1. Al Awaji NN, Al-Taleb SM, Albagawi TO, Alshammari MT, Sharar FA, Mortada EM. Evaluating Parents’ Concerns, Needs, and Levels of Satisfaction with the Services Provided for ASD Children in Saudi Arabia. J Multidiscip Healthc;2024;17:123-146.

BACKGROUND: Supporting children with autism spectrum disorder (ASD) and their parents is vital in improving their children’s abilities and their parents’ ability to care for them. Thus, parents’ perceptions of and levels of satisfaction with the services provided for their children must be assessed. AIM: This study aimed to understand parents’ perceptions of and satisfaction with the speech-language services (SLS) provided for ASD children in different health facilities in Saudi Arabia. METHODS: This cross-sectional study included 109 parents of ASD children. The survey included five sections dealing with (1) general information about the child; (2) assessment of the child’s ASD characteristics (including their age when diagnosed, when they first noticed symptoms, and their speech, language, and communication abilities); (3) the reasons for enrollment in SLS sessions; (4) questions about SLS; and (5) parents’ perceptions of SLS, satisfaction with the service, descriptions of their children’s progress, and the respect and support they received. RESULTS: Parents’ satisfaction levels were significantly higher when they had easy access to SLS, sufficient information and support, proper training in applying therapy exercises at home, and perceived respect and support from speech and language pathologists (SLPs). The reasons for discontinuing SLS included high session costs, the need for initial behavioral sessions, the lack of qualified SLPs, the end of the sessions, the lack of improvement, the nonavailability of specialized centers, and parents’ dependence on home training only. They also sought opportunities for work and education, continuous and intensive SLS sessions, reduced costs, centers for adults with ASD, and accessible schools. Parents’ main concerns were their children’s poor speech and language skills, independence, and social acceptance. CONCLUSION AND IMPLICATIONS: The study highlighted the importance of understanding parents’ experiences with SLS, identifying the factors that enhance SLS use by ASD children, and improving parents’ satisfaction with such services.

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2. Alrehaili RA, ElKady RM, Alrehaili JA, Alreefi RM. Exploring Early Childhood Autism Spectrum Disorders: A Comprehensive Review of Diagnostic Approaches in Young Children. Cureus;2023 (Dec);15(12):e50111.

Autism spectrum disorders (ASD) encompass a diverse range of developmental disabilities characterized by pervasive deficiencies in socialization, communication, and the manifestation of behavioral issues. This review aims to clarify the diagnostic criteria for ASD, explore available diagnostic tools, evaluate biomedical examinations facilitating ASD diagnosis, and discuss the approach to screening assessments for ASD. ASDs are prevalent conditions, with a globally estimated prevalence of 7.6 cases per 100 (one in 132), based on a comprehensive review of epidemiological studies. The precise cause of autism and other ASDs remains unknown; however, genetic and environmental factors likely contribute. Common signs and symptoms shared among individuals with autism include restricted repetitive behaviors and learning disabilities. Standardized methods, such as the Diagnostic and Statistical Manual, Fifth Edition (DSM-5), diagnostic instruments, a thorough medical history, multiple physical examinations, laboratory investigations, neuroimaging, and screening tests, play a pivotal role in early autism diagnosis and intervention. ASD is a lifelong neurodevelopmental condition characterized by multiple deficits. Early detection is anticipated to have a positive impact on outcomes.

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3. Beker S, Molholm S. Do we all synch alike? Brain-body-environment interactions in ASD. Front Neural Circuits;2023;17:1275896.

Autism Spectrum Disorder (ASD) is characterized by rigidity of routines and restricted interests, and atypical social communication and interaction. Recent evidence for altered synchronization of neuro-oscillatory brain activity with regularities in the environment and of altered peripheral nervous system function in ASD present promising novel directions for studying pathophysiology and its relationship to ASD clinical phenotype. Human cognition and action are significantly influenced by physiological rhythmic processes that are generated by both the central nervous system (CNS) and the autonomic nervous system (ANS). Normally, perception occurs in a dynamic context, where brain oscillations and autonomic signals synchronize with external events to optimally receive temporally predictable rhythmic information, leading to improved performance. The recent findings on the time-sensitive coupling between the brain and the periphery in effective perception and successful social interactions in typically developed highlight studying the interactions within the brain-body-environment triad as a critical direction in the study of ASD. Here we offer a novel perspective of autism as a case where the temporal dynamics of brain-body-environment coupling is impaired. We present evidence from the literature to support the idea that in autism the nervous system fails to operate in an adaptive manner to synchronize with temporally predictable events in the environment to optimize perception and behavior. This framework could potentially lead to novel biomarkers of hallmark deficits in ASD such as cognitive rigidity and altered social interaction.

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4. Cary E, Rao A, Matsuba ESM, Russo N. Barriers to an Autistic Identity: How RRBs may Contribute to the Underdiagnosis of Females. Res Autism Spectr Disord;2023 (Nov);109

