Autism spectrum disorders are a group of neurodevelopmental disorders involving more than 1100 genes,including Ctnnd2 as a candidate gene.Ctnnd2knockout mice,serving as an animal model of autis m,have been demonstrate...Autism spectrum disorders are a group of neurodevelopmental disorders involving more than 1100 genes,including Ctnnd2 as a candidate gene.Ctnnd2knockout mice,serving as an animal model of autis m,have been demonstrated to exhibit decreased density of dendritic spines.The role of melatonin,as a neuro hormone capable of effectively alleviating social interaction deficits and regulating the development of dendritic spines,in Ctnnd2 deletion-induced nerve injury remains unclea r.In the present study,we discove red that the deletion of exon 2 of the Ctnnd2 gene was linked to social interaction deficits,spine loss,impaired inhibitory neurons,and suppressed phosphatidylinositol-3-kinase(PI3K)/protein kinase B(Akt) signal pathway in the prefrontal cortex.Our findings demonstrated that the long-term oral administration of melatonin for 28 days effectively alleviated the aforementioned abnormalities in Ctnnd2 gene-knockout mice.Furthermore,the administration of melatonin in the prefro ntal cortex was found to improve synaptic function and activate the PI3K/Akt signal pathway in this region.The pharmacological blockade of the PI3K/Akt signal pathway with a PI3K/Akt inhibitor,wo rtmannin,and melatonin receptor antagonists,luzindole and 4-phenyl-2-propionamidotetralin,prevented the melatonin-induced enhancement of GABAergic synaptic function.These findings suggest that melatonin treatment can ameliorate GABAe rgic synaptic function by activating the PI3K/Akt signal pathway,which may contribute to the improvement of dendritic spine abnormalities in autism spectrum disorders.展开更多
Objective This study aimed to explore the clinical value of Children Neuropsychological and Behavioral Scale-Revision 2016(CNBS-R2016)for Autism Spectrum Disorder(ASD)screening in the presence of developmental surveil...Objective This study aimed to explore the clinical value of Children Neuropsychological and Behavioral Scale-Revision 2016(CNBS-R2016)for Autism Spectrum Disorder(ASD)screening in the presence of developmental surveillance.Methods All participants were evaluated by the CNBS-R2016 and Gesell Developmental Schedules(GDS).Spearman’s correlation coefficients and Kappa values were obtained.Taking GDS as a reference assessment,the performance of the CNBS-R2016 for detecting the developmental delays of children with ASD was analyzed with receiver operating characteristic(ROC)curves.The efficacy of the CNBS-R2016 to screen for ASD was explored by comparing Communication Warning Behavior with Autism Diagnostic Observation Schedule,Second Edition(ADOS-2).Results In total,150 children aged 12–42 months with ASD were enrolled.The developmental quotients of the CNBS-R2016 were correlated with those of the GDS(r=0.62–0.94).The CNBS-R2016 and GDS had good diagnostic agreement for developmental delays(Kappa=0.73–0.89),except for Fine Motor.There was a significant difference between the proportions of Fine Motor,delays detected by the CNBS-R2016 and GDS(86.0%vs.77.3%).With GDS as a standard,the areas under the ROC curves of the CNBS-R2016 were above 0.95 for all the domains except Fine Motor,which was 0.70.In addition,the positive rate of ASD was 100.0%and 93.5%when the cut-off points of 7 and 12 in the Communication Warning Behavior subscale were used,respectively.Conclusion The CNBS-R2016 performed well in developmental assessment and screening for children with ASD,especially by Communication Warning Behaviors subscale.Therefore,the CNBS-R2016 is worthy of clinical application in children with ASD in China.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
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
Autism spectrum disorder(ASD)is often diagnosed long after symptoms have become noticeable.This delay can make it difficult to provide early intervention,which can impact long-term outcomes.The concept of"pre-aut...Autism spectrum disorder(ASD)is often diagnosed long after symptoms have become noticeable.This delay can make it difficult to provide early intervention,which can impact long-term outcomes.The concept of"pre-autism"highlights the phase before a formal diagnosis of ASD,providing an opportunity for earlier identification and intervention,which could be a turning point in ASD management.In a previous article,we explored different ways of diagnosing pre-autism,including historical records,physical markers,laboratory tests,and radiological evidence.This manuscript builds on that foundation by emphasizing the importance of early diagnosis and intervention in ASD.Recent research advancements have clarified that ASD presentations can be complex,and individualized support strategies are necessary.The significance of pre-autism lies in its potential to alter the trajectory of ASD through early detection and intervention despite challenges such as limited awareness and variability in symptom presentation.Biomarkers and diagnostic tools have shown promise as avenues for early detection,but it is essential to exercise caution and not rely too heavily on yet-tobe-established markers.Addressing these challenges requires a collaborative effort to increase awareness,improve access to diagnostic tools,and foster inclusive environments.Ultimately,this manuscript calls for ongoing research,advocacy,and resource allocation to enhance early detection and intervention efforts,ensuring optimal outcomes for individuals on the autism spectrum.展开更多
