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Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) that affects approximately 4% of males and 1% of females in the United States. While causes of ASD are multi-factorial, single rare genetic variants contribute to around 20% of cases. Here, we report a case series of seven unrelated probands (6 males, 1 female) with ASD or another variable NDD phenotype attributed to de novo heterozygous loss of function or missense variants in the gene LARP1 (La ribonucleoprotein 1). LARP1 encodes an RNA-binding protein that post-transcriptionally regulates the stability and translation of thousands of mRNAs, including those regulating cellular metabolism and metabolic plasticity. Using lymphocytes collected and immortalized from an index proband who carries a truncating variant in one allele of LARP1, we demonstrated that lower cellular levels of LARP1 protein cause reduced rates of aerobic respiration and glycolysis. As expression of LARP1 increases during neurodevelopment, with higher levels in neurons and astrocytes, we propose that LARP1 haploinsufficiency contributes to ASD or related NDDs through attenuated metabolic activity in the developing fetal brain.

BackgroundPrenatal exposure to metals is hypothesized to be associated with child autism. We aim to investigate the joint and individual effects of prenatal exposure to urine metals including lead (Pb), mercury (Hg), manganese (Mn), and selenium (Se) on child Social Responsiveness Scale (SRS) scores.MethodsWe used data from 2 cohorts enriched for likelihood of autism spectrum disorder (ASD): Early Autism Risk Longitudinal Investigation (EARLI) and the Markers of Autism Risk in Babies-Learning Early Signs (MARBLES) studies. Metal concentrations were measured in urine collected during pregnancy. We used Bayesian Kernel Machine Regression and linear regression models to investigate both joint and independent associations of metals with SRS Z-scores in each cohort. We adjusted for maternal age at delivery, interpregnancy interval, maternal education, child race/ethnicity, child sex, and/or study site.ResultsThe final analytic sample consisted of 251 mother-child pairs. When Pb, Hg, Se, and Mn were at their 75th percentiles, there was a 0.03 increase (95% credible interval [CI]: -0.11, 0.17) in EARLI and 0.07 decrease (95% CI: -0.29, 0.15) in MARBLES in childhood SRS Z-scores, compared to when all 4 metals were at their 50th percentiles. In both cohorts, increasing concentrations of Pb were associated with increasing values of SRS Z-scores, fixing the other metals to their 50th percentiles. However, all the 95% credible intervals contained the null.ConclusionsThere were no clear monotonic associations between the overall prenatal metal mixture in pregnancy and childhood SRS Z-scores at 36 months. There were also no clear associations between individual metals within this mixture and childhood SRS Z-scores at 36 months. The overall effects of the metal mixture and the individual effects of each metal within this mixture on offspring SRS Z-scores might be heterogeneous across child sex and cohort. Further studies with larger sample sizes are warranted.

BackgroundMaternal inflammation can result from immune dysregulation and metabolic perturbations during pregnancy. Whether conditions associated with inflammation during pregnancy increase the likelihood of autism spectrum disorder (ASD) or other neurodevelopmental disorders (DDs) is not well understood.MethodsWe conducted a case-control study among children born in California from 2011 to 2016 to investigate maternal immune-mediated and cardiometabolic conditions during pregnancy and risk of ASD (n = 311) and DDs (n = 1291) compared with children from the general population (n = 967). Data on maternal conditions and covariates were retrieved from electronic health records. Maternal genetic data were used to assess a causal relationship.ResultsUsing multivariable logistic regression, we found that mothers with asthma were more likely to deliver infants later diagnosed with ASD (odds ratio [OR] = 1.62, 95% CI: 1.15-2.29) or DDs (OR = 1.30, 95% CI: 1.02-1.64). Maternal obesity was also associated with child ASD (OR = 1.51, 95% CI: 1.07-2.13). Mothers with both asthma and extreme obesity had the greatest odds of delivering an infant later diagnosed with ASD (OR = 16.9, 95% CI: 5.13-55.71). These increased ASD odds were observed among female children only. Polygenic risk scores for obesity, asthma, and their combination showed no association with ASD risk. Mendelian randomization did not support a causal relationship between maternal conditions and ASD.ConclusionsInflammatory conditions during pregnancy are associated with risk for neurodevelopmental disorders in children. These risks do not seem to be due to shared genetic risk; rather, inflammatory conditions may share nongenetic risk factors with neurodevelopmental disorders. Children whose mothers have both asthma and obesity during pregnancy may benefit from earlier screening and intervention.

Study Design. Retrospective analysis of prospectively collected data. Objective. To evaluate how preexisting adjacent segment degeneration status impacts revision risk for adjacent segment disease (ASD) after lumbar fusions. Summary of Background Data. ASD incurs late reoperations after lumbar fusion surgeries. ASD pathogenesis is multifactorial. Preexisting adjacent segment degeneration, measured by Pfirrmann, is suggested as one of the predisposing factors. We sought to find deeper insights into this association by using a more granular degeneration measure, the combined imaging score (CIS). Patients and Methods. A total of 197 consecutive lumbar fusions for degenerative pathologies were enrolled in a prospective follow-up (median: 12 yr). Preoperative cranial adjacent segment degeneration status was determined using Pfirrmann and CIS, which utilize both radiographs and magnetic resonance imaging. On the basis of CIS, patients were trichotomized into tertiles (CIS < 7, CIS 7-10, and CIS >10). The cumulative ASD revision risk was determined for each tertile. After adjusting for age, sex, body mass index, sacral fixation, and fusion length, hazard ratios (95% CI) for ASD revisions were determined for each Pfirrmann and CIS score. Results. Patients in the intermediate CIS tertile had a cumulative ASD revision risk of 25.4% (17.0%-37.0%), while both milder degeneration (CIS < 7) [13.2% (6.5%-25.8%)] and end-stage degeneration (CIS > 10) [13.6% (7.0%-25.5%)] appeared to be protective against surgical ASD. Pfirrmann failed to show a significant association with ASD revision risk. Adjusted analysis of CIS suggested increased ASD revisions after CIS 7, which turned contrariwise after CIS 10. Conclusions. The effect of preexisting adjacent segment degeneration on ASD reoperation risk is not linear. The risk appears to increase with advancing degeneration but diminishes with endstage degeneration. Therefore, end-stage degenerative segments may be considered to be excluded from fusion constructs. [ABSTRACT FROM AUTHOR]

Purpose: Neurodevelopmental disorders (ND) have been recognized as the most common and potentially most disabling outcome of congenital diaphragmatic hernia (CDH). Our aim was to evaluate the incidence of ND in patients with a history of CDH referred for ND assessment on the basis of clinically relevant symptoms rather than through a screening process. Methods: The study was a nationwide, population-based prospective nested case–control study within a cohort of newborn children who survived the newborn period in Sweden during the observational period from 1st January 1982 until 31st December 2015. Results: In the study period, 641 non-syndromic CDH survivors were identified, and 3080 control cases were selected. Significantly higher incidence of clinically relevant any ND (11.5% vs 5.6%,p < 0.001), ASD (3.9% vs 2.1%,p:0.011), and intellectual disorder (6.6% vs 0.7%,p < 0.001) were observed in CDH compared to controls. When compared with controls, those with CDH were found to have a 2.179 times higher risk to develop any ND (p < 0.001), 1.867 times higher risk for ASD (p = 0.008), and 10.63 times higher for intellectual disorder (p < 0.001). Conclusion: CDH survivors have a higher risk of clinically relevant ND than the general population, independent of the effect of screening. [ABSTRACT FROM AUTHOR]

This study aims to explore an autoencoder-based method for generating brain MRI images of patients with Autism Spectrum Disorder (ASD) and non-ASD individuals, and to discriminate ASD based on the generated images. Initially, we introduce the research background of ASD and related work, as well as the application of deep learning in the field of medical imaging. Subsequently, we detail the architecture and training process of the proposed autoencoder model, and present the results of generating MRI images for ASD and non-ASD patients. Following this, we designed an ASD classifier based on the generated images and elucidated its structure and training methods. Finally, through analysis and discussion of experimental results, we validated the effectiveness of the proposed method and explored future research directions and potential clinical applications. This research offers new insights and methodologies for addressing challenges in ASD studies using deep learning technology, potentially contributing to the automated diagnosis and research of ASD. [ABSTRACT FROM AUTHOR]

