Pubmed du 12/04/24

Pubmed du jour

1. Adams D. Brief Report: Single-Session Interventions for Mental Health Challenges in Autistic People: An (Almost) Empty Systematic Review. J Autism Dev Disord. 2024.

Single-session interventions (specific, structured programs that intentionally involve just one visit or encounter with a clinic, provider, or program) have been proven to prevent or reduce mental health challenges and reduce barriers to access. This review aimed to identify and synthesise literature on the acceptability, feasibility, effectiveness, or efficacy of (non-pharmacological) single-session interventions for autistic people. Four databases (Scopus, MEDLINE, PsycINFO, and ProQuest) were searched in 12.7.2023, with no date restrictions. Search terms were selected to identify articles reporting on single-session interventions in autistic people. Two raters screened titles/abstracts of 286 articles and full text of 17 articles, resulting in just two included articles, reporting on 46 participants. Risk of bias was assessed with the Quality Assessment with Diverse Studies (QuADS). The two included papers report on specific techniques taught within a single visit to a clinic using pre- and immediate post-intervention questionnaires. One study also reported on cortisol levels pre and post. Neither study reported on acceptability or feasibility of single-session interventions. However, there was insufficient quality evidence to evaluate the effectiveness or efficacy of single-session interventions for autistic people. Although there is substantial research on single-session interventions in the broader population, there is a lack of research into such approaches for autistic people. This is a missed opportunity to evaluate a potential means of support for those at elevated risk of mental health challenges and unmet mental health service need. Future research should co-produce and co-evaluate such approaches as a priority.

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2. Alharbi MH. Parents’ perceptions of the impact of the novel coronavirus (COVID-19) on the eating behaviors and routines of children with autism spectrum disorders (ASD). Front Psychiatry. 2024; 15: 1296643.

BACKGROUND: Restricted interests and repetitive behavior are characteristics of autism spectrum disorder (ASD). The likelihood that persons with ASD will respond adversely to unfamiliar situations is great. The novel coronavirus outbreak has resulted in disruptions to all aspects of routine and behavior. Hence, this study proposed to investigate the impact of the outbreak on the eating behavior and routines of children with ASD in Saudi Arabia through the perceptions of their parents. METHOD: A cross-sectional study with a quantitative approach was utilized to obtain data from 150 parents of children with ASD aged ≤18 years in Saudi Arabia. The data collected included demographic data of the parents, the ASD status of the family, impact of COVID-19 to the family, eating behavior of the children with ASD, and daily routines of the children with ASD. Moreover, parents were able to provide comments regarding their children’s eating behavior or daily routines. RESULTS: The study found that changes in the eating behavior of children with ASD were found to differ significantly (p<0.05) based on the number of children with ASD, the age of the children with ASD, the gender of the children with ASD, and the severity of their ASD symptoms. Moreover, changes to dinner-time routines were found to differ significantly (p<0.05) based on the age of the children with ASD. Also, changes to morning routines were found to differ significantly (p<0.05) based on the age of the children with ASD, their gender, and the severity of their ASD symptoms. Additionally, impact of COVID-19 to the family had a significant impact to eating behavior and daily routines of the children with ASD. CONCLUSION: This study found that the eating behavior and daily routines of children with ASD in Saudi Arabia have been considerably worsened and changed. The study recommends the collaboration of multidisciplinary teams and parents to modify or design interventions that help to change their eating behavior and routine can be implemented in the home. It also recommends the provision of virtual helplines to aid parents of children with ASD in such cases.

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3. Dong L, Fan R, Shen B, Bo J, Pang Y, Song Y. A comparative study on fundamental movement skills among children with autism spectrum disorder and typically developing children aged 7-10. Front Psychol. 2024; 15: 1287752.