Research motivation:Through the 12 weeks dance therapy intervention for children with autism,the purpose is to explore the intervention model of dance therapy for children with autism and the changes in motor ability,...Research motivation:Through the 12 weeks dance therapy intervention for children with autism,the purpose is to explore the intervention model of dance therapy for children with autism and the changes in motor ability,social ability,and communication ability of children with autism after dance therapy intervention.The results of the research are expected to expand the intervention mode of dance therapy in my country and provide practical reference for rehabilitation intervention of children with autism.Research methods:24 autistic boys aged 6 to 12 with mild to moderate symptoms were recruited and screened through the Internet as the subjects of this study.We randomly divided them into experimental group(N=12)and control group(N=12).All children with autism have an autism diagnosis certificate issued by Children’s Hospital or a tertiary hospital,excluding other mental diseases(such as epilepsy,major physical disability,mental illness,no history of drugs and other interventions,etc.).We used the paired sample t-test to compare the score difference between the dance treatment group and the control group before and after the two groups,and used the observation method to record the basic communication behavior and the number of active communication behaviors in the experimental group during the intervention process.All data analysis is used in SPSS 20.0.Research results:After 12 weeks of dance therapy intervention,there were statistically significant differences in the gross movement,balance,and coordination abilities of the children in the experimental group compared with those before the intervention(p<0.01).There was no significant difference between the children in the control group(p>0.05).After 12 weeks of dance therapy intervention,there were statistically significant differences in the scores of the social response scale for children with autism in the experimental group(p<0.05).There was no significant change in the scores of each item of the SRS scale before and after intervention in the control group and the dance treatment group(p>0.05).展开更多
BACKGROUND Autism spectrum disorder(ASD)is a developmental disorder characterized by social deficits and repetitive behavior.Gastrointestinal(GI)problems,such as constipation,diarrhea,and inflammatory bowel disease,co...BACKGROUND Autism spectrum disorder(ASD)is a developmental disorder characterized by social deficits and repetitive behavior.Gastrointestinal(GI)problems,such as constipation,diarrhea,and inflammatory bowel disease,commonly occur in patients with ASD.Previously,GI problems of ASD patients were attributed to intestinal inflammation and vertical mother-to-infant microbiome transmission.AIM To explore whether GI problems in ASD are related to maternal intestinal inflam-mation and gut microbiota abnormalities.METHODS An ASD rat model was developed using valproic acid(VPA).Enzyme-linked immunosorbent assay and fecal 16S rRNA sequencing were used to test GI changes.RESULTS VPA exposure during pregnancy led to pathological maternal intestinal changes,resulting in alterations in maternal gut microbiota.Additionally,the levels of inflammatory factors also increased.Moreover,prenatal exposure to VPA resulted in impaired duodenal motility in the offspring as well as increased levels of infla-mmatory factors.CONCLUSION GI problems in ASD may be associated with maternal intestinal inflammation and microbiota abnormality.Future research is required to find more evidence on the etiology and treatment of GI problems in ASD.展开更多
BACKGROUND Unhealthy maternal diet leads to heavy metal exposures from the consumption of ultra-processed foods that may impact gene behavior across generations,creating conditions for the neurodevelopmental disorders...BACKGROUND Unhealthy maternal diet leads to heavy metal exposures from the consumption of ultra-processed foods that may impact gene behavior across generations,creating conditions for the neurodevelopmental disorders known as autism and attention deficit/hyperactivity disorder(ADHD).Children with these disorders have difficulty metabolizing and excreting heavy metals from their bloodstream,and the severity of their symptoms correlates with the heavy metal levels measured in their blood.Psychiatrists may play a key role in helping parents reduce their ultra-processed food and dietary heavy metal intake by providing access to effective nutritional epigenetics education.AIM To test the efficacy of nutritional epigenetics instruction in reducing parental ultra-processed food intake.METHODS The study utilized a semi-randomized test and control group pretest-posttest pilot study design with participants recruited from parents having a learning-disabled child with autism or ADHD.Twenty-two parents who met the inclusion criteria were randomly selected to serve in the test(n=11)or control(n=11)group.The test group participated in the six-week online nutritional epigenetics tutorial,while the control group did not.The efficacy of the nutritional epigenetics instruction was determined by measuring changes in parent diet and attitude using data derived from an online diet survey administered to the participants during the pre and post intervention periods.Diet intake scores were derived for both ultra-processed and whole/organic foods.Paired sample t-tests were conducted to determine any differences in mean diet scores within each group.RESULTS There was a significant difference in the diet scores of the test group between the pre-and post-intervention periods.The parents in the test group significantly reduced their intake of ultra-processed foods with a preintervention diet score of 70(mean=5.385,SD=2.534)and a post-intervention diet score of 113(mean=8.692,SD=1.750)and the paired t-test analysis showing a significance of P<0.001.The test group also significantly increased their consumption of whole and/or organic foods with a pre-intervention diet score of 100(mean=5.882,SD=2.472)and post-intervention diet score of 121(mean=7.118,SD=2.390)and the paired t-test analysis showing a significance of P<0.05.CONCLUSION Here we show nutritional epigenetics education can be used to reduce ultra-processed food intake and improve attitude among parents having learning-disabled children with autism or ADHD.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