Microtubule affinity-regulating kinase 2 (MARK2) contributes to establishing neuronal polarity and developing dendritic spines. Although large-scale sequencing studies have associated MARK2 variants with autism spectrum disorder (ASD), the clinical features and variant spectrum in affected individuals with MARK2 variants, early developmental phenotypes in mutant human neurons, and the pathogenic mechanism underlying effects on neuronal development have remained unclear. Here, we report 31 individuals with MARK2 variants and presenting with ASD, other neurodevelopmental disorders, and distinctive facial features. Loss-of-function (LoF) variants predominate (81%) in affected individuals, while computational analysis and in vitro expression assay of missense variants supported the effect of MARK2 loss. Using proband-derived and CRISPR-engineered isogenic induced pluripotent stem cells (iPSCs), we show that MARK2 loss leads to early neuronal developmental and functional deficits, including anomalous polarity and dis-organization in neural rosettes, as well as imbalanced proliferation and differentiation in neural progenitor cells (NPCs). Mark2 +/− mice showed abnormal cortical formation and partition and ASD-like behavior. Through the use of RNA sequencing (RNA-seq) and lithium treatment, we link MARK2 loss to downregulation of the WNT/β-catenin signaling pathway and identify lithium as a potential drug for treating MARK2 -associated ASD. [Display omitted] MARK2 plays essential roles in the central nervous system. Here, we demonstrate the association between MARK2 variants, downregulated WNT/β-catenin signaling, and autism spectrum disorder (ASD) through the study of individuals with ASD and Mark2 +/− mice. [ABSTRACT FROM AUTHOR]

Introduction: Children diagnosed with autism spectrum disorder (ASD) commonly encounter difficulties in social interactions and communication, significantly affecting their overall wellbeing. One proposed strategy to address these challenges is through physical exercise interventions. This study aims to conduct a meta-analysis to assess the impact of physical exercise interventions on the social skills of children with ASD. Methods: To perform this meta-analysis, we followed the Preferred Reporting Items of Systematic Reviews and Meta-Analyses (PRISMA) Statement and the practical guide for transparent reporting of systematic reviews. Eligible studies included randomized controlled trials or quasi-experimental studies investigating the effects of physical exercise interventions on social skills among children with ASD. We used the standardized mean difference (SMD) to measure effect size. Results: Sixteen studies were included in the meta-analysis. The results indicated a significant improvement in social skills among children with ASD following physical exercise interventions (SMD = −0.54, 95% CI = [−0.63; −0.44]). The moderator analysis underscored the crucial role of age in explaining the intervention outcomes for enhancing social skills, with interventions lasting more than 12 weeks recommended for better social skills improvement. Discussion: The findings of this meta-analysis provide robust evidence supporting the efficacy of physical exercise interventions in enhancing the social skills of children with ASD. The moderator analysis underscores the importance of considering both the mean age and duration of interventions when implementing such programs. These results underscore the significance of physical exercise as a viable option for improving social skills in this population. [ABSTRACT FROM AUTHOR]

Objective: Individuals with autism spectrum disorder (ASD) exhibit impaired behavior synchronization, which is associated with social deficits. Numerous studies have demonstrated that rhythm-based interventions can effectively mitigate social deficits by promoting behavioral synchronization in individuals with ASD. Therefore, a review of the current literature is warranted in this field. The objectives of this review were to explore the effects of rhythm-based interventions on overall social skills and to study the differences in the effects of rhythm-based interventions on specific social skills. Method: The databases PubMed, Web of Science, Scopus, and Psycinfo were systematically explored until March 2024. A total of eleven research studies, encompassing 408 participants diagnosed with ASD, were incorporated into the meta-analysis. Effect sizes (Hedges' g) were computed for each comparison and amalgamated using random-effects models to evaluate the social skills of individuals with ASD. The methodological quality of each study was evaluated using the Physiotherapy Evidence Database scale(PEDro). Results: Overall, some valuable observations were made. Rhythm-based interventions had a medium effect on the overall social skills for ASD (Hedges's=0.681; 95%CI[0.075 to 1.286], P < 0.05). Regarding domain-specific social skills, rhythm-based interventions had a large effect on social interaction (g = 1.299,95% CI [0.508 to 2.091]), a small effect on communication (g = 0.383, 95% CI [0.033 to 0.733], P < 0.05), and a large effect on emotion (g = 1.752, 95% CI [0.294 to 3.210], P < 0.05). However, we found a favorable but non-significant effect (g = 0.125, 95% CI [-0.039 to 0.289], P > 0.05) of rhythm-based interventions on empathy. All study qualities were high (score≥6) using the Physiotherapy Evidence Database (PEDro) scale assessment. Conclusion: This result indicates the importance of rhythm in the clinical rehabilitation of individuals with ASD. We suggest adding appropriate rhythmic elements to clinical interventions, particularly for individuals with ASD who are less socially competent. [ABSTRACT FROM AUTHOR]

Background: Stigma, anxiety and depressive symptoms are highly prevalent in parents of children with autism spectrum disorder (ASD) and may have a detrimental impact on the rehabilitation and treatment of children with ASD, ultimately leading to more behavioral issues and higher rates of disability. Therefore, the purpose of this study was to identify the association between general self-efficacy, courtesy stigma, and anxiety and depressive symptoms, and to further discuss whether general self-efficacy moderated the association between courtesy stigma and anxiety and depressive symptoms in parents of children with ASD. Methods: A total of 409 parents of children with ASD from Lianyungang, Jiangsu Province, Eastern China participated in a cross-sectional survey. A structured questionnaire was used to collect sociodemographic characteristics, courtesy stigma, general self-efficacy, anxiety symptoms, and depressive symptoms. Hierarchical multiple regression was used to assess the associations of courtesy stigma, general self-efficacy and courtesy stigma × general self-efficacy interaction with anxiety and depressive symptoms. Simple slope analysis was used to visualize the interaction. Results: The courtesy stigma of parents of children with ASD was positively correlated with anxiety (B = 0.374, P < 0.001) and depressive symptoms (B = 0.366, P < 0.001). General self-efficacy was negatively correlated with anxiety (B = -0.200, P < 0.001) and depressive symptoms (B = -0.210, P < 0.001). The association between courtesy stigma and anxiety symptoms was different in the high (1 standard deviation (SD) above the mean, b = 0.258, standard error (SE) = 0.056, t = 4.567, P < 0.001) and low (1 SD below the mean, b = 0.470, SE = 0.053, t = 8.870, P < 0.001) groups of general self-efficacy. In addition, the association between courtesy stigma and depressive symptoms was also different in the high (1 SD above the mean, b = 0.241, SE = 0.056, t = 4.268, P < 0.001) and low (1 SD below the mean, b = 0.469, SE = 0.053, t = 8.844, P < 0.001) groups of general self-efficacy. Conclusions: General self-efficacy could moderate the impact of courtesy stigma on anxiety and depressive symptoms. Therefore, among parents of children with ASD who experienced high courtesy stigma, enhancing general self-efficacy could be an effective strategy to reduce anxiety and depressive symptoms in this population. [ABSTRACT FROM AUTHOR]

