1. Correction to ‘Changes in neuroinflammatory markers and microglial density in the hippocampus and prefrontal cortex of the C58/J mouse model of autism’. Eur J Neurosci;2024 (Nov 19)

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2. Abouzed M, Gabr A, Elag KA, Soliman M, Elsaadouni N, Elzahab NA, Barakat M, Elsherbiny A. The prevalence, correlates, and clinical implications of hoarding behaviors in high-functioning autism. Sci Rep;2024 (Nov 18);14(1):28471.

This study aimed to investigate the relationships between hoarding behaviors, autism characteristics, and demographic factors in adults diagnosed with high-functioning ASD (Autism Spectrum Disorder). A total of 112 adults, aged 18-35, with high-functioning ASD completed self-reported assessments on hoarding (Savings Inventory-Revised; SI-R) and autism traits (Autism-Spectrum Quotient; AQ). Additionally, demographic data was gathered. Correlation and regression analyses were performed. The findings revealed positive correlations between hoarding and overall autism traits. Autism quotient scores accounted for 24% of the variance in hoarding inventory scores. Higher AQ scores were associated with increased SI-R scores. Specific AQ subscales were linked to particular SI-R subscales. Gender, age, education level, and employment status were connected to assessment scores. A multiple regression analysis revealed that demographic variables accounted for 19% of the variance in hoarding severity. Gender was found to moderate the impact of age on hoarding behaviors. Significant associations were identified between hoarding tendencies and autism traits in adults with ASD. Demographic variables also played a role in symptom presentation. These findings shed light on the relationship between autism characteristics and hoarding behaviors, as well as how external factors influence them. Further research is necessary to enhance understanding and guide interventions for hoarding in ASD populations.

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3. Arendt Langhoff A, Søeborg Nyhus A, Hansen ES, Kruse Ifversen F, Kromann Kristiansen SM, Toftgaard Henriksen S, Adjorlu A. VR Dialogues: Enhancing Communication Between Autistic Individuals and Their Special Education Teachers Through Virtual Activities. Stud Health Technol Inform;2024 (Nov 18);320:485-492.

This paper explores the potential of a Virtual Reality (VR) intervention to facilitate communication about sensitive topics between adolescents with Autism Spectrum Disorder and their special education teachers. The VR intervention was developed in collaboration with Special education teachers, incorporating feedback from a design workshop to create a VR application featuring activities like basketball, air hockey, drawing, and avatar customization. The VR application was evaluated through two sessions between one autistic adolescent and a special education teacher at a residential home for autistic adolescents. The results indicate that VR has the potential to be used as a space for sensitive conversation between autistic individuals and their special education teachers.

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4. Baker P, Chishty-Collins J, Gore N. A Systematic Review of Burnout Among Staff Working in Services for Adults With Intellectual and Developmental Disabilities. J Appl Res Intellect Disabil;2025 (Jan);38(1):e13325.

BACKGROUND: The psychological wellbeing of staff who provide support to people with intellectual and developmental disabilities is one of the crucial factors in determining the quality of provision offered. An understanding of the current status and influencing variables of staff psychological wellbeing is considered to be vital in this respect. METHOD: A systematic review of all studies involving staff working with people with intellectual disabilities using the Maslach Burnout Inventory Human Services Version (MBI-HS) published from May 2004 up to and including April 2024 was conducted. RESULTS: Twenty-one studies were found which allowed updated norms and comparisons with previously published norms (Skirrow and Hatton, Journal of Applied Research in Intellectual Disabilities 2007; 20(2):131-144) and normative scores from staff working in human services. Scores indicated significantly lower levels of Emotional Exhaustion and Depersonalisation and less Personal Accomplishment compared to norms for people working in human services. The positive trend in improving burnout scores previously reported by Skirrow and Hatton (Journal of Applied Research in Intellectual Disabilities 2007; 20(2):131-144) had not continued. CONCLUSIONS: A ‘National Observatory’ approach is recommended to enable regular monitoring of staff wellbeing and exploration of influencing variables.

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5. Bastan E, McGuinness R, Beck SR, Surtees AD. Reasoning in social versus non-social domains and its relation to autistic traits. Q J Exp Psychol (Hove);2024 (Nov 19):17470218241296090.

Enhanced rationality has been linked to higher levels of autistic traits, characterised by increased deliberation and decreased intuition, alongside reduced susceptibility to common reasoning biases. However, it is unclear whether this is domain-specific or domain-general. We aimed to explore whether reasoning tendencies differ across social and non-social domains in relation to autistic traits. We conducted two experiments (N(1) = 72, N(2) = 217) using a reasoning task with social and non-social scenario comparisons to evaluate the specific information participants used when making judgments about children, in the social domain, and objects, in the non-social domain. We consistently found a greater reliance on behaviour-based information in the non-social domain, compared to the social domain, indicating a more deliberative approach. In Experiment 1, we found a correlation between autistic traits and the proportion of behaviour-based information, suggesting a more deliberative approach, when making judgments about children, and not about objects. In Experiment 2, with a larger sample, shortened version of the reasoning task, and requests for written justification, we did not identify a significant correlation between these variables. With this study, we introduce a novel scenario-based reasoning task that systematically compares the social and non-social domains. Our findings highlight the complex nature of the relationship between reasoning style and autistic traits.

