1. Al-Hathlol W, Bokhari R, Alzahrani N, Alkuwaiti E. Challenges in the Dental Management of Rett Syndrome under General Anesthesia: A Rare Disease. Case reports in dentistry. 2022; 2022: 4038221.

Rett syndrome is a neurodevelopmental genetic X-linked disorder. It is predominantly found in females with a prevalence rate of 1 : 9000. Rett syndrome patients are usually healthy the first months of their lives. The syndrome goes into a deceleration phase where motor, behavioral, and cognitive skills are impaired. Regarding their oral health, bruxism is one of the common oral manifestations found among Rett syndrome patients. We present a case of an 8-year-old patient with Rett syndrome who presented to the dental clinic for oral rehabilitation. The patient was evaluated and treated under general anesthesia with multiple extractions, restorations, and crown installments. Oral rehabilitation of Rett syndrome is important for those patients, and proper evaluation and treatment are the most efficient when performed under general anesthesia.

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2. Ari B, Sobahi N, Alçin Ö F, Sengur A, Acharya UR. Accurate detection of autism using Douglas-Peucker algorithm, sparse coding based feature mapping and convolutional neural network techniques with EEG signals. Computers in biology and medicine. 2022; 143: 105311.

Autism Spectrum Disorders (ASD) is a collection of complicated neurological disorders that first show in early childhood. Electroencephalogram (EEG) signals are widely used to record the electrical activities of the brain. Manual screening is prone to human errors, tedious, and time-consuming. Hence, a novel automated method involving the Douglas-Peucker (DP) algorithm, sparse coding-based feature mapping approach, and deep convolutional neural networks (CNNs) is employed to detect ASD using EEG recordings. Initially, the DP algorithm is used for each channel to reduce the number of samples without degradation of the EEG signal. Then, the EEG rhythms are extracted by using the wavelet transform. The EEG rhythms are coded by using the sparse representation. The matching pursuit algorithm is used for sparse coding of the EEG rhythms. The sparse coded rhythms are segmented into 8 bits length and then converted to decimal numbers. An image is formed by concatenating the histograms of the decimated rhythm signals. Extreme learning machines (ELM)-based autoencoders (AE) are employed at a data augmentation step. After data augmentation, the ASD and healthy EEG signals are classified using pre-trained deep CNN models. Our proposed method yielded an accuracy of 98.88%, the sensitivity of 100% and specificity of 96.4%, and the F1-score of 99.19% in the detection of ASD automatically. Our developed model is ready to be tested with more EEG signals before its clinical application.

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3. Barkley RA, Dawson G. Higher Risk of Mortality for Individuals Diagnosed With Autism Spectrum Disorder or Attention-Deficit/Hyperactivity Disorder Demands a Public Health Prevention Strategy. JAMA pediatrics. 2022; 176(4): e216398.

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4. Catalá-López F, Hutton B, Page MJ, Driver JA, Ridao M, Alonso-Arroyo A, Valencia A, Macías Saint-Gerons D, Tabarés-Seisdedos R. Mortality in Persons With Autism Spectrum Disorder or Attention-Deficit/Hyperactivity Disorder: A Systematic Review and Meta-analysis. JAMA pediatrics. 2022; 176(4): e216401.