In 2013, the percentage of children ranging from 5 to 17 years who reported being diagnosed with autism surged to 1.2% from 0.1% in 1997 [1]. Alongside this increase in the incidence of autism in children, there were ...In 2013, the percentage of children ranging from 5 to 17 years who reported being diagnosed with autism surged to 1.2% from 0.1% in 1997 [1]. Alongside this increase in the incidence of autism in children, there were findings of a 21% increase in children who displayed behavioral and conduct problems from 2019 to 2020 [2]. Early detection of neuropsychiatric and neurodevelopmental disorders in children is critical for timely intervention and improved long-term outcomes. With early intervention, there is better aptitude to support healthy development and give proper treatment to attain a better quality of life. This paper explores studies aimed at enhancing the early detection of these disorders through the use of biomarkers with the aim of creating a bridge between the worlds of research and clinical practice. The disorders in this paper specifically discussed are Major Depressive Disorder, Bipolar Disorder, and Autism Spectrum Disorder. With this bridge, we can foster collaborations and encourage further advancement in the field of early detection and intervention.展开更多
Objective: The demand for pediatric developmental evaluations has far exceeded the workforce available to perform them, which creates long significant wait times for services. A year-long clinician training using the ...Objective: The demand for pediatric developmental evaluations has far exceeded the workforce available to perform them, which creates long significant wait times for services. A year-long clinician training using the Extension for Community Healthcare Outcomes (ECHO<sup>®</sup>) model with monthly meetings was conducted and evaluated for its impact on primary care clinicians’ self-reported self-efficacy, ability to administer autism screening and counsel families, professional fulfillment, and burnout. Methods: Participants represented six community health centers and a hospital-based practice. Data collection was informed by participant feedback and the Normalization Process Theory via online surveys and focus groups/interviews. Twelve virtual monthly trainings were delivered between November 2020 and October 2021. Results: 30 clinicians participated in data collection. Matched analyses (n = 9) indicated statistically significant increase in self-rated ability to counsel families about autism (Pre-test Mean = 3.00, Post-test Mean = 3.89, p = 0.0313), manage autistic patients’ care (Pre-test Mean = 2.56, Post-test Mean = 4.11, p = 0.0078), empathy toward patients (Pre-test Mean = 2.11, Post-test Mean = 1.22, p = 0.0156) and colleagues (Pre-test Mean = 2.33, Post-test Mean = 1.22, respectively, p = 0.0391). Unmatched analysis revealed increases in participants confident about educating patients about autism (70.59%, post-test n = 12 vs. 3.33%, pre-test n = 1, p = 0.0019). Focus groups found increased confidence in using the term “autism”. Conclusion: Participants reported increases in ability and confidence to care for autistic patients, as well as empathy toward patients and colleagues. Future research should explore long-term outcomes in participants’ knowledge retention, confidence in practice, and improvements to autism evaluations and care.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
BACKGROUND Autism spectrum disorder(ASD)is a neurodevelopmental condition characterized by deficits in social communication and repetitive behaviors.Metabolomic profiling has emerged as a valuable tool for understandi...BACKGROUND Autism spectrum disorder(ASD)is a neurodevelopmental condition characterized by deficits in social communication and repetitive behaviors.Metabolomic profiling has emerged as a valuable tool for understanding the underlying metabolic dysregulations associated with ASD.AIM To comprehensively explore metabolomic changes in children with ASD,integrating findings from various research articles,reviews,systematic reviews,meta-analyses,case reports,editorials,and a book chapter.METHODS A systematic search was conducted in electronic databases,including PubMed,PubMed Central,Cochrane Library,Embase,Web of Science,CINAHL,Scopus,LISA,and NLM catalog up until January 2024.Inclusion criteria encompassed research articles(83),review articles(145),meta-analyses(6),systematic reviews(6),case reports(2),editorials(2),and a book chapter(1)related to metabolomic changes in children with ASD.Exclusion criteria were applied to ensure the relevance and quality of included studies.RESULTS The systematic review identified specific metabolites and metabolic pathways showing consistent differences in children with ASD compared to typically developing individuals.These metabolic biomarkers may serve as objective measures to support clinical assessments,improve diagnostic accuracy,and inform personalized treatment approaches.Metabolomic profiling also offers insights into the metabolic alterations associated with comorbid conditions commonly observed in individuals with ASD.CONCLUSION Integration of metabolomic changes in children with ASD holds promise for enhancing diagnostic accuracy,guiding personalized treatment approaches,monitoring treatment response,and improving outcomes.Further research is needed to validate findings,establish standardized protocols,and overcome technical challenges in metabolomic analysis.By advancing our understanding of metabolic dysregulations in ASD,clinicians can improve the lives of affected individuals and their families.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
