1. Chien YL, Lee CH, Chiu YN, Tsai WC, Min YC, Lin YM, Wong JS, Tseng YL. Game-based Social Interaction Platform for Cognitive Assessment of Autism using Eye Tracking. IEEE transactions on neural systems and rehabilitation engineering : a publication of the IEEE Engineering in Medicine and Biology Society. 2022; Pp.

The design goals of recently developed serious games are to improve attention, affective recognition, and social interactions among individuals with autism. However, most previous studies on serious games used behavioral questionnaires to evaluate their effectiveness. The cognitive assessment of individuals with autism after behavioral intervention or drug treatment has become important because it provides promising biomarkers to assess improvement after cognitive intervention. In this study, we developed a game-based social interaction platform incorporating an eye-tracking system for children and preadolescents with autism. Three modules (focusing on gaze following, facial emotion recognition, and social interaction skills) are included in the platform; participants with autism learn these according to their cognitive abilities. The eye-tracking results showed decreased fixation durations when autistic children looked at positive emotional expressions and focused on multiple targets. Prolonged saccade durations and shorter fixation times for social-related facial emotion expressions were also found in preadolescents and teenagers with autism. Our findings suggest that these atypical gaze patterns are reliable biomarkers for evaluating the social and cognitive functions of autistic individuals while playing serious games. The proposed platform’s game-based modules and the findings regarding aberrant gaze patterns in autistic individuals demonstrate the possibility of evaluating cognitive functions and intervention effectiveness by using eye-tracking signals in a serious game or real-life environment.

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2. Dominguez-Alonso S, Carracedo A, Rodriguez-Fontenla C. The non-coding genome in Autism Spectrum Disorders. European journal of medical genetics. 2023; 66(6): 104752.

Autism Spectrum Disorders (ASD) are a group of neurodevelopmental disorders (NDDs) characterized by difficulties in social interaction and communication, repetitive behavior, and restricted interests. While ASD have been proven to have a strong genetic component, current research largely focuses on coding regions of the genome. However, non-coding DNA, which makes up for ∼99% of the human genome, has recently been recognized as an important contributor to the high heritability of ASD, and novel sequencing technologies have been a milestone in opening up new directions for the study of the gene regulatory networks embedded within the non-coding regions. Here, we summarize current progress on the contribution of non-coding alterations to the pathogenesis of ASD and provide an overview of existing methods allowing for the study of their functional relevance, discussing potential ways of unraveling ASD’s « missing heritability ».

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3. Frazier TW, Whitehouse AJO, Leekam SR, Carrington SJ, Alvares GA, Evans DW, Hardan AY, Uljarević M. Reliability of the Commonly Used and Newly-Developed Autism Measures. Journal of autism and developmental disorders. 2023.

PURPOSE: The aim of the present study was to compare scale and conditional reliability derived from item response theory analyses among the most commonly used, as well as several newly developed, observation, interview, and parent-report autism instruments. METHODS: When available, data sets were combined to facilitate large sample evaluation. Scale reliability (internal consistency, average corrected item-total correlations, and model reliability) and conditional reliability estimates were computed for total scores and for measure subscales. RESULTS: Generally good to excellent scale reliability was observed for total scores for all measures, scale reliability was weaker for RRB subscales of the ADOS and ADI-R, reflecting the relatively small number of items for these measures. For diagnostic measures, conditional reliability tended to be very good (> 0.80) in the regions of the latent trait where ASD and non-ASD developmental disability cases would be differentiated. For parent-report scales, conditional reliability of total scores tended to be excellent (> 0.90) across very wide ranges of autism symptom levels, with a few notable exceptions. CONCLUSIONS: These findings support the use of all of the clinical observation, interview, and parent-report autism symptom measures examined, but also suggest specific limitations that warrant consideration when choosing measures for specific clinical or research applications.

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4. Guerra M, Medici V, Weatheritt R, Corvino V, Palacios D, Geloso MC, Farini D, Sette C. Fetal exposure to valproic acid dysregulates the expression of autism-linked genes in the developing cerebellum. Translational psychiatry. 2023; 13(1): 114.

