1. Abughazalah N, Khan M. An intelligent fuzzy-neural framework for autism sensory assessment using hierarchical linguistic modeling and risk-based temporal decision-making. Sci Rep. 2025; 15(1): 34206.

Autistic diagnosis and sensory tests present subjectivity, temporal behaviors, and vagueness. In the autistic sensory classification model, Recurrent Neural Networks (RNNs) and Long Short-Term Memory (LSTM) networks are considered for temporal sensory response patterns learning. To alleviate these challenges, we introduced an original hybrid framework that combines double hierarchy hesitant linguistic term sets (DHHLTS), temporal Three-Way Decision-Making (TWD). There are essentially three advantages of our research work in that, first, double fuzzy hierarchy mapping for dealing with precise expert evaluations. Secondly, temporal-aware RNN architecture is motivated by Hamacher t-norm/t-conorm aggregations. Lastly, explainable probabilistic TWD for risk categorization. This work combines fuzzy logic and decision theory to furnish an executable tool for caring for autistic people.

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2. Ahi Üstün ES, Yazıcı S, İlhan RS, Saka MC. Clinical implications of autistic features in the psychosis spectrum: a cross-sectional study using path analysis. BMC Psychiatry. 2025; 25(1): 902.

BACKGROUND: Despite the fact that there have been many studies on the connection between autism and psychosis, there are still many things that are unknown about the significance of this connection. Recent studies have highlighted the significant overlap between autistic traits and psychotic disorders, yet the clinical implications of these associations are not well understood. This study aims to address this knowledge gap by investigating the links between autistic features and various clinical, functional and behavioural outcomes in individuals with psychosis spectrum. METHODS: The study included 125 patients who had at least one psychotic episode and who had used antipsychotic medication for most of the treatment period. The clinician conducted face-to-face interviews to evaluate all other clinical characteristics, while self-report scales were employed to evaluate autistic features and quality of life. Complex associations were understood using path analysis. RESULTS: Our study showed that there was a negative association between autistic features and functioning, quality of life and subjective treatment benefit; and a positive association with severity of disorder, severity of anxiety and depression, severity of positive and negative symptoms, suicidal ideation and behaviour, psychiatric comorbidity and number of psychotic episodes. Depression intensity mediated autistic features’ effect on suicidal thoughts. Those who were non-smokers and bullied by peers reported more autistic traits. CONCLUSIONS: Taken together, our results highlight the importance of autistic features in the psychosis spectrum. It is clear that there is a significant gap in clinical knowledge regarding the relationship between autism and psychosis and that further improvements in diagnostic tools and treatment options are needed. As our study is cross-sectional in design, speculation about causality is limited and further prospective research is needed.

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3. Assaf R, Shehabeddine Z, Ramesh V. Screening autism spectrum disorder in children using machine learning on speech transcripts. Sci Rep. 2025; 15(1): 34134.

Early detection of Autism Spectrum Disorder (ASD) in children is crucial for timely interventions that can improve developmental outcomes. Traditional diagnostic methods are often resource-intensive, time-consuming, and may raise ethical concerns regarding privacy, particularly for minors. In this study, we evaluate the feasibility of privacy-preserving machine learning models for ASD detection using children’s speech transcripts. By exclusively leveraging structured text-based inputs, our method inherently avoids the direct use of identifiable biometric data, such as raw audio or video, thus significantly reducing privacy risks. Although we have not implemented explicit cryptographic privacy measures (e.g., differential privacy, encryption), our approach minimizes privacy concerns inherently associated with sensitive biometric data. We conducted experiments on two datasets from the TalkBank repository, focusing on linguistic features such as Mean Length of Utterance (MLU) and Mean Length of Turn Ratio (MLT Ratio). Our results demonstrate strong predictive performance, with models achieving accuracy above 86% across both datasets. Notably, we found that a small, focused subset of features was sufficient to maintain this level of performance, reducing the need for extensive data collection, thereby enhancing privacy. These findings highlight the promise of computational linguistics in advancing non-invasive, ethical approaches to ASD detection, providing a foundation for future applications in clinical and educational contexts.

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4. Asselt AV, Roke Y, Begeer SM, Scheeren AM. ‘Feeling constantly kicked down’: A qualitative phenomenological study exploring rejection sensitivity in autistic adults. Autism. 2025: 13623613251376893.

