1. Chandel S, Choudhary S, Sandhu VK. Recurrent catatonia in a patient with Schizophrenia and autism spectrum disorder. Ind Psychiatry J;2023 (Nov);32(Suppl 1):S289-s290.

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2. Chang X, Zhang Y, Chen X, Li S, Mei H, Xiao H, Ma X, Liu Z, Li R. Gut microbiome and serum amino acid metabolome alterations in autism spectrum disorder. Sci Rep;2024 (Feb 19);14(1):4037.

Gut microbiota and their metabolic products might play important roles in regulating the pathogenesis of autism spectrum disorder (ASD). The purpose of this study was to characterize gut microbiota and serum amino acid metabolome profiles in children with ASD. A non-randomized controlled study was carried out to analyze the alterations in the intestinal microbiota and their metabolites in patients with ASD (n = 30) compared with neurotypical controls (NC) (n = 30) by metagenomic sequencing to define the gut microbiota community and liquid chromatography/mass spectrometry (LC/MS) analysis to characterize the metabolite profiles. Compared with children in the NC group, those in the ASD group showed lower richness, higher evenness, and an altered microbial community structure. At the class level, Deinococci and Holophagae were significantly lower in children with ASD compared with TD. At the phylum level, Deinococcus-Thermus was significantly lower in children with ASD compared with TD. In addition, the functional properties (such as galactose metabolism) displayed significant differences between the ASD and NC groups. Five dominant altered species were identified and analyzed (LDA score > 2.0, P < 0.05), including Subdoligranulum, Faecalibacterium_praushitzii, Faecalibacterium, Veillonellaceae, and Rumminococcaceae. The peptides/nickel transport system was the main metabolic pathway involved in the differential species in the ASD group. Decreased ornithine levels and elevated valine levels may increase the risk of ASD through a metabolic pathway known as the nickel transport system. The microbial metabolism in diverse environments was negatively correlated with phascolarctobacterium succinatutens. Our study provides novel insights into compositional and functional alterations in the gut microbiome and metabolite profiles in ASD and the underlying mechanisms between metabolite and ASD.

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3. Dvornek NC, Sullivan C, Duncan JS, Gupta AR. Copy Number Variation Informs fMRI-based Prediction of Autism Spectrum Disorder. Mach Learn Clin Neuroimaging (2023);2023 (Oct);14312:133-142.

The multifactorial etiology of autism spectrum disorder (ASD) suggests that its study would benefit greatly from multimodal approaches that combine data from widely varying platforms, e.g., neuroimaging, genetics, and clinical characterization. Prior neuroimaging-genetic analyses often apply naive feature concatenation approaches in data-driven work or use the findings from one modality to guide posthoc analysis of another, missing the opportunity to analyze the paired multimodal data in a truly unified approach. In this paper, we develop a more integrative model for combining genetic, demographic, and neuroimaging data. Inspired by the influence of genotype on phenotype, we propose using an attention-based approach where the genetic data guides attention to neuroimaging features of importance for model prediction. The genetic data is derived from copy number variation parameters, while the neuroimaging data is from functional magnetic resonance imaging. We evaluate the proposed approach on ASD classification and severity prediction tasks, using a sex-balanced dataset of 228 ASD and typically developing subjects in a 10-fold cross-validation framework. We demonstrate that our attention-based model combining genetic information, demographic data, and functional magnetic resonance imaging results in superior prediction performance compared to other multimodal approaches.

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4. Isenstein EL, Freedman EG, Molholm S, Foxe JJ. Intact Somatosensory Temporal Sensitivity in Adults on the Autism Spectrum: A High-Density Electrophysiological Mapping Study Using the Mismatch Negativity (MMN) Sensory Memory Paradigm. bioRxiv;2024 (Feb 6)

Atypical reactivity to somatosensory inputs is common in autism spectrum disorder and carries considerable impact on downstream social communication and quality of life. While behavioral and survey work have established differences in the perception of somatosensory information, little has been done to elucidate the underlying neurophysiological processes that drive these characteristics. Here, we implemented a duration-based somatosensory mismatch negativity paradigm to examine the role of temporal sensitivity and sensory memory in the processing of vibrotactile information in autistic (n=30) and neurotypical (n=30) adults. To capture the variability in responses between groups across a range of duration discrepancies, we compared the electrophysiological responses to frequent standard vibrations (100 ms) and four infrequent deviant vibrations (115, 130, 145, and 160 ms). The same stimuli were used in a follow-up behavioral task to determine active detection of the infrequent vibrations. We found no differences between the two groups with regard to discrimination between standard and deviant vibrations, demonstrating comparable neurologic and behavioral temporal somatosensory perception. However, exploratory analyses yielded subtle differences in amplitude at the N1 and P220 time points. Together, these results indicate that the temporal mechanisms of somatosensory discrimination are conserved in adults on the autism spectrum, though more general somatosensory processing may be affected. We discuss these findings in the broader context of the MMN literature in autism, as well as the potential role of cortical maturity in somatosensory mechanisms.

