1. Beversdorf DQ, Anagnostou E, Hardan A, Wang P, Erickson CA, Frazier TW, Veenstra-VanderWeele J. Editorial: Precision medicine approaches for heterogeneous conditions such as autism spectrum disorders (The need for a biomarker exploration phase in clinical trials – Phase 2m). Frontiers in psychiatry. 2022; 13: 1079006.

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2. Byiers BJ, Merbler AM, Burkitt CC, Beisang A, Symons FJ. Preliminary assessment of the reliability and validity of infrared skin temperature measurements in Rett syndrome. Journal of intellectual disability research : JIDR. 2023.

BACKGROUND: As clinical trials for Rett syndrome are underway, there is a need to validate potential supplemental outcome measures that reflect important signs and symptoms. Autonomic dysfunction, particularly vasomotor dysfunction, is one potential area for which biomarkers could be developed. METHODS: In the current study, infrared thermal images of hands and feet from 26 females with Rett syndrome (aged 62 months to 39 years), and 17 females without known intellectual, genetic or neurological disorders (aged 55 months to 39 years) were collected. Between-group differences in skin temperature, and temporal stability of skin temperature measures in the Rett syndrome group, and relationships between skin temperature measures and parent-reported and researcher-evaluated indicators of autonomic dysfunction were evaluated. RESULTS: Between-group differences showed lower hand and foot temperatures in the Rett syndrome group. Hand temperature measurements were stable over time and were moderately correlated with parent-reported autonomic symptoms. Foot temperature measurements were more variable than hand temperatures but showed stronger correlations with parent-reported autonomic symptoms. CONCLUSIONS: The results provide preliminary support for the reliability and validity of hand and foot skin temperature measures in Rett syndrome. Additional research is needed to replicate these results and evaluate the temporal stability of these measures over shorter time scales.

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3. Choi YB, Mentch J, Haskins AJ, Van Wicklin C, Robertson CE. Visual processing in genetic conditions linked to autism: A behavioral study of binocular rivalry in individuals with 16p11.2 deletions and age-matched controls. Autism research : official journal of the International Society for Autism Research. 2023.

Close phenotypic characterization of individuals with genetic conditions linked to autism provides a promising approach to navigating the heterogeneity of autism spectrum conditions. The current study investigated sensory processing in individuals with a rare genetic event that is highly penetrant for autism, 16p11.2 deletions, using a well-characterized visual paradigm, binocular rivalry, which is thought to be a non-invasive index of excitatory/inhibitory balance in the visual cortex. We characterized rivalry dynamics in 45 adolescent and adult individuals (19 individuals with 16p11.2 deletions, 26 age-matched neurotypical controls). We found that binocular rivalry perceptual transition rates were significantly slower for individuals with 16p11.2 deletions, relative to controls. Importantly, these results could not be accounted for by differences in motor response latencies or perceptual decision criteria, which were matched between groups. Results should be interpreted with caution given the unmatched psychometric features between groups, such as IQ. Future studies should study visual processing in other genetic groups linked to autism beyond 16p to understand the specificity of these findings. These results highlight the importance of characterizing sensory functions in individuals with genetic alterations associated with autism.

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4. Chouhan T, Black MH, Girdler S, Bölte S, Tan T, Guan C. Altered task induced functional brain networks and small-world properties in autism. Frontiers in psychiatry. 2022; 13: 1039820.

INTRODUCTION: Facial emotion recognition (FER) requires the integration of multi-dimensional information across various brain regions. Autistic individuals commonly experience difficulties in FER, a phenomenon often attributed to differences in brain connectivity. The nature of task-induced functional brain networks could provide insight into the neuromechanisms underlying FER difficulties in autism, however, to date, these mechanisms remain poorly understood. METHODS: In this study, the task induced functional brain networks of 19 autistic and 19 gender, age, and IQ matched non-autistic individuals were examined during a complex FER task. Electroencephalogram (EEG)-based functional brain networks were examined, including the investigation of differences in the time-varying whole-brain functional networks and the exploration of the task induced small-world properties. RESULTS: The results showed statistically significant differences in the task-induced functional networks between autistic and non-autistic adults. Autistic adults compared to non-autistic adults showed a significant shift in the connectivity-based FER processing from the lower to the higher EEG frequency bands. DISCUSSION: These findings may provide evidence at a neural level for the notion that autistic individuals have a preference for bottom-up lower-level processing, or alterations in top-down global processing, potentially contributing to the FER difficulties observed in this population. Results also suggest that functional brain networks in autism show significantly altered task-induced whole-brain small-world properties as compared to non-autistic individuals during complex FER. This study motivates further investigation of the underlying networks-basis of altered emotion processing in autism.

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5. Conner CM, Elias R, Smith IC, White SW. Emotion Regulation and Executive Function: Associations with Depression and Anxiety in Autism. Research in autism spectrum disorders. 2023; 101.

BACKGROUND: Adolescents and young adults with autism spectrum disorder (ASD) are prone to experience co-occurring mental health conditions such as mood or anxiety disorders, as well as impairments in emotion regulation and executive functioning. However, little research has examined inter-relationships among these constructs, despite evidence of additional stressors and increased risk of internalizing disorders at this age, relative to non-autistic individuals. If either emotion regulation or executive functioning are shown to have patterns of association with mental health, this can inform mechanism-based intervention. METHOD: Fifty-seven autistic adolescents and adults (16-25 years) with ASD in a transition intervention completed questionnaires and clinician-administered measures at baseline. Analyses assessed whether executive functioning impairment, above and beyond emotion regulation impairment, were associated with depression and anxiety symptoms. RESULTS: ASD characteristics, emotion regulation, anxiety, and depression were significantly correlated. ASD characteristics was a significant contributor to depression and emotion regulation impairments were significant contributors to anxiety and depression. Findings indicated that inhibition difficulties did not uniquely contribute to depression or anxiety above emotion regulation impairment. Difficulties in cognitive flexibility were associated with depression above and beyond ASD characteristics, IQ, and emotion regulation, but not associated with anxiety. CONCLUSIONS: Although preliminary, findings suggest that inflexibility and regulatory impairment should be considered in depression remediation approaches. Improving ER, on the other hand, may have broader transdiagnostic impact across both mood and anxiety symptoms in ASD.

