Autism spectrum disorders (ASDs) are neurodevelopmental conditions characterized by deficits in social relationships and communication and restrictive, repetitive behaviors and interests. ASDs form a heterogeneous group from a clinical and genetic perspective. Currently, ASDs diagnosis is based on the clinical observation of the individual's behavior. The subjective nature of behavioral diagnoses, in the context of ASDs heterogeneity, contributes to significant variation in the age at ASD diagnosis. Early detection has been proved to be critical in ASDs, as early start of appropriate therapeutic interventions greatly improve the outcome for some children. Structural magnetic resonance imaging (MRI) is widely used in the diagnostic work-up of neurodevelopmental conditions, including ASDs, mostly for brain malformations detection. Recently, the focus of brain imaging shifted towards quantitative MRI parameters, aiming to identify subtle changes that may establish early detection biomarkers. ASDs have a strong genetic component; deletions and duplications of several genomic loci have been strongly associated with ASDs risk. Consequently, a multitude of neuroimaging and genetic findings emerged in ASDs in the recent years. The association of gross or subtle changes in brain morphometry and volumes with different genetic defects has the potential to bring new insights regarding normal development and pathomechanisms of various disorders affecting the brain. Still, the clinical implications of these discoveries and the impact of genetic abnormalities on brain structure and function are unclear. Here we review the literature on brain imaging correlated with the most prevalent genomic imbalances in ASD, and discuss the potential clinical impact.

Children with high autistic traits often exhibit deficits in drawing, an important skill for social adaptability. Machine learning is a powerful technique for learning predictive models from movement data, so drawing processes and product characteristics can be objectively evaluated. This study aimed to assess the potential of evaluating shape drawing using machine learning to predict high autistic traits.

Seventy boys (5.03 ± 0.16) and 63 girls (5.06 ± 0.18) from the general population participated in the study. Participants were asked to draw shapes in the following order: equilateral triangle, inverted equilateral triangle, square, and the sun. A model for classifying participants as likely to have high autistic traits was developed using a support vector machine algorithm with a linear kernel utilizing 16 variables. A 16-inch liquid crystal display pen tablet was used to acquire data on hand-finger fine motor activity while the participants drew each shape. The X and Y coordinates of the pen tip, pen pressure, pen orientation, pen tilt, and eye movements were recorded to determine whether the participants had any problems with this skill. Eye movements were assessed using a webcam. These data and eye movements were used to identify the variables for the support vector machine model.

For each shape, a model support vector machine was created to classify the high and low autistic trait groups, with accuracy, sensitivity, and specificity all above 85%. The specificity values across all models were 100%. In the inverted equilateral triangle model, specificity, accuracy, and sensitivity values were 100%.

These results demonstrate the potential of assessing shape characteristics using machine learning to predict high levels of autistic traits. Future studies with a wider variety of shapes are warranted to establish further the potential efficacy of drawing skills for screening for autism spectrum conditions.

The Extension for Community Healthcare Outcomes (ECHO) model has been shown to increase primary care providers' (PCPs) knowledge and self-efficacy in caring for patients with autism spectrum disorder (ASD). Benefits of ECHO Autism participation may not be fully captured in studies measuring only quantitative outcomes. Qualitative methodology was used to explore the perceptions, meaning, and impact of ECHO Autism from the perspective of participating PCPs.

We used group level assessment, a large-group participatory, qualitative research method modified to a virtual format to explore the perceptions, meaning, and impact of the ECHO Autism program from the perspective of 6 participating PCPs, 1 family member, and 5 hub team members. Individual, semi-structured interviews were conducted with 4 ECHO Autism participants to further explore the identified themes.

Participants identified 6 primary themes corroborated by interview participants: (1) direct benefits to PCPs, (2) appreciation of the "all teach, all learn" approach, (3) sense of community, (4) value of the multidisciplinary conceptualization of care for children with ASD, (5) demystification of care for children with ASD, and (6) benefits to the PCPs' patients and their families. Feedback about ways to enhance the ECHO Autism program was categorized into 5 areas for improvement.

ECHO Autism builds a community for providers who may otherwise feel isolated and hesitant to manage complex needs of children with ASD. ECHO Autism is an innovative approach to build capacity for PCPs to provide high-quality evidence-based care to these children within their own communities.

Genetics is an important contributor to autism spectrum disorder (ASD). Clinical guidelines endorse genetic testing in the medical workup of ASD, particularly tests that use whole genome sequencing (WGS) technology. While the clinical utility of genetic testing in ASD is demonstrated, the breadth of impact of results can depend on the variant and/or gene being reported.

We reviewed research results returned to families enrolled in our ASD WGS study between 2012 and 2023. For significant results, we grouped the outcome of each genetic finding into three outcome categories: (1) genetic diagnosis, (2) counselling benefits and (3) support to family.

Out of 202 families who received genome sequencing results, 100 had at least one clinically relevant finding related to ASD. With detailed examples, we show that all significant results led to a genetic diagnosis and counselling benefits.

Our findings show the relevance of genome sequencing in ASD and provide illustrative examples of how the information can be used.

The Cri du Chat Syndrome (CdCS), a devastating genetic disorder caused by a deletion on chromosome 5p, faces challenges in finding effective treatments and accurate animal models. Using CRISPR-Cas9, a novel CdCS rat model with a 2q22 deletion is developed, mirroring a common genetic alteration in CdCS patients. This model exhibits pronounced deficits in social behavior, cognition, and anxiety, accompanied by neuronal abnormalities and immune dysregulation in key brain regions such as the hippocampus and medial prefrontal cortex (mPFC). The immunostaining and RNA-seq analyses provide new insights into CdCS pathogenesis, revealing inflammatory and immune processes. Importantly, it is demonstrated that early gene replacement therapy with AAV-Ctnnd2 alleviates cognitive impairments in CdCS rats, highlighting the potential for early intervention. However, the effectiveness of this therapy is confined to the early developmental stages and does not fully restore all CdCS symptoms. The findings deepen the understanding of CdCS pathogenesis and suggest promising therapeutic directions.

