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This study had two aims. First, we aimed to investigate the prevalence of ACB, PCB, and oral habits among a group of Albanian children with ASD compared with a group of children without ASD. Second, we aimed to identify the associations of ASD with ACB, PCB, and oral habits. The sample inlcuded 125 children with ASD (91 males, 34 females) from 2 special schools for children with disabilities and 2 daily residential centers in Tirana. The control group included 125 children without ASD. The relationships between categorical variables were evaluated via the chi-square test. To identify the potential risk factors for ASD, we performed binary logistic regression. No statistically significant differences were found for CB or oral habits between the primary and adolescent dentition stages. A comparison of children with ASD with CB and oral habits revealed a significant difference in the prevalence of PCB. Binary logistic regression revealed that ACB, PCB and oral habits were not associated with ASD. CB was more prevalent among children with ASD in the primary and mixed dentition stages. Oral habits were more prevalent in the mixed and adolescent dentition stages. However, ASD is not a risk factor for CB or other oral habits.
Subject(s)
Autistic Disorder , Humans , Male , Female , Child , Albania/epidemiology , Adolescent , Prevalence , Autistic Disorder/epidemiology , Risk Factors , Child, Preschool , Malocclusion/epidemiology , Autism Spectrum Disorder/epidemiology , Dentition, Mixed , HabitsABSTRACT
Autism is a neurodevelopmental disorder that manifests in individuals during childhood and has enduring consequences for their social interactions and communication. The prediction of Autism Spectrum Disorder (ASD) in individuals based on the differences in brain networks and activities have been studied extensively in the recent past, however, with lower accuracies. Therefore in this research, identification at the early stage through computer-aided algorithms to differentiate between ASD and TD patients is proposed. In order to identify features, a Multi-Layer Perceptron (MLP) model is developed which utilizes logistic regression on characteristics extracted from connectivity matrices of subjects derived from fMRI images. The features that significantly contribute to the classification of individuals as having Autism Spectrum Disorder (ASD) or typically developing (TD) are identified by the logistic regression model. To enhance emphasis on essential attributes, an AND operation is integrated. This involves selecting features demonstrating statistical significance across diverse logistic regression analyses conducted on various random distributions. The iterative approach contributes to a comprehensive understanding of relevant features for accurate classification. By implementing this methodology, the estimation of feature importance became more dependable, and the potential for overfitting is moderated through the evaluation of model performance on various subsets of data. It is observed from the experimentation that the highly correlated Left Lateral Occipital Cortex and Right Lateral Occipital Cortex ROIs are only found in ASD. Also, it is noticed that the highly correlated Left Cerebellum Tonsil and Right Cerebellum Tonsil are only found in TD participants. Among the MLP classifier, a recall of 82.61 % is achieved followed by Logistic Regression with an accuracy of 72.46 %. MLP also stands out with a commendable accuracy of 83.57 % and AUC of 0.978.
Subject(s)
Autism Spectrum Disorder , Magnetic Resonance Imaging , Humans , Autism Spectrum Disorder/diagnostic imaging , Autism Spectrum Disorder/physiopathology , Magnetic Resonance Imaging/methods , Male , Female , Brain/diagnostic imaging , Brain/physiopathology , Adolescent , Child , Adult , Young Adult , AlgorithmsABSTRACT
Accumulating evidence proves that children with autism have gastrointestinal problems. However, a significant difference in gut microbiota (GM) exists between autistic and non-autistic children. These changes in the GM may stem from several factors. Recently, researchers focused on nutritional factors, especially vitamin deficiency. Thus, our systematic review investigates the connections among autism, GM alterations, and vitamin A deficiency (VAD), by analyzing studies sourced from PubMed and Embase databases spanning from 2010 to 2022. Adhering to PRISMA guidelines, we meticulously selected 19 pertinent studies that established links between autism and GM changes or between autism and VAD. Our findings uniformly point to significant alterations in the GM of individuals with autism, indicating these changes as promising biomarkers for the disorder. Despite the consistent association of GM alterations with autism, our analysis revealed no notable differences in GM composition between individuals with autism and those experiencing VAD. This suggests that VAD, especially when encountered early in life, might play a role in the onset of autism. Furthermore, our review underscores a distinct correlation between reduced levels of retinoic acid in children with autism, a disparity that could relate to the severity of autism symptoms. The implications of our findings are twofold: they not only reinforce the significance of GM alterations as potential diagnostic markers but also spotlight the critical need for further research into nutritional interventions. Specifically, vitamin A supplementation emerges as a promising avenue for alleviating autism symptoms, warranting deeper investigation into its therapeutic potential.
