Search

Background: In the current digital age, individuals often look to the widely used social media application “TikTok” to obtain information about autism spectrum disorder (ASD). Despite this, no studies have evaluated the quality of information available about ASD on the app. Our aim was to investigate the understandability, actionability, and usefulness of TikTok videos about ASD. Methods: To evaluate video quality, 100 videos tagged with “autism spectrum disorder” were obtained from TikTok between June 19th-21st, 2023. Videos were included if they pertained to ASD and excluded if they were not in English, unrelated to ASD, or duplicates. Two systems were used to assess the videos. The Patient Education Materials Assessment Tool for Audio- Visual Materials (PEMAT-A/V) was used to obtain percentage scores for video understandability and actionability. The videos were also sorted into one of three categories: useful, personal experience, or misleading (UPM). The assignment was based on if they contained factual information, anecdotal personal experiences, or incorrect information, respectively. Results: Of the 100 videos analyzed, 24 % were classified as useful; 36 % as personal experience; and 40 % as misleading. They had a mean PEMAT-A/V understandability score of 60.1 % (SD=14.5, range=31.0–91.7 %) and a median PEMAT-A/V actionability score of 0 % (IQR=0–0, range=0–100 %). The breakdown of topics discussed in the videos were as follows: 62 % of videos discussed the diagnosis/symptoms of ASD, 17 % pertained to disorder management, 7 % gave an overview of the disorder as a whole, 2 % discussed the cause of ASD, and 7 % contained information classified as “other”. The majority of the videos were made by non-HCPs (86 %), while the remaining videos were made by HCPs (14 %). HCPs uploaded a significantly higher percentage of useful content (50 %) than non-HCPs (20 %, p = 0.034). HCPs also uploaded a significantly higher percentage of Diagnosis/Symptoms content (85.7 %) than non-HCPs (62 %, p = 0.015). Conclusion: TikTok content about ASD is of unsatisfactory quality. Overall, videos are of moderate understandability, very low actionability, and are often misleading. Individuals should exercise caution when browsing the app for information about ASD, and HCPs should be aware that patients are likely to have been exposed to confusing or misleading information.

OBJECTIVE: To analyze the association between maternal pesticide exposure and autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorders (ADHD) in offspring. METHOD: Five databases including PubMed, Embase, Web of Science, Medline, as well as PsycINFO were systematically retrieved for the records related to pesticide exposure during pregnancy and ASD and ADHD in offspring before August 30, 2022. The pesticide category, maternal age and window of exposure as the main subgroups were presented. RESULTS: 949 studies were initially identified, and 19 studies were eventually included. Eleven were on ASD, seven were on ADHD, and one was on both disorders. Maternal pesticide exposure was positively related to ASD (pooled OR = 1.19 (95%CI: 1.04 to 1.36)) and ADHD (pooled OR = 1.20 (95%CI: 1.04 to 1.38)) in offspring. In the subgroup analysis, organophosphorus pesticides (OPs) (pooled OR = 1.14 (95%CI: 1.04 to 1.24)), pyrethroid (pooled OR = 1.40 (95%CI: 1.09 to 1.80)), and maternal age ≥30 years old (pooled OR = 1.24 (95%CI: 1.10 to 1.40)) increased the risk of ASD in offspring. Maternal organochlorine pesticides (OCPs) exposure was a risk factor for ADHD in offspring (pooled OR = 1.22 (95%CI: 1.03 to 1.45)). CONCLUSION: Maternal pesticide exposure increased the risk of ASD and ADHD in offspring. Moreover, OPs, pyrethroid, and maternal age ≥30 years old were found to be risk factors affecting childrens ASD. Maternal exposure to OCPs increased the risk of ADHD in offspring. Our findings contribute to our understanding of health risks related to maternal pesticide exposure and indicate that the in utero developmental period is a vulnerable window-of-susceptibility for ASD and ADHD risk in offspring. These findings should guide policies that limit maternal exposure to pesticides, especially for pregnant women living in agricultural areas.

INTRODUCTION: Recent work challenged past findings that documented relational memory impairments in autism. Previous studies often relied solely on explicit behavioral responses to assess relational memory integrity, but successful performance on behavioral tasks may rely on other cognitive abilities (e.g., executive functioning) that are impacted in some autistic individuals. Eye-tracking tasks do not require explicit behavioral responses, and, further, eye movements provide an indirect measure of memory. The current study examined whether memory-specific viewing patterns toward scenes differ between autistic and non-autistic individuals. METHODS: Using a long-term memory paradigm that equated for complexity between item and relational memory tasks, participants studied a series of scenes. Following the initial study phase, scenes were re-presented, accompanied by an orienting question that directed participants to attend to either features of an item (i.e., in the item condition) or spatial relationships between items (i.e., in the relational condition) that might be subsequently modified during test. At test, participants viewed scenes that were unchanged (i.e., repeated from study), scenes that underwent an item modification (an exemplar switch) or a relational modification (a location switch), and scenes that had not been presented before. Eye movements were recorded throughout. RESULTS: During study, there were no significant group differences in viewing directed to regions of scenes that might be manipulated at test, suggesting comparable processing of scene details during encoding. However, there was a group difference in explicit recognition accuracy for scenes that underwent a relational change. Marginal group differences in the expression of memory-based viewing effects during test for relational scenes were consistent with this behavioral outcome, particularly when analyses were limited to scenes recognized correctly with high confidence. Group differences were also evident in correlational analyses that examined the association between study phase viewing and recognition accuracy and between performance on the Picture Sequence Memory Test and recognition accuracy. DISCUSSION: Together, our findings suggest differences in the integrity of relational memory representations and/or in the relationships between subcomponents of memory in autism.

Autism spectrum disorder (AU) is present in approximately 2% of the population and is often associated with co-morbidities that can impact quality of life. One of the most common co-morbidities in autism is the presence of gastrointestinal (GI) symptoms consisting of irregular bowel habits such as constipation, diarrhea, or alternating bowel habit. Evidence of immune infiltration and immune activation has been shown in the ileum and colon of children with AU with GI symptoms. Moreover, immune dysfunction is a contributing factor in many GI diseases, and we hypothesize that it would be more apparent in children with AU that exhibit GI symptoms than those who do not present with GI symptoms. The aim of this preliminary study was to determine whether there are altered cytokine levels in plasma in children with AU with GI symptoms compared with children with AU without GI symptoms, typically developing (TD) children with GI symptoms and TD children without GI symptoms, from the same population-based cohort. Plasma cytokine levels were assessed by multiplex assays. No differences in plasma cytokines were observed in TD controls with or without GI symptoms; however, many innate (IL-1α, TNFα, GM-CSF, IFNα) and adaptive cytokines (IL-4, IL-13, IL-12p70) were increased in AU children with GI symptoms compared with children with AU with no GI symptoms. The mucosal relevant cytokine IL-15 was increased in AU with GI symptoms compared with all groups. In contrast, the regulatory cytokine IL-10, was reduced in AU with GI symptoms and may suggest an imbalance in pro-inflammatory/regulatory signals. These data suggest that children with AU and GI symptoms have an imbalance in their immune response that is evident in their circulating plasma cytokine levels. A finding that could point to potential therapeutic and/or monitoring strategies for GI issues in AU.

Activation refers to patients' belief, knowledge, ability, and persistence to manage care. The concept is adapted to parent activation in developmental disorders. This study examined the psychometrics of the Parent Activation Measure for Developmental Disabilities (PAM-DD) and factors related to parent activation in ASD. Data from 658 caregivers of children with ASD in the Autism Treatment Network Registry Call Back Assessment study were analyzed. The actual ordering of the scale items was inconsistent with the assumptions of a Guttman scaling. Factor analysis revealed two PAM-DD factors. Lower child symptom severity was related to higher Factor 1 and lower Factor 2 activation. Future studies should use caution when treating PAM-DD as a Guttman and unidimensional scale.

