1. Alfieri P, Scibelli F, Sannino P, Napoli E, Menghini D, Stellino S, Valeri G, Vicari S. « BottegaMente »: An Italian program of internship for people with autism spectrum disorder. Res Dev Disabil. 2024; 155: 104859.

BACKGROUND: Transitioning into adulthood can be challenging for individuals with Autism Spectrum Disorder (ASD). Work is one of the most enduring and impactful aspects of adult life, as it plays a key role in helping people find meaning. However, research on the effectiveness of pre-employment programs in improving the health and well-being of autistic adolescents and young adults remains limited. This exploratory study aims to assess the impact of a nationwide internship program, « BottegaMente », on the adaptive functioning, emotion regulation, and quality of life of autistic teens, adults, and their families. METHOD: The program involved 82 participants, aged 13-36, and required active family involvement to ensure it addressed the needs of autistic individuals from the planning stages through implementation. Quantitative data were collected before (T0) and after the internship (T1). RESULTS: Our study demonstrated that the internship effectively enhanced adaptive skills, particularly in areas like home life and work skills for autistic adolescents and adults, as reflected by standardized outcomes at T1 compared to T0. CONCLUSION: This research is one of the pioneering efforts to evaluate the effectiveness of pre-employment internship programs for autistic adolescents and adults. Although preliminary, these findings could help to shape future studies on employment, an essential factor for overall quality of life and well-being.

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2. Bellinghausen C, Schröder B, Rauh R, Riedel A, Dahmen P, Birkholz P, Tebartz van Elst L, Fangmeier T. Processing of prosodic cues of uncertainty in autistic and non-autistic adults: a study based on articulatory speech synthesis. Front Psychiatry. 2024; 15: 1347913.

INTRODUCTION: We investigated the prosodic perception of uncertainty cues in adults with Autism Spectrum Disorder (ASD) compared to neurotypical adults (NTC). METHOD: We used articulatory synthetic speech to express uncertainty in a human-machine scenario by varying the three acoustic cues pause, intonation, and hesitation. Twenty-eight adults with ASD and 28 NTC adults rated each answer for uncertainty, naturalness, and comprehensibility. RESULTS: Both groups reliably perceived different levels of uncertainty. Stimuli were rated as less uncertain by the ASD group, but not significantly. Only when we pooled the recipients’ ratings for all three cues, did we find a significant group difference. In terms of reaction time, we observed longer reaction times in the ASD group compared to the neurotypical comparison group for the uncertainty level hesitation & strong intonation, but the differences were not significant after Bonferroni correction. Furthermore, our results showed a significant group difference between the correlation of uncertainty and naturalness, i.e. the correlation in the ASD group is significantly lower than in the NTC group. Obtained effect size estimates can inform sample size calculations in future studies for the reliable identification of group differences. DISCUSSION: In future work, we would like to further investigate the interaction of all three cues and uncertainty perception. It would be interesting to further vary the duration of the pause and also to use different types of fillers. From a developmental perspective, uncertainty perception should also be investigated in children and adolescents with ASD.

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3. Burke MM, Li C, Arnold CK. Correlates of Emotional and Tangible Reciprocity in Adult Siblings of Individuals With Autism. Am J Intellect Dev Disabil. 2024; 129(6): 425-45.

Sibling relationships often involve exchanges of emotional and tangible support. When one sibling has a disability, the nature of the reciprocity of such support may differ from sibling pairs wherein no disability is present. Specifically, when an individual has autism, the nature of emotional and tangible reciprocity is unclear given the potential for a supportive or caregiving role of the sibling without autism. In this study, 256 adult siblings of autistic individuals completed a national survey. Analyses included descriptive statistics describing the nature of reciprocity and hierarchical regressions to identify the correlates of emotional and tangible reciprocity. Overall, participants often reported not giving or receiving much tangible support to/from their autistic sibling while they often gave and, to some extent received, emotional support from their autistic sibling. When the autistic sibling had more asocial behaviors, participants were more likely to provide emotional support than receive it. When participants engaged in more caregiving, they both gave and received more emotional and tangible support. Implications for research and practice are discussed.

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4. Cheong PL, Wu YT, Lin CW, Huang FY, Pan YL, Kuo HI, Sun JL, Huang CY. Feasibility of a Home-Based Developmental Behavioral Intervention for Children With Autism Spectrum Disorder in Underserved Taiwanese Families. Pediatr Phys Ther. 2024.

PURPOSE: This study aims to investigate the feasibility of the home-based parent- mediated intervention Naturalistic developmental behavioral intervention (HB-NDBI) in underserved Taiwanese families of children with Autism spectrum disorder (ASD) and explore its effects on children’s developmental skills and parents’ parenting stress. METHOD: 24 underserved Taiwanese families of children with ASD (mean age = 46.5 months) received 12-week HB-NDBI programs. Social Responsiveness Scale, Second Edition (SRS-2), Mullen Scales of Early Learning (MSEL), Child Behavior Checklist (CBCL/1.5-5), and Parenting Stress Index (PSI) were administered before and after the HB-NDBI programs. RESULTS: Following the HB-NDBI programs, significant improvements in social cognition, social communication subscales, receptive language subscale, internalizing, externalizing, and total behavioral problems scales of children, and release of parenting stress were observed. CONCLUSION: This study demonstrated the feasibility of home-based parent-mediated intervention for underserved families in Taiwan. These promising results might facilitate the development of such interventions for underserved families.