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6. Çelikkol Sadiç Ç. An examination of levels of depression, the probability of suicide, and autistic traits in medical faculty students: A cross-sectional study. Medicine (Baltimore);2024 (Nov 15);103(46):e40607.

Depression and suicide attempts are reported to be high among medical students. It has also been reported that depression, suicide attempts, and autistic traits may be significantly related. The aim of this study was to determine the suicide probability and autistic traits of medical students with and without depression symptoms, and to examine the relationship between depression symptoms, suicide probability, and autistic traits together in these students. This cross-sectional study was conducted among 313 medical students, 206 female, and 107 male, who, according to the sociodemographic form, did not have any current psychiatric diagnosis, chronic medical or neurological disorders requiring treatment, or regular use of psychotropic medications, and who completed the forms in full. All the study participants completed a sociodemographic form, the Beck depression inventory (BDI), the suicide probability scale (SPS), and the autism spectrum quotient (ASQ).The entire study sample was divided into 2 groups: students with and without symptoms of depression, based on BDI scores. In the multivariate analysis, independent predictors of depression symptoms were examined using logistic regression analysis. The BDI total points (z = -13.99, P < .001), SPS total points (z = 10.61, P < .001), and subscale points of hopelessness (z = -9.28, P < .001), suicidal ideation (z = 8.48, P < .001), negative self-evaluation (z = -9.26, P < .001), and hostility (z = -8.10, P < .001), and the ASQ subscale points of communication (z = -5.05, P < .001), social skills (z = -6.05, P < .001), imagination (z = -3.27, P = .001), attention shifting (z = -4.35, P < .001), and ASQ total points (z = -6.64, P < .001) were significantly higher for the participants with BDI total points above the cutoff value compared to those with BDI total points below the cutoff value. Statistically significant positive correlations were found between BDI total points and SPS total points (R = 0.710, P < .001), ASQ total points (R = 0.451, P < .001), and between ASQ total points and SPS total points (R = 0.534, P < .001). The contribution of age, gender, ASQ, and SPS total points to explaining depression symptoms was evaluated using logistic regression analysis. This analysis showed that the SPS total points could be a significant predictor of depression symptoms (B = 0.112, P < .001). The findings of this study showed that the probability of suicide and the ASQ total and subscale points of communication, social skills, imagination, and attention shifting were significantly higher in medical students with symptoms of depression compared to those without depressive symptoms. Given the important relationship between symptoms of depression, suicidality, and autistic traits, it is crucial to raise awareness of these issues among medical education departments, health practitioners, medical students, and to provide the necessary guidance and clinical support for medical students to address these problems.

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7. Gao H, Zhang C, Zhu B, Geng M, Tong J, Zhan Z, Zhang Y, Wu D, Huang K, Tao F. Associating prenatal phthalate exposure with childhood autistic traits: Investigating potential adverse outcome pathways and the modifying effects of maternal vitamin D. Eco Environ Health;2024 (Dec);3(4):425-435.

The association between prenatal phthalate mixture exposure and the risk of autism spectrum disorder (ASD) in children, as well as the potential mechanism and impact of maternal vitamin D, remains unclear. We analyzed data from 3209 mother-child pairs. The associations between prenatal phthalate exposure and autistic traits in children aged 1.5, 3, 5, and 6 years were explored. Furthermore, the modifying effects of maternal vitamin D and the adverse outcome pathway, which elucidates the contribution of phthalates to ASD, were estimated. Exposure to a phthalate mixture was associated with an increased risk of ASD in children aged 1.5-6 years. For mothers with 25(OH)D deficiency, an exposure‒response relationship was observed between phthalate mixtures in early to mid-pregnancy and autistic traits in children aged 3 years. However, this association was not observed for mothers with sufficient prenatal 25(OH)D levels. The potential mechanism of action of di(2-ethylhexyl) phthalate (DEHP) exposure may involve affecting GRIN2B, inhibiting NMDAR in the postsynaptic membrane, disrupting synaptic function, and impairing learning and memory, ultimately leading to ASD development. Importantly, maternal vitamin D supplementation was demonstrated to mitigate the risk of ASD associated with phthalate exposure. Reducing phthalate exposure during pregnancy may be associated with a decreased risk of autistic traits in children. Furthermore, adequate vitamin D supplementation could potentially mitigate the impact of phthalates on these traits. Additionally, the proposed biological mechanism provides insight into how phthalate exposure may contribute to the development of ASD.