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6. Eigsti IM, Bennetto L. Grammaticality judgments in autism: Deviance or delay – CORRIGENDUM. Journal of child language. 2023: 1.

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7. Ferreira JM, Bottema-Beutel K. The Interactional Structure of Accounts During Small Group Discussions Among Autistic Children Receiving Special Education Support in Finland. Journal of autism and developmental disorders. 2023.

Through a conversation analytic approach, we investigate the emergence of accounts provided by autistic children in small-group discussions. Nine Finnish children (7-10 years old) attending school with special support participated in a five-month-duration pedagogical practice purposefully designed to enhance children’s participation in groups. We analyzed videos of sharing circles where children discussed their ideas and interests. Our data show three different account structures, which created different modes of children’s participation and gradually changed how they positioned themselves in the group. Results show how accounts can create different focuses of attention; reveal children’s reflections on what is relevant to them, and how to promote the exchange of ideas within a small group. Implications for the development of educational practices are discussed.

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8. Ford TJL, Jeon BT, Lee H, Kim WY. Dendritic spine and synapse pathology in chromatin modifier-associated autism spectrum disorders and intellectual disability. Frontiers in molecular neuroscience. 2022; 15: 1048713.

Formation of dendritic spine and synapse is an essential final step of brain wiring to establish functional communication in the developing brain. Recent findings have displayed altered dendritic spine and synapse morphogenesis, plasticity, and related molecular mechanisms in animal models and post-mortem human brains of autism spectrum disorders (ASD) and intellectual disability (ID). Many genes and proteins are shown to be associated with spines and synapse development, and therefore neurodevelopmental disorders. In this review, however, particular attention will be given to chromatin modifiers such as AT-Rich Interactive Domain 1B (ARID1B), KAT8 regulatory non-specific lethal (NSL) complex subunit 1 (KANSL1), and WD Repeat Domain 5 (WDR5) which are among strong susceptibility factors for ASD and ID. Emerging evidence highlights the critical status of these chromatin remodeling molecules in dendritic spine morphogenesis and synaptic functions. Molecular and cellular insights of ARID1B, KANSL1, and WDR5 will integrate into our current knowledge in understanding and interpreting the pathogenesis of ASD and ID. Modulation of their activities or levels may be an option for potential therapeutic treatment strategies for these neurodevelopmental conditions.

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9. Freeman NC, Grigoriadis A. A survey of assessment practices among health professionals diagnosing females with autism. Research in developmental disabilities. 2023; 135: 104445.

BACKGROUND: Emerging research suggests there may be a distinct female autism phenotype, although females are still diagnosed at a much lower rate than males. To date, no research has examined the assessment practices of health professionals when assessing females for autism. AIMS: This study aimed to identify the training received, level of confidence, and assessment practices specific to assessing females for autism. METHODS AND PROCEDURE: An online survey was completed by 126 health professionals (34 paediatricians, 40 psychologists and 52 speech pathologists) working across Australia. OUTCOMES AND RESULTS: The majority of health professionals received no training that addressed gender differences when assessing for autism, even when controlling for number of years since they completed their studies. Most health professionals reported using similar assessment practices when assessing and diagnosing males and females for autism; only 18.2 % reported using female-specific assessment measures. CONCLUSIONS AND IMPLICATIONS: Suggestions for the lack of difference in assessment measures used across genders are discussed. Potential for including measures that may be more sensitive to the presentation of autism in females in health professional’s assessment practices is identified. The high proportion of health professionals engaging in professional development following their clinical training highlights the importance of training opportunities to enhance practitioner understanding and confidence when undertaking assessments for autism in females.

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10. Goldin RL, Matson JL, Tureck K, Cervantes PE, Jang J. Retraction notice to « A comparison of tantrum behavior profiles in children with ASD, ADHD and comorbid ASD and ADHD » [Research in Developmental Disabilities 34/9 (2013) 2669-2675]. Research in developmental disabilities. 2023; 134: 104451.

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11. Hajikhezri Z, Kaira Y, Schubert E, Darweesh M, Svensson C, Akusjärvi G, Punga T. Fragile X-Related Protein FXR1 Controls Human Adenovirus Capsid mRNA Metabolism. Journal of virology. 2023: e0153922.