Background: Within cohorts of children with autism spectrum disorder (ASD) there is considerable variation in terms of language ability. In the past, it was believed that children with ASD either had delayed articulation and phonology skills or excelled in those areas compared to other language domains. Very little is known about speech sound ability in relation to language ability and non‐verbal ability in Swedish preschool children with ASD. Aim: The current study aimed to describe language variation in a group of 4–6‐year‐old children with ASD, focusing on in‐depth analyses of speech sound error patterns with and without non‐phonological language disorder and concomitant non‐verbal delays. Method & Procedures: We examined and analysed the speech sound skills (including consonant inventory, percentage of correct consonants and speech sound error patterns) in relation to receptive language skills in a sample of preschool children who had screened positive for ASD in a population‐based screening at 2.5 years of age. Seventy‐three children diagnosed with ASD participated and were divided into subgroups based on their receptive language (i.e., non‐phonological language) and non‐verbal abilities. Outcomes & Results: The subgroup division revealed that 29 children (40%) had language delay/disorder without concurrent non‐verbal general cognitive delay (ALD), 27 children (37%) had language delay/disorder with non‐verbal general cognitive delay (AGD), and 17 children (23%) had language and non‐verbal abilities within the normal range (ALN). Results revealed that children with ALD and children with AGD both had atypical speech sound error patterns significantly more often than the children with ALN. Conclusions & Implications: This study showed that many children who had screened positive for ASD before age 3 years – with or without non‐verbal general cognitive delays – had deficits in language as well as in speech sound ability. However, individual differences were considerable. Our results point to speech sound error patterns as a potential clinical marker for language problems (disorder/delay) in preschool children with ASD. WHAT THIS PAPER ADDS: What is already known on the subject: Children with autism spectrum disorder (ASD) have deficits in social communication, restricted interests and repetitive behaviour. They show very considerable variation in both receptive and expressive language abilities. Previously, articulation and phonology were viewed as either delayed in children with ASD or superior compared with other (non‐phonological) language domains. What this paper adds to existing knowledge: Children with ASD and language disorders also have problems with speech sound error patterns. What are the potential or actual clinical implications of this work?: About 75% of children with ASD experience language delays/disorders, as well as speech sound problems, related to speech sound error patterns. Understanding/acknowledging these phonological patterns and their implications can help in the diagnosis and intervention of speech sound disorders in children with ASD. Direct intervention targeting phonology might lead to language gains, but more research is needed. [ABSTRACT FROM AUTHOR]

This study assessed the effectiveness of modified schema-based instruction (MSBI) in teaching students with autism spectrum disorder (ASD) how to solve additive compare word problems. The study was conducted in Spain, and it involved three students with ASD who were 6, 7, and 9 years of age. A single-case, multiple-baseline across-students design was followed. Results indicated a functional relation between MSBI and improved performance in solving additive compare problems of type difference amount unknown and compare amount unknown, maintained for 4 to 6 weeks post-intervention. Additionally, two students successfully applied their skills to reference-amount-unknown compare problems, demonstrating successful generalization. However, their generalization to problems involving two operations was somewhat limited by difficulties with one of the operations. Social validity data collected from the students' families and teachers indicated that both groups had positive views on the use of the MSBI for mathematical word problem-solving skills. [ABSTRACT FROM AUTHOR]

Attention Deficit Hyperactivity Disorder (ADHD) is the most common comorbidity in Autism Spectrum Disorder (ASD). ADHD is a risk factor for alcohol misuse whereas ASD is often regarded as protective; however, research on ASD and alcohol use has yielded conflicting findings, sometimes implicating the role of comorbid ADHD. The possibility that certain transdiagnostic features (i.e., characteristics associated with multiple disorders) may underlie relationships of both disorders to alcohol use in adults was examined in the present study. A nonclinical young adult sample of 248 alcohol users (117 men, 131 women) completed validated self-report measures of ASD and ADHD symptoms as well as the transdiagnostic features alexithymia, impulsivity, and negative moods. ASD and ADHD symptoms were normally distributed, suggesting that the respective disorders represent extreme, dysfunctional ends of population distributions of symptoms. Path analysis indicated that the significant positive association between ASD and ADHD symptom measures was fully mediated by alexithymia, impulsivity, and negative moods. Hierarchical regression and path analysis indicated that the positive relationship between ADHD symptoms and alcohol use severity was fully mediated by transdiagnostic features, particularly alexithymia and impulsivity, whereas the relationship between ASD and alcohol use severity was positively mediated by these features (especially alexithymia), with a highly significant and negative direct effect. Present findings may help reconcile previous conflicting evidence on the relationship of ASD to alcohol use, and the role of comorbid ADHD, by emphasizing the roles of alexithymia and impulsivity in both ASD and ADHD as transdiagnostic traits promoting excessive drinking. • ADHD is the most common comorbidity in ASD and is a risk factor for alcohol misuse. • Alexithymia, impulsivity and negative mood mediated the positive association of ADHD symptoms with alcohol use. • Alexithymia, impulsivity and negative mood also mediated a positive indirect association of ASD symptoms with alcohol use. • The direct effect of ASD symptoms indicated a negative relationship to alcohol use severity. • Findings suggest that alexithymia should be taken into account when investigating the relationship of ASD to alcohol use. [ABSTRACT FROM AUTHOR]

Given the close connection between eye movement and frontal lobe functions and some evidence supporting the effect of eye‐tracking training on enhancing cognitive performance mediated by the frontal lobe, this study aimed to explore if after‐school eye‐tracking training can improve the visuospatial working memory (VSWM) and cognitive flexibility performance in children with attention‐deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). This study is a non‐randomized cluster trial. Forty children from eight primary schools were selected, half receiving eye‐tracking training for 20 sessions over 9 months, while the other half served as a waitlist control. They were matched on demographic characteristics and baseline cognitive performance. Their VSWM and cognitive flexibility were assessed at the beginning and end of the study. Results showed that children who received eye‐tracking training, but not those on a waitlist, exhibited significant improvements in the total score and working memory span of the VSWM tests, and the correct responses in cognitive flexibility tests. Specifically, VSWM performance at higher span levels (5 or above) yielded a greater improvement. The findings suggest that eye‐tracking training can be a feasible and effective after‐school program for improving working memory and cognitive flexibility performance in children with ADHD and ASD. This study was prospectively registered at ClinicalTrials.gov (https://clinicaltrials.gov/, trial number: NCT05428657). Lay Summary: Research studies have shown that using eye‐tracking technology to train the brain can improve cognitive performance of different brain disorders. In this study, we discovered that children with attention‐deficit/hyperactivity disorder (ADHD) and autism improved their ability to remember visual information and became better at thinking flexibly after participating in 20 sessions of eye‐tracking training. This suggests that eye‐tracking training has the potential to help children with ADHD and autism improve their memory and thinking skills. [ABSTRACT FROM AUTHOR]

Autism spectrum disorder (ASD) is a neuro-developmental disorder that results in narrow interest and impairments in communication and social relationships. Usually, unknown contexts generate anxiety and frustration in persons with ASD, and great impediment in accessing services, including health ones. This seriously compromises prevention and treatment interventions in different medical areas. Technology offers many opportunities for persons with ASD and can be used to act as a mediator, helping to manage communication and interpersonal relationships and to familiarize with the environment, especially in new contexts. Specifically, we used digital tools to reduce stress and anxiety while teaching adequate dental care to children with ASD (MyDentist project). To generalize the R&D approach, we followed in the context of the MyDentist project for its adoption for research and development of inclusive software in e-health. We analyze our design and development process using the three-cycle model proposed by Hevner: the relevance cycle, which connects design with the environment; the rigor cycle, which connects design with the grounding theory; and the design cycle, which builds and evaluates artifacts. We present the results obtained in the project and the lessons learned. Lessons are formalized as guidelines that are further validated by a focus group including experts and stakeholders. A set of guidelines which can drive software development and research in similar contexts. Our research will benefit e-health researchers to perform rigorous and relevant Design Science Research. It will also inform software developers of e-health solutions and healthcare professionals. [ABSTRACT FROM AUTHOR]

Background: Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) characterized by significant impairments in social, communicative, and behavioral abilities. However, only a limited number of studies address the genetic basis of ASD in the African population. This study aims to document the genes associated with ASD in Africa and the techniques used to identify them. Additionally, genes identified elsewhere but not yet in Africa are also noted. Methods: Online databases such as Wiley Online Library, PubMed, and Africa Journal Online were used. The review was conducted using the keyword related to genetic and genomic ASD study in the African population. Result: In this scoping review, 40 genetic studies on ASD in Africa were reviewed. The Egyptian and South African populations were the most studied, with 25 and 5 studies, respectively. Countries with fewer studies included Tunisia (4), East African countries (3), Libya (1), Nigeria (1), and Morocco (1). Some 61 genes responsible for ASD were identified in the African population: 26 were identified using a polymerase chain reaction (PCR)-based method, 22 were identified using sequencing technologies, and 12 genes and one de novo chromosomal aberration were identified through other techniques. No African study identified any ASD gene with genome-wide association studies (GWAS). Notably, at least 20 ASD risk genes reported in non-African countries were yet to be confirmed in Africa's population. Conclusion: There are insufficient genetic studies on ASD in the African population, with sample size being a major limitation in most genetic association studies, leading to inconclusive results. Thus, there is a need to conduct more studies with large sample sizes to identify other genes associated with ASD in Africa's population using high-throughput sequencing technology. [ABSTRACT FROM AUTHOR]