BACKGROUND Autism spectrum disorder(ASD)is a complex neurodevelopmental condition characterized by heterogeneous symptoms and genetic underpinnings.Recent advancements in genetic and epigenetic research have provided ...BACKGROUND Autism spectrum disorder(ASD)is a complex neurodevelopmental condition characterized by heterogeneous symptoms and genetic underpinnings.Recent advancements in genetic and epigenetic research have provided insights into the intricate mechanisms contributing to ASD,influencing both diagnosis and therapeutic strategies.AIM To explore the genetic architecture of ASD,elucidate mechanistic insights into genetic mutations,and examine gene-environment interactions.METHODS A comprehensive systematic review was conducted,integrating findings from studies on genetic variations,epigenetic mechanisms(such as DNA methylation and histone modifications),and emerging technologies[including Clustered Regularly Interspaced Short Palindromic Repeats(CRISPR)-Cas9 and single-cell RNA sequencing].Relevant articles were identified through systematic searches of databases such as PubMed and Google Scholar.RESULTS Genetic studies have identified numerous risk genes and mutations associated with ASD,yet many cases remain unexplained by known factors,suggesting undiscovered genetic components.Mechanistic insights into how these genetic mutations impact neural development and brain connectivity are still evolving.Epigenetic modifications,particularly DNA methylation and non-coding RNAs,also play significant roles in ASD pathogenesis.Emerging technologies like CRISPR-Cas9 and advanced bioinformatics are advancing our understanding by enabling precise genetic editing and analysis of complex genomic data.CONCLUSION Continued research into the genetic and epigenetic underpinnings of ASD is crucial for developing personalized and effective treatments.Collaborative efforts integrating multidisciplinary expertise and international collaborations are essential to address the complexity of ASD and translate genetic discoveries into clinical practice.Addressing unresolved questions and ethical considerations surrounding genetic research will pave the way for improved diagnostic tools and targeted therapies,ultimately enhancing outcomes for individuals affected by ASD.展开更多
Faced with autism, motherhood and parenthood are turned upside down in many ways. Coping with stress and mental health problems, continuing to assume a rewarding parental role and finding suitable care are the trials ...Faced with autism, motherhood and parenthood are turned upside down in many ways. Coping with stress and mental health problems, continuing to assume a rewarding parental role and finding suitable care are the trials and tribulations that mark out the journey of African parents. Faith and belief have been described as providing meaning and coping mechanisms in the frightening ordeal of disability. An encounter with a young girl and her parents provided an opportunity to analyse the mother’s experience and the impact of beliefs and discourses on her commitment to care. Based on this clinical story, we discuss the place of other-actors (parents and carers) and the Other-God in relation to the psychopathological dynamics of the mother.展开更多
Objective:This study aims to investigate the impact of early intervention on neuropsychological development in children with autism and attention deficit hyperactivity disorder(ADHD),providing effective intervention s...Objective:This study aims to investigate the impact of early intervention on neuropsychological development in children with autism and attention deficit hyperactivity disorder(ADHD),providing effective intervention strategies for clinical practice.Methods:A total of 130 children with autism and ADHD who visited the hospital between June 2023 and June 2024 were selected as study subjects and randomly divided into an intervention group and a control group,with 65 children in each group.The intervention group received a one-year early comprehensive intervention,including behavioral therapy,cognitive training,and family guidance,while the control group only received routine medical care.The neuropsychological development assessment scale was used to evaluate both groups before and after the intervention to compare changes in their neuropsychological development levels.Results:Children in the intervention group showed significant improvements in cognitive function,social skills,language ability,and attention concentration,with an average improvement score of 23.5 points.Children in the control group did not show significant improvements in these areas,with an average improvement score of only 5.8 points.The difference between the two groups was statistically significant(P<0.05).Conclusion:Early comprehensive intervention has a significant promoting effect on the neuropsychological development of children with autism and ADHD.Targeted behavioral therapy,cognitive training,and family guidance can effectively enhance children’s cognitive,social,language,and attention abilities,laying a solid foundation for their future overall development.Therefore,it is recommended to actively promote and apply early intervention strategies in clinical practice.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