IMPORTANCE: Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) are childhood-onset disorders that may persist into adulthood. Several studies have suggested that they may be associated with an increased risk of mortality; however, the results are inconsistent. OBJECTIVE: To assess the risk of mortality among persons with ASD or ADHD and their first-degree relatives. DATA SOURCES: A search of MEDLINE, Embase, Scopus, Web of Science, and PsycINFO (published from inception to April 1, 2021) was supplemented by searching reference lists of the retrieved articles. STUDY SELECTION: Cohort and case-control studies that reported mortality rate ratios (RRs) in persons with ASD or ADHD and/or their first-degree relatives compared with the general population or those without ASD/ADHD were included. DATA EXTRACTION AND SYNTHESIS: Screening, data extraction, and quality assessment were performed by at least 2 researchers independently. A random-effects model was used to meta-analyze individual studies and assessed heterogeneity (I2). MAIN OUTCOMES AND MEASURES: All-cause mortality in association with ASD or ADHD. Secondary outcome was cause-specific mortality. RESULTS: Twenty-seven studies were included, with a total of 642 260 individuals. All-cause mortality was found to be higher for persons with ASD (154 238 participants; 12 studies; RR, 2.37; 95% CI, 1.97-2.85; I2, 89%; moderate confidence) and persons with ADHD (396 488 participants; 8 studies; RR, 2.13; 95% CI, 1.13-4.02; I2, 98%; low confidence) than for the general population. Among persons with ASD, deaths from natural causes (4 studies; RR, 3.80; 95% CI, 2.06-7.01; I2, 96%; low confidence) and deaths from unnatural causes were increased (6 studies; RR, 2.50; 95% CI, 1.49-4.18; I2, 95%; low confidence). Among persons with ADHD, deaths from natural causes were not significantly increased (4 studies; RR, 1.62; 95% CI, 0.89-2.96; I2, 88%; low confidence), but deaths from unnatural causes were higher than expected (10 studies; RR, 2.81; 95% CI, 1.73-4.55; I2, 92%; low confidence). CONCLUSIONS AND RELEVANCE: This systematic review and meta-analysis found that ASD and ADHD are associated with a significantly increased risk of mortality. Understanding the mechanisms of these associations may lead to targeted strategies to prevent avoidable deaths in high-risk groups. The substantial heterogeneity between studies should be explored further.

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5. Doldur-Balli F, Imamura T, Veatch OJ, Gong NN, Lim DC, Hart MP, Abel T, Kayser MS, Brodkin ES, Pack AI. Synaptic dysfunction connects autism spectrum disorder and sleep disturbances: A perspective from studies in model organisms. Sleep medicine reviews. 2022; 62: 101595.

Sleep disturbances (SD) accompany many neurodevelopmental disorders, suggesting SD is a transdiagnostic process that can account for behavioral deficits and influence underlying neuropathogenesis. Autism Spectrum Disorder (ASD) comprises a complex set of neurodevelopmental conditions characterized by challenges in social interaction, communication, and restricted, repetitive behaviors. Diagnosis of ASD is based primarily on behavioral criteria, and there are no drugs that target core symptoms. Among the co-occurring conditions associated with ASD, SD are one of the most prevalent. SD often arises before the onset of other ASD symptoms. Sleep interventions improve not only sleep but also daytime behaviors in children with ASD. Here, we examine sleep phenotypes in multiple model systems relevant to ASD, e.g., mice, zebrafish, fruit flies and worms. Given the functions of sleep in promoting brain connectivity, neural plasticity, emotional regulation and social behavior, all of which are of critical importance in ASD pathogenesis, we propose that synaptic dysfunction is a major mechanism that connects ASD and SD. Common molecular targets in this interplay that are involved in synaptic function might be a novel avenue for therapy of individuals with ASD experiencing SD. Such therapy would be expected to improve not only sleep but also other ASD symptoms.

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6. Frosch IR, Mittal VA, D’Mello AM. Cerebellar Contributions to Social Cognition in ASD: A Predictive Processing Framework. Frontiers in integrative neuroscience. 2022; 16: 810425.

Functional, structural, and cytoarchitectural differences in the cerebellum are consistently reported in Autism Spectrum Disorders (ASD). Despite this, the mechanisms governing cerebellar contributions to ASD, particularly within the sociocognitive domain, are not well understood. Recently, it has been suggested that several core features of ASD may be associated with challenges creating and using prior expectations or predictions to rapidly adapt to changing stimuli or situations, also known as adaptive prediction. Importantly, neuroimaging, clinical, and animal work find that the cerebellum supports adaptive prediction in both motor and non-motor domains. Perturbations to the cerebellum via injury or neuromodulation have been associated with impairments in predictive skills. Here, we review evidence for a cerebellar role in social cognition and adaptive prediction across individuals with and without ASD.

