1. Akpeke M, Agbemavi W, Adde KS. Factors that inhibit the social involvement of children with autism: perspectives of parents in the Cape Coast metropolis. BMC Pediatr. 2024; 24(1): 825.

BACKGROUND: Many countries, including Ghana, continue to face challenges concerning the social involvement of persons with disabilities such as autism. This study investigated the factors that inhibit the social involvement of children with autism in the Cape Coast Metropolis. METHODS: The study was conducted in the Cape Coast metropolis. A qualitative interpretivism approach was used. Twenty-three participants were recruited for the study using purposive sampling. An in-depth interview guide was employed for data collection, and thematic analysis was used. RESULTS: We found that most autistic children do not get the opportunity to be involved in social activities due to their autistic features, socio-cultural and their parents’ financial status. The findings also showed that the inability of children with autism to speak fluently and sit for long without being aggressive prevents their inclusion in social activities. However, older children with autism were considered more for activities in the metropolis than those within the younger ages. Financial constraint was a common challenge that prevented some parents from bringing up their children with autism in ways that would make them considerable for social roles. CONCLUSION: Factors such as autistic features, sociocultural and financial constraints inhibited the social involvement of children with autism. Underlining these barriers is the issue of inadequate knowledge of autism and financial barriers for parents of children with autism. We, therefore, recommended that the Ghana Health Service and the Ministry of Health to intensify advocacy programs targeted at educating the public on autism to reduce discrimination.

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2. Alsaedi RH, Carrington S, Watters JJ. Correction: Caregivers’ Assessment of the Sensory Processing Patterns Exhibited by Children with Autism in the Gulf Region. J Autism Dev Disord. 2024.

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3. Anderson KA, Radey M, Bishop L, Aguirre Mtanous NG, Koenig J, Shea L. Material hardship and sources of support for autistic adolescents and their families. Autism. 2024: 13623613241304503.

Our study looks at how families with autistic teenagers manage financially compared with families with teenagers who do not have autism. We know that money matters are a big part of life’s overall quality and that autistic individuals and their families often face more financial challenges. These challenges can affect their health, social connections, and access to needed services. What our research adds is a closer look at these financial difficulties by considering not just how much money a family has but also what they own, their struggles to meet basic needs, and the help they get from both government programs and their own social circles. We found that families with autistic teenagers often deal with more financial problems, including not having enough food, even though they might be using available support programs. This is important because it shows us that the current ways of helping may not be enough. Our findings suggest we need to think more broadly about how to support these families. This could mean making policies that better address their unique needs or coming up with new ways to help them that go beyond just looking at income. Understanding these challenges better can help us make life better for autistic individuals and their families.

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4. Avolio E, Olivito I, Leo A, De Matteo C, Guarnieri L, Bosco F, Mahata SK, Minervini D, Alò R, De Sarro G, Citraro R, Facciolo RM. Vasostatin-1 restores autistic disorders in an idiopathic autism model (BTBR T+ Itpr3(tf)/J mice) by decreasing hippocampal neuroinflammation. Prog Neuropsychopharmacol Biol Psychiatry. 2024; 135: 111131.

Chromogranin A (CgA), a ∼ 49 kDa acidic secretory protein, is ubiquitously distributed in endocrine and neuroendocrine cells and neurons. As a propeptide, CgA is proteolytically cleaved to generate several peptides of biological importance, including pancreastatin (PST: hCgA(250)(-)(301)), Vasostatin 1 (VS1: hCgA(1-76)), and catestatin (CST: CgA (352)(-)(372)). VS1 represents the most conserved fragment of CgA. A 20 amino acid domain within VS1 (CgA 47-66) exhibits potent antimicrobial and anti-inflammatory activities. Autism is known to be associated with inflammation. Therefore, we seek to test the hypothesis that VS1 modulates autism behaviors by reducing inflammation in the hippocampus. Treatment of C57BL/6 (B6) and BTBR (a mouse model of idiopathic autism) mice with VS1 revealed the following: BTBR mice showed a significant decrease in chamber time in the presence of a stranger or a novel object. Treatment with VS1 significantly increased chamber time in both cases, underscoring a crucial role for VS1 in improving behavioral deficits in BTBR mice. In contrast to chamber time, sniffing time in BTBR mice in the presence of a stranger was less compared to B6 control mice. VS1 did not improve this latter parameter. Surprisingly, sniffing time in BTBR mice in the presence of a novel object was comparable with B6 mice. Proinflammatory cytokines such as IL-6 and IL-1b, as well as other inflammatory markers, were elevated in BTBR mice, which were dramatically reduced after supplementation with VS1. Interestingly, even Beclin-1/p62, pAKT/AKT, and p-p70-S6K/p70-S6K ratios were notably reduced by VS1. We conclude that VS1 plays a crucial role in restoring autistic spectrum disorders (ASD) plausibly by attenuating neuroinflammation.

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5. Chisholm K, Schirmbeck F, Pinkham AE, Sasson NJ, Simons CJP, de Haan L, Harvey PD, Penn DL, Ziermans T. A Cross-sectional Conceptual Replication and Longitudinal Evaluation of the PANSS-Autism-Severity-Score Measure Suggests it Does Not Capture Autistic Traits in Individuals With Psychosis. Schizophr Bull. 2024; 51(1): 186-97.

BACKGROUND: Autism and psychosis co-occur at elevated rates, with implications for clinical outcomes, functioning, and suicidality. The PANSS-Autism-Severity-Score (PAUSS) is a measure of autism trait severity which has not yet been validated externally or longitudinally. STUDY DESIGN: Participants were derived from the GROUP and SCOPE datasets. Participants included 1448 adults with schizophrenia spectrum disorder (SSD), 800 SSD-siblings, 103 adults diagnosed with an autistic spectrum condition (ASC), and 409 typically-developing controls (TC). Analyses from the original validation study were conducted with SSD participants, and extended into ASC, SSD-sibling, and TC participants. Test-retest reliability of the PAUSS at 2-weeks and long-term stability 3 and 6-years was also examined. STUDY RESULTS: Results differed in important ways from the original validation. SSD participants reported higher PAUSS scores than other groups, with only a fraction of ASC participants scoring as « PAUSS-Autistic. » Cronbach’s alpha was acceptable for the SSD cohort only. Two-week stability of the PAUSS was fair to good for all PAUSS scores. Long-term stability was poor for most PAUSS items but fair for total PAUSS score. CONCLUSIONS: Results suggest that the PAUSS does not appear appropriate for assessing autism, with the low rate of PAUSS-Autistic in the ASC population suggesting the PAUSS may not accurately reflect characteristics of autism. The relative lack of long-term stability is cause for concern and suggestive that the PAUSS is capturing features of psychosis rather than autism traits.

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6. Choi A, Kim B, Labriola E, Wiest A, Wang Y, Smith J, Shin H, Jin X, An I, Hong J, Antila H, Thomas S, Bhattarai JP, Beier K, Ma M, Weber F, Chung S. Circuit mechanism underlying fragmented sleep and memory deficits in 16p11.2 deletion mouse model of autism. iScience. 2024; 27(12): 111285.