To increase the number of family‐based interventions and deal directly with the family dynamic that creates maladaptive manners of coping and connection, structural family therapy (SFT) for autism spectrum disorder (ASD) was developed. The model slowly supports families in being more flexible in their relationships and dynamics while imparting interpersonal skills which enhance communication particularly between the children with ASD and their parents by reforming and supporting an appropriate family structure and family dynamic. [ABSTRACT FROM AUTHOR]

This study aims to explore an autoencoder-based method for generating brain MRI images of patients with Autism Spectrum Disorder (ASD) and non-ASD individuals, and to discriminate ASD based on the generated images. Initially, we introduce the research background of ASD and related work, as well as the application of deep learning in the field of medical imaging. Subsequently, we detail the architecture and training process of the proposed autoencoder model, and present the results of generating MRI images for ASD and non-ASD patients. Following this, we designed an ASD classifier based on the generated images and elucidated its structure and training methods. Finally, through analysis and discussion of experimental results, we validated the effectiveness of the proposed method and explored future research directions and potential clinical applications. This research offers new insights and methodologies for addressing challenges in ASD studies using deep learning technology, potentially contributing to the automated diagnosis and research of ASD. [ABSTRACT FROM AUTHOR]

The article "The repressed life of adult female patients with mild ADHD" published in Frontiers in Psychiatry discusses the overlooked characteristics of adult females with mild ADHD, focusing on their daily struggles and psychopathological phenotypes. It highlights the challenges faced by these individuals in the workplace, their tendency to camouflage their symptoms, and the prevalence of comorbidities such as anxiety disorders. The article also addresses the cultural differences in symptom manifestation and the impact of ADHD on social activities. The authors emphasize the need for a better understanding of these individuals to prevent underdiagnosis or misdiagnosis. [Extracted from the article]

Introduction: Children diagnosed with autism spectrum disorder (ASD) commonly encounter difficulties in social interactions and communication, significantly affecting their overall wellbeing. One proposed strategy to address these challenges is through physical exercise interventions. This study aims to conduct a meta-analysis to assess the impact of physical exercise interventions on the social skills of children with ASD. Methods: To perform this meta-analysis, we followed the Preferred Reporting Items of Systematic Reviews and Meta-Analyses (PRISMA) Statement and the practical guide for transparent reporting of systematic reviews. Eligible studies included randomized controlled trials or quasi-experimental studies investigating the effects of physical exercise interventions on social skills among children with ASD. We used the standardized mean difference (SMD) to measure effect size. Results: Sixteen studies were included in the meta-analysis. The results indicated a significant improvement in social skills among children with ASD following physical exercise interventions (SMD = -0.54, 95% CI = [-0.63; -0.44]). The moderator analysis underscored the crucial role of age in explaining the intervention outcomes for enhancing social skills, with interventions lasting more than 12 weeks recommended for better social skills improvement. Discussion: The findings of this meta-analysis provide robust evidence supporting the efficacy of physical exercise interventions in enhancing the social skills of children with ASD. The moderator analysis underscores the importance of considering both the mean age and duration of interventions when implementing such programs. These results underscore the significance of physical exercise as a viable option for improving social skills in this population. [ABSTRACT FROM AUTHOR]

Background: Stigma, anxiety and depressive symptoms are highly prevalent in parents of children with autism spectrum disorder (ASD) and may have a detrimental impact on the rehabilitation and treatment of children with ASD, ultimately leading to more behavioral issues and higher rates of disability. Therefore, the purpose of this study was to identify the association between general self-efficacy, courtesy stigma, and anxiety and depressive symptoms, and to further discuss whether general self-efficacy moderated the association between courtesy stigma and anxiety and depressive symptoms in parents of children with ASD. Methods: A total of 409 parents of children with ASD from Lianyungang, Jiangsu Province, Eastern China participated in a cross-sectional survey. A structured questionnaire was used to collect sociodemographic characteristics, courtesy stigma, general self-efficacy, anxiety symptoms, and depressive symptoms. Hierarchical multiple regression was used to assess the associations of courtesy stigma, general self-efficacy and courtesy stigma x general selfefficacy interaction with anxiety and depressive symptoms. Simple slope analysis was used to visualize the interaction. Results: The courtesy stigma of parents of children with ASD was positively correlated with anxiety (B = 0.374, P < 0.001) and depressive symptoms (B = 0.366, P < 0.001). General self-efficacy was negatively correlated with anxiety (B = -0.200, P < 0.001) and depressive symptoms (B = -0.210, P < 0.001). The association between courtesy stigma and anxiety symptoms was different in the high (1 standard deviation (SD) above the mean, b = 0.258, standard error (SE) = 0.056, t = 4.567, P < 0.001) and low (1 SD below the mean, b = 0.470, SE = 0.053, t = 8.870, P < 0.001) groups of general self-efficacy. In addition, the association between courtesy stigma and depressive symptoms was also different in the high (1 SD above the mean, b = 0.241, SE = 0.056, t = 4.268, P < 0.001) and low (1 SD below the mean, b = 0.469, SE = 0.053, t = 8.844, P < 0.001) groups of general self-efficacy. Conclusions: General self-efficacy could moderate the impact of courtesy stigma on anxiety and depressive symptoms. Therefore, among parents of children with ASD who experienced high courtesy stigma, enhancing general self-efficacy could be an effective strategy to reduce anxiety and depressive symptoms in this population. [ABSTRACT FROM AUTHOR]

Background/Objectives: Early diagnosis of autism spectrum disorder (ASD) is a very important factor for improving the quality of life of people on the spectrum, but it still remains a major problem in Europe, especially concerning girls. In this study, we tried to answer the question of what factors affect the age of diagnosis in Poland. Additionally, we tried to establish the time between the first visit to the mental health center (MHC) and the diagnosis in this population, and what factors affect its length. Methods: 77 children were randomly recruited among the patients who came to local MHC at the Child and Family Health Centre in Sosnowiec. All participants were tested using the ADOS-2 protocol. In addition, the study used the TAS-20 test and BDI. Results: The mean age of the first enrollment in the MHC was 9.09 years for girls and 6.42 for the boys. The time needed to obtain a diagnosis from the first visit was consecutively 2.90 years and 4.29 years, but the difference was not statistically significant (p > 0.05). Obtaining a different psychiatric diagnosis did not affect the average time to diagnosis and the age of diagnosis. Conclusions: The results of the study indicate that the diagnosis of ASD is still a significant problem both in Poland and in the world. Obtaining an accurate diagnosis requires significant time, and it frequently involves consulting multiple specialists. The diagnostic process should be flexible, and the specialist should always take into account the axial symptoms but remain aware that the "overdiagnosis" of ASD can also have harmful consequences for the child. [ABSTRACT FROM AUTHOR]

The etiology of autism spectrum disorder (ASD) has not yet been completely elucidated. Through time, multiple attempts have been made to uncover the causes of ASD. Different theories have been proposed, such as being caused by alterations in the gut–brain axis with an emphasis on gut dysbiosis, post-vaccine complications, and genetic or even autoimmune causes. In this review, we present data covering the main streams that focus on ASD etiology. Data collection occurred in many countries covering ethnically diverse subjects. Moreover, we aimed to show how the progress in genetic techniques influences the explanation of medical White Papers in the ASD area. There is no single evidence-based pathway that results in symptoms of ASD. Patient management has constantly only been symptomatic, and there is no ASD screening apart from symptom-based diagnosis and parent-mediated interventions. Multigene sequencing or epigenetic alterations hold promise in solving the disjointed molecular puzzle. Further research is needed, especially in the field of biogenetics and metabolomic aspects, because young children constitute the patient group most affected by ASD. In summary, to date, molecular research has confirmed multigene dysfunction as the causative factor of ASD, the multigene model with metabolomic influence would explain the heterogeneity in ASD, and it is proposed that ion channel dysfunction could play a core role in ASD pathogenesis. [ABSTRACT FROM AUTHOR]

