1. Califano M, Pruccoli J, Martucci M, Visconti C, Barasciutti E, Sogos C, Parmeggiani A. Autism Spectrum Disorder Traits Predict Interoceptive Deficits and Eating Disorder Symptomatology in Children and Adolescents with Anorexia Nervosa-A Cross-Sectional Analysis: Italian Preliminary Data. Pediatr Rep. 2024; 16(4): 1077-88.

BACKGROUND: Anorexia Nervosa (AN) is a severe Feeding and Eating Disorder (FED) that is more prevalent in females, often manifesting during adolescence. Recent research highlights an elevated presence of comorbid Autism Spectrum Disorder (ASD) traits among individuals with AN, with specific expressions in females accounting for sensorial and interoceptive experiences. This study retrospectively explores the association between ASD traits, eating symptomatology, and interoceptive deficits in Italian female adolescents with AN. METHODS: A retrospective evaluation of female AN/Atypical AN patients (n = 52) aged 13-17 years was conducted at two university pediatric hospitals in Italy. The participants underwent neuropsychiatric assessments, including the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2), and measurement of ASD traits with the Autism-spectrum quotient (AQ), camouflaging ASD traits Questionnaire (CAT-Q), Toronto Alexithymia Scale (TAS-20), and FED-symptomatology-related measures. RESULTS: Overall, 9.6% of the participants exhibited an ADOS-2 clinical impression consistent with ASD. Higher scores in AQ and CAT-Q revealed ASD traits and camouflaging strategies. The interoceptive deficits positively correlated with the ASD traits, alexithymia, and camouflage, and TAS-Difficulty Identifying Feelings emerged as the sole predictor for interoceptive deficits. DISCUSSION: This Italian study preliminarily underscores the importance of recognizing ASD traits in the AN population, emphasizing early intervention strategies. The intersection of alexithymia and interoceptive deficits emerges as a crucial nexus between ASD and AN, with potential therapeutic implications.

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2. Carpita B, Nardi B, Giovannoni F, Parri F, Cerofolini G, Bonelli C, Amatori G, Massimetti G, Cremone IM, Pini S, Pellecchia E, Dell’Osso L. Exploring the relationship among hikikomori tendencies, autistic traits, computer game use and eating disorder symptoms. CNS Spectr. 2024: 1-12.

OBJECTIVE: The hikikomori phenomenon has recently gained growing global interest, and evidences of its association with other psychopathological dimensions are slowly but steadily emerging. We aimed to evaluate the presence and correlates of hikikomori tendencies in an Italian University population, focusing on its relationships with autism spectrum, pathological computer gaming, and eating disorders. In particular, to our knowledge, no study has yet systematically evaluated the latter association, using psychometric instruments tailored to assess eating disorder symptoms. METHODS: 2574 students were recruited via an online survey. All participants were assessed with the Hikikomori Questionnaire-25 (HQ-25), the Adult Autism Subthreshold Spectrum Questionnaire (AdAS Spectrum), the Eating Attitude test-26 (EAT-26), and the Assessment of Internet and Computer Game Addiction (AICA-S). RESULTS: The results outlined how hikikomori risk was significantly correlated to autistic dimensions, altered eating behaviors, and videogame addiction. The closest relationship was detected with the autism spectrum. Interestingly, pathological computer gaming, most autistic dimensions, and EAT-26 oral control emerged as significant predictors of a greater risk for hikikomori, while the proneness to inflexibility and adherence to routine emerged as negative predictors. CONCLUSIONS: Our findings support the association among hikikomori, autism spectrum, pathological computer game use, and eating disorder symptoms.

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3. Chaidi I, Pergantis P, Drigas A, Karagiannidis C. Gaming Platforms for People with ASD. J Intell. 2024; 12(12).

Autism spectrum disorder (ASD) has a significant impact on a person’s social, emotional, and communication functioning. According to research, individualized instruction can significantly improve these deficits. One of the most successful methods of achieving this outcome is by gaming platforms that provide serious games (SGs). This article is a systematic review study using the PRISMA diagram that delves into current research on the characteristics and design criteria of serious gaming platforms suitable for people with autism, presenting the benefits of using serious gaming platforms and highlighting the importance of differentiated strategy and planning, as well as disadvantages such as financial cost and complexity. According to the conclusions of this analysis, the bulk of these programs focus on prototyping and strengthening social and emotional abilities. It is also emphasized that platforms aiming at a bigger audience of persons with ASD, as well as a larger sample size, are required.