Human adenoviruses (HAdVs) are widespread pathogens causing a variety of diseases. A well-controlled expression of virus capsid mRNAs originating from the major late transcription unit (MLTU) is essential for forming the infectious virus progeny. However, regulation of the MLTU mRNA metabolism has mainly remained enigmatic. In this study, we show that the cellular RNA-binding protein FXR1 controls the stability of the HAdV-5 MLTU mRNAs, as depletion of FXR1 resulted in increased steady-state levels of MLTU mRNAs. Surprisingly, the lack of FXR1 reduced viral capsid protein accumulation and formation of the infectious virus progeny, indicating an opposing function of FXR1 in HAdV-5 infection. Further, the long FXR1 isoform interfered with MLTU mRNA translation, suggesting FXR1 isoform-specific functions in virus-infected cells. We also show that the FXR1 protein interacts with N6-methyladenosine (m(6)A)-modified MLTU mRNAs, thereby acting as a novel m(6)A reader protein in HAdV-5 infected cells. Collectively, our study identifies FXR1 as a regulator of MLTU mRNA metabolism in the lytic HAdV-5 life cycle. IMPORTANCE Human adenoviruses (HAdVs) are common pathogens causing various self-limiting diseases, such as the common cold and conjunctivitis. Even though adenoviruses have been studied for more than 6 decades, there are still gaps in understanding how the virus interferes with the host cell to achieve efficient growth. In this study, we identified the cellular RNA-binding protein FXR1 as a factor manipulating the HAdV life cycle. We show that the FXR1 protein specifically interferes with mRNAs encoding essential viral capsid proteins. Since the lack of the FXR1 protein reduces virus growth, we propose that FXR1 can be considered a novel cellular proviral factor needed for efficient HAdV growth. Collectively, our study provides new detailed insights about the HAdV-host interactions, which might be helpful when developing countermeasures against pathogenic adenovirus infections and for improving adenovirus-based therapies.

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12. He X, Zhao X, Sun Y, Geng P, Zhang X. Application of TBSS-based machine learning models in the diagnosis of pediatric autism. Frontiers in neurology. 2022; 13: 1078147.

OBJECTIVE: To explore the microstructural changes of white matter in children with pediatric autism by using diffusion kurtosis imaging (DKI), and evaluate whether the combination of tract-based spatial statistics (TBSS) and back-propagation neural network (BPNN)/support vector machine (SVM)/logistic regression (LR) was feasible for the classification of pediatric autism. METHODS: DKI data were retrospectively collected from 32 children with autism and 27 healthy controls (HCs). Kurtosis fractional anisotropy (FAK), mean kurtosis (MK), axial kurtosis (KA), radial kurtosis (RK), fractional anisotropy (FA), axial diffusivity (DA), mean diffusivity (MD) and Radial diffusivity (DR) were generated by iQuant workstation. TBSS was used to detect the regions of parameters values abnormalities and for the comparison between these two groups. In addition, we also introduced the lateralization indices (LI) to study brain lateralization in children with pediatric autism, using TBSS for additional analysis. The parameters values of the differentiated regions from TBSS were then calculated for each participant and used as the features in SVM/BPNN/LR. All models were trained and tested with leave-one-out cross validation (LOOCV). RESULTS: Compared to the HCs group, the FAK, DA, and KA values of multi-fibers [such as the bilateral superior longitudinal fasciculus (SLF), corticospinal tract (CST) and anterior thalamic radiation (ATR)] were lower in pediatric autism group (p < 0.05, TFCE corrected). And we also found DA lateralization abnormality in Superior longitudinal fasciculus (SLF) (the LI in HCs group was higher than that in pediatric autism group). However, there were no significant differences in FA, MD, MK, DR, and KR values between HCs and pediatric autism group (P > 0.05, TFCE corrected). After performing LOOCV to train and test three model (SVM/BPNN/LR), we found the accuracy of BPNN (accuracy = 86.44%) was higher than that of LR (accuracy = 76.27%), but no different from SVM (RBF, accuracy = 81.36%; linear, accuracy = 84.75%). CONCLUSION: Our proposed method combining TBSS findings with machine learning (LR/SVM/BPNN), was applicable in the classification of pediatric autism with high accuracy. Furthermore, the FAK, DA, and KA values and Lateralization index (LI) value could be used as neuroimaging biomarkers to discriminate the children with pediatric autism or not.

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13. Hibert M. [Oxytocin and its receptor: molecular and therapeutic approaches]. Biologie aujourd’hui. 2022; 216(3-4): 125-30.

It is known since the fifties that oxytocin is a neurohormone synthesized in the brain and released in blood circulation to trigger uterus contraction during delivery. It is also involved in milk ejection during breast-feeding. Over the past 25 years, many other central and peripheral functions have been discovered, in particular for attachment between child and parents as well as between individuals and interaction between a human being and its social group. Over this period, we have studied the functional supramolecular architecture of the hormone bound to its receptor. This information was used to design pharmacological probes and drug candidates. This led to the discovery of the first non-peptide oxytocin receptor full agonist. This molecule, LIT-001, restores social interaction in an animal model of autism and paves the way for a treatment of this neurodevelopmental disorder.

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14. Holmes LG, Anderson K, Sieber GS, Shattuck PT. Sexual and reproductive health services for autistic young people in the United States: A conceptual model of utilization. Perspectives on sexual and reproductive health. 2023.

BACKGROUND: Sexual and reproductive health services promote the ability of people to have safe, satisfying, non-coercive sexual experiences and make informed decisions about pregnancy. Stakeholder input is needed to understand barriers or facilitators to service access for autistic people, who report unmet needs. METHODS: We recruited 18 autistic people, 15 parents, and 15 service providers in the United States to participate in an interview and two surveys. Using their input, we created a conceptual model of sexual and reproductive health service needs, access barriers, and facilitators. RESULTS: Stakeholders rated a variety of sexual and reproductive health services as important for autistic people, including those with intellectual disability or minimal verbal language. Stakeholders identified barriers to sexual and reproductive health service utilization including lack of service availability, lack of service providers with autism or neurodiversity training, lack of accurate information about autism and sexuality, verbal and communication differences that are not accommodated by service providers, and socio-cultural attitudes about sexuality. Stakeholders identified facilitators to service access including person-centered, trauma-informed care, service accommodations such as clear and detailed expectations, and long-enough appointments. We created a conceptual model based on the social ecological model of health to organize these utilization factors and support future research, provider, and policy action. Stakeholders provided feedback and responded favorably on the model’s accuracy, utility for spurring research, practice, and policy improvements, and application to diverse groups of autistic people. CONCLUSIONS: The model shows the many feasible ways to support equitable access to services for autistic people.