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8. Harvey A, Spicer-Cain H, Botting N, Henry L. Narrative abilities of autistic and non-autistic adolescents: The role of mentalising and executive function. Autism Res;2024 (Nov 19)

Spoken narrative skills are important for adolescents in their everyday lives. Previous research suggests that producing well-structured and coherent narratives may be challenging for autistic young people. Mentalising, also known as « advanced Theory of Mind » (ToM) and « Executive Function » (EF) are two cognitive abilities frequently explored in relation to autism, both of which may be implicated in narrative ability. The present study investigated these relationships in a group of autistic adolescents (N = 44) aged 11-15 years and a comparable non-autistic group (N = 54) that did not significantly differ on age, sex, nonverbal cognitive ability, or receptive/expressive language skills. Participants were assessed on a video-based spoken narrative task, scored for both overall structure (« story grammar ») and narrative coherence. A battery of tasks measuring mentalising and EF (working memory, inhibition, shifting, generativity) was also administered. Relationships between scores on cognitive measures and narrative performance were investigated using hierarchical linear regression analyses. Mentalising scores were found to significantly predict narrative performance across all outcome measures and were a stronger predictor than diagnostic group. Diagnostic group predicted narrative structure (« story grammar ») scores but not coherence scores. EF scores were not predictive of narrative ability in this sample. Mentalising skills appear to play an important role for both autistic and non-autistic adolescents in the generation of narrative structure and coherence within spoken accounts.

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9. Hu C, Li J, Heng P, Luo J. Mitochondrial related Mendelian randomization identifies causal associations between metabolic disorders and childhood neurodevelopmental disorders. Medicine (Baltimore);2024 (Nov 15);103(46):e40481.

Childhood neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD), attention-deficit hyperactivity disorder, and Tourette syndrome, are a predominant cause of health-related disabilities in children and adolescents. Nevertheless, disease biomarkers are still limited. The aim of this study was to evaluate the potential, causal relationship between mitochondrial DNA copy number (mtDNA-CN), metabolic disorders, and childhood NDDs using the two-sample Mendelian randomization (MR) method. Genetic associations with mtDNA-CN, disorders of lipoprotein metabolism, and disorders of iron metabolism were selected as exposures, and genome-wide association data from ASD, attention-deficit hyperactivity disorder, and Tourette syndrome were utilized as outcomes. Results of the study suggested that a high degree of disordered lipoprotein metabolism related increases in ASD risk result from a decrease in mtDNA-CN (disordered lipoprotein metabolism-mtDNA: inverse variance weighting β: -0.03, 95% confidence interval: -0.05 to -0.02, P = 2.08 × 10-5; mtDNA-CN-ASD: inverse variance weighting odds ratio: 0.83, 95% confidence interval: 0.69-0.99, P = .034). The research findings implied that mtDNA-CN can mediate disorders of lipoprotein metabolism, potentially influencing the development of ASD. The potential impact of the results of this study for the prevention and treatment of childhood NDDs warrants validation in robust randomized clinical trials.

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10. Koltai BG, Pados E, Rácz J. Unveiling missing voices – Lifelong Experiences of fathers parenting autistic sons: An interpretative phenomenological analysis. Autism;2024 (Nov 19):13623613241290096.

Being a father of an autistic son is a profound and complex experience. Fathers adapt to their autistic sons’ unique needs and are always in search of services to ease uncertainties about their sons’ present and future. We interviewed 10 Hungarian fathers who have adult-aged autistic children. We asked them about their experiences raising their autistic sons during childhood and adulthood. Our study focused on fathers of adult-aged sons because most research has studied mothers’ experiences of autistic children under 18 years old. It is also essential to know how to be like a father with adult-aged autistic children. Fathers shared their ongoing struggle with uncertainty, always seeking the best possible solutions for their sons. They also talked about how they understand and adapt to autism and accept their sons with their special, autism-related characteristics. The findings of this research provide a deeper understanding of fathers’ parenting experience, giving suggestions for professionals on supporting them and making their experiences valuable to the community of parents raising autistic children.

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11. Kumar A, Kumar A, Jayakody DNK. Ambiguous facial expression detection for Autism Screening using enhanced YOLOv7-tiny model. Sci Rep;2024 (Nov 18);14(1):28501.

Autism spectrum disorder is a developmental condition that affects the social and behavioral abilities of growing children. Early detection of autism spectrum disorder can help children to improve their cognitive abilities and quality of life. The research in the area of autism spectrum disorder reports that it can be detected from cognitive tests and physical activities of children. The present research reports on the detection of autism spectrum disorder from the facial attributes of children. Children with autism spectrum disorder show ambiguous facial expressions which are different from the facial attributes of normal children. To detect autism spectrum disorder from facial images, this work presents an improvised variant of the YOLOv7-tiny model. The presented model is developed by integrating a pyramid of dilated convolutional layers in the feature extraction network of the YOLOv7-tiny model. Further, its recognition abilities are enhanced by incorporating an additional YOLO detection head. The developed model can detect faces with the presence of autism features by drawing bounding boxes and confidence scores. The entire work has been carried out on a self-annotated autism face dataset. The developed model achieved a mAP value of 79.56% which was better than the baseline YOLOv7-tiny and state-of-the-art YOLOv8 Small model.