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7. La Valle C, Chenausky K, Tager-Flusberg H. How do minimally verbal children and adolescents with autism spectrum disorder use communicative gestures to complement their spoken language abilities?. Autism & developmental language impairments. 2021; 6.

BACKGROUND AND AIMS: Prior work has examined how children and adolescents with autism spectrum disorder who are minimally verbal use their spoken language abilities during interactions with others. However, social communication includes other aspects beyond speech. To our knowledge, no studies have examined how minimally verbal children and adolescents with autism spectrum disorder are using their gestural communication during social interactions. Such work can provide important insights into how gestures may complement their spoken language abilities. METHODS: Fifty minimally verbal children and adolescents with autism spectrum disorder participated (M (age) = 12.41 years; 38 males). Gestural communication was coded from the Autism Diagnostic Observation Schedule. Children (n = 25) and adolescents (n = 25) were compared on their production of gestures, gesture-speech combinations, and communicative functions. Communicative functions were also assessed by the type of communication modality: gesture, speech, and gesture-speech to examine the range of communicative functions across different modalities of communication. To explore the role gestures may play the relation between speech utterances and gestural production was investigated. RESULTS: Analyses revealed that (1) minimally verbal children and adolescents with autism spectrum disorder did not differ in their total number of gestures. The most frequently produced gesture across children and adolescents was a reach gesture, followed by a point gesture (deictic gesture), and then conventional gestures. However, adolescents produced more gesture-speech combinations (reinforcing gesture-speech combinations) and displayed a wider range of communicative functions. (2) Overlap was found in the types of communicative functions expressed across different communication modalities. However, requests were conveyed via gesture more frequently compared to speech or gesture-speech. In contrast, dis/agree/acknowledging and responding to a question posed by the conversational partner was expressed more frequently via speech compared to gesture or gesture-speech. (3) The total number of gestures was negatively associated with total speech utterances after controlling for chronological age, receptive communication ability, and nonverbal IQ. CONCLUSIONS: Adolescents may be employing different communication strategies to maintain the conversational exchange and to further clarify the message they want to convey to the conversational partner. Although overlap occurred in communicative functions across gesture, speech, and gesture-speech, nuanced differences emerged in how often they were expressed across different modalities of communication. Given their speech production abilities, gestures may play a compensatory role for some individuals with autism spectrum disorder who are minimally verbal. IMPLICATIONS: Findings underscore the importance of assessing multiple modalities of communication to provide a fuller picture of their social communication abilities. Our results identified specific communicative strengths and areas for growth that can be targeted and expanded upon within gesture and speech to optimize social communication development.

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8. McCowan S, Shaw SCK, Doherty M, Grosjean B, Blank P, Kinnear M. A full CIRCLE: inclusion of autistic doctors in the Royal College Of Psychiatrists’ values and Equality Action Plan. The British journal of psychiatry : the journal of mental science. 2022: 1-3.

Autistic psychiatrists bring strengths and values to the workforce and ask to be acknowledged and supported as part of the Royal College of Psychiatrists’ CIRCLE values and Equality Action Plan. Courage and collaboration are required to jointly learn and innovate, promoting well-being, resilience and excellence for autistic doctors.

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9. Metcalfe D, McKenzie K, McCarty K, Pollet TV, Murray G. An exploration of the impact of contextual information on the emotion recognition ability of autistic adults. International journal of psychology : Journal international de psychologie. 2022; 57(3): 433-42.

Studies of non-autistic individuals and people with an intellectual disability show that contextual information impacts positively on emotion recognition ability, however, this area is not well researched with autistic adults. We investigated this using a static emotion recognition task. Participants completed an emotion recognition task in person or online. In total, 46 autistic participants and 379 non-autistic participants completed the task. A linear mixed model showed that autistic adults had significantly lower accuracy when identifying emotions across all contexts, compared to control participants, even when contextual information was present. No significant effect of context was found in either group, nor was gender shown to be an influential variable. A supplementary analysis showed that higher scores on the Autism-Spectrum Quotient led to lower scores on the emotion recognition task; no effect of context was found here either. This research adds to the limited work investigating the influence of contextual factors in emotion recognition in autistic adults. Overall, it shows that context may not aid emotion recognition in this group in the same way as it does for non-autistic individuals.