Autism spectrum disorder (ASD) includes a set of highly heritable neurodevelopmental syndromes characterized by social and communication impairment, repetitive behaviour, and intellectual disability. Although mutations in multiple genes have been associated to ASD, most patients lack detectable genetic alterations. For this reason, environmental factors are commonly thought to also contribute to ASD aetiology. Transcriptome analyses have revealed that autistic brains possess distinct gene expression signatures, whose elucidation can provide insights about the mechanisms underlying the effects of ASD-causing genetic and environmental factors. Herein, we have identified a coordinated and temporally regulated programme of gene expression in the post-natal development of cerebellum, a brain area whose defects are strongly associated with ASD. Notably, this cerebellar developmental programme is significantly enriched in ASD-linked genes. Clustering analyses highlighted six different patterns of gene expression modulated during cerebellar development, with most of them being enriched in functional processes that are frequently dysregulated in ASD. By using the valproic acid mouse model of ASD, we found that ASD-linked genes are dysregulated in the developing cerebellum of ASD-like mice, a defect that correlates with impaired social behaviour and altered cerebellar cortical morphology. Moreover, changes in transcript levels were reflected in aberrant protein expression, indicating the functional relevance of these alterations. Thus, our work uncovers a complex ASD-related transcriptional programme regulated during cerebellar development and highlight genes whose expression is dysregulated in this brain area of an ASD mouse model.

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5. Heidari A, Motamed M, Rahimi Forushani A, Alaghband-Rad J. The Association Between Autism Spectrum Disorder and Attention Deficit Hyperactivity Disorder Symptoms in Medical Students. The Journal of nervous and mental disease. 2023.

Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are the two most prevalent neurodevelopmental disorders affecting communication and behavior. The co-occurrence of these conditions is probable and can contribute to several challenges in adaptive functioning and academic achievement.In this cross-sectional study, 168 Iranian medical students (107 female, 61 male) studying at Tehran University of Medical Sciences in 2021 were enrolled. We administered the Ritvo Autism Asperger Diagnostic Scale-Revised (RAADS-R) and Adult ADHD Self-Report Scale (ASRS) questionnaires online to assess different symptoms of ASD and ADHD in our sample. In this study, the RAADS-R was translated into Persian and validated for the first time in Iran.The correlation tests demonstrated a significant association between the total score and different subscales’ scores of the RAADS-R and the total score and the two subscales’ scores of the ASRS questionnaire (p < 0.001, 0.27 < Spearman correlation coefficient < 0.51). This study also illustrated a high prevalence of ASD and ADHD symptoms among the participants. Moreover, male respondents had a significantly higher prevalence of ASD symptoms (57.3% in males vs. 28.03% in females, p < 0.001).This study indicated that the distinct impairments in behavior and cognition attributed to ASD and ADHD could be common manifestations in medical students. Given that the co-occurrence of these disorders may lead to significant challenges in their professional life, the early diagnosis and subsequent support for medical students with co-occurring expressions of ASD and ADHD could be extremely helpful, as it could indirectly improve the medical services provided to patients by future physicians, leading to an improvement in public health.

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6. Hwang G, Wen J, Sotardi S, Brodkin ES, Chand GB, Dwyer DB, Erus G, Doshi J, Singhal P, Srinivasan D, Varol E, Sotiras A, Dazzan P, Kahn RS, Schnack HG, Zanetti MV, Meisenzahl E, Busatto GF, Crespo-Facorro B, Pantelis C, Wood SJ, Zhuo C, Shinohara RT, Shou H, Fan Y, Di Martino A, Koutsouleris N, Gur RE, Gur RC, Satterthwaite TD, Wolf DH, Davatzikos C. Assessment of Neuroanatomical Endophenotypes of Autism Spectrum Disorder and Association With Characteristics of Individuals With Schizophrenia and the General Population. JAMA psychiatry. 2023.