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12. Lei J, Mason C, Russell A, Hollocks MJ, Leigh E. Understanding Mechanisms that Maintain Social Anxiety Disorder in Autistic Individuals Through the Clark and Wells (1995) Model and Beyond: A Systematic Review. Clin Child Fam Psychol Rev;2024 (Nov 19)

Given the high co-occurrence of social anxiety in autism, no reviews to date have explored how cognitive and behavioural mechanisms identified to maintain social anxiety in non-autistic individuals may operate in autistic individuals. This systematic review evaluated: (1) empirical evidence underlying the Clark and Wells (1995) Cognitive Model of Social Anxiety in autistic individuals; (2) how vulnerability factors identified from autism literature (beyond core autistic traits) may be associated with social anxiety beyond the cognitive model. Published peer-reviewed English articles until 27th November 2023 were retrieved from PubMed, EMBASE, Ovid MEDLINE and PsycINFO. Quality appraisal and risk of bias were assessed using The Standard Quality Assessment Criteria for Evaluating Primary Research papers from a Variety of Fields tool. 47 articles met full inclusion criteria and included autistic individuals (with clinical diagnosis), a measure of social anxiety, and a mechanism outlined by either (or both) research questions. The majority of the 3340 participants across studies were male without intellectual disability, White/Caucasian, with 7 studies reporting an average age above 30 years old. Most studies used only self-report measures that may have inflated associations observed between social anxiety and mechanisms. All studies employed cross-sectional design, and no causality inferences could be drawn. Methodological issues around potential construct overlaps between social anxiety and autistic traits are highlighted. Overall, there is evidence in support of the as reported by Clark and Well (in: Heimberg (eds), A cognitive model of social phobia, The Guilford Press, 1995) model, as greater fear of negative evaluation from others, use of safety behaviours and somatic symptoms, and peer victimisation were associated with greater social anxiety. The review contributes evidence in support of autism specific contextual, predisposing/antecedent and maintenance factors of social anxiety beyond the original Clark and Well (in: Heimberg (eds), A cognitive model of social phobia, The Guilford Press, 1995) model. Given the potential for considerable heterogeneity for each highlighted process at an individual level across autistic individuals, clinicians can broaden formulation conversations with autistic clients to understand how autism related factors may influence the development and maintenance of social anxiety symptoms when applying and adapting the Clark and Well (in: Heimberg (eds), A cognitive model of social phobia, The Guilford Press, 1995) model.

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13. Liu C, Zhang Q, Liu Y, Wang Z, Chen F, Li Y, Zhao Y, Zhu J, Li D, Zhu C. The Association Between Autistic Traits and Depression in College Students: The Mediating Roles of Interpersonal Emotion Regulation and Social Self-Efficacy. Psychol Res Behav Manag;2024;17:3905-3917.

PURPOSE: Higher rates of depression are associated with autistic traits; however, the precise association between autistic traits and depression has yet to be fully elucidated. Good interpersonal emotional regulation and social self-efficacy are crucial for mental health; therefore, in this study, we investigated the relationships between autistic traits, interpersonal emotional regulation, social self-efficacy, and depression. PATIENTS AND METHODS: In total, 1024 participants (613 females and 411 males) aged 16 to 23 years old (M = 19.03, SD = 0.95) completed questionnaires that were designed to evaluate their autistic traits, interpersonal emotion regulation, social self-efficacy and depression. Data were analyzed by Spearman correlation and mediation effects analyses. RESULTS: Autistic traits were significantly and positively correlated with depression (r = 0.39, p < 0.001), and autistic traits were shown to positively predict depression (B = 0.28, p < 0.001). Interpersonal emotion regulation and social self-efficacy were found to play a serial mediating role between autistic traits and depression (indirect effect = 0.020, p = 0.006). CONCLUSION: This study is a supplement to the mechanism of the relationship between autistic traits and depression. Interpersonal emotion regulation and social self-efficacy are important predictors of possible depression in individuals with high autistic traits. These findings suggest combining interpersonal emotional regulation training and exploring the clinical value of interpersonal emotional regulation interventions in individuals with high autistic traits and autism spectrum disorder, aiming to build social confidence, reduce negative moods, restore social functioning, and other aspects.

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14. Matsumoto N, Mitsui T, Kadowaki T, Mitsuhashi T, Hirota T, Masuyama H, Yorifuji T. In vitro fertilization and long-term child health and development: nationwide birth cohort study in Japan. Eur J Pediatr;2024 (Nov 18);184(1):24.