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10. Schwartz AE, Corey J, Duff J, Herer A, Rogers ES. Anticipating the outcomes: how young adults with developmental disabilities and co-occurring mental health conditions make decisions about disclosure of their mental health conditions at work. Disability and rehabilitation. 2022: 1-11.

PURPOSE: Little is known about how young adults (YA) with developmental disabilities (DD) and co-occurring mental health conditions navigate workplace disclosure of their mental health condition(s). We sought to understand the guidance professionals provide regarding disclosure and the decisions YA makes about disclosure of mental health conditions. METHODS: We conducted focus groups with professionals who support YA with DD to attain and maintain employment (n = 17) and individual interviews with YA with DD and co-occurring mental health conditions (n = 12; DD diagnoses: autism, n = 9, other DD, n = 3). We conducted content analysis to identify why, when, what, and to whom YA disclose their mental health condition and guidance provided regarding disclosure. RESULTS: YA and professionals described disclosure decisions as largely influenced by perceived needs (i.e., need for accommodations) and anticipated positive (e.g., support) and negative (e.g., stigma, not being hired) outcomes. They largely constrained disclosure to work-relevant content. Many YA disclosed to coworkers with whom they were comfortable, though both YA and professionals agreed that initial disclosure should be limited to supervisors and/or human resources. CONCLUSIONS: Workplaces may support disclosure-a necessity for the provision of accommodations-by cultivating an inclusive environment and openly demonstrating familiarity and comfort with employees with disabilities.IMPLICATIONS FOR REHABILITATIONProfessionals who support young adults with developmental disabilities and co-occurring mental health conditions should be well-versed in current laws and regulations on disclosure and reasonable workplace accommodations.Workplace culture is one major factor impacting how disclosure is handled, including whether the disclosure is required at all.Individuals with disabilities and professionals should recognize that timing, content, and decisions to disclose may vary by individuals’ needs and workplace supports, and that change may occur over time.

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11. Uljarević M, Billingham W, Cooper MN, Condron P, Hardan AY. Examining Effectiveness and Predictors of Treatment Response of Pivotal Response Treatment in Autism: An Umbrella Review and a Meta-Analysis. Frontiers in psychiatry. 2021; 12: 766150.

The current study aimed to provide a comprehensive appraisal of the current evidence on the effectiveness of Pivotal Response Training (PRT) for individuals with autism spectrum disorder (ASD) and to explore predictors of treatment response. We conducted a systematic review of the following electronic databases and registers: PsycINFO, Medline, Embase, Cochrane Central Register of Controlled Trials, ERIC, Linguistics and Language Behavior Abstracts. Six systematic reviews were identified, two with meta-analytic component. Identified reviews varied widely in terms of their aims, outcomes, and designs which precluded a unified and consistent set of conclusions and recommendations. Ten RCTs were identified. Eight of identified RCTs reported at least one language and communication-related outcome. Statistically significant effects of PRT were identified across a majority of identified RCTs for a range of language and communication skills. However, evidence for positive treatment effects of PRT on outcome measures assessing other domains was less robust and/or specific. Overall, both previous systematic reviews and new meta-analysis of the RCTs suggest that PRT shows promise for improving language and communication. Only four RCTs examined the association between baseline child characteristics and treatment outcomes, however, no consistent pattern emerged. This review has identified several key methodological and design improvements that are needed to enable our field to fully capitalize on the potential of RCT designs and characterize detailed profiles of treatment responders. These findings are essential for informing the development of evidence-based guidelines for clinicians on what works for whom and why.

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12. Vakili Shahrbabaki SS, Jonaidi H, Sheibani V, Bashiri H. Early postnatal handling alters social behavior, learning, and memory of pre- and postnatal VPA-induced rat models of autism in a context-based manner. Physiology & behavior. 2022; 249: 113739.