BACKGROUND: Autism Spectrum Disorder (ASD) is a neurodevelopmental condition with unique differences in social interaction, communication, and a spectrum of behavioral characteristics. In the past, motor disturbance in individuals with ASD has not been considered a significant core deficit due to the predominant focus on sociability and communication issues. However, recent studies indicate that motor deficits are indeed associated with the fundamental symptoms of ASD. As there is limited research on the motor behavior of children with ASD, particularly in China, the objective of this study is to investigate the development of fundamental movement skills (FMS) in children with ASD and compare them to typically developing children. METHOD: The study recruited 108 children with ASD (87 boys, 21 girls) aged 7-10 years from two special education rehabilitation centers in Wuhan, China. For comparison, a control group of 108 typically developing children, matched by age and gender, was randomly selected from three local primary schools. FMS were assessed using the Movement Assessment Battery for Children – Second Edition (MABC-2), which evaluates manual dexterity, aiming and catching, as well as static and dynamic balance. Group differences on MABC-2 percentile scores were analyzed using descriptive statistics and Mann-Whitney U test. Effect sizes were also calculated for practical significance. RESULTS: Findings from the study showed that a significant majority, around 80%, of children with ASD either displayed motor challenges or were at risk of developing such delays. When comparing to their typically developing peers, children with ASD scored notably lower in areas of manual dexterity, ball skills, and both static and dynamic balance (with all these findings being statistically significant at p < 0.001). Interestingly, gender did not show a significant influence on these results (p > 0.05). CONCLUSION: In addition to addressing the other skill development areas outlined in the diagnostic manual for ASD, clinicians diagnosing and treating children with ASD should also assess the presence of motor skill development. For individuals with ASD who have co-existing motor difficulties, it is essential to offer evidence-based interventions tailored to their specific needs.

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4. Duvall SW, Greene RK, Phelps R, Rutter TM, Markwardt S, Grieser Painter J, Cordova M, Calame B, Doyle O, Nigg JT, Fombonne E, Fair D. Factors Associated with Confirmed and Unconfirmed Autism Spectrum Disorder Diagnosis in Children Volunteering for Research. J Autism Dev Disord. 2024.

PURPOSE: Diagnostic accuracy of autism spectrum disorder (ASD) is crucial to track and characterize ASD, as well as to guide appropriate interventions at the individual level. However, under-diagnosis, over-diagnosis, and misdiagnosis of ASD are still prevalent. METHODS: We describe 232 children (M(Age) = 10.71 years; 19% female) with community-based diagnoses of ASD referred for research participation. Extensive assessment procedures were employed to confirm ASD diagnosis before study inclusion. The sample was subsequently divided into two groups with either confirmed ASD diagnoses (ASD+) or unconfirmed/inaccurate diagnoses (ASD-). Clinical characteristics differentiating the groups were further analyzed. RESULTS: 47% of children with community-based ASD diagnoses did not meet ASD criteria by expert consensus. ASD + and ASD- groups did not differ in age, gender, ethnicity, or racial make-up. The ASD + group was more likely to have a history of early language delays compared to the ASD- group; however, no group differences in current functional language use were reported by caregivers. The ASD + group scored significantly higher on ADI-R scores and on the ADOS-2 algorithm composite scores and calibrated severity scores (CSSs). The ASD- group attained higher estimated IQ scores and higher rates of psychiatric disorders, including anxiety disorder, disruptive behavior, and mood disorder diagnoses. Broadly, caregiver questionnaires (SRS-2, CCC-2) did not differentiate groups. CONCLUSION: Increased reported psychiatric disorders in the ASD- group suggests psychiatric complexity may contribute to community misdiagnosis and possible overdiagnosis of ASD. Clinician-mediated tools (ADI-R, ADOS-2) differentiated ASD + versus ASD- groups, whereas caregiver-reported questionnaires did not.

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5. Feng XW, Hadizadeh M, Cheong JPG. Effects of Family-Professional Partnerships in Adapted Physical Education on the Fundamental Motor Skills, Adaptive Behaviors, and Physical Activity Levels of Children with Autism Spectrum Disorder and on Parent Satisfaction. J Autism Dev Disord. 2024.

PURPOSE: This study aimed to explore the effect of family-professional partnerships in adapted physical education on the fundamental motor skills, physical activity levels, and adaptive behaviors of children with autism spectrum disorder (ASD) and on parental satisfaction. METHODS: A randomized controlled trial design was used, with pre-and post-intervention evaluations. Participants (n = 40), including children with ASD and their parents, were divided into three groups: (a) a family-school group (FSG-A, n = 14), (b) a school group (SG-B, n = 13), and (c) a control group (CG-C, n = 13). RESULTS: After 12 weeks of intervention, the within-group comparison revealed that the FSG-A performed better than the SG-B and CG-C for all variables. The among-group comparison further revealed that the FSG-A had greater fundamental motor skill scores than the SG-B (p = 0.021) and CG-C (p < 0.001), had greater adaptive behavior and family-professional partnership scores than the SG-B and CG-C (p < 0.001 for all), and had higher physical activity levels than the SG-B (p < 0.05) and CG-C (p < 0.001). CONCLUSION: This study underscores the significance of robust family-professional partnerships in exercise interventions for children with ASD.

