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.

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.

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.

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.

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.
OBJECTIVE:  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.
METHODS:  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.
CONCLUSIONS:  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.

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.

This preliminary study sought to assess biomarkers of attention using electroencephalography (EEG) and eye tracking in two ultra-rare monogenic populations associated with autism spectrum disorder (ASD). Relative to idiopathic ASD (n = 12) and neurotypical comparison (n = 49) groups, divergent attention profiles were observed for the monogenic groups, such that individuals with DYRK1A (n = 9) exhibited diminished auditory attention condition differences during an oddball EEG paradigm whereas individuals with SCN2A (n = 5) exhibited diminished visual attention condition differences noted by eye gaze tracking when viewing social interactions. Findings provide initial support for alignment of auditory and visual attention markers in idiopathic ASD and neurotypical development but not monogenic groups. These results support ongoing efforts to develop translational ASD biomarkers within the attention domain.

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.

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.
CONCLUSIONS: These findings may inform future interventions targeting auditory and language impairments in ASD population.

[This corrects the article DOI: 10.3389/fncel.2023.1226580.].