A growing literature supports the feasibility and validity of telehealth-based assessments for autism spectrum disorder (ASD). Better understanding families' experiences is crucial for sustained use beyond the COVID-19 pandemic. This study qualitatively examines caregiver experiences with the Telehealth Evaluation of Development for Infants (TEDI) protocol to better understand benefits and challenges of telehealth-based evaluations. Caregivers (N = 32) completed an online survey following a telehealth-based evaluation with their 6-12 month-old infants. Open-ended text responses to queries about perceived benefits, challenges, and suggestions for future adaptations were coded. Most caregivers reported positive experiences with minor feedback relating to tailoring of individual needs. Responses suggest the TEDI is a feasible approach and provide guidance for components of successful telehealth evaluations more broadly.

BackgroundThis implementation feasibility study was conducted to determine whether an evidence-based parent-implemented distance-learning intervention model for young children at high likelihood of having ASD could be implemented at fidelity by Part C community providers and by parents in low-resource communities.MethodsThe study used a community-academic partnership model to adapt an evidence-based intervention tested in the current pilot trial involving randomization by agency in four states and enrollment of 35 coaches and 34 parent-family dyads. After baseline data were gathered, providers in the experimental group received 12-15 h of training while control providers received six webinars on early development. Providers delivered 6 months of intervention with children-families, concluding with data collection. Regression analyses were used to model outcomes of the coach behaviors, the parent fidelity ratings, and child outcomes.ResultsA block design model-building approach was used to test the null model followed by the inclusion of group as a predictor, and finally the inclusion of the planned covariates. Model fit was examined using changes in R2 and F-statistic. As hypothesized, results demonstrated significant gains in (1) experimental provider fidelity of coaching implementation compared to the control group; and (2) experimental parent fidelity of implementation compared to the control group. There were no significant differences between groups on child developmental scores.ConclusionsEven though the experimental parent group averaged less than 30 min of intervention weekly with providers in the 6 months, both providers and parents demonstrated statistically significant gains on the fidelity of implementation scores with moderate effect sizes compared to control groups. Since child changes in parent-mediated models are dependent upon the parents' ability to deliver the intervention, and since parent delivery is dependent upon providers who are coaching the parents, these results demonstrated that two of these three links of the chain were positively affected by the experimental implementation model. However, a lack of significant differences in child group gains suggests that further work is needed on this model. Factors to consider include the amount of contact with the provider, the amount of practice children experience, the amount of contact both providers and parents spend on training materials, and motivational strategies for parents, among others.Trial registrationRegistry of Efficacy and Effectiveness Studies: #4360, registered 1xx, October, 2020 - Retrospectively registered, https://sreereg.icpsr.umich.edu/sreereg/.

Background: Synthetic oxytocin (sOT) is frequently administered during parturition. Studies have raised concerns that fetal exposure to sOT may be associated with altered brain development and risk of neurodevelopmental disorders. In a large and diverse sample of children with data about intrapartum sOT exposure and subsequent diagnoses of two prevalent neurodevelopmental disorders, i.e., attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD), we tested the following hypotheses: (1) Intrapartum sOT exposure is associated with increased odds of child ADHD or ASD; (2) associations differ across sex; (3) associations between intrapartum sOT exposure and ADHD or ASD are accentuated in offspring of mothers with pre-pregnancy obesity. Methods: The study sample comprised 12,503 participants from 44 cohort sites included in the Environmental Influences on Child Health Outcomes (ECHO) consortium. Mixed-effects logistic regression analyses were used to estimate the association between intrapartum sOT exposure and offspring ADHD or ASD (in separate models). Maternal obesity (pre-pregnancy BMI ≥ 30 kg/m2) and child sex were evaluated for effect modification. Results: Intrapartum sOT exposure was present in 48% of participants. sOT exposure was not associated with increased odds of ASD (adjusted odds ratio [aOR] 0.86; 95% confidence interval [CI], 0.71–1.03) or ADHD (aOR 0.89; 95% CI, 0.76–1.04). Associations did not differ by child sex. Among mothers with pre-pregnancy obesity, sOT exposure was associated with lower odds of offspring ADHD (aOR 0.72; 95% CI, 0.55–0.96). No association was found among mothers without obesity (aOR 0.97; 95% CI, 0.80–1.18). Conclusions: In a large, diverse sample, we found no evidence of an association between intrapartum exposure to sOT and odds of ADHD or ASD in either male or female offspring. Contrary to our hypothesis, among mothers with pre-pregnancy obesity, sOT exposure was associated with lower odds of child ADHD diagnosis. [ABSTRACT FROM AUTHOR]

According to official estimations, autism spectrum disorder (ASD) affects around 1% of European newborns. The high level of dependency of ASD-affected subjects entails an extremely high social and economic cost. However, early intervention can drastically improve children's development and thus reduce their dependency. One of the main common characteristics of subjects with ASD is difficulties with social interaction, which determines how they react to certain stimuli. This behavior can be automatically detected by analyzing their gaze. This study explores and evaluates the feasibility of automatic screening for ASD in toddlers under 24 months of age based on this specific behavior. We applied a matched pairs experimental design and a set of test videos, using a set of variables extracted from gaze analysis from toddlers using eye-tracking devices. The different videos try to capture social engagement, social information gathering gaze exchanges, and gaze following. We used the data to make a thorough comparison of machine learning algorithms (nine learning schemes), including some that were used in related prior research, and others that are popular in classification problems. The results show that several of the tested algorithms provided notable performance. [ABSTRACT FROM AUTHOR]

Objectives: This study aimed to explore the core factors and configurations influencing parenting efficacy for fathers of children with ASD in Western China by using a configuration analysis. Background: Understanding the push-pull factors related to parenting efficacy for fathers raising children with ASD can support the fathers of children with ASD to participate in education affairs and improve the quality of family education, which is of significant importance to both individuals and society. This study recruited 156 fathers of children with ASD from China. Results: The results suggested that there was more than one (sub) configuration for achieving a high level of parenting efficacy among fathers of children with ASD. (b) The configurations could be summarized into three main types as follows: "working within the system*flexible working time," "high level of education*high level of other support," and "severe disability*fewer interaction with wife." (c) The two variables, "family income" and "community support," were not as important as they were shown in previous studies, and their effects often depended on how they interact with other variables. Conclusions: Findings highlighted the validity of deploying configuration analysis (based on the ecosystem theory) to establish the relationship between independent variables and the parenting efficacy of fathers of children with ASD. The discovery of more than one configuration led to a new consensus on how multiple factors influence parenting efficacy. Implications were suggested for practitioners, policymakers, and future research alike. [ABSTRACT FROM AUTHOR]