Comorbidity between neurodevelopmental disorders is common, especially between autism spectrum disorder (ASD) and attention deficit/hyperactivity disorder (ADHD). This study aimed to detect overlapped sensory processing alterations in a sample of children and adolescents diagnosed with both ASD and ADHD. A collection of 42 standard and 8 proposed machine learning classifiers, 22 feature selection methods and 19 unbalanced classification strategies were applied on the 6 standard question groups of the Sensory Profile-2 questionnaire. The relatively low performance achieved by state-of-the-art classifiers led us to propose the feature population sum classifier, a probabilistic method based on class and feature value populations, designed for datasets where features are discrete numeric answers to questions in a questionnaire. The proposed method achieves the best kappa and accuracy, 60% and 82.5%, respectively, reaching 68% and 86.5% combined with backward sequential feature selection, with false positive and negative rates below 15%. Since the SP2 questionnaire can be filled by parents for children from three years, our prediction can alert the clinicians with an early diagnosis in order to apply early interventions. [ABSTRACT FROM AUTHOR]

Objective: Individuals with autism spectrum disorder (ASD) exhibit impaired behavior synchronization, which is associated with social deficits. Numerous studies have demonstrated that rhythm-based interventions can effectively mitigate social deficits by promoting behavioral synchronization in individuals with ASD. Therefore, a review of the current literature is warranted in this field. The objectives of this review were to explore the effects of rhythm-based interventions on overall social skills and to study the differences in the effects of rhythm-based interventions on specific social skills. Method: The databases PubMed, Web of Science, Scopus, and Psycinfo were systematically explored until March 2024. A total of eleven research studies, encompassing 408 participants diagnosed with ASD, were incorporated into the meta-analysis. Effect sizes (Hedges' g) were computed for each comparison and amalgamated using random-effects models to evaluate the social skills of individuals with ASD. The methodological quality of each study was evaluated using the Physiotherapy Evidence Database scale(PEDro). Results: Overall, some valuable observations were made. Rhythm-based interventions had a medium effect on the overall social skills for ASD (Hedges's=0.681; 95%CI[0.075 to 1.286], P < 0.05). Regarding domain-specific social skills, rhythm-based interventions had a large effect on social interaction (g = 1.299,95% CI [0.508 to 2.091]), a small effect on communication (g = 0.383, 95% CI [0.033 to 0.733], P < 0.05), and a large effect on emotion (g = 1.752, 95% CI [0.294 to 3.210], P < 0.05). However, we found a favorable but non-significant effect (g = 0.125, 95% CI [-0.039 to 0.289], P > 0.05) of rhythm-based interventions on empathy. All study qualities were high (score=6) using the Physiotherapy Evidence Database (PEDro) scale assessment. Conclusion: This result indicates the importance of rhythm in the clinical rehabilitation of individuals with ASD. We suggest adding appropriate rhythmic elements to clinical interventions, particularly for individuals with ASD who are less socially competent. [ABSTRACT FROM AUTHOR]

Automatic Speaker Verification (ASV) systems are crucial in various fields, enabling speaker identification for authentication, fraud detection, and forensic applications. While the simplicity and effectiveness of speech biometrics are driving the demand for ASV systems, their increasing popularity raises concerns about vulnerability to speech attacks. To enhance the security of these systems, the work in this paper proposes a spectrogram-based solution that leverages the robustness of spectrograms in audio analysis and feature extraction. The proposed model consists of two main components: frontend and backend. In the frontend, it introduces a novel spectrogram MelCochleaGram (MCG) by fusing Mel Spectrogram and Cochleagram, sequentially. For the backend implementation, pre-trained deep learning models, including ResNet50, ResNet50V2, and InceptionV3, are employed using the Keras framework. These models are individually paired with MCG to detect deepfake and replay attacks. To validate the effectiveness of the proposed system, thorough experimentation is conducted on two datasets: the DEepfake CROss-lingual (DECRO) evaluation dataset and the Voice Spoofing Detection Corpus (VSDC). The proposed combination of MCG with ResNet50 has achieved an Equal Error Rate (EER) of 0.2%, and 1.2% for deepfake detection over DECRO English and Chinese datasets, respectively. Also, for replay attack detection, the proposed combination has produced an EER of 1.4%. [ABSTRACT FROM AUTHOR]

Background/Objectives: Figurative language is a central tool for enriching spoken and written languages, and it is important for building social relationships. Difficulties in figurative language understanding may impair social adjustment. Some studies have found more gaps in the understanding of irony and idioms among children with autism spectrum disorder (ASD) compared to those of their peers with typical development (TD). To date, no studies have examined the relationship between the ability to understand social situations (as a separate ability) and the ability to understand irony and idioms. The present study examined the roles of theory of mind (ToM) and social situation understanding in the comprehension of idioms and ironic criticism. Methods: The current study included 58 participants aged 8–11, including 28 children with high-functioning ASD and 30 children with TD matched by age, gender, and nonverbal intelligence. All the participants completed a ToM questionnaire that assesses their understanding of others' intentions, as well as a questionnaire pertaining to their comprehension of social situations, ironic criticism, and idioms. Results: TD children outperformed the autistic children in idiom and irony understanding, as well as in ToM and social situation understanding. Understanding social situations and ToM contributed to idiom and irony understanding, with ToM ability uniquely contributing to irony (but not to idiom) understanding. Path analysis revealed that social cognitive abilities mediated the link between group affiliation and vocabulary, affecting figurative language comprehension. Conclusions: The present study demonstrates that social cognition skills influence the ability to understand ironic criticism and idioms, mediating the association between vocabulary and figurative language comprehension. [ABSTRACT FROM AUTHOR]

Background/Objectives: Mindfulness-based interventions (MBIs) have emerged in recent years as a strong candidate for the treatment of a range of difficulties faced by individuals with autism spectrum disorder (ASD), including cognitive, emotional, and social aspects. Therefore, we aimed to conduct a review that systematically examined the efficacy of MBIs for individuals with ASD and their caregivers. Methods: This systematic review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Our literature search was conducted within the MEDLINE database. We included in the review only longitudinal or intervention studies focusing mainly on mindfulness principles, while we excluded mixed intervention studies. We only included studies that explicitly utilized quantitative methodologies for evaluating the outcomes of the interventions, including mental health indices (e.g., stress, anxiety, depression) and assessments of cognitive and social skills (e.g., attention, prosociality). We conducted also a risk of bias assessment through the method of the Cochrane risk of bias tool for intervention studies ROBINS-I. Results: Thirty-seven studies were included in the review, and we grouped the studies by the targets of the interventions, i.e., adults (n = 12), children and adolescents (n = 9), caregivers and medical staff (n = 13), and combined intervention for both children/adolescents and their parents/caregivers (n = 5). The reviewed papers seem to support the feasibility and utility of mindfulness interventions for persons with ASD and their caregivers, but any recommendations based on this body of evidence should be made with caution due to the overall low quality of the studies conducted so far. Conclusions: The review reveals a positive outcome, including the alleviation of psychological distress, reduced behavioral problems, and enhanced cognitive and social skills in individuals with ASD. Despite such promising results, the review notes a limitation in the scarcity of MBIs for young patients, emphasizing caution in universally endorsing the existing literature. Moreover, the results underline the urgency of the exploration of tailored interventions for different ASD subgroups, considering varying levels of autism, and expanding support to teachers in educational settings. [ABSTRACT FROM AUTHOR]

Background: Autism spectrum disorder (ASD) is related to social communication difficulties, repetitive behaviors, and highly restricted interests beginning early in life. Currently, ASD is more diagnosed than in the past, and new models are needed. The Advanced Integrative Model (AIM) is a new model in which genes and concomitant medical problems to diagnosis (CMPD) and the impact of their rigorous and adequate treatment are considered. Methods: The role of a dynamic encephalopathy from which the individual response, susceptibilities in the brain and outside the brain, gut barrier and brain–blood-barrier permeabilities, and the plastic nature of the brain is proposed as a tool for diagnosis. The concomitant medical problems (CMP) are those at and outside the brain. The individual response to treatments of CMP is analyzed. Results: The AIM allows for classification into 3 main groups and 24 subgroups. Conclusions: The groups and subgroups in ASD are obtained taking into account CMPD treatments and individual response. [ABSTRACT FROM AUTHOR]