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5. Johnston KJ, Hendricks MA, Pollack HA. Closing Gaps in Public Services for US Residents With Intellectual and Developmental Disabilities. JAMA Pediatr;2024 (Feb 19)

This Viewpoint describes existing public health and social service systems for persons with intellectual and developmental disabilities as they transition to adult care, barriers and opportunities faced in service access, and potential actions to narrow these gaps and enhance equity. eng

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6. Kurokawa S, Nomura K, Hosogane N, Nagasawa T, Kawade Y, Matsumoto Y, Morinaga S, Kaise Y, Higuchi A, Goto A, Inada N, Kodaira M, Kishimoto T. Reliability of Telepsychiatry Assessments Using the Attention-Deficit/Hyperactivity Disorder Rating Scale-IV for Children With Neurodevelopmental Disorders and Their Caregivers: Randomized Feasibility Study. J Med Internet Res;2024 (Feb 19);26:e51749.

BACKGROUND: Given the global shortage of child psychiatrists and barriers to specialized care, remote assessment is a promising alternative for diagnosing and managing attention-deficit/hyperactivity disorder (ADHD). However, only a few studies have validated the accuracy and acceptability of these remote methods. OBJECTIVE: This study aimed to test the agreement between remote and face-to-face assessments. METHODS: Patients aged between 6 and 17 years with confirmed Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition diagnoses of ADHD or autism spectrum disorder (ASD) were recruited from multiple institutions. In a randomized order, participants underwent 2 evaluations, face-to-face and remotely, with distinct evaluators administering the ADHD Rating Scale-IV (ADHD-RS-IV). Intraclass correlation coefficient (ICC) was used to assess the reliability of face-to-face and remote assessments. RESULTS: The participants included 74 Japanese children aged between 6 and 16 years who were primarily diagnosed with ADHD (43/74, 58%) or ASD (31/74, 42%). A total of 22 (30%) children were diagnosed with both conditions. The ADHD-RS-IV ICCs between face-to-face and remote assessments showed « substantial » agreement in the total ADHD-RS-IV score (ICC=0.769, 95% CI 0.654-0.849; P<.001) according to the Landis and Koch criteria. The ICC in patients with ADHD showed "almost perfect" agreement (ICC=0.816, 95% CI 0.683-0.897; P<.001), whereas in patients with ASD, it showed "substantial" agreement (ICC=0.674, 95% CI 0.420-0.831; P<.001), indicating the high reliability of both methods across both conditions. CONCLUSIONS: Our study validated the feasibility and reliability of remote ADHD testing, which has potential benefits such as reduced hospital visits and time-saving effects. Our results highlight the potential of telemedicine in resource-limited areas, clinical trials, and treatment evaluations, necessitating further studies to explore its broader application. TRIAL REGISTRATION: UMIN Clinical Trials Registry UMIN000039860; http://tinyurl.com/yp34x6kh.

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7. Lamanna J, Meldolesi J. Autism Spectrum Disorder: Brain Areas Involved, Neurobiological Mechanisms, Diagnoses and Therapies. Int J Mol Sci;2024 (Feb 19);25(4)

Autism spectrum disorder (ASD), affecting over 2% of the pre-school children population, includes an important fraction of the conditions accounting for the heterogeneity of autism. The disease was discovered 75 years ago, and the present review, based on critical evaluations of the recognized ASD studies from the beginning of 1990, has been further developed by the comparative analyses of the research and clinical reports, which have grown progressively in recent years up to late 2023. The tools necessary for the identification of the ASD disease and its related clinical pathologies are genetic and epigenetic mutations affected by the specific interaction with transcription factors and chromatin remodeling processes occurring within specific complexes of brain neurons. Most often, the ensuing effects induce the inhibition/excitation of synaptic structures sustained primarily, at dendritic fibers, by alterations of flat and spine response sites. These effects are relevant because synapses, established by specific interactions of neurons with glial cells, operate as early and key targets of ASD. The pathology of children is often suspected by parents and communities and then confirmed by ensuing experiences. The final diagnoses of children and mature patients are then completed by the combination of neuropsychological (cognitive) tests and electro-/magneto-encephalography studies developed in specialized centers. ASD comorbidities, induced by processes such as anxieties, depressions, hyperactivities, and sleep defects, interact with and reinforce other brain diseases, especially schizophrenia. Advanced therapies, prescribed to children and adult patients for the control of ASD symptoms and disease, are based on the combination of well-known brain drugs with classical tools of neurologic and psychiatric practice. Overall, this review reports and discusses the advanced knowledge about the biological and medical properties of ASD.