Autism,also known as an autism spectrum disorder,is a complex neurodevelopmental disorder usually diagnosed in the first three years of a child's life.A range of symptoms characterizes it and can be diagnosed at a...Autism,also known as an autism spectrum disorder,is a complex neurodevelopmental disorder usually diagnosed in the first three years of a child's life.A range of symptoms characterizes it and can be diagnosed at any age,including adolescence and adulthood.However,early diagnosis is crucial for effective management,prognosis,and care.Unfortunately,there are no established fetal,prenatal,or newborn screening programs for autism,making early detection difficult.This review aims to shed light on the early detection of autism prenatally,natally,and early in life,during a stage we call as“pre-autism”when typical symptoms are not yet apparent.Some fetal,neonatal,and infant biomarkers may predict an increased risk of autism in the coming baby.By developing a biomarker array,we can create an objective diagnostic tool to diagnose and rank the severity of autism for each patient.These biomarkers could be genetic,immunological,hormonal,metabolic,amino acids,acute phase reactants,neonatal brainstem function biophysical activity,behavioral profile,body measurements,or radiological markers.However,every biomarker has its accuracy and limitations.Several factors can make early detection of autism a real challenge.To improve early detection,we need to overcome various challenges,such as raising community awareness of early signs of autism,improving access to diagnostic tools,reducing the stigma attached to the diagnosis of autism,and addressing various culturally sensitive concepts related to the disorder.展开更多
基金supported by the Chongqing Science and Technology CommitteeNatural Science Foundation of Chongqing,No.cstc2021jcyj-msxmX0065 (to YL)。
文摘Autism spectrum disorders are a group of neurodevelopmental disorders involving more than 1100 genes,including Ctnnd2 as a candidate gene.Ctnnd2knockout mice,serving as an animal model of autis m,have been demonstrated to exhibit decreased density of dendritic spines.The role of melatonin,as a neuro hormone capable of effectively alleviating social interaction deficits and regulating the development of dendritic spines,in Ctnnd2 deletion-induced nerve injury remains unclea r.In the present study,we discove red that the deletion of exon 2 of the Ctnnd2 gene was linked to social interaction deficits,spine loss,impaired inhibitory neurons,and suppressed phosphatidylinositol-3-kinase(PI3K)/protein kinase B(Akt) signal pathway in the prefrontal cortex.Our findings demonstrated that the long-term oral administration of melatonin for 28 days effectively alleviated the aforementioned abnormalities in Ctnnd2 gene-knockout mice.Furthermore,the administration of melatonin in the prefro ntal cortex was found to improve synaptic function and activate the PI3K/Akt signal pathway in this region.The pharmacological blockade of the PI3K/Akt signal pathway with a PI3K/Akt inhibitor,wo rtmannin,and melatonin receptor antagonists,luzindole and 4-phenyl-2-propionamidotetralin,prevented the melatonin-induced enhancement of GABAergic synaptic function.These findings suggest that melatonin treatment can ameliorate GABAe rgic synaptic function by activating the PI3K/Akt signal pathway,which may contribute to the improvement of dendritic spine abnormalities in autism spectrum disorders.
基金This study was supported by Emergency Technology Research Project of Huazhong University of Science and Technology(No.2020kfyXGYJ020).
文摘Objective This study aimed to explore the clinical value of Children Neuropsychological and Behavioral Scale-Revision 2016(CNBS-R2016)for Autism Spectrum Disorder(ASD)screening in the presence of developmental surveillance.Methods All participants were evaluated by the CNBS-R2016 and Gesell Developmental Schedules(GDS).Spearman’s correlation coefficients and Kappa values were obtained.Taking GDS as a reference assessment,the performance of the CNBS-R2016 for detecting the developmental delays of children with ASD was analyzed with receiver operating characteristic(ROC)curves.The efficacy of the CNBS-R2016 to screen for ASD was explored by comparing Communication Warning Behavior with Autism Diagnostic Observation Schedule,Second Edition(ADOS-2).Results In total,150 children aged 12–42 months with ASD were enrolled.The developmental quotients of the CNBS-R2016 were correlated with those of the GDS(r=0.62–0.94).The CNBS-R2016 and GDS had good diagnostic agreement for developmental delays(Kappa=0.73–0.89),except for Fine Motor.There was a significant difference between the proportions of Fine Motor,delays detected by the CNBS-R2016 and GDS(86.0%vs.77.3%).With GDS as a standard,the areas under the ROC curves of the CNBS-R2016 were above 0.95 for all the domains except Fine Motor,which was 0.70.In addition,the positive rate of ASD was 100.0%and 93.5%when the cut-off points of 7 and 12 in the Communication Warning Behavior subscale were used,respectively.Conclusion The CNBS-R2016 performed well in developmental assessment and screening for children with ASD,especially by Communication Warning Behaviors subscale.Therefore,the CNBS-R2016 is worthy of clinical application in children with ASD in China.
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.
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.