IMPORTANCE: Autism spectrum disorder (ASD) is associated with significant clinical, neuroanatomical, and genetic heterogeneity that limits precision diagnostics and treatment. OBJECTIVE: To assess distinct neuroanatomical dimensions of ASD using novel semisupervised machine learning methods and to test whether the dimensions can serve as endophenotypes also in non-ASD populations. DESIGN, SETTING, AND PARTICIPANTS: This cross-sectional study used imaging data from the publicly available Autism Brain Imaging Data Exchange (ABIDE) repositories as the discovery cohort. The ABIDE sample included individuals diagnosed with ASD aged between 16 and 64 years and age- and sex-match typically developing individuals. Validation cohorts included individuals with schizophrenia from the Psychosis Heterogeneity Evaluated via Dimensional Neuroimaging (PHENOM) consortium and individuals from the UK Biobank to represent the general population. The multisite discovery cohort included 16 internationally distributed imaging sites. Analyses were performed between March 2021 and March 2022. MAIN OUTCOMES AND MEASURES: The trained semisupervised heterogeneity through discriminative analysis models were tested for reproducibility using extensive cross-validations. It was then applied to individuals from the PHENOM and the UK Biobank. It was hypothesized that neuroanatomical dimensions of ASD would display distinct clinical and genetic profiles and would be prominent also in non-ASD populations. RESULTS: Heterogeneity through discriminative analysis models trained on T1-weighted brain magnetic resonance images of 307 individuals with ASD (mean [SD] age, 25.4 [9.8] years; 273 [88.9%] male) and 362 typically developing control individuals (mean [SD] age, 25.8 [8.9] years; 309 [85.4%] male) revealed that a 3-dimensional scheme was optimal to capture the ASD neuroanatomy. The first dimension (A1: aginglike) was associated with smaller brain volume, lower cognitive function, and aging-related genetic variants (FOXO3; Z = 4.65; P = 1.62 × 10-6). The second dimension (A2: schizophrenialike) was characterized by enlarged subcortical volumes, antipsychotic medication use (Cohen d = 0.65; false discovery rate-adjusted P = .048), partially overlapping genetic, neuroanatomical characteristics to schizophrenia (n = 307), and significant genetic heritability estimates in the general population (n = 14 786; mean [SD] h2, 0.71 [0.04]; P < 1 × 10-4). The third dimension (A3: typical ASD) was distinguished by enlarged cortical volumes, high nonverbal cognitive performance, and biological pathways implicating brain development and abnormal apoptosis (mean [SD] β, 0.83 [0.02]; P = 4.22 × 10-6). CONCLUSIONS AND RELEVANCE: This cross-sectional study discovered 3-dimensional endophenotypic representation that may elucidate the heterogeneous neurobiological underpinnings of ASD to support precision diagnostics. The significant correspondence between A2 and schizophrenia indicates a possibility of identifying common biological mechanisms across the 2 mental health diagnoses.

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7. Joginder Singh S, Loo ZL. The use of augmentative and alternative communication by children with developmental disability in the classroom: a case study. Disability and rehabilitation Assistive technology. 2023: 1-9.

PURPOSE: Augmentative and alternative communication (AAC) systems are often introduced to children with disabilities who demonstrate complex communication needs. As attending school is an essential part of these children’s lives, it is important that they use their AAC system to communicate in the classroom. This study aimed to describe the nature of the use of AAC by students with developmental disabilities in the classroom. MATERIALS AND METHOD: This study was conducted in Malaysia. Six students were observed twice each in their classroom and their classroom interactions were video recorded. The video recordings were transcribed and coded for the presence of a communication event, the student’s mode of communication and communication function, the communication partner involved, and access to the AAC system. RESULTS: Contrary to past studies, most students in this study spontaneously initiated interaction almost as many times as they responded. They primarily communicated with gestures and verbalizations/vocalizations despite having been introduced to an AAC system. When students communicated using their AAC system, they mainly interacted with the teachers, and for the function of either behavioral regulation or joint attention. It was found that for 39% of communicative events, the student’s aided AAC system was not within arm’s reach. CONCLUSION: The findings highlight the need for efforts to encourage students with complex communication needs to use AAC more frequently in their classroom to be able to communicate more effectively and for a wider range of communicative functions. Speech-language pathologists can work closely with teachers to provide the necessary support to these students. Speech-language pathologists (SLPs) can provide ongoing support to school teachers to equip them with the necessary knowledge and skills to support the use of augmentative and alternative communication (AAC) in the classroom.SLPs can also focus on teaching students to use AAC for a variety of communication functions and with various partners rather than only adult communication partners. eng.

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8. Kim JH, Song DY, Han HS, Yoon NH, Cho HB, Lee HB, Choi KH, Chae PK, Bong G, Ahn S, Yoo HJ. Improving adaptive behaviors for autistic adults without intellectual disability through executive function training. Asian journal of psychiatry. 2023; 84: 103579.