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6. Henis M, Rücker T, Scharrenberg R, Richter M, Baltussen L, Hong S, Meka DP, Schwanke B, Neelagandan N, Daaboul D, Murtaza N, Krisp C, Harder S, Schlüter H, Kneussel M, Hermans-Borgmeyer I, de Wit J, Singh KK, Duncan KE, de Anda FC. The autism susceptibility kinase, TAOK2, phosphorylates eEF2 and modulates translation. Sci Adv. 2024; 10(15): eadf7001.

Genes implicated in translation control have been associated with autism spectrum disorders (ASDs). However, some important genetic causes of autism, including the 16p11.2 microdeletion, bear no obvious connection to translation. Here, we use proteomics, genetics, and translation assays in cultured cells and mouse brain to reveal altered translation mediated by loss of the kinase TAOK2 in 16p11.2 deletion models. We show that TAOK2 associates with the translational machinery and functions as a translational brake by phosphorylating eukaryotic elongation factor 2 (eEF2). Previously, all signal-mediated regulation of translation elongation via eEF2 phosphorylation was believed to be mediated by a single kinase, eEF2K. However, we show that TAOK2 can directly phosphorylate eEF2 on the same regulatory site, but functions independently of eEF2K signaling. Collectively, our results reveal an eEF2K-independent signaling pathway for control of translation elongation and suggest altered translation as a molecular component in the etiology of some forms of ASD.

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7. Huntjens A, van den Bosch L, Sizoo B, Kerkhof A, Smit F, van der Gaag M. The effectiveness and safety of dialectical behavior therapy for suicidal ideation and behavior in autistic adults: a pragmatic randomized controlled trial. Psychol Med. 2024: 1-12.

BACKGROUNDS: Many autistic people in mental health are suicidal. This study evaluated the effectiveness of dialectical behavior therapy (DBT) v. treatment as usual (TAU) in reducing suicidal ideation and suicide attempts. METHODS: At six Dutch mental health centers, 123 outpatients (18-65 years) with DSM-5 diagnosed autism spectrum disorder (ASD) and suicidal behavior were randomly assigned to the DBT intervention group (n = 63) or TAU control group (n = 60). Assessments were conducted at baseline, post-treatment at 6 months and 12-month follow-up. The primary outcomes were severity of suicidal ideation and frequency of suicide attempts. The severity of depression and social anxiety were secondary outcomes. RESULTS: At end-of-treatment, DBT significantly reduced both suicidal ideation (z = -2.24; p = 0.025; b = -4.41; s.e. = 197.0) and suicide attempts (z = -3.15; p = 0.002; IRR = 0.046; s.e. = 0.045) compared to TAU, but lost statistical significance at the 12-month follow-up. Depression severity significantly decreased with DBT (z = -1.99; p = 0.046: b = -2.74; s.e. = 1.37) remaining so at 12 months (z = -2.46; p = 0.014; b = -3.37; s.e. = 1.37). No effects were observed on social anxiety. Severe adverse events included two suicides in the TAU condition. CONCLUSIONS: DBT is an acceptable, safe, and short-term effective intervention to reduce suicidal ideation and suicide attempts in autistic adults with suicidal behavior.

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8. Li G, Zarei MA, Alibakhshi G, Labbafi A. Teachers and educators’ experiences and perceptions of artificial-powered interventions for autism groups. BMC Psychol. 2024; 12(1): 199.