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8. Larsen JL, Hansson H, Bisgaard AM, Stahlhut M. Psychological aspects of being a parent of an individual with Rett syndrome: A scoping review. J Appl Res Intellect Disabil;2024 (Mar);37(2):e13188.

BACKGROUND: Rett syndrome (RTT) causes multiple disabilities with a lifelong need for substantial care, placing a tremendous lifelong responsibility on the parents. Parenting an individual with RTT can therefore be challenging. Research on the psychological aspects of parenting individuals with RTT is limited and unclear. We aimed to identify and map the existing literature on this subject. METHOD: A scoping review was conducted with systematic searches in PubMed, PsycINFO and CINAHL. RESULTS: Eighteen studies were included. Negative and positive psychological aspects were described with the majority focusing on the negative. Three factors seemed to especially affect the parents: severity of the diagnosis, time (increasing age of parents or individual with RTT; years of caretaking), work-status of the mother. CONCLUSIONS: Seemingly, parents are highly affected; however, the literature is scarce and has several gaps. Future research should include older parents, fathers, parents of individuals living in group homes, and positive aspects.

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9. Pineo T. Caring for hospitalized Autistic adults. J Hosp Med;2024 (Feb 19)

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10. Proctor KB, Volkert VM, Klin A, Vickery BP, Sharp WG. The Intersection of Autism Spectrum Disorder, Food Allergy, and Avoidant/Restrictive Food Intake Disorder: A Clinical Case Study. J Pediatr;2024 (Feb 16):113965.

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11. Sapiets SJ, Hastings RP, Totsika V. Correction: Predictors of Access to Early Support in Families of Children with Suspected or Diagnosed Developmental Disabilities in the United Kingdom. J Autism Dev Disord;2024 (Feb 19)

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12. Schimansky S, Jasim H, Pope L, Hinds P, Fernandez D, Choleva P, Dev Borman A, Sharples PM, Smallbone T, Atan D. Nutritional blindness from avoidant-restrictive food intake disorder – recommendations for the early diagnosis and multidisciplinary management of children at risk from restrictive eating. Arch Dis Child;2024 (Feb 19);109(3):181-187.

Avoidant-restrictive food intake disorder (ARFID) is an eating disorder characterised by limited consumption or the avoidance of certain foods, leading to the persistent failure to meet the individual’s nutritional and/or energy needs. The disordered eating is not explained by the lack of available food or cultural beliefs. ARFID is often associated with a heightened sensitivity to the sensory features of different types of food and may be more prevalent among children with autism spectrum disorder (ASD) for this reason. Sight loss from malnutrition is one of the most devastating and life-changing complications of ARFID, but difficult to diagnose in young children and those with ASD who have more difficulty with communicating their visual problems to carers and clinicians, leading to delayed treatment and greater probability of irreversible vision loss. In this article, we highlight the importance of diet and nutrition to vision and the diagnostic and therapeutic challenges that clinicians and families may face in looking after children with ARFID who are at risk of sight loss. We recommend a scaled multidisciplinary approach to the early identification, investigation, referral and management of children at risk of nutritional blindness from ARFID.

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13. Subramanian D, Eisenberg C, Huang A, Baek J, Naveed H, Komatireddy S, Shiflett MW, Tran TS, Santhakumar V. Dysregulation of Neuropilin-2 Expression in Inhibitory Neurons Impairs Hippocampal Circuit Development Leading to Autism-Epilepsy Phenotype. bioRxiv;2024 (Feb 6)