The aim of this study is to compare long-term health outcomes between IVF-conceived children and non-IVF-conceived children in Japan, in the context of strong recommendation for single embryo transfer. Using data from a nationwide birth cohort linked with perinatal database, this study analyzed 2140 children born in Japan in May 2010. It compared child health and development outcomes up to 9 years of age between IVF-conceived and non-IVF-conceived children (binary exposure). A Poisson regression with robust variance to estimate the risk ratios for the association between IVF and various long-term child health and developmental outcomes. After adjusting for confounding factors, no significant differences were observed between IVF-conceived and naturally conceived children for most outcomes, including hospitalization, obesity, and developmental milestones. IVF-conceived children showed a slightly lower risk of attention problems at 8 years (adjusted Risk Ratio [aRR]: 0.73, 95% CI: 0.53-1.00). In subgroup analyses, IVF-conceived term children and singletons demonstrated reduced risk of cognitive delays at 5.5 years (aRR: 0.31, 95% CI: 0.10-0.96 and aRR: 0.37, 95% CI: 0.14-0.98, respectively).Conclusion: In this Japanese cohort, IVF conception was not associated with adverse long-term health or developmental outcomes. These findings provide reassurance about the safety of IVF, particularly in the context of single embryo transfer policies. Further research is needed to explore specific IVF protocols and subgroups.

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15. Mehta V, Tripathy S, Merchant Y, Mathur A, Negi S, Shamim MA, Abullais SS, Al-Qarni MA, Karobari MI. Oral health status of children with intellectual and developmental disabilities in India: a systematic review and meta-analysis. BMC Pediatr;2024 (Nov 18);24(1):748.

INTRODUCTION: India has committed to the Sustainable Development Goals (SDGs) 2030 principle of « Leave No One Behind », which seeks to reduce disparities and vulnerabilities. The dearth of data on the oral health conditions of children with intellectual and developmental (IDD) disabilities in India is significant. Our systematic review intended to collate and synthesise data on the oral health status of children with IDD. METHODS: Online electronic databases such as PubMed-MEDLINE, Embase, and Scopus were searched using appropriate keywords from the earliest available data until 31st March 2024, with no language restriction. Cross-sectional studies conducted amongst individuals below 18 years of age with intellectual, or developmental disabilities, in India were included. Quality assessment and meta-analysis using a random-effects model for variables reported from four or more studies and a prediction interval was calculated. RESULTS: Out of 2388 studies, a total of 15 studies were included. Our study showed that 91% (95% [confidence interval] CI: 0.80-0.96) of IDD children use toothbrushes regularly. However, poor oral hygiene was found among 38% (95% CI = 0.21-0.59) of IDD children. The pooled prevalence of dental caries among children was found to be 64% (95% CI: 0.45-0.79). Periodontal disease was reported in only one study among 54.20% of IDD children. CONCLUSIONS: Our findings suggest that despite brushing regularly the incidence of caries and poor oral hygiene in children with IDD is high. Flexible, tailored interventions that go beyond a uniform approach must be implemented to effectively address oral health requirements of children with IDD. Specific Health Programmes should be established for their preventive oral care.

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16. Miozzo F, Murru L, Maiellano G, di Iasio I, Zippo AG, Zambrano Avendano A, Metodieva VD, Riccardi S, D’Aliberti D, Spinelli S, Canu T, Chaabane L, Hirano S, Kas MJH, Francolini M, Piazza R, Moretto E, Passafaro M. Disruption of the autism-associated Pcdh9 gene leads to transcriptional alterations, synapse overgrowth, and defective network activity in the CA1. J Neurosci;2024 (Nov 18)

Protocadherins, a family of adhesion molecules with crucial role in cell-cell interactions, have emerged as key players in neurodevelopmental and psychiatric disorders. In particular, growing evidence links genetic alterations in Protocadherin 9 (PCDH9) gene with Autism Spectrum Disorder (ASD) and Major Depressive Disorder (MDD). Furthermore, Pcdh9 deletion induces neuronal defects in the mouse somatosensory cortex, accompanied by sensorimotor and memory impairment. However, the synaptic and molecular mechanisms of PCDH9 in the brain remain largely unknown, particularly concerning its impact on brain pathology. To address this question, we conducted a comprehensive investigation of PCDH9 role in the male mouse hippocampus at the ultrastructural, biochemical, transcriptomic, electrophysiological and network level. We show that PCDH9 mainly localizes at glutamatergic synapses and its expression peaks in the first week after birth, a crucial time window for synaptogenesis. Strikingly, Pcdh9 KO neurons exhibit oversized presynaptic terminal and postsynaptic density (PSD) in the CA1. Synapse overgrowth is sustained by the widespread up-regulation of synaptic genes, as revealed by single-nucleus RNA-seq (snRNA-seq), and the dysregulation of key drivers of synapse morphogenesis, including the SHANK2/CORTACTIN pathway. At the functional level, these structural and transcriptional abnormalities result into increased excitatory postsynaptic currents (mEPSC) and reduced network activity in the CA1 of Pcdh9 KO mice. In conclusion, our work uncovers Pcdh9 pivotal role in shaping the morphology and function of CA1 excitatory synapses, thereby modulating glutamatergic transmission within hippocampal circuits.Significance statement Converging evidence indicates that genetic alterations in Protocadherin 9 (PCDH9) gene are associated with Autism Spectrum Disorder (ASD) and Major Depressive Disorder (MDD). However, our understanding of PCDH9 physiological role and molecular mechanisms in the brain, as well as its connection to synaptic dysfunction and brain pathology, remains limited. Here we demonstrate that Pcdh9 regulates the transcriptional profile, morphology and function of glutamatergic synapses in the CA1, thereby tuning hippocampal network activity. Our results elucidate the molecular and synaptic mechanisms of a gene implicated in neurodevelopmental and psychiatric disorders, and suggest potential hippocampal alterations contributing to the cognitive deficits associated with these conditions.