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4. Ferrara R, Campagna G, Ricci P, Damato F, Ricci L, Iovino L, Marti F, Latina R, Simeoli R. Developmental Psychology and Healthcare Professions: Autism Knowledge Among Nurses: An Observational Study. Clin Pract. 2024; 14(6): 2693-704.

Background: One of the biggest limitations faced by autistic people is the lack of knowledge of their condition. Our study aims to evaluate and discuss the knowledge of autism among nurses, which is a social and health category often in close contact with autistic people. Objective: Given the limited exploration of awareness levels about autism among healthcare professionals, this study aims to investigate general and specific knowledge of autism within a group of nursing students enrolled in a master’s degree. Methods: A total of 66 nurses completed the questionnaire. Descriptive analyses were conducted on the results for the four subcomponents of the questionnaire: (i) general knowledge, (ii) symptomatology, (iii) screening and diagnosis, and (iv) intervention and treatment. A correlation analysis was performed between the participants’ demographic variables and questionnaire scores. Additionally, a multivariable logistic regression was conducted to analyze the association between the participants’ basic demographic characteristics and questionnaire scores. Results: Results showed a good percentage of correct answers in the « general knowledge » category. Furthermore, a good level of knowledge regarding the fact that ASD is a developmental disorder and a congenital disease also emerged. Conclusions: Regarding the knowledge of typical autism symptoms, participants answered most of the questions correctly. Correct answers decreased for questions related to screening and diagnosis. In particular, participants had limited knowledge of the DSM-5 and the timing of ASD diagnosis. Similar levels of knowledge were observed for the fourth category, « intervention and treatment ».

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5. Gogate A, Kaur K, Khalil R, Bashtawi M, Morris MA, Goodspeed K, Evans P, Chahrour MH. Author Correction: The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort. NPJ Genom Med. 2024; 9(1): 72.

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6. Gong H, Lu Y, Deng SL, Lv KY, Luo J, Luo Y, Du ZL, Wu LF, Liu TY, Wang XQ, Zhao JH, Wang L, Xia ML, Zhu DM, Wang LW, Fan XT. Targeting S100A9 attenuates social dysfunction by modulating neuroinflammation and myelination in a mouse model of autism. Pharmacol Res. 2024: 107568.

Growing evidence supports a role for dysregulated neuroinflammation in autism. However, the underlying mechanisms of microglia-evoked neuroinflammation in the development of autistic phenotypes have not been elucidated. This study aimed to investigate the role and underlying mechanisms of microglial S100 calcium-binding protein A9 (S100A9) in autistic phenotypes. We utilized the BTBR T+ tf/J (BTBR) mouse, a reliable preclinical model for autism that displays core behavioral features of autism as well as persistent immune dysregulation. A combination of behavioral, pharmacological, immunological, genetic, molecular, and transcriptomics approaches were used to uncover the potential role of S100A9 in autism. Significant overexpression of microglial S100A9 was observed in the hippocampus of BTBR mice. BTBR mice displayed decreased social communication and increased repetitive behaviors compared to C57BL/6 mice. Interestingly, the above social dysfunction was attenuated by a pharmacological inhibitor of S100A9, accompanied by a significant reduction in the activated microglia morphological phenotype, inflammatory receptors, and proinflammatory cytokines. Notably, S100A9 inhibition decreased c-Fos(+) cells and promoted myelination in the cornu ammonis 3 of BTBR mice. Furthermore, the promyelinating compound administration ameliorated the autism-relevant behaviors in BTBR mice. Our findings indicate that microglia-derived S100A9 triggers the neuroinflammation cascade, myelination deficits, and social dysfunction. Targeting S100A9 could, therefore, be a promising therapeutic strategy for neuroinflammation-related neurodevelopmental disorders.