BACKGROUND: Autistic females are frequently underdiagnosed, misdiagnosed, and/or diagnosed later in life. Restricted and Repetitive Behaviors (RRBs) are increasingly critical for diagnosis and yet are commonly rated lower in females. Whether this reflects genuinely lower levels of these traits, or if female-typical RRBs have a different phenotypic presentation that may not register on current quantitative measurement tools is unclear. METHODS: Twenty-one autistic females and 21 autistic males matched on chronological age and FSIQ completed the AQ, ADOS-2, and ADI-R. Items from the ADOS-2 and ADI-R were selected that were relevant to the four areas of restricted and repetitive behavior in the DSM-5 diagnostic criteria of autism. Using a mixed-methods analytical approach, scores and comments on these measures were compared between sexes to better characterize RRBs in autistic females. RESULTS: There were no sex differences on the AQ, which broadly assesses autistic traits. When analyzed by the four DSM-5 RRB criteria, there were no sex differences on the ADI-R when using traditional algorithm scoring that narrows questions down to those that are more sensitive and specific in capturing autism in research samples with a high proportion of males. When incorporating additional items relevant to the DSM-5 to identify sex changes in a broader pool of items, females scored higher on stereotyped movements and speech. Females also engaged in more sensory behaviors during the ADOS-2. Qualitative analyses indicated that females were more likely to engage in stereotyped body rocking and spinning, stereotyped behaviors when anxious, to show major reactions to changes, repetitive language including listing and counting, and sensory behaviors, especially in the tactile domain. CONCLUSION: Exploratory findings highlight sex differences in RRBs that may help enhance diagnostic clarity for females. Higher tactile sensory behaviors in females suggests there may be increased diagnostic sensitivity for females with the updated DSM-5 that now includes sensory components as part of the diagnostic criteria.

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5. Cleary M, West S, Johnston-Devin C, Kornhaber R, McLean L, Hungerford C. Collateral Damage: The Impacts of School Exclusion on the Mental Health of Parents Caring for Autistic Children. Issues Ment Health Nurs;2024 (Jan 8):1-6.

Despite legislative and policy mechanisms that promote inclusion in education for children with disabilities, many students still experience exclusion from the education setting. For example, autistic children are more likely than their neurotypical counterparts to be expelled or suspended from school or to refuse to attend school on an ongoing basis. This situation gives rise to various challenges for their parents. This discursive paper synthesizes current knowledge on school exclusion involving autistic children, including the causes and consequences of exclusionary practices. The paper also considers the negative impacts of these exclusionary practices on the emotional and psychological well-being of parents and caregivers. Mental health nurses who understand the issues related to school exclusion can better support the educational, social, and developmental needs of autistic children and the mental health needs of parents or caregivers.

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6. Collins MP, Johnson MC, Ryther RC, Weisenberg JL, Heydemann PT, Buhrfiend CM, Scott WA, Armstrong DMM, Kern HM, Nguyen HH. The Heart of Rett Syndrome: A Quantitative Analysis of Cardiac Repolarization. Cardiol Res;2023 (Dec);14(6):446-452.

BACKGROUND: Rett syndrome (RTT) is a developmental encephalopathy disorder that is associated with a high incidence of sudden death presumably from cardiorespiratory etiologies. Electrocardiogram (ECG) abnormalities, such as prolonged heart-rate corrected QT (QTc) interval, are markers of cardiac repolarization and are associated with potentially lethal ventricular arrhythmias. This study investigates the cardiac repolarization characteristics of RTT patients, including QTc and T-wave morphology characteristics. METHODS: A retrospective quantitative analysis on 110 RTT patients and 124 age and sex-matched healthy controls was conducted. RESULTS: RTT patients had longer QTc, more abnormal T-wave morphology, and greater heterogeneity of cardiac repolarization parameters compared to controls. Even RTT patients without prolonged QTc had more abnormal ECG and T-wave characteristics than controls. Among RTT patients, MECP2 patients had prolonged QTc compared to CDKL5 and FOXG1 patients. A subset of five RTT patients who died had normal QTc, but more abnormal T-wave morphology than the remaining RTT patients. CONCLUSIONS: Cardiac repolarization abnormalities are present in RTT patients, even without long QTc. T-wave morphology is related to RTT genotype and may be predictive of mortality. These findings could be used to help the management and monitoring of RTT patients.

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7. Fatta LM, Laugeson EA, Bianchi D, Laghi F, Scattoni ML. Program for the Education and Enrichment of Relational Skills (PEERS(®)) for Italy: A Randomized Controlled Trial of a Social Skills Intervention for Autistic Adolescents. J Autism Dev Disord;2024 (Jan 8)

The Program for the Education and Enrichment of Relational Skills (PEERS(®)) is an intervention targeting social skills for autistic adolescents and those with other social challenges. The efficacy of the PEERS(®) on adolescents has been extensively explored but the program has not been validated in Italy. In the present study, we adapted PEERS(®) to Italian culture and evaluated its efficacy in an Italian sample. A Randomized Controlled Trial was conducted, analyzing the results of 37 autistic adolescents who were randomly assigned to two groups: experimental group (TG) and waitlist group (WL). The primary outcomes (social abilities) and secondary outcomes (co-occurring conditions, executive functions) were assessed at four time points. No differences were found at pre-treatment between groups on baseline measures and primary outcomes. At post-treatment, significant group differences emerged in primary outcomes (social knowledge and social performance) and secondary outcomes (emotion regulation). The groups’ results pooled together (TG + WL) confirmed the findings at post-treatment and showed further changes in primary outcomes (global social competence and social cognition) and secondary outcomes (externalizing problems, emotive and behavioral total problems, functional problems related to depressive symptoms). The improvements were maintained at a 3-month follow-up, except for global social competence and social cognition. Additionally, new results emerged regarding internalizing problems and global executive functioning. The efficacy of the Italian version of PEERS(®) was ascertained on primary and secondary outcomes. Innovative findings on emotion regulation, behavioral problems, and depression symptoms also emerged.Clinical trial registration information Program for the Education and Enrichment of Relational Skills (PEERS(®)) for Italy. An RCT’s Study on Social Skills Intervention for Adolescents with Autism Spectrum Disorder (ASD). URL: http://clinicaltrials.gov . TRN: NCT05473104. Release Date: July 21, 2022.