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15. Houck P, Naus C, Croen L, Sun LS. Perinatal Anesthesia Exposure and Autism Spectrum Disorders. Journal of neurosurgical anesthesiology. 2023; 35(1): 127-9.

Epidural analgesia is frequently used during labor among pregnant people in the United States. Different factors have been associated with the development of autism spectrum disorder in the epidemiological literature: maternal health, infectious and pharmacological etiologies, social factors, and environmental exposures. Current data indicates no clear association between the use of epidural labor analgesia and the development of autism spectrum disorder in the offspring. This review presents the public health perspective on the postulated association between perinatal anesthesia exposure and autism spectrum disorders.

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16. Hu A, Kozloff V, Owen Van Horne A, Chugani D, Qi Z. Dissociation Between Linguistic and Nonlinguistic Statistical Learning in Children with Autism. Journal of autism and developmental disorders. 2023.

Statistical learning (SL), the ability to detect and extract regularities from inputs, is considered a domain-general building block for typical language development. We compared 55 verbal children with autism (ASD, 6-12 years) and 50 typically-developing children in four SL tasks. The ASD group exhibited reduced learning in the linguistic SL tasks (syllable and letter), but showed intact learning for the nonlinguistic SL tasks (tone and image). In the ASD group, better linguistic SL was associated with higher language skills measured by parental report and sentence recall. Therefore, the atypicality of SL in autism is not domain-general but tied to specific processing constraints related to verbal stimuli. Our findings provide a novel perspective for understanding language heterogeneity in autism.

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17. Ishler KJ, Berg KA, Olgac T, Obeid R, Biegel DE. Barriers to service and unmet need among autistic adolescents and young adults. Autism : the international journal of research and practice. 2023: 13623613221150569.

Prior studies have described the roadblocks, or barriers, to needed services experienced by families with young autistic children, but less research has focused on those faced by autistic adolescents and young adults. In this study, we wished to understand the barriers to service experienced by autistic adolescents and young adults and their families. We surveyed 174 caregivers of autistic youth between 16 to 30 years old. We found that caregivers who felt more caregiving burden had more difficulty accessing services for their youth. Specifically, caregivers who felt more strongly that their daily lives had been disrupted, felt more financial strain, and worried more about their youth well-being experienced more roadblocks to getting services for the youth. Male caregivers also reported fewer difficulties related to service access. Importantly, the older the youth was when they had been diagnosed with autism, the more service barriers their caregivers reported. We did not see any differences in the level of barriers experienced by youth who lived in urban versus suburban settings, or between white and non-white families. However, when youth lived with their caregivers (rather than, for example, in a group home), fewer quality-related barriers to services were reported. Finally, greater access (but not quality) barriers were linked to youth having more unmet service needs. These findings can help to reduce the barriers to service experienced by autistic adolescents and young adults and their families.

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18. Kaya A, Yıldız G. « I think they do not know how to lie: » The perceptions of legal support staff about person with intellectual disabilities/autism in Turkish legal system. Journal of applied research in intellectual disabilities : JARID. 2023.

BACKGROUND: Increased social integration of individuals with intellectual disabilities or autism could may raise their likelihood of interacting with justice system and legal staff. AIMS: The present article aimed to determine the perceptions of the legal support staff about the individuals with intellectual disabilities or autism. MATERIALS AND METHODS: In the study, conducted with the phenomenological method, the views of 15 legal support staff were obtained. The study reported what participants perceived and examined whether participants had an accurate understanding of the experiences/support needs of people with intellectual disabilities/autism. The data were analysed with content analysis. RESULTS: Three themes were determined: (1) Experience of interview with an individual with intellectual disabilities/autism, (2) attitudes of judges, lawyers and other staff, and (3) abuse/trauma. DISCUSSION: Findings are consistent with literature. Individuals with intellectual disabilities/autism have problems in expressing themselves, also staff do not know them, do not know their features. Studies show that staff often do not know what to do in these interviews. CONCLUSION: Based on the participant perspectives, it was determined that individuals with intellectual disabilities/autism experienced self-expression problems, interviewees did not understand children/individuals with intellectual disabilities or autism and could exhibit negative attitudes, the children could be abused and traumatised during judicial processes, they were more prone to abuse when compared to their peers, they could be involved in certain events more frequently and could be pushed to crime.

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19. Lee EAL, Scott M, Black MH, D’Arcy E, Tan T, Sheehy L, Bölte S, Girdler S. « He Sees his Autism as a Strength, Not a Deficit Now »: A Repeated Cross-Sectional Study Investigating the Impact of Strengths-Based Programs on Autistic Adolescents. Journal of autism and developmental disorders. 2023: 1-16.

Recent studies have reported that strengths-based programs, leveraging autistic adolescents’ abilities and interests, could improve their skills and facilitate social engagement. However, little is known about the long-term impact of strengths-based approaches. This study aimed to explore the long-term outcomes of community strengths-based programs designed to support autistic adolescents in developing interests and skills in Science, Technology, Engineering, Arts, and Mathematics (STEAM) and the factors influencing their participation in these programs. A repeated cross-sectional survey study over three years recruited 52 parents in 2018, 52 parents in 2019, and 38 parents in 2020. Results highlighted the positive impact of these programs on autistic adolescents’ health and well-being, social relationships and interactions, self-confidence and self-esteem, sense of belonging, and activities and participation. Five key elements influencing participation included the enthusiasm of the participants, their self-perception, the approach of the programs, the learning environment, and the attitudes of the mentors. This study implies that strengths-based approaches to intervention and support for autistic adolescents in a supported environment are a social model solution that could potentially have positive participant outcomes. Findings from this study could provide a framework underpinning future strengths-based interventions.

