation C〉T at the rs13331 in the PSD95 gene is strikingly associated with an increased risk of ASD.
基金Authors would like to thank for the support of Taif University Researchers Supporting Project Number(TURSP−2020/10),Taif University,Taif,Saudi Arabia.
文摘Autism Spectrum Disorder (ASD) is a developmental disorderwhose symptoms become noticeable in early years of the age though it canbe present in any age group. ASD is a mental disorder which affects the communicational, social and non-verbal behaviors. It cannot be cured completelybut can be reduced if detected early. An early diagnosis is hampered by thevariation and severity of ASD symptoms as well as having symptoms commonly seen in other mental disorders as well. Nowadays, with the emergenceof deep learning approaches in various fields, medical experts can be assistedin early diagnosis of ASD. It is very difficult for a practitioner to identifyand concentrate on the major feature’s leading to the accurate prediction ofthe ASD and this arises the need for having an automated approach. Also,presence of different symptoms of ASD traits amongst toddlers directs tothe creation of a large feature dataset. In this study, we propose a hybridapproach comprising of both, deep learning and Explainable Artificial Intelligence (XAI) to find the most contributing features for the early and preciseprediction of ASD. The proposed framework gives more accurate predictionalong with the recommendations of predicted results which will be a vital aidclinically for better and early prediction of ASD traits amongst toddlers.
文摘A neurological abnormality called autism spectrum disorder(ASD)affects how a person perceives and interacts with others,leading to social interaction and communication issues.Limited and recurring behavioural patterns are another feature of the illness.Multiple mutations throughout development are the source of the neurodevelopmental disorder autism.However,a well-established model and perfect treatment for this spectrum disease has not been discovered.The rising era of the clustered regularly interspaced palindromic repeats(CRISPR)-associated protein 9(Cas9)system can streamline the complexity underlying the pathogenesis of ASD.The CRISPR-Cas9 system is a powerful genetic engineering tool used to edit the genome at the targeted site in a precise manner.The major hurdle in studying ASD is the lack of appropriate animal models presenting the complex symptoms of ASD.Therefore,CRISPR-Cas9 is being used worldwide to mimic the ASD-like pathology in various systems like in vitro cell lines,in vitro 3D organoid models and in vivo animal models.Apart from being used in establishing ASD models,CRISPR-Cas9 can also be used to treat the complexities of ASD.The aim of this review was to summarize and critically analyse the CRISPRCas9-mediated discoveries in the field of ASD.
文摘The purpose of this study was to compare the effects of sedentary video gaming (SVG), active video gaming (AVG), and brisk walking (WLK) on inhibition and reaction time using the Flanker task in boys with and without autism spectrum disorder (ASD). We had 9 participants with ASD and 10 age-matched participants without ASD perform 20-minute bouts of each activity, and then had them take the Flanker test. Dependent measures were reaction time (RT) and accuracy (ACC). A Chi-Square analysis revealed that the ASD and TD groups significantly differed in the percent of participants who improved in both of these measures. Next, we looked at each of the conditions exclusively within the ASD group and compared congruent and incongruent trials. In the AVG condition, participants improved a significantly higher percentage on ACC. In the SVG condition, participants improved a significantly higher percentage on incongruent in RT;for ACC, a higher percentage improved on the congruent trials. In WLK, participants improved a significantly higher percentage in RT in the congruent condition.