Executive functioning (EF) is a cognitive process used to perform various daily activities throughout one’s lifespan. Autistic adults without intellectual disabilities (ID) also experience difficulties with EF, which is closely associated with adaptive behaviors. For this reason, it is important to improve adaptive behaviors through enhanced use of EF for autistic adults to transition into adulthood successfully. This study aims to conduct a randomized controlled trial to evaluate the effectiveness of a newly developed and modified intervention program. Thirty autistic adults without ID were randomly assigned to the treatment or waitlist group. The participants and caregivers completed various assessments and self-report questionnaires to measure everyday EF and adaptive behaviors. We performed linear mixed-effect modeling to compare the two groups. Data collected at pre-, middle, post-, and follow-up based on participants who completed the program were used to explore changes across time. While there were significant differences in the EF utility-scale (F=5.46, p = .027) between the treatment and waitlist groups, no group x time interactions were detected in other measures. Everyday EF and adaptive behaviors improved when comparing measurements at different time points (p < .001). Our program is Korea's first evidence-based intervention to improve everyday EF and adaptive behaviors for autistic adults without ID.

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9. Kimura H, Kishi S, Narita H, Tanaka T, Okada T, Fujisawa D, Sugita N, Noma S, Matsumoto Y, Ohashi A, Mitsuyasu H, Yoshida K, Kawasaki H, Nishimura K, Ogura Y, Ozaki N. Comorbid psychiatric disorders and long-term survival after liver transplantation in transplant facilities with a psychiatric consultation-liaison team: a multicenter retrospective study. BMC gastroenterology. 2023; 23(1): 106.

OBJECTIVE: Comorbid psychiatric disorders negatively affect the survival rate of patients with some physical disorders. In liver transplant recipients, various psychiatric disorders have been identified as worsening prognosis. However, little is known about how the presence of any comorbid (overall) disorders affect the survival rate of transplant recipients. In this study, we examined the effect of overall comorbid psychiatric disorders on survival rate in liver transplant recipients. METHODS: A total of 1006 recipients who underwent liver transplantation between September 1997 and July 2017 across eight transplant facilities with a psychiatric consultation-liaison team were identified consecutively. Recipients were categorized into those with comorbid psychiatric disorders and those without comorbid psychiatric disorders. In the comorbid psychiatric disorder group, psychiatric disorder diagnosis and time of diagnosis were investigated retrospectively. RESULTS: Of the 1006 recipients, 294 (29.2%) had comorbid psychiatric disorders. Comorbid psychiatric disorders in the 1006 recipients were insomnia (N = 107, 10.6%), delirium (N = 103, 10.2%), major depressive disorder (N = 41, 4.1%), adjustment disorder (N = 19, 1.9%), anxiety disorder (N = 17, 1.7%), intellectual disability (N = 11, 1.1%), autism spectrum disorder (N = 7, 0.7%), somatic symptom disorder (N = 4, 0.4%) schizophrenia (N = 4, 0.4%), substance use disorder (N = 24, 2.4%) and personality disorder (N = 2, 0.2%). The most common time of psychiatric disorder diagnosis was within the first 3 months after liver transplantation (51.6%). The final mortality in patients with comorbid psychiatric disorder diagnosis during the five periods (pretransplant, transplant to 3 months, months to 1 year, 1 to 3 years, and over 3 years posttransplant) was 16.2%, 18.8%, 39.1%, 28.6%, and 16.2% respectively, and there were no significant differences between the five periods (χ2 = 8.05, df = 4, p = 0.09). Overall comorbid psychiatric disorders were significantly associated with shorter survival time (log-rank test: p = 0.01, hazard ratio: 1.59 [95% confidence interval: 1.14-2.21], survival rate at the endpoint [%]: 62.0 vs. 83.3). However, after adjusting for confounding variables using Cox proportional hazards regression, there was no significant effect of overall comorbid psychiatric disorders on prognosis. CONCLUSION: Comorbid psychiatric disorders did not affect the survival rate of liver transplant recipients in this study.

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10. Li C, Hu J. Relatively Inefficient Integration of Metaphorical Semantics in Autistic Adults Without Intellectual Impairment. Journal of autism and developmental disorders. 2023.

Individuals diagnosed with autism are often thought to face challenges in comprehensive metaphors, even for the individuals without intellectual impairment. This study is to investigate the features and mechanisms of metaphor integration in the process of metaphor comprehension in real-time and context-free situations in autism, as well as the influence of the mental complexity of metaphor. Twenty autistic adults and twenty typically developing peers carried out a Lexical Decision Task and a Recognition Task. The results of the study showed that, there are deficiencies in real-time metaphor comprehension in autistic adults without intellectual impairment. It may caused by their relatively inefficient integration of metaphor semantics. This mechanism was equally pronounced in the metaphors with different mental complexity.

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11. Li Q, Zhao W, Palaniyappan L, Guo S. Atypical hemispheric lateralization of brain function and structure in autism: a comprehensive meta-analysis study. Psychological medicine. 2023: 1-12.