BACKGROUND: Artificial intelligence-powered interventions have emerged as promising tools to support autistic individuals. However, more research must examine how teachers and educators perceive and experience these AI systems when implemented. OBJECTIVES: The first objective was to investigate informants’ perceptions and experiences of AI-empowered interventions for children with autism. Mainly, it explores the informants’ perceived benefits and challenges of using AI-empowered interventions and their recommendations for avoiding the perceived challenges. METHODOLOGY: A qualitative phenomenological approach was used. Twenty educators and parents with experience implementing AI interventions for autism were recruited through purposive sampling. Semi-structured and focus group interviews conducted, transcribed verbatim, and analyzed using thematic analysis. FINDINGS: The analysis identified four major themes: perceived benefits of AI interventions, implementation challenges, needed support, and recommendations for improvement. Benefits included increased engagement and personalized learning. Challenges included technology issues, training needs, and data privacy concerns. CONCLUSIONS: AI-powered interventions show potential to improve autism support, but significant challenges must be addressed to ensure effective implementation from an educator’s perspective. The benefits of personalized learning and student engagement demonstrate the potential value of these technologies. However, with adequate training, technical support, and measures to ensure data privacy, many educators will likely find integrating AI systems into their daily practices easier. IMPLICATIONS: To realize the full benefits of AI for autism, developers must work closely with educators to understand their needs, optimize implementation, and build trust through transparent privacy policies and procedures. With proper support, AI interventions can transform how autistic individuals are educated by tailoring instruction to each student’s unique profile and needs.

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9. Luo T, Pan J, Zhu Y, Wang X, Li K, Zhao G, Li B, Hu Z, Xia K, Li J. Association between de novo variants of nuclear-encoded mitochondrial-related genes and undiagnosed developmental disorder and autism. Qjm. 2024; 117(4): 269-76.

BACKGROUND: Evidence suggests that mitochondrial abnormalities increase the risk of two neurodevelopmental disorders: undiagnosed developmental disorder (UDD) and autism spectrum disorder (ASD). However, which nuclear-encoded mitochondrial-related genes (NEMGs) were associated with UDD-ASD is unclear. AIM: To explore the association between de novo variants (DNVs) of NEMGs and UDD-ASD. DESIGN: Comprehensive analysis based on DNVs of NEMGs identified in patients (31 058 UDD probands and 10 318 ASD probands) and 4262 controls. METHODS: By curating NEMGs and cataloging publicly published DNVs in NEMGs, we compared the frequency of DNVs in cases and controls. We also applied a TADA-denovo model to highlight disease-associated NEMGs and characterized them based on gene intolerance, functional networks and expression patterns. RESULTS: Compared with levels in 4262 controls, an excess of protein-truncating variants and deleterious missense variants in 1421 cataloged NEMGs from 41 376 patients (31 058 UDD and 10 318 ASD probands) was observed. Overall, 3.23% of de novo deleterious missense variants and 3.20% of de novo protein-truncating variants contributed to 1.1% and 0.39% of UDD-ASD cases, respectively. We prioritized 130 disease-associated NEMGs and showed distinct expression patterns in the developing human brain. Disease-associated NEMGs expression was enriched in both excitatory and inhibitory neuronal lineages from the developing human cortex. CONCLUSIONS: Rare genetic alterations of disease-associated NEMGs may play a role in UDD-ASD development and lay the groundwork for a better understanding of the biology of UDD-ASD.

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10. Mazur LE, Even KM, Krawiec C. Retrospective Analysis of Burn Injuries in Children with Autism Spectrum Disorder. J Autism Dev Disord. 2024.

Children with neurodevelopmental disorders are at risk for burn injury, but the clinical outcomes, particularly mortality, are unknown in this patient population in the United States (U.S.). The main objectives of this study are to evaluate (1) subject characteristics; (2) burn injury type; (3) clinical care provided; and (4) mortality in children with autism spectrum disorder (ASD), hypothesizing that this patient population has similar mortality and critical care management requirements when compared to children without ASD. This is a retrospective observational cohort study utilizing the TriNetX ® electronic health record database of subjects aged 0 to 18 years with burn injury associated diagnostic codes. Data were analyzed for demographics, diagnostic, medication, procedural codes, and mortality. We analyzed 99,323 subjects (n, %) coded for a burn injury [3083 (3.1%) with ASD and 96,240 (96.9%) without ASD]. Children with ASD had a higher odds of 1-year all-cause mortality [1.9 (1.06, 3.40), p = 0.004], need for critical care services [1.88 (1.40, 2.52), p < 0.001], and mechanical ventilation [2.69 (1.74, 4.17), p < 0.001] compared to those without. Our study found that U.S. children with ASD who had a burn injury had a higher odds of mortality and critical care needs when compared to children without ASD. Future studies are needed to understand the impact of burn injuries and factors associated with mortality in this patient population.