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5. Cowen MH, Haskell D, Zoga K, Reddy KC, Chalasani SH, Hart MP. Conserved autism-associated genes tune social feeding behavior in C. elegans. Nat Commun. 2024; 15(1): 9301.

Animal foraging is an essential and evolutionarily conserved behavior that occurs in social and solitary contexts, but the underlying molecular pathways are not well defined. We discover that conserved autism-associated genes (NRXN1(nrx-1), NLGN3(nlg-1), GRIA1,2,3(glr-1), GRIA2(glr-2), and GLRA2,GABRA3(avr-15)) regulate aggregate feeding in C. elegans, a simple social behavior. NRX-1 functions in chemosensory neurons (ADL and ASH) independently of its postsynaptic partner NLG-1 to regulate social feeding. Glutamate from these neurons is also crucial for aggregate feeding, acting independently of NRX-1 and NLG-1. Compared to solitary counterparts, social animals show faster presynaptic release and more presynaptic release sites in ASH neurons, with only the latter requiring nrx-1. Disruption of these distinct signaling components additively converts behavior from social to solitary. Collectively, we find that aggregate feeding is tuned by conserved autism-associated genes through complementary synaptic mechanisms, revealing molecular principles driving social feeding.

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6. Dean M, Nordahl-Hansen A. The to be, or not to be, of acting autistic. Autism. 2024: 13623613241290270.

Autistic characters are becoming more common in film and television, and a growing number of production companies are making efforts to hire autistic actors to play autistic characters. The purpose of this study is to learn about the experiences of professional autistic actors who have played autistic characters in professional media productions. We also explored autistic actors’ impressions of the autistic characters they have seen on screen. We interviewed nine professional autistic actors, who discussed their experiences as professional actors playing autistic characters. Interviews revealed the following themes, including (1) the advantages and disadvantages of disclosing autism, (2) professional networks, and (3) windows and mirrors. Throughout the interviews, the actors discussed instances when they needed to identify as being autistic to take advantage of autism-focused employment opportunities, and other instances when they felt more comfortable not identifying as autistic. Actors’ professional support networks were knowledgeable about autism and advocated for the inclusion and employment of autistic actors. They appreciated the growing number of autistic characters on screen but hoped more production companies invest in authentic casting initiatives. Actors compel production companies to move away from overplayed stereotypical and misleading portrayals. The actors’ recommendations for future autistic characterizations are described.

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7. Ding Y, Zhang H, Qiu T. Deep learning approach to predict autism spectrum disorder: a systematic review and meta-analysis. BMC Psychiatry. 2024; 24(1): 739.

BACKGROUND: The use of the deep learning (DL) approach has been suggested or applied to identify childhood autism spectrum disorder (ASD). The capacity to predict ASD, however, differs across investigations. Our study’s objective was to conduct a meta-analysis to determine the DL for ASD in children’s classification accuracy. METHODS: Eligibility criteria were designed according to the purpose of the meta-analysis; PubMed, EMBASE, Cochrane Library, and Web of Science Database were searched for articles published up to April 16, 2023, on the accuracy of DL methods for ASD classification. Using the Revised Tool for the Quality Assessment of Diagnostic Accuracy Studies (QUADAS-2) to assess the quality of the included studies. Sensitivity, specificity, areas under the curve (AUC), summary receiver operating characteristic (SROC), and corresponding 95% confidence intervals (CIs) were compiled by using the bivariate random-effects models. RESULTS: A total of 11 predictive trials based on DL models were included, involving 9495 ASD patients from 6 different databases. According to bivariate random-effects models’ results, the overall sensitivity, specificity, and AUC of the DL technique for ASD were, 0.95 (95% CI = 0.88-0.98), 0.93 (95% CI = 0.85-0.97), and 0.98 (95%CI: 0.97-0.99), respectively. Subgroup analysis results found that different datasets did not cause heterogeneity (meta-regression P = 0.55). The Kaggle dataset’s sensitivity and specificity were 0.94 (95%CI: 0.82-1.00) and 0.91 (95%CI: 0.76-1.00), and with 0.97 (95%CI: 0.92-1.00) and 0.97 (95%CI: 0.92-1.00) for ABIDE dataset. CONCLUSIONS: DL techniques has satisfactory sensitivity, specificity, and AUC in ASD classification. However, the major heterogeneity of the included studies limited the effectiveness of this meta-analysis. Further trials need to be performed to demonstrate the clinical practicability of DL diagnosis.

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8. Drehmer I, Santos-Terra J, Gottfried C, Deckmann I. mTOR signaling pathway as a pathophysiologic mechanism in preclinical models of autism spectrum disorder. Neuroscience. 2024.