BACKGROUND: Characteristic changes in the asymmetric nature of the human brain are associated with neurodevelopmental differences related to autism. In people with autism, these differences are thought to affect brain structure and function, although the structural and functional bases of these defects are yet to be fully characterized. METHODS: We applied a comprehensive meta-analysis to resting-state functional and structural magnetic resonance imaging datasets from 370 people with autism and 498 non-autistic controls using seven datasets of the Autism Brain Imaging Data Exchange Project. We studied the meta-effect sizes based on standardized mean differences and standard deviations (s.d.) for lateralization of gray matter volume (GMV), fractional amplitude of low-frequency fluctuation (fALFF), and regional homogeneity (ReHo). We examined the functional correlates of atypical laterality through an indirect annotation approach followed by a direct correlation analysis with symptom scores. RESULTS: In people with autism, 85, 51, and 51% of brain regions showed a significant diagnostic effect for lateralization in GMV, fALFF, and ReHo, respectively. Among these regions, 35.7% showed overlapping differences in lateralization in GMV, fALFF, and ReHo, particularly in regions with functional annotations for language, motor, and perceptual functions. These differences were associated with clinical measures of reciprocal social interaction, communication, and repetitive behaviors. A meta-analysis based on s.d. showed that people with autism had lower variability in structural lateralization but higher variability in functional lateralization. CONCLUSION: These findings highlight that atypical hemispheric lateralization is a consistent feature in autism across different sites and may be used as a neurobiological marker for autism.

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12. Locke J, Osuna A, Myrvold RJ, Closson JS. Supporting Autistic College Students: Examining the Mentoring, Organization and Social Support for Autism Inclusion on Campus (MOSSAIC) Program. Journal of autism and developmental disorders. 2023.

Recent trends suggest that autistic young adults are increasingly accessing postsecondary education than in years past. However, these students often face unique challenges that negatively impact their college experience resulting in high dropout. The Mentoring, Organization and Social Support for Autism Inclusion on Campus (MOSSAIC) Program is a peer-mentorship college transition program intended to support autistic students with executive functioning, social, and self-advocacy skills. This study investigated the experiences of 13 autistic mentees and 12 non-autistic mentors enrolled in the MOSSAIC program. Program feedback was collected using semi-structured interviews in order to understand student experiences, highlight benefits, and identify areas of improvement. Participants reported a general positive experience and improved skills in the domains of socialization, executive functioning, academic performance, and professional development. The most common suggestion for the program was the inclusion of autistic peer mentors. Mentees noted difficulty relating with non-autistic peers and feeling burdened with the need to educate their mentor on how to support autistic adults. These data provide valuable insight into how colleges can better improve support for autistic college students to ensure postsecondary success. Future peer mentorship programs should consider recruiting neurodiverse mentors from diverse backgrounds to improve congruence between mentor and mentee identities.

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13. May D, Kponee-Shovein K, Mahendran M, Downes N, Sheng K, Lefebvre P, Cheng WY. Epidemiology and patient journey of Rett syndrome in the United States: a real-world evidence study. BMC neurology. 2023; 23(1): 141.

BACKGROUND: Rett syndrome (RTT) is a neurodevelopmental disorder that almost exclusively affects females and is associated with high clinical burden. However, literature characterizing the real-world journey of patients with RTT is limited. This study provided an overview of the epidemiology, patient characteristics, clinical manifestations, healthcare resource utilization (HRU), costs, and treatment patterns of patients with RTT in the US. METHODS: IQVIA™ Medical Claims Data and Longitudinal Prescription Data (11/01/2016-10/31/2019) were used to identify female patients with RTT, with the first observed diagnosis defined as the index date. Annual incidence and prevalence of RTT were assessed over the entire study period; clinical manifestations, all-cause and RTT-related HRU and costs, and treatment patterns were evaluated during the observation period-from the index date to end of clinical activity or end of data availability, whichever occurred first. Results were further stratified into pediatric (< 18 years) and adult (≥ 18 years) subgroups. RESULTS: In 2019, prevalence and incidence of RTT was 0.32 and 0.23 per 10,000 enrollees, respectively. Among 5,940 female patients (pediatric: 3,078; adult: 2,862) with mean observation period of 2.04 years, the most prevalent clinical manifestations were neurological disorders (72.8%), gastrointestinal/nutritional disorders (41.9%), and orthopedic disorders (34.6%). The incidence rate of all-cause HRU was 44.43 visits per-patient-per-year and RTT-related HRU comprised 47% of all-cause HRU. Mean all-cause healthcare costs were $40,326 per-patient-per-year, with medical costs driven by home/hospice care visits, therapeutic services, outpatient visits, and inpatient visits. RTT-related healthcare costs comprised 45% of all-cause healthcare costs. The most prevalent supportive therapy and pharmacologic agent were feeding assistance (37.9%) and antiepileptic drugs (54.8%), respectively. Trends were similar by subgroup; although, rates of HRU were generally higher among pediatric patients relative to adult patients (all-cause: 52.43 and 35.86, respectively), which translated into higher mean healthcare costs (all-cause: $45,718 and $34,548, respectively). CONCLUSIONS: Patients with RTT have substantial disease burden, including prevalent clinical manifestations, high rates of HRU and annual healthcare costs, and reliance on pharmacologic and supportive therapies. These findings underscore the unmet need for effective therapies to target the multifactorial manifestations of RTT.