Background and aims: Fascinations for or aversions to particular sounds are a familiar feature of autism, as is an ability to reproduce another person's utterances, precisely copying the other person's prosody as well as their words. Such observations seem to indicate not only that autistic people can pay close attention to what they hear, but also that they have the ability to perceive the finer details of auditory stimuli. This is consistent with the previously reported consensus that absolute pitch is more common in autistic individuals than in neurotypicals. We take this to suggest that autistic people have perception that allows them to pay attention to fine details. It is important to establish whether or not this is so as autism is often presented as a deficit rather than a difference. We therefore undertook a narrative literature review of studies of auditory perception, in autistic and nonautistic individuals, focussing on any differences in processing linguistic and nonlinguistic sounds. Main contributions: We find persuasive evidence that nonlinguistic auditory perception in autistic children differs from that of nonautistic children. This is supported by the additional finding of a higher prevalence of absolute pitch and enhanced pitch discriminating abilities in autistic children compared to neurotypical children. Such abilities appear to stem from atypical perception, which is biased toward local-level information necessary for processing pitch and other prosodic features. Enhanced pitch discriminating abilities tend to be found in autistic individuals with a history of language delay, suggesting possible reciprocity. Research on various aspects of language development in autism also supports the hypothesis that atypical pitch perception may be accountable for observed differences in language development in autism. Conclusions: The results of our review of previously published studies are consistent with the hypothesis that auditory perception, and particularly pitch perception, in autism are different from the norm but not always impaired. Detail-oriented pitch perception may be an advantage given the right environment. We speculate that unusually heightened sensitivity to pitch differences may be at the cost of the normal development of the perception of the sounds that contribute most to early language development. Implications: The acquisition of speech and language may be a process that normally involves an enhanced perception of speech sounds at the expense of the processing of nonlinguistic sounds, but autistic children may not give speech sounds this same priority. [ABSTRACT FROM AUTHOR]

Background: Autism spectrum disorder has been linked to a variety of organizational and developmental deviations in the brain. One such organizational difference involves hemispheric lateralization, which may be localized to language-relevant regions of the brain or distributed more broadly. Methods: In the present study, we estimated brain hemispheric lateralization in autism based on each participant's unique functional neuroanatomy rather than relying on group-averaged data. Additionally, we explored potential relationships between the lateralization of the language network and behavioral phenotypes including verbal ability, language delay, and autism symptom severity. We hypothesized that differences in hemispheric asymmetries in autism would be limited to the language network, with the alternative hypothesis of pervasive differences in lateralization. We tested this and other hypotheses by employing a cross-sectional dataset of 118 individuals (48 autistic, 70 neurotypical). Using resting-state fMRI, we generated individual network parcellations and estimated network asymmetries using a surface area-based approach. A series of multiple regressions were then used to compare network asymmetries for eight significantly lateralized networks between groups. Results: We found significant group differences in lateralization for the left-lateralized Language (d = -0.89), right-lateralized Salience/Ventral Attention-A (d = 0.55), and right-lateralized Control-B (d = 0.51) networks, with the direction of these group differences indicating less asymmetry in autistic males. These differences were robust across different datasets from the same participants. Furthermore, we found that language delay stratified language lateralization, with the greatest group differences in language lateralization occurring between autistic males with language delay and neurotypical individuals. Conclusions: These findings evidence a complex pattern of functional lateralization differences in autism, extending beyond the Language network to the Salience/Ventral Attention-A and Control-B networks, yet not encompassing all networks, indicating a selective divergence rather than a pervasive one. Moreover, we observed an association between Language network lateralization and language delay in autistic males. [ABSTRACT FROM AUTHOR]

Background: Small pilot studies have suggested that transcranial photobiomodulation (tPBM) could help reduce symptoms of neurological conditions, such as depression, traumatic brain injury, and autism spectrum disorder (ASD). Objective: To examine the impact of tPBM on the symptoms of ASD in children aged two to six years. Method: We conducted a randomized, sham-controlled clinical trial involving thirty children aged two to six years with a prior diagnosis of ASD. We delivered pulses of near-infrared light (40 Hz, 850 nm) noninvasively to selected brain areas twice a week for eight weeks, using an investigational medical device designed for this purpose (Cognilum™, JelikaLite Corp., New York, United States). We used the Childhood Autism Rating Scale (CARS, 2nd Edition) to assess and compare the ASD symptoms of participants before and after the treatment course. We collected electroencephalogram (EEG) data during each session from those participants who tolerated wearing the EEG cap. Results: The difference in the change in CARS scores between the two groups was 7.23 (95% CI 2.357 to 12.107, p = 0.011). Seventeen of the thirty participants completed at least two EEGs and time-dependent trends were detected. In addition, an interaction between Active versus Sham and Scaled Time was observed in delta power (Coefficient = 7.521, 95% CI -0.517 to 15.559, p = 0.07) and theta power (Coefficient = -8.287, 95% CI -17.199 to 0.626, p = 0.07), indicating a potential trend towards a greater reduction in delta power and an increase in theta power over time with treatment in the Active group, compared to the Sham group. Furthermore, there was a significant difference in the condition (Treatment vs. Sham) in the power of theta waves (net_theta) (Coefficient = 9.547, 95% CI 0.027 to 19.067, p = 0.049). No moderate or severe side effects or adverse effects were reported or observed during the trial. Conclusion: These results indicate that tPBM may be a safe and effective treatment for ASD and should be studied in more depth in larger studies. [ABSTRACT FROM AUTHOR]

Background: This study aimed to characterize the frequency of RAI1 genetic aberrations associated with Smith–Magenis syndrome (SMS), in a large cohort of autism spectrum disorder (ASD) whole-genome sequencing samples. We aimed to determine the frequencies of RAI1 single-nucleotide variants (SNVs) and copy number variants (CNVs). Results: We report a 2.5 × enrichment of the major deletion and a > 5 × enrichment of the frameshift variants as compared to the known prevalence of SMS 1/15,000. Additionally, we report a significant enrichment of RAI1 rare missense variants in ASD subjects with respect to controls (54 variants/6080 ASD subjects and 6 variants/2541 controls, p-value < 0.002, OR 3.78, CI 1.62–8–81). Conclusions: The SMS phenotype including circadian dysregulation and associated sleep disturbances is mainly caused by RAI1 haploinsufficiency. Sleep disturbances as seen in SMS may overlap in ASD, especially in patients with consequential variants in RAI1 gene. [ABSTRACT FROM AUTHOR]

There is a dearth of research into the experience of adult diagnosis of autism spectrum disorder, and targeted research is needed to understand the needs of these adults. The aim of this coproduced review was to assess existing qualitative data on the lived experience of receiving an autism spectrum disorder diagnosis, identify recurring themes, and synthesize them into a visual model representing the journey through diagnosis. Using thematic analysis, we analyzed qualitative data from 24 studies of adult experiences of autism spectrum disorder diagnosis from PsycINFO, Embase, MEDLINE, and CINAHL. Thirty-two "descriptive" themes and three superordinate themes were identified. These themes represented how factors relating to identity and relationships are impacted by the diagnosis of autism spectrum disorder and the role of adaptation and assimilation. While the diagnostic process was confusing and disappointing for many, it often led to a sense of relief and clarity regarding past experiences. It created opportunities to connect with other autistic individuals and to access services, though appropriate supports were widely lacking. Recommendations are made that the diagnosis process explicitly considers needs in relation to: the impact of the diagnosis on identity, interactions with other people, choices regarding disclosure, and whether and how to make informed adaptations. There is little research looking at the experience of individuals diagnosed with autism spectrum disorder as adults. Adults diagnosed with autism spectrum disorder face different challenges than children, and more research is needed to better understand those challenges. For this review, autistic and non-autistic researchers looked at research on the experience of receiving a diagnosis of autism spectrum disorder as an adult. We looked for themes in people's experience leading up to diagnosis, going through the diagnostic process, and living their life after diagnosis. We analyzed 24 studies and found three overarching themes that captured thirty-two themes describing the experience of diagnosis. The three overarching themes expressed issues with identity and relationships before and after the diagnosis and identified that the diagnosis of autism spectrum disorder in adulthood impacted people's adaptation to and assimilation (i.e. the making sense of and internalizing the diagnosis) of autism spectrum disorder. While the diagnostic process itself was confusing and disappointing for many, it often led to a sense of relief and clarity regarding past experiences and had effects on identity and self-esteem. It created opportunities to connect with other autistic individuals and to access services, though appropriate supports were widely lacking. Recommendations are made that the impact of the diagnosis on people's identity and choices about telling others about their diagnosis, and whether and how people want to make adaptations, should be discussed and thought through in the process of diagnosis. [ABSTRACT FROM AUTHOR]