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Autism spectrum disorder (ASD) is a neurodevelopmental disorder; the prevalence of which has been on the rise with unknown causes. Alterations in the gut-brain axis have been widely recognized in ASD patients, and probiotics are considered to potentially benefit the rescuing of autism-like behaviors. However, the effectiveness and mechanisms of multiple probiotics on zebrafish models are still not clearly revealed. This study aims to use the germ-free (GF) and conventionally raised (CR) AB wild-type zebrafish and the mutant Tbr1b-/- and Katnal2-/- lines as human-linked ASD animal models to evaluate the effects of multiple probiotics on mitigating developmental and behavioral defects. Results showed that the addition of probiotics increased the basic important developmental indexes, such as body length, weight, and survival rate of treated zebrafish. Moreover, the Lactobacillus plantarum and Lactobacillus rhamnosus affected the behavior of CR zebrafish by increasing their mobility, lowering the GF zebrafish manic, and mitigating transgenic zebrafish abnormal behavior. Moreover, the expression levels of key genes related to gamma-aminobutyric acid (GABA), dopamine (DA), and serotonin (5-HT) as important neuropathways to influence the appearance and development of autism-related disorders, including gad1b, tph1a, htr3a, th, and slc6a3, were significantly activated by some of the probiotics' treatment at some extent. Taken together, this study indicates the beneficial effects of different probiotics, which may provide a novel understanding of probiotic function in related diseases' therapy.
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BACKGROUND: Caring for a child with autism spectrum disorder (ASD) is a challenging and stressful task, especially in countries with limited resources. Additional research is necessary, considering the increasing prevalence of children with ASD, to gain increased knowledge of the complex difficulties faced by caregivers of ASD children and to offer insights into the coping strategies and support networks that parents utilise. OBJECTIVES: The objective of this study was to explore and describe the experiences and coping mechanisms of caregivers of children with ASD in Dr Kenneth Kaunda district, North West province, South Africa. METHOD: Qualitative explorative, contextual and descriptive design with purposive sampling technique and semi-structured interviews were conducted. Data were analysed following the six steps of reflexive thematic analysis. RESULTS: Two themes were identified: Caregivers' experiences in raising a child with autism, and caregivers' coping in raising a child with autism. CONCLUSION: The research established caregivers' experiences and coping mechanisms in raising a child with ASD and the effects on different aspects of their lives including emotional, social and financial aspects, which contribute negatively to their holistic well-being. These impediments warrant the establishment of emotional support groups, empowerment of caregivers and awareness-raising through campaigns to educate the family and the community on the diverse challenges.Contribution: The findings of this study contribute to a deeper understanding of the multifaceted challenges faced by caregivers of children with ASD and provide insights into the support systems and coping mechanisms employed by these caregivers within the socio-ecological context.
Subject(s)
Adaptation, Psychological , Autism Spectrum Disorder , Caregivers , Qualitative Research , Humans , Autism Spectrum Disorder/psychology , Autism Spectrum Disorder/nursing , Autism Spectrum Disorder/complications , Caregivers/psychology , Caregivers/statistics & numerical data , South Africa , Female , Male , Adult , Child , Middle Aged , Interviews as Topic/methods , Child, PreschoolABSTRACT
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with rising prevalence, necessitating early diagnosis and intervention. This case report examines the clinical diagnosis approach of ASD in children under two years, emphasizing motor developmental delay, chromosome 19 mutations, prematurity, macrocephaly, and false-negative Modified Checklist for Autism in Toddlers (MCHAT) results. This study identifies gross motor delays as a potential key indicator in the diagnosis of ASD, as all five cases (Patients A, B, C, D, and E) were observed to have such deficits. Two cases (Patients A and B) initially had negative MCHAT results but were later diagnosed with ASD. Patients C and E both had a chromosome 19 abnormality. Patient E had macrocephaly and an amino acid metabolism disorder. ASD atypical behaviors like hand flapping, wringing, and twirling were also noted. Our systematic review validated the key findings presented in this study, unveiling a consistent pattern throughout the existing literature about ASD diagnoses and the associated misconceptions. These cases highlight the significance of early motor delay, genetic factors, and the limitations of MCHAT in early ASD diagnosis. This case report underscores the need for improved screening tools, genetic investigations, and comprehensive assessments to enhance early detection and intervention for ASD. Early identification and personalized interventions hold a promise to improve the outcomes and quality of life for children with autism.