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11. Mukerji CE, Wilson JS, 3rd, Wilkinson CL, Krol MA, Nelson CA, Tager-Flusberg H. Resting Frontal Gamma Power is Associated with Both Expressive Language and Non-verbal Cognitive Abilities in Young Autistic Children. J Autism Dev Disord. 2024.

Previous research links resting frontal gamma power to key developmental outcomes in young neurotypical (NT) children and infants at risk for language impairment. However, it remains unclear whether gamma power is specifically associated with language or with more general cognitive abilities among young children diagnosed with autism spectrum disorder (ASD). The current study evaluates differences in resting frontal gamma power between young autistic and NT children and tests whether gamma power is uniquely associated with individual differences in expressive language, receptive language and non-verbal cognitive abilities in autistic and NT children. Participants included 48 autistic children and 58 age- and sex-matched NT children (ages 22-60 months). Baseline electroencephalography (EEG) recordings were acquired from each participant. Children also completed the Mullen Scales of Early Learning (MSEL). We found that frontal gamma power at rest did not differ between autistic and NT children. Among autistic children, reduced frontal gamma power was significantly associated with both higher expressive language skills and higher non-verbal cognitive skills, controlling for age and sex. The interaction between frontal gamma power and diagnostic status no longer explained unique variance in expressive language skills after controlling for variance associated with non-verbal cognitive skills across autistic and NT children. Together, these findings suggest that reduced gamma power is associated with both better expressive language and non-verbal cognitive skills among young autistic children. Moreover, associations between high frequency neural activity and cognition are not specific to verbal abilities but reflect neural mechanisms associated with general higher-order cognitive abilities in ASD.

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12. Padovan-Neto FE, Cerveira AJO, da Silva A, Ribeiro DL. Beyond traditional pharmacology: evaluating phosphodiesterase inhibitors in autism spectrum disorder. Neuropsychopharmacology. 2024.

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13. Pereira DJ, Morais S, Sayal A, Pereira J, Meneses S, Areias G, Direito B, Macedo A, Castelo-Branco M. Neurofeedback training of executive function in autism spectrum disorder: distinct effects on brain activity levels and compensatory connectivity changes. J Neurodev Disord. 2024; 16(1): 14.

BACKGROUND: Deficits in executive function (EF) are consistently reported in autism spectrum disorders (ASD). Tailored cognitive training tools, such as neurofeedback, focused on executive function enhancement might have a significant impact on the daily life functioning of individuals with ASD. We report the first real-time fMRI neurofeedback (rt-fMRI NF) study targeting the left dorsolateral prefrontal cortex (DLPFC) in ASD. METHODS: Thirteen individuals with autism without intellectual disability and seventeen neurotypical individuals completed a rt-fMRI working memory NF paradigm, consisting of subvocal backward recitation of self-generated numeric sequences. We performed a region-of-interest analysis of the DLPFC, whole-brain comparisons between groups and, DLPFC-based functional connectivity. RESULTS: The ASD and control groups were able to modulate DLPFC activity in 84% and 98% of the runs. Activity in the target region was persistently lower in the ASD group, particularly in runs without neurofeedback. Moreover, the ASD group showed lower activity in premotor/motor areas during pre-neurofeedback run than controls, but not in transfer runs, where it was seemingly balanced by higher connectivity between the DLPFC and the motor cortex. Group comparison in the transfer run also showed significant differences in DLPFC-based connectivity between groups, including higher connectivity with areas integrated into the multidemand network (MDN) and the visual cortex. CONCLUSIONS: Neurofeedback seems to induce a higher between-group similarity of the whole-brain activity levels (including the target ROI) which might be promoted by changes in connectivity between the DLPFC and both high and low-level areas, including motor, visual and MDN regions.

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14. Terol AK, Meadan H, Gómez LR, Magaña S. Cultural adaptation of an intervention for caregivers of young autistic children: Community members’ perspectives. Fam Process. 2024.