• Evaluated two versions of parent-led CBT for anxiety in autistic youth. • Compared low with standard therapist contact. • No differences were found in primary or secondary outcomes. • 69% of completers were responders at posttreatment. • Low-contact CBT saved an average of $1,222.64 per family. Parent-led cognitive behavioral therapy (CBT) is an efficient, promising form of therapy that may be well suited for autistic youth with anxiety disorders, though to date it has been minimally tested. In this study, 87 autistic youth (7 to 13 years old) with anxiety disorders and their parents were randomized to two forms of parent-led CBT in which parents led their child through a guided CBT workbook across 12 weeks: one with low therapist contact (four 30-minute telehealth calls), and one with standard therapist contact (ten 60-minute telehealth calls). Anxiety, functional impairment, and autism features significantly declined across therapy, without differences between groups. High satisfaction was reported in both groups, though significantly higher satisfaction ratings were reported in standard-contact CBT. Responder rates were 69% of completers at posttreatment (70% in standard contact, 68% in low contact) and 86% at 3-month follow-up (86% in standard contact, 87% in low contact). Low-contact CBT was estimated to incur an average cost of $755.70 per family compared with $1,978.34 in standard-contact CBT. Parent-led CBT with minimal or standard therapist contact both appear to be effective CBT delivery formats for autistic youth with anxiety disorders, with significant cost savings for low-contact CBT. [ABSTRACT FROM AUTHOR]

The capacity of families with autistic children to demonstrate resilience is a notable strength that has received little attention in the literature. A potential predictor of family resilience in households with autistic youth is neighborhood support. This study examined the relationship between neighborhood support and family resilience in households with autistic youth utilizing data from the National Survey of Children's Health. A structural equation model was constructed as neighborhood support and family resilience were latent variables. Findings demonstrated that neighborhood support significantly predicts family resilience. This study contributes to the literature as the first quantitative investigation of predictors of family resilience with this group. Strengths of autistic youth, their families, and their communities can be and should be leveraged to address challenges. [ABSTRACT FROM AUTHOR]

Autism is a spectrum disorder (abbreviated ASD – autism spectrum disorder), which encompasses a variety of developmental challenges in communication, thinking, cognitive skills, interests, and forms of activity, as well as motor skills. Ensuring that people with autism spectrum disorder realise their right to work seems to be a problem in Poland, contributing to their discrimination. The aim of the paper is to present the issue of employment of adults on the autism spectrum in Poland as a member state of the European Union in the light of the international standard. The article discusses the objective and subjective approach to adults with ASD in Poland, the legal conditions of their employment (including international law), as well as the results of empirical research and conclusions in this respect. [ABSTRACT FROM AUTHOR]

Currently, there is abundant literature on the treatment of autism in the media, but not on the perceptions that people with autism and their families have about how they are represented in the media. In the present study we disseminate the results of a research whose main objective is to contrast how autism is exposed in series, films, and documentaries and to assess what level of the representations they transmit to society through group interviews to a total of 20 people, including family members and people with autism, and their subsequent analysis and coding. The results show that the transmission of knowledge and non-formal information through the media is insufficient, sensationalist, stereotyped and, therefore, fosters myths and prejudices in the general society, perpetuating a biased and distorted social idea of autism. [ABSTRACT FROM AUTHOR]

Copyright of Revista Gênero e Interdisciplinaridade is the property of Instituto de Ensino e Pesquisa Periodicojs and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objectives: This study aims to determine if the CNTNAP2 gene polymorphism at the rs7794745 locus is associated with autism spectrum disorder (ASD) by comparing its frequency in autistic children and healthy controls. Methods: The case-control study involved a total of 150 samples, comprising 80 individuals diagnosed with autism spectrum disorder (ASD) and 70 healthy children. These participants, both male and female, had an average age of 3.5 ± 3 years for autistic individuals and 4.2 ± 3 years for healthy children. Genomic analysis was performed by amplifying and scrutinizing DNA sequences through the utilization of polymerase chain reaction (PCR) and restriction enzymes. Specifically, the genotyping of the CNTNAP2 gene at the rs7794745 locus was accomplished using the PCR-RFLP method. To facilitate genotyping, the isolation of DNA from peripheral blood cells sourced from healthy children and patients. Results: Our findings indicated a statistically non-significant low-frequency distribution (P-value > 0.05) of the rs7794745 SNP in ASD patients compared to healthy children. Conclusion: The study's findings propose that there is no correlation between the rs7794745 polymorphism and autism spectrum disorder (ASD). [ABSTRACT FROM AUTHOR]

Objective: Verbal fluency, the capacity to generate words from a designated category, predicts myriad cognitive and life outcomes. The study investigated verbal fluency in children with ADHD, autism spectrum disorder (ASD), and comorbid ADHD and ASD, to understand how ADHD- and ASD-related symptoms individually and jointly predict verbal fluency, and the underlying linguistic and cognitive substrates. Method: Thirty-three school-aged children with ADHD, 27 with ASD, 25 with comorbid ADHD and ASD, and 39 with typical development, were assessed for ADHD and ASD symptoms and completed a semantic verbal fluency task. Results: Findings indicated that ADHD and ASD symptoms, especially ADHD hyperactivity-impulsivity symptoms and language-related ASD symptoms, interactively predicted verbal fluency across diagnostic groups. Conclusion: The study implicated the potential cognitive and linguistic mechanisms underlying verbal fluency differences in ADHD and/or ASD, and clinical practices on enhancing verbal fluency in these clinical groups. [ABSTRACT FROM AUTHOR]

In the transformation towards inclusive education, teachers are professionals who research, reflect on, and identify the conditions that hinder their development and that of their students. This study focused on a population of pupils with autism spectrum disorder (ASD). It aimed to apply a quantitative methodology to analyze the relationships existing among the barriers perceived in the teaching-learning process, teacher needs, and transformative attitudes toward the process of inclusion of these children. A total of 454 teachers from mainstream schools participated in this study. A Structural Equation Model was carried out to test the proposed relationships. The results showed that a greater perception of the barriers faced by these students meant that the needs perceived by teachers were also more pronounced. These needs are related to training and experience regarding the inclusion of pupils with ASD, as well as the resources and support teachers available to them. Perceived needs have significant positive effects on teachers’ attitudes in favour of transforming the process of inclusion of pupils with ASD. The importance of introducing changes in inclusive education for the most vulnerable students was highlighted. [ABSTRACT FROM AUTHOR]

Objectives: To enhance the early detection of Attention Deficit/Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD) by leveraging clinical variables collected at child and adolescent mental health services (CAMHS). Methods: This study included children diagnosed with ADHD and/or ASD (n = 857). Three logistic regression models were developed to predict the presence of ADHD, its subtypes, and ASD. The analysis began with univariate logistic regression, followed by a multicollinearity diagnostic. A backward logistic regression selection strategy was then employed to retain variables with p < 0.05. Ethical approval was obtained from the local ethics committee. The models' internal validity was evaluated based on their calibration and discriminative abilities. Results: The study produced models that are well-calibrated and validated for predicting ADHD (incorporating variables such as physical activity, history of bone fractures, and admissions to pediatric/psychiatric services) and ASD (including disability, gender, special education needs, and Axis V diagnoses, among others). Conclusions: Clinical variables can play a significant role in enhancing the early identification of ADHD and ASD. [ABSTRACT FROM AUTHOR]