Aim: To explore the lived-in experiences of primary caregivers of children with mental illness while taking care during the coronavirus disease 2019 (COVID-19) pandemic. Methodology: This study is a descriptive phenomenological study. Convenience sampling was used. Data were collected by in-depth interviews of 30 primary caregivers of children with mental illness, during the COVID-19 pandemic. All interviews were audio-recorded and analyzed using a thematic approach. Results: The overall aura of fear and panic brought by the pandemic found its way into the psyche of patients and the development of their illnesses during the pandemic. The entirety of the work brought out three themes and 11 subthemes as categorized for the aim of this study. Conclusion: Primary caregivers of children with mental illness during the COVID-19 pandemic reveal that lifestyle changes, such as online education, confinement, overuse of electronic gadgets, and increased laziness and lethargy in children after prolonged lockdown, were drastic changes which caregivers had to deal with. [ABSTRACT FROM AUTHOR]

Magnetoencephalography (MEG) is a non-invasive neuroimaging technique that assesses neurophysiology through the detection of the magnetic fields generated by neural currents. In this way, it is sensitive to brain activity, both in individual regions and brain-wide networks. Conventional MEG systems employ an array of sensors that must be cryogenically cooled to low temperature, in a rigid one-size-fits-all helmet. Systems are typically designed to fit adults and are therefore challenging to use for paediatric measurements. Despite this, MEG has been employed successfully in research to investigate neurodevelopmental disorders, and clinically for presurgical planning for paediatric epilepsy. Here, we review the applications of MEG in children, specifically focussing on autism spectrum disorder and attention-deficit hyperactivity disorder. Our review demonstrates the significance of MEG in furthering our understanding of these neurodevelopmental disorders, while also highlighting the limitations of current instrumentation. We also consider the future of paediatric MEG, with a focus on newly developed instrumentation based on optically pumped magnetometers (OPM-MEG). We provide a brief overview of the development of OPM-MEG systems, and how this new technology might enable investigation of brain function in very young children and infants. [ABSTRACT FROM AUTHOR]

Caregivers of children with autism spectrum disorder (ASD) often report higher rates of depression and the related negative thought patterns that may precede a clinical diagnosis. These negative thought patterns are referred to as depressive cognitions. Depressive cognitions are exacerbated by child problem behaviors (CPB) but may be impacted by parental resilience. The current study examines relations between CPB and depressive cognitions and the role of resilience as a moderator among caregivers of children with ASD (n = 287) and a sample of caregivers of children who are typically developing (n = 207). Significant positive associations were found between CPB and depressive cognitions for caregivers of children with ASD and who are typically developing. A moderation analysis revealed that, among the ASD sample, the model accounted for 33% of the variance in caregiver depressive cognitions (R2 = 0.33, SE = 35.52, p < 0.001). The interaction of child problem behaviors and caregiver resilience on caregiver depressive cognitions was statistically significant (B = − 0.016, SE = 0.007, p = 0.037), thus resilience was a significant moderator, for caregivers of children with ASD. Resilience serves as a protective factor in the relationship between child problem behavior and caregiver depressive cognitions for caregivers of children with ASD only. This finding highlights the importance of assessing and supporting resilience among caregivers of children with ASD. Interventions addressing child behavior would benefit from additional components to bolster caregiver resilience to enhance caregiver mental health and protect against depressive cognitions. [ABSTRACT FROM AUTHOR]

In the field of autism spectrum disorder (ASD), research on functional connectivity between gray matter and white matter remains under-researched. To address this gap, this study innovatively introduced a nested cross-validation method that integrates gray-white matter functional connectivity with an F-Score algorithm. This method calculates the correlation based on signals extracted from functional magnetic resonance imaging data using gray matter and white matter brain region templates. After applying the method to a New York University Langone Medical Center dataset consisting of 55 individuals with high-functioning ASD and 52 healthy subjects, we achieved a classification accuracy of 72.94%. This study found abnormal functional connectivity, primarily involving the left anterior prefrontal cortex and right superior corona radiata, left retrosplenial cortex and left superior corona radiata, as well as the left ventral anterior cingulate cortex and body of corpus callosum. Besides, we discovered that these abnormal connections are closely related to social impairment and restrictive and repetitive behaviors in ASD. In conclusion, this study provides a gray-white matter functional connectivity perspective for the diagnosis and understanding of ASD. • Using functional connectivity between the white matter and gray matter of the brain as features. • Using F-Score and nested cross-validation method for feature extraction. • A total of 38 Gy-white matter FC features were extracted, with some of these features showing correlation with the severity of social impairments and restricted and repetitive behaviors in ASD. [ABSTRACT FROM AUTHOR]

To understand whether the mental health of children and young people (CYP) with and without attention-deficit/hyperactivity disorder (ADHD) and/or autism spectrum disorder (ASD) were differentially affected by COVID-19. We analysed data (n = 6507) from the Co-Space study, a UK web-based longitudinal survey. CYP with ADHD (n = 160;2.5%), ASD (n = 465;7%), and ADHD + ASD (n = 155;2.4%) were compared with a reference group (n = 5727;88%) using parent-completed questionnaires [Strengths and Difficulties Questionnaire (SDQ) & Pandemic Anxiety Scale (PAS)]. Baseline to 1-month follow-up differences were compared using linear regression models. CYP with ADHD and/or ASD had higher scores at baseline than other CYP. At follow-up, CYP with ASD showed small but significant improvements in symptoms (SDQ), compared with the reference group. CYP with ASD experienced a worsening of disease anxiety (PAS) and CYP with ADHD a deterioration in functional impairment. These findings indicate a mixed pattern of pandemic-related impact for CYP with ADHD and/or ASD. [ABSTRACT FROM AUTHOR]

Aim: Our study utilized the Rasch analysis to examine the psychometric properties of the Autism Behavior Checklist (ABC) in children with autism spectrum disorder (ASD). Methods: A total of 3,319 children (44.77 ± 23.52 months) were included. The Rasch model (RM) was utilized to test the reliability and validity of the ABC. The GPCMlasso model was used to test the differential item functioning (DIF). Result: The response pattern of this sample showed acceptable fitness to the RM. The analysis supported the unidimensionality assumption of the ABC. Disordered category functions and DIF were found in all items in the ABC. The participants responded to the ABC items differently depending not only on autistic traits but also on age groups, gender, and symptom classifications. Conclusion: The Rasch analysis produces reliable evidence to support that the ABC can precisely depict clinical ASD symptoms. Differences in population characteristics may cause unnecessary assessment bias and lead to overestimated or underestimated symptom severity. Hence, special consideration for population characteristics is needed in making an ASD diagnosis. [ABSTRACT FROM AUTHOR]

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impaired social interaction and communication, as well as the occurrence of stereotyped and repetitive behaviors. Previous studies have provided solid evidence of dysregulated immune system in ASD; however, limited studies have investigated autoantibody profiles in individuals with ASD. This study aims to screen plasma autoantibodies in a well‐defined cohort of young children with ASD (n = 100) and their matched controls (n = 60) utilizing a high‐throughput KoRectly Expressed (KREX) i‐Ome protein‐array technology. We identified differential protein expression of 16 autoantibodies in ASD, which were correlated with differential gene expression of these markers in independent ASD cohorts. Meanwhile, we identified a distinct list of 33 autoantibodies associated with ASD severity; several of which were correlated with maternal age and birth weight in ASD. In addition, we found dysregulated numbers of circulating B cells and activated HLADR+ B cells in ASD, which were correlated with altered levels of several autoantibodies. Further in‐depth analysis of B cell subpopulations revealed an increased frequency of activated naïve B cells in ASD, as well as an association of resting naïve B cells and transitional B cells with ASD severity. Pathway enrichment analysis revealed disrupted MAPK signaling in ASD, suggesting a potential relevance of this pathway to altered autoantibodies and B cell dysfunction in ASD. Finally, we found that a combination of eight autoantibodies associated with ASD severity showed an area under the curve (ROC‐AUC) of 0.937 (95% CI = 0.890, 0.983; p < 0.001), which demonstrated the diagnostic accuracy of the eight‐marker signature in the severity classification of ASD cases. Overall, this study determined dysregulated autoantibody profiles and B cell dysfunction in children with ASD and identified an eight‐autoantibody panel for ASD severity classification. Lay Summary: Current studies suggest that autoantibodies might be a risk factor for autism. We examined the levels of hundreds of autoantibodies in blood samples of children with autism, and we compared their results to those without autism. We focused on Arab children in a narrow age range between 2 and 4 years to obtain more accurate results. We found differences in the levels of several autoantibodies in children with autism in comparison with unaffected individuals. We also examined one major type of immune cells, named B cells, which are known to produce these autoantibodies in the blood. We found lower numbers and altered activity of B cells in blood samples of individuals with autism compared with those without autism. These observations might be due to disrupted molecular functions of B cells in autism. Finally, we identified eight autoantibodies that might be useful markers for the classification of autism individuals into mild or severe cases. [ABSTRACT FROM AUTHOR]