Sleep disturbances are prevalent in children with autism spectrum disorder (ASD). Strikingly, sleep problems are positively correlated with the severity of ASD symptoms, such as memory impairment. However, the neural mechanisms underlying sleep disturbances and cognitive deficits in ASD are largely unexplored. Here, we show that non-rapid eye movement sleep (NREMs) is fragmented in the 16p11.2 deletion mouse model of ASD. The degree of sleep fragmentation is reflected in an increased number of calcium transients in the activity of locus coeruleus noradrenergic (LC-NE) neurons during NREMs. In contrast, optogenetic inhibition of LC-NE neurons and pharmacological blockade of noradrenergic transmission using clonidine consolidate sleep. Furthermore, inhibiting LC-NE neurons restores memory. Finally, rabies-mediated screening of presynaptic neurons reveals altered connectivity of LC-NE neurons with sleep- and memory-regulatory regions in 16p11.2 deletion mice. Our findings identify a crucial role of the LC-NE system in regulating sleep stability and memory in ASD.

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7. Davies J, Melinek R, Livesey A, Killick E, Sam E, Romualdez AM, Pellicano E, Remington A. ‘I did what I could to earn some money and be of use’: A qualitative exploration of autistic people’s journeys to career success and fulfilment. Autism. 2024: 13623613241292177.

Many autistic people want to work but have trouble finding jobs they like and can stick with. Most research tries to help more autistic people get jobs, but does not look at whether those jobs are fulfilling, or how people progress once they start working. We spoke to 18 autistic people about their experiences at work, and their ideas about success at work. Participants said finding fulfilment in their careers was key. We found five common ‘themes’ across the interviews. First, autistic people’s careers often take unexpected turns. For example, many participants only got diagnosed as adults, which sometimes changed their work plans. Second, autistic people might need ongoing help with their career, including help with finding jobs they would enjoy and be good at, and advice on how to progress in their job. Third, getting along with others at work is really important. Having supportive colleagues helped our participants thrive, but workplace bullying forced some to leave their jobs. Fourth, workplaces need to be welcoming to everybody. Adjustments and understanding managers helped, but many of our participants’ workplaces were not inclusive. Finally, bad work experiences can be devastating for mental health and well-being and negative experiences like bullying led some participants to quit working entirely. Our findings show that lifelong support tailored to each person and welcoming workplaces are important for autistic people to thrive at work. It is not enough to just hire autistic people – we need to help them have jobs they like and can stick with long-term.

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8. Dickinson A, McDonald N, Dapretto M, Campos E, Senturk D, Jeste S. Accelerated Infant Brain Rhythm Maturation in Autism. Dev Sci. 2025; 28(1): e13593.

Electroencephalography (EEG) captures characteristic oscillatory shifts in infant brain rhythms over the first year of life, offering unique insights into early functional brain development and potential markers for detecting neural differences associated with autism. This study used functional principal component analysis (FPCA) to derive dynamic markers of spectral maturation from task-free EEG recordings collected at 3, 6, 9, and 12 months from 87 infants, 51 of whom were at higher likelihood of developing autism due to an older sibling diagnosed with the condition. FPCA revealed three principal components explaining over 96% of the variance in infant power spectra, with power increases between 6 and 9 Hz (FPC1) representing the most significant age-related trend, accounting for more than 71% of the variance. Notably, this oscillatory change occurred at a faster rate in infants later diagnosed with autism, indicated by a steeper trajectory of FPC1 scores between 3 and 12 months (p < 0.001). Age-related spectral changes were consistent regardless of familial likelihood status, suggesting that differences in oscillatory timing are associated with autism outcomes rather than genetic predisposition. These findings indicate that while the typical sequence of oscillatory maturation is preserved in autism, the timing of these changes is altered, underscoring the critical role of timing in autism pathophysiology and the development of potential screening tools.

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9. Feng Y, Huang X, Zhao W, Ming Y, Zhou Y, Feng R, Xiao J, Shan X, Kang X, Duan X, Chen H. Association among internalizing problems, white matter integrity, and social difficulties in children with autism spectrum disorder. Prog Neuropsychopharmacol Biol Psychiatry. 2024; 135: 111109.

Autism spectrum disorder (ASD) is characterized by social difficulties and often accompanied by internalizing and externalizing problems, which are frequently overlooked. Here, we examined and compared fractional anisotropy (FA) between 79 children with ASD (aged 4-7.8 years) and 70 age-, gender-, and handedness- matched typically developing controls (TDCs, aged 3-7.2 years). We aimed to explore the relationship among social difficulties, internalizing and externalizing problems, and brain structural foundation (characterized by white matter integrity). Compared with the TDCs, the children with ASD exhibited more severe internalizing and externalizing problems, which were positively correlated with social difficulties. Reduced FA values were observed in specific white matter tracts that integrate a fronto-temporal-occipital circuit. In particular, the FA values within this circuit were negatively correlated with internalizing problems and SRS-TOTAL scores. Mediation analysis revealed that internalizing problems mediated the relationship between the FA values in the left middle longitudinal fasciculus (L-MdLF) and corpus callosum forceps major (CCM) and social difficulties in children with ASD. These findings contribute to our understanding of social difficulties, internalizing and externalizing problems, and white matter integrity in children with ASD and highlight internalizing problems as a mediator between social difficulties and white matter integrity.

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10. Fernandes Moll M, Arena Ventura CA, Matos A, Rizzo Zanardo AB, Velasco Melo MC, Santos Silva RD. Creation and Validation of an Educational Booklet on Autism Spectrum Disorder. Rev Colomb Psiquiatr (Engl Ed). 2024; 53(4): 496-504.

OBJECTIVES: To develop and validate an educational booklet that contributes to alleviating the difficulties experienced by family members of children diagnosed as being on the Autism Spectrum. METHODS: A descriptive exploratory study with a quali-quantitative approach. Ten families of children on the autism spectrum and twelve judges participated in the validation. Data collection took place through open interviews and data was analysed according to the procedures recommended by Bardin. RESULTS: Difficulties identified included problems in children’s verbal and non-verbal communication, daily care, school inclusion, late diagnosis due to the lack of specialists, and lack of psychological support for the family and for handling the child during an episode of crisis. Informational needs included early diagnosis, evolution and management of crises, children’s ability to learn daily life activities, and information about their right to inclusion in formal education. Based on these difficulties and needs, the booklet was created and validated by eight experts and four family members. Comparing the average of positive reviews in each section, which were obtained in the first and second evaluations, there was a general improvement in the quality of the booklet. CONCLUSIONS: The validation of educational materials on this topic can be essential to improve the quality of life of children, families, and educators.

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11. Giua G, Strauss B, Lassalle O, Chavis P, Manzoni OJ. Adaptive group behavior of Fragile X mice in unfamiliar environments. Prog Neuropsychopharmacol Biol Psychiatry. 2024; 135: 111111.

Fragile X Syndrome (FXS) stands out as a prominent cause of inherited intellectual disability and a prevalent disorder closely linked to autism. FXS is characterized by substantial alterations in social behavior, encompassing social withdrawal, avoidance of eye contact, heightened social anxiety, increased arousal levels, language deficits, and challenges in regulating emotions. Conventional behavioral assessments primarily focus on short-term interactions within controlled settings. In this study, we conducted a comprehensive examination of the adaptive group behavior of Fmr1 KO male mice over a three-day period, without introducing experimental interventions or task-based evaluations. The data unveiled intricate behavioral anomalies, with the most significant changes manifesting during the initial adaptation to unfamiliar environments. Notably, certain behaviors exhibited a gradual return to typical patterns over time. This dynamic Fmr1 KO phenotype exhibited heightened activity, featuring increased exploration, amplified social interest, and an unconventional approach to social interactions characterized by a higher frequency of shorter engagements. These findings contribute to the growing understanding of social behavior in individuals with FXS and underscore the significance of comprehending their adaptive responses in various environmental contexts.