Dysregulation of development, migration, and function of interneurons, collectively termed interneuronopathies, have been proposed as a shared mechanism for autism spectrum disorders (ASDs) and childhood epilepsy. Neuropilin-2 (Nrp2), a candidate ASD gene, is a critical regulator of interneuron migration from the median ganglionic eminence (MGE) to the pallium, including the hippocampus. While clinical studies have identified Nrp2 polymorphisms in patients with ASD, whether dysregulation of Nrp2-dependent interneuron migration contributes to pathogenesis of ASD and epilepsy has not been tested. We tested the hypothesis that the lack of Nrp2 in MGE-derived interneuron precursors disrupts the excitation/inhibition balance in hippocampal circuits, thus predisposing the network to seizures and behavioral patterns associated with ASD. Embryonic deletion of Nrp2 during the developmental period for migration of MGE derived interneuron precursors (iCKO) significantly reduced parvalbumin, neuropeptide Y, and somatostatin positive neurons in the hippocampal CA1. Consequently, when compared to controls, the frequency of inhibitory synaptic currents in CA1 pyramidal cells was reduced while frequency of excitatory synaptic currents was increased in iCKO mice. Although passive and active membrane properties of CA1 pyramidal cells were unchanged, iCKO mice showed enhanced susceptibility to chemically evoked seizures. Moreover, iCKO mice exhibited selective behavioral deficits in both preference for social novelty and goal-directed learning, which are consistent with ASD-like phenotype. Together, our findings show that disruption of developmental Nrp2 regulation of interneuron circuit establishment, produces ASD-like behaviors and enhanced risk for epilepsy. These results support the developmental interneuronopathy hypothesis of ASD epilepsy comorbidity.

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14. Toma MV, Turcu CE, Turcu CO, Vlad S, Tiliute DE, Pascu P. Extended Reality-Based Mobile App Solutions for the Therapy of Children With Autism Spectrum Disorders: Systematic Literature Review. JMIR Serious Games;2024 (Feb 19);12:e49906.

BACKGROUND: The increasing prevalence of autism spectrum disorder (ASD) has driven research interest on the therapy of individuals with autism, especially children, as early diagnosis and appropriate treatment can lead to improvement in the condition. With the widespread availability of virtual reality, augmented reality (AR), and mixed reality technologies to the public and the increasing popularity of mobile devices, the interest in the use of applications and technologies to provide support for the therapy of children with autism is growing. OBJECTIVE: This study aims to describe the literature on the potential of virtual reality, AR, and mixed reality technologies in the context of therapy for children with ASD. We propose to investigate and analyze the temporal distribution of relevant papers, identify the target audience for studies related to extended reality apps in ASD therapy, examine the technologies used in the development of these apps, assess the skills targeted for improvement in primary studies, explore the purposes of the proposed solutions, and summarize the results obtained from their application. METHODS: For the systematic literature review, 6 research questions were defined in the first phase, after which 5 international databases (Web of Science, Scopus, ScienceDirect, IEEE Xplore Digital Library, and ACM Digital Library) were searched using specific search strings. Results were centralized, filtered, and processed applying eligibility criteria and using the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines. The results were refined using a technical and IT-oriented approach. The quality criteria assessed whether the research addressed ASDs, focused on children’s therapy, involved targeted technologies, deployed solutions on mobile devices, and produced results relevant to our study. RESULTS: In the first step, 179 publications were identified in Zotero reference manager software (Corporation for Digital Scholarship). After excluding articles that did not meet the eligibility or quality assessment criteria, 28 publications were finalized. The analysis revealed an increase in publications related to apps for children with autism starting in 2015 and peaking in 2019. Most studies (22/28, 79%) focused on mobile AR solutions for Android devices, which were developed using the Unity 3D platform and the Vuforia engine. Although 68% (19/28) of these apps were tested with children, 32% (9/28) were tested exclusively by developers. More than half (15/28, 54%) of the studies used interviews as an evaluation method, yielding mostly favorable although preliminary results, indicating the need for more extensive testing. CONCLUSIONS: The findings reported in the studies highlight the fact that these technologies are appropriate for the therapy of children with ASD. Several studies showed a distinct trend toward the use of AR technology as an educational tool for people with ASD. This trend entails multidisciplinary cooperation and an integrated research approach, with an emphasis on comprehensive empirical evaluations and technology ethics.

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15. Vigna E, Meek A, Beyer S. The impact of COVID-19 pandemic on jobs for people with intellectual disabilities and autism in Wales. J Appl Res Intellect Disabil;2024 (Mar);37(2):e13194.

BACKGROUND: The study reports the impact of the Covid-19 pandemic and lockdowns on jobs for people with intellectual disabilities and autism. The study focuses on the impact of the first and the fire-break lockdowns and the actions taken to support young people. METHOD: Data was collected from the cohort of young people currently working in Wales, and that received job coach support from the Engage to Change Project, on furlough arrangements, job retainment and job losses. Innovative initiatives to support young people are described. RESULTS: Review of the working situation during the pandemic was conducted for 184 jobs, evaluating the proportion of young people being furloughed or working remotely and compared with the general population in Wales. CONCLUSIONS: Supported employment agencies adapted their practice during the COVID-19 pandemic, offering new and innovative ways to support young people and facilitate their return to work.

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