Autistic individuals are at greater risk of social rejection than non-autistic peers. On social media, adults with autism report an extreme sensitivity to social rejection. This qualitative study explored lived experiences of heightened rejection sensitivity in this population. Purposive sampling through social media was used to recruit 19 autistic adults aged 21-71 (11 women, 8 men) who self-reported heightened rejection sensitivity. Face-to-face or online semi-structured interviews were held. Interpretative phenomenological analysis was utilized to analyse the data, and synthesized member checking was conducted to ensure data accuracy. Participants described their rejection sensitivity as profoundly overwhelming, exhausting emotions and thoughts when anticipating or perceiving rejection and criticism. These responses could be accompanied by physical tension, pain and reliving past rejections. Its intensity varied greatly depending on contextual factors (e.g. baseline mood and topic of rejection) and was frequently invalidated. Identified predisposing factors included inherent autistic traits and lifelong rejection experiences. Many strategies were employed to alleviate these challenges, including therapy, with varying success. The participants’ lived experiences show that heightened rejection sensitivity can be a debilitating yet overlooked experience in autistic adults. Further quantitative research is needed to study its prevalence, predisposing factors, impact and potential interventions.Lay abstractUnderstanding rejection sensitivity in autistic adults: An interview study to gather insights from lived experiencesWhy was this study done?Autistic individuals are more likely to face rejection and criticism than non-autistic individuals. How stressful these events are can depend on their rejection sensitivity. People with higher rejection sensitivity are more anxious about being rejected, are quicker to think that they are being rejected and have stronger reactions when rejection happens. Some autistic adults on social media describe their rejection sensitivity as extreme. This study aimed to better understand how these adults with autism experience their rejection sensitivity and how it affects their daily lives.What did the researchers do?We interviewed 19 adults with autism, aged 21 to 71, who experience high rejection sensitivity. These interviews were done either face-to-face or online. After analysing the interviews, we shared the findings with participants to check if they matched their experiences.What did the researchers find?Participants described their rejection sensitivity as overwhelming and exhausting. When they felt rejected or criticized, or feared this would happen in the future, they experienced strong emotional and physical reactions, such as overthinking, tension and pain. They could also re-experience memories of past rejection or criticism during these moments. The intensity of these responses varied depending on the situation and was often dismissed by others, including healthcare professionals. Participants felt that their rejection sensitivity came from a combination of their autistic traits and lifelong experiences of being rejected. Some tried therapy or other ways to cope with their rejection sensitivity, with mixed success.What do the findings mean?This study shows that high rejection sensitivity can be a serious and often overlooked challenge for autistic adults. More research is needed to understand it better and support them with this experience.

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5. Chalk A, Bauer A, Higgins N, Tranter I, Nitz M. Autism spectrum disorder in older people: A scoping review of the screening and diagnostic tools available for diagnosis. Aust N Z J Psychiatry. 2025: 48674251374475.

BACKGROUND: The diagnosis and management of autism spectrum disorder is an important clinical issue for psychiatrists. However, there is a lack of research and resources to recognise this condition in older people. This condition is important to detect and diagnose because it is associated with high incidence of psychiatric comorbidity. The diagnosis helps clinicians understand the additional needs of these patients and helps families understand their additional difficulties. This paper aims to identify the studies that have been conducted on autism in the eldest and the approaches to detect and diagnose this. METHOD: A scoping review was conducted in accordance with the PRISMA Extension for Scoping Reviews guidelines. Searches were performed on five databases where search terms were based on (1) Autism, (2) Aged/Elderly and (3) Diagnosis. Two authors independently assessed the results with discrepancies resolved by a third reviewer. Quality was assessed using Mixed Method Quality Assessment Tool in included systematic reviews, randomised control trials, case-control studies, cohort studies, case series and case reports. RESULTS: The review identified 4 diagnostic tools, and 19 screening tools available for use in the elderly. However, most of these tools were not validated in studies focusing on older people and most included a small number of older people in their sample. CONCLUSION: Given Australia’s ageing population, and resultant increasing demands on healthcare services, this is an important topic to inform future research and clinical practice. More research is required to validate or create diagnostic and screening tools specifically for older people.