Autism spectrum disorder (ASD) is a highly prevalent multifactorial disorder characterized by social deficits and stereotypies. Despite extensive research efforts, the etiology of ASD remains poorly understood. However, studies using preclinical models have identified the mechanistic target of rapamycin kinase (mTOR) signaling pathway as a key player in ASD-related features. This review examines genetic and environmental models of ASD, focusing on their association with the mTOR pathway. We organize findings on alterations within this pathway, providing insights about the potential mechanisms involved in the onset and maintenance of ASD symptoms. Our analysis highlights the central role of mTOR hyperactivation in disrupting autophagic processes, neural organization, and neurotransmitter pathways, which collectively contribute to ASD phenotypes. The review also discusses the therapeutic potential of mTOR pathway inhibitors, such as rapamycin, in mitigating ASD characteristics. These insights underscore the importance of the mTOR pathway as a target for future research and therapeutic intervention in ASD. This review innovates by bringing the convergence of disrupted mTOR signaling in preclinical models and clinical data associated with ASD.

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9. Durham HS, Bowman KL, Harrison AJ. Examining Sociodemographic Variability in the Amount and Type of Interventions for Children With Autism. Am J Intellect Dev Disabil. 2024; 129(6): 490-500.

Various intervention usage is associated with positive outcomes for children with autism. However, the intensity of these interventions tends to be below recommendations, especially for minoritized children. This study aimed to examine how average weekly intervention hours among children vary by sociodemographic factors. Regression analyses were conducted using data from 2,857 participants with autism included in the Simons Simplex Collection. Findings indicated the amount and type of intervention received varied by race, ethnicity, family income, and maternal education. This study marks an important step in documenting the extent of sociodemographic intervention disparities; and, helps to elucidate which therapy types are most readily underused and by which groups to help inform approaches to increase more equitable access.

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10. Eisfeldt J, Higginbotham EJ, Lenner F, Howe J, Fernandez BA, Lindstrand A, Scherer SW, Feuk L. Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing. Genome Res. 2024.

Rare or de novo structural variation, primarily in the form of copy number variants, is detected in 5%-10% of autism spectrum disorder (ASD) families. While complex structural variants involving duplications can generally be detected using microarray or short-read genome sequencing (GS), these methods frequently fail to characterize breakpoints at nucleotide resolution, requiring additional molecular methods for validation and fine-mapping. Here, we use Oxford Nanopore Technologies PromethION long-read GS to characterize complex genomic rearrangements (CGRs) involving large duplications that segregate with ASD in five families. In total, we investigated 13 CGR carriers and were able to resolve all breakpoint junctions at nucleotide resolution. While all breakpoints were identified, the precise genomic architecture of one rearrangement remained unresolved with three different potential structures. The findings in two families include potential fusion genes formed through duplication rearrangements, involving IL1RAPL1-DMD and SUPT16H-CHD8 In two of the families originating from the same geographical region, an identical rearrangement involving ANK2 was identified, which likely represents a founder variant. In addition, we analyze methylation status directly from the long-read data, allowing us to assess the activity of rearranged genes and regulatory regions. Investigation of methylation across the CGRs reveals aberrant methylation status in carriers across a rearrangement affecting the CREBBP locus. In aggregate, our results demonstrate the utility of nanopore sequencing to pinpoint CGRs associated with ASD in five unrelated families, and highlight the importance of a gene-centric description of disease-associated complex chromosomal rearrangements.

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11. Gay SM, Chartampila E, Lord JS, Grizzard S, Maisashvili T, Ye M, Barker NK, Mordant AL, Mills CA, Herring LE, Diering GH. Developing forebrain synapses are uniquely vulnerable to sleep loss. Proc Natl Acad Sci U S A. 2024; 121(44): e2407533121.

Sleep is an essential behavior that supports lifelong brain health and cognition. Neuronal synapses are a major target for restorative sleep function and a locus of dysfunction in response to sleep deprivation (SD). Synapse density is highly dynamic during development, becoming stabilized with maturation to adulthood, suggesting sleep exerts distinct synaptic functions between development and adulthood. Importantly, problems with sleep are common in neurodevelopmental disorders including autism spectrum disorder (ASD). Moreover, early life sleep disruption in animal models causes long-lasting changes in adult behavior. Divergent plasticity engaged during sleep necessarily implies that developing and adult synapses will show differential vulnerability to SD. To investigate distinct sleep functions and mechanisms of vulnerability to SD across development, we systematically examined the behavioral and molecular responses to acute SD between juvenile (P21 to P28), adolescent (P42 to P49), and adult (P70 to P100) mice of both sexes. Compared to adults, juveniles lack robust adaptations to SD, precipitating cognitive deficits in the novel object recognition task. Subcellular fractionation, combined with proteome and phosphoproteome analysis revealed the developing synapse is profoundly vulnerable to SD, whereas adults exhibit comparative resilience. SD in juveniles, and not older mice, aberrantly drives induction of synapse potentiation, synaptogenesis, and expression of perineuronal nets. Our analysis further reveals the developing synapse as a putative node of convergence between vulnerability to SD and ASD genetic risk. Together, our systematic analysis supports a distinct developmental function of sleep and reveals how sleep disruption impacts key aspects of brain development, providing insights for ASD susceptibility.

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12. Holyfield C, Zimmerman TO, MacNeil S, Caldwell NS, Patel P, Griffen B, Lorah E, Dragut E, Vucetic S. Preliminary Investigation of Context-Aware AAC with Automated Just-in-Time Cloze Phrase Response Options for Social Participation from Children on the Autism Spectrum. Folia Phoniatr Logop. 2024: 1-21.