Background: Neurodevelopmental conditions such as intellectual disability (ID) and autism spectrum disorder (ASD) can stem from a broad array of inherited and de novo genetic differences, with marked physiological and behavioral impacts. We currently know little about the psychiatric phenotypes of rare genetic variants associated with ASD, despite heightened risk of psychiatric concerns in ASD more broadly. Understanding behavioral features of these variants can identify shared versus specific phenotypes across gene groups, facilitate mechanistic models, and provide prognostic insights to inform clinical practice. In this paper, we evaluate behavioral features within three gene groups associated with ID and ASD – ADNP, CHD8, and DYRK1A – with two aims: (1) characterize phenotypes across behavioral domains of anxiety, depression, ADHD, and challenging behavior; and (2) understand whether age and early developmental milestones are associated with later mental health outcomes. Methods: Phenotypic data were obtained for youth with disruptive variants in ADNP, CHD8, or DYRK1A (N = 65, mean age = 8.7 years, 40% female) within a long-running, genetics-first study. Standardized caregiver-report measures of mental health features (anxiety, depression, attention-deficit/hyperactivity, oppositional behavior) and developmental history were extracted and analyzed for effects of gene group, age, and early developmental milestones on mental health features. Results: Patterns of mental health features varied by group, with anxiety most prominent for CHD8, oppositional features overrepresented among ADNP, and attentional and depressive features most prominent for DYRK1A. For the full sample, age was positively associated with anxiety features, such that elevations in anxiety relative to same-age and same-sex peers may worsen with increasing age. Predictive utility of early developmental milestones was limited, with evidence of early language delays predicting greater difficulties across behavioral domains only for the CHD8 group. Conclusions: Despite shared associations with autism and intellectual disability, disruptive variants in ADNP, CHD8, and DYRK1A may yield variable psychiatric phenotypes among children and adolescents. With replication in larger samples over time, efforts such as these may contribute to improved clinical care for affected children and adolescents, allow for earlier identification of emerging mental health difficulties, and promote early intervention to alleviate concerns and improve quality of life. [ABSTRACT FROM AUTHOR]

The gut-brain axis is evident in modulating neuropsychiatric diseases including autism spectrum disorder (ASD). Chromosomal 16p11.2 microduplication 16p11.2dp/+ is among the most prevalent genetic copy number variations (CNV) linked with ASD. However, the implications of gut microbiota status underlying the development of ASD-like impairments induced by 16p11.2dp/+ remains unclear. To address this, we initially investigated a mouse model of 16p11.2dp/+, which exhibits social novelty deficit and repetitive behavior characteristic of ASD. Subsequently, we conducted a comparative analysis of the gut microbial community and metabolomic profiles between 16p11.2dp/+ and their wild-type counterparts using 16S rRNA sequencing and liquid chromatography-mass spectrometry (LC/MS). Our microbiota analysis revealed structural dysbiosis in 16p11.2dp/+ mice, characterized by reduced biodiversity and alterations in species abundance, as indicated by α/β-diversity analysis. Specifically, we observed reduced relative abundances of Faecalibaculum and Romboutsia, accompanied by an increase in Turicibacter and Prevotellaceae UCG_001 in 16p11.2dp/+ group. Metabolomic analysis identified 19 significantly altered metabolites and unveiled enriched amino acid metabolism pathways. Notably, a disruption in the predominantly histamine-centered neurotransmitter network was observed in 16p11.2dp/+ mice. Collectively, our findings delineate potential alterations and correlations among the gut microbiota and microbial neurotransmitters in 16p11.2dp/+ mice, providing new insights into the pathogenesis of and treatment for 16p11.2 CNV-associated ASD. [ABSTRACT FROM AUTHOR]

Background: Parents of children with autism spectrum disorder (ASD) experience several negative psychological outcomes that are compounded by the presence of children's comorbid behavioral problems. Objective(s): To evaluate the effectiveness of a culturally sensitive parent training intervention for children with comorbid ASD and behavioral problems in a clinic-based setting in Alexandria, Egypt. Methods: A quasi-experimental study with non-equivalent groups (intervention, non-intervention, 46 each) was conducted targeting parents/caregivers of children aged ≥ 3 years with ASD and having at least one behavioral problem. The intervention group participated in a multi-component group intervention including psychoeducation, parent training and brief cognitive behavioral therapy. Both groups were assessed immediately after program completion (post -1) and 3 months later (post-2). Measured outcomes included caregivers' ASD related knowledge and emotional status, and children's behavioral problems, that were assessed using: ASD knowledge self-report questionnaire, The Arabic Version of Depression Anxiety Stress Scales, The Arabic Version of Strengths and Difficulties Questionnaire, and The Arabic Version of Home Situation Questionnaire for ASD. Results: Positive effect of the program was evidenced by significant improvement on all outcome measures at post-2. The highest p ercentage mean change was reported in caregivers' anxiety symptoms (-63.64), followed by caregivers' depression symptoms, child's behavioral problems and caregivers' stress symptoms (-52.63, -45.64 and -38.18, respectively). ASD related knowledge recorded the least percentage mean change (18.18). Conclusion: The current intervention provided evidence for the effectiveness of an Egyptian group - based parent-focused multi-component intervention in addressing educational and emotional problems of caregivers of children with comorbid ASD and behavioral problems. [ABSTRACT FROM AUTHOR]

During development we transition from coregulation (where regulatory processes are shared between child and caregiver) to self‐regulation. Most early coregulatory interactions aim to manage fluctuations in the infant's arousal and alertness; but over time, coregulatory processes become progressively elaborated to encompass other functions such as sociocommunicative development, attention and executive control. The fundamental aim of coregulation is to help maintain an optimal 'critical state' between hypo‐ and hyperactivity. Here, we present a dynamic framework for understanding child–caregiver coregulatory interactions in the context of psychopathology. Early coregulatory processes involve both passive entrainment, through which a child's state entrains to the caregiver's, and active contingent responsiveness, through which the caregiver changes their behaviour in response to behaviours from the child. Similar principles, of interactive but asymmetric contingency, drive joint attention and the maintenance of epistemic states as well as arousal/alertness, emotion regulation and sociocommunicative development. We describe three ways in which active child–caregiver regulation can develop atypically, in conditions such as Autism, ADHD, anxiety and depression. The most well‐known of these is insufficient contingent responsiveness, leading to reduced synchrony, which has been shown across a range of modalities in different disorders, and which is the target of most current interventions. We also present evidence that excessive contingent responsiveness and excessive synchrony can develop in some circumstances. And we show that positive feedback interactions can develop, which are contingent but mutually amplificatory child–caregiver interactions that drive the child further from their critical state. We discuss implications of these findings for future intervention research, and directions for future work. [ABSTRACT FROM AUTHOR]

The aim of this paper was to analyze the acute and chronic effects of physical activity (PA) on cognition, behavior, and motor skill in youth with autism spectrum disorder (ASD), taking into account potential confounders. In addition, it was intended to elaborate a guide of educational applications with strategies for PA use. Studies were identified in four databases from January 2010 to June 2023. A total of 19 interventional studies met the inclusion criteria. PA programs ranged from two weeks to one year in duration, with a frequency of one to five sessions per week. More than 58% of the studies showed positive effects of PA on cognition, and 45.5% on behavior and motor skill. Moderate–vigorous PA for 15–30 min has shown acute effects on cognition, general behavior, and stereotypic/repetitive behaviors in youth with ASD. A total of 9 out of 14 studies showed chronic effects on general behavior and stereotypic behaviors, and only 6 on motor skills. [ABSTRACT FROM AUTHOR]