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It is the current consensus amongst the psychiatric community that children undergoing evaluation for developmental delays and/or autism spectrum disorder (ASD) should be offered genetic testing early in the diagnostic process. Identifying genetic abnormalities can provide insight into patient prognosis and may reveal other medical complications that could arise throughout a patient's life. Despite these recognized benefits, genetic testing is often delayed or not offered and therefore deprives families of valuable knowledge about their child's future health outcomes. We present a case of a six-year-old patient who presented to our child and adolescent psychiatry office for behavioral concerns. She had received an ASD diagnosis years prior to presentation, but for unknown reasons, genetic testing had never been pursued. Genetic testing was obtained in our office, and the results revealed three different mutations that were linked to ASD and various other medical complications including epilepsy. With this knowledge, the patient's family gained important insight into their child's prognosis. This case highlights the necessity for adopting a point-of-care testing (POCT) model when evaluating children with developmental delays and/or ASD. Through this model, genetic testing would be offered to families during the initial visit for these patients. This would help streamline this process and allow for more widespread detection of genetic disorders linked to ASD and coexisting medical sequelae. Having this knowledge would empower families with a better understanding of their child's condition and would allow families to work together with providers to determine the best possible treatment plan.
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This literature review aims to explore religiosity, faith, and related beliefs in autistic adolescents. The term religiosity was used interchangeably with various related concepts such as faith, spirituality, and religious beliefs, and a broader, multifaceted approach encompassing the cognitive, subjective, social, cultural, and emotional domains of religiosity is analyzed in this population subgroup. In alignment with the neurodiversity paradigm, this review endeavors to adopt an inclusive lens toward autism spectrum conditions, appreciating the spectrum of cognitive and behavioral differences and highlighting the importance of recognizing strengths and challenges alike, reflecting the nuanced discourse surrounding neurodiversity and autism spectrum conditions. However, terms such as "high-functioning autism" and "disorder" were used where needed to reflect the journals included in the review. A systematic search was conducted by accessing academic search engines such as APA PsycInfo, APA PsycArticles, APA PsycTests, and PubMed. Only peer-reviewed articles written in English and performed on human subjects were included using strict inclusion and exclusion criteria. Several recurring themes were identified from the 13 articles selected after review for relevance and quality. The most important finding was the association of different terminologies and features while exploring "religiosity in autism." Thirty-nine key themes were identified, which were grouped into six major themes. These were religious faith, spirituality, and its expression in autistic adolescents; religious behaviors and practices of autistic adolescents; cognition and religion in autistic teens; social and cultural influences on religiosity in autistic young ones; parents' and carers' influence, perspectives, and experiences about faith and spirituality on autistic adolescents; and perceived benefits of faith to autistic teens: parents and adolescent perspectives. Looking at the concept of religiosity and spirituality as a whole, it can be inferred from the available research included in this review that religiosity (cognitive abilities, behaviors, and experiences) in a subset of autistic adolescents (high-functioning autism) might not be significantly subdued as compared to neurotypical adolescents. However, there is not enough research to conclude the same or the opposite for autistic adolescents in general. When found, reserved religiosity could be attributed to a plethora of factors, and decreased mental ability or mentalization, empathy, or imagination did not seem to be the sole or primary predictors or contributors to religiosity. The role of culture, parents, carers, and religious affiliations was significant and might be a stronger contributor to religiosity and its expression than other previously argued predictors like mentalization. Many autistic teens and their carers regard religiosity and spirituality as essential domains in their and their children's lives, want their children to be given opportunities to be a part of religious groups and affiliations, and look forward to government, religious, and healthcare authorities actively supporting them in this domain. The findings call for policymakers, religious leaders, and stakeholders to devise strategies for inclusion and support for autistic adolescents. The possible role of religion as a resource and coping strategy for these children and their families is worth exploring.