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6. Chen B, Zhao J, Li Y, Chen C, He R, Wang G, Xu P, Li F, Yao D. Biological motion stimuli reveals the severity of the social deficits of ASD: an EEG study. Prog Neuropsychopharmacol Biol Psychiatry. 2025: 111513.

The integration of individuals with autism spectrum disorder (ASD) into society and their capacity to lead fulfilling lives are significantly hindered by challenges in social communication. Consequently, it is crucial to explore the underlying neural mechanisms and establish early diagnostic approaches to accurately assess the severity of social interaction impairments in ASD. To investigate the social deficits in ASD, particularly in identifying reliable biomarkers for predicting the severity of social impairments, the current study focused on the sample entropy, functional connectivity, and network properties under biological motion tasks (biological motion (BM) and scramble motion (Scr) in both ASD and typically developing (TD) children. The findings suggest that, compared to TD, those with ASD exhibit higher sample entropy in localized brain regions, specifically the frontal and occipital lobes, regardless of whether they are under BM or Scr conditions. Moreover, ASD is characterized by enhanced long-range connectivity involving the frontal, parietal, and occipital lobes. These results collectively highlight the abnormal neural mechanisms of ASD when engaging with BM tasks, which further found a significant correlation between the network properties and the ADOS social score. Notably, by utilizing network properties and sample entropy as features, the severity of social impairments in autism can be effectively predicted through multiple stepwise regression analyses. These findings illuminate the pathophysiological mechanisms of ASD’s social deficits from both local and global perspectives, offering potential biomarkers for quantifying social dysfunction in autism.

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7. Dinle YYH, Liu R, Sengupta M, Panjaliya RK, Das P, Munshi A, Chakraborty S, Li J, Qi B, Mohamed ZA, Tong Q, Zhang M, Wen J, Banerjee S. ZNRF3 in neurodevelopmental disorders: insights into Wnt signaling and therapeutic potential. Neurogenetics. 2025; 26(1): 72.

Neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD), attention-deficit hyperactivity disorder (ADHD), and intellectual disabilities (ID), have seen an increasing prevalence in recent years. Both genetic and environmental factors have been implicated in the pathogenesis of these conditions. One such gene, ZNRF3, plays a pivotal role in regulating neural cell growth and connectivity, with variations in this gene linked to disruptions in neural differentiation and communication. This review synthesizes genetic, molecular, and clinical research to examine the role of ZNRF3 in brain development. Furthermore, it explores the impact of prenatal environmental exposures and healthcare policies on diagnostic practices and treatment accessibility. The findings highlight the need for improved genetic screening, early intervention strategies, and policy reforms aimed at facilitating personalized care for individuals affected by ZNRF3-related NDDs.

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8. Drehmer I, Braz-Barbosa B, Gottfried C, Santos-Terra J, Deckmann I. Placental alterations related to neurodevelopmental and associated disorders. Behav Brain Res. 2025; 494: 115721.

Neurodevelopmental disorders (NDDs), such as autism spectrum disorder (ASD) and attention deficit and hyperactivity disorder (ADHD), are conditions that are triggered during neurodevelopment in embryonic life and persist in postnatal life, leading to behavioral impairments. Despite the rising prevalence and extensive research, the mechanism behind the etiology of both disorders is not completely known. This narrative review explores the intricate interplay of genetic and environmental risk factors within the placenta, a pivotal transient organ crucial for fetal sustenance, and its role in the bidirectional passage of nutrients, gases, waste, hormones, and inflammatory mediators between the mother and fetus. We present a comprehensive overview of placental alterations associated with the diagnosis of NDDs (ASD and ADHD) and fetal alcohol spectrum disorders (FASD). Through this review, potential molecular targets emerged like epigenetic markers for ASD, immune alterations for ADHD, and altered gene expression for FASD, highlighting specific roles of the placenta in different contexts of NDDs.

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9. Erdogan M, Olinger E, Ferrao Santos S. Atypical Rett syndrome with chorea: a case report. Acta Neurol Belg. 2025.

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10. Halldner L, Eberhard S, Lichtenstein P, Gustafsson P, Gillberg C, Johnson M, Billstedt E, Täljemark J, Råstam M, Lundström S. Thorough clinical child psychiatric diagnostic evaluation and validation of the Autism- Tics, ADHD and other comorbidities inventory (A-TAC) in a population-based sample of 9-year-olds. BMC Psychiatry. 2025; 25(1): 918.