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8. Ghamari R, Tahmaseb M, Sarabi-Jamab A, Etesami SA, Mohammadzadeh A, Alizadeh F, Tehrani-Doost M. Association of verbal and non-verbal theory of mind abilities with non-coding variants of OXTR in youth with autism spectrum disorder and typically developing individuals: a case-control study. BMC Psychiatry;2024 (Jan 8);24(1):30.

BACKGROUND: The ability to attribute mental states to others is called theory of mind (ToM) and is a substantial component of social cognition. This ability is abnormally developed in individuals with autism spectrum disorder (ASD). Several studies over the past decade have identified the oxytocin receptor gene (OXTR) and its variants as promising components for explaining the molecular mechanisms underlying Theory of Mind (ToM). The main aim of this study is to examine the association between rs2268498 and rs53576, two functional single nucleotide polymorphisms (SNPs), and verbal and non-verbal ToM in children and adolescents with ASD and a group of typically developing youth. METHODS: The study involved 44 children and adolescents with high-functioning ASD aged 8 to 18 years old and 44 TD individuals who were matched on age and sex. In all participants, blood samples were collected and rs2268498 and rs53576 were genotyped. Happe’s Strange Stories test and the moving shapes paradigm were used to measure verbal and non-verbal ToM in all participants. RESULTS: The results of permutation tests and logistic regression suggested that in TD group, rs2268498 AA carriers showed significant higher scores in variables representing verbal ToM (ToM stories and appropriateness score) whereas, in ASD group, rs53576 AA carriers exhibited significant better performance in parameters related to non-verbal ToM (ToM general rule and intentionality score). The results of hierarchical clustering in both groups support the findings by distinguishing between language-related and language-independent aspects of ToM. CONCLUSIONS: In the present study, we examined the association between rs2268498 and rs53576 and social functioning in individuals with ASD and TD group. We found preliminary evidence that rs2268498 and rs53576 are associated with ToM related abilities in healthy individuals as well as in autistic individuals. Accordingly, rs2268498 and rs53576 may play an important role in predicting ToM capabilities. It will be necessary to conduct further research to address the association of genetic variants with a deficit in ToM in individuals with ASD.

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9. Jenks E, Selman F, Harmens M, Boon S, Tran T, Hobson H, Eagle S, Sedgewick F. Teaching higher education staff to understand and support autistic students: evaluation of a novel training program. Front Psychiatry;2023;14:1264895.

BACKGROUND: Autistic students are particularly vulnerable to stressors within a university environment and are more likely to experience poor mental health than their non-autistic peers. Students’ experiences of stigma from staff and peers, and the masking behaviors they deploy to minimize it, can also result in worsening mental health. Despite these concerns, there is a lack of tailored support for autistic students at university. The current project assesses a co-created training course for university staff focused on debunking stereotypes, educating about the autistic experience at university, mental health presentation among autistic individuals, and practical strategies to improve interactions with autistic students. METHODS: The Autism Stigma and Knowledge Questionnaire [ASK-Q] was administered before and after the training, to examine changes in trainees’ understanding and acceptance of autism and autistic people. Post-training interviews and surveys were also conducted with trainees, covering the impact the training has had on their perceptions of autism, the strategies they found beneficial, and how they will use the materials in future. RESULTS: There were no statistically significant differences between pre- and post-training scores on the ASK-Q, likely due to ceiling effects as pre-training scores were high. Thematic analysis of interviews identified five themes: value of lived experience; developing nuanced, in-depth knowledge of autism; training as acceptable and feasible; links to professional practice; and systemic barriers. CONCLUSION: Although ceiling effects meant there were no changes to participant’s knowledge about autism and autistic people statistically, the qualitative data reveals the extensive benefits they gained from taking part in the training programs. Scoring highly on the ASK-Q did not mean that people could not learn important new information and benefit from the course. This more nuanced understanding of autism led to practical changes in their practice. Listening to and learning from autistic people was seen as particularly important, highlighting the value of co-production. Our results also emphasize the need for varied approaches to evaluating training effectiveness, as reliance on quantitative data alone would have missed the subtler, but impactful, changes our participants experienced. This has important implications for professional practice, both within higher education and more broadly.

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10. Kauley N, John JR, Barr KR, Wu WT, Grove R, Masi A, Eapen V. Predicting Communication Skills Outcomes for Preschool Children with Autism Spectrum Disorder Following Early Intervention. Neuropsychiatr Dis Treat;2024;20:35-48.

PURPOSE: This study aims to assess changes in the receptive and expressive language skills and to determine if the baseline characteristics such as communication, cognitive and motor skills, predict outcomes in preschool children with Autism Spectrum Disorder (ASD) following early intervention. METHODS: We recruited 64 children participating in the Early Start Denver Model (ESDM) early intervention program at an Autism Specific Early Learning and Care Center (ASELCC) in Australia. Baseline characteristics across various developmental domains was measured using the Mullen Scales of Early Learning (MSEL), Vineland Adaptive Behaviour Scales, 2nd Edition (VABS-II), and the ESDM Curriculum Checklist. Linear mixed-effects models were used to examine the effects of the intervention on outcomes. Fixed-effects such as time, groups (verbal and minimally verbal), and time-by-group interactions were assessed whilst adjusting for covariates. Further, multiple linear regression models were used to determine if the baseline characteristics were significant predictors of the outcomes following the early intervention. RESULTS: Among the 64 children who participated in this study, 38 children were verbal, whereas 26 were deemed to have minimal verbal skills. The mean age of the sample was 4.1 years with a significant male predilection (83%) and from a culturally and linguistically diverse (CALD) background (64%). Findings of the linear mixed effects model showed significant within and between group differences in the ESDM subscales, indicating higher magnitude of changes in the verbal group compared to the minimally verbal group. Finally, the multiple linear regression models suggested that baseline MSEL visual reception and expressive language scores were predictive of changes in the ESDM receptive and expressive communication scores. CONCLUSION: Understanding a child’s baseline skill levels may provide valuable clues regarding what interventions would work best, or which interventions may be less suitable for individual preschool-aged children with ASD.