文摘Autism spectrum disorder(ASD)is often diagnosed long after symptoms have become noticeable.This delay can make it difficult to provide early intervention,which can impact long-term outcomes.The concept of"pre-autism"highlights the phase before a formal diagnosis of ASD,providing an opportunity for earlier identification and intervention,which could be a turning point in ASD management.In a previous article,we explored different ways of diagnosing pre-autism,including historical records,physical markers,laboratory tests,and radiological evidence.This manuscript builds on that foundation by emphasizing the importance of early diagnosis and intervention in ASD.Recent research advancements have clarified that ASD presentations can be complex,and individualized support strategies are necessary.The significance of pre-autism lies in its potential to alter the trajectory of ASD through early detection and intervention despite challenges such as limited awareness and variability in symptom presentation.Biomarkers and diagnostic tools have shown promise as avenues for early detection,but it is essential to exercise caution and not rely too heavily on yet-tobe-established markers.Addressing these challenges requires a collaborative effort to increase awareness,improve access to diagnostic tools,and foster inclusive environments.Ultimately,this manuscript calls for ongoing research,advocacy,and resource allocation to enhance early detection and intervention efforts,ensuring optimal outcomes for individuals on the autism spectrum.
文摘Research motivation:Through the 12 weeks dance therapy intervention for children with autism,the purpose is to explore the intervention model of dance therapy for children with autism and the changes in motor ability,social ability,and communication ability of children with autism after dance therapy intervention.The results of the research are expected to expand the intervention mode of dance therapy in my country and provide practical reference for rehabilitation intervention of children with autism.Research methods:24 autistic boys aged 6 to 12 with mild to moderate symptoms were recruited and screened through the Internet as the subjects of this study.We randomly divided them into experimental group(N=12)and control group(N=12).All children with autism have an autism diagnosis certificate issued by Children’s Hospital or a tertiary hospital,excluding other mental diseases(such as epilepsy,major physical disability,mental illness,no history of drugs and other interventions,etc.).We used the paired sample t-test to compare the score difference between the dance treatment group and the control group before and after the two groups,and used the observation method to record the basic communication behavior and the number of active communication behaviors in the experimental group during the intervention process.All data analysis is used in SPSS 20.0.Research results:After 12 weeks of dance therapy intervention,there were statistically significant differences in the gross movement,balance,and coordination abilities of the children in the experimental group compared with those before the intervention(p<0.01).There was no significant difference between the children in the control group(p>0.05).After 12 weeks of dance therapy intervention,there were statistically significant differences in the scores of the social response scale for children with autism in the experimental group(p<0.05).There was no significant change in the scores of each item of the SRS scale before and after intervention in the control group and the dance treatment group(p>0.05).
基金Supported by the National Natural Science Foundation of China,No.82305035.
文摘BACKGROUND Autism spectrum disorder(ASD)is a developmental disorder characterized by social deficits and repetitive behavior.Gastrointestinal(GI)problems,such as constipation,diarrhea,and inflammatory bowel disease,commonly occur in patients with ASD.Previously,GI problems of ASD patients were attributed to intestinal inflammation and vertical mother-to-infant microbiome transmission.AIM To explore whether GI problems in ASD are related to maternal intestinal inflam-mation and gut microbiota abnormalities.METHODS An ASD rat model was developed using valproic acid(VPA).Enzyme-linked immunosorbent assay and fecal 16S rRNA sequencing were used to test GI changes.RESULTS VPA exposure during pregnancy led to pathological maternal intestinal changes,resulting in alterations in maternal gut microbiota.Additionally,the levels of inflammatory factors also increased.Moreover,prenatal exposure to VPA resulted in impaired duodenal motility in the offspring as well as increased levels of infla-mmatory factors.CONCLUSION GI problems in ASD may be associated with maternal intestinal inflammation and microbiota abnormality.Future research is required to find more evidence on the etiology and treatment of GI problems in ASD.
文摘BACKGROUND Unhealthy maternal diet leads to heavy metal exposures from the consumption of ultra-processed foods that may impact gene behavior across generations,creating conditions for the neurodevelopmental disorders known as autism and attention deficit/hyperactivity disorder(ADHD).Children with these disorders have difficulty metabolizing and excreting heavy metals from their bloodstream,and the severity of their symptoms correlates with the heavy metal levels measured in their blood.Psychiatrists may play a key role in helping parents reduce their ultra-processed food and dietary heavy metal intake by providing access to effective nutritional epigenetics education.AIM To test the efficacy of nutritional epigenetics instruction in reducing parental ultra-processed food intake.METHODS The study utilized a semi-randomized test and control group pretest-posttest pilot study design with participants recruited from parents having a learning-disabled child with autism or ADHD.Twenty-two parents who met the inclusion criteria were randomly selected to serve in the test(n=11)or control(n=11)group.The test group participated in the six-week online nutritional epigenetics tutorial,while the control group did not.The efficacy of the nutritional epigenetics instruction was determined by measuring changes in parent diet and attitude using data derived from an online diet survey administered to the participants during the pre and post intervention periods.Diet intake scores were derived for both ultra-processed and whole/organic foods.Paired sample t-tests were conducted to determine any differences in mean diet scores within each group.RESULTS There was a significant difference in the diet scores of the test group between the pre-and post-intervention periods.The parents in the test group significantly reduced their intake of ultra-processed foods with a preintervention diet score of 70(mean=5.385,SD=2.534)and a post-intervention diet score of 113(mean=8.692,SD=1.750)and the paired t-test analysis showing a significance of P<0.001.The test group also significantly increased their consumption of whole and/or organic foods with a pre-intervention diet score of 100(mean=5.882,SD=2.472)and post-intervention diet score of 121(mean=7.118,SD=2.390)and the paired t-test analysis showing a significance of P<0.05.CONCLUSION Here we show nutritional epigenetics education can be used to reduce ultra-processed food intake and improve attitude among parents having learning-disabled children with autism or ADHD.