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7. González-Madrid E, Rangel-Ramírez MA, Opazo MC, Méndez L, Bohmwald K, Bueno SM, González PA, Kalergis AM, Riedel CA. Corrigendum: Gestational hypothyroxinemia induces ASD-like phenotypes in behavior, proinflammatory markers, and glutamatergic protein expression in mouse offspring of both sexes. Front Endocrinol (Lausanne). 2024; 15: 1527177.

[This corrects the article DOI: 10.3389/fendo.2024.1381180.].

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8. Hsueh YP. Signaling in autism: Relevance to nutrients and sex. Curr Opin Neurobiol. 2024; 90: 102962.

Autism spectrum disorders (ASD) are substantially heterogeneous neuropsychiatric conditions with over a thousand associated genetic factors and various environmental influences, such as infection and nutrition. Additionally, males are four times more likely than females to be affected. This heterogeneity underscores the need to uncover common molecular features within ASD. Recent studies have revealed interactions among genetic predispositions, environmental factors, and sex that may be critical to ASD etiology. This review focuses on emerging evidence for the impact of nutrients-particularly zinc and amino acids-on ASD, as demonstrated in mouse models and human studies. These nutrients have been shown to influence synaptic signaling, dendritic spine formation, and behaviors linked to autism. Furthermore, sex-based differences in nutritional requirements, especially for zinc and amino acids, may contribute to the observed male bias in autism, indicating that interactions between nutrients and genetic factors could be integral to understanding and potentially mitigating ASD symptoms.

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9. Jacques-Fricke BT. Teaching Students to Effectively Evaluate Scientific Evidence and Advocate for Research in the Context of Autism Spectrum Disorder and the Neurodiversity Movement. Dev Biol. 2024.

Connecting socially relevant topics with biological content can boost student engagement and comprehension. Autism Spectrum Disorder (ASD) is an increasingly prevalent diagnosis with a number of intersecting topic areas between developmental biology and social justice. Here I describe two exercises that I developed to engage students in learning opportunities that link scientific process learning goals with real-world applications. First, students examine scientific research practices and work on connecting scientific evidence with conclusions by evaluating the retracted 1998 article by Andrew Wakefield that falsely linked the measles, mumps and rubella vaccination with the development of ASD. Second, students participate in a role-playing exercise to learn about the multiple viewpoints and perspectives that are involved in determining funding levels for scientific research in the United States, including learning about the neurodiversity movement and its impact on establishing ASD research priorities. By explicitly discussing appropriate scientific practices, analyzing the consequences of scientific misconduct and the spread of misinformation, and demonstrating how students can use their voices and their votes to support science funding, we can prepare students to become knowledgeable, empowered, scientifically literate citizens.

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10. Jung S, Richter JD. Trinucleotide Repeat Expansion and RNA Dysregulation in Fragile X Syndrome: Emerging Therapeutic Approaches. Rna. 2024.

Fragile X Syndrome (FXS) is characterized by intellectual impairment caused by CGG repeat expansion in the FMR1 gene. When repeats exceed 200, they induce DNA methylation of the promoter and the repeat region, resulting in transcriptional silencing of the FMR1 gene and the subsequent loss of FMRP protein. In the past decade or so, research has focused on the role of FMRP as an RNA-binding protein involved in translation inhibition in the brain in FXS model mice, particularly by slowing or stalling ribosome translocation on mRNA. More recent advances have shown that FMRP has a profound role in RNA splicing, at least in some cases by modulating the translation of splicing factor mRNAs. In a surprise, the human FMR1 gene is transcribed in most cases even with a full CGG expansion. However, much of the FMR1 that is produced is mis-spliced, which can be corrected by splice-switching antisense oligonucleotide (ASO) administration. Other recent findings suggest that inhibition of multiple kinases can demethylate the FMR1 gene and induce the formation of an R-loop in the CGG repeat region, leading to contraction of the repeat and FMRP restoration. These insights are paving the way for possible future therapeutic approaches for this disorder. We highlight the importance of FMRP restoration by ASO-mediated splice switching or CGG repeat modulation as key advances that may lead to successful treatments for FXS.