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11. Montenegro MC, Ramírez AC, Hernandez Rodriguez J, Villalobos BT, Garrido G, Amigo C, Valdez D, Barrios N, Cukier S, Rattazzi A, Rosoli A, García R, Paula CS, Liz GP, Montiel-Nava C. Where I am from matters: factors influencing behavioral and emotional changes in autistic individuals during COVID-19 in Latin America. Front Psychiatry;2023;14:1283326.

BACKGROUND: The COVID-19 pandemic brought an increased incidence of disease and mortality in the world at large, making it a particularly salient and stressful life event. For those individuals residing in Latin America, the pandemic was met with fragmented healthcare systems, economic downturn, and sociopolitical crisis which puts autistic individuals at risk for more detrimental outcomes. Behavioral and emotional challenges experienced by autistic individuals at the beginning of the pandemic could later develop into more severe symptomatology as the pandemic progresses. The present study aimed to explore changes in dysregulated (overt and internalizing) behaviors and preoccupation with getting sick during the COVID-19 pandemic among autistic children in 7 Latin American countries. METHOD: Sample consisted of 1,743 caregivers, residing in: Argentina (n = 677, 38.8%) Brazil (n = 156, 9%), Chile (n = 251, 14.4%), Dominican Republic (n = 171, 9.8%), Mexico (n = 126, 7.2%), Uruguay (n = 259, 14.9%) and Venezuela (n = 103, 5.9%). The majority of caregivers who completed the questionnaire were mothers (85.1%), and most had a male autistic child (81.6%). A series of independent sample t-tests were conducted to assess country differences in dysregulated behaviors and preoccupation with getting sick. Linear regressions were conducted to identify which demographic characteristics and micro-level contextual factors predicted dysregulated overt behaviors and psychological changes. RESULTS: Contextual factors, such as country of residence, were related to preoccupation with getting sick and dysregulated behavior. Particularly, residing in Mexico and Brazil were related to changes in preoccupation with getting sick and mental health concerns. Coexistence predicted dysregulated internalizing behaviors, while being older significantly predicted preoccupation with getting sick. Increased screen time only predicted anxiety. CONCLUSION: Our findings highlight differences and predictions of behavioral challenges and psychological changes based on certain contextual factors and individual characteristics while experiencing severe life stressors such as a worldwide pandemic. This knowledge could help inform policies and decrees aimed at protecting those most vulnerable due to their increased difficulty adapting to change.

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12. O’Donnell MT, Schmidt RB, Butler FM. The impact of primary care access on autism spectrum disorder awareness in an underserved population. Front Public Health;2023;11:1250259.

American Academy of Pediatrics (AAP) recommendations for Autism Spectrum Disorder (ASD) screening do not specifically address safety-net clinics, which provide multidisciplinary healthcare services to underserved patients. This project explored the potential for ASD screening in safety-net clinics by assessing parental perceived knowledge of ASD at JayDoc Free Clinic, a student-run safety-net clinic in Wyandotte County, Kansas. May through December 2022, patients who reported to be the parent of a minor received a demographic survey and a Likert-style questionnaire assessing perceived knowledge of ASD, including understanding the importance of ASD screening and ASD signs and symptoms. Responses were categorized into positive, negative, and unsure. Demographic variables included the minor’s primary care provider (PCP) status. Results were analyzed using bivariate analysis, with chi-square tests for significance (p-value ≤ 0.05). Of the 52 participants who completed at least one Likert response, 55.8% reported their child had a PCP. Responses were somewhat balanced with 44.2% positive for understanding the importance of ASD screening and 53.8% positive for understanding ASD signs and symptoms. For understanding the signs and symptoms of ASD, an unsure response (32.7% of responses) was statistically associated with a lack of PCP (p = 0.017). The balance of positive with negative and unsure responses could reflect lack of ASD knowledge and may relate to healthcare inaccessibility. This is consistent with the significant association between lack of PCP and unsure responses for understanding ASD signs and symptoms. ASD screening and education in safety-net clinics like JayDoc could be valuable, particularly for children without a PCP.

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13. O’Nions E, Lewer D, Petersen I, Brown J, Buckman JEJ, Charlton R, Cooper C, El Baou C, Happé F, Manthorpe J, McKechnie DGJ, Richards M, Saunders R, Zanker C, Mandy W, Stott J. Estimating life expectancy and years of life lost for autistic people in the UK: a matched cohort study. Lancet Reg Health Eur;2024 (Jan);36:100776.