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14. Moriuchi Y, Fuchigami T, Horie M, Yamada R, Morioka I. Central Precocious Puberty (CPP) in Two Girls With Autism Spectrum Disorder (ASD). Cureus. 2023; 15(3): e35671.

In recent years, some cases of central precocious puberty (CPP) have been reported in patients with autism spectrum disorder (ASD). Here, we report CPP in two girls with ASD. The first case was a girl, 7 years and 9 months of age. Breast budding was observed at 7 years and 2 months and pubic hair at 7 years and 8 months of age. She was diagnosed with CPP based on guidelines and ASD according to her developmental history. Considering the psychosocial burden caused by the discrepancy between her cognitive and behavioral development and the progression of secondary sex characteristics, gonadotropin-releasing hormone (GnRH) analog therapy was initiated. Case 2 was a girl, 9 years and 8 months of age. She was diagnosed with ASD according to her developmental history. Treatment using oral aripiprazole for hypersensitivity to touch and taste had been initiated, with the onset of menarche at 9 years and 10 months of age. Breast budding had been observed before 7 years and 6 months old. She was diagnosed with CPP based on guidelines. Considering that menarche was not a significant psychosocial burden and the difficulty for her and her family to attend regular follow-ups, GnRH analog therapy was not initiated. Although the pathophysiological pathway linking ASD and CPP remains to be elucidated clinically, attention to CPP in ASD is needed, considering the increase in reported cases. In addition, the indication of GnRH analog therapy should be judged considering the psychosocial burden associated with secondary sexual characteristics.

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15. Muniandy M, Richdale AL, Arnold SRC, Trollor JN, Lawson LP. Brief Report: Longitudinal Role of Coping Strategies on Mental Health Outcomes in Autistic Youth and Adults. Journal of autism and developmental disorders. 2023.

The stress literature suggests that coping strategies are implicated in mental health outcomes. However, the longitudinal relationship between coping strategies and mental health in the autistic adult population has not yet been examined. This 2-year longitudinal study examined the predictive role of both baseline and change in coping strategy use over time (i.e., an increase or decrease) on anxiety, depression, and well-being after 2-years in 87 autistic adults aged 16 to 80 years. Controlling for baseline mental health, both baseline and increase in disengagement coping strategies (e.g., denial, self-blame) predicted higher anxiety and depression, and lower well-being, while an increase in engagement coping strategies (e.g., problem solving, acceptance) predicted higher well-being. These findings extend the current coping literature in autistic adults, offering insight into mental health support and intervention options.

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16. Rodrigues DC, Mufteev M, Yuki KE, Narula A, Wei W, Piekna A, Liu J, Pasceri P, Rissland OS, Wilson MD, Ellis J. Buffering of transcription rate by mRNA half-life is a conserved feature of Rett syndrome models. Nature communications. 2023; 14(1): 1896.

Transcriptional changes in Rett syndrome (RTT) are assumed to directly correlate with steady-state mRNA levels, but limited evidence in mice suggests that changes in transcription can be compensated by post-transcriptional regulation. We measure transcription rate and mRNA half-life changes in RTT patient neurons using RATEseq, and re-interpret nuclear and whole-cell RNAseq from Mecp2 mice. Genes are dysregulated by changing transcription rate or half-life and are buffered when both change. We utilized classifier models to predict the direction of transcription rate changes and find that combined frequencies of three dinucleotides are better predictors than CA and CG. MicroRNA and RNA-binding Protein (RBP) motifs are enriched in 3’UTRs of genes with half-life changes. Nuclear RBP motifs are enriched on buffered genes with increased transcription rate. We identify post-transcriptional mechanisms in humans and mice that alter half-life or buffer transcription rate changes when a transcriptional modulator gene is mutated in a neurodevelopmental disorder.