Feasible and accurate assessment tools developed for non-specialists are needed to scale community-based models of autism evaluation. The purpose of this study was to evaluate use of the Screening Tool for Autism in Toddlers and Young Children (STAT) when used by primary care practitioners (n = 10) across a statewide system of early diagnosis set within seven United States primary care practices. Specifically, for 130, 14- to 48-month-old children, we examined (1) agreement between STAT classification and Autism Diagnostic Observation Schedule, Second Edition (ADOS-2) outcome and expert diagnosis of autism, (2) characteristics of children with inaccurate STAT classifications, (3) consistency between STAT classification and primary care practitioner diagnosis, and (4) the relationship between STAT/primary care practitioner classification and expert diagnosis. The STAT demonstrated good concurrent validity with the ADOS-2 (77% agreement). Concordance between specialty trained primary care practitioners with expert diagnosis was 80%-87% across three age-based subgroups of children. Children misclassified by the STAT were older, had higher developmental and adaptive skills, and lower autism symptoms. Primary care practitioner diagnosis aligned with STAT categorical risk classification in 86% of cases, and 73% of consistent classifications between STAT and primary care practitioner diagnosis matched expert diagnosis. Overall, the STAT demonstrates good accuracy when used by non-specialists as part of a diagnostic evaluation.Lay summarySpecialists conduct autism evaluations using tools that are expensive and difficult to get trained on. Families often wait a long time and travel far to get a diagnosis for their child. To help with this problem, primary care practitioners can be trained to provide evaluations in local communities. However, usable and accurate tools developed for non-specialists are needed. The Screening Tool for Autism in Toddlers and Young Children (STAT) was created for this purpose, but limited research has been done on accuracy of the tool in community primary care. This study tested the STAT when used by primary care practitioners as part of a diagnostic evaluation in 130, 14- to 48-month-old children. We tested (1) STAT agreement with the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2), and diagnosis based on an expert research evaluation, and (2) the relationship between STAT classification, primary care practitioner diagnosis, and expert diagnosis. STAT classification matched the ADOS-2 in 77% of cases and expert diagnosis in 78% of cases. Autistic children incorrectly classified by the STAT were older, had higher developmental and adaptive skills, and fewer autism symptoms. In 86% of cases, the STAT classification agreed with primary care practitioner diagnosis. STAT classification, primary care practitioner diagnosis, and expert diagnosis agreed in 73% of cases. Overall, the STAT shows good accuracy when used by primary care practitioners as part of a community primary care autism evaluation.

Targeted screening of children at increased likelihood of autism is recommended. However, autism screening tools are usually validated for use mainly in low-likelihood populations. This study compared the accuracy of the Modified Checklist for Autism in Toddlers, Revised with Follow-up (M-CHAT-R/F), the ASDetect app, and the Social Attention and Communication Surveillance, Revised (SACS-R). Siblings of autistic children underwent autism screening at 12, 18 and 30 months old. At each visit, caregivers completed the M-CHAT-R/F and ASDetect while trained nurses tested the siblings using the SACS-R. At 36 to 48 months, the siblings underwent an Autism Diagnostic Observation Schedule-Second Edition (ADOS-2) assessment. 189 siblings were screened, 141 completed the study, and 32 were confirmed to have autism. Although not validated for use at 12 months, the M-CHAT-R/F had the best sensitivity among the three tools for this age group, suggesting that early signs are already apparent to caregivers. The M-CHAT-R/F had overall better sensitivity (0.72-0.83) across all age groups, but with overall lower specificity (0.55-0.77). The SACS-R and ASDetect had better positive predictive values at 18 and 30 months (0.60-0.68), while the M-CHAT-R/F was 0.43-0.48. Negative predictive values were generally high across all three tools across all age groups (0.78-0.93). Targeted screening of children at high likelihood of autism yielded a detection rate of 22.7% and should therefore be implemented routinely to facilitate early detection and intervention. The performance of autism screening tools should be examined in higher-likelihood populations for targeted screening of these children.

The aim of this study was to compare differences in cognitive, adaptive, and language function in young children referred for concerns for autism spectrum disorder (ASD) who are diagnosed with ASD vs those not diagnosed with ASD (no ASD). This prospective diagnostic study of 349 children < 6 years of age, with 250 diagnosed with ASD and 99 with no ASD, was conducted at 8 diagnostic centers. There were no differences in cognition between those diagnosed with ASD and those with no ASD. As compared to those with no ASD, children with ASD had significantly lower language and adaptive functioning. Children with no ASD had language and adaptive functioning similar to their cognitive function. Differences between developmental domains were also compared within the ASD and no ASD groups. There were no differences between any 2 areas of function in the no ASD group. However, there were significant differences within the ASD group, with cognitive function significantly higher than both language function and adaptive function. This study suggests that a discrepancy between adaptive and language skills beyond that expected based on cognitive function should heighten concern for ASD. Beyond the categorical diagnosis of ASD, it is important to assess all these developmental domains to develop comprehensive plans for interventions.

To explore the assessment practices and identification of movement difficulties in autistic children aged 12 months to 6 years by physiotherapists in Australia.

Registered physiotherapists providing services to autistic children ages 12 months - 6 years completed a survey. The survey was distributed via closed physiotherapy social media (Facebook) pages in Australia from March to June 2022. The survey included 8 items on strategies/approaches to assessment, 47 items on measurement, and 23 items on movement difficulties.

85 physiotherapists completed the survey. Findings indicated that parent reports, observations, and movement analyses were the most commonly used assessment strategies employed 100% of time, followed by musculoskeletal assessments (80%) and standardized assessments (50%). Of standardized assessments used, Alberta Infant Motor Scale (AIMS) was used most, by over 69% of physiotherapists, with multiple versions of five other standardized assessments used by over 52% of physiotherapists, namely Movement Assessment Battery for Children, Neurological Sensory Motor Developmental Assessment, Bruininks-Oseretsky Test of Motor Proficiency, Developmental Coordination Disorder Questionnaire and Test of Gross Motor Development. A range of movement difficulties were frequently identified in developmental delays (86% of time), gross motor (85%), coordination (82%), motor planning (81%), and hypotonia (80%).

Physiotherapists in Australia use a variety of methods to examine movement difficulties in young autistic children, suggesting that this frequently occurs prior to autism diagnosis.

There is a gap in autism research from Low- and Middle-Income Countries (LMIC) where most children with autism live. This has contributed to a lack of culturally validated diagnostic instruments for autism and is a major barrier to early diagnosis, intervention, and research. The Arabic Language Autism Diagnostic Inventory (ALADIN) was developed based on the DSM-5 criteria and adapted to Arabic language and culture using primary source data. The aim of this study was to validate the Arabic Language Autism Diagnostic Inventory for the diagnostic evaluation of autism. A case-control study design was used to test the instrument for sensitivity and specificity for diagnosis of autism in children 2-5 years of age. Parents of 48 children with autism and 152 neurotypical children in Jordan completed the ALADIN. Demographic information from the participants in each group was summarized, and a Receiver Operating Curve (ROC) was fit to the data. A total score of 24 on the ALADIN had 77% sensitivity and 98% specificity for autism. The area under the curve (AUC) was 0.976, indicating strong performance in identifying children with autism. The ALADIN is the first instrument created specifically for Arab populations and is informed by cultural and linguistic data from the target population. Initial validation shows it has high diagnostic specificity for autism. Culturally informed instruments can improve access to early diagnosis and intervention and enhance autism research to improve care and outcomes in global populations.

The purpose of this retrospective cohort analysis was to investigate sex differences in receipt of standard of care sleep and constipation drug treatments among autistic children and youth with sleep disorder and constipation, respectively.

We used the data from the OneFlorida + Data Trust to analyze healthcare claims for 19,877 autistic patients with sleep disorder and 32,355 patients with constipation, ages 1 to 22. We used logistic regression to examine sex differences in receiving sleep and constipation treatments, and a multivariate logistic regression model to further assess sex differences in ever receiving sleep and constipation treatments, adjusting for age, race, ethnicity, and urbanicity.

In our multivariate analysis, autistic girls with sleep disorder were 1.27 times more likely than boys to receive sleep treatment (p < 0.0001). Although autistic girls with constipation appeared to be 1.10 times more likely than boys to receive treatment, it was not significantly different after adjusting for demographic and socio-economic characteristics (p = 0.372). Older children were 1.09 times more likely than younger children to receive sleep treatment (p < 0.0001) and 1.07 times more likely to receive constipation treatment (p < 0.0001).