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In 2013, the percentage of children ranging from 5 to 17 years who reported being diagnosed with autism surged to 1.2% from 0.1% in 1997 [1]. Alongside this increase in the incidence of autism in children, there were findings of a 21% increase in children who displayed behavioral and conduct problems from 2019 to 2020 [2]. Early detection of neuropsychiatric and neurodevelopmental disorders in children is critical for timely intervention and improved long-term outcomes. With early intervention, there is better aptitude to support healthy development and give proper treatment to attain a better quality of life. This paper explores studies aimed at enhancing the early detection of these disorders through the use of biomarkers with the aim of creating a bridge between the worlds of research and clinical practice. The disorders in this paper specifically discussed are Major Depressive Disorder, Bipolar Disorder, and Autism Spectrum Disorder. With this bridge, we can foster collaborations and encourage further advancement in the field of early detection and intervention.
文摘Objective: The demand for pediatric developmental evaluations has far exceeded the workforce available to perform them, which creates long significant wait times for services. A year-long clinician training using the Extension for Community Healthcare Outcomes (ECHO<sup>®</sup>) model with monthly meetings was conducted and evaluated for its impact on primary care clinicians’ self-reported self-efficacy, ability to administer autism screening and counsel families, professional fulfillment, and burnout. Methods: Participants represented six community health centers and a hospital-based practice. Data collection was informed by participant feedback and the Normalization Process Theory via online surveys and focus groups/interviews. Twelve virtual monthly trainings were delivered between November 2020 and October 2021. Results: 30 clinicians participated in data collection. Matched analyses (n = 9) indicated statistically significant increase in self-rated ability to counsel families about autism (Pre-test Mean = 3.00, Post-test Mean = 3.89, p = 0.0313), manage autistic patients’ care (Pre-test Mean = 2.56, Post-test Mean = 4.11, p = 0.0078), empathy toward patients (Pre-test Mean = 2.11, Post-test Mean = 1.22, p = 0.0156) and colleagues (Pre-test Mean = 2.33, Post-test Mean = 1.22, respectively, p = 0.0391). Unmatched analysis revealed increases in participants confident about educating patients about autism (70.59%, post-test n = 12 vs. 3.33%, pre-test n = 1, p = 0.0019). Focus groups found increased confidence in using the term “autism”. Conclusion: Participants reported increases in ability and confidence to care for autistic patients, as well as empathy toward patients and colleagues. Future research should explore long-term outcomes in participants’ knowledge retention, confidence in practice, and improvements to autism evaluations and care.
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BACKGROUND Autism spectrum disorder(ASD)is a neurodevelopmental condition characterized by deficits in social communication and repetitive behaviors.Metabolomic profiling has emerged as a valuable tool for understanding the underlying metabolic dysregulations associated with ASD.AIM To comprehensively explore metabolomic changes in children with ASD,integrating findings from various research articles,reviews,systematic reviews,meta-analyses,case reports,editorials,and a book chapter.METHODS A systematic search was conducted in electronic databases,including PubMed,PubMed Central,Cochrane Library,Embase,Web of Science,CINAHL,Scopus,LISA,and NLM catalog up until January 2024.Inclusion criteria encompassed research articles(83),review articles(145),meta-analyses(6),systematic reviews(6),case reports(2),editorials(2),and a book chapter(1)related to metabolomic changes in children with ASD.Exclusion criteria were applied to ensure the relevance and quality of included studies.RESULTS The systematic review identified specific metabolites and metabolic pathways showing consistent differences in children with ASD compared to typically developing individuals.These metabolic biomarkers may serve as objective measures to support clinical assessments,improve diagnostic accuracy,and inform personalized treatment approaches.Metabolomic profiling also offers insights into the metabolic alterations associated with comorbid conditions commonly observed in individuals with ASD.CONCLUSION Integration of metabolomic changes in children with ASD holds promise for enhancing diagnostic accuracy,guiding personalized treatment approaches,monitoring treatment response,and improving outcomes.Further research is needed to validate findings,establish standardized protocols,and overcome technical challenges in metabolomic analysis.By advancing our understanding of metabolic dysregulations in ASD,clinicians can improve the lives of affected individuals and their families.