BACKGROUND: The Autism- Tics, ADHD and other Comorbidities inventory (A-TAC) has been validated in epidemiological data. However, validation against clinical diagnostic assessments in a population-based sample has been lacking, limiting the implications for clinical practice, clinical research and public health decisions. METHODS: Study participants were recruited from the longitudinal Child and Adolescent Twin Study in Sweden (CATSS) inviting parents to all twins in Sweden. We investigated the psychometric properties of the A-TAC in 263 children, where one or both twins screened positive for neuropsychiatric problems, as well as control pairs, where both twins were screen negative. Study participants underwent thorough clinical examination within one year of the A-TAC interview. The psychometric properties of the A-TAC were then investigated. We also mapped the extent of comorbidity of neurodevelopmental disorders. RESULTS: Using the A-TAC as screening for neurodevelopmental disorders we could discriminate two groups of children with clearly different occurrences of clinical diagnoses. The predictive screening properties of the A-TAC were good for most of the neurodevelopmental disorders (AUC ranging from 0.806 to 0.958), with exception for developmental coordination disorder (AUC = 0.616). More than 40% of children fulfilling diagnostic criteria for a neurodevelopmental disorder, also fulfilled diagnostic criteria for at least one other neurodevelopmental disorder. CONCLUSION: This study confirms the utility of the A-TAC interview as a screening tool for neuropsychiatric disorders in a non-clinical sample. It also supports the necessity to maintain a broad diagnostic approach in clinical child psychiatric investigations for meaningful understanding of the child’s problems. Although, A-TAC can be informative on neurodevelopmental problems in both clinical and population-based samples, it cannot replace a clinical neurodevelopmental investigation or be used to delimit individual access to specialized care.

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11. Hendry A, Nosyk M, Hulks V, Hudson J, Constable L, Charman T, Mathers S, Rhodes S, Scerif G. Protocol for a feasibility randomized control trial of the Supporting Toddlers with a connection to autism or ADHD to develop Strong Attention, Regulation, and Thinking skills (START) programme. Pilot Feasibility Stud. 2025; 11(1): 122.

BACKGROUND: Autism and ADHD are heritable, co-occurrent, and associated with difficulties with executive functioning (cognitive and self-regulation skills which enable us to set and work toward goals). Executive function difficulties, and their negative impacts across cognitive, health and social domains, extend to individuals with first-degree relatives who are autistic or have ADHD, even if they do not meet thresholds for a clinical diagnosis themselves. Supporting executive function development in children with elevated autism traits, or a first-degree relative with autism or ADHD, addresses community priorities for early support to help achieve the best mental health, education and life outcomes. METHODS: This study will evaluate the feasibility and acceptability of a randomized controlled trial (RCT) of a parent-toddler programme entitled « Supporting Toddlers with a connection to autism or ADHD to develop strong Attention, Regulation and Thinking skills » (START). START is a neurodiversity-affirming programme, co-refined through extensive Patient and Public Involvement. Sixty parent-child dyads, in Oxford or Southampton (UK), will be randomized using Sealed Envelope by a researcher not involved in recruitment, delivery or outcome data collection to receive START or usual practice, on a 1:1 ratio. Children (20 months old) will be assessed using questionnaires completed by the parent (not blind to allocation) post-intervention (within 2 weeks of the end of the active intervention wave, when children are aged 27-31 months), and using parent questionnaires and a battery of executive function measures administered by researchers blind to allocation at baseline and follow-up (36 months old). START will be delivered in small groups to 30 parent-child dyads, in community settings. DISCUSSION: We will assess the feasibility of recruiting eligible participants to the study, the reliability of measures of implementation fidelity and degree of implementation fidelity achieved, the appropriateness of proposed outcome and mechanism measures, the acceptability of an RCT of the programme, parental adherence to the programme, logistics of programme delivery, and the acceptability of START, using mixed-method measures of engagement and satisfaction. Results will inform the design and implementation of a definitive RCT of START, and yield broader insights into the delivery and evaluation of complex early-years interventions in community settings. TRIAL REGISTRATION: ISRCTN registry ISRCTN99820028 https://doi.org/10.1186/ISRCTN99820028 .