We did not find sex differences among autistic children for treatment of constipation, but autistic girls with sleep disorder were significantly more likely to have ever received treatment, which could indicate that girls experience more significant sleep disorders.

Autistic trans and gender diverse (TGD) individuals face unique voice and communication challenges compounded by minority stressors, impacting wellbeing and access to care. Speech pathologists are crucial in providing gender-affirming and neurodiversity-affirming support; however, guidance for working with this intersectional population remains limited. This scoping review mapped current knowledge on voice and communication challenges, identifies available supports, and demonstrates the limitations of existing guidance for speech pathologists. This review draws on 40 sources, including 29 peer-reviewed articles, 8 clinical guidelines, 2 books, and 1 position statement, identified through comprehensive searches of databases such as CINAHL, ERIC, Medline, APA PsycINFO, and grey literature in May 2024. Findings indicated that 96.8% of identified challenges pertained to communication, while fewer (3.2%) focused on voice-specific issues. Similarly, supports primarily addressed communication (91.3%), with 8.7% targeting voice needs. Communication challenges included barriers faced by autistic TGD individuals and those interacting with them, including healthcare professionals, peers, and family. Supports were identified as strategies and resources to enhance service delivery and client wellbeing, such as using visual aids or offering multiple communication options. However, significant gaps remain in addressing the unique voice and communication needs of this population, particularly regarding voice dysphoria, camouflaging versus identity disclosure, and communication within healthcare settings. Autistic TGD individuals represent a unique population whose needs are not sufficiently addressed by current guidance. This review highlights significant gaps in research and clinical practice and calls for improved clinical guidelines and specialized training for speech pathologists to enhance care.

There has been limited research on families of autistic children in Ecuador, especially in relation to their experiences of accessing a diagnosis and associated support. In this study, we surveyed 767 families about their diagnostic and post-diagnostic journeys. Of these, 651 families had children who had received a formal autism diagnosis. In this group, we found that families usually suspected that their children may be developing atypically when they were between 6 and 48 months of age; families typically consulted a professional shortly after noticing signs of atypical development (e.g. within 6 months); most children received a diagnosis before the age of 48 months; and families typically reported consulting four or more different professionals to attain a diagnosis for their children. Families' feelings and thoughts related to the diagnostic and post-diagnostic journey were often negative and were underpinned by concerns around a lack of information and services. We conclude with recommendations for optimal diagnostic and post-diagnostic support for autistic children and their families in Ecuador.Lay abstractThere has been much research about the experiences of families of autistic children as they navigate the process of accessing a diagnosis and associated support. However, most of this work has been conducted in Europe, the United States, and Australia. In this study, we examined the experiences of 767 families in Ecuador via an in-depth survey. Of the families we surveyed, 651 had children whose journeys resulted in them receiving a formal autism diagnosis. Most families realized that their children might have developmental differences when they were between the ages of 6 and 48 months, after which they tended to seek support from a professional fairly quickly (i.e. within 6 months). Most families consulted with several different professionals before they accessed a diagnosis for their children, with children tending to receive a diagnosis before the age of 48 months. Families often reported negative emotions around their children's diagnostic and post-diagnostic journeys, which were commonly related to the lack of information and services available to them. We hope that through gaining a greater understanding of the experiences of families of autistic children in Ecuador, these findings can be used to inform public policies that lead to the development of supports and services that better meet the needs of autistic people and their families in this context.

This study aims to investigate the practice patterns used by Portuguese speech-language pathologists (SLPs) with preschool-age children with pragmatic impairment and to identify the actual need(s) perceived by SLPs in this field. A total of 351 SLPs responded. The results reveal that 81.5 per cent of the respondents (n=286) reported working or had previously worked with preschool-age children with pragmatic impairment arising from autism spectrum disorder, developmental language disorder, or both. Considering the clinical practice, similarities and differences were found, many of which are due not to the inherent characteristics of each disorder but to the scarcity of research in clinical pragmatics. These results are also reflected in the needs perceived by SLPs and the degree of confidence with which they work with these children. Implications for clinical practice and directions for future research are discussed.

The pathway for post-diagnostic services for autism tends to be complex, heterogeneous, and fraught with delays. This situation has repercussions for families' experience with care systems, the quality of early interventions, and family adjustment. To date, studies of parents' point of view on autism services have predominantly focused on the diagnostic phase of the services trajectory. The goal of the present study was to investigate the perspective of parents on autism early childhood services within a public healthcare and social services system in a Canadian province (Québec). Participants were 91 parents who completed a structured framework for the evaluation of the quality of services trajectories, the Evaluation of the services Trajectory in Autism by Parents (ETAP; Mello et al., in Research in Developmental Disabilities 133, 2023). Approximately three-quarters of families received interim services (e.g., punctual speech therapy interventions) for which they had overall neutral-to-positive appraisals but viewed as having comparably low validity and continuity. Although all children diagnosed with autism are entitled to receive early behavioral intervention (EBI) dispensed by the public health and social services system, approximately a quarter of families did not receive this service. Families who received EBI evaluated this service positively on all ETAP dimensions. The empathy (i.e., parent-provider relationships) dimension was rated highest for both interim and EBI services. Some systemic, family, and child-related factors were associated with the perceived quality of services for both interim and early childhood services. Our results emphasize the need for services for children and families as soon as possible, both during assessment and after diagnosis.

Genetic tests, such as Fragile X and Chromosomal Microarray, are recommended as a standard of care during the evaluation of autism spectrum disorder (ASD) and other neurodevelopmental disorders. However, previous research demonstrates low rates of genetic testing. This study aimed to identify the rates of genetic testing and patient demographic factors that may be associated by conducting a retrospective chart review of 7539 electronic health records of patients who were evaluated for ASD or other neurodevelopmental disorders within a university healthcare network. Researchers created a database that listed patient demographics (race, gender, insurance, zip code), records of ordered but not completed tests, genetic test results and reasons for declining genetic tests (if noted), and other known barriers to genetic testing. Statistical analyses were conducted to determine associations between genetic testing rates and sociodemographic factors. 30.57% of patients received at least one indicated genetic test, while 11.31% received recommended concordant genetic testing. Findings suggest that while gender did not impact whether a patient received at least one genetic test, race and insurance did. Our review demonstrates that genetic testing is not sufficiently offered by physicians, and there are multiple barriers preventing patients from receiving genetic testing, which must be further investigated.Lay abstractGenetic testing is recommended by various professional organizations as part of clinical guidelines during the evaluation of autism spectrum disorder (ASD) and other neurodevelopmental disorders. However, previous studies demonstrate that rates of genetic testing are low. This study aimed to identify the rates of genetic testing within a large university healthcare network and factors that may be associated with higher or lower rates. Researchers reviewed over 7500 electronic health records of patients who were evaluated for ASD or other neurodevelopmental disorders. Some factors that were recorded include patient demographics (race, gender, insurance, zip code), ordered but not completed tests, genetic test results and reasons for declining genetic tests if noted, and other known barriers to genetic testing such as blood draws and specialties of providers seen by patients. Statistical analysis was conducted to determine associations between rates of genetic testing and different factors recorded in our database. Our results demonstrate that less than half of patients received at least one indicated genetic test, while a smaller percentage received recommended genetic tests. While sex assigned at birth and gender did not impact whether a patient received at least one indicated genetic test, race and insurance did. Our review reveals that genetic testing is not sufficiently offered by physicians, and we have identified multiple obstacles that prevent patients from receiving genetic testing which must be further investigated.