BACKGROUND: Previous research has shown that people who have been diagnosed autistic are more likely to die prematurely than the general population. However, statistics on premature mortality in autistic people have often been misinterpreted. In this study we aimed to estimate the life expectancy and years of life lost experienced by autistic people living in the UK. METHODS: We studied people in the IQVIA Medical Research Database with an autism diagnosis between January 1, 1989 and January 16, 2019. For each participant diagnosed autistic, we included ten comparison participants without an autism diagnosis, matched by age, sex, and primary care practice. We calculated age- and sex-standardised mortality ratios comparing people diagnosed autistic to the reference group. We used Poisson regression to estimate age-specific mortality rates, and life tables to estimate life expectancy at age 18 and years of life lost. We analysed the data separately by sex, and for people with and without a record of intellectual disability. We discuss the findings in the light of the prevalence of recorded diagnosis of autism in primary care compared to community estimates. FINDINGS: From a cohort of nearly 10 million people, we identified 17,130 participants diagnosed autistic without an intellectual disability (matched with 171,300 comparison participants), and 6450 participants diagnosed autistic with an intellectual disability (matched with 64,500 comparison participants). The apparent estimates indicated that people diagnosed with autism but not intellectual disability had 1.71 (95% CI: 1.39-2.11) times the mortality rate of people without these diagnoses. People diagnosed with autism and intellectual disability had 2.83 (95% CI: 2.33-3.43) times the mortality rate of people without these diagnoses. Likewise, the apparent reduction in life expectancy for people diagnosed with autism but not intellectual disability was 6.14 years (95% CI: 2.84-9.07) for men and 6.45 years (95% CI: 1.37-11.58 years) for women. The apparent reduction in life expectancy for people diagnosed with autism and intellectual disability was 7.28 years (95% CI: 3.78-10.27) for men and 14.59 years (95% CI: 9.45-19.02 years) for women. However, these findings are likely to be subject to exposure misclassification biases: very few autistic adults and older-adults have been diagnosed, meaning that we could only study a fraction of the total autistic population. Those who have been diagnosed may well be those with greater support needs and more co-occurring health conditions than autistic people on average. INTERPRETATION: The findings indicate that there is a group of autistic people who experience premature mortality, which is of significant concern. There is an urgent need for investigation into the reasons behind this. However, our estimates suggest that the widely reported statistic that autistic people live 16-years less on average is likely incorrect. Nine out of 10 autistic people may have been undiagnosed across the time-period studied. Hence, the results of our study do not generalise to all autistic people. Diagnosed autistic adults, and particularly older adults, are likely those with greater-than-average support needs. Therefore, we may have over-estimated the reduction in life expectancy experienced by autistic people on average. The larger reduction in life expectancy for women diagnosed with autism and intellectual disability vs. men may in part reflect disproportionate underdiagnosis of autism and/or intellectual disability in women. FUNDING: Dunhill Medical Trust, Medical Research Council, National Institute for Health and Care Research, and the Royal College of Psychiatrists.

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14. Otaif EA, Salih SMA, Mahfouz MS. Awareness and perceptions regarding autism among school teachers in Jazan region, Kingdom of Saudi Arabia. J Family Med Prim Care;2023 (Nov);12(11):2614-2621.

BACKGROUND: Identification of Autism Spectrum Disorder (ASD) especially at early stages is highly important to improve the quality of life and help to decrease the disease burden. This study was performed to assess the school teachers’ level of knowledge and perception regarding Autism. MATERIALS AND METHODS: An observational cross-sectional study was carried out in the Jazan region among a random sample of school teachers (males and females) who are working at the governmental primary Schools, throughout the scholastic year 2019-2020. A structured validated self-administered questionnaire was used for data collection. It includes three sections: sociodemographic information of the participants, the Autism Knowledge Questionnaire (AKQ), and statements exploring the teachers’ attitudes toward children with autism. RESULTS: The study included 403 primary school teachers. The age of 47.1% of them ranged between 35 and 44 years. Slightly more than half (50.9%) were males. Overall, the total autism knowledge score ranged between 2 and 26, out of a possible 30 with a median (interquartile range « IQR ») of 15 (12-18). Teachers who ever encountered a child with autism had higher significant knowledge scores about autism compared to their counterparts (mean ranks were 263.95 and 179.32, respectively), P < 0.001. Female compared to male teachers more significantly agreed that teachers not trained in special education should not be expected to deal with a child with autism, P = 0.018. Teachers aged between 35 and 44 years are more willing to have an autistic child in their class in compare to those ages ≥55 years that they would not want children with autism in their class, P = 0.036 and more interested in attending training in the area of childhood developmental and behavioral disorders, P = 0.010. Postgraduate teachers were more agreed than Bachelor holders that teachers not trained in special education should not be expected to deal with a child with autism, P = 0.001. Diploma-holder teachers were more agreed than postgraduates that children with autism are too impaired to benefit from activities of a general school, P = 0.019 and students with Autism should be given every opportunity to function in the regular education classroom whenever possible, P = 0.028. CONCLUSION: The knowledge about autism among primary school teachers is average in general, however, they expressed mostly positive attitudes towards autistic children.

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15. Peralta-Marzal LN, Rojas-Velazquez D, Rigters D, Prince N, Garssen J, Kraneveld AD, Perez-Pardo P, Lopez-Rincon A. A robust microbiome signature for autism spectrum disorder across different studies using machine learning. Sci Rep;2024 (Jan 8);14(1):814.