Early life events are known to greatly affect brain development, cortical neurogenesis, and Hypothalamic-pituitary-adrenal activity. Mainly characterized by impairment in social communication, language, and cognitive development, autism spectrum disorder (ASD) refers to a class of neuropsychiatric disorders with numerous genetic and environmental risk factors. In the early handling (EH) method, daily separation of infants from their mother, physical touching, and exposure to a new environment occur. Here, we studied the effect of EH on Social interaction, learning, and memory in rats exposed pre-or post-natally to valproic acid (VPA). Gestational VPA exposure (600 mg/kg) led to some severe autistic-like traits, more notable in the social behavior of the male sex, along with unchanged to partially altered spatial learning and memory function and reduced avoidance memory. In comparison, while causing a sex-dependent increase in spatial memory, subcutaneous injection of VPA (400 mg/kg) in infancy resulted in limited adverse autistic features, including a decrease in males’ social preference, as well as reduced avoidance memory. The results indicated that neonatal handling significantly improved multiple social behavior and memory deficits in prenatally injected rats. In contrast, EH in rats receiving postnatal VPA elicited a restricted advantage on social novelty tendency; while negatively affecting some other social behavior criteria and spatial learning of males and encouraging sex-dependent repetitive behaviors in the social setting. The controversial influence of postnatal handling on juvenile rats of postnatal VPA treatment vs. prenatal VPA treatment opens up the potential for future research on the context-based consequence of early-life handling stress using different behavioral tasks and to benefit therapeutic procedures through understanding the sex- and age-specific neurobiology of short-term environmental manipulation in animal models of autism.

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13. Veytsman E, Baker E, Martin AM, Choy T, Blacher J, Stavropoulos K. Perceived and Observed Treatment Gains Following PEERS: A Preliminary Study with Latinx Adolescents with ASD. Journal of autism and developmental disorders. 2022: 1-14.

The Program for the Education and Enrichment of Relational Skills (PEERS) social skills intervention has demonstrated effectiveness for adolescents with autism spectrum disorder (ASD). However, studies have been limited by a lack of objective outcome measures and an underrepresentation of Latinx families. This pilot study extends the PEERS literature by utilizing an observational measure of conversational skills (Contextual Assessment of Social Skills; CASS) with a diverse sample of 13 adolescents with ASD (with parent groups conducted in English and Spanish simultaneously) and a control group of 11 neurotypical adolescents. Consistent with previous research, adolescents with ASD and their parents perceived improvements in social functioning following intervention, which were maintained four months later and corroborated by improvements in conversational skills.

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14. Zhang H, Romero H, Schmidt A, Gagova K, Qin W, Bertulat B, Lehmkuhl A, Milden M, Eck M, Meckel T, Leonhardt H, Cardoso MC. MeCP2-induced heterochromatin organization is driven by oligomerization-based liquid-liquid phase separation and restricted by DNA methylation. Nucleus (Austin, Tex). 2022; 13(1): 1-34.

Heterochromatin is the highly compacted form of chromatin with various condensation levels hallmarked by high DNA methylation. MeCP2 is mostly known as a DNA methylation reader but has also been reported as a heterochromatin organizer. Here, we combine liquid-liquid phase separation (LLPS) analysis and single-molecule tracking with quantification of local MeCP2 concentrations in vitro and in vivo to explore the mechanism of MeCP2-driven heterochromatin organization and dynamics. We show that MeCP2 alone forms liquid-like spherical droplets via multivalent electrostatic interactions and with isotropic mobility. Crowded environments and DNA promote MeCP2 LLPS and slow down MeCP2 mobility. DNA methylation, however, restricts the growth of heterochromatin compartments correlating with immobilization of MeCP2. Furthermore, MeCP2 self-interaction is required for LLPS and is disrupted by Rett syndrome mutations. In summary, we are able to model the heterochromatin compartmentalization as well as MeCP2 concentration and heterogeneous motion in the minimal in vitro system.

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