INTRODUCTION: Social participation for emerging symbolic communicators on the autism spectrum is often restricted. This is due in part to the time and effort required for both children and partners to use traditional augmentative and alternative communication (AAC) technologies during fast-paced social routines. Innovations in artificial intelligence provide the potential for context-aware AAC technology that can provide just-in-time (JIT) communication options based on linguistic input from partners to minimize the time and effort needed to use AAC technologies for social participation. METHODS: This preliminary study used an alternating treatment design to compare the effects of a context-aware AAC prototype with automated cloze phrase response options to traditional AAC for supporting three young children who were emerging symbolic communicators on the autism spectrum in participating within a social routine. RESULTS: Visual analysis and effect size estimates suggest the context-aware AAC condition resulted in increases in linguistic participation, vocal approximations, and visual attention for all three children. CONCLUSION: While this study was only an initial exploration and results are preliminary, context-aware AAC technologies have the potential to enhance participation and communication outcomes for young emerging symbolic communicators on the autism spectrum and more research is needed.

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13. Huang MX, Yu Q, Li YY. [A prospective randomized controlled study of neurofeedback combined with learning style profile intervention training in children with high-functioning autism]. Zhongguo Dang Dai Er Ke Za Zhi. 2024; 26(10): 1066-71.

OBJECTIVES: To explore the application of neurofeedback (NFB) combined with learning style profile (LSP) intervention training in children with high-functioning autism (HFA). METHODS: A prospective study was conducted to select 86 children with HFA admitted to the hospital from February 2022 to February 2024. They were divided into two groups according to the random number table method, with 43 cases in each group. In this double-blind study, the control group was given LSP intervention training, and the observation group was given NFB intervention on the basis of the treatment used in the control group. Both groups were treated for 6 months. The scores of Autism Behavior Checklist (ABC), Autism Treatment Evaluation Checklist (ATEC), Social Responsiveness Scale (SRS), and Pediatric Quality of Life (PedsQL) were compared between the two groups before intervention and at 6 months after intervention. The relationship of PedsQL score with ABC, ATEC, and SRS scores was analyzed in children with HFA. RESULTS: After 6 months of intervention, the scores of ABC, ATEC, and SRS in the observation group were significantly lower than those in the control group, while the PedsQL score in the observation group was significantly higher than that in the control group (P<0.05). The PedsQL score was negatively correlated with the ABC, ATEC, and SRS scores in children with HFA (r=-0.238, -0.381, -0.219 respectively; P<0.001). CONCLUSIONS: NFB combined with LSP can effectively improve the clinical symptoms and social ability, control the development of the disease, and improve the quality of life in children with HFA.

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14. Kim Y, Fisher ZF, Pipiras V. Group Integrative Dynamic Factor Models With Application to Multiple Subject Brain Connectivity. Biom J. 2024; 66(8): e202300370.

This work introduces a novel framework for dynamic factor model-based group-level analysis of multiple subjects time-series data, called GRoup Integrative DYnamic factor (GRIDY) models. The framework identifies and characterizes intersubject similarities and differences between two predetermined groups by considering a combination of group spatial information and individual temporal dynamics. Furthermore, it enables the identification of intrasubject similarities and differences over time by employing different model configurations for each subject. Methodologically, the framework combines a novel principal angle-based rank selection algorithm and a noniterative integrative analysis framework. Inspired by simultaneous component analysis, this approach also reconstructs identifiable latent factor series with flexible covariance structures. The performance of the GRIDY models is evaluated through simulations conducted under various scenarios. An application is also presented to compare resting-state functional MRI data collected from multiple subjects in autism spectrum disorder and control groups.

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15. Kitanishi N, Bordini D, Ribeiro MVV, Paula CS, Brentani H, Portelese J, Surkan PJ, Martins SS, Jesus Mari J, Martins Okuda PM, Caetano SC. Validating the Child Behavior Checklist 1.5-5 as a screening tool for autism spectrum disorder. Autism. 2024: 13623613241293088.

Early identification of Autism Spectrum Disorder is very important, especially in low and middle-income countries, where access to resources is often limited. The Child Behavior Checklist 1.5-5 is a tool that has been used to help identify children with autism spectrum disorder through specific behavior patterns. However, its effectiveness in low- and middle-income country settings has not been thoroughly studied. This research focused on evaluating the Child Behavior Checklist 1.5-5 as a screening tool for autism spectrum disorder among Brazilian children. The study involved 1292 children aged 3-5 years from the general population and 70 children with autism spectrum disorder aged 1-5 years. Using advanced statistical methods, the study tested how well the Child Behavior Checklist identified children with autism spectrum disorder and how reliable it was in this context. The findings showed that the Child Behavior Checklist 1.5-5 performed well in identifying autism spectrum disorder, with high reliability and consistency in the results. Although one item in each of the autism spectrum problems and withdrawn syndrome subscales did not perform as strongly, the overall tool was effective. In summary, the Child Behavior Checklist 1.5-5 proves to be a reliable and valid tool for early autism spectrum disorder screening in Brazilian children. This can help ensure that more children in low- and middle-income country settings are identified early and receive the necessary support and interventions to help them thrive. Future research should continue to test this tool in different contexts to confirm its usefulness across various populations.