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12. Gonzalez-Herrero B, Happé F, Nicholson TR, Morgante F, Pagonabarraga J, Deeley Q, Edwards MJ. Functional Neurological Disorder and Autism Spectrum Disorder: A Complex and Potentially Significant Relationship. Brain Behav. 2024; 14(12): e70168.

INTRODUCTION: Functional neurological disorder (FND) and autism spectrum disorder (ASD) are two complex neuropsychiatric conditions that have been historically classified within psychiatric domains, resulting in a lack of extensive research, insufficient clinical recognition, and persistent societal stigma. In recent years, there has been an increasing recognition among professionals and affected individuals of their possible overlap. This review explores the potential clinical and mechanistic overlap between FND and ASD, with particular attention to shared symptoms across sensory, motor, and psychiatric domains. METHODS: We conducted a narrative analysis utilizing the PubMed, CINAHL, MEDLINE, and ScienceDirect databases from inception to June 2024. The search employed specific MeSH terms related to ASD and FND. Given the limited data availability, we included all relevant articles that explored the potential connections between FND and ASD, focusing on established findings and theoretical hypotheses areas. RESULTS: Scientific evidence indicates that FND and ASD may co-occur more frequently than previously acknowledged and with notable overlaps in their clinical presentations and pathophysiology. Theoretical models that have been applied to FND and ASD, such as the Bayesian brain theory and the tripartite model of autism, may provide valuable insights into the intersection of these conditions. Although much of the current evidence remains speculative, it underscores the need for hypothesis-driven research to investigate these potential connections further. CONCLUSION: ASD and FND are heterogeneous conditions that appear to co-occur in a subset of individuals, with overlapping symptomatology and possibly shared underlying mechanisms. This hypothesis-generating review emphasizes the need for further research to better understand these links, ultimately aiming to improve clinical recognition and develop targeted interventions that enhance the quality of life for affected individuals.

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13. Gosselin Hills J, Bowen SK. Kendra’s journey: an intrinsic case study of a deaf autistic child. J Deaf Stud Deaf Educ. 2024; 30(1): 126-37.

This study used an intrinsic case study to investigate how interventions from applied behavior analysis impacted language development, academic progress, and the reduction of severe challenging behaviors for an 8-year-old child who is Deaf and autistic. 3 main themes were identified: language acquisition, behavioral change strategies, and academic performance. Additionally, 2 common threads wove in and out of each and connected all 3 themes: language access and qualified providers, including Deaf professionals. This study expands the literature about using behavioral strategies with children who are Deaf and autistic and discusses implications for clinical and educational practice.

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14. Grzadzinski R, Mata K, Bhatt AS, Jatkar A, Garic D, Shen MD, Girault JB, St John T, Pandey J, Zwaigenbaum L, Estes A, Shen AM, Dager S, Schultz R, Botteron K, Marrus N, Styner M, Evans A, Kim SH, McKinstry R, Gerig G, Piven J, Hazlett H. Brain volumes, cognitive, and adaptive skills in school-age children with Down syndrome. J Neurodev Disord. 2024; 16(1): 70.

BACKGROUND: Down syndrome (DS) is the most common congenital neurodevelopmental disorder, present in about 1 in every 700 live births. Despite its prevalence, literature exploring the neurobiology underlying DS and how this neurobiology is related to behavior is limited. This study fills this gap by examining cortical volumes and behavioral correlates in school-age children with DS. METHODS: School-age children (mean = 9.7 years ± 1.1) underwent comprehensive assessments, including cognitive and adaptive assessments, as well as an MRI scan without the use of sedation. Children with DS (n = 35) were compared to available samples of typically developing (TD; n = 80) and ASD children (n = 29). ANOVAs were conducted to compare groups on cognitive and adaptive assessments. ANCOVAs (covarying for age, sex, and total cerebral volume; TCV) compared cortical brain volumes between groups. Correlations between behavioral metrics and cortical and cerebellar volumes (separately for gray (GM) and white matter (WM)) were conducted separately by group. RESULTS: As expected, children with DS had significantly lower cognitive skills compared to ASD and TD children. Daily Living adaptive skills were comparable between ASD children and children with DS, and both groups scored lower than TD children. Children with DS exhibited a smaller TCV compared to ASD and TD children. Additionally, when controlling for TCV, age, and sex, children with DS had significantly smaller total GM and tissue volumes. Cerebellum volumes were significantly correlated with Daily Living adaptive behaviors in the DS group only. CONCLUSIONS: Despite children with DS exhibiting lower cognitive skills and smaller brain volume overall than children with ASD, their deficits in Socialization and Daily Living adaptive skills are comparable. Differences in lobar volumes (e.g., Right Frontal GM/WM, Left Frontal WM, and Left and Right Temporal WM) were observed above and beyond overall differences in total volume. The correlation between cerebellum volumes and Daily Living adaptive behaviors in the DS group provides a novel area to explore in future research.

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15. Hodge MA, Sutherland R, Boulton KA, Baracz SJ, Ong N, Bennett B, Guastella AJ, Silove N. Focusing on autism symptoms masks sex-specific needs of autistic children: An example from the Sydney Child Neurodevelopment Research Registry. Autism. 2024: 13623613241303550.

Studies have shown that there is a difference between biological sex at birth in autism spectrum disorder. There remains a lack of understanding about how the symptoms of autism differ between assigned males at birth and assigned females at birth. We looked at the presence of sex differences in a large group of autistic toddlers, children and adolescents, who were seen in a large diagnosis and assessment clinic. They participated in measures of intelligence/development, social/communication skills and behaviour. Their adaptive skills were evaluated and other clinical and information were collected. Assigned males at birth displayed more autism characteristics and greater symptom autism severity than assigned females at birth. There were no statistically significant differences between assigned males at birth and assigned females at birth on any measure of intellectual assessment. Assigned females at birth showed better nonverbal performance than assigned males at birth on formal developmental assessments. Children assigned males at birth received assessments 6 months earlier than children assigned females at birth. Externalising behaviour problems were more evident in assigned males at birth. This study provides evidence to show that autistic children assigned females at birth and assigned males at birth differ in terms of autism symptoms and severity and age at diagnosis based on a sample recruited in a real-world clinic. It highlights the importance of the growing debate between balancing assessments of symptoms with assessment of adaptive function.

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16. Hussein MH, Alameen AA, Ansari MA, AlSharari SD, Ahmad SF, Attia MSM, Sarawi WS, Nadeem A, Bakheet SA, Attia SM. Semaglutide ameliorated autism-like behaviors and DNA repair efficiency in male BTBR mice by recovering DNA repair gene expression. Prog Neuropsychopharmacol Biol Psychiatry. 2024; 135: 111091.