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17. Nozari A, Babaahmadi P, Jalilian N, Sadeghi T, Hasani M. Introducing a novel TRAPPC10 gene variant as a potential cause of developmental delay and intellectual disability in an Iranian family. Neurogenetics;2024 (Nov 19);26(1):1.

BACKGROUND: TRAPP complexes are crucial components for intracellular transport and cellular organization. Their role in vesicle trafficking, particularly through their involvement in the secretory pathway, make them more important in neurodevelopmental mechanisms. This study aims to identify a novel genetic variant, associated with developmental delay and intellectual disability by analyzing a consanguineous Iranian family. MATERIALS AND METHODS: Here, we performed whole-exome sequencing on an Iranian family, originating from a small population. The patient presented with severe developmental delay, microcephaly, and behavioral abnormalities. Through our analysis, we discovered a new biallelic variant on a previously introduced gene: TRAPPC10 (NM_003274.5): c.3222 C > A; p.(Cys1074Ter) that is a potential cause for these specific clinical characteristics. RESULTS: Previous functional analysis suggest that the mutation causes premature termination of protein translation, likely leading to nonsense-mediated decay because of biallelic loss of functional TRAPPC10 protein which leads to severe developmental delay, microcephaly, and behavioral abnormalities such as aggression and autistic traits. CONCLUSION: The aim of this research is to discover a novel variant in the TRAPPC10 gene that is responsible for a particular neurodevelopmental condition, dominantly characterized by developmental delay, intellectual disability, and microcephaly. These findings advance the comprehension of TRAPP-related diseases and emphasize the need for further exploration into the impact of TRAPPC10 on the development of the nervous system.

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18. Park HW, Choi BS, Song BA, Kim JH. Impacts of Sibling Relations on Sociality, Communication, and Autism Severity in Children with Autism Spectrum Disorder: A Retrospective Analysis. Alpha Psychiatry;2024 (Aug);25(4):548-554.

OBJECTIVE: This study investigated the differences in sociality, communication, and autism severity in children with autism spectrum disorder (ASD) according to the presence or absence of siblings, the number of siblings, the order of birth, and the sex of sibling. METHODS: We included 71 children with autism spectrum disorder who visited University Hospital as outpatients. We compared the communication and socialization scores using the Korean Version of the Vineland Adaptive Behavior Scale, second edition (K-VABS II); social interaction, communication, and language using the autism diagnostic interview-revised (ADI-R); and the total score of the Korean-Childhood Autism Rating Scale 2 (K-CARS 2) according to the presence or absence of siblings, the number of siblings, the order of birth and the sex of sibling. Data were evaluated with independent t-tests and analysis of variance (ANOVA) tests. RESULTS: The patient’s average age was 48.8 ± 13.6 months. There was a significant difference in the total score of K-CARS-2 according to the sex of siblings. The male sibling group was 34.36 ± 6.11 and the female sibling group was 30.29 ± 6.41 points, respectively. CONCLUSION: This result indicates that the quality of sibling interactions in families with a child with ASD may play a significant role in reducing ASD severity and improving the quality of sibling interactions, rather than the number of siblings alone affecting the social interactions of children with ASD.

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19. Pultsina KI, Stroganova TA, Kozunova GL, Prokofyev AO, Miasnikova AS, Rytikova AM, Chernyshev BV. Atypical pupil-linked arousal induced by low-risk probabilistic choices, and intolerance of uncertainty in adults with ASD. Cogn Affect Behav Neurosci;2024 (Nov 19)

Adults with autism spectrum disorder (ASD) experience stress when operating in a probabilistic environment, even if it is familiar, but the underlying mechanisms remain unclear. Their decision-making may be affected by the uncertainty aversion implicated in ASD and associated with increased autonomic arousal. Previous studies have shown that in neurotypical (NT) people, decisions with predictably better outcomes are less stressful and elicit smaller pupil-linked arousal than those involving exploration. Here, in a sample of 46 high-functioning ASD and NT participants, using mixed-effects model analysis, we explored pupil-linked arousal and behavioral performance in a probabilistic reward learning task with a stable advantage of one choice option over the other. We found that subjects with ASD learned and preferred advantageous probabilistic choices at the same rate and to the same extent as NT participants, both in terms of choice ratio and response time. Although both groups exhibited similar predictive behaviors, learning to favor advantageous choices led to increased pupillary arousal for these choices in the ASD group, while it caused a decrease in pupillary arousal in the NT group. Moreover, greater pupil-linked arousal during decisions with higher expected value correlated with greater degree of self-reported intolerance of uncertainty in everyday life. Our results suggest that in a nonvolatile probabilistic environment, objectively good predictive abilities in people with ASD are coupled with elevated physiological stress and subjective uncertainty regarding the decisions with the best possible but still uncertain outcome that contributes to their intolerance of uncertainty.