A high-quality primary care clinic should provide clear action points and important care coordination for a child receiving a new diagnosis of autism spectrum disorder (ASD). Unfortunately, a substantial proportion of caregivers report little-to-no post-diagnosis support from their home clinics and primary care providers often report lack of training and resources in providing these supports.

We implemented an intervention package to investigate the impact on the frequency and quality of follow-up care for children with ASD in a busy, high-volume resident continuity clinic. The package consisted of a care coordination scheduling pathway and a standardized clinical template-embedded in the electronic health record (EHR)-that guided providers through best-practice recommendations and patient resources.

As a result of these interventions, 74% of patients had ASD-specific follow-up, a more than threefold increase from baseline with a majority of providers using the EHR-embedded template to guide their visit. Providers also indicated a high degree of usability for the system and that it aided them in following best-practice guidelines for ASD care.

Through explicit scheduling pathways and a novel EHR template, we saw a significant increase in ASD-specific follow-up visits and implementation of best practices for ASD care, demonstrating a new process for training and engaging primary care providers in clear action steps for post-diagnostic care without having to rely on tertiary referrals.

To examine the Modified Checklist for Autism in Toddlers, Revised, with Follow-Up (M-CHAT-R/F), with follow-up screening and diagnostic outcomes for children born preterm. A secondary aim was to examine diagnostic evaluation attendance after screening to inform clinical practice.

Using a cross-sectional design, 9725 toddlers (4951 males; 4774 females) whose gestational age was reported were screened at 15-month, 18-month, or 24-month well-child visits; screen-positive children were invited for an autism evaluation. Screening measure performance and diagnostic outcomes were evaluated according to preterm classification (Screening: nExtPreterm = 111; nVeryPreterm = 186; nModPreterm = 1122; nFullTerm = 8306; Evaluation: nExtPreterm = 27; nVeryPreterm = 21; nModPreterm = 86; nFullTerm = 301).

Screen-positive rates were highest for children born extremely preterm (51.35%) and lowest for children born at term (6.95%). Evaluation attendance for screen-positive cases did not differ according to preterm classification. Rates of autism diagnoses differed depending on preterm birth status: for children born extremely preterm, it was 16.05%; for children born very preterm, it was 2.00%; for children born moderately preterm, it was 2.89%; and for children born at term, it was 1.49%. M-CHAT-R/F sensitivity decreased with increasing gestational age, whereas specificity improved with increasing gestational age. Positive predictive value was highest for children born extremely preterm and children born at term. Negative predictive value was consistently strong across all groups. The likelihood ratio for positive screening increased with gestational age.

The sensitivity and specificity of the M-CHAT-R/F are acceptable in toddlers born preterm. Autism screening-positive rates and prevalence increased with earlier preterm birth. Those born extremely preterm showed the greatest likelihood of an autism diagnosis; screening should not be delayed based on adjusted age.

A systematic screening program for detecting autism at 18 months was progressively implemented in Oman since 2017. The primary objective of this study was to examine whether systematic use of M-CHAT-R/F screening is associated with lowering the age at ASD diagnosis, controlling for other predictors of age at ASD diagnosis. The study is based on a cross-sectional retrospective review of data extracted from electronic records of 756 children diagnosed with ASD between 1st January 2017 and 30th June 2023. Descriptive statistics and multiple linear regression models were used for data analysis. Of 756 children (mean age: 7.3 years, age range: 1.8-14 years; 77.5% males) included in this study, 98 (13%) underwent M-CHAT-R/F screening. The average age at ASD diagnosis was 60.7 months (95% CI: 58.8, 62.7 months). A significantly lower age at ASD diagnosis was observed among children who underwent M-CHAT-R/F screening compared to those who did not (39.4 vs. 63.8 months; p < 0.001). Multiple regression analysis indicates that children who were screened with M-CHAT-R/F received a diagnosis of ASD at an average age 20% earlier than children who were not screened with M-CHAT-R/F (adjOR = 0.80; 95% CI: 0.73, 0.88, p < 0.001). The population-based M-CHAT-R/F screening program appears to have reduced the average age of diagnosis of ASD among children. The findings may translate into earlier access to intervention and possibly improved long-term outcomes for children with ASD.

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by social impairments, sensory processing issues, repetitive behavior patterns, motor abnormalities, and executive function impairments.

To systematically review and meta-analyze the effects of various exercise modalities on flexibility and cognitive control, social skills, behavioral problems, motor skills, and coordination in children with ASD, providing scientific evidence for clinical practice to guide effective exercise interventions for children with ASD.

Literature searches were conducted in PubMed, EMbase, Cochrane Library, EBSCOhost, and Web of Science databases, covering the period from database inception to February 15, 2024. Inclusion criteria included studies involving children with ASD, any form of exercise intervention, reporting at least one ASD-related outcome, and designed as randomized controlled trials (RCTs) or quasi-experimental studies. Exclusion criteria included reviews, conference abstracts, commentary articles, and studies lacking sufficient statistical data for meta-analysis. Study quality was assessed using the PEDro scale. Effect sizes were calculated using standardized mean differences (SMD). Heterogeneity was assessed with the I 2 statistic. Multiple subgroup analyses were conducted, and publication bias was evaluated using Begg's Test and Egger's Test.

23 RCTs were included in this study, showing positive effects of exercise interventions in various domains.Upper grade students showed significant improvement in flexibility and cognitive control (SMD = -0.282, p = 0.161). Lower grade children showed the most significant improvement in motor skills and coordination (SMD = 0.475, p = 0.043). Preschool children showed significant enhancement in social skills (SMD = 0.312, p = 0.041). Behavioral problems improved significantly across all age groups (SMD = -0.674, p < 0.001). Martial arts and ball games were particularly effective in enhancing these domains, and appropriate periodic exercise interventions effectively improved various abilities in children with ASD. Results varied across different ages and intervention types.

Exercise interventions significantly improve flexibility, cognitive control, motor skills, coordination, social skills, and behavioral problems in children with ASD. This study supports exercise interventions as an effective method to enhance multiple abilities in children with ASD and emphasizes the importance of designing personalized intervention programs tailored to different ages and needs. Future research should focus on larger sample sizes and long-term follow-ups to confirm the sustainability and generalizability of intervention effects.

The primary goal of our study is to assess the national US prevalence of autism spectrum disorder (ASD), along with its socio-demographic characteristics, severity, and co-occurring medical and psychiatric disorders, using data from the 2020-2021 National Survey of Children's Health (NSCH).

We analyzed 2020-2021 NSCH data to estimate the prevalence of ever-diagnosed and current ASD among 79,182 children and adolescents (3-17 years). Univariate and multivariate regression models were used to examine associations between medical and psychiatric co-morbidities, socio-demographic factors, and ASD severity.