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder that is marked by impaired social interactions, and increased repetitive behaviors. There is evidence of genetic changes in ASD, and several of these altered genes are linked to the process of DNA repair. Therefore, individuals with ASD must have improved DNA repair efficiency to mitigate risks associated with ASD. Despite numerous milestones in ASD research, the disease remains incurable, with a high occurrence rate and substantial financial burdens. This motivates scientists to search for new drugs to manage the disease. Disruption of glucagon-like peptide-1 (GLP-1) signaling, a regulator in neuronal development and maintains homeostasis, has been associated with the pathogenesis and progression of several neurological disorders, such as ASD. Our study aimed to assess the impact of semaglutide, a new GLP-1 analog antidiabetic medication, on behavioral phenotypes and DNA repair efficiency in the BTBR autistic mouse model. Furthermore, we elucidated the underlying mechanism(s) responsible for the ameliorative effects of semaglutide against behavioral problems and DNA repair deficiency in BTBR mice. The current results demonstrate that repeated treatment with semaglutide efficiently decreased autism-like behaviors in BTBR mice without affecting motor performance. Semaglutide also mitigated spontaneous DNA damage and enhanced DNA repair efficiency in the BTBR mice as determined by comet assay. Moreover, administering semaglutide recovered oxidant-antioxidant balance in BTBR mice. Semaglutide restored the disrupted DNA damage/repair pathways in the BTBR mice by reducing Gadd45a expression and increasing Ogg1 and Xrcc1 expression at both the mRNA and protein levels. This suggests that semaglutide holds great potential as a novel therapeutic candidate for treating ASD traits.

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17. Kuodza GE, Kawai R, LaSalle JM. Intercontinental insights into autism spectrum disorder: a synthesis of environmental influences and DNA methylation. Environ Epigenet. 2024; 10(1): dvae023.

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder characterized by a broad range of symptoms. The etiology of ASD is thought to involve complex gene-environment interactions, which are crucial to understanding its various causes and symptoms. DNA methylation is an epigenetic mechanism that potentially links genetic predispositions to environmental factors in the development of ASD. This review provides a global perspective on ASD, focusing on how DNA methylation studies may reveal gene-environment interactions characteristic of specific geographical regions. It delves into the role of DNA methylation in influencing the causes and prevalence of ASD in regions where environmental influences vary significantly. We also address potential explanations for the high ASD prevalence in North America, considering lifestyle factors, environmental toxins, and diagnostic considerations. Asian and European studies offer insights into endocrine-disrupting compounds, persistent organic pollutants, maternal smoking, and their associations with DNA methylation alterations in ASD. In areas with limited data on DNA methylation and ASD, such as Africa, Oceania, and South America, we discuss prevalent environmental factors based on epidemiological studies. Additionally, the review integrates global and country-specific prevalence data from various studies, providing a comprehensive picture of the variables influencing ASD diagnoses over region and year of assessment. This prevalence data, coupled with regional environmental variables and DNA methylation studies, provides a perspective on the complexities of ASD research. Integrating global prevalence data, we underscore the need for a comprehensive global understanding of ASD’s complex etiology. Expanded research into epigenetic mechanisms of ASD is needed, particularly in underrepresented populations and locations, to enhance biomarker development for diagnosis and intervention strategies for ASD that reflect the varied environmental and genetic landscapes worldwide.

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18. Lafleur A, Caron V, Forgeot d’Arc B, Soulieres I. EXPRESS: Atypical Implicit and Explicit Sense of Agency in Autism: a complete characterization using the Cue integration approach. Q J Exp Psychol (Hove). 2024: 17470218241311582.

There exist indications that sense of agency (SoA), the experience of being the cause of one’s own actions and actions’ outcomes, is altered in autism. However, no studies in autism have simultaneously investigated the integration mechanisms underpinning both implicit and explicit SoA, the two levels of agency proposed by the innovative Cue integration approach. Our study establishes a first complete characterization of SoA functioning in autism, by comparing age- and IQ-matched samples of autistic versus neurotypical adults. Intentional binding and judgments of agency were used to assess implicit and explicit SoA over pinching movements with visual outcomes. Sensorimotor and contextual cues were manipulated using feedback alteration and induced belief about the cause of actions’ outcome. Implicit SoA was altered in autism, as showed by an overall abolished intentional binding effect and greater inter-individual heterogeneity. At the explicit level, we observed an under-reliance on retrospective sensorimotor cues. The implicit-explicit dynamic was also altered in comparison to neurotypical individuals. Our results show that both implicit and explicit levels of SoA, as well as the dynamic between the two levels, present atypicalities in autism.

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19. Lam GYH, Chow CKC, Chan SW. A qualitative exploration of the experience of autistic females in Hong Kong. Autism. 2024: 13623613241295318.

There are more males than females with autism. One of the reasons can be that we do not understand autistic females well. Some research in Western cultures has begun to document the lived experience of autistic females, but no such studies are conducted with Chinese autistic females. This study explored the first-person experience of living with autism in Hong Kong autistic women. We conducted qualitative interviews with 13 women with a formal diagnosis of autism or self-diagnosed as autistic. We used semi-structured interviews to discuss how they came to recognize or identify with autism, their diagnostic experience, and their understanding of autistic females. We summarized several broad themes that depicted their experience. Participants recognized autism in themselves when seeing other autistic people. They indicated mental health challenges that led them to seek help from professionals, who might sometimes reject their concerns about autism. Participants found it meaningful to have an autism diagnosis or identity, but other people’s judgment would affect their self-understanding. Participants also described themselves different from the stereotypes of autism, not the same as autistic males, and were perceived by others as not autistic enough. Our findings suggested autistic women in Hong Kong faced challenges in identity development and support services. There is a need to increase awareness and knowledge about autism in professionals and the public. Understanding how unique cultural factors that influence the identity of autistic women or individuals in Chinese cultures is important to promote their well-being.

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20. Lau JC, Landau E, Zeng Q, Zhang R, Crawford S, Voigt R, Losh M. Pre-trained artificial intelligence language model represents pragmatic language variability central to autism and genetically related phenotypes. Autism. 2024: 13623613241304488.

Autism is clinically defined by challenges with social language, including difficulties offering on-topic language in a conversation. Similar differences are also seen in genetically related conditions such as fragile X syndrome (FXS), and even among those carrying autism-related genes who do not have clinical diagnoses (e.g., the first-degree relatives of autistic individuals and carriers of the FMR1 premutation), which suggests there are genetic influences on social language related to the genes involved in autism. Characterization of social language is therefore important for informing potential intervention strategies and understanding the causes of communication challenges in autism. However, current tools for characterizing social language in both clinical and research settings are very time and labor intensive. In this study, we test an automized computational method that may address this problem. We used a type of artificial intelligence known as pre-trained language model to measure aspects of social language in autistic individuals and their parents, non-autistic comparison groups, and individuals with FXS and the FMR1 premutation. Findings suggest that these artificial intelligence approaches were able to identify differences in social language in autism, and to provide insight into the individuals’ ability to keep a conversation on-topic. These findings also were associated with broader measures of participants’ social communication ability. This study is one of the first to use artificial intelligence models to capture important differences in social language in autism and genetically related groups, demonstrating how artificial intelligence might be used to provide automatized, efficient, and objective tools for language characterization.

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21. Lee JC, Chen CM, Sun CK, Tsai IT, Cheng YS, Chiu HJ, Wang MY, Tang YH, Hung KC. The therapeutic effects of probiotics on core and associated behavioral symptoms of autism spectrum disorders: a systematic review and meta-analysis. Child Adolesc Psychiatry Ment Health. 2024; 18(1): 161.