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.
文摘BACKGROUND Autism spectrum disorder(ASD)is a complex neurodevelopmental condition characterized by heterogeneous symptoms and genetic underpinnings.Recent advancements in genetic and epigenetic research have provided insights into the intricate mechanisms contributing to ASD,influencing both diagnosis and therapeutic strategies.AIM To explore the genetic architecture of ASD,elucidate mechanistic insights into genetic mutations,and examine gene-environment interactions.METHODS A comprehensive systematic review was conducted,integrating findings from studies on genetic variations,epigenetic mechanisms(such as DNA methylation and histone modifications),and emerging technologies[including Clustered Regularly Interspaced Short Palindromic Repeats(CRISPR)-Cas9 and single-cell RNA sequencing].Relevant articles were identified through systematic searches of databases such as PubMed and Google Scholar.RESULTS Genetic studies have identified numerous risk genes and mutations associated with ASD,yet many cases remain unexplained by known factors,suggesting undiscovered genetic components.Mechanistic insights into how these genetic mutations impact neural development and brain connectivity are still evolving.Epigenetic modifications,particularly DNA methylation and non-coding RNAs,also play significant roles in ASD pathogenesis.Emerging technologies like CRISPR-Cas9 and advanced bioinformatics are advancing our understanding by enabling precise genetic editing and analysis of complex genomic data.CONCLUSION Continued research into the genetic and epigenetic underpinnings of ASD is crucial for developing personalized and effective treatments.Collaborative efforts integrating multidisciplinary expertise and international collaborations are essential to address the complexity of ASD and translate genetic discoveries into clinical practice.Addressing unresolved questions and ethical considerations surrounding genetic research will pave the way for improved diagnostic tools and targeted therapies,ultimately enhancing outcomes for individuals affected by ASD.
文摘Faced with autism, motherhood and parenthood are turned upside down in many ways. Coping with stress and mental health problems, continuing to assume a rewarding parental role and finding suitable care are the trials and tribulations that mark out the journey of African parents. Faith and belief have been described as providing meaning and coping mechanisms in the frightening ordeal of disability. An encounter with a young girl and her parents provided an opportunity to analyse the mother’s experience and the impact of beliefs and discourses on her commitment to care. Based on this clinical story, we discuss the place of other-actors (parents and carers) and the Other-God in relation to the psychopathological dynamics of the mother.
文摘Objective:This study aims to investigate the impact of early intervention on neuropsychological development in children with autism and attention deficit hyperactivity disorder(ADHD),providing effective intervention strategies for clinical practice.Methods:A total of 130 children with autism and ADHD who visited the hospital between June 2023 and June 2024 were selected as study subjects and randomly divided into an intervention group and a control group,with 65 children in each group.The intervention group received a one-year early comprehensive intervention,including behavioral therapy,cognitive training,and family guidance,while the control group only received routine medical care.The neuropsychological development assessment scale was used to evaluate both groups before and after the intervention to compare changes in their neuropsychological development levels.Results:Children in the intervention group showed significant improvements in cognitive function,social skills,language ability,and attention concentration,with an average improvement score of 23.5 points.Children in the control group did not show significant improvements in these areas,with an average improvement score of only 5.8 points.The difference between the two groups was statistically significant(P<0.05).Conclusion:Early comprehensive intervention has a significant promoting effect on the neuropsychological development of children with autism and ADHD.Targeted behavioral therapy,cognitive training,and family guidance can effectively enhance children’s cognitive,social,language,and attention abilities,laying a solid foundation for their future overall development.Therefore,it is recommended to actively promote and apply early intervention strategies in clinical practice.
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Autism,also known as an autism spectrum disorder,is a complex neurodevelopmental disorder usually diagnosed in the first three years of a child's life.A range of symptoms characterizes it and can be diagnosed at any age,including adolescence and adulthood.However,early diagnosis is crucial for effective management,prognosis,and care.Unfortunately,there are no established fetal,prenatal,or newborn screening programs for autism,making early detection difficult.This review aims to shed light on the early detection of autism prenatally,natally,and early in life,during a stage we call as“pre-autism”when typical symptoms are not yet apparent.Some fetal,neonatal,and infant biomarkers may predict an increased risk of autism in the coming baby.By developing a biomarker array,we can create an objective diagnostic tool to diagnose and rank the severity of autism for each patient.These biomarkers could be genetic,immunological,hormonal,metabolic,amino acids,acute phase reactants,neonatal brainstem function biophysical activity,behavioral profile,body measurements,or radiological markers.However,every biomarker has its accuracy and limitations.Several factors can make early detection of autism a real challenge.To improve early detection,we need to overcome various challenges,such as raising community awareness of early signs of autism,improving access to diagnostic tools,reducing the stigma attached to the diagnosis of autism,and addressing various culturally sensitive concepts related to the disorder.