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17. Salem S, Ashaat E. Association of Relative Telomere Length and LINE-1 Methylation with Autism but not with Severity. Journal of autism and developmental disorders. 2023.

Autism is associated with genomic instability, which is regulated by telomere length (TL) and index of global methylation (LINE-1). This study will determine relative TL (RTL) and LINE-1 methylation percentage for 69 patients and 33 control subjects to evaluate their potential role as biomarkers for autism. The results displayed a significant decrease of both RTL and LINE-1 methylation in autistic cases relative to controls (P < 0.001). Analysis of receiver operating characteristics curve revealed that both of RTL and LINE-1 methylation percentage have the ability to serve as autism biomarkers (area under the curve = 0.817 and 0.889, respectively). The statistical analysis revealed positive correlation between the two biomarkers (correlation coefficient = 0.439 and P < 0.001).

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18. Santos JX, Sampaio P, Rasga C, Martiniano H, Faria C, Café C, Oliveira A, Duque F, Oliveira G, Sousa L, Nunes A, Vicente AM. Evidence for an association of prenatal exposure to particulate matter with clinical severity of Autism Spectrum Disorder. Environmental research. 2023; 228: 115795.

Early-life exposure to air pollutants, including ozone (O(3)), particulate matter (PM(2.5) or PM(10), depending on diameter of particles), nitrogen dioxide (NO(2)) and sulfur dioxide (SO(2)) has been suggested to contribute to the etiology of Autism Spectrum Disorder (ASD). In this study, we used air quality monitoring data to examine whether mothers of children with ASD were exposed to high levels of air pollutants during critical periods of pregnancy, and if higher exposure levels may lead to a higher clinical severity in their offspring. We used public data from the Portuguese Environment Agency to estimate exposure to these pollutants during the first, second and third trimesters of pregnancy, full pregnancy and first year of life of the child, for 217 subjects with ASD born between 2003 and 2016. These subjects were stratified in two subgroups according to clinical severity, as defined by the Autism Diagnostic Observational Schedule (ADOS). For all time periods, the average levels of PM(2.5), PM(10) and NO(2) to which the subjects were exposed were within the admissible levels defined by the European Union. However, a fraction of these subjects showed exposure to levels of PM(2.5) and PM(10) above the admissible threshold. A higher clinical severity was associated with higher exposure to PM(2.5) (p = 0.001), NO(2) (p = 0.011) and PM(10) (p = 0.041) during the first trimester of pregnancy, when compared with milder clinical severity. After logistic regression, associations with higher clinical severity were identified for PM(2.5) exposure during the first trimester (p = 0.002; OR = 1.14, 95%CI: 1.05-1.23) and full pregnancy (p = 0.04; OR = 1.07, 95%CI: 1.00-1.15) and for PM(10) (p = 0.02; OR = 1.07, 95%CI: 1.01-1.14) exposure during the third trimester. Exposure to PM is known to elicit neuropathological mechanisms associated with ASD, including neuroinflammation, mitochondrial disruptions, oxidative stress and epigenetic changes. These results offer new insights on the impact of early-life exposure to PM in ASD clinical severity.

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19. Wadhera T, Mahmud M. Brain Functional Network Topology in Autism Spectrum Disorder: A Novel Weighted Hierarchical Complexity Metric for Electroencephalogram. IEEE journal of biomedical and health informatics. 2022; Pp.

Recent complex network analysis reflected the brain network as a modular network with small-world architecture in Autism Spectrum Disorder (ASD). Network hierarchy, which can provide important information to comment on brain networks, especially in ASD, has not yet been fully explored. The present work proposes a Weighted Hierarchical Complexity (WHC) metric to study network topology using the node degree concept. To do so, brain networks have been constructed using a visibility algorithm. To ensure proper mapping of network characteristics by the proposed metric, it is statistically compared to other network measures of brain connectivity related to integration, segregation and centrality. Further, for automated ASD classification, these network metrics were fed to explainable machine learning algorithms and the results revealed that brain regions tend to hierarchically coordinate in ASD, but the hierarchical architecture is attenuated after a few steps compared to networks in Typically Developing individuals (TDs). The value of WHC (0.55) reveals architecture up to three levels (four-degree nodes) with an abundance of 2-degree hubs in ASD indicating high intra-connectivity compared to TDs (WHC=0.78; four-level spread). The explainable Support Vector Machine (SVM)-classifier model highlighted the role of WHC in classifying ASD with 98.76% of accuracy. The graph-theory metrics ensured that weaker long-range connections and stronger intra-connections are markers of ASD. Thus, it becomes evident that whole-brain architecture can be characterised by a chain-like hierarchical modular structure representing atypical brain topology as in ASD.