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AIMS: Cytoplasmic dynein heavy chain (DYNC1H1) is a multi-subunit protein complex that provides motor force for movement of cargo on microtubules and traffics them back to the soma. In humans, mutations along the DYNC1H1 gene result in intellectual disabilities, cognitive delays, and neurologic and motor deficits. The aim of the study was to generate a mouse model to a newly identified de novo heterozygous DYNC1H1 mutation, within a functional ATPase domain (c9052C > T(P3018S)), identified in a child with motor deficits, and intellectual disabilities. RESULTS: P3018S heterozygous (HET) knockin mice are viable; homozygotes are lethal. Metabolic and EchoMRI™ testing show that HET mice have a higher metabolic rate, are more active, and have less body fat compared to wildtype mice. Neurobehavioral studies show that HET mice perform worse when traversing elevated balance beams, and on the negative geotaxis test. Immunofluorescent staining shows neuronal migration abnormalities in the dorsal and lateral neocortex with heterotopia in layer I. Neuron-subtype specific transcription factors CUX1 and CTGF identified neurons from layers II/III and VI respectively in cortical layer I, and abnormal pyramidal neurons with MAP2+ dendrites projecting downward from the pial surface. CONCLUSION: The HET mice are a good model for the motor deficits seen in the child, and highlights the importance of cytoplasmic dynein in the maintenance of cortical function and dendritic orientation relative to the pial surface. Our results are discussed in the context of other dynein mutant mice and in relation to clinical presentation in humans with DYNC1H1 mutations.
Subject(s)
Cytoplasmic Dyneins , Mutation , Animals , Cytoplasmic Dyneins/genetics , Cytoplasmic Dyneins/metabolism , Mice , Mutation/genetics , Humans , Brain/metabolism , Brain/pathology , Disease Models, Animal , Mice, Transgenic , Male , Intellectual Disability/genetics , Neurons/metabolism , Neurons/pathologyABSTRACT
BACKGROUND: Socio-communicative difficulties are a core symptom of autism that deeply impact interaction with others. Despite that, research on bidirectional caregiver-child interaction variables has been notably scant and predominantly focused on autistic children's interactive differences and the consequences on parenting behaviors. AIM: The study aimed to assess parent-child interaction in the context of autism through observational validated instruments that consider qualitative and structural features in a complementary way to obtain a comprehensive characterization of the exchange within the dyad. METHODS AND PROCEDURES: This study involved 56 paired parent-child dyads of 28 autistic children (mean age = 38.60 months, sd = 9.50) playing with their mothers and their fathers for 10 min. The video-recorded sessions were coded through the Emotional Availability Scales (EAS) and the Interpersonal Synchrony (IS) coding system. OUTCOMES AND RESULTS: Fathers and mothers do not show significant differences in ISexcept for mother widenings, which are more frequent and successful, and in Emotional Availability. Further, dyads present moderate levels of Emotional Availability, indicating that parents may struggle with structuring, sensitivity, and interactive abilities with their autistic children, which in turn present low levels of responsiveness and involvement. Further, we explored an association between IS and EA characteristics. CONCLUSION AND IMPLICATIONS: This study suggests the need for interventions to target interaction considering both caregivers, ultimately targeting both interaction structure and affect features. Research that includes fathers fosters strategies for individualization and treatment optimization.
Subject(s)
Fathers , Humans , Male , Female , Child, Preschool , Adult , Fathers/psychology , Autistic Disorder/psychology , Mothers/psychology , Father-Child Relations , Parenting/psychology , Child , Emotions/physiology , Mother-Child Relations , Play and PlaythingsABSTRACT
OBJECTIVE: Some studies have hypothesized that atypical neural synchronization at the delta frequency band in the auditory cortex is associated with phonological and language skills in children with Autism Spectrum Disorder (ASD), but it is still poorly understood. This study investigated this neural activity and addressed the relationships between auditory response and behavioral measures of children with ASD. METHODS: We used magnetoencephalography and individual brain models to investigate 2 Hz Auditory Steady-State Response (ASSR) in 20 primary-school-aged children with ASD and 20 age-matched typically developing (TD) controls. RESULTS: First, we found a between-group difference in the localization of the auditory response, so as the topology of 2 Hz ASSR was more superior and posterior in TD children when comparing to children with ASD. Second, the power of 2 Hz ASSR was reduced in the ASD group. Finally, we observed a significant association between the amplitude of neural response and language skills in children with ASD. CONCLUSIONS: The study provided the evidence of reduced neural response in children with ASD and its relation to language skills. SIGNIFICANCE: These findings may inform future interventions targeting auditory and language impairments in ASD population.