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11. Lan K, Jia X, Gao S, Feng Z, Jia M, Yue W, Wei YB, Liu JJ. Research Trends and Hotspots on Family Caregivers of Individuals With Autism Spectrum Disorder From 2002 to 2022: A Bibliometric Analysis. J Child Adolesc Psychiatr Nurs. 2025; 38(1): e70008.

PROBLEMS: Family caregivers of individuals with autism spectrum disorder (FC-ASD) have been reported to experience high levels of physical and psychological distress. This bibliometric study aimed to analyze the research trends, collaboration and knowledge dissemination pertaining to FC-ASD over the past 20 years. METHODS: This study provided an analysis of documents indexed in the Web of Science Core Collection (WoSCC), published from January 1, 2002 to December 31, 2022. VOSviewer and R Package « bibliometrix » were used to conduct performance analysis, coauthorship analysis and keyword co-occurrence analysis. FINDINGS: A total of 9522 articles were included in this study. The number of annual publications has increased sharply. The United States of America demonstrated the highest scientific productivity, and Journal of Autism and Developmental Disorders published the most papers on this topic. Clusters of research hotspots suggested five primary areas received considerable attention, including caregivers’ burden and psychiatric problems, needs and experiences, skills training and intervention, reports of ASD symptoms, comorbidities and prevalence, as well as specific populations and periods of FC-ASD. CONCLUSIONS: Over the past two decades, there has been a progressive increase in the number of publications in the field of FC-ASD. There is a need for further research focused on multidisciplinary, family-centered and telehealth-based interventions, as well as qualitative studies aimed at exploring the experiences of FC-ASD.

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12. Le Donne I, Salfi F, Placentino V, Mazza M, Valenti M, Ferrara M, Parma V. Dimensional Validation of the Italian Revised Version of the Children’s Sleep Habits Questionnaire (CSHQ-r) for Children and Adolescents with ASD. J Autism Dev Disord. 2024.

Sleep problems are common in children with autism spectrum disorder (ASD), with potential repercussions on neurobehavioral functioning exacerbating socio-communicative impairments and aggressive behaviors. Parent reports are the most used method to assess sleep in pediatric populations and a modified 23-item of Children’s Sleep Habits Questionnaire (CSHQ) for ASD has been proposed in the United States. The generalizability of the CSHQ for ASD has yet to be validated across countries, including Italy. To extend the CSHQ applicability to Italian youth with ASD, we back-translated to Italian and revised the 23-item CSHQ, validating its dimensional structure in a sample of children and adolescents with ASD using Explorative Graph Analysis. In addition, we compared the revised scale scores of the ASD group with a typically developing (TD) group. The revised Italian version of the CSHQ (CSHQ-r) consisted of a 15-item tool with a four-dimension structure (Sleep initiation/duration, Sleep anxiety/Co-sleeping, Night awakenings/Parasomnias, and Daytime alertness) with good structural stability. Group comparison indicated significantly higher scores in the ASD group than the TD group, suggesting greater prevalence of sleep disturbances in ASD. The four-dimensional CSHQ-r may represent a useful screening tool to assess sleep disorders in Italian children and adolescents with ASD, with potential implications for clinical practice.

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13. Mamun AA, Geng P, Wang S, Shao C, Xiao J. IUPHAR Review: Targeted Therapies of Signaling Pathways Based on the Gut Microbiome in Autism Spectrum Disorders: Mechanistic and Therapeutic Applications. Pharmacol Res. 2024: 107559.