Adolescents (11-17 years) and males were more likely to have ASD, with males comprising 78.7% of the ASD group. The mean age of the sample was 10.1 ± 4.6 years, and 3.2% had an ASD diagnosis. Children from lower-income households and those with caregivers who completed only a high school education were more likely to have ASD. Nearly 96.4% of children with ASD had at least one co-morbid condition. The most common neuropsychiatric co-morbidities were developmental delay (64%), behavioral and conduct problems (57.8%), and anxiety disorder (45.7%), while the most common medical conditions were allergies (32.4%), genetic disorders (26.2%), and asthma (12.6%). Gender disparities in ASD presentation were evident that females with ASD were more likely to experience vision problems, cerebral palsy, epilepsy, depression, and intellectual disability but had lower odds of ADHD and anxiety problems. Greater ASD severity was linked to higher odds of intellectual disability (OR: 5.8, p < 0.001), developmental delay (OR: 5.0, p < 0.001), epilepsy, Down syndrome (OR: 3.4, p < 0.001), vision problems (OR: 2.5, p < 0.001), and genetic disorders (OR: 2.3, p < 0.001).

This study provides updated prevalence estimates of ASD and highlights the high burden of co-morbidities, emphasizing the need for comprehensive, multidisciplinary approaches in ASD management. Additionally, our findings emphasize gender differences in ASD presentation, which should be considered in future research and clinical practice to ensure more tailored diagnostic and intervention strategies.

Autism spectrum disorder (ASD) refers to a group of complex neurodevelopmental disorders and is characterized by impaired reciprocal social interaction and communication, as well as the presence of restricted interests and stereotyped and repetitive behaviors. As a complex neurodevelopmental disorder, the phenotype and severity of autism are extremely heterogeneous, with differences from one patient to another. Chromosome microarray (CMA) and fragile X syndrome analyses has been used as a powerful tool to identify new candidate genes for ASD.

In the present study, CMA was first used to scan for genome-wide copy number variants in the patient, and no clinically significant copy number variants were found. Exome sequencing (ES) was used for further genetic testing.

ES was performed on 20 subjects. Eighty percent of our sample presented intellectual disability. Other co-occurring clinical conditions included speech disorders, psychomotor delay, the presence of dysmorphic features and medical co-morbidities. A pathogenic variant was identified in 10 patients (ADNP, FBN1, WAC, ASXL3, NR4A2, ALX4, ANKRD1, POGZ, SHANK3 and BPTF). Patients with a positive finding in ES were more likely to present a dysmorphic trunk, more than three dysmorphic features, hypotonia, psychomotor delay and strabismus.

ES offers expanded diagnostic options for patients with ASD who are negative on CMA. However, further studies are needed for a better understanding of ASD etiology and also the different phenotypes.

To report results of the Parent's Observations of Social Interactions (POSI) and identify associations between POSI results with referrals for developmental evaluations and autism diagnoses.

We examined data from electronic health records of POSI-screened children attending 18- and 24-month health supervision visits from July 2018 to July 2022 for POSI screening results and autism diagnoses. Descriptive statistics and regression models were used for analysis.

In 6669 POSI-screened children (age at follow-up, 42-107 months), 1065 of 4228 children screened at 18 months (25.2%) and 851 of 4896 children at 24 months (17.4%) screened positive. In 1079 children with positive POSI screenings, 233 children (21%) were referred for developmental evaluation. Autism was diagnosed in 184 of all 6669 children (2.8%). The POSI sensitivity for autism was 66.4% (95% CI 59.2-72.8%) and the positive predictive value was 9.2% (95% CI 7.4-10.6%). A positive POSI increased the likelihood of autism diagnosis at 18 months (adjusted odds ratio, 5.21; 95% CI 3.45-7.86) and 24 months (adjusted odds ratio 10.21; 95% CI 7.07-14.76). Autism was diagnosed 13 months earlier in children with a positive rather than negative POSI (35.5 vs 48.1 months; P < 0.001).

The POSI is a sensitive screening instrument for autism with a low positive predictive value (high percentage of false positive screenings), indicating the need for clarification about which children require further evaluation. Screening positive on the POSI was associated with a greater likelihood and earlier diagnosis of children with autism.

Objective: To explore recent findings on how nutritional, gastrointestinal, social, and epigenetic factors interact in autism spectrum disorder, highlighting their implications for clinical management and intervention strategies that could improve development and quality of life of affected children. Sources: Studies published from 2000 to 2024 in the PubMed, Web of Science, Scopus, Scielo, Lilacs, and Google Scholar databases were collected. The process for the review adhered to the Search, Appraisal, Synthesis, and Analysis framework. Summary of the findings: Children with autism spectrum disorder have restrictive eating habits and often exhibit food selectivity with either hyper- or hypo-sensory characteristics. This review provides an overview of the literature on diagnosis and intervention strategies for selectivity in autism spectrum disorder, including the involvement of family members in meals, sharing a healthy diet and positive relationship with food, and the importance of exploring visual, olfactory, and tactile experiences of food and introducing new foods through play activities to expand the food repertoire. Modifications in the microbiota and gastrointestinal disorders may also be present in autism spectrum disorder and are presented due to their frequent nutritional repercussions. The medium and long-term implications of food preferences and behavior issues for nutritional status are also discussed, given the tendency for children with autism spectrum disorder to consume low-quality and energy-dense foods, leading to nutritional problems. Conclusions: Children with autism spectrum disorder have feeding difficulties, especially selectivity, gastrointestinal problems, changes in the microbiota and can evolve with micronutrient deficiencies, malnutrition and obesity. This review describes the evidence for possible targets for interventions aiming to improve nutritional health for children with autism spectrum disorder.

This study aimed to evaluate a clinical project aiming to address gaps in healthcare for young children in an immigrant, low-resource district from early identification of regulatory problems, autism, and other neurodevelopmental symptoms by child health services to assessment and interventions in specialist care.

A mixed-model design was employed, consisting of a description of the clinical project and data from healthcare statistics to evaluating the care chain. Qualitative in-depth interviews were conducted to capture the perspectives of participating child health nurses. Data were analyzed using content analysis.

The mean age for referral from primary to specialist care for suspected autism decreased from 38 to 27 months at (n = 59). A total of 55 children were diagnosed with autism. The mean age at autism diagnosis decreased from 44 to 31 months. Waiting times from referral to intervention were shortened. Interventions were already initiated in primary care at the time of referral. Qualitative analyses of nurse experiences revealed three main categories: (1) new and increased knowledge, (2) great importance for every child and family, and (3) an efficient method with fewer gaps, which holds further potential for development.

Professionals' increased knowledge of early symptoms in children, combined with novel healthcare methods for close collaboration, made it possible to bridge the gaps and provide young children and their families with early assessments and essential early interventions. The study results point to opportunities for integrated healthcare and collaboration with families and preschools.