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12. Huang JL, Sharifi O, Yasui DH, LaSalle JM. MeCP2 at the crossroads of hypoxia, oxidative stress, and gene regulation in Rett syndrome. Epigenomics. 2025: 1-11.

Rett syndrome (RTT) is a severe neurodevelopmental disorder primarily affecting females, caused by mutations in the X-linked gene MECP2. This gene encodes methyl CpG binding protein 2 (MeCP2), a multifunctional epigenetic regulator critical for neuronal gene regulation. In addition to well-characterized neurological symptoms, such as seizures and motor abnormalities, RTT patients frequently present with irregular breathing patterns that induce intermittent hypoxia, suggesting that MeCP2 contributes to respiratory regulation as well as the brain’s cellular and molecular response to hypoxia. Mechanistically, MeCP2 appears to influence hypoxia-induced expression of the neuroprotective peptide brain-derived neurotrophic factor (BDNF), as impaired BDNF regulation in MeCP2-deficient neurons contributes to hypoxia vulnerability. RTT patients also display increased oxidative stress, marked by elevated lipid peroxidation, DNA damage, and reduced antioxidant production. Dysfunctional mitochondria in MeCP2-deficient astrocytes and neurons further propagate oxidative damage and non-cell-autonomous effects of MeCP2 loss. Moreover, recent transcriptomic studies revealed widespread transcriptional dysregulation in RTT, including pathways associated with mitochondrial function and oxidative stress. We review and discuss an expanded role for MeCP2 as a critical integrator of hypoxia sensing, oxidative stress regulation, and transcriptional adaptation in the developing brain, offering new insights into treatments targeting the complex pathophysiology of RTT. The protein methyl CpG binding protein 2 (MeCP2) is involved in multiple processes that affect how our genes are turned on and off. Although MeCP2 is present in most cells throughout the body, it is particularly important for proper development of neurons in the brain. Defects in MeCP2 are responsible for most cases of Rett Syndrome, while excess amounts lead to MeCP2 Duplication Syndrome; both are disorders of abnormal brain development. One common symptom of these disorders is disturbances in breathing patterns, such as breath holding or temporary pauses in breathing. These symptoms are associated with lower oxygen levels in the blood, leading to an increase in free radicals produced by the mitochondria. Excess amounts of free radicals can change or damage molecules within the body, and many of these damage indicators are found at higher levels within patients in which MeCP2 is not functioning normally. This ultimately results in damage to cells and DNA. MeCP2 also plays a role in helping the brain respond to low oxygen levels. One of the potential ways it achieves this is by promoting the production of factors that help protect neurons from cell death. Furthermore, studies on genes that display altered expression patterns in Rett syndrome reveal that many of these genes are involved in processes related to mitochondria, which generate energy but also free radicals, and oxygen response. Overall, this review discusses the role of MeCP2 in responding to low oxygen levels through its control over switching genes on or off. eng.

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13. Kadam SJ, Goel M. Bridging the gap: autism spectrum disorder in children in the United States and worldwide: a narrative review. Clin Exp Pediatr. 2025.

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by difficulty with communication and social interactions as well as restricted or repetitive behaviors. Over the last few decades, the prevalence of ASD has increased globally, with major differences in reporting, diagnosis, and interventions between developed and developing countries. The United States (U.S.) has seen a sharp rise in diagnosed ASD cases, with a current prevalence of approximately 1 in 31 children, due to improved awareness, early screening programs, and timely intervention. The U.S. healthcare system supports early intervention services through policies such as the Individuals with Disabilities Education Act and insurance mandates for ASD coverage. However, countries in Latin America, Africa, and Asia face challenges in ASD care, including limited access, stigma, underdiagnosis, and lack of resources. The World Health Organization Caregiver Skills Training, a global initiative, and the involvement of nongovernmental organizations are gradually bridging this gap. An interprofessional approach highlighting cross-cultural research, training providers, screening tools, referral options, policy implementation, and community- based care on a global scale will help reduce disparities in ASD care among countries. Making ASD care a global public health priority could help ensure developmental and mental healthcare equity. This study compares ASD care in the U.S. to that worldwide, highlighting the importance of global collaboration for early detection, service availability, and research.