Subject(s)
Auditory Cortex , Autism Spectrum Disorder , Evoked Potentials, Auditory , Magnetoencephalography , Humans , Autism Spectrum Disorder/physiopathology , Male , Auditory Cortex/physiopathology , Child , Female , Evoked Potentials, Auditory/physiology , Cortical Synchronization/physiology , Auditory Perception/physiology , Acoustic StimulationABSTRACT
The burden of autism spectrum disorder (ASD) is increasing worldwide with genetic, epigenetic, and environmental factors being possibly responsible for the observed epidemiological figures. In the setting of environmental exposure, the city of Taranto, in Southern Italy, represents an interesting case study as it hosts well inside the city one of the biggest steel plants in Europe. This is a cross-sectional ecological study carried out in the year 2020 in the province of Taranto designed to estimate the burden of ASD in the municipalities of Taranto and Statte, classified as high environmental risk areas (Contaminated Site of National Interest-SIN), compared to the other 27 municipalities of the same province. Differences have been evaluated using the Chi Square Test. Children aged 6-11 years identified in SIN municipalities had a statistically significant higher prevalence of ASD than children of other municipalities (9.58 vs. 6.66/1000 respectively, p = 0.002). No statistically significant difference was observed for the 12-18 years group (3.41 vs. 2.54/1000, p = 0.12). The findings observed in this study are suggestive of the association between urban residential proximity to industrial facilities emitting air pollutants and higher ASD prevalence.
Subject(s)
Autism Spectrum Disorder , Environmental Exposure , Humans , Autism Spectrum Disorder/epidemiology , Autism Spectrum Disorder/etiology , Child , Male , Female , Prevalence , Italy/epidemiology , Cross-Sectional Studies , Environmental Exposure/adverse effects , Adolescent , Air Pollutants/adverse effects , Air Pollutants/analysis , Air Pollution/adverse effects , Environmental Pollution/adverse effectsABSTRACT
Gaze abnormalities are well documented in infants at elevated risk for autism spectrum disorder (ASD). However, variations in experimental design and stimuli across studies have led to mixed results. The current meta-analysis aimed to identify which type of eye tracking task and stimulus are most effective at differentiating high-risk infants (siblings of children with ASD) who later meet diagnosis criteria from low-risk infants without familial autism. We synthesized 35 studies that used eye tracking to investigate gaze behavior in infants at high genetic risk for autism before 2 years of age. We found that stimulus features, regions of interest (ROIs) and study quality moderated effect sizes across studies. Overall, dynamic stimuli and socially-relevant regions in the social stimuli (i.e. the target and activity of characters' shared focus) reliably detected high-risk infants who later develop ASD. Attention disengagement task and stimuli depicting interactions between human and nonhuman characters could identify high-risk infants who later develop ASD and those who have autism-related symptoms but do not meet the diagnostic criteria as well. These findings provide sensitive and reliable early markers of ASD, which is helpful to develop objective and quantitative early autism screening and intervention tools.
Subject(s)
Autism Spectrum Disorder , Eye-Tracking Technology , Humans , Infant , Autism Spectrum Disorder/diagnosis , Autism Spectrum Disorder/physiopathology , Fixation, Ocular/physiologyABSTRACT
Accumulating evidence suggests that individuals with autism spectrum disorder (ASD) show impairments in using contextual priors to predict others' actions and make intention inference. Yet less is known about whether and how children with ASD acquire contextual priors during action observation and how contextual priors relate to their action prediction and intention inference. To form proper contextual priors, individuals need to observe the social scenes in a reliable manner and focus on socially relevant information. By employing a data-driven scan path method and areas of interest (AOI)-based analysis, the current study investigated how contextual priors would relate to action prediction and intention understanding in 4-to-9-year-old children with ASD (N = 56) and typically developing (TD) children (N = 50) during free viewing of dynamic social scenes with different intentions. Results showed that children with ASD exhibited higher intra-subject variability when scanning social scenes and reduced attention to socially relevant areas. Moreover, children with high-level action prediction and intention understanding showed lower intra-subject variability and increased attention to socially relevant areas. These findings suggest that altered fixation patterns might restrain children with ASD from acquiring proper contextual priors, which has cascading downstream effects on their action prediction and intention understanding.