Motor behavior alterations are common in neurodevelopmental disorders (NDDs), including autism, developmental coordination disorder (DCD), and attention deficit hyperactivity disorder (ADHD), but the extent of motor impairment remains unclear. In autism and ADHD, motor difficulties may be linked to co-occurring DCD, which often goes unrecognized. We aimed to map the prevalence of DCD in autism and ADHD, and to explore motor skill difficulties using the Movement Assessment Battery for Children-2 (MABC-2), by comparing children with typical motor development (TMD) with those who have NDDs, and by identifying specific profiles among NDDs. A combined sample of participants (n = 215), including autistic children with(out) intellectual disability (ID) and children with ADHD, DCD, and TMD, performed the MABC-2. Depending on co-occurring DCD/ID, subgroups were composed: autism-only (n = 17), autism + ID (n = 17), autism + DCD (n = 40), ADHD-only (n = 14), ADHD + DCD (n = 12), DCD (n = 25), and TMD (n = 59). MABC-2 differences between TMD/NDDs (Mann-Whitney U test) and among NDDs (Kruskal-Wallis test) were assessed. DCD occurred in 70.2% of the autistic children without ID and in 46.2% of those with ADHD. Children with NDDs performed significantly worse than the TMD (p < 0.001). Manual dexterity skills, aiming and catching, and balance were significantly different across the NDD subgroups (p ≤ 0.001). Particularly children with ( +)DCD and autism + ID performed worse on manual dexterity skills. Children with ( +)DCD were outperformed on aiming and catching. All subgroups, except the ADHD-only group, performed poorly on balance.

Distinct motor difficulties were identified across various NDDs. Children with co-occurring ID or DCD exhibit unique challenges, stressing the importance of motor profile subgrouping.

• Despite the common occurrence of motor behavior in neurodevelopmental disorders, the extent of motor impairment remains unclear. • Motor difficulties in autism and ADHD may be linked to co-occurring DCD, which often goes unrecognized.

• DCD occurred in 70% of the autistic children without ID and in 46% of those with ADHD. • Children with co-occurring ID or DCD exhibit unique challenges, stressing the importance of motor profile subgrouping.

Language difficulties are common in autism spectrum disorder (ASD), a neurodevelopmental condition characterized by impairments in social communication as well as restricted and repetitive behaviors. Amongst infant siblings of children with an ASD diagnosis - who are at higher likelihood for developing ASD - a high proportion also show difficulties and delays in language acquisition.

In this study, we used functional magnetic resonance imaging (fMRI) to examine differences in language processing in 9-month-old infants at high (HL) and typical (TL) familial likelihood for ASD. Infants were presented with native (English) and novel (Japanese) speech while sleeping naturally in the scanner. Whole-brain and a priori region-of-interest analyses were conducted to evaluate neural differences in language processing based on likelihood group and language condition.

HL infants showed attenuated responses to speech in general, particularly in left temporal language areas, as well as a lack of neural discrimination between the native and novel languages compared to the TL group. Importantly, we also demonstrate that HL infants show distinctly atypical patterns of lateralization for speech processing, particularly during native speech processing, suggesting a failure to left-lateralize.

The sample size, particularly for the TL group, is relatively modest because of the challenges inherent to collecting auditory stimulus-evoked data from sleeping participants, as well as retention and follow-up difficulties posed by the COVID-19 pandemic. The groups were not matched on some demographic variables, but the present findings held even after accounting for these differences.

To our knowledge, this is the first fMRI study to directly measure autism-associated atypicalities in native language uptake during infancy. These findings provide a better understanding of the neurodevelopmental underpinnings of language delay in ASD, which is a prerequisite step for developing earlier and more effective interventions for autistic children and HL siblings who experience language impairments.

This study aimed to identify the chromosomal anomalies and copy number variations (CNVs) in autism spectrum disorder (ASD) and to provide genotype/phenotype correlations. Fifty-four patients diagnosed with ASD between March 2021 and June 2022 were included in the study. Patients were evaluated by cytogenetic analysis and array comparative genomic hybridisation analysis (aCGH). The structural and numerical chromosomal anomaly was detected in 3.7%, and the CNVs were identified in 18.52% of patients. Of the CNVs detected, 27.3% were identified as pathogenic, 18.2% as likely pathogenic and 54.5% as VUS. The copy number gain rate of the detected CNVs was higher than the copy number losses rate, 70% and 30% respectively. As an important finding in the study, a new pathogenic CNV with a 6.3-mb copy number gain in the 3p22.3p22.2 region, whose gene region had not been previously defined in OMIM, was detected. Identifying a genetic aetiology may provide clinicians with more information about disease prognosis and risk of recurrence.

The aim of this research was to study the effect of a horseback-riding programme on postural control in a group of autistic children (ASD). Nine children aged 9 to 12 years participated in this study through a multiple baseline across subjects design. The whole programme took place over nine months. Participants followed a previously developed specific horseback-riding programme, consisting of 45-minute sessions held twice a week for at least three months. To evaluate postural control, the average velocity of the centre of pressure displacement was measured by means of a posturographic platform. Results indicated that this intervention with horses had a positive effect on the postural control in children with ASDs.

Evidence suggests that assistance and therapy dogs can positively impact the mental and physical health of children with autism spectrum condition (ASC) and their families. However, these services are often costly and inaccessible. As an alternative, companion dogs (e.g., non-specialist-trained pet dogs) may offer similar benefits. To support families in selecting and training a dog to benefit the whole family, a charity named Dogs for Good has designed the Family Dog Service. This qualitative study aimed to explore the perceived impact of human-dog interactions and relationships for children with ASC and their families, and their perceptions of the Family Dog Service. Interviews were conducted with 16 parents of children with ASC who had engaged with the service within the last five years. Thematic analysis identified four main themes. These related to the positive impact of the companion dog on the child with ASC (e.g., enhanced focus and attention, reduction in loneliness, and reduced anxiety-based behaviours) and the parents (e.g., increased respite and wellbeing). However, parents also reported challenges of dog ownership (e.g., adjustment to routines and barriers associated with the development of the human-dog relationship). These challenges appeared to be mitigated by tailored guidance and support from the Family Dog Service. The findings indicate that companion dog ownership provided benefits to children with ASC and their families, similar to those reported for autism assistance dogs. While the findings do not suggest that companion dogs can replace the important role played by specialist trained assistance dogs, it is possible that reported benefits may occur due to the development of the human-dog relationship, facilitated by the support offered by the Family Dog Service. The service may provide a practical, valuable alternative in light of restrictions and challenges often associated with securing assistance dog placements.

Acetaminophen is a common over-the-counter medication that recently gained substantial media attention regarding its use by pregnant individuals. In this clinical perspective, we discuss the strengths and limitations of the published literature on the effect of maternal acetaminophen use in pregnancy on the child's risk of developing attention-deficit and hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). Studies included were specifically selected on the basis of the quality and validity of ADHD or ASD outcome definitions. From a total of 56 identified studies, commentaries, and editorials of relevance, we critically reviewed nine studies with original data that satisfied our inclusion criteria and three meta-analyses. Most studies that have reported positive findings are difficult to interpret because they have important biases, notably a high degree of selection bias, variability in selection and adjustment for various potential confounders, and unmeasured familial confounding. When unobserved familial confounding through sibling analysis was controlled for, associations weakened substantially. This suggests that residual confounding from shared genetic and environmental factors may have caused an upward bias in the original observations. According to the current scientific evidence, in utero exposure to acetaminophen is unlikely to confer a clinically important increased risk of childhood ADHD or ASD. The current level of evidence does not warrant changes to clinical guidelines on the treatment of fever or pain in pregnancy. Prospective research designed to account for familial and psychosocial environmental factors related to both maternal use of acetaminophen and children's neurodevelopment should be undertaken.