This review explores the clinical presentation of similarities and differences in Attention-Deficit/Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD). This paper investigates the deficits in executive function, social function, and emotional intelligence that are seen in both conditions and how the presence of both conditions can exacerbate these deficiencies. Understanding the clinical presentations in these domains is critical to refine diagnostic methods and treatments and improve outcomes for those affected by these neurodevelopmental disorders. The similarities in clinical presentation between ADHD and ASD present a significant diagnostic challenge, with individuals often exhibiting similar behaviors and difficulty navigating the complexities that encompass reacting to their environment. Further research is paramount in gaining more knowledge of the disorders and challenges faced by these individuals, especially those with the presence of both conditions. [ABSTRACT FROM AUTHOR]

Communication in the form of nonverbal, social vocalization, or crying is evolutionary conserved in mammals and is impaired early in human infants that are later diagnosed with autism spectrum disorder (ASD). Defects in infant vocalization have been proposed as an early sign of ASD that may exacerbate ASD development. However, the neural mechanisms associated with early communicative deficits in ASD are not known. Here, we expressed a constitutively active mutant of Rheb (RhebS16H), which is known to upregulate two ASD core pathways, mTOR complex 1 (mTORC1) and ERK1/2, in Layer (L) 2/3 pyramidal neurons of the neocortex of mice of either sex. We found that cellular mosaic expression of RhebS16H in L2/3 pyramidal neurons altered the production of isolation calls from neonatal mice. This was accompanied by an expected misplacement of neurons and dendrite overgrowth, along with an unexpected increase in spine density and length, which was associated with increased excitatory synaptic activity. This contrasted with the known decrease in spine density in RhebS16H neurons of 1-month-old mice. Reducing the levels of the actin cross-linking and adaptor protein filamin A (FLNA), known to be increased downstream of ERK1/2, attenuated dendrite overgrowth and fully restored spine properties, synaptic connectivity, and the production of pup isolation calls. These findings suggest that upper-layer cortical pyramidal neurons contribute to communicative deficits in a condition known to affect two core ASD pathways and that these mechanisms are regulated by FLNA. [ABSTRACT FROM AUTHOR]

Autism spectrum disorders (ASD) are complex neurodevelopmental conditions characterized by impairments in social communication, repetitive behaviors, and restricted interests. Epigenetic modifications serve as critical regulators of gene expression playing a crucial role in controlling brain function and behavior. Lysine (K)-specific demethylase 6B (KDM6B), a stress-inducible H3K27me3 demethylase, has emerged as one of the highest ASD risk genes, but the precise effects of KDM6B mutations on neuronal activity and behavioral function remain elusive. Here we show the impact of KDM6B mosaic brain knockout on the manifestation of different autistic-like phenotypes including repetitive behaviors, social interaction, and significant cognitive deficits. Moreover, KDM6B mosaic knockout display abnormalities in hippocampal excitatory synaptic transmission decreasing NMDA receptor mediated synaptic transmission and plasticity. Understanding the intricate interplay between epigenetic modifications and neuronal function may provide novel insights into the pathophysiology of ASD and potentially inform the development of targeted therapeutic interventions. [ABSTRACT FROM AUTHOR]

Autism Spectrum Disorder (ASD) has a profound impact on millions of families in the United States. While Hispanic families represent the most rapidly growing demographic group within this population, little research explores their unique experiences in coping with the family impacts of ASD. This comparative study explored the lived experiences of Hispanic parents of children with ASD. Fifteen Hispanic parents were part of the studies and a comparison study was conducted deriving from both. Moutstakas' modified data analysis approach was used to theme out the findings. Four major themes emerged from the data analysis: 1) parental response 2) the other children 3) parental impact 4) future. Findings suggest ways in which the construction of the role of parenthood in a Hispanic culture held unique implications for participants as they sought and struggled to find the balance of ASD. Implications for practice and scholars with Hispanic families of children with ASD based on their lived experiences are presented. [ABSTRACT FROM AUTHOR]

Introduction: Clinical heterogeneity is one of the biggest challenges for researchers studying underlying neurobiological mechanisms in Autism Spectrum Disorder (ASD). We aimed to use polyinosinic-polycytidylic acid [Poly (I:C)] induced maternal immune activation mice model to investigate the behavioral variation and the role of brain circuits related to symptom clusters in ASD. For this purpose, behavioral tests were applied to offsprings and regional thickness was measured from histological brain sections in medial prefrontal cortex, hippocampus and striatum. Methods: Pups of intraperitoneal Poly (I:C)-applied mothers (n: 14) and phosphate buffered saline-applied mothers (n: 6) were used for this study. We used three chamber socialization test and social memory test to evaluate social behavior deficit in mice. Marble burying test was used for assessing stereotypic behavior and new object recognition test for learning and cognitive flexibility. Three subgroups (n: 4 for each) were determined according to behavioral test parameters. Regional thickness was measured in medial prefrontal cortex, hippocampus and striatum and compared between subgroups. Results: We detected that the behavioral differences were distributed in a spectrum as expected in the clinic and also detected increased hippocampus thickness in the stereotypic behavior dominant Poly (I:C) subgroup. Conclusion: Poly (I:C) induced maternal immune activation model creates the behavioral variation and cortical development differences that are seen in relation with symptom groups in ASD. [ABSTRACT FROM AUTHOR]

The prevalence of pyramidal cells (PCs) in the mammalian cerebral cortex underscore their value as they play a crucial role in various brain functions, ranging from cognition, sensory processing, to motor output. PC morphology significantly influences brain connectivity and plays a critical role in maintaining normal brain function. Pathological alterations to PC morphology are thought to contribute to the aetiology of neurodevelopmental disorders such as autism spectrum disorder (ASD) and schizophrenia. This review explores the relationship between abnormalities in PC morphology in key cortical areas and the clinical manifestations in schizophrenia and ASD. We focus largely on human postmortem studies and provide evidence that dendritic segment length, complexity and spine density are differentially affected in these disorders. These morphological alterations can lead to disruptions in cortical connectivity, potentially contributing to the cognitive and behavioural deficits observed in these disorders. Furthermore, we highlight the importance of investigating the functional and structural characteristics of PCs in these disorders to illuminate the underlying pathogenesis and stimulate further research in this area. [ABSTRACT FROM AUTHOR]

In this article, we present a systematic and exhaustive review regarding the trends, datasets employed, as well as findings achieved in the last 11 years in neurological disorder prediction using machine learning models. In this work we present a comparison between the biomarkers used in ML field with the biomarkers that are obtained through other non‐ml‐based research fields. This will help in identifying the potential research gaps for ML domain. As the study of neurological disorders is a far‐reaching task due to the wide variety of diseases, hence the scope of this study is restricted to the three most prevalent neurological diseases, that is, Alzheimer's, Parkinson's, and Autism Spectrum Disorder (ASD). From our analysis, it has been found that over time deep learning techniques especially Convolutional Neural Networks have proved to be beneficial for the disease prediction task. For this reason, Magnetic Resonance Imaging have been a popular modality across all three considered diseases. It is also notable that the employment of a transfer learning approach and maintenance of a global data centre helps in dealing with data scarcity problems for model training. The manuscript also discusses the potential challenges and future scope in this field. To the best of our knowledge, unlike other studies, this work attempts to put forth a conclusion of every article discussed highlighting the salient aspects of the major studies for a particular problem. [ABSTRACT FROM AUTHOR]