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16. Lunsky IO, Gutierrez G, Rabu O, Gemmill M, Hamer D. Providing Care to People With Intellectual and Developmental Disabilities in Medical Education. Am J Intellect Dev Disabil. 2024; 129(6): 476-89.

Medical professionals commonly report having inadequate training providing care for individuals with intellectual and developmental disabilities (IDD). This pilot study aimed to address this gap through a virtual Objective Structured Clinical Examinations (OSCE) with individuals with IDD as patient educators for 25 first- and second-year medical students (OSCE participants). Quantitative data through the Prediger competency scale and qualitative data through a semistructured interview were analyzed. OSCE participants reported a significant increase (p < 0.05) in self-perceived competency scores when comparing pre- and post-OSCE scores. Qualitative analysis yielded themes corresponding to improving skills, practice considerations, and perspectives and biases changes. These results suggested that this virtual OSCE promoted the development of self-perceived clinical competency and comfort providing care for individuals with IDD.

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17. Mansour H, Gillions A, Brown J, Pattenden A, Hartley S, Patel S, James S, Styles M, Mandy W, Stott J, O’Nions E. ‘It’s designed for someone who is not me’: A reflexive thematic analysis of the unmet healthcare support needs in UK autistic adults aged 65 years and over. Autism. 2024: 13623613241291081.

Autistic people often face both physical and mental health challenges throughout their lives, which can lead to a higher risk of premature death due to health inequalities. However, we know very little about the healthcare experiences of autistic older adults. In this study, we talked with 19 autistic adults aged 65 years or above living in the United Kingdom. We found these main themes: (1) A lifetime of being misunderstood; (2) Autistic people falling between the gaps; (3) Processing autism diagnosis in later life; (4) Concerns about service pressures and scarce resources; (5) Lack of continuity of care, empathy and understanding; (6) Anxiety, alexithymia and sensory overload; and (7) Reduced social support and concerns for the future. Themes show that autistic older adults face unique healthcare access challenges because services don’t consider their lifelong experiences of social exclusion. Participants also worried about age-related decline coupled with reduced social support, which makes it harder for them to get support. To address these challenges, healthcare services should provide more targeted support, make policies and funding consistent, and improve healthcare provision by providing staff training. Importantly, they must also speak with autistic older adults so they can advocate for their current and future care.

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18. Medina E, Rempe MJ, Muheim C, Schoch H, Singletary K, Ford K, Peixoto L. Sex differences in sleep deficits in mice with an autism-linked Shank3 mutation. Biol Sex Differ. 2024; 15(1): 85.

BACKGROUND: Insomnia is more prevalent in individuals with Autism Spectrum Disorder (ASD), can worsen core-symptoms and reduces quality of life of both individuals and caregivers. Although ASD is four times more prevalent in males than females, less is known about sex specific sleep differences in autistic individuals. Recent ASD studies suggest that sleep problems may be more severe in females, which aligns with the sex bias seen in insomnia for the general population. We have previously shown that male mice with a mutation in the high confidence ASD gene Shank3, Shank3(∆C), recapitulate most aspects of the ASD insomnia phenotype. The objective of the present study was to leverage the Shank3(∆C) model to investigate sex-specific effects in sleep using polysomnography. METHODS: Adult male and female Shank3(∆C) and wildtype (WT) littermates were first recorded for 24 h of baseline recordings. Subsequently, they were sleep deprived (SD) for five hours via gentle handling and allowed 19 h of recovery sleep to characterize the homeostatic response to SD. Vigilance states (rapid eye movement (REM) sleep, non-rapid eye movement (NREM) sleep and wake) were assigned by manual inspection using SleepSign. Data processing, statistical analysis and visualization were conducted using MATLAB. RESULTS: Sex and genotype effects were found during baseline sleep and after SD. At baseline, male Shank3(∆C) mice sleep less during the dark period (active phase) while female Shank3(∆C) mice sleep less during the light period (rest phase) and sleep more during the dark period. Both male and female Shank3(∆C) mice show reduced spectral power in NREM sleep. We detect a significant effect of sex and genotype in sleep onset latency and homeostatic sleep pressure (sleepiness). In addition, while male Shank3(∆C) mice fail to increase sleep time following SD as seen in WT, female Shank3(∆C) mice decrease sleep time. CONCLUSIONS: Overall, our study demonstrates sex differences in sleep architecture and homeostatic response to SD in adult Shank3(∆C) mice. Thus, our study demonstrates an interaction between sex and genotype in Shank3(∆C) mice and supports the use of the Shank3(∆C) model to better understand mechanisms contributing to the sex differences in insomnia in ASD in clinical populations. Sleep problems are common in people with Autism Spectrum Disorder (ASD) and can make their condition worse, impacting both their lives and those of their caregivers. Historically ASD has been diagnosed more often in males and much less is known about the female phenotype. However, recent studies suggest that sleep problems may be more severe in autistic females. We previously shown that the ASD mouse model, Shank3(∆C), display an autism like sleep phenotype. Using this model, we examine sex specific deficits in sleep. We investigated canonical measures of sleep during undisturbed conditions (sleep architecture) and after sleep deprivation (sleep homeostasis).Our findings revealed that male Shank3(∆C) mice slept less during their active period while female Shank3(∆C) mice slept less during their rest period and more during their active period. In addition, both male and female Shank3(∆C) mice displayed lower sleep quality. After sleep deprivation, both male and female Shank3(∆C) mice took longer to fall asleep despite accumulation of sleep pressure, however, differences in sleep time after sleep deprivation differed based on sex. In healthy controls, sleep time increases after sleep deprivation. Male Shank3(∆C) mice showed no such increase in sleep time, while female Shank3(∆C) mice slept even less. Our results suggest sex specific differences in two hallmark measures of sleep, architecture and sleep homeostasis in this ASD model. These results highlight the importance of awareness of sex specific differences when studying sleep in ASD as well as eventual treatment or interventions. eng.