BACKGROUND: We aimed at investigating the efficacies of probiotics in alleviating the core and associated symptoms of autism spectrum disorder (ASD). METHODS: Randomized placebo-controlled trials were identified from major electronic databases from inception to Nov 2023. The outcomes of interests including improvements in the total and associated symptoms of ASD were quantitatively expressed as effect size (ES) based on standardized mean difference (SMD) with 95% confidence interval (CI). RESULTS: Ten studies with 522 participants (mean age = 8.11) were included in this meta-analysis. The primary results revealed significant improvement in total symptoms in the probiotics group compared with the controls (SMD = - 0.19, p = 0.03, ten studies, n = 522) but not the core symptoms (i.e., repetitive restricted behaviors, As affiliations 3 and 5 are same, we have deleted the duplicate affiliations and renumbered accordingly. Please check and confirm.problems with social behaviors/communication). Subgroup analyses demonstrated improvement in total symptoms in probiotics users relative to their controls only in studies using multiple-strain probiotics (SMD = - 0.26, p = 0.03, five studies, n = 288) but not studies using single-strain regimens. Secondary results showed improvement in adaptation (SMD = 0.37, p = 0.03, three studies, n = 139) and an improvement trend in anxiety symptoms in the probiotics group compared with controls (SMD = - 0.29, 95% CI - 0.60 to 0.02, p = 0.07, three studies, n = 163) but failed to demonstrate greater improvement in the former regarding symptoms of irritability/aggression, hyperactivity/impulsivity, inattention, and parental stress. CONCLUSIONS: Our study supported probiotics use against the overall behavioral symptoms of ASD, mainly in individuals receiving multiple-strain probiotics as supplements. However, our results showed that probiotics use was only associated with improvement in adaptation and perhaps anxiety, but not core symptoms, highlighting the impact of adaptation on quality of life rather than just the core symptoms. Nevertheless, the limited number of included trials warrants further large-scale clinical investigations.

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22. Li Y, Gu J, Li R, Yi H, He J, Gao J. Sensory and motor cortices parcellations estimated via distance-weighted sparse representation with application to autism spectrum disorder. Prog Neuropsychopharmacol Biol Psychiatry. 2024; 135: 111125.

BACKGROUND: Motor impairments and sensory processing abnormalities are prevalent in autism spectrum disorder (ASD), closely related to the core functions of the primary motor cortex (M1) and the primary somatosensory cortex (S1). Currently, there is limited knowledge about potential therapeutic targets in the subregions of M1 and S1 in ASD patients. This study aims to map clinically significant functional subregions of M1 and S1. METHODS: Resting-state functional magnetic resonance imaging data (NTD = 266) from Autism Brain Imaging Data Exchange (ABIDE) were used for subregion modeling. We proposed a distance-weighted sparse representation algorithm to construct brain functional networks. Functional subregions of M1 and S1 were identified through consensus clustering at the group level. Differences in the characteristics of functional subregions were analyzed, along with their correlation with clinical scores. RESULTS: We observed symmetrical and continuous subregion organization from dorsal to ventral aspects in M1 and S1, with M1 subregions conforming to the functional pattern of the motor homunculus. Significant intergroup differences and clinical correlations were found in the dorsal and ventral aspects of M1 (p < 0.05/3, Bonferroni correction) and the ventromedial BA3 of S1 (p < 0.05/5). These functional characteristics were positively correlated with autism severity. All subregions showed significant results in the ROI-to-ROI intergroup differential analysis (p < 0.05/80). LIMITATIONS: The generalizability of the segmentation model requires further evaluation. CONCLUSIONS: This study highlights the significance of M1 and S1 in ASD treatment and may provide new insights into brain parcellation and the identification of therapeutic targets for ASD.

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23. Lu JH, Wei H, Zhang Y, Fei F, Huang HY, Dong QJ, Chen J, Ao DQ, Chen L, Li TY, Li Y, Dai Y. Effects of remote support courses on parental mental health and child development in autism: A randomized controlled trial. World J Psychiatry. 2024; 14(12): 1892-904.

BACKGROUND: Sustaining the mental health of autistic children’s parents can be demanding. AIM: To determine the effect of remote support courses on the mental health of parents and the development of autistic children. METHODS: Parents of 140 autistic children were randomly assigned to two groups receiving a 2-week intervention: The control group received caregiver-mediated intervention (CMI); the experimental group received CMI with remote family psychological support courses (R-FPSC). The Parenting Stress Index-Short Form, Parenting Sense of Competence Scale, Generalized Anxiety Disorder-7, and Patient Health Questionnaire-9 were used to measure parents’ mental health. The Childhood Autism Rating Scale and Gesell Developmental Schedules were used to evaluate children’s development. RESULTS: Improved parenting stress, sense of competence, depression, and anxiety were found in both groups, but improvements in parenting stress (81.10 ± 19.76 vs 92.10 ± 19.26, P < 0.01) and sense of competence (68.83 ± 11.23 vs 63.91 ± 10.86, P < 0.01) were greater in the experimental group, although the experimental group showed no significant reduction in depression or anxiety. Children's development did not differ significantly between the groups at follow-up; however, experimental group parents exhibited a short-term increase in training enthusiasm (12.78 ± 3.16 vs 11.57 ± 3.15, P < 0.05). CONCLUSION: Integrating R-FPSC with CMI may be effective in reducing parenting stress, enhancing parents' sense of competence, and increasing parents' training enthusiasm.

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24. Nuwer R. Can psychedelics improve well-being in autism?. Science. 2024; 386(6728): 1333.

A brace of new studies probes benefits and risks for an understudied group.

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25. Parvathy S, Basu B, Surya S, Jose R, Meera V, Riya PA, Jyothi NP, Sanalkumar R, Praz V, Riggi N, Nair BS, Gulia KK, Kumar M, Binukumar BK, James J. TLX3 regulates CGN progenitor proliferation during cerebellum development and its dysfunction can lead to autism. iScience. 2024; 27(12): 111260.

Tlx3, a master regulator of the fate specification of excitatory neurons, is primarily known to function in post-mitotic cells. Although we have previously identified TLX3 expression in the proliferating granule neuron progenitors (GNPs) of cerebellum, its primary role is unknown. Here, we demonstrate that the dysfunction of Tlx3 from the GNPs significantly reduced its proliferation through regulating anti-proliferative genes. Consequently, the altered generation of GNPs resulted in cerebellar hypoplasia, patterning defects, granule neuron-Purkinje ratio imbalance, and aberrant synaptic connections in the cerebellum. This altered cerebellar homeostasis manifested into a typical autism-like behavior in mice with motor, and social function disabilities. We also show the presence of TLX3 variants with uncharacterized mutations in human cases of autism spectrum disorder (ASD). Altogether, our study establishes Tlx3 as a critical gene involved in developing GNPs and that its deletion from the early developmental stage culminates in autism.

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26. Pizza F, Tofani M, Biondo G, Giordani C, Murgioni C, Raponi M, Della Bella G, Cerchiari A. Translation, Cross-Cultural Adaptation and Validation of the Karaduman Chewing Performance Scale for the Italian Paediatric Population. J Eval Clin Pract. 2025; 31(1): e14283.

BACKGROUND: Chewing is a fundamental motor activity, but there is no specific assessment tool in Italian for paediatric rehabilitation. The Karaduman Chewing Performance Scale (KCPS) is a performance-based assessment tool that allow to classify chewing performance in childhood. OBJECTIVE: To translate, culturally adapt and assess reliability, criterion validity and cross-cultural validity of the KCPS into Italian in a paediatric population. METHODS: Following international guidelines, the KCPS was translated and culturally adapted into Italian. Inter-rater reliability was measured using the intraclass correlation coefficient (ICC), the criterion validity using the Pearson correlation coefficient comparing KCPS score with the Paediatric Screening-Priority Evaluation Dysphagia (PS-PED), and cross-cultural validity was examined across diagnostic groups. RESULTS: The study included 165 children with a mean age of 6.33 with different health conditions, namely autism spectrum disorder, cerebral palsy and genetic syndromes. The analysis revealed that KCPS was reliable measure with a ICC 0.93, and a moderate positive linear correlation with the PS-PED (Pearson 0.48) was found. In each diagnostic group, chewing performance disorders were found, highlighting specific characteristics. CONCLUSIONS: Despite limited sample in reliability analysis and the need of exploring the relationship with chewing abilities and severity of diseases, the KCPS was found a reliable and valid tool for determining the level of chewing performance in paediatric population. Now Italian clinicians can use it with more confidence in their clinical practice and research.