Black families of children with autism spectrum disorder have less access to high quality, culturally responsive care for their children.

We assessed satisfaction and service utilization among fifty (29%) Black caregivers and 124 (71%) White caregivers of children with autism spectrum disorder. We also examined whether race moderated the association between satisfaction and service utilization.

We did not identify racial differences in satisfaction or service utilization. Race moderated the association between satisfaction and total service use, F(170) = 5.29, p =.02, therapy service use, F(163) = 3.59, p =.046, and community service use, F(169) = 4.76, p =.046. For Black families, there was a positive association between satisfaction and service use. There was no association between satisfaction and service use among White families.

Satisfaction may be particularly important among Black families, who have been mistreated by the healthcare system and frequently face discrimination. Our results suggest the importance of culturally responsive care for Black families.

This scoping review examined current evidence on medical home care and its association with educational services for children and youth on the autism spectrum. We searched five databases and grey literature resulting in 328 publications. Publications meeting inclusion criteria were mapped to medical home care component(s) addressed, type(s) of educational services and their strength and type of association. The Andersen Behavioral Model of Health Services Use was used to summarize predisposing, enabling, and need factors considered. Eighteen publications were reviewed, including eight practice/policy reports and ten original research publications. Medical home care components most addressed included family-centered care (n = 10), referrals (n = 16), and effective care coordination (n = 13). Seven publications also addressed multiple educational service types. Two of the five publications that established a significant association between medical home care components and educational services had mixed results, with one publication reporting a negative association and the other publication reporting a positive association. Challenges to medical home care and educational services were most categorized as enabling factors. Results suggest three areas for further investigation: (1) limited evidence on the strength and type of association between medical home care components and educational services; (2) limited use of population data sources; and (3) the need to consider a broader range of factors when examining their association.

Electroencephalogram (EEG) abnormalities could be seen in up to 60% of non-epileptic children with autism spectrum disorder (ASD). They have been used as biomarkers of ASD severity. The objective of our study is to identify EEG abnormalities in children with different degrees of ASD severity based on the Autism Treatment Evaluation Checklist (ATEC). We also want to assess the quality of life for children with ASD. All of the children underwent at least one hour of sleep-deprived EEG. Forty-five children were enrolled, of whom 42 were male. EEG abnormalities were found in 10 (22.2%) children, predominantly in the bilateral frontal areas. There were no differences in EEG findings among the mild, moderate, and severe ASD groups. The severity of ASD was associated with female sex (p-value = 0.013), ASD with attention deficit hyperactivity disorder (ADHD) (p-value = 0.032), ASD children taking medications (p-value = 0.048), and a lower Pediatric Quality of Life Inventory (PedsQL) (p-value <0.001). Social and emotional domains were the most problematic for health-related quality of life in ASD children, according to parent reports of PedsQL. Further studies with a larger sample size will help to clarify the potential associations between EEG abnormalities and the severity of ASD, as well as the impact on quality of life.

Family intervention is a crucial component of treatment for children with autism spectrum disorder (ASD), yet the impact of parent-mediated family-intensive behavioral intervention on the language abilities of children with ASD has been barely studied. The purpose is to investigate the effectiveness of the Verbal Behavior Milestones Assessment and Placement Program (VB-MAPP)-based family-intensive behavioral intervention in enhancing the language abilities of children with ASD. This study provides insights to help ASD children better cope with daily life.

From September 2020 to September 2022, a total of 85 clinically diagnosed children with ASD and 30 age- and sex-matched children without ASD were recruited. Applied Behavior Analysis (ABA) and VB-MAPP were used for evaluating and determining individualized intervention programs for children with ASD. The intervention lasted 6 months.

There were no significant differences in demographic characteristics between children with ASD and children without ASD (all p > 0.05), except for the mother's age. After the intervention, there was a significant increase in all VB-MAPP scores among children with ASD (all p < 0.001), compared with the baseline VB-MAPP total score and 16 domain scores. Tests of noninferiority showed that children with ASD at post-intervention were non-inferior to children without ASD in the Visual Perceptual Skills and Matching-to-Sample (VP/MTS) score (p = 0.001), play score (p = 0.034), reading score (p < 0.001), and writing score (p < 0.001).

Family-intensive behavioral intervention significantly improved the skills of children with ASD, as assessed by the VB-MAPP. These findings emphasize the importance of family intervention and provide further support for proposing a family intervention program for children with ASD that is suitable for China's national conditions.

Currently available systematic reviews on the pharmacological treatment of autism spectrum disorder (ASD) do not encompass all the evidence, as they exclude guidelines issued by national or local authorities that are not indexed in search engines such as PubMed.A systematic literature search was conducted to identify clinical guidelines on this topic using EMBASE, Medline, and PsycINFO. A manual search was also performed to identify guidelines by national or local authorities not included in the aforementioned databases.Thirty-eight guidelines were identified through manual search, including 27 items through search engines, 2 general guidelines, and 9 government agency guidelines. Many guidelines recommended risperidone (N=16) for the characteristic behaviors of ASD core features. For attention-deficit/hyperactivity disorder (ADHD) features, methylphenidate was most frequently recommended (N=23) for both inattention (N=6) and hyperactivity/impulsivity (N=16). Risperidone was also frequently recommended for maladaptive behaviors (N=33).A comprehensive literature search identified treatment guidelines for ASD issued by local or national administrative bodies that were not captured through search engines alone. There was some consensus among the guidelines on the use of psychotropics in alleviating specific features of ASD. However, physicians need to be aware of the lack of high-quality evidence supporting these recommendations.

Background/Objectives: Aggression is a major challenge for children with autism spectrum disorder (ASD), their family members, friends, and teachers because it can pose a threat or harm not only to the children with ASD but also to others. This study is a case study aimed at verifying the effectiveness of a virtual reality-based aggression control program for children with ASD. Methods: The participants were two children (one was a 10-year-old boy and the other was a 6-year-old girl) who participated in the ACAA (Aggression Replacement Training for Children and Adolescents with ASD) Program for eight sessions over three weeks. Results: The frequency (C1: 48 → 3; C2: 32 → 3) and severity of aggressive behaviors in both participants decreased after the intervention compared to before. Additionally, overall problematic behaviors were also reduced after the intervention (C1: 85 → 70; C2: 87 → 64). Furthermore, both participants demonstrated a slight increase in their levels of adaptation (C1: 17 → 20; C2: 16 → 18). Conclusions: The effectiveness of the ACAA program has been demonstrated in reducing levels of aggression in children with ASD. Therefore, the ACAA program may contribute to helping aggressive children with ASD live in harmony with others in society and promote independence.

Arts therapies (ATs) for the treatment of autism spectrum disorders (ASD) has attracted widespread attention from scholars. However, resources, technical, and ethical issues still pose significant obstacles to current research. A collaborative design approach is needed to guide the intervention treatment process involving multiple stakeholders. Therefore, this study focuses on exploring the current status, development and potential value of the collaborative arts therapies (CATs), providing a comprehensive perspective for subsequent research.