Caregivers of autistic children in low-to-middle-income countries experience many barriers to access resources to support their child’s development. Caregiver training is considered an evidence-based practice and may be a cost-effective way to support caregivers of autistic children in such settings. This study focuses on the cultural adaptation of Parents Taking Action (PTA; Magaña et al., Family Process, 56, 57-74, 2017) to support caregivers of autistic children in Paraguay. We conducted focus groups and individual interviews with 28 caregivers, autistic individuals, and professionals in Paraguay to understand caregivers’ needs and to explore needed cultural adaptations of PTA to achieve contextual fit. Participants identified caregivers’ need for accurate and reliable information, strategies to support children’s growth, and emotional support and strategies to manage stress. Additionally, participants provided recommendations for adapting PTA considering the dimensions within the Cultural Adaptation Checklist (Lee et al., International Journal of Developmental Disabilities, 2023). This study is the first step in the iterative process of culturally adapting an intervention and the process described in this study may be appropriate for culturally adapting other interventions.

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15. Yanai T, Yoshida S, Kawakami K. The Association Between Children’s Autism Spectrum Disorders and Central Nervous System Infections: Using a Nationwide Claims Database. J Autism Dev Disord. 2024.

Several studies have reported an association of autism spectrum disorder (ASD) with central nervous system (CNS) infections and intrauterine infections; however, the results remain unclear. This study aimed to examine this issue using an extensive national database. Utilizing JMDC medical claims database, we conducted a retrospective cohort study of children with at least three years of follow-up from birth, ensuring the mother’s information was available. The focus was on the relationship between ASD incidence and exposures like viral meningitis/encephalitis, bacterial meningitis, and intrauterine infections. Cox proportional hazards was used to calculate hazard ratios (HRs) with covariates such as presence of maternal history of mental illness, preterm, low birth weight, respiratory and cardiac disorder, epilepsy, and cranial malformations. Sensitivity analysis was performed on sibling and multiple birth cohorts to adjust for genetic factors. Out of 276,195 mother-child pairs, bacterial meningitis was observed in 1326 (0.5%), viral meningitis/encephalitis in 6066 (2.2%), intrauterine infection in 3722 (1.3%), and ASD in 14,229 (5.2%) children. The adjusted HRs (95% confidence interval, p value) for ASD were 1.40 (1.25-1.57, p < 0.001), 1.14 (1.02-1.26, p = 0.013), and 1.06 (0.87-1.30, p = 0.539) for viral meningitis/encephalitis, intrauterine infection, and bacterial meningitis, respectively. After sensitivity analysis, the HRs for viral meningitis/encephalitis and ASD remained significantly high. Viral meningitis/encephalitis may be an independent risk factor for ASD. Awareness of this risk among healthcare professionals can lead to early intervention and potentially improved outcomes for affected children.

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16. Yoon WH, Seo J, Je C. Korean autistic persons facing systemic stigmatization from middle education schools: daily survival on the edge as a puppet. Front Psychiatry. 2024; 15: 1260318.

INTRODUCTION: Korean autistic persons who have endured an integrated secondary education system have been exposed to school bullying, causing trauma and stigma to them. It also blocks them from entering a tertiary education system and a decent work, resulting in a lower quality of life. However, research on how it affects autistic persons has not yet been conducted in Korea. METHODS: Fourteen adult autistic persons in the Republic of Korea participated in the semi-structured focused group interviews. Their conversations were analyzed through qualitative coding. RESULTS: The interview results show the rare voice of Korean autistic people. Although interviewees experienced physical, verbal, and sexual violence against them during the secondary education period, they could not get substantial assistance from schools and society. Interviewees agreed that bullying is inherent in the secondary education system of Korea, even in Korean culture. They experienced the cause of bullying being attributed to them as victims rather than perpetrators, and impunity is given to the bullying assailants. Early analyses of this article confirm that such experiences are combined with the sociocultural climate of elitism, meritocracy, and authoritarianism in the Republic of Korea. CONCLUSION: The study confirmed that the autistic person’s bullying experience does not come from the social inability of autistic people but the « profound » competition and discriminative atmosphere of the society. The result urges further studies on the bullying experience of East Asian autistic persons and the construction of Korean intervention strategies to prevent school violence against Koreans with disabilities, especially autistic pupils.

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17. Zare MJ, Ahmadi A, Dehbozorgi S, Zare M, Hejazi N. The Association Between Children’s Dietary Inflammatory Index (C-DII) and Nutrient Adequacy with Gastrointestinal Symptoms, Sleep Habits, and Autistic Traits. J Autism Dev Disord. 2024.

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