The experience of family members of children with autism spectrum disorder (ASD) is not uniform. This study focused on mothers of a child with ASD (Study 1) and typically developing siblings (TDSs) during their emerging adulthood (Study 2). Similarities and differences were explored regarding a proposed model examining the paths of perceived social support (PSS) and normalization (a coping strategy) with subjective well-being: satisfaction with life (SWL) and positive affect (PA). Similarities were found in the paths between PSS, normalization, and SWL, in mothers and TDSs, but differences emerged regarding PA. These findings highlight the importance of PSS as a resource that contributes to normalization and SWL. Professional awareness of family members' PSS and their engagement in normalization is needed. [ABSTRACT FROM AUTHOR]

Autistic children (Autism Spectrum Disorder, ASD) show an increased risk of bullying victimization and often face challenges in communication and peer relationships. However, it is unclear to what extent the amount and quality of ASD traits are associated with bullying victimization. This study examined the association of bullying victimization and ASD traits in an epidemiological population of 8-year-old children (n = 4408) using parent and teacher completed Autism Spectrum Screening Questionnaires (ASSQs), both separately and combined. The ASSQ items relating to loneliness and social isolation, lack of co-operating skills, clumsiness and lack of common sense were associated with victimization in the study population. The higher the ASSQ scores, the more the children were victimized: the ASSQ scores increased in parallel with victimization from 0 (0% victimized) to 45 (64% victimized). The victimization rate was 46% in ASD sample, 2% in the total population sample and 2% in the non-ASD population sample. The results enable more targeted means for recognizing potential victimization. [ABSTRACT FROM AUTHOR]

The spread of COVID-19 resulted in restrictive lockdowns. For families supporting young people with autism spectrum disorder (ASD), the service system was stripped away. The aim of this study was to explore the impact of this challenging situation on a group of Australian carers and parents of children and young people with ASD, with an intention to inform policy and practice based on the lived experiences of these families. A survey of parents of children and young people with ASD in Australia returned 117 responses, of which 86 responded to open-ended questions about COVID-19 lockdowns. Twelve parents responded to the invitation to be interviewed. Interview and survey data were analysed thematically. Five themes emerged: accessing support services, receiving support services online, changes in behaviour, higher levels of conflict, and impact on health and relationships. The experience of lockdowns under COVID-19 undermined informal and formal support systems, and had a particularly strong negative impact on the experiences of children with ASD and their families. These findings also provide support for understanding the social model of disability as a mainstay in the lives of children with disabilities and their carers. IMPLICATIONS The social model of disability was dismantled for children and young people and their carers during the COVID crisis. This unacceptable attack on the human rights of disabled people (people with a disability) needs future planning to ensure that it does not occur again. Future crises require more nuanced policy and practice responses that do not close off all child and family supports to children with ASD and their carers. [ABSTRACT FROM AUTHOR]

Lack of eye contact and imitation deficits are frequently targeted in behavioral interventions for children with autism spectrum disorder (ASD). In this study, we examined the effects of prompting and modeling on the imitation skills and eye contact of three Arabic-speaking young children with ASD in Syria. A multiple baseline design with a withdrawal component was used to evaluate the effects of the intervention in a clinical setting, at a center for children with special needs, and in follow-up sessions conducted in the participants' homes. All participants' imitative responses and eye contact increased when prompting and modeling were used. Our findings support the effectiveness of prompting and modeling on imitation skills. [ABSTRACT FROM AUTHOR]

Haploinsufficiency of the PRR12 gene is implicated in a human neuro-ocular syndrome. Although identified as a nuclear protein highly expressed in the embryonic mouse brain, PRR12 molecular function remains elusive. This study explores the spatio-temporal expression of zebrafish PRR12 co-orthologs, prr12a and prr12b, as a first step to elucidate their function. In silico analysis reveals high evolutionary conservation in the DNA-interacting domains for both orthologs, with significant syntenic conservation observed for the prr12b locus. In situ hybridization and RT-qPCR analyses on zebrafish embryos and larvae reveal distinct expression patterns: prr12a is expressed early in zygotic development, mainly in the central nervous system, while prr12b expression initiates during gastrulation, localizing later to dopaminergic telencephalic and diencephalic cell clusters. Both transcripts are enriched in the ganglion cell and inner neural layers of the 72 hpf retina, with prr12b widely distributed in the ciliary marginal zone. In the adult brain, prr12a and prr12b are found in the cerebellum, amygdala and ventral telencephalon, which represent the main areas affected in autistic patients. Overall, this study suggests PRR12's potential involvement in eye and brain development, laying the groundwork for further investigations into PRR12-related neurobehavioral disorders. [ABSTRACT FROM AUTHOR]

The purpose of this study was to investigate the relationship between family functioning and strengths in the context of parents of children with autism spectrum disorder (ASD) in Saudi Arabia. A total of 300 parents of a child with ASD completed a self-report questionnaire, the Family Adaptability and Cohesion Evaluation Scales (FACES IV), Family Communication Scale (FCS), Family Satisfaction Scale (FSS), and Family Strengths Scale, to measure different balanced and unbalanced aspects of family cohesion and flexibility, family communication skills, extent of satisfaction with family functioning, and the accord and pride facets of family strength. The data were analyzed using independent sample t -test, F -test, and ANOVA. The severity of child's ASD symptoms and age of the child when diagnosed with ASD had a significant effect on a family's cohesion and flexibility, communication, and accord. The parents' years of marriage and annual income also had a significant effect on cohesion, flexibility, communication, and family strengths. Contributions of the study, limitations, and implications for future research and practice are provided. [ABSTRACT FROM AUTHOR]

PTEN hamartoma tumour syndrome (PHTS) comprises different hereditary conditions caused by germline PTEN mutations, predisposing to the development of multiple hamartomas in many body tissues and also increasing the risk of some types of cancer. Cerebellar involvement in PHTS patients has been long known due to the development of a pathognomonic cerebellar hamartoma (known as dysplastic gangliocytoma of the cerebellum or Lhermitte‐Duclos disease). Recently, a crucial role of the cerebellum has been highlighted in the pathogenesis of autism spectrum disorders, now recognised as a phenotype expressed in a variable percentage of PHTS children. In addition, rare PTEN variants are indeed identified in medulloblastoma as well, even if they are less frequent than other germline gene mutations. The importance of PTEN and its downstream signalling enzymatic pathways, PI3K/AKT/mTOR, has been studied at different levels in both human clinical settings and animal models, not only leading to a better understanding of the pathogenesis of different disorders but, most importantly, to identify potential targets for specific therapies. In particular, PTEN integrity makes an important contribution to the normal development of tissue architecture in the nervous system, including the cerebellum. Thus, in patients with PTEN germline mutations, the cerebellum is an affected organ that is increasingly recognised in different disorders, whereas, in animal models, cerebellar Pten loss causes a variety of functional and histological alterations. In this review, we summarise the range of cerebellar involvement observed in PHTS and its relationships with germline PTEN mutations, along with the phenotypes expressed by murine models with PTEN deficiency in cerebellar tissue. PTEN hamartoma tumour syndrome (PHTS), due to an inherited PTEN pathogenetic variant, is characterised by macrocephaly, multiple hamartomas and an increased risk of cancer. In this review, we focused on the different phenotypes that involve the cerebellum in PHTS patients. Specifically, dysplastic gangliocytoma of the cerebellum, also known as Lhermitte–Duclos disease, is a pathognomonic finding of PHTS, and autism spectrum disorders affect young patients. Furthermore, we reviewed pathological changes induced by cerebellar PTEN loss in both humans and animal models. [ABSTRACT FROM AUTHOR]

Copyright of Revista Fatec Zona Sul (REFAS) is the property of Revista Fatec Zona Sul (REFAS) and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