Autism spectrum disorder (ASD) is a highly complex neurodevelopmental disorder characterized by deficits in sociability and repetitive behaviour, however there is a great heterogeneity within other comorbidities that accompany ASD. Recently, gut microbiome has been pointed out as a plausible contributing factor for ASD development as individuals diagnosed with ASD often suffer from intestinal problems and show a differentiated intestinal microbial composition. Nevertheless, gut microbiome studies in ASD rarely agree on the specific bacterial taxa involved in this disorder. Regarding the potential role of gut microbiome in ASD pathophysiology, our aim is to investigate whether there is a set of bacterial taxa relevant for ASD classification by using a sibling-controlled dataset. Additionally, we aim to validate these results across two independent cohorts as several confounding factors, such as lifestyle, influence both ASD and gut microbiome studies. A machine learning approach, recursive ensemble feature selection (REFS), was applied to 16S rRNA gene sequencing data from 117 subjects (60 ASD cases and 57 siblings) identifying 26 bacterial taxa that discriminate ASD cases from controls. The average area under the curve (AUC) of this specific set of bacteria in the sibling-controlled dataset was 81.6%. Moreover, we applied the selected bacterial taxa in a tenfold cross-validation scheme using two independent cohorts (a total of 223 samples-125 ASD cases and 98 controls). We obtained average AUCs of 74.8% and 74%, respectively. Analysis of the gut microbiome using REFS identified a set of bacterial taxa that can be used to predict the ASD status of children in three distinct cohorts with AUC over 80% for the best-performing classifiers. Our results indicate that the gut microbiome has a strong association with ASD and should not be disregarded as a potential target for therapeutic interventions. Furthermore, our work can contribute to use the proposed approach for identifying microbiome signatures across other 16S rRNA gene sequencing datasets.

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16. Peterson M, Prigge MBD, Floris DL, Bigler ED, Zielinski B, King JB, Lange N, Alexander AL, Lainhart JE, Nielsen JA. Reduced Lateralization of Multiple Functional Brain Networks in Autistic Males. bioRxiv;2023 (Dec 18)

BACKGROUND: Autism spectrum disorder has been linked to a variety of organizational and developmental deviations in the brain. One such organizational difference involves hemispheric lateralization, which may be localized to language-relevant regions of the brain or distributed more broadly. METHODS: In the present study, we estimated brain hemispheric lateralization in autism based on each participant’s unique functional neuroanatomy rather than relying on group-averaged data. Additionally, we explored potential relationships between the lateralization of the language network and behavioral phenotypes including verbal ability, language delay, and autism symptom severity. We hypothesized that differences in hemispheric asymmetries in autism would be limited to the language network, with the alternative hypothesis of pervasive differences in lateralization. We tested this and other hypotheses by employing a cross-sectional dataset of 118 individuals (48 autistic, 70 neurotypical). Using resting-state fMRI, we generated individual network parcellations and estimated network asymmetries using a surface area-based approach. A series of multiple regressions were then used to compare network asymmetries for eight significantly lateralized networks between groups. RESULTS: We found significant group differences in lateralization for the left-lateralized Language (d = -0.89), right-lateralized Salience/Ventral Attention-A (d = 0.55), and right-lateralized Control-B (d = 0.51) networks, with the direction of these group differences indicating less asymmetry in autistic individuals. These differences were robust across different datasets from the same participants. Furthermore, we found that language delay stratified language lateralization, with the greatest group differences in language lateralization occurring between autistic individuals with language delay and neurotypical individuals. LIMITATIONS: The generalizability of our findings is restricted due to the male-only sample and greater representation of individuals with high verbal and cognitive performance. CONCLUSIONS: These findings evidence a complex pattern of functional lateralization differences in autism, extending beyond the Language network to the Salience/Ventral Attention-A and Control-B networks, yet not encompassing all networks, indicating a selective divergence rather than a pervasive one. Furthermore, a differential relationship was identified between Language network lateralization and specific symptom profiles (namely, language delay) of autism.

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17. Peyre H, Peries M, Madieu E, David A, Picot MC, Pickles A, Baghdadli A. Association of difficulties in motor skills with longitudinal changes in social skills in children with autism spectrum disorder: findings from the ELENA French Cohort. Eur Child Adolesc Psychiatry;2024 (Jan 8)

Developmental coordination disorder is a frequently co-occurring condition with autism spectrum disorder (ASD). Several cross-sectional studies have reported that children with difficulties in motor skills have a higher severity of ASD symptoms. This study aims to examine the association of difficulties in motor skills with longitudinal changes in social skills in children with ASD. Participants were drawn from the ELENA cohort, a French longitudinal cohort of children with ASD. Motor skills were assessed using the Movement Assessment Battery for Children at baseline, while social skills were measured using the Autism Diagnostic Observation Schedule (ADOS-2) and the Vineland Adaptive Behavior Scales (VABS-II) at both the baseline and a follow-up assessment conducted 3 years later. A composite score of social skills was created at baseline and at both time points. Linear regression models were performed to assess the association between difficulties in motor skills and changes in social skills, considering potential confounders such as IQ, age, and gender. The sample included 162 children with ASD. Children with difficulties in global motor skills (N = 114) showed less favorable trajectories in social skills compared to those without motor difficulties. The results were consistent when examining the ADOS-2 and the VABS-II separately. This study provides evidence for the negative impact of difficulties in motor skills on the longitudinal development of social skills in children with ASD. Interventions targeting motor difficulties may have broader benefits, extending beyond motor function to improve socialization.