Autism spectrum disorders (ASD) are complex neurodevelopmental disorders characterized by impairments in social interaction, communication and repetitive activities. Gut microbiota significantly influences behavior and neurodevelopment by regulating the gut-brain axis. This review explores gut microbiota-influenced treatments for ASD, focusing on their therapeutic applications and mechanistic insights. In addition, this review discusses the interactions between gut microbiota and the immune, metabolic and neuroendocrine systems, focusing on crucial microbial metabolites including short-chain fatty acids (SCFAs) and several neurotransmitters. Furthermore, the review explores various therapy methods including fecal microbiota transplantation, dietary modifications, probiotics and prebiotics and evaluates their safety and efficacy in reducing ASD symptoms. The discussion shows the potential of customized microbiome-based therapeutics and the integration of multi-omics methods to understand the underlying mechanisms. Moreover, the review explores the intricate relationship between gut microbiota and ASD, aiming to develop innovative therapies that utilize the gut microbiome to improve the clinical outcomes of ASD patients. Microbial metabolites such as neurotransmitter precursors, tryptophan metabolites and SCFAs affect brain development and behavior. Symptoms of ASD are linked to changes in these metabolites. Dysbiosis in the gut microbiome may impact neuroinflammatory processes linked to autism, negatively affecting immune signaling pathways. Research indicates that probiotics and prebiotics can improve gut microbiota and alleviate symptoms in ASD patients. Fecal microbiota transplantation may also improve behavioral symptoms and restore gut microbiota balance. The review emphasizes the need for further research on gut microbiota modification as a potential therapeutic approach for ASD, highlighting its potential in clinical settings.

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14. Mascari M, Cohen N, Yao M, Huang J, Lane J, Reeves KW, Balasubramanian R, Liu Z, Laouali N, Daniel LM, Chen CY, Seng CY, Shiao-Yng C, Kee MZL, Valvi D, Oulhote Y. Associations of Cord Blood Concentrations of Perfluoroalkyl Substances with Autistic Traits in Singaporean Children: The Growing Up in Singapore Towards Healthy Outcomes Study. Chemosphere. 2024: 144040.

BACKGROUND: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by social deficits and repetitive behaviors. Environmental pollutants may contribute to the etiology of ASD, but studies of perfluoroalkyl substances (PFAS) have shown conflicting results. OBJECTIVES: We assessed associations between cord blood concentrations of PFAS with autistic traits at age seven years in a Singaporean birth cohort. METHODS: We measured cord blood concentrations of eight PFAS in a sample of 430 mother-child pairs from the Growing Up in Singapore Towards Healthy Outcomes (GUSTO) cohort. We assessed autistic traits using the Social Responsiveness Scale Second Edition (SRS-2) and its sub-scores, in which higher scores indicate more autistic traits. We estimated covariate-adjusted associations between the PFAS and SRS-2 scores using Bayesian weighted quantile sum (BWQS) regression models for the PFAS mixtures and multivariable regressions for single PFAS. We additionally evaluated effect modification by biological sex. RESULTS: We observed a positive association between the PFAS mixture and SRS-2 cognition sub-scores (β per SD increase=1.25 points, 95% CI -0.03, 2.40). Perfluorononanoic acid (PFNA) was the strongest contributor to the mixture effect. In single PFAS models, exposure to PFNA was associated with a higher SRS-2 total score (β=0.93 points, 95% CI 0.29, 1.58), cognition sub-score (β=1.26 points, 95% CI 0.55, 1.97), communication sub-score (β=0.88 points, 95% CI 0.20, 1.56), and restrictive and repetitive behaviors sub-score (β=0.93 points, 95% CI 0.23, 1.63). We also observed evidence of effect modification by sex for perfluoroundecanoic acid (PFUnDA) for the total score (p-effect modification [EM]=0.03), cognition sub-score (p-EM=0.03), and communication sub-score (p-EM=0.04), with negative associations seen in females and null associations in males. DISCUSSION: Cord blood PFAS concentrations were positively associated with autistic traits measured by SRS-2.

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15. Natowicz MR, Bauman ML, Edelson SM. A most important gift: the critical role of postmortem brain tissue in autism science. Front Neurol. 2024; 15: 1486227.

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16. Petat H, Michelet I, Hassani A. Scurvy and autism. BMJ Case Rep. 2024; 17(12).

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17. Rava A, Buzzelli V, Feo A, Ascone F, Di Trapano M, Schiavi S, Carbone E, Pasquadibisceglie A, Polticelli F, Manduca A, Trezza V. Role of peroxisome proliferator-activated receptors α and γ in mediating the beneficial effects of β-caryophyllene in a rat model of fragile X syndrome. Prog Neuropsychopharmacol Biol Psychiatry. 2024; 136: 111234.