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27. Polver S, Cantiani C, Bulf H, Piazza C, Turati C, Molteni M, Riva V. Gamma oscillations and auditory perception: A cluster-based statistic investigation in infants at higher likelihood of autism and developmental language disorder. J Exp Child Psychol. 2024; 252: 106132.

The ability to process auditory information is one of the foundations of the ability to appropriately acquire language. Moreover, early difficulties in basic auditory abilities have cascading effects on the appropriate wiring of brain networks underlying higher-order linguistic processes. Language impairments represent core difficulties in two different but partially overlapping disorders: developmental language disorder (DLD) and autism spectrum disorder (ASD). The aim of this study was to investigate basic auditory processes in 12-month-old infants at high likelihood (HL) of developing either DLD or ASD in response to standard tones embedded in a non-speech multi-feature oddball paradigm to discern early differences in how auditory processing relates to language acquisition. To do so, we focused on gamma-band oscillations due to the role of gamma activity in coordinating activity among neural assemblies and thus enabling both sensory and higher-order processing. Considering reported hemispheric asymmetries in auditory and linguistic processing, we chose to refer to a cluster-based method to investigate the whole scalp activity in the gamma range. Our results show that HL-ASD infants are characterized by differences in auditory gamma compared with their typically developing peers. These results may imply an enhanced sensitivity to auditory stimuli in HL-ASD infants that might negatively affect their ability to regulate responses.

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28. Sandhu A, Rawat K, Gautam V, Kumar A, Sharma A, Bhatia A, Grover S, Saini L, Saha L. Neuroprotective effect of PPAR gamma agonist in rat model of autism spectrum disorder: Role of Wnt/β-catenin pathway. Prog Neuropsychopharmacol Biol Psychiatry. 2024; 135: 111126.

BACKGROUND: The clinical manifestation of autism spectrum disorder (ASD) is linked to the disruption of fundamental neurodevelopmental pathways. Emerging evidences claim to have an upregulation of canonical Wnt/β-catenin pathway while downregulation of PPARγ pathway in ASD. This study aims to investigate the therapeutic potential of pioglitazone, a PPARγ agonist, in rat model of ASD. The study further explores the possible role of PPARγ and Wnt/β-catenin pathway and their interaction in ASD by using their modulators. MATERIAL AND METHODS: Pregnant female Wistar rats received 600 mg/kg of valproic acid (VPA) to induce autistic symptoms in pups. Pioglitazone (10 mg/kg) was used to evaluate neurobehaviors, relative mRNA expression of inflammatory (IL-1β, IL-6, IL-10, TNF-α), apoptotic markers (Bcl-2, Bax, & Caspase-3) and histopathology (H&E, Nissl stain, Immunohistochemistry). Effect of pioglitazone was evaluated on Wnt pathway and 4 μg/kg dose of 6-BIO (Wnt modulator) was used to study the PPARγ pathway. RESULTS: ASD model was established in pups as indicated by core autistic symptoms, increased neuroinflammation, apoptosis and histopathological neurodegeneration in cerebellum, hippocampus and amygdala. Pioglitazone significantly attenuated these alterations in VPA-exposed rats. The expression study results indicated an increase in key transcription factor, β-catenin in VPA-rats suggesting an upregulation of canonical Wnt pathway in them. Pioglitazone significantly downregulated the Wnt signaling by suppressing the expression of Wnt signaling-associated proteins. The inhibiting effect of Wnt pathway on PPARγ activity was indicated by downregulation of PPARγ-associated protein in VPA-exposed rats and those administered with 6-BIO. CONCLUSION: In the present study, upregulation of canonical Wnt/β-catenin pathway was demonstrated in ASD rat model. Pioglitazone administration significantly ameliorated these symptoms potentially through its neuroprotective effect and its ability to downregulate the Wnt/β-catenin pathway. The antagonism between the PPARγ and Wnt pathway offers a promising therapeutic approach for addressing ASD.

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29. Seelemeyer H, Gurr C, Leyhausen J, Berg LM, Pretzsch CM, Schäfer T, Hermila B, Freitag CM, Loth E, Oakley B, Mason L, Buitelaar JK, Beckmann CF, Floris DL, Charman T, Banaschewski T, Jones E, Bourgeron T, Murphy D, Ecker C. Decomposing the Brain in Autism: Linking Behavioral Domains to Neuroanatomical Variation and Genomic Underpinnings. Biol Psychiatry Cogn Neurosci Neuroimaging. 2024.

BACKGROUND: Autism is accompanied by highly individualized patterns of neurodevelopmental differences in brain anatomy. This variability makes the neuroanatomy of autism inherently difficult to describe at the group level. Here, we examined inter-individual neuroanatomical differences using a dimensional approach that decomposed the domains of social communication and interaction (SCI), restricted and repetitive behaviors (RRB), and atypical sensory processing (ASP) within a neurodiverse study population. Moreover, we aimed to link the resulting neuroanatomical patterns to specific molecular underpinnings. METHODS: Neurodevelopmental differences in cortical thickness and surface area were correlated with SCI, RRB and ASP domain scores by regression of a General Linear Model in a large neurodiverse sample of N=288 autistic and N=140 non-autistic individuals, aged 6-30, recruited within the EU-AIMS Longitudinal European Autism Project (LEAP). The domain-specific patterns of neuroanatomical variability were subsequently correlated with cortical gene expression profiles via the Allan Human Brain Atlas. RESULTS: Across groups, behavioral variations in SCI, RRB and ASP were associated with interindividual differences in CT and SA in partially non-overlapping fronto-parietal, temporal, and occipital networks. These domain-specific imaging patterns were enriched for genes (i) differentially expressed in autism, (ii) mediating typical brain development, and that are (iii) associated with specific cortical cell types. Many of these genes were implicated in pathways governing synaptic structure and function. CONCLUSIONS: Our study corroborates the close relationship between neuroanatomical variation and interindividual differences in autism-related symptoms and traits within the general framework of neurodiversity, and links domain-specific patterns of neuroanatomical differences to putative molecular underpinnings.

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30. Shea L, Roux A, Wilson AB, Ventimiglia J, Carlton C, Lee WL, Cooper D, Frisbie S. Colliding public health priorities: A call to improve the understanding of autistic individuals utilizing housing assistance. PLoS One. 2024; 19(12): e0315008.

The objective of this study was to identify utilization of housing support provided by the U.S. Department of Housing and Urban Development (HUD) among autistic people in the U.S. Using 2008 and 2016 Medicaid data, we identified autistic individuals birth to 61 years and linked them to national HUD data. We characterized demographics, co-occurring conditions, and HUD program involvement. Autistic Medicaid enrollees enrolled in HUD increased by 70% between 2008 and 2016. Among 846,350 autistic Medicaid enrollees in 2016, 10.4% (n = 88,315) were HUD-assisted. HUD-assisted autistic individuals, versus non-HUD-assisted, were more likely to be Black/African American and less likely to have private insurance. Most lived in urban areas and were enrolled in the Housing Choice Voucher program. Approximately 2,600 autistic individuals (3%) were homeless at HUD entry. Growing numbers of HUD-assisted autistic individuals point toward an urgent need for federal data to understand and address public health contexts of housing affordability and instability to complement existing clinical autism research investments. Integrated public health, housing, and disability supports must address equitable income supports and housing assistance needed to support the health needs of autistic individuals.