The Web of Science, PubMed, ScienceDirect, and Cochrane Library were searched for publications up to August 30, 2023, related to the use of CATs for the treatment of ASD. CiteSpace was used to build a knowledge graph to achieve visual analysis of current research countries, institutions, journals, authors, and hot topics.

A total of 845 articles met the inclusion criteria. In terms of quantity, the USA is the leading country which has the greatest influence in advancing the field. The University of Haifa is the most productive institution. Arteterapia Papeles De Arteterapia Y Educacion Artistica and Frontiers in Psychology occupy key publishing positions. The most central keywords were related to the quality of life of people with ASD. "family", "social robot" and "participation" are emerging topics in the research field. The positive impact of the combination of caregivers, technology and artistic media on enhancing connections between people with ASD and their everyday environment is the focus of current research.

Research on CATs as an adjunctive therapy for the treatment of ASD is evolving. Providing comprehensive rehabilitation and support intervention for patients with ASD is a key research direction. The research process requires more interdisciplinary resources and technical assistance. Collaboration will be the best way to improve the effectiveness of ATs.

To understand the neural mechanism of autism spectrum disorder (ASD) and developmental delay/intellectual disability (DD/ID) that can be associated with ASD, it is important to investigate individuals at an early stage with brain, behavioural and also genetic measures, but such research is still lacking. Here, using the cross-sectional sMRI data of 1030 children under 8 years old, we employed developmental normative models to investigate the atypical development of gray matter volume (GMV) asymmetry in individuals with ASD without DD/ID, ASD with DD/ID and individuals with only DD/ID, and their associations with behavioral and clinical measures and transcription profiles. By extracting the individual deviations of patients from the typical controls with normative models, we found a commonly abnormal pattern of GMV asymmetry across all ASD children: more rightward laterality in the inferior parietal lobe and precentral gyrus, and higher individual variability in the temporal pole. Specifically, ASD with DD/ID children showed a severer and more extensive abnormal pattern in GMV asymmetry deviation values, which was linked with both ASD symptoms and verbal IQ. The abnormal pattern of ASD without DD/ID children showed higher and more extensive individual variability, which was linked with ASD symptoms only. DD/ID children showed no significant differences from healthy population in asymmetry. Lastly, the GMV laterality patterns of all patient groups were significantly associated with both shared and unique gene expression profiles. Our findings provide evidence for rightward GMV asymmetry of some cortical regions in young ASD children (1-7 years) in a large sample (1030 cases), show that these asymmetries are related to ASD symptoms, and identify genes that are significantly associated with these differences.

Physical activity (PA) interventions have been shown to yield positive effects on cognitive functions. However, it is unclear which type of PA intervention is the most effective in children and adolescents with Neurodevelopmental Disorders (NDDs). This study aimed to compare the effectiveness of different types of PA interventions on cognitive functions in children and adolescents with NDDs, with additional analyses examining intervention effects across specific NDD types including attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD).

In this systematic review and network meta-analysis, seven databases (Web of Science, PubMed, Medline, APA PsycINFO, Embase, CINAHL, and SPORTDiscus) for randomized controlled trials from database inception to September 2023 were searched. Randomized controlled trials comparing the effectiveness of PA intervention with any non-pharmacological treatment or control group on cognitive functions in children and adolescents diagnosed with NDDs aged 5-17 years were included. Frequentist network meta-analyses were performed based on standardized mean differences (SMD) using random effects models to examine post-intervention differences in cognitive functions, including attention, memory, and executive functions. Intervention dropout was assessed as a measure of treatment acceptability.

Thirty-one randomized controlled trials (n = 1,403, mean age 10.0 ± 1.9 years) with 66 arms were included in the network. Mind-body exercise (MBE; SMD = 1.91 for attention; 0.92 for executive functions), exergaming (SMD = 1.58 for attention; 0.97 for memory; 0.94 for executive functions), and multi-component physical activity (MPA; SMD = 0.79 for executive functions) were associated with moderate to substantial cognitive improvements compared with usual care, whereas the effectiveness of aerobic exercise (AE) was non-significant. Exergaming (SMD = 0.78, 95%CI 0.12 to 1.45) and MPA (SMD = 0.64, 95%CI 0.11 to 1.18) were more effective than AE for executive functions. When analyzing specific NDD types, exergaming lost its superiority over usual care for attention and memory in ADHD, nor for executive functions in ASD. Instead, MPA demonstrated significant benefits across these domains and populations. The certainty of evidence for these comparisons was very low to low. No significant differences in acceptability were observed among MBE, exergaming, and MPA.

The findings in this study suggest that MBE, exergaming, and MPA were effective interventions for improving domain-specific cognitive functions in children and adolescents with NDDs. AE demonstrated non-significant effectiveness for all outcomes. MBE emerges as particularly advantageous for attention. MPA yielded consistent improvements in memory and executive functions across NDD types. Further high-quality randomized controlled trials of direct comparisons are needed to confirm and expand on the findings from this NMA.

PROSPERO CRD42023409606.

1) To identify outcome measures used in support programs designed to enhance functioning in autistic children and adolescents, and 2) To map the content of these measures to the domains of the International Classification of Functioning, Disability and Health (ICF).

A systematic review was conducted. Searches were performed in Medline/PubMed, EMBASE and Virtual Health Library databases, with no restrictions imposed regarding language or year of publication. Studies that used outcome measures to assess functioning and/or disability in autistic individuals up to 18 years of age were included.

A total of 20 outcome measures were identified. The Vineland Adaptive Behavior Scales was the most used outcome measure. The most frequently associated ICF domains were d7 "Interpersonal interactions and relationships," d3 "Communication," and b1 "Mental functions." The most extensively assessed component was activities and participation. Bladder and bowel control (b5 "digestive, metabolic, and endocrine functions" and b6 "genitourinary and reproductive functions"), multitasking (d2 "general tasks and demands"), and environmental factors (e2 "natural environment and human-made changes" and e4 "attitudes") were each linked only once to the outcome measures. None of the studies addressed the body structures component.

No single instrument adequately encompasses all ICF domains, underscoring a significant gap in current assessment tools. The domains of body structures, environmental factors and some body functions were under-assessed in studies involving autistic children and adolescents.

Current treatment approaches for Autism spectrum disorder (ASD) primarily focus on symptom management rather than addressing underlying dysfunctions. The ketogenic diet (KD), a high-fat, low-carbohydrate diet inducing nutritional ketosis, has shown promise in treating epilepsy and may offer therapeutic benefits for ASD by modulating metabolic and neuroprotective pathways. This review examined the potential impact of KD on underlying mechanisms in ASD. While evidence from human studies on underlying mechanisms is limited, animal research has shown a large overlap of mechanisms modulated by KD and dysfunctions in ASD. As such, targeting multiple disrupted pathways at once, KD presents a potential multifaceted treatment approach for ASD. However, more evidence from human studies is needed on the effectiveness of KD in the modulation of underlying dysfunctions in ASD. Additionally, precision medicine approaches could help identify individuals who would benefit most from the intervention, potentially extending its use to other psychiatric conditions with similar metabolic patterns. Consequently, KD interventions might show the potential to induce a drastic paradigm shift in understanding and treating ASD.