β-Caryophyllene (BCP) is a naturally occurring sesquiterpene found in numerous plant species, including Cannabis sativa. BCP has shown a high safety profile and a wide range of biological functions, including beneficial effects in neurodegenerative and inflammatory diseases. Here, we used behavioral, pharmacological, and in-silico docking analyses to investigate the effects and mechanism of action of BCP in Fragile X Syndrome (FXS), the most common inherited cause of Autism Spectrum Disorder (ASD) and intellectual disability. To this aim, we used the recently validated Fmr1-(Δ)exon 8 rat model of FXS, that is also a genetic rat model of ASD. Acute and repeated oral administration of BCP rescued the cognitive deficits displayed by Fmr1-(Δ)exon 8 rats, without inducing tolerance after repeated administration. These beneficial effects were mediated by activation of hippocampal peroxisome proliferator-activated receptors (PPARs) α and γ, and were mimicked by the PPARα agonist Fenofibrate and the PPARγ agonist Pioglitazone. Conversely, CB2 cannabinoid receptors were not involved. Docking analyses further confirmed the ability of BCP to bind rat PPARs. Together, our findings demonstrate that hippocampal PPARs α and γ play a role in the cognitive deficits observed in a rat model of FXS, and provide first preclinical evidence about the efficacy and mechanism of action of BCP in neurodevelopmental disorders.

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18. Shimizu Y, Yoshida T, Ito K, Terada K, Sasaki N, Honda E, Motomura K. Impact of Autism on the Relation Between Sleep and Life Satisfaction in Japanese Adults. Diseases. 2024; 12(12).

BACKGROUND/OBJECTIVES: Sleep disorders, such as short sleep, are common comorbidities in individuals with autism spectrum disorder (ASD). Sleep quality and duration are directly associated with quality of life (QOL). Clarifying the influence of ASD on the association between short sleep duration and life satisfaction is an efficient way to improve the QOL of patients with ASD. METHODS: To clarify the influence of ASD on the association between short sleep duration and life satisfaction scale scores, we conducted a web-based cross-sectional study involving 3823 Japanese adults aged 20-64 years. RESULTS: In all the participants, a significant inverse association was observed between short sleep duration and life satisfaction. The adjusted odds ratio (OR) and 95% confidence interval (CI) of short sleep for one standard deviation (SD), the increment of life satisfaction scale (2.5 for men and 2.4 for women), was 0.76 (0.70, 0.82). When the analyses were stratified by ASD status, a significant inverse association was observed only among participants without ASD. The corresponding ORs (95% CIs) were 0.73 (0.67, 0.80) and 1.08 (0.85, 1.39) for those with and without ASD. Patients with ASD also showed a significant interaction effect on the association between short sleep duration and life satisfaction. CONCLUSIONS: Only participants without ASD showed a significant inverse association between short sleep duration and life satisfaction. Although further investigations are necessary, these results can help clarify the mechanism underlying the association between QOL, short sleep duration, and ASD.

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19. Spicer L, DeCicco E, Clarke A, Ambrosius R, Yalcin O. Understanding early maladaptive schemas in autistic and ADHD individuals: exploring the impact, changing the narrative, and schema therapy considerations. Front Psychol. 2024; 15: 1436053.

Autistic/ADHD individuals are increasingly recognised as a valid minority group, with consistent research demonstrating a higher prevalence of co-occurring mental health conditions such as PTSD, anxiety, depression, substance use, and eating disorders among other mental health challenges. Due to this, there is increasing focus on the adaptations required for Autistic and ADHD individuals of current therapeutic approaches such as Schema Therapy. Particular emphasis when creating these adaptations needs to include looking at the developmental experiences, social influences, and continued adversity faced by Autistic and ADHD individuals across the lifespan, and how the narrative around Autism and ADHD within psychotherapy in general needs to change. This paper critically examines the role of attachment, unmet needs, and adverse childhood experiences in Autistic and ADHD individuals and the subsequent impact on schema development and maintenance and mental health. This will include an overview of the current literature in this area, reconsideration of understandings of Autism and ADHD, particular therapeutic considerations and adjustments and importantly discussion around the wider societal changes that need to occur to prevent schema development and reinforcement across the lifespan.