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14. Larsen AB, Buhl RB, Müller K, Dinesen B. The Use of the Social Robot LOVOT for Children with Autism Spectrum Disorder: A Feasibility Study. Stud Health Technol Inform. 2025; 332: 77-81.

BACKGROUND: One in 100 children is diagnosed with autism spectrum disorder (ASD). Social robots have proven to be a promising technology for children with ASD. The emergence of the social robot LOVOT adds new dimensions to the interaction between robots and children with ASD. AIM: To explore how staff experience using the social robot as a pedagogical tool for children with ASD. METHOD: This study was conducted at an institution in Denmark that specializes in special education programs for children with ASD. The interactions between children with ASD and the social robot were tested in individual sessions twice per week for a total of four weeks. Four children with ASD between 9-14 years were included (n=4). A triangulation of data collection techniques was used: Participant observation (n = 15 hours), children’s questionnaire (n = 4), and semi-structured interviews with staff (n = 3). FINDINGS: Findings can be summarized as follows: Acceptance of the social robot, positive changes in mood and behavior of children with ASD, a secure relationship, technical and practical issues to overcome, and ethical considerations. CONCLUSION: The professional staff saw a potential for using the robot with AI functionalities as a pedagogical tool for children with ASD.

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15. Ledford H. Features of autism can affect age of diagnosis – and so can genes. Nature. 2025.

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16. Li HX, Xuan DS, Mu R, Qin C, Zhao X. Hippocampal Subregion Function and Its Clinical Correlations in Childhood Autism Spectrum Disorders. Autism Res. 2025.

The hippocampus plays a crucial role in memory and social processing, both of which are impaired in autism spectrum disorder (ASD). Investigating the functional activity of hippocampal subregions can provide valuable insights into their involvement in ASD-related social and behavioral symptoms. This study analyzed hippocampal resting-state functional connectivity (rsFC) in 507 male child participants from the ABIDE dataset (225 ASD, 282 typical controls) and its relation to clinical features. The hippocampus was subdivided into rostral and caudal subregions, and rsFC patterns were compared between groups. Significant group differences were observed in the left caudal, right rostral, and right caudal hippocampus, with enhanced connectivity to widespread cortical and subcortical regions, including visual, motor, parietal, and cerebellar networks. Machine learning using hippocampal rsFC achieved modest classification performance. Clinically, rsFC correlated with core ASD symptoms: social awareness was associated with right caudal connectivity to fusiform and temporal regions, while restricted and repetitive behaviors were linked to distinct rostral-caudal patterns involving frontal, motor, and cerebellar areas. Age of onset showed positive correlations with rsFC across all subregions, with rostral hippocampus engaging socioemotional and motor control networks and caudal hippocampus connecting more strongly to visual and sensorimotor integration regions. These findings demonstrate subregional specificity of hippocampal connectivity in ASD, suggesting distinct anterior-posterior contributions to symptom expression and developmental timing.

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17. Lopez Valencia M, Velázquez Aponte RA, Baur JA, Jongens TA, Sehgal A. Sleep in a mouse model of fragile X syndrome is resistant to metabolic manipulations. Hum Mol Genet. 2025.

Fragile X Syndrome is the most prevalent known genetic cause of intellectual disability (ID), affecting around 1 in 4 000 individuals, and is also highly associated with autism spectrum disorder (ASD). Humans with the disorder and animal models display sleep and metabolic abnormalities. Given growing evidence of links between sleep and metabolism, we sought to determine if metabolic abnormalities underlie sleep deficits in mice lacking the Fragile X messenger ribonucleoprotein 1 (FMR1) gene. We found that metformin, a drug that targets metabolic pathways and has been shown to alleviate other symptoms in FXS, did not rescue sleep in mutant mice. Instead, metformin enhanced activity of Fmr1 knockout (KO) mice. As a way of exaggerating possible metabolic phenotypes, we treated mice with a high fat diet (HFD) and found that although this disrupted the sleep pattern in controls, it did not impact the sleep phenotype in Fmr1 KOs. Increased sleep during the dark phase, caused by HFD in wild type animals, was alleviated by metformin treatment. Metformin also decreased weight gain of wild type animals on a HFD, but the effect was delayed in Fmr1 KO mice. Fmr1 KO mice with or without metformin treatment displayed hyperphagia on a HFD, yet did not show higher weight gain than wild type. And, surprisingly, their glucose tolerance was equivalent to that of wild type mice on metformin. We suggest that Fmr1 KO mice are better able to metabolize fat and so are relatively resistant to its negative effects on sleep and metabolism.