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31. Sloper E, Hunt M, Clarke AJ. Review of a specialist Rett syndrome clinic from 2003 to the COVID pandemic: clinic experience and carer perspectives. Orphanet J Rare Dis. 2024; 19(1): 477.

BACKGROUND: We have held a ‘trouble-shooting’ clinic for Rett syndrome patients from 2003 until the COVID pandemic in 2020. The clinic was multidisciplinary, including clinical genetics, paediatric neurology, adult learning disability psychiatry and physiotherapy. Access to specialist communication support and eye-gaze equipment was also often available. We have reviewed the files of patients seen in the clinic and conducted a survey of parents’ and carers’ satisfaction with the clinic and their experiences during COVID. RESULTS: Of the 117 patients seen in the clinic, records were reviewed of 103 (97 female, six male) who attended a total of 123 appointments. The records were unavailable for 14 patients. The most common reasons for referral were assessment of ‘episodes’ of uncertain nature (possibly epileptic, possibly autonomic), the wish for a general review by an experienced team, and questions about the diagnosis. We discuss the nature of the advice we were able to provide and offer some brief case vignettes. We wrote to the parents or carers of all patients seen and 63 respondents were willing to be interviewed about the clinic and their experiences during COVID. Respondents were generally complimentary about the clinic team, emphasising the value of a specialist clinic for those affected by a rare condition. Respondents gave insight into the range of problems experienced during COVID, especially the isolation resulting from the withdrawal of services, demonstrating the value of community support. Some respondents mentioned the shift to remote consultations, which they hoped would continue after COVID for its convenience. However, others talked about how difficult it is in a remote consultation to explain the problems of the affected family member to professionals who do not know the patient or know about Rett syndrome. CONCLUSIONS: Our findings demonstrate the value of a disease-specific clinic provided by staff experienced with the particular rare condition. Meeting the needs of patients with ultra-rare conditions presents additional challenges. We have also found that the shift to holding a virtual clinic during COVID brought the benefit of convenience but was unsatisfactory in other ways, as it makes clinical assessment more difficult and fails to overcome the sense of isolation during a pandemic.

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32. Smith E, Dominick KC, Schmitt LM, Pedapati EV, Erickson CA. Specialization of the brain for language in children with Fragile X Syndrome: a functional Near Infrared Spectroscopy study. J Neurodev Disord. 2024; 16(1): 69.

Specialization of the brain for language is early emerging and essential for language learning in young children. Fragile X Syndrome (FXS) is a neurogenetic disorder marked by high rates of delays in both expressive and receptive language, but neural activation patterns during speech and language processing are unknown. We report results of a functional Near Infrared Spectroscopy (fNIRS) study of responses to speech and nonspeech sounds in the auditory cortex in a sample of 2- to 10-year-old children with FXS and typically developing controls (FXS n = 23, TDC n = 15, mean age = 6.44 and 7.07 years, respectively). Specifically, we measured changes in oxygenated and deoxygenated hemoglobin in the auditory cortex during blocks of speech and nonspeech matched noise in children with FXS and sex-and-age-matched controls. Similar to controls, children with FXS showed hemodynamic change consistent with neural activation of the primary auditory regions for speech as well as leftward lateralization for speech sound processing, strength of which was associated with higher verbal abilities in FXS. However, while controls showed neural differentiation of speech and nonspeech in the left auditory cortex, children with FXS did not demonstrate differentiation of the two conditions in this study. In addition, the children with FXS showed a greater neural activation to the nonspeech condition overall. Overall, these results suggest that basic patterns of neural activation for speech are present in FXS in childhood, but neural response to nonspeech sounds may differ in FXS when compared to controls.

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33. Sutherland D, Flynn S, Griffin J, Hastings RP. Programme Recipient and Facilitator Experiences of Positive Family Connections for Families of Children With Intellectual Disabilities and/or Who Are Autistic. J Appl Res Intellect Disabil. 2025; 38(1): e70003.

BACKGROUND: Family members of children with developmental disabilities on average report poorer family functioning and mental health. Positive Family Connections is a co-produced, positively-oriented, family-systems support programme for families of children with developmental disabilities aged 8-13. We investigated experiences of Positive Family Connections, and the processes involved in change. METHOD: We conducted semi-structured interviews with eight family carers who took part in Positive Family Connections and nine facilitators. Data were analysed using framework analysis. RESULTS: Programme recipients’ and facilitators generally reported positive experiences of Positive Family Connections and described beneficial effects on wellbeing and family relationships. We developed a model showing how the lived experience of facilitators and positive approach led to reductions in isolation and perceived changes in mindset that were described as improving family carers’ wellbeing and family relationships. CONCLUSIONS: Positive Family Connections appears to be an acceptable programme which programme recipients and facilitators perceive to be beneficial.

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34. Tan MY, Chong SC, Chinnadurai A, Guruvayurappan S. Screening for Depression in Caregivers of Children with Developmental Disabilities: A Quality Improvement Initiative. J Pediatr Health Care. 2024.

INTRODUCTION: Screening for depression in caregivers of children with developmental disabilities is not routine, representing missed opportunities for support. METHOD: A quality improvement project was initiated in our pediatric clinic. Root causes of limited screening included unclear guidelines for support, caregiver perception that help is unavailable, and lack of a quick screening tool. A clinical pathway was constructed and integrated into existing practice using quality improvement methodology. RESULTS: Baseline screening rate was 5%-10%. During the 12-week pilot, weekly rates ranged from 46.0% to 91.0% (mean 70.2%). Monthly rates subsequently averaged 55.0%. Approximately 20% had a positive screen; over half were caregivers of children with autism. About 5% had moderate depression, of whom 40% required referral to social workers. DISCUSSION: Structured depression screening of caregivers of children with developmental disabilities is feasible and sustainable in a busy clinic. Further research is needed to measure the impact on child and family outcomes.

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35. Tarzi G, Yip A, Jiwa MI, Thakur A, Mishra S, Koch L, Mendoza O, Perera A, McKenzie L, Lunsky Y. Experiences, attitudes, and knowledge of medical students regarding intellectual and developmental disability: a Canadian study. BMC Med Educ. 2024; 24(1): 1509.

BACKGROUND: As the healthcare of individuals with intellectual and developmental disabilities (IDD) shifts toward community-based services, physicians in all areas of medicine are more likely to care for this population. To ensure that all physicians can provide high-quality care to people with IDD, further understanding and attention to undergraduate medical education related to IDD is needed. METHODS: A 24-item survey assessed the experiences, attitudes, knowledge, skills, and future interest of Canadian medical students regarding IDD. Descriptive statistics were calculated for questionnaire responses and responses of students who had more in-depth experience were compared to those of students with minimal past experience. RESULTS: A total of 443 Canadian medical students completed the survey. Students did not feel competent obtaining clear histories from people with IDD. Most students were not confident they could provide quality care to this population but wanted further learning. Students with prior IDD experiences through family/friends felt more knowledgeable and interested in caring for this population than those with community/clinical and minimal experiences. DISCUSSION: Many Canadian medical students lack the knowledge and skills needed to adequately care for people with IDD. Despite this, a majority of students were interested in further learning opportunities to improve care for people with IDD. These findings underscore the necessity of evaluating the current medical curriculum and implementing measures to better prepare students to care for this population.