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20. Wang D, Zhang Y, Zhang H, Kuo F, Zhang L, Yang Y, Yan Y, Ng ML, Wang L, Yan N, Chen Y. Is visual gaze in children with autism spectrum disorder related to sequence of emotion intensity presentation? An eye-tracking study of natural emotion perception processes. Autism research : official journal of the International Society for Autism Research. 2023.

Emotion cognitive remediation is a critical component of social skills training for children with autism spectrum disorder (ASD). Visual perception of emotions is highly correlated with the intensity and sequence of presented emotions. However, few studies examined the effect of presentation sequence and intensity on emotion perception. The present study examined the gaze patterns of children with ASD in receiving different sequences of emotion presentation using eye-tracking technologies. Gaze patterns of ecologically-valid video clips of silent emotion stimuli by 51 ASD children and 34 typically developing (TD) children were recorded. Results indicated that ASD and TD children showed opposite visual fixation during different intensity presentation modes: children with ASD showed better emotion perception with a weak-to-strong emotion sequence when presented. The visual reductions in emotion perception in children with ASD may due to different perceptual threshold to emotional intensity. The extent of the reductions could be related to an individual’s Personal-Social ability. The present study supports the importance of intensity of emotions and the order at which the emotional stimuli were presented in yielding better emotion perceptions in children with ASD, suggesting that the order of emotion presentation may potentially influence emotion processing during ASD rehabilitation. It is anticipated that the present findings could bring more insights to clinicians for intervention planning in the future.

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21. Worthley E, Grzadzinski R, Zwaigenbaum L, Dager SR, Estes AM, Hazlett HC, Schultz RT, Piven J, Wolff JJ. Sensory Profiles in Relation to Later Adaptive Functioning Among Toddlers at High-Familial Likelihood for Autism. Journal of autism and developmental disorders. 2023.

This study investigated the extent to which sensory responsivity in infancy contributes to adaptive behavior development among toddlers at high-familial likelihood for autism. Prospective, longitudinal data were analyzed for 218 children, 58 of whom received an autism diagnosis. Results indicated that sensory profiles at age one year (hyperresponsivity, sensory seeking) were negatively associated with later adaptive behavior, particularly for socialization, at age 3 years regardless of diagnostic status. These results suggest that early differences in sensory responsivity may have downstream developmental consequences related to social development among young children with high-familial likelihood for autism.

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22. Zhu H, Wang J, Zhao YP, Lu M, Shi J. Contrastive Multi-view Composite Graph Convolutional Networks Based on Contribution Learning for Autism Spectrum Disorder Classification. IEEE transactions on bio-medical engineering. 2022; Pp.

The resting-state functional magnetic resonance imaging (rs-fMRI) faithfully reflects the brain activities and thus provides a promising tool for autism spectrum disorder (ASD) classification. Up to now, graph convolutional networks (GCNs) have been successfully applied in rs-fMRI based ASD classification. However, most of these methods were developed based on functional connectivities (FCs) that only reflect low-level correlation between brain regions, without integrating both high-level discriminative knowledge and phenotypic information into classification. Besides, they suffered from the overfitting problem caused by insufficient training samples. To this end, we propose a novel contrastive multi-view composite GCN (CMV-CGCN) for ASD classification using both FCs and HOFCs. Specifically, a pair of graphs are constructed based on the FC and HOFC features of the subjects, respectively, and they share the phenotypic information in the graph edges. A novel contrastive multi-view learning method is proposed based on the consistent representation of both views. A contribution learning mechanism is further incorporated, encouraging the FC and HOFC features of different subjects to have various contribution in the contrastive multi-view learning. The proposed CMV-CGCN is evaluated on 613 subjects (including 286 ASD patients and 327 NCs) from the Autism Brain Imaging Data Exchange (ABIDE). We demonstrate the performance of the method for ASD classification, which yields an accuracy of 75.20% and an area under the curve (AUC) of 0.7338. Experimental results show that our proposed method outperforms state-of-the-art methods on the ABIDE database.

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