Subject(s)
Attention , Autism Spectrum Disorder , Humans , Autism Spectrum Disorder/physiopathology , Autism Spectrum Disorder/psychology , Male , Female , Child , Attention/physiology , Child, Preschool , Intention , Social PerceptionABSTRACT
BACKGROUND: Research indicates that the deficits in social communication and the repetitive, restrictive behaviour of persons with Autistic Spectrum Disorder (ASD) can pose challenges to their functioning in different Quality of Life (QoL) domains, leading to lower levels of life satisfaction. Evidence also indicates that various social and family factors, such as the support received in the community/environment and the composition of the family, could impact the QoL of persons with ASD. AIM: To study the factors influencing the QoL of children with ASD in the Kingdom of Saudi Arabia (KSA) by investigating the perspectives of their parents. METHOD: Questionnaires were completed by 110 parents who had a child with ASD. The questionnaire included the 96-item KidsLife-ASD scale to capture parents' perspectives regarding the difficulties experienced by their child, the ASD support received by their families, and the QoL of the child. The data obtained from the questionnaire were statistically analysed using IBM SPSS software. RESULTS: The difficulties experienced by children with ASD and aspects of the support (services and interventions, and challenges) they receive are factors that influence the QoL of children with ASD in the KSA. Moreover, the number of children in the family, the birth order of child with ASD, and the severity of ASD symptoms are factors that influence parents' perceptions of their children's difficulties, family ASD support, and the child's QoL. CONCLUSIONS: Saudi parents who have one child with ASD believed that the QoL of their child was high and confirmed that the difficulties experienced by the child and the support received by the family were factors which influenced the QoL of a child with ASD.
Subject(s)
Autism Spectrum Disorder , Parents , Quality of Life , Humans , Quality of Life/psychology , Autism Spectrum Disorder/psychology , Parents/psychology , Saudi Arabia , Male , Female , Child , Surveys and Questionnaires , Adult , Birth Order/psychology , Social Support , Child, Preschool , AdolescentABSTRACT
Autism spectrum disorder (ASD) is primarily characterized by core deficits in social skills, communication, and cognition and by repetitive stereotyped behaviors. These manifestations are variable between individuals, and ASD pathogenesis is complex, with over a thousand implicated genes, many epigenetic factors, and multiple environmental influences. The mesolimbic dopamine (DA) mediated brain reward system is held to play a key role, but the rapidly expanding literature reveals intricate, nuanced signaling involving a wide array of mesolimbic loci, neurotransmitters and receptor subtypes, and neuronal variants. How altered DA signaling may constitute a downstream convergence of the manifold causal origins of ASD is not well understood. A clear working framework of ASD pathogenesis may help delineate common stages and potential diagnostic and interventional opportunities. Hence, we summarize the known natural history of ASD in the context of emerging data and perspectives to update ASD reward signaling. Then, against this backdrop, we proffer a provisional framework that organizes ASD pathogenesis into successive levels, including (1) genetic and epigenetic changes, (2) disrupted mesolimbic reward signaling pathways, (3) dysregulated neurotransmitter/DA signaling, and finally, (4) altered neurocognitive and social behavior and possible antagonist/agonist based ASD interventions. This subdivision of ASD into a logical progression of potentially addressable parts may help facilitate the rational formulation of diagnostics and targeted treatments.