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18. Shen Y, Zhao X, Wang K, Sun Y, Zhang X, Wang C, Yang Z, Feng Z, Zhang X. Exploring White Matter Abnormalities in Young Children with Autism Spectrum Disorder: Integrating Multi-shell Diffusion Data and Machine Learning Analysis. Acad Radiol;2024 (Jan 6)

RATIONALE AND OBJECTIVES: This study employed tract-based spatial statistics (TBSS) to investigate abnormalities in the white matter microstructure among children with autism spectrum disorder (ASD). Additionally, an eXtreme Gradient Boosting (XGBoost) model was developed to effectively classify individuals with ASD and typical developing children (TDC). METHODS AND MATERIALS: Multi-shell diffusion weighted images were acquired from 62 children with ASD and 44 TDC. Using the Pydesigner procedure, diffusion tensor (DT), diffusion kurtosis (DK), and white matter tract integrity (WMTI) metrics were computed. Subsequently, TBSS analysis was applied to discern differences in these diffusion parameters between ASD and TDC groups. The XGBoost model was then trained using metrics showing significant differences, and Shapley Additive explanations (SHAP) values were computed to assess the feature importance in the model’s predictions. RESULTS: TBSS analysis revealed a significant reduction in axonal diffusivity (AD) in the left posterior corona radiata and the right superior corona radiata. Among the DK indicators, mean kurtosis, axial kurtosis, and kurtosis fractional anisotropy were notably increased in children with ASD, with no significant difference in radial kurtosis. WMTI metrics such as axonal water fraction, axonal diffusivity of the extra-axonal space (EAS_AD), tortuosity of the extra-axonal space (EAS_TORT), and diffusivity of intra-axonal space (IAS_Da) were significantly increased, primarily in the corpus callosum and fornix. Notably, there was no significant difference in radial diffusivity of the extra-axial space (EAS_RD). The XGBoost model demonstrated excellent classification ability, and the SHAP analysis identified EAS_TORT as the feature with the highest importance in the model’s predictions. CONCLUSION: This study utilized TBSS analyses with multi-shell diffusion data to examine white matter abnormalities in pediatric autism. Additionally, the developed XGBoost model showed outstanding performance in classifying ASD and TDC. The ranking of SHAP values based on the XGBoost model underscored the significance of features in influencing model predictions.

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19. Suda M, Ikeda T, Kikuchi M. Visual working memory resolution defined by figural complexity in kindergarten children. J Vis;2024 (Jan 2);24(1):4.

Visual working memory (VWM) allows us to store and manipulate incoming visual information briefly. Information acquisition (i.e., encoding) accuracy is critical for VWM to function properly. The accuracy of very young children’s VWM encoding has not been explained adequately in previous studies. Therefore, this study clarified it by manipulating the complexity of the visual stimuli and examining kindergarten children’s performance in a recognition task. Furthermore, we examined the relationship between encoding accuracy and the 4- to 6-year-old children’s individual traits in a subanalysis, as individual traits (such as IQ and attention to detail-a trait of autism spectrum disorder) reportedly affect VWM capacity. The results revealed that distinguishing between target and probe stimuli becomes more difficult as stimulus and discrimination complexity increase. In addition, this study results in narrow attention (attention to detail) that could contribute to VWM capacity saving if VWM capacity is sufficient. However, if the VWM’s capacity is exceeded, the relationship with IQ, such as the simultaneous processing score, is strengthened. This study clarified the degree of accuracy of information retained by preschool children aged 4 to 6 years. In addition to providing basic knowledge about VWM, we believe the findings can be useful in education and other fields.

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20. Sun N, Teyssier N, Wang B, Drake S, Seyler M, Zaltsman Y, Everitt A, Teerikorpi N, Willsey HR, Goodarzi H, Tian R, Kampmann M, Willsey AJ. Autism genes converge on microtubule biology and RNA-binding proteins during excitatory neurogenesis. bioRxiv;2024 (Jan 2)

Recent studies have identified over one hundred high-confidence (hc) autism spectrum disorder (ASD) genes. Systems biological and functional analyses on smaller subsets of these genes have consistently implicated excitatory neurogenesis. However, the extent to which the broader set of hcASD genes are involved in this process has not been explored systematically nor have the biological pathways underlying this convergence been identified. Here, we leveraged CROP-Seq to repress 87 hcASD genes in a human in vitro model of cortical neurogenesis. We identified 17 hcASD genes whose repression significantly alters developmental trajectory and results in a common cellular state characterized by disruptions in proliferation, differentiation, cell cycle, microtubule biology, and RNA-binding proteins (RBPs). We also characterized over 3,000 differentially expressed genes, 286 of which had expression profiles correlated with changes in developmental trajectory. Overall, we uncovered transcriptional disruptions downstream of hcASD gene perturbations, correlated these disruptions with distinct differentiation phenotypes, and reinforced neurogenesis, microtubule biology, and RBPs as convergent points of disruption in ASD.

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21. Tan DPW, Carter O, Marshall DR, Perrykkad K. Agency in schizophrenia and autism: a systematic review. Front Psychol;2023;14:1280622.

INTRODUCTION: Previous research suggests that altered experiences of agency are an underlying vulnerability in both schizophrenia and autism. Here, we explore agency as a potential transdiagnostic factor by conducting a systematic review of existing literature investigating agency in autism and schizophrenia individually and together. METHODS: Following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, we conducted three systematic searches on PsycINFO, Embase, Medline, PubMed and Web of Science to identify studies that investigated (1) agency in schizophrenia, (2) agency in autism, and (3) agency in both schizophrenia and autism. RESULTS: A total of 31 articles met eligibility criteria for inclusion and data extraction, with 24 measuring agency in schizophrenia, 7 investigating agency in autism, and no articles comparing the two. Results show that, compared to control populations, agency is significantly different in every identified schizophrenia study and generally not significantly different in autism. DISCUSSION: Importantly, we identified a lack of studies using common tasks and a disproportionate number of studies investigating different dimensions of agency across the two conditions, resulting in limited grounds for valid comparison. SYSTEMATIC REVIEW REGISTRATION: Prospero, CRD42021273373.