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20. Li Q, Perera D, Cao C, He J, Bian J, Chen X, Azeem F, Howe A, Au B, Wu J, Yan J, Long Q. Interaction-integrated linear mixed model reveals 3D-genetic basis underlying Autism. Genomics. 2023: 110575.

Genetic interactions play critical roles in genotype-phenotype associations. We developed a novel interaction-integrated linear mixed model (ILMM) that integrates a priori knowledge into linear mixed models. ILMM enables statistical integration of genetic interactions upfront and overcomes the problems of searching for combinations. To demonstrate its utility, with 3D genomic interactions (assessed by Hi-C experiments) as a priori, we applied ILMM to whole-genome sequencing data for Autism Spectrum Disorders (ASD) and brain transcriptome data, revealing the 3D-genetic basis of ASD and 3D-expression quantitative loci (3D-eQTLs) for brain tissues. Notably, we reported a potential mechanism involving distal regulation between FOXP2 and DNMT3A, conferring the risk of ASD.

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21. Lyall K, Rando J, Toroni B, Ezeh T, Constantino JN, Croen LA, Garvin B, Piselli K, Connell J, Kaat AJ, Newschaffer CJ. Examining shortened versions of the Social Responsiveness Scale for use in autism spectrum disorder prediction and as a quantitative trait measure: Results from a validation study of 3-5 year old children. JCPP advances. 2022; 2(4): e12106.

BACKGROUND: The Social Responsiveness Scale (SRS) is a 65-item measure yielding a continuous score capturing autism-related traits. Scores based on SRS item subsets have been analytically examined but administration of shortened versions has not been evaluated prospectively. OBJECTIVE: The goal of this study was to compare psychometric properties of two shortened versions of the SRS to the full 65-item SRS, in young children from both a clinical and general population setting. METHODS: Study participants (aged 3-5 years) were drawn from the AJ Drexel Autism Institute clinic (n = 154) and Kaiser Permanente Northern California (n = 201) and block randomized to receive either the 16-item short SRS, a newly developed computer adaptive testing-SRS, or the published full-length SRS. Total scores across the three SRS administration methods were scaled to facilitate comparisons. Scores were plotted to assess distributional properties, while Receiver Operating Characteristic analysis was used to estimate Area Under the Curve (AUC) and address predictive ability. RESULTS: Overall, distributional properties of the three administration methods were highly comparable, with shortened measures demonstrating similar ability to capture the range of the distribution and case non-case separation as the full SRS. In addition, AUC values were high (0.91-0.97) and comparable across the administration methods, though there was evidence of difference in predictive ability across measures for females (AUC for full SRS = 0.99 vs. 0.84 for short). Within individual comparisons of short versus full scores (available only for participants at the general population site) suggested underestimation of actual full SRS scores with the CAT-SRS. CONCLUSIONS: Our findings broadly support the construct validity and performance of shortened SRS versions examined here, though the full measure may be needed to more accurately assess traits consistent with ASD diagnosis in females. This work suggests opportunities for collection of ASD-related phenotype in settings where participant burden or feasibility considerations may have otherwise prohibited such measurement.

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22. Möhrle D, Yuen M, Zheng A, Haddad FL, Allman BL, Schmid S. Characterizing maternal isolation-induced ultrasonic vocalizations in a gene-environment interaction rat model for autism. Genes, brain, and behavior. 2023: e12841.

Deficits in social communication and language development belong to the earliest diagnostic criteria of autism spectrum disorders. Of the many risk factors for autism spectrum disorder, the contactin-associated protein-like 2 gene, CNTNAP2, is thought to be important for language development. The present study used a rat model to investigate the potential compounding effects of autism spectrum disorder risk gene mutation and environmental challenges, including breeding conditions or maternal immune activation during pregnancy, on early vocal communication in the offspring. Maternal isolation-induced ultrasonic vocalizations from Cntnap2 wildtype and knockout rats at selected postnatal days were analyzed for their acoustic, temporal and syntax characteristics. Cntnap2 knockout pups from heterozygous breeding showed normal numbers and largely similar temporal structures of ultrasonic vocalizations to wildtype controls, whereas both parameters were affected in homozygously bred knockouts. Homozygous breeding further exacerbated altered pitch and transitioning between call types found in Cntnap2 knockout pups from heterozygous breeding. In contrast, the effect of maternal immune activation on the offspring’s vocal communication was confined to call type syntax, but left ultrasonic vocalization acoustic and temporal organization intact. Our results support the « double-hit hypothesis » of autism spectrum disorder risk gene-environment interactions and emphasize that complex features of vocal communication are a useful tool for identifying early autistic-like features in rodent models.

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23. Mushtaq A, Mir US, Altaf M. Multifaceted functions of RNA binding protein Vigilin in gene silencing, genome stability, and autism related disorders. The Journal of biological chemistry. 2023: 102988.

RNA binding proteins (RBPs) are emerging as important players in regulating eukaryotic gene expression and genome stability. Specific RBPs have been shown to mediate various chromatin-associated processes ranging from transcription to gene silencing and DNA repair. One of the prominent classes of RNA binding proteins is the KH domain-containing proteins. Vigilin, an evolutionarily conserved KH domain-containing RNA binding protein has been shown to be associated with diverse biological processes like RNA transport and metabolism, sterol metabolism, chromosome segregation, and carcinogenesis. We have previously reported that vigilin is essential for heterochromatin-mediated gene silencing in fission yeast. More recently, we have identified that vigilin in humans plays a critical role in efficient repair of DNA double strand breaks and functions in homology-directed DNA repair. In this review, we highlight the multifaceted functions of vigilin and discuss the findings in the context of gene expression, genome organization, cancer, and autism related disorders.