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19. Moon E, Snyder SD, Williams A, Allen S, Simmons E. Medication Management in Adults With Intellectual and Developmental Disabilities: Psychiatric Pharmacists in Primary Care. Am J Intellect Dev Disabil. 2024; 129(6): 446-52.

This study describes the role of psychiatric pharmacists (PPs) in medication management at a county-hospital-based primary care clinic serving adults with intellectual and developmental disabilities (IDD). During a 20-week period, PPs provided 308 interventions for 97 patients with IDD, 55% of whom had a concomitant psychiatric/behavioral disorder and 70% of whom were taking at least one psychotropic medication. PP services included medication reviews (48%), medication histories (13%), collaborative care (12%), pharmacotherapy interventions (11%), advisory services (9%), and patient/caregiver education (7%). Psychotropics were involved in 66% of interventions. Our results demonstrate that PPs may address psychotropic-related challenges in this practice setting by performing a variety of services. Additional studies are needed to fully evaluate the impact of this integrative model.

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20. Persechino ST, Morin D, Bardon C. An Exploratory Study on the Suicidal Behaviours of People With Intellectual Disability or Autism: Examining Their Understanding of Suicide and Death, and the Perceptions of Their Direct Support Staff. J Appl Res Intellect Disabil. 2025; 38(1): e13318.

BACKGROUND: Individuals with intellectual disability or autism exhibit suicidal behaviours at an equal or greater rate than the general population, yet little is known about associated risk factors. This study explores suicidality in these populations, focusing on their understanding of suicide and death and perceptions of their direct support staff regarding their suicidality. METHOD: Semi-structured interviews from 23 suicidal and non-suicidal participants and their support staff were analysed qualitatively to extract common themes and compare between groups. RESULTS: A breadth of suicidal behaviours was documented. Generally, suicidal participants demonstrated a more elaborate understanding of suicide and death than non-suicidal participants. While staff often acknowledged never having discussed the topic with their client, most assumed they understood death accurately. CONCLUSION: Results suggest interactions between conceptions of death and suicidal behaviour and a need for discussion around death and suicide in clinical settings. Implications for future research and clinical practice are discussed.

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21. Ragaglia B, Trovato I, Bulgarelli D. Peer-Mediated Social Skills Interventions in Primary School Settings for Autistic Children in the Light of the ICF Bio-psycho-social Model. A Systematic Review. J Autism Dev Disord. 2024.

This systematic review expands the current knowledge about Peer-Mediated Interventions (PMIs) for children with Autism Spectrum Disorder, focusing exclusively on primary school age (6-12 years). The study has three aims: (1) describing the main features of the PMI programs; (2) discussing the PMIs efficacy on autistic children’s social skills; (3) analyzing whether the PMIs were coherent with the bio-psycho-social model promoted by the International Classification of Functioning, Disability and Health (ICF) classification system, by referring to the person-environment interaction and to the concepts of body functions and structures, environmental factors, and activity and participation. The systematic review followed the PRISMA-P method. The literature search was conducted in August 2024 through PsycInfo, PsycArticles, Education Source, and PubMed databases. A total of 558 articles were generated; 1 study was later added. Twenty-four articles were finally included. Most of the studies used a multiple baseline design across subjects and proved to be effective. Yet, only 5 studies included a follow-up assessment, which showed contrasting results. PMIs partly fit the ICF bio-psycho-social vision, even if they were not designed for this purpose. Our analysis arises from the belief that systematically including the perspective of individual-environment interaction could better guarantee the intervention efficacy.

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22. Ren Y, Liu R, Sang H, Yu X. Avatar-Based Picture Exchange Communication System Enhancing Joint Attention Training for Children With Autism. IEEE J Biomed Health Inform. 2024; Pp.

Children with Autism Spectrum Disorder (ASD) often struggle with social communication and feel anxious in interactive situations. The Picture Exchange Communication System (PECS) is commonly used to enhance basic communication skills in children with ASD, but it falls short in reducing social anxiety during therapist interactions and in keeping children engaged. This paper proposes the use of virtual character technology alongside PECS training to address these issues. By integrating a virtual avatar, children’s communication skills and ability to express needs can be gradually improved. This approach also reduces anxiety and enhances the interactivity and attractiveness of the training. After conducting a T-test, it was found that PECS assisted by a virtual avatar significantly improves children’s focus on activities and enhances their behavioral responsiveness. To address the problem of poor accuracy of gaze estimation in unconstrained environments, this study further developed a visual feature-based gaze estimation algorithm, the three-channel gaze network (TCG-Net). It utilizes binocular images to refine the gaze direction and infer the primary focus from facial images. Our focus was on enhancing gaze tracking accuracy in natural environments, crucial for evaluating and improving Joint Attention (JA) in children during interactive processes.TCG-Net achieved an angular error of 4.0 on the MPIIGaze dataset, 5.0 on the EyeDiap dataset, and 6.8 on the RT-Gene dataset, confirming the effectiveness of our approach in improving gaze accuracy and the quality of social interactions.