To review current and past applications of brain-computer interfaces in combination with augmented or virtual reality technologies in the intervention of Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder, we reviewed the related literature during the past 13 years. The literature review was categorized based on the focus of the studies. While more investigation is needed to thoroughly investigate the results and impact of these experiments, it has been shown that the experiments tested in the literature are mostly successful in intervention and diagnosis. We discuss relevant observations that may help future studies and inspire collaboration among researchers and partitioners in the field. [ABSTRACT FROM AUTHOR]

Background: Paediatric neurodevelopmental disorders, including autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), intellectual disability (ID), and specific learning disabilities (SLD), present a growing healthcare challenge globally. This study, conducted at a tertiary care hospital in India, aims to explore the utility of neuroimaging techniques in understanding the structural and functional abnormalities associated with these disorders, considering the unique demographic and healthcare landscape of India. Methods: A multidisciplinary team collaborated in a cross-sectional observational study involving paediatric patients diagnosed with neurodevelopmental disorders. State-of-the-art magnetic resonance imaging (MRI) and functional MRI (fMRI) were employed. Participants underwent clinical assessments, and neuroimaging data were analyzed for structural and functional abnormalities. Advanced techniques such as diffusion tensor imaging (DTI) were utilized to explore microstructural changes in white matter tracts. Results: Distinct neuroimaging patterns were observed in different neurodevelopmental disorders. Structural abnormalities were prominent in ASD and ID, with nuanced variations in gray and white matter volumes. Functional connectivity abnormalities in ADHD were highlighted, emphasizing the involvement of attention and executive function networks. DTI revealed microstructural changes in white matter tracts, particularly in the prefrontal-striatal circuitry in ADHD and disruptions in interhemispheric communication in ASD. Conclusion: Our study contributes valuable insights into the neurobiological underpinnings of paediatric neurodevelopmental disorders, emphasizing the importance of neuroimaging for tailored diagnostic and therapeutic approaches. [ABSTRACT FROM AUTHOR]

Gestures are an important social communication skill that infants and toddlers use to convey their thoughts, ideas, and intentions. Research suggests that early gesture use has important downstream impacts on developmental processes, such as language learning. However, autistic children are more likely to have challenges in their gestural development. The current study expands upon previous literature on the differences in gesture use between young autistic and non‐autistic toddlers by collecting data using a parent‐report questionnaire called the MCDI–Words and Gestures at three time points, 12, 18, and 24 months of age. Results (N = 467) showed that high‐likelihood infants who later met diagnostic criteria for ASD (n = 73 HL‐ASD) have attenuated gesture growth from 12 to 24 months for both deictic gestures and symbolic gestures when compared to high‐likelihood infants who later did not meet criteria for ASD (n = 249 HL‐Neg) and low‐likelihood infants who did not meet criteria for ASD (n = 145 LL‐Neg). Other social communicative skills, like play behaviors and imitation, were also found to be impacted in young autistic children when compared to their non‐autistic peers. Understanding early differences in social communication growth before a formal autism diagnosis can provide important insights for early intervention. Lay Summary: As infants learn to talk, they use gestures to communicate. In this study, we used a parent‐report questionnaire to look at the group level differences of gestures in the first 2 years of life by comparing infants who later developed autism to infants who did not develop autism. We found that infants who later developed autism have fewer gestures and a slower rate of gesture growth compared to infants who did not develop autism. Play behaviors and imitation skills were also impacted in young autistic children when compared to their non‐autistic peers. [ABSTRACT FROM AUTHOR]

Background: There is a decremental trend seen in parental play in recent times, and there is a mounting trend in screen exposure in children. This changing trend in parental play and screen time exposure may affect child social and communication domains. Objective: To assess the impact of screen time and parental play in children with autism spectrum disorder. Methodology: This is a comparative cross sectional study with a sample of 60 children. Thirty children of age group 2-6 years diagnosed with Autism Spectrum Disorder as per DSM-5 (Diagnostic and Statistical Manual of Mental Disorders) attending child guidance Clinic, Government Hospital for Mental care were included in the study. The Parental Play Questionnaire assessed parental play in children. The Digital Screen Exposure Questionnaire (DSEQ) evaluated child screen time exposure. The severity of ASD was assessed by using the CARS scale. Results: Out of thirty samples with Autism spectrum disorder (ASD), 60% of children had moderate ASD, while 20% accounted for mild and severe ASD. Nearly 53.3% of ASD children had a frequency of watching smartphones more than 5 times a week with an average duration of more than 2 hours a day. In contrast, in normal children, only 6.7% have such frequency and an average time of watching smartphones less than 1 hour, significant with a p-value of <0.001. Among the ASD group, 80% of children had active physical parent-child play frequency of less than twice a week. In normal children, about 60% had a frequency of parent-child play several times daily. (p-value <0.001). About 66.7% of ASD children never had to pretend play, and 30% had pretend play once a week. Conclusion: The result showed significantly higher screen time exposure and lack of parental play in children with ASD than in normal children. The need of this digital era is mounting concern about reducing screen time exposure and increasing parental play in childhood. [ABSTRACT FROM AUTHOR]

Two neurodevelopmental conditions, autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD), have been associated with executive function (EF) impairments but the specificity of their impairments is still controversial. The present meta-analysis aimed to identify the differences in EF profiles of ASD, ADHD, and ASD+ADHD in relation to a control group of individuals with typical development (TD) and to understand whether the EF performance could change depending upon the type of measure used to assess EF (performance tests vs. questionnaires). Results from 36 eligible studies revealed that ADHD and ASD showed more difficulties than the TD group in tests and, particularly, in questionnaires. No significant differences in the EF profile emerged between ASD and ADHD when assessed through neuropsychological tests (d = 0.02), while significant differences emerged when assessed through questionnaires, with ADHD having higher ratings than ASD (d = −0.34). EF questionnaires and neuropsychological tests may catch two different constructs of EF, with the former being more predictive of everyday life EF impairments. The comparison between the double diagnosis group (ADHD+ASD) and the clinical groups pointed out that the former has a more similar EF profile to the ADHD-alone one and that it shows more difficulties than ASD-alone. [ABSTRACT FROM AUTHOR]

BackgroundMethodResultsConclusionsAdults with intellectual disability (ID) are at high risk of exhibiting challenging behaviors, especially those with autism spectrum disorder (ASD). There are clinical and transdiagnostic variables that are largely related to the existence of these behaviors, and it is necessary to know the particularities of their role in people with ASD and ID relative to those without ASD.Eighty adults with ID and 83 with an additional ASD diagnosis participated in the study. We analyzed answers provided by their therapists to different measures of challenging behavior.For the ASD population, emotional reactivity stood out as a predictor of self-injury, aggression and stereotypy. In the non-ASD group, the role of executive functioning and working memory were significant predictors of aggression and stereotypy was significant.Interventions aimed at the reduction of challenging behaviors in adults with ID should consider these variables to adjust to the needs of these individuals, mainly from a preventive perspective. [ABSTRACT FROM AUTHOR]

Background: Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder caused by SHANK3 haploinsufficiency with clinical manifestations that can be devastating and profoundly affect quality of life. Results: The Externally Led Patient-Focused Drug Development (EL-PFDD) meeting was an opportunity for families affected by PMS to share with the Food and Drug Administration (FDA) how symptoms impact their lives and how treatments could be most meaningful. The Voice of the Patient report serves as a summary of this meeting to influence upcoming drug development and clinical trials. The purpose of this report is to provide a clinical perspective on the results of the EL-PFDD meeting to amplify the voice of these caregivers to the scientific community. Conclusions: Caregivers prioritize an improved quality of life for their loved ones characterized by improved cognitive function, improved communication, increased independence, and reduced risk of regression. With these caregiver priorities in mind, this report provides the FDA and the scientific community with a clear understanding of which aspects of PMS should influence the development of future therapeutics. [ABSTRACT FROM AUTHOR]