Purpose: The purpose of this research was to investigate the impact of dietary factors on developmental trajectories in young autistic children. Methods: A gluten-free and casein-free diets, as well as six types of food (meat and eggs, vegetables, uncooked vegetables, sweets, bread, and "white soft bread that never molds") were investigated observationally for up to three years in 5,553 children 2 to 5 years of age via parent-report measures completed within a mobile application. Children had a parent-reported diagnosis of Autism Spectrum Disorder (ASD); 78% were males; the majority of participants resided in the USA. Outcome was monitored on five orthogonal subscales: Language Comprehension, Expressive Language, Sociability, Sensory Awareness, and Health, assessed by the Autism Treatment Evaluation Checklist (ATEC) (Rimland & Edelson, 1999) and Mental Synthesis Evaluation Checklist (MSEC) (Arnold & Vyshedskiy, 2022; Braverman et al., 2018). Results: Consumption of fast-acting carbohydrates – sweets, bread, and "white soft bread that never molds" – was associated with a significant and a consistent Health subscale score decline. On the contrary, a gluten-free diet, as well as consumption of meat, eggs, and vegetables were associated with a significant and consistent improvement in the Language Comprehension score. Consumption of meat and eggs was also associated with a significant and consistent improvement in the Sensory Awareness score. Conclusion: The results of this study demonstrate a strong correlation between a diet and developmental trajectories and suggest possible dietary interventions for young autistic children. [ABSTRACT FROM AUTHOR]

Autism spectrum disorders (ASD) are neurodevelopmental disorders manifested mainly in children, with symptoms ranging from social/communication deficits and stereotypies to associated behavioral anomalies like anxiety, depression, and ADHD. While the patho-mechanism is not well understood, the role of neuroinflammation has been suggested. Nevertheless, the triggers giving rise to this neuroinflammation have not previously been explored in detail, so the present study was aimed at exploring the role of glutamate on these processes, potentially carried out through increased activity of inflammatory cells like astrocytes, and a decline in neuronal health. A novel chlorpyrifos-induced paradigm of ASD in rat pups was used for the present study. The animals were subjected to tests assessing their neonatal development and adolescent behaviors (social skills, stereotypies, sensorimotor deficits, anxiety, depression, olfactory, and pain perception). Markers for inflammation and the levels of molecules involved in glutamate excitotoxicity, and neuroinflammation were also measured. Additionally, the expression of reactive oxygen species and markers of neuronal inflammation (GFAP) and function (c-Fos) were evaluated, along with an assessment of histopathological alterations. Based on these evaluations, it was found that postnatal administration of CPF had a negative impact on neurobehavior during both the neonatal and adolescent phases, especially on developmental markers, and brought about the generation of ASD-like symptoms. This was further corroborated by elevations in the expression of glutamate and downstream calcium, as well as certain cytokines and neuroinflammatory markers, and validated through histopathological and immunohistochemical results showing a decline in neuronal health in an astrocyte-mediated cytokine-dependent fashion. Through our findings, conclusive evidence regarding the involvement of glutamate in neuroinflammatory pathways implicated in the development of ASD-like symptoms, as well as its ability to activate further downstream processes linked to neuronal damage has been obtained. The role of astrocytes and the detrimental effect on neuronal health are also concluded. The significance of our study and its findings lies in the evaluation of the involvement of chlorpyrifos-induced neurotoxicity in the development of ASD, particularly in relation to glutamatergic dysfunction and neuronal damage. [ABSTRACT FROM AUTHOR]

To study the prevalence of attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) in individuals with dystrophinopathy compared with the general population. Retrospective chart review to examine the prevalence of ADHD and ASD, diagnosed both formally and informally, in individuals with dystrophinopathy receiving care in the multidisciplinary neuromuscular clinic at the Ann and Robert H. Lurie Children's Hospital of Chicago. Our results demonstrate an ADHD prevalence of 18.40% and ASD prevalence of 12.73%, both significantly higher than those reported for the general population. Our results revealed a significant association between ADHD diagnosis and a positive family history but did not show a statistically significant association between prevalence of ADHD and the use of steroids. Based on our current study results, we plan to further evaluate the prevalence, in a prospective cross-sectional manner, using validated screens for both ADHD and ASD. [ABSTRACT FROM AUTHOR]

Employing a mixed methods approach, this study examined the knowledge and information Ontario physicians have concerning Autism Spectrum Disorder (ASD). Physicians are at the front line when it comes to identifying ASD. The Healthcare Professional Questionnaire was filled out by 46 physicians and 16 filled out the Knowledge about Childhood Autism among Health Workers Questionnaire (KCAHW) before being asked to participate in a semi-structured interview in which 7 participated. Paediatricians and psychiatrist reported having the highest levels of knowledge. Findings revealed that physicians are lacking in information regarding some early signs (i.e. social smiling = 50%), added diagnostic criteria (i.e. hypo-reactivity to sensory information = 56%), and the prevalence rate of ASD (average estimate of 1 in 1109). Additionally, exposure to individuals with ASD was found to be a facilitator to knowledge acquisition regarding ASD. The physicians recommended a road map method to disseminate information and increase knowledge and awareness. Implications of the findings include what areas of knowledge and information need to be increased, and how knowledge and competency can be increased, to better care for this population. [ABSTRACT FROM AUTHOR]

Autism spectrum disorder (ASD), a prevalent neurodevelopmental condition impacting cognitive, communicative, and behavioral aspects, typically manifests in early childhood due to genetic, environmental, and immunological factors. Employing a novel dataset termed children's ASD speech corpus (CASD-SC), the research makes use of short-time Fourier transform (STFT) layered convolutional neural networks (CNN), incorporating an image input layer and a sequence input layer. The analysis encompasses data both with and without augmentation, exploring various CNN configurations. Results showcase that the log spectrogram-based STFT layered CNN model achieves 86.6% accuracy for the raw data, while the pre-emphasis filter (PEF) with learnables-based STFT layered CNN model attains 99.1% accuracy for the data with augmentation for detecting ASD in children. This investigation bridges the literature gap by evaluating child-specific raw speech data. The study underscores the significance of processing and training efficiency in ASD diagnosis and promotes early intervention techniques by improving ASD detection in children. [ABSTRACT FROM AUTHOR]

The teaching of children with Autism spectrum disorder (ASD) in Arabic-speaking countries depends mainly on the traditional techniques which are limited and outdated. On the other hand, smartphone applications (apps) have become an essential part of the current life style. They are literally used to accomplish thousands of different tasks related to almost every possible aspect of daily life. However, the available apps related to the children with ASD in Arabic countries are extremely rare and limited in their features and services. Motivated by that, this work tries to fill the shortage in this area by presenting MOLHEM as a helping app for Arab children with ASD that comes with an interactive avatar based chatbot. The proposed system aims mainly to improve the child's different social skills in addition to enhance the linguistic and mathematical abilities. In fact, MOLHEM has a variety of interactive teaching tools including stories, music, videos, and others. Moreover, the chatbot allows the child to have real conversations in both Arabic or English languages with a chatbot represented by a cartoon character avatar. On the other hand, the parent will have the privileges to supervise the child's usage of the app, get regular performance and activity reports, in addition to control the sessions' length. In fact, MOLHEM was practically tested by a group of specialists and parents of autistics and the feedback we got was very promising. As a future work, we plan to create an IOS version, add new learning categories, allow shared playing for a group of users, and include artificial intelligence techniques. [ABSTRACT FROM AUTHOR]

The association between copper levels and autism spectrum disorder (ASD) has been a controversial topic. This study investigated relationship between copper levels and ASD. The following databases are searched until April 2022: PubMed, EMBASE and Web of Science. Combined effect size standardized mean differences (SMD) and 95% confidence intervals (95% CI) were calculated with Stata 12.0. In this meta-analysis, 29 case-control studies were included, which included 2,504 children with ASD and 2,419 healthy controls. The copper levels in hair (SMD: −1.16, 95% CI: −1.73 to −0.58) was significantly lower in ASD children than healthy controls. The copper levels in blood (SMD: 0.10, 95% CI: −0.12 to 0.32) not significantly compare ASD with controls. Copper may be associated with the development of ASD in children. [ABSTRACT FROM AUTHOR]