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24. Qiu S, Qiu Y, Li Y, Zhu X, Liu Y, Qiao Y, Cheng Y, Liu Y. Nexus between genome-wide copy number variations and autism spectrum disorder in Northeast Han Chinese population. BMC psychiatry. 2023; 23(1): 96.

BACKGROUND: Autism spectrum disorder (ASD) is a common neurodevelopmental disorder, with an increasing prevalence worldwide. Copy number variation (CNV), as one of genetic factors, is involved in ASD etiology. However, there exist substantial differences in terms of location and frequency of some CNVs in the general Asian population. Whole-genome studies of CNVs in Northeast Han Chinese samples are still lacking, necessitating our ongoing work to investigate the characteristics of CNVs in a Northeast Han Chinese population with clinically diagnosed ASD. METHODS: We performed a genome-wide CNVs screening in Northeast Han Chinese individuals with ASD using array-based comparative genomic hybridization. RESULTS: We found that 22 kinds of CNVs (6 deletions and 16 duplications) were potentially pathogenic. These CNVs were distributed in chromosome 1p36.33, 1p36.31, 1q42.13, 2p23.1-p22.3, 5p15.33, 5p15.33-p15.2, 7p22.3, 7p22.3-p22.2, 7q22.1-q22.2, 10q23.2-q23.31, 10q26.2-q26.3, 11p15.5, 11q25, 12p12.1-p11.23, 14q11.2, 15q13.3, 16p13.3, 16q21, 22q13.31-q13.33, and Xq12-q13.1. Additionally, we found 20 potential pathogenic genes of ASD in our population, including eight protein coding genes (six duplications [DRD4, HRAS, OPHN1, SHANK3, SLC6A3, and TSC2] and two deletions [CHRNA7 and PTEN]) and 12 microRNAs-coding genes (ten duplications [MIR202, MIR210, MIR3178, MIR339, MIR4516, MIR4717, MIR483, MIR675, MIR6821, and MIR940] and two deletions [MIR107 and MIR558]). CONCLUSION: We identified CNVs and genes implicated in ASD risks, conferring perception to further reveal ASD etiology.

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25. Rajaraman A, Austin JL, Gover HC. A practitioner’s guide to emphasizing choice-making opportunities in behavioral services provided to individuals with intellectual and developmental disabilities. International journal of developmental disabilities. 2023; 69(1): 101-10.

Promoting choice is a defining value guiding Positive Behavior Support (PBS) models for serving individuals with intellectual and/or developmental disabilities (IDD). The ability to make independent choices is of paramount importance to self-advocacy and self-determination. Promoting choice is also an essential commitment of trauma-informed care (TIC) in the provision of services to vulnerable individuals, as trauma often involves experiences in which an individual has no control over aversive events that occur, and choice-making opportunities can empower traumatized individuals to regain control over the environments they routinely encounter. However, incorporating meaningful choice making into behavioral programming is often more difficult than it seems. We synthesize the relevant, contemporary literature to provide professionals with actionable suggestions for incorporating choice making into everyday behavioral services. After summarizing the importance of promoting choice into behavioral services based on the values that define both PBS and TIC frameworks, we (a) offer a behavior-analytic interpretation of the skill of making choices, (b) synthesize key literature on how to teach choice making skills, (c) provide recommendations for the situations within one’s care in which choice-making opportunities may be most beneficial, and (d) discuss some of the barriers and potential solutions to incorporating choice-making opportunities for individuals with IDD.

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26. Ross SM, Haegele JA, Anderson K, Healy S. Evidence of item bias in a national flourishing measure for autistic youth. Autism research : official journal of the International Society for Autism Research. 2023.

Flourishing is a positive health indicator that aligns with strengths-based perspectives and measures within autism research. Flourishing indicators were recently included in the National Survey of Children’s Health (NSCH) and have been used to evidence disparities in flourishing experienced by autistic children compared to non-autistic peers. Yet, little has been done to examine the utility of standard flourishing items for this population. This study examined the NSCH caregiver-reported flourishing items for measurement item bias. A cross-sectional, representative sample of autistic and non-autistic US children aged 6-17 years (n = 41,691) was drawn from the 2018-2019 NSCH public dataset. A confirmatory factor analysis using a multiple indicators and multiple causes model (MIMIC-CFA) was conducted to (1) test for differential item functioning (DIF; i.e., measurement bias); and (2) estimate latent mean group differences after controlling for DIF. Findings supported a 3-factor (social competence, school motivation, and behavioral control), 10-item model structure consistent with past literature, yet measurement bias was evident for 6 of the 10 items. Persistent group differences, after accounting for DIF and covariates, indicates that caregivers of autistic children perceive their children are experiencing meaningfully lower flourishing outcomes compared to caregivers of non-autistic children. However, evidence of measurement bias for items related to the social competence dimension calls into question the applicability of this measure for autistic children. Further interpretation of group differences and use of this measure should be approached with caution.

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27. Scheeren AM, Crane L, Heyworth M, Pellicano E. Impact of the COVID-19 Pandemic on Autistic Adults: a Scoping Review. Current developmental disorders reports. 2023: 1-31.