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20. Sun YY, Liu H, Liu M, Mei SY, Ma YL. [Autosomal dominant intellectual developmental disorder 60 with seizures: a case report]. Zhongguo Dang Dai Er Ke Za Zhi. 2024; 26(12): 1362-6.

The patient is a 10-month and 21-day-old girl who began to show developmental delays at 3 months of age, with severe language developmental disorders, stereotyped movements, and easily provoked laughter. Physical examination revealed fair skin and a flattened occiput. At 10 months of age, a video electroencephalogram suggested atypical absence seizures, with migrating slow-wave activity observed during the interictal period. Whole exome sequencing of three family members indicated a novel mutation in the AP2M1 gene, c.508C>T (p.R170W), in the patient. A total of six cases of autosomal dominant intellectual developmental disorder 60 with seizures associated with mutations in the AP2M1 gene have been reported both domestically and internationally (including this study). The main clinical features included developmental delays (6 cases), language developmental disorders (5 cases), stereotyped movements (3 cases), a tendency to smile (1 case), and atypical absence seizures (4 cases). Interictal electroencephalograms showed widespread spike waves and spike-slow wave discharges (5 cases), and migrating slow-wave activity (1 case). The c.508C>T (p.R170W) mutation may be a hotspot for mutations in the AP2M1 gene, and its clinical features are similar to those of Angelman syndrome.

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21. Tanabe M, Saito Y, Takasaki A, Nakano K, Yamamoto S, Suzuki C, Kawamura N, Hattori A, Oikawa M, Nagashima S, Yanagi S, Yamaguchi T, Fukuda T. Role of immature choroid plexus in the pathology of model mice and human iPSC-derived organoids with autism spectrum disorder. Cell Rep. 2024; 44(1): 115133.

During gestation, the choroid plexus (ChP) produces protein-rich cerebrospinal fluid and matures prior to brain development. It is assumed that ChP dysfunction has a profound effect on developmental neuropsychiatric disorders, such as autism spectrum disorder (ASD). However, the mechanisms linking immature ChP to the onset of ASD remain unclear. Here, we find that ChP-specific CAMDI-knockout mice develop an immature ChP alongside decreased multiciliogenesis and expression of differentiation marker genes following disruption of the cerebrospinal fluid barrier. These mice exhibit ASD-like behaviors, including anxiety and impaired socialization. Additionally, the administration of metformin, an FDA-approved drug, before the social critical period achieves ChP maturation and restores social behaviors. Furthermore, both the ASD model mice and organoids derived from patients with ASD developed an immature ChP. These results propose the involvement of an immature ChP in the pathogenesis of ASD and suggest the targeting of functional maturation of the ChP as a therapeutic strategy for ASD.

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22. Varley D, Southby K, Trigwell J, Brown SS, Lines N, Hearn A, Bagnall AM. Hybrid Service Delivery for voluntary, community and social enterprise organisations working with adults with learning disabilities and/or autism: a realist review protocol. Syst Rev. 2024; 13(1): 316.

BACKGROUND: Delivery of health and care services using a combination of remote and/or in-person channels and digital and/or traditional tools (Hybrid Service Delivery, HSD) is increasingly seen as a way of improving quality and affordability, improving access, personalisation and sustainability, and reducing inequalities. Across the voluntary, community and social enterprise sector (VCSE), using a combination of remote and/or in-person channels and digital and/or traditional tools (HSD) has enabled the essential provision of services for people who have learning disabilities and/or autistic (LDA). However, it is unclear how different tools and channels have been used, what worked well or not well, for whom, and in what circumstances. The aim of this realist review is to explore how VCSE organisations can effectively use digital technologies alongside or instead of in-person activity to provide social care services to adults with learning disabilities and/or autism. This review protocol is presented in accordance with the Preferred Reporting Items for Systematic Review and Meta-Analysis Protocol (PRISMA-P). METHODS: We will conduct a participatory realist review. Following realist review methodology, and involving people with LDA and organisations who deliver services to them, we will define the scope of the review/theory development, search for and appraise evidence, extract and synthesise findings, and develop the narrative. Using a developed strategy, electronic databases (Academic Search Complete, CINAHL, MEDLINE, PsycInfo, SCOPUS, Social Science Citation Index and Social Policy and Practice) will be searched. A data extraction table will be used to assist in sifting, sorting and organising relevant information from identified studies. For each proposition statement, relevant data from the identified literature will be synthesised and compared with the proposed theory to develop an understanding of how, why and when hybrid delivery works in different settings with different populations. DISCUSSION: This review aims to collate and synthesise evidence relating to hybrid service delivery in VCSE organisations to provide social care services to LDA adults. By conducting a participatory realist review, we anticipate that the findings will lead to a greater understanding of contextual factors and therefore more relevant recommendations. SYSTEMATIC REVIEW REGISTRATION: PROSPERO CRD42024457161.