The early diagnosis of autism spectrum disorder (ASD) encounters challenges stemming from domain variations in facial image datasets. This study investigates the potential of active learning, particularly uncertainty-based sampling, for domain adaptation in early ASD diagnosis. Our focus is on improving model performance across diverse data sources. Utilizing the Kaggle ASD and YTUIA datasets, we meticulously analyze domain variations and assess transfer learning and active learning methodologies. Two state-of-the-art convolutional neural networks, Xception and ResNet50V2, pretrained on distinct datasets, demonstrate noteworthy accuracies of 95% on Kaggle ASD and 96% on YTUIA, respectively. However, combining datasets results in a modest decline in average accuracy, underscoring the necessity for effective domain adaptation techniques. We employ uncertainty-based active learning to address this, which significantly mitigates the accuracy drop. Xception and ResNet50V2 achieve 80% and 79% accuracy when pretrained on Kaggle ASD and applying active learning on YTUIA, respectively. Our findings highlight the efficacy of uncertainty-based active learning for domain adaptation, showcasing its potential to enhance accuracy and reduce annotation needs in early ASD diagnosis. This study contributes to the growing body of literature on ASD diagnosis methodologies. Future research should delve deeper into refining active learning strategies, ultimately paving the way for more robust and efficient ASD detection tools across diverse datasets. [ABSTRACT FROM AUTHOR]

Introduction: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by a higher prevalence in male than in female participants. Recent studies have hypothesized the presence of different phenotypes in male and female participants with ASD. The present study aims to assess possible sex differences in cognitive and adaptive functioning, symptomatology of ASD, and psychopathological comorbidities in a large sample of children and adolescents with ASD. Methods: The study included a total of 2,146 children and adolescents diagnosed with ASD, comprising 1785 boys (mean age 7.12 ± 3.69 years) and 361 girls (mean age 6.25 ± 3.30 years). The age of the participants ranged from 1.35 to 19.05 years (mean age 9.98 ± 3.64). The study sought to include all children and adolescents diagnosed with Autism or ASD. Results: Present results showed that girls with ASD had lower IQs than boys but similar adaptive functioning. The severity of symptoms of ASD was greater in boys than in girls, as were scores on psychopathological measures. With increasing age, boys with ASD showed greater impairment in social communication skills than girls and increased psychopathological comorbidities. Older girls showed fewer restricted and repetitive behaviors. Discussion: Exploring phenotypic differences in children and adolescents with ASD fosters an understanding of subtle diagnostic facets that may go unrecognized, allowing for increasingly individualized and tailored interventions. [ABSTRACT FROM AUTHOR]

UBE3A is a common genetic factor in ASD etiology, and transgenic mice overexpressing UBE3A exhibit typical autistic-like behaviors. Because AMPA receptors (AMPARs) mediate most of the excitatory synaptic transmission in the brain, and synaptic dysregulation is considered one of the primary cellular mechanisms in ASD pathology, we investigate here the involvement of AMPARs in UBE3A-dependent ASD. We show that expression of the AMPAR GluA1 subunit is decreased in UBE3A-overexpressing mice, and that AMPAR-mediated neuronal activity is reduced. GluA1 mRNA is trapped in the nucleus of UBE3A-overexpressing neurons, suppressing GluA1 protein synthesis. Also, SARNP, an mRNA nuclear export protein, is downregulated in UBE3A-overexpressing neurons, causing GluA1 mRNA nuclear retention. Restoring SARNP levels not only rescues GluA1 mRNA localization and protein expression, but also normalizes neuronal activity and autistic behaviors in mice overexpressing UBE3A. These findings indicate that SARNP plays a crucial role in the cellular and behavioral phenotypes of UBE3A-induced ASD by regulating nuclear mRNA trafficking and protein translation of a key AMPAR subunit. Synopsis: Downregulation of SARNP, an mRNA nuclear export factor, leads to GluA1 mRNA nuclear retention in mice with UBE3A-dependent autistic-like behavior. This decreases GluA1 protein synthesis and AMPAR synaptic currents and promotes autistic behaviors. AMPA receptor expression and synaptic localization are downregulated in UBE3A-overexpressing ASD mice. GluA1 mRNA is retained in the nuclei of UBE3A-overexpressing neurons, suppressing GluA1 protein synthesis. SARNP, an mRNA nuclear export protein, is reduced in UBE3A-overexpressing neurons. Restoring SARNP rescues AMPAR expression, neuronal activity, and autistic behaviors in UBE3A-dependent ASD mice. Downregulation of SARNP, an mRNA nuclear export factor, leads to GluA1 mRNA nuclear retention in mice with UBE3A-dependent autistic-like behavior. This decreases GluA1 protein synthesis and AMPAR synaptic currents and promotes autistic behaviors. [ABSTRACT FROM AUTHOR]

Background: Thousand and one amino-acid kinase 1 (TAOK1) encodes the MAP3K protein kinase TAO1, which has recently been displayed to be essential for neuronal maturation and cortical differentiation during early brain development. Heterozygous variants in TAOK1 have been reported in children with neurodevelopmental disorders, with or without macrocephaly, hypotonia and mild dysmorphic traits. Literature reports lack evidence of neuronal migration disorders in TAOK1 patients, although studies in animal models suggest this possibility. Case presentation: We provide a clinical description of a child with a neurodevelopmental disorder due to a novel TAOK1 truncating variant, whose brain magnetic resonance imaging displays periventricular nodular heterotopia. Conclusions: To our knowledge, this is the first report of a neuronal migration disorder in a patient with a TAOK1-related neurodevelopmental disorder, thus supporting the hypothesized pathogenic mechanisms of TAOK1 defects. [ABSTRACT FROM AUTHOR]

Introduction: The unprecedented impact of the coronavirus pandemic (COVID- 19) has had profound implications on the ASD community, including disrupting daily life, increasing stress and emotional dysregulation in autistic children, and worsening individual and family well-being. Methods: This study used quantitative and qualitative survey data from parents in Qatar (n=271), to understand the impact of the COVID-19 pandemic on autistic children and their families in Qatar. The questionnaire was a combination of open-ended (qualitative) and closed-ended (quantitative) questions to explore patterns in the experiences of the different families, as well as to contrive themes. The survey was created in a way to evaluate the psychological, academic/ intervention, economic, and other impacts of the pandemic related measures on a sample of multicultural families residing in the State of Qatar during the peak period of confinement and physical distancing in 2020. Data acquisition involved the utilization of Google Forms. Subsequent quantitative analysis employed the SPSS software and chi-square analysis for numerical examination, enabling the characterization of the studied population and exploration of associations between parental stress levels and variables such as employment status, therapy accessibility, presence of hired assistance, and alterations in their childs skills. Concurrently, qualitative data from written responses underwent thorough categorization, encompassing themes such as emotional isolation, mental or financial challenges, and difficulties in obtaining support. Results: Parents expressed distress and disturbance in their daily lives, including profound disruptions to their childrens access to treatment, education, and activities. Most parents reported deteriorations in their childrens sleep (69.4%), behavioral regulation (52.8%), and acquired skills across multiple domains (54.2%). Parents also reported decreased access to family and social support networks, as well as decreased quality of clinical and community support. Qualitative analysis of parental responses revealed that child developmental regression was an important source of parental stress. Discussion and conclusion: The greater impact of the pandemic on autistic children and their families emphasizes the need for accessible and affordable health, education, and family services to manage their special needs. [ABSTRACT FROM AUTHOR]