PURPOSE OF REVIEW: The COVID-19 pandemic and its associated restrictions have had a significant impact on people’s everyday lives, including the lives of Autistic adults. We aimed to (a) synthesise all papers currently published on the impact of the COVID-19 pandemic on autistic adults and (b) identify lessons for the care and support of Autistic adults in pandemic and post-pandemic times. RECENT FINDINGS: Fifty-five papers met the inclusion criteria. Most studies focused on the pandemic’s impact on the wellbeing of Autistic adults. Several studies focused on the use of (telehealth) services or the risk of COVID-19 infection/hospitalisation. SUMMARY: Autistic adults were significantly impacted by the pandemic, both directly as indicated by higher COVID-19 infection and hospitalisation rates, but also indirectly due to severe service disruptions and social restrictions. Even though there were large differences observed both between as well as within individuals in terms of the negative/positive effects of the COVID-19 pandemic, most studies reported a negative effect on Autistic adults’ mental health. We draw several lessons from this review for the future care and support of Autistic adults, all of which must be underpinned by participatory research methods, that is, where Autistic community members are actively involved in setting research questions, testing the acceptability of the methods and interpreting and disseminating the results. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s40474-023-00268-6.

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28. Shen Y, Zhong JG, Lan WT, Li YH, Gong JH, Zhao BX, Hou XH. Bibliometric study of neuroinflammation in autism spectrum disorder. Frontiers in psychiatry. 2023; 14: 1086068.

BACKGROUND: Neuroinflammation is closely associated with the occurrence and development of autism spectrum disorder (ASD). This study aims to describe the global development history and current status of neuroinflammation in ASD from 2004 to 2021 and reveal the research hotspots and frontiers to provide a reference for scholars in related fields to carry out further research. METHODS: Journal articles on ASD and neuroinflammation-related research were obtained from the Web of Science Core Collection (WOSCC) database from its inception to 2021. Literature was analyzed visually by VOSviewer, CiteSpace, and R language, including publication analysis, author, institution, national/regional cooperative network analysis, and keyword analysis. We screened the most accumulatively cited 10 experimental papers in the field and the most cited 10 experimental papers in the last 2 years (2020 and 2021) for combing. RESULTS: A total of 620 publications were included in this study, and the number of publications has increased in recent years. The United States (256, 41.29%) was the country with the largest number of publications. King Saud University (40, 6.45%) was the most published institution; Laila Al-Ayadhi Yousef was the most published researcher; the Brain Behavior and Immunity was the main journal for the study of neuroinflammation in autism, having published 22 related articles. Keyword co-occurrence analysis showed that short chain fatty acid, mast cells, and glial cells have been the focus of recent attention. Burst keywords show that gut microbiota and immune system are the future research trends. CONCLUSION: This bibliometric study describes the basic framework for the development in the field of neuroinflammation and ASD through an exploration of key indicators (countries, institutions, journals, authors, and keywords). We found that the key role of neuroinflammation in the development of ASD is attracting more and more researchers’ attention. Future studies can investigate the changes in cytokines and glial cells and their related pathways in ASD neuroinflammation. Immunotherapy to inhibit neuroinflammation may be intensively studied as a direction for ASD treatment or intervention.

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29. Tromans S, Bhui K, Sawhney I, Odiyoor M, Courtenay K, Roy A, Boer H, Alexander R, Biswas A, McCarthy J, Gulati G, Laugharne R, Shankar R. The potential unintended consequences of Mental Health Act reforms in England and Wales on people with intellectual disability and/or autism. The British journal of psychiatry : the journal of mental science. 2023: 1-3.

The draft Mental Health Bill, which amends the Mental Health Act 1983 for England and Wales, proposes protections for people with intellectual disability and/or autism (ID/A) to prevent detention in hospital in the absence of mental illness. This editorial critically appraises the positive impact and unintended consequences of the proposed reforms for people with ID/A.

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30. Turygin N, Matson JL, Tureck K. Retraction notice to « ADHD symptom prevalence and risk factors in a sample of toddlers with ASD or who are at risk for developmental delay » [Research in Developmental Disabilities 34/11 (2013) 4203-4209]. Research in developmental disabilities. 2023; 134: 104448.

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31. Wang C, Yang L, Lin Y, Wang C, Tian P. Alteration of resting-state network dynamics in autism spectrum disorder based on leading eigenvector dynamics analysis. Frontiers in integrative neuroscience. 2022; 16: 922577.

BACKGROUND: Neurobiological models to explain the vulnerability of autism spectrum disorders (ASDs) are scarce, and previous resting-state functional magnetic resonance imaging (rs-fMRI) studies mostly examined static functional connectivity (FC). Given that FC constantly evolves, it is critical to probe FC dynamic differences in ASD patients. METHODS: We characterized recurring phase-locking (PL) states during rest in 45 ASD patients and 47 age- and sex-matched healthy controls (HCs) using Leading Eigenvector Dynamics Analysis (LEiDA) and probed the organization of PL states across different fine grain sizes. RESULTS: Our results identified five different groups of discrete resting-state functional networks, which can be defined as recurrent PL state overtimes. Specifically, ASD patients showed an increased probability of three PL states, consisting of the visual network (VIS), frontoparietal control network (FPN), default mode network (DMN), and ventral attention network (VAN). Correspondingly, ASD patients also showed a decreased probability of two PL states, consisting of the subcortical network (SUB), somatomotor network (SMN), FPN, and VAN. CONCLUSION: Our findings suggested that the temporal reorganization of brain discrete networks was closely linked to sensory to cognitive systems of the brain. Our study provides new insights into the dynamics of brain networks and contributes to a deeper understanding of the neurological mechanisms of ASD.

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32. Wang R, Chaudhari P, Davatzikos C. Bias in machine learning models can be significantly mitigated by careful training: Evidence from neuroimaging studies. Proceedings of the National Academy of Sciences of the United States of America. 2023; 120(6): e2211613120.