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23. Yu L, Ban L, Yi A, Xin J, Li S, Wang S, Mottron L. Acoustic Exaggeration Enhances Speech Discrimination in Young Autistic Children. Autism Res. 2024.

Child-directed speech (CDS), which amplifies acoustic and social features of speech during interactions with young children, promotes typical phonetic and language development. In autism, both behavioral and brain data indicate reduced sensitivity to human speech, which predicts absent, decreased, or atypical benefits of exaggerated speech signals such as CDS. This study investigates the impact of exaggerated fundamental frequency (F0) and voice-onset time on the neural processing of speech sounds in 22 Chinese-speaking autistic children aged 2-7 years old with a history of speech delays, compared with 25 typically developing (TD) peers. Electroencephalography (EEG) data were collected during passive listening to exaggerated and non-exaggerated syllables. A time-resolved multivariate pattern analysis (MVPA) was used to evaluate the potential effects of acoustic exaggeration on syllable discrimination in terms of neural decoding accuracy. For non-exaggerated syllables, neither the autism nor the TD group achieved above-chance decoding accuracy. In contrast, for exaggerated syllables, both groups achieved above-chance decoding, indicating significant syllable discrimination, with no difference in accuracy between the autism and TD groups. However, the temporal generalization patterns in the MVPA results revealed distinct neural mechanisms supporting syllable discrimination between the groups. Although the TD group demonstrated a left-hemisphere advantage for decoding and generalization, the autism group displayed similar decoding patterns between hemispheres. These findings highlight the potential of selective acoustic exaggeration to support speech learning in autistic children, underscoring the importance of tailored, sensory-based interventions.

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24. Zhang Y, Xie F, Li S, Li Y, Yang L, Wang Z, Lei J, Guo H. Associations of Serum Manganese, Zinc, Copper, and Selenium Concentrations With Autism Spectrum Disorders in Chinese Children: A Case-Control Study. Autism Res. 2024.

Imbalances in several trace elements related to antioxidant function may lead to autism spectrum disorder (ASD)-related physiological dysfunction. Nonetheless, contradictory results have been found on the connection between these elements and ASD, and studies of their joint effects and interactions have been insufficient. We therefore designed a case-control study of 152 ASD children and 152 age- and sex-matched typically developing (TD) children to explore the individual and combined associations of manganese (Mn), zinc (Zn), copper (Cu), and selenium (Se) with ASD. Compared with TD, ASD has lower Zn and Se levels and higher Cu levels. The restricted cubic spline model showed J-shaped non-linearity, L-shaped non-linearity, and positive linearity correlations between Mn, Zn, Cu, and ASD. Zn and Cu were negatively and positively correlated with ASD symptoms, respectively. The superoxide dismutase (SOD) mediated 50.53% and 39.07% of the association between Zn, Se, and ASD, respectively. Bayesian kernel machine regression (BKMR) confirmed a U-shaped correlation between the element mixtures and ASD. Interactions of Mn with the other three elements and Cu with Zn were also observed. Our results confirm that the independent and combined exposure to the four trace elements was associated with ASD, with oxidative stress being an important mechanism. Due to the potential interactions between the elements, further research is needed to explore their involvement in the pathogenesis and progression of ASD from a combined perspective, as well as the beneficial and harmful concentration ranges.

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