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23. Santos Bandeira LV, Dias Alves F, Mendes Cezar IA, Nunes Oliveira SL, Soares Oliveira AJ, da Silva VB, Silveira Nunes M, de Rezende LF, Fagundes Silveira M. Autism Spectrum Disorder Association with Socioeconomic and Demographic Factors: A Case-Control Study. Port J Public Health. 2024; 42(1): 15-22.

INTRODUCTION: Autism spectrum disorder (ASD) is an early-onset neurodevelopmental disorder whose prevalence is constantly increasing. OBJECTIVE: The aim of the study was to investigate the association between ASD and socioeconomic and demographic factors of parents of children/adolescents in Northern Minas Gerais, Brazil. METHODS: A case-control study was carried out, consisting of 1,134 children/adolescents, 248 with ASD and 886 without ASD. A semi-structured questionnaire was used and multiple logistic regression was performed. RESULTS: Children/adolescents with ASD are more likely to be male (OR: 3.91; 95% CI: 2.67-5.68), children of mothers aged ≥25 years (OR: 2.15; 95% CI: 1.50-3.09), who worked outside the home during pregnancy (OR: 1.52; 95% CI: 1.04-2.24) and that, at the time of the interview, they were not inserted in the labor market (OR: 3.17; 95% CI: 2.44-5.65), white (OR: 1.49; 95% CI: 1.01-2.22), and who performed prenatal care in private institutions (OR: 1.97; 95% CI: 1.38-2.80). CONCLUSION: The socioeconomic and demographic factors associated with ASD are important for the diagnosis and, consequently, for the increase in the number of reported cases. Thus, public policies are needed to allow equal access to the diagnosis and treatment of this disorder.

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24. Soares RCS, Cândido FG, Filgueiras MS, Rosa COB, de Novaes JF, Araujo RMA. Problematic behaviors at mealtimes and the nutritional status of Brazilian children with Autism Spectrum Disorder. Front Public Health. 2024; 12: 1392478.

OBJECTIVE: The aim of this study was to explore problematic behaviors and their association with the food consumption and nutritional status of children with Autism Spectrum Disorder (ASD). METHODS: This is a cross-sectional study which enrolled 90 Brazilian children (aged 2-10 years) with ASD. A sociodemographic questionnaire, the ASD Eating Behavior Assessment Scale, and the 24-h recall were used. Age, height, total body weight, and Body Mass Index (BMI) were accessed to estimate nutritional status (BMI/Age). Consumption of fruits, vegetables, total calories, macro and micronutrients (calcium, iron, zinc, omega 3 and omega 6), and Body Mass Index (BMI) were assessed. The regression models were adjusted for covariates (prevalence ratio – PR, α =  0.05). RESULTS: All studied children presented problematic behaviors at mealtimes, with a predominance of food selectivity (57.8%), followed by changes in mealtime skills (34.4%), changes in masticatory motor skills (25.6%), oppositional eating behaviors (20.4%), and rigid eating behaviors (20.0%). Food selectivity was associated with excess body weight (PR: 1.94; 95% CI: 1.08-3.51) and absence of vegetable consumption (PR: 0.61; 95% CI: 0.46-0.81). Rigid eating behaviors was associated with low consumption of fiber (PR: 1.42; 95% CI: 1.15-1.75) and zinc (PR: 2.15; 95% CI: 1.33-3.45), and with excessive caloric (PR: 1.14; 95% CI: 1.02-1.29) and lower calcium intake (PR: 0.52; 95% CI: 0.29-0.91). CONCLUSION: Selectivity and rigidity behaviors have different relationships with food consumption and are associated with a higher prevalence of inadequacies, which may lead to nutritional risks for children. Further studies may investigate the influence of problematic behaviors and excess body weight in ASD.

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25. Tan S, Zhang Q, Zhan R, Luo S, Han Y, Yu B, Muss C, Pingault V, Marlin S, Delahaye A, Peters S, Perne C, Kreiß M, Spataro N, Trujillo-Quintero JP, Racine C, Tran-Mau-Them F, Phornphutkul C, Besterman AD, Martinez J, Wang X, Tian X, Srivastava S, Urion DK, Madden JA, Saif HA, Morrow MM, Begtrup A, Li X, Jurgensmeyer S, Leahy P, Zhou S, Li F, Hu Z, Tan J, Xia K, Guo H. Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay. Mol Psychiatry. 2024.