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18. Lotufo-Denucci B, de Sousa MC, de Paula Aguiar NA, Paes-Branco D, Pinheiro V, Araújo UC, Braga FU, de Souza CA, Ribeiro-Carvalho A, Abreu-Villaça Y, Manhães AC, Filgueiras CC. Valproic Acid Exposure During the Brain Growth Spurt Leads to Autistic-Like Behaviours in Mice. Int J Dev Neurosci. 2025; 85(6): e70056.

Prenatal exposure to valproic acid (VPA) has been associated with an increased risk of autism spectrum disorder (ASD). Studies in rodents have demonstrated that VPA exposure during the first trimester-equivalent period of gestation results in a lifelong autistic-like phenotype. A growing body of evidence suggests that VPA exposure may be a risk factor for ASD beyond the first trimester of pregnancy. Here, we investigated in adolescent Swiss mice the neurobehavioural effects of exposure to VPA during the brain growth spurt, a period that encompasses the third trimester of human gestation. Offspring received ip injections of VPA (200 mg/kg) or saline solution (NaCl 0.9%) on alternate days, from Postnatal Day 2 (PN2) to PN8. Animals were behaviourally tested either as juveniles (PN12: sociability [aggregation]) or adolescents (PN30: anxiety-like behaviour [elevated plus maze], locomotor activity [open field], repetitive behaviour [marble burying] and sociability [reciprocal social interaction and three-chamber test]). At PN33, serotonin serum levels and frontal cortical norepinephrine, dopamine and DOPAC were evaluated by HPLC. No differences were observed at PN12. Adolescent VPA mice showed increased anxiety-like behaviour, hyperactivity and reduced repetitive behaviour. Lower sociability was identified in the reciprocal social interaction. However, in the three-chamber test, social behaviour was higher in the VPA group. It also showed higher serotonin, but no other neurotransmitter level effects were observed. The results support the idea that the period of brain growth spurt may be relevant for the manifestation of neurobehavioural deficits associated with ASD induced by VPA.

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19. McCoy B, Bell L, Wang K, Jin H, Hassiotis A, Strydom A, Downs J, Carter B, Shetty H, Stewart R, Ali A, Sheehan R. Investigating the use and impact of community Care (Education) and Treatment Reviews (C(E)TRs) in people with intellectual disability and autistic people: protocol for a cohort study using electronic health records. BMJ Open. 2025; 15(9): e107889.

INTRODUCTION: Care (Education) and Treatment Reviews (C(E)TRs) are intended to reduce unnecessary psychiatric hospital admission and length of stay for people with intellectual disability and autistic people. The use and impact of C(E)TRs have not been systematically evaluated since their introduction in England in 2015. The aims of this study are to describe the demographic and clinical profiles of people who receive a community C(E)TR and to investigate their effects on admission, length of hospital stay and clinical and functional change. METHODS AND ANALYSIS: We will conduct a retrospective cohort study using de-identified data from electronic health records derived from two large National Health Service mental health providers in London, England, including one replication site. Data will be extracted using the Clinical Record Interactive Search (CRIS) tool for all people with recorded intellectual disability and/or autism who received mental healthcare from 2015. We will identify community C(E)TR events using keyword searches. Community C(E)TRs will be examined in two ways: (1) In a community cohort, we will capture data in the 6-month periods before and after a community C(E)TR and compare this to a matched control group and (2) In a hospital cohort, we will compare groups who did and did not receive a community C(E)TR prior to their admission. We will describe the socio-demographic and clinical profiles of each group and their health service use, and compare C(E)TR and no C(E)TR groups using t-tests (or a non-parametric equivalent). The primary outcomes are admission to a psychiatric hospital (community cohort) and length of psychiatric hospital admission and clinical change (hospital cohort). Admission to psychiatric hospital will be estimated using propensity score weighting and difference-in-differences methods. Cox’s proportional hazard model will be used for length of hospital admission and repeated-measures analysis of variance (ANOVA) will be used to assess clinical change. ETHICS AND DISSEMINATION: Use of CRIS to examine de-identified clinical data for research purposes has overarching ethical approval. This study has been granted local approval by the South London and Maudsley CRIS Oversight Committee. Findings will be disseminated in an open-access peer-reviewed academic publication, at conference presentations, and to service users and carers in accessible formats.