Despite the great promise that machine learning has offered in many fields of medicine, it has also raised concerns about potential biases and poor generalization across genders, age distributions, races and ethnicities, hospitals, and data acquisition equipment and protocols. In the current study, and in the context of three brain diseases, we provide evidence which suggests that when properly trained, machine learning models can generalize well across diverse conditions and do not necessarily suffer from bias. Specifically, by using multistudy magnetic resonance imaging consortia for diagnosing Alzheimer’s disease, schizophrenia, and autism spectrum disorder, we find that well-trained models have a high area-under-the-curve (AUC) on subjects across different subgroups pertaining to attributes such as gender, age, racial groups and different clinical studies and are unbiased under multiple fairness metrics such as demographic parity difference, equalized odds difference, equal opportunity difference, etc. We find that models that incorporate multisource data from demographic, clinical, genetic factors, and cognitive scores are also unbiased. These models have a better predictive AUC across subgroups than those trained only with imaging features, but there are also situations when these additional features do not help.

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33. Welsh JP, Munson J, St John T, Meehan CN, Tran Abraham E, Reitz FB, Begay KK, Dager SR, Estes AM. Relationship of Impairments in Associative Learning With Intellectual Disability and Cerebellar Hypoplasia in Autistic Children. Neurology. 2023; 100(6): e639-e50.

BACKGROUND AND OBJECTIVES: The severity of autism spectrum disorder (ASD) varies widely and is associated with intellectual disability (ID) and brain dysmorphology. We tested the hypothesis that the heterogeneity of ASD can be accounted for, in part, by altered associative learning measured by eye-blink conditioning (EBC) paradigms, used to test for forebrain and cerebellar dysfunction across the full range of ASD severity and intellectual ability. METHODS: Children in this cohort study were diagnosed with ASD or typical development (TD); most children were recruited from a 10-year longitudinal study. Outcome measures were the percentage and timing of conditioned eye-blink responses (CRs) acquired to a tone, recorded photometrically and related to measures of ASD severity, IQ, and age 2 brain morphometry by MRI. A sequence of trace and delay EBC was used. Analysis of variance, t test, and logistic regression (LR) were used. RESULTS: Sixty-two children were studied at school age. Nine children with ASD with ID since age 2 (ASD + ID; IQ = 49 ± 6; 11.9 ± 0.2 years old [±SD]) learned more slowly than 30 children with TD (IQ = 120 ± 16; 10.5 ± 1.5 years old [±SD]) during trace EBC and showed atypically early-onset CRs (1.4 SD pre-TD) related to hypoplasia of the cerebellum at age 2 but not of the amygdala, hippocampus, or cerebral cortex. Conversely, 16 children with ASD with robust intellectual development since age 2 (IQ = 100 ± 3; 12.0 ± 0.4 years old [±SD]) learned typically but showed early-onset CRs only during long-delay EBC (0.8 SD pre-TD) unrelated to hypoplasia of any measured brain area. Using 16 EBC measures, binary LR classified ASD and TD with 80% accuracy (95% CI = 72-88%), 81% sensitivity (95% CI = 69-92%), and 79% specificity (95% CI = 68-91%); multinomial LR more accurately classified children based on ID (94% accuracy, 95% CI = 89-100%) than ASD severity (85% accuracy, 95% CI = 77-93%). Separate analyses of 39 children with MRI (2.1 ± 0.3 years old [±SD]) indicated that cerebellar hypoplasia did not predict ASD + ID over ages 2-4 (Cohen d = 0.3) compared with early-onset CRs during age 11 trace EBC (Cohen d = -1.3). DISCUSSION: Trace EBC reveals the relationship between cerebellar hypoplasia and ASD + ID likely by engaging cerebrocerebellar circuits involved in intellectual ability and implicit timing. Follow-up prospective studies using associative learning can determine whether ID can be predicted in children with early ASD diagnoses.

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34. Williams AN. Pausanias as a literary case of autism Spectrum disorder. Journal of travel medicine. 2023.

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35. Wu X, Yang H, Lin H, Suo A, Wu S, Xie W, Zhou N, Guo S, Ding H, Zhou G, Qiu Z, Shi H, Yang J, Zheng Y. Characterizing microRNA editing and mutation sites in Autism Spectrum Disorder. Frontiers in molecular neuroscience. 2022; 15: 1105278.

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder whose pathogenesis is still unclear. MicroRNAs (miRNAs) are a kind of endogenous small non-coding RNAs that play important roles in the post-transcriptional regulation of genes. Recent researches show that miRNAs are edited in multiple ways especially in central nervous systems. A-to-I editing of RNA catalyzed by Adenosine deaminases acting on RNA (ADARs) happens intensively in brain and is also noticed in other organs and tissues. Although miRNAs are widely edited in human brain, miRNA editing in ASD is still largely unexplored. In order to reveal the editing events of miRNAs in ASD, we analyzed 131 miRNA-seq samples from 8 different brain regions of ASD patients and normal controls. We identified 834 editing sites with significant editing levels, of which 70 sites showed significantly different editing levels in the superior frontal gyrus samples of ASD patients (ASD-SFG) when compared with those of control samples. The editing level of an A-to-I editing site in hsa-mir-376a-1 (hsa-mir-376a-1_9_A_g) in ASD-SFG is higher than that of normal controls, and the difference is exaggerated in individuals under 10 years. The increased expression of ADAR1 is consistent with the increased editing level of hsa-mir-376a-1_9_A_g in ASD-SFG samples compared to normal SFG samples. Furthermore, we verify that A-to-I edited hsa-mir-376a-5p directly represses GPR85 and NAPB, which may contribute to the abnormal neuronal development of ASD patients. These results provide new insights into the mechanism of ASD.

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