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20. Rivera-Figueroa K, Milan S, Dumont-Mathieu T, Quinn D, Eigsti IM. Racial and ethnic group differences in service utilization in children with autism spectrum disorder: The role of parental stigma. Autism;2024 (Nov 18):13623613241298043.

Racial and ethnic disparities in service utilization in autism are widely documented. Autism-related parental stigma may play a role if parents from racial/ethnic minoritized backgrounds experience dual stigma from autism and from membership in a marginalized group. This study examines racial/ethnic differences in autism-related stigma and compares the impact of stigma on service utilization in a large, diverse sample of US-based parents of autistic children (final sample = 764; White 41.6%, Black 16.6%, Latino/a/x/Hispanic 20.9%, Asian 7.5%, Multiracial 9.6%, Native American 1.8%, Pacific Islander 0.5%, Middle Eastern 0.2%, and Other 0.2%). Parents completed online surveys assessing affiliate and community stigma, service utilization, and perceived unmet treatment needs. Small but significant racial/ethnic group differences emerged in some aspects of stigma and service utilization. Specifically, Asian and Latino/a/x parents were less likely to fully engage in recommended services; Asian parents endorsed less service availability; Latino/a/x and multiracial parents reported more unmet needs; and Asian and White parents reported significantly more affiliate stigma. There was little indication that stigma contributed to racial/ethnic differences in service utilization, except for Asian families. Results indicate that socioeconomic factors interact with race/ethnicity to impact service use and stigma.

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21. Schelinski S, Kauffmann L, Tabas A, Müller-Axt C, von Kriegstein K. Functional alterations of the magnocellular subdivision of the visual sensory thalamus in autism. Proc Natl Acad Sci U S A;2024 (Nov 19);121(47):e2413409121.

The long-standing hypothesis that autism is linked to changes in the visual magnocellular system of the human brain has never been directly examined due to technological constraints. Here, we used a recently developed 7-Tesla functional MRI (fMRI) approach to investigate this hypothesis within the visual sensory thalamus (lateral geniculate nucleus, LGN). The LGN is a crucial component of the primary visual pathway. It is particularly suited to investigate the magnocellular visual system, because within the LGN, the magnocellular (mLGN) uniquely segregates from the parvocellular (pLGN) system. Our results revealed diminished mLGN blood-oxygenation-level-dependent (BOLD) responses in the autism group compared to controls. pLGN responses were comparable across groups. The mLGN alterations were observed specifically for stimuli optimized for mLGN function, i.e., visual displays with low spatial frequency and high temporal flicker frequency. The results confirm the long-standing hypothesis of magnocellular visual system alterations in autism. They substantiate the emerging perspective that sensory processing variations are part of autism symptomatology.

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22. Tsomokos DI, Papachristou E, Rakesh D, Flouri E. Family poverty, neighbourhood greenspace and perinatal outcomes. Arch Dis Child;2024 (Nov 19);109(12):1017-1024.

OBJECTIVE: The relationship between low income and adverse perinatal outcomes, such as low birth weight and developmental delays, is well established making the search for protective factors important. One such factor may be neighbourhood greenspace. This study elucidates the role of urban neighbourhood greenspace in the relationship between income and perinatal outcomes in a nationally representative birth cohort from the UK. METHODS: Data on 14 050 infants participating in the initial wave at age 9 months of the Millennium Cohort Study were used (51% male, 20% non-white, 52% living in disadvantaged areas). We tested whether the association between income and perinatal outcomes is moderated by urban greenspace (measured in deciles) before and after adjustments for confounding. The perinatal outcomes included birth weight, gestational age (in days), communication and motor delays. The models were adjusted for the infant’s sex and ethnicity, mother’s age, education, substance use and mental health as well as area disadvantage and air pollution. RESULTS: Neighbourhood greenspace moderated the association between income and gestational age, even after adjustment for all confounders, b=-0.11, 95% CI (-0.215, -0.004). For births in low-income households, in particular, it was associated with an increase in gestational age by an average of approximately 3 days. However, after adjustment, greenspace was not found to influence birth weight, communication or motor delays at age 9 months. CONCLUSION: The biophilic design of urban environments is a modifiable factor for improving perinatal outcomes in the UK as urban greenspaces appear to be mitigating the risk of preterm birth associated with family poverty.

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23. Wu Q, Shan X, Li X, Guan J, Song F, Zhou X, Fan Y, Guo L. Salidroside Ameliorates Neuroinflammation in Autistic Rats by Inhibiting NLRP3/Caspase-1/GSDMD Signal Pathway. Brain Res Bull;2024 (Nov 16):111132.