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36. Vidivelli S, Padmakumari P, Shanthi P. Multimodal autism detection: Deep hybrid model with improved feature level fusion. Comput Methods Programs Biomed. 2024; 260: 108492.

OBJECTIVE: Social communication difficulties are a characteristic of autism spectrum disorder (ASD), a neurodevelopmental condition. The earlier method of diagnosing autism largely relied on error-prone behavioral observation of symptoms. More intelligence approaches are in progress to diagnose the disorder, which still demands improvement in prediction accuracy. Furthermore, computer-aided design systems based on machine learning algorithms are extremely time-consuming and difficult to design. This study used deep learning techniques to develop a novel autism detection model in order to overcome these problems. METHODS: Preprocessing, Features extraction, Improved Feature level Fusion, and Detection are the phases of the suggested autism detection methodology. First, both input modalities will be preprocessed so they are ready for the next stages to be processed. In this case, the facial picture is preprocessed utilizing the Gabor filtering technique, while the input EEG data is preprocessed through Wiener filtering. Subsequently, features are extracted from the modalities, from the EEG signal data, features like Common Spatial Pattern (CSP), Improved Singular Spectrum Entropy, and correlation dimension, are extracted. From the face image, features like the Improved Active Appearance model, Gray-Level Co-occurrence matrix (GLCM) features and Proposed Shape Local Binary Texture (SLBT), as well are retrieved. Following extraction, enhanced feature-level fusion is performed to fuse the features. Ultimately, the combined features are fed into the hybrid model to complete the diagnosis. Models such as Convolutional Neural Networks (CNN) and Bidirectional Gated Recurrent Units (Bi-GRU) are part of the hybrid model. RESULTS: The suggested MADDHM model achieved an accuracy of about 91.03 % regarding EEG and 91.67 % regarding face analysis meanwhile, SVM=87.49 %, DNN=88.59 %, Bi-GRU=90.02 %, LSTM=87.49 % and CNN=82.02 %. CONCLUSION: As a result, the suggested methodology provides encouraging outcomes and opens up possibilities for early autism detection. The development of such models is not only a technical achievement but also a step forward in providing timely interventions for individuals with ASD.

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37. Wagner L, Foster T, Bonnet K, Spitler AK, Schlundt D, Warren Z. Identifying the unique determinants influencing rural families’ engagement with an existing tele-assessment approach for autism identification: A qualitative study. Autism. 2024: 13623613241307078.

It is often difficult for families in rural communities to access autism evaluations for their children when they have concerns. Tele-assessment could make it easier for them to see specialists who give autism diagnoses, but we still need to figure out the best way to carry out these approaches. To understand how rural families view tele-assessment, as well as barriers they may face, we held focus groups with caregivers of children with autism and local service providers in the Southeastern United States. We met with 22 caregivers and 10 providers. We analyzed the discussions and found four key attitudes: (1) questions about whether autism assessment can really be done online; (2) level of trust in the evaluation process, especially tele-assessment; (3) beliefs about whether tele-assessment is practical for families; and (4) worries about privacy. These attitudes and beliefs are shaped by various factors at different stages, indicating that we need to improve tele-assessment by better supporting everyone involved at different stages of the tele-assessment process. This research highlights important areas for improvement to provide fair access to tele-assessment for rural families (e.g. creating education materials, conducting barrier counseling).

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38. Wong CM, Tan CS, Koh HC, Gan X, Hie SL, Saffari SE, Yeo JG, Lam JCM. Folinic acid as a treatment for autism in children: A within-subjects open-label study on safety and efficacy. Int J Dev Neurosci. 2025; 85(1): e10402.

The folate cycle has been implicated in the pathophysiology of autism due to its role in the glutathione oxidative stress pathway, amino acid and DNA methylation reactions, and neurotransmitter synthesis pathway. Previous research on folinic acid supplementation in autistic children has suggested potential benefits. The primary aim of this pilot study was to determine the safety, feasibility and efficacy of oral folinic acid in improving communication and behaviour in autistic children. Ten autistic children were recruited into an open-label pre-post treatment within-subjects design study. At T = 0, 12 and 24 weeks, participants underwent safety evaluations, standardized assessments of language, autism symptoms, adaptive skills and global illness severity, and eye-gaze tracking. During the control period (0-12 weeks), participants continued with standard care. In the treatment period (12-24 weeks), participants took oral folinic acid at 2 mg/kg/day. All 10 children (nine boys, one girl; aged 4-8 years), successfully consumed oral folinic acid supplements with no adverse events. There was a reduction in Pervasive Developmental Disorder Behavior Inventory (PDDBI) Autism Composite T-score with treatment (mean [SD] T-score 49.2 [8.89] pre-treatment, 44.6 [6.19] post-treatment, p = 0.103). Although this difference was not statistically significant due to the small sample size, the effect size was medium-large, indicating that, as a group, there were clinically meaningful changes in PDDBI T-scores. There were also trends towards gains in communication scores and overall Clinical Global Impression scores. Folinic acid is a safe and feasible potential treatment for autism, and results from this pilot justify the need for a larger placebo-controlled trial.

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39. Xiao Y, Xiang W, Ma X, Zheng A, Rong D, Zhang N, Yang N, Bayram H, Lorimer GH, Wang J. Research Progress on the Correlation Between Atmospheric Particulate Matter and Autism. J Appl Toxicol. 2024.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder caused by the interaction of genetic and complex environmental factors. The prevalence of autism has dramatically increased in countries and regions undergoing rapid industrialization and urbanization. Recent studies have shown that particulate matter (PM) in air pollution affects the development of neurons and disrupts the function of the nervous system, leading to behavioral and cognitive problems and increasing the risk of ASD. However, research on the mechanism of environmental factors and ASD is still in its infancy. On this basis, we conducted a literature search and analysis to review epidemiological studies on the correlation between fine particulate matter (PM(2.5)) and inhalable particulate matter (PM(10)) and ASD. The signaling pathways and pathogenic mechanisms of PM in synaptic injury and neuroinflammation are presented, and the mechanism of the ASD candidate gene SHANK3 was reviewed. Additionally, the different sites of action of different particles in animal models and humans were highlighted, and the differences of their effects on the pathogenesis of ASD were explained. We summarized the aetiology and mechanisms of PM-induced autism and look forward to future research breakthroughs in improved assessment methods, multidisciplinary alliances and high-tech innovations.

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40. Yang K, Li T, Geng Y, Zhang R, Xu Z, Wu J, Yuan Y, Zhang Y, Qiu Z, Li F. Protocol for the neonatal intracerebroventricular delivery of adeno-associated viral vectors for brain restoration of MECP2 for Rett syndrome. STAR Protoc. 2024; 5(4): 103344.

Here, we present a protocol for neonatal intracerebroventricular (ICV) delivery of adeno-associated viral vectors (AAVs), achieving gene therapy for a Rett syndrome mouse model. We describe steps for preparing mouse lines, replacing foster mothers, sex typing, and genotyping. We then detail procedures for ICV delivery and validation through immunofluorescent and immunoblot techniques. This protocol is also applicable to preclinical gene therapy research that targets the neonatal mouse brain for other neurodevelopmental disorders. For complete details on the use and execution of this protocol, please refer to Yang et al.(1).

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