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An autism-associated gene Shank3 encodes multiple splicing isoforms, Shank3a-f. We have recently reported that Shank3a/b-knockout mice were more susceptible to kainic acid-induced seizures than wild-type mice at 4 weeks of age. Little is known, however, about how the N-terminal and ankyrin repeat domains (NT-Ank) of Shank3a/b regulate multiple molecular signals in the developing brain. To explore the functional roles of Shank3a/b, we performed a mass spectrometry-based proteomic search for proteins interacting with GFP-tagged NT-Ank. In this study, NT-Ank was predicted to form a variety of complexes with a total of 348 proteins, in which RNA-binding (n = 102), spliceosome (n = 22), and ribosome-associated molecules (n = 9) were significantly enriched. Among them, an X-linked intellectual disability-associated protein, Nono, was identified as a NT-Ank-binding protein. Coimmunoprecipitation assays validated the interaction of Shank3 with Nono in the mouse brain. In agreement with these data, the thalamus of Shank3a/b-knockout mice aberrantly expressed splicing isoforms of autism-associated genes, Nrxn1 and Eif4G1, before and after seizures with kainic acid treatment. These data indicate that Shank3 interacts with multiple RNA-binding proteins in the postnatal brain, thereby regulating the homeostatic expression of splicing isoforms for autism-associated genes after birth.
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As the prevalence of autism spectrum disorder (ASD) increases, there is a growing need to develop physical activity interventions that address the behavioral challenges experienced by individuals with ASD. Physical education teachers have employed behavioral supports that add more structure and adapt the environment for individuals with ASD, which are associated with increased engagement for individuals with ASD during PE. The purpose of this study was to quantify motor engaged behaviors (i.e. motor appropriate (MA)), motor inappropriate (MI), motor supported (MS) during skill practice in 18 individuals with ASD (ages 7-19 years) participating in an adapted tennis program (ACEing Autism) using the Academic Learning Time in Physical Education (ALT-PE) instrument. Overall, the supports provided during the program may have enabled participants with ASD to spend more time in MA and MS than MI. Indeed, the participants spent over 50% of their time in MA during the program.
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Introduction It is widely recognized that the prevalence and diagnosis of autism spectrum disorder (ASD) are more common in males than in females. Despite this, there is a significant gap in the body of autism research that investigates gender differences for treatment effects of applied behavior analysis (ABA) across a variety of measured variables. This research aims to comprehensively evaluate gender distinctions concerning target behavioral objectives, goals, and deficit variables. Materials and methods This study analyzed retrospective data from 100 participants, including 89 juveniles and four adults, with seven cases lacking age documentation, who underwent a three-month ABA program from March 19 to June 11, 2023. The ABA program included various methodologies such as functional analysis, discrete trial training, mass trials, and naturalistic training. Data on outcome measures, including target behavioral proficiency, age, average trials to proficiency, average teaching days to proficiency, open behavioral objectives, and target trends, were collected using the "Catalyst" software (Catalyst Software Corporation, New York, NY). Participant demographics were summarized using statistical analyses for categorical (gender and race/ethnicity) and continuous variables (percentage of mastered behavioral objectives, age, average trials, average teaching days, open objectives, percentage of failed objectives during maintenance, percentage of objectives with upward, downward, and flat trends). These statistics included mean, standard deviation, median, and range and were analyzed inferentially using nine separate two-sample independent t-tests and corresponding effect sizes using Cohen's d. Results There were no statistically significant disparities based on gender (p > 0.05) across all nine variables examined: Percentage of Targets Mastered, Age, Average Trials to Mastery, Average Teaching Days to Mastery, Open Targets, Percentage of Targets Failed in Maintenance, Percentage of Targets Trending Up, Percentage of Targets Trending Down, and Percentage of Targets Trending Flat, and wide confidence intervals were detected. Conclusions Non-significant gender differences in response to ABA treatments regarding these nine behavioral goals, mastery, and deficit variables may be relevant. They suggest that ABA treatments could be equally beneficial for both male and female autistic individuals. These results should be interpreted cautiously. The general pattern observed, characterized by broad confidence intervals, carries a degree of statistical uncertainty, which may suggest substantial gender differences. These results might question the prevailing beliefs about the variation in treatment response based on gender. This could profoundly impact clinical practices, implying that healthcare professionals should not favor one gender over another when suggesting ABA therapies. Instead, the treatment advice should be tailored to each child's unique requirements and traits, regardless of gender. The investigators expect these results to encourage additional research in this field. Comprehending the elements that affect treatment response is vital for improving treatment results and customizing care.