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder that place a huge economic and emotional burden on society. Salidroside (Sal) has been reported to have therapeutic effects in a variety of neurological disorders such as Alzheimer’s disease （AD） and Parkinson’s disease (PD), however no studies have been conducted to show whether salidroside is effective in ASD. Pyroptosis is involved in the pathology of a variety of neurological disorders, but has not been reported in ASD. OBJECTIVES: The aim of this study was to investigate whether pyroptosis is involved in the pathological mechanisms of ASD, and whether salidroside has an impact on the pathological process of ASD by regulating pyroptosis. METHODS: We obtained a rat model of offspring ASD by prenatal intraperitoneal administration of valproic acid (VPA, 500mg/kg) to pregnant rats, and we treated seven-day-old offspring ASD with salidroside (Sal, 30mg/kg once daily) by gavage for 28 days as the salidroside treatment group. We examined the hippocampal state of ASD rats and the effect of salidroside on the hippocampus of VPA-induced ASD rats. In addition, in BV2 cells treated with LPS/Nig, we explored the mechanisms by which salidroside regulates neuroinflammation and pyroptosis in vitro. RESULTS: In vivo, we observed VPA-induced hippocampal neuronal damage and activation of the NLRP3/Caspase-1/GSDMD signalling pathway in ASD rats, while salidroside alleviated neuronal damage in ASD rats. In vitro, we found that salidroside inhibited LPS/Nig-induced neuroinflammation and activation of the NLRP3/Caspase-1/GSDMD signalling pathway. These results suggest that the therapeutic effect of salidroside on hippocampal damage in ASD rats may be related to NLRP3/Caspase-1/GSDMD-mediated pyroptosis. CONCLUSIONS: Our work showed that salidroside ameliorates hippocampal neurological damage in ASD rats by targeting NLRP3/Caspase-1/GSDMD-mediated pyroptosis, providing a potential therapy drug for ASD.

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24. Yan LL, Lin LY, Hu ZJ, Zhang YX, Han CX, Liu YW, Li HB. [Clinical and genetic characteristics of children with Pitt-Hopkins syndrome caused by TCF4 gene variants]. Zhonghua Yi Xue Za Zhi;2024 (Nov 19);104(43):3980-3984.

The clinical data of children with Pitt-Hopkins syndrome (PTHS) who were treated in the Affiliated Women and Children’s Hospital of Ningbo University from September 2022 to January 2024 were retrospectively included. The patients were followed up to June 2024, and their clinical and genetic characteristics were analyzed. A total of 4 children were included, 2 males and 2 females, with a diagnostic age [M (Q(1), Q(3))] of 22 (10, 32) months. All the patients presented with typical facial and overall developmental delay (developmental, motor and language delay). The 4 patients were found to harbor de novo heterozygous variants of the TCF4 gene, including the c.990G>A(p.S330S), c.1417_1418delinsT (p.Pro473ArgfsTer15), c.1028C>G (p.S343*) and c.500-2delinsTC. After 15 months of follow-up, all 4 patients received early rehabilitation treatment, and their gross motor function improved to varying degrees, while 3 patients had no improvement in language function. TCF4 gene variation in 4 children had phenotypic heterogeneity, and the main clinical manifestations were developmental delay, language development disorder and special facial features. Among the gene variation types, there was 1 case each of synonym variation, frameshift variation, nonsense variation and splicing variation.

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25. Zampella CJ, Parish-Morris J, Foy J, Cola M, Schultz RT, Herrington JD. « You should smile more »: Population-level sex differences insmiling also exist in autistic people. Autism;2024 (Nov 19):13623613241301113.

Societal expectations for social-emotional behavior differ across sexes; however, diagnostic definitions of autism do not account for this when delineating « typical » versus « atypical. » This study examines sex differences in autism in one behavior associated with strong gender biases: smiling. Computer vision was used to quantify smiling in 60 autistic (20 female) and 67 neurotypical (25 female) youth during conversations. Effects of sex and diagnosis were examined on degree of smiling, smile prototypicality, changes in smiling, and impact of smiling on interaction quality. Sex differences in smiling persisted across diagnosis groups: females smiled more than males, and their smiles were more prototypical. Autistic youth smiled less, and less prototypically, than neurotypical youth, with no sex by diagnosis interactions. In autism, the association between smile activity and interaction quality approached statistical significance, seemingly driven by autistic males but not females. Findings are consistent with population trends for females to smile more during social exchanges and « display rules » requiring more positive expressivity from females. Autism has historically been defined based on differences between autistic and neurotypical males. Failure to acknowledge sex-based differences in social-emotional behavior may leave some females appearing to have fewer autistic traits, increasing their risk of being under-identified and misunderstood. This study uses automated computerized methods to measure facial expression, namely smiling, in autistic and neurotypical males and females as they converse naturally with an unfamiliar social partner. Results show that typical population-level sex differences in smiling also exist in autistic youth; females smile more and more prototypically than males. Failure to acknowledge these sex-based differences in social-emotional norms and behavior may leave autistic females at increased risk for being misdiagnosed and misunderstood. eng

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