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22. Toumaian M, Covanis P, Mantas A, Karantinos T, Kayas S, Kentikeleni A, Vatakis A, Klein C, Smyrnis N. Multisensory integration deficits in Schizophrenia and Autism evidenced in behaviour but not event related potentials. Psychiatry Res;2024 (Feb);332:115727.

The process of integrating information from different sensory channels, known as multisensory integration (MSI) was assessed in two disorders, Autism Spectrum Disorder (ASD) and Schizophrenia (SCZ). 32 healthy controls (HC), 35 SCZ patients, and 23 ASD patients performed an audiovisual (AV) synchronous target detection task while reaction time (RT) and scalp recorded electrophysiological (EEG) activity were measured. MSI in the AV condition resulted in faster and less variable RTs compared to the unimodal conditions. Using our novel bootstrap method, MSI gain was observed in 78 % of HC, 26 % of ASD, and 48 % of SCZ patients. At the neural level, MSI in the AV condition resulted in larger amplitude of sensory evoked responses and cognitive P3 response compared to the corresponding unimodal conditions. These neural effects of MSI were not related to the behavioural MSI gain identified at the individual level and could not explain the deficits in behavioural MSI of patient groups. In conclusion, a robust MSI gain deficit in RT was observed in both patient groups that was not reflected in early perceptual and cognitive electro-cortical responses, suggesting that behavioural MSI deficits in ASD and SCZ may arise at late processing stages such as response selection.

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23. Zeng S, Sardar A, Beckstein A, Mohamed NH, Shen R, Xiu Y. Developing a new questionnaire of positive contributions to Chinese families by children with autism spectrum disorder. Autism Dev Lang Impair;2024 (Jan-Dec);9:23969415231221520.

BACKGROUND AND AIMS: A literature review of both Eastern and Western literature regarding families of children with autism spectrum disorder (ASD) revealed limited empirical research that examines ASD in China. Furthermore, most research in this area comes from a deficit model and there is a lack of research that comes from a strengths background. No previous study in China has looked at the positive contributions of children with ASD to their families. The present study came from a strengths-based perspective and aimed to develop a new questionnaire to evaluate the positive contributions made to families by children who have ASD in China and are raised by their respective families. It considered the severity level of the children’s disorder and the impact this had on the parents. Besides examining the children’s impairment levels, the study also examined positive contributions and their relationship with socio-demographic elements such as family income and employment status of the parents, which also seem to be related to the positive contributions experienced by the parents. METHODS: First, based on the literature review, an initial qualitative interview protocol was developed and administered to 10 parents of children with ASD. Then, based on the analyses of the interviews, a quantitative questionnaire was developed to assess the positive contributions of children with ASD to their families. The questionnaire was then administered to 156 parents of children with ASD. The internal structure of the questionnaire was analyzed by factor analysis. The questionnaire’s reliability and validity were also examined. The data were then analyzed with multiple correlation comparisons and an independent sample T-test. RESULTS: Six factors emerged for families of children with ASD. The results showed that the cumulative explanatory variance of the six dimensions of the questionnaire was 65.42%. The Cronbach’s coefficient of each dimension was between 0.7 and 0.9, and the combined Cronbach’s coefficient of the total questionnaire was 0.945. This study found that the overall average positive contribution to families by children with ASD was 3.32, which is at a medium level, and all six dimensions were at a medium-to-high level. This study also found that the family’s monthly income contributed to the overall positive contribution, intimacy and happiness, and gaining more special knowledge through experience dimensions. Furthermore, it was found that moderate severity of ASD, high income, and parental employment were all associated with more positive contributions. CONCLUSION: This new questionnaire appears to have good reliability and validity and seems suitable for assessing the positive contributions to families by children with ASD in China. IMPLICATIONS: The present study may be helpful for the parents of children with ASD and will likely help them focus on the strengths of their children rather than their shortcomings. The study might also benefit counselors and researchers who would be able to use the new questionnaire to evaluate the positive contributions made to families by children who have ASD.

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24. Ziv I, Avni I, Dinstein I, Meiri G, Bonneh YS. Oculomotor randomness is higher in autistic children and increases with the severity of symptoms. Autism Res;2024 (Jan 8)

A variety of studies have suggested that at least some children with autism spectrum disorder (ASD) view the world differently. Differences in gaze patterns as measured by eye tracking have been demonstrated during visual exploration of images and natural viewing of movies with social content. Here we analyzed the temporal randomness of saccades and blinks during natural viewing of movies, inspired by a recent measure of « randomness » applied to micro-movements of the hand and head in ASD (Torres et al., 2013; Torres & Denisova, 2016). We analyzed a large eye-tracking dataset of 189 ASD and 41 typically developing (TD) children (1-11 years old) who watched three movie clips with social content, each repeated twice. We found that oculomotor measures of randomness, obtained from gamma parameters of inter-saccade intervals (ISI) and blink duration distributions, were significantly higher in the ASD group compared with the TD group and were correlated with the ADOS comparison score, reflecting increased « randomness » in more severe cases. Moreover, these measures of randomness decreased with age, as well as with higher cognitive scores in both groups and were consistent across repeated viewing of each movie clip. Highly « random » eye movements in ASD children could be associated with high « neural variability » or noise, poor sensory-motor control, or weak engagement with the movies. These findings could contribute to the future development of oculomotor biomarkers as part of an integrative diagnostic tool for ASD.

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