De novo variants adjacent to the canonical splicing sites or in the well-defined splicing-related regions are more likely to impair splicing but remain under-investigated in autism spectrum disorder (ASD). By analyzing large, recent ASD genome sequencing cohorts, we find a significant burden of de novo potential splicing-disrupting variants (PSDVs) in 5048 probands compared to 4090 unaffected siblings. We identified 55 genes with recurrent de novo PSDVs that were highly intolerant to variation. Forty-six of these genes have not been strongly implicated in ASD or other neurodevelopmental disorders previously, including GSK3B. Through international, multicenter collaborations, we assembled genotype and phenotype data for 15 individuals with GSK3B variants and identified common phenotypes including developmental delay, ASD, sleeping disturbance, and aggressive behavior. Using available single-cell transcriptomic data, we show that GSK3B is enriched in dorsal progenitors and intermediate forms of excitatory neurons in the developing brain. We showed that Gsk3b knockdown in mouse excitatory neurons interferes with dendrite arborization and spine maturation which could not be rescued by de novo missense variants identified from affected individuals. In summary, our findings suggest that PSDVs may play an important role in the genetic etiology of ASD and allow for the prioritization of new ASD candidate genes. Importantly, we show that genetic variation resulting in GSK3B loss-of-function can lead to a neurodevelopmental disorder with core features of ASD and developmental delay.

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26. Tang X, Ran X, Liang Z, Zhuang H, Yan X, Feng C, Qureshi A, Gao Y, Shen L. Screening biomarkers for autism spectrum disorder using plasma proteomics combined with machine learning methods. Clin Chim Acta. 2024: 120018.

BACKGROUND AND AIMS: Autism spectrum disorder (ASD) is a common neurodevelopmental disorder in children. Early intervention is effective. Investigation of novel blood biomarkers of ASD facilitates early detection and intervention. MATERIALS AND METHODS: Sequential window acquisition of all theoretical spectra-mass spectrometry (SWATH-MS)-based proteomics technology and 30 DSM-V-defined ASD cases versus age- and sex-matched controls were initially evaluated, and candidate biomarkers were screened using machine learning methods. Candidate biomarkers were validated by targeted proteomics multiple reaction monitoring (MRM) analysis using an independent group of 30 ASD cases vs. controls. RESULTS: Fifty-one differentially expressed proteins (DEPs) were identified by SWATH analysis. They were associated with the immune response, complements and coagulation cascade pathways, and apolipoprotein-related metabolic pathways. Machine learning analysis screened 10 proteins as biomarker combinations (TFRC, PPBP, APCS, ALDH1A1, CD5L, SPARC, FGG, SHBG, S100A9, and PF4V1). In the MRM analysis, four proteins (PPBP, APCS, FGG, and PF4V1) were significantly different between the groups, and their combination as a screening indicator showed high potential (AUC = 0.8087, 95 % confidence interval 0.6904-0.9252, p < 0.0001). CONCLUSIONS: Our study provides data that suggests that a few plasma proteins have potential use in screening for ASD.

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27. Wan Y, Wong OWH, Tun HM, Su Q, Xu Z, Tang W, Ma SL, Chan S, Chan FKL, Ng SC. Fecal microbial marker panel for aiding diagnosis of autism spectrum disorders. Gut Microbes. 2024; 16(1): 2418984.

Accumulating evidence suggests that gut microbiota alterations influence brain function and could serve as diagnostic biomarkers and therapeutic targets. The potential of using fecal microbiota signatures to aid autism spectrum disorder (ASD) detection is still not fully explored. Here, we assessed the potential of different levels of microbial markers (taxonomy and genome) in distinguishing children with ASD from age and gender-matched typically developing peers (n = 598, ASD vs TD = 273 vs 325). A combined microbial taxa and metagenome-assembled genome (MAG) markers showed a better performance than either microbial taxa or microbial MAGs alone for detecting ASD. A machine-learning model comprising 5 bacterial taxa and 44 microbial MAG markers (2 viral MAGs and 42 bacterial MAGs) achieved an area under the receiving operator curve (AUROC) of 0.886 in the discovery cohort and 0.734 in an independent validation cohort. Furthermore, the identified biomarkers and predicted ASD risk score also significantly correlated with the core symptoms measured by the Social Responsiveness Scale-2 (SRS-2). The microbiome panel showed a superior classification performance in younger children (≤6 years old) with an AUROC of 0.845 than older children (>6 years). The model was broadly applicable to subjects across genders, with or without gastrointestinal tract symptoms (constipation and diarrhea) and with or without psychiatric comorbidities (attention deficit and hyperactivity disorder and anxiety). This study highlights the potential clinical validity of fecal microbiome to aid in ASD diagnosis and will facilitate studies to understand the association of disturbance of human gut microbiota and ASD symptom severity.

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28. Zhao Y, Lu F, Ding R, Zhu D, Zhang R, Sun S, He P, Zheng X. Prevalence, incidence, and characteristics of autism spectrum disorder among children in Beijing, China. Autism. 2024: 13623613241290388.

It is the first study to explore the prevalence, incidence, and co-occurring conditions of autism spectrum disorder for the preschoolers in China. The prevalence and incidence of autism spectrum disorder has increased in recent decades. Autism spectrum disorder has become an important public concern worldwide. In this study, all hospital confirmed cases had an associated diagnosis (International Classification of Diseases, 10th revision (ICD-10) codes: F84.0, 84.5, F84.9). In total, 4457 children aged 4-6 years were identified as having autism spectrum disorder. In 2021, 1 in 95 children aged 6 years, 1 in 115 children aged 5 years, and 1 in 130 children aged 4 years were estimated to have autism spectrum disorder in Beijing. The incidence was 0.11% in 2019 and increased to 0.18% in 2021. There has been a great emphasis on the importance of early autism spectrum disorder diagnosis in large cities in China.

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