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20. Milhem-Midlej T, Szpiro SFA. Can video prompting be used to teach employment skills to older adults with moderate to moderate-severe intellectual developmental disabilities?. Res Dev Disabil. 2025; 166: 105112.

BACKGROUND: Being employed gives people with intellectual developmental disabilities (IDDs) a daily routine and helps them develop a range of physical, cognitive, and social skills, along with a sense of independence, but many have difficulty integrating into the work force. Assistive technologies may support employment but research on their efficacy is scarce. The study examined the impact of using video prompting on the ability of older adults with IDD to learn two new employment-related tasks. METHOD: In this single-subject study design, we examined six adult participants (over age 50) with IDD, asking whether viewing video prompts on a tablet could help them learn novel work-related duties. We compared the completion of steps in these work tasks before the intervention, during the intervention (with prompts), and after the intervention (with no prompts). RESULTS: All participants showed the ability to learn. Accuracy in follow-up was better than in the baseline sessions, albeit with some variability: three performed the tasks correctly in follow-up when they were not given prompts, but the accuracy of the remaining three participants dropped, suggesting the utility of longer interventions. CONCLUSIONS: Video prompts may promote active aging and independence in older adults with IDD by teaching new work skills.

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21. Mishra JS, Bhamidipati SK, Ross JR, Dangudubiyyam SV, Samanta J, Kumar S. Elevated maternal testosterone induces sex-specific neurodevelopmental changes and ASD-related behavioral phenotypes in rat offspring. Pediatr Res. 2025.

OBJECTIVE: Elevated maternal testosterone (T) during pregnancy disrupts neurodevelopment and behavior in offspring, mimicking features of autism spectrum disorder (ASD). METHODS: In a rat study, dams received daily T injections (0.5 mg/kg) from gestational days 12-20, doubling maternal plasma T to mimic levels seen in pregnancy complications. Controls received vehicle. Offspring were assessed neonatally (postnatal day 9) for communication (ultrasonic vocalizations), neurogenesis (NeuN+ neurons), myelination (MBP+ area), and brain docosahexaenoic acid (DHA). Adolescent offspring (6-8 weeks) underwent behavioral tests for cognition (Y-maze, novel object recognition) and sociability (three-chamber test). RESULTS: T-exposed pups had lower birth weights and reduced vocalizations during maternal separation. Sex-specific neural changes observed: males showed reduced cortical neuron density, while females had diminished corpus callosum myelination. Both sexes exhibited decreased brain DHA. In adolescence, T offspring displayed cognitive deficits (impaired spatial/recognition memory) and social impairments (reduced sociability and social novelty preference). CONCLUSION: The study highlights maternal T as a risk factor for neurodevelopmental disorders, with sex-specific effects on brain structure and function. Reduced brain DHA suggests a mechanistic link, implicating lipid metabolism in T-associated neurodevelopmental disruptions. These findings support further exploration of DHA supplementation as a therapeutic strategy to mitigate adverse outcomes in high-risk pregnancies. IMPACT: Elevated maternal testosterone (T) during pregnancy induces ASD-like neurobehavioral deficits (e.g., impaired communication, social/cognitive dysfunction) and sex-specific neural alterations in offspring. Prenatal T differentially impacts male vs. female brain structure: T-exposed males show cortical neuron loss, while females exhibit myelination deficits in the corpus callosum. First to connect maternal T-driven offspring brain docosahexaenoic acid (DHA) reduction to neurodevelopmental impairment. Supports prenatal DHA supplementation as a strategy to mitigate neurodevelopmental risks in high-T pregnancies. Informs policies addressing rising neurodevelopmental disorder rates linked to maternal metabolic/endocrine imbalances.

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22. Moussaoui D, Crofts VL, Héritier-Barras AC, Agoritsas T, Merglen A, Yaron M. « Changeons les Règles! » development and feasibility testing of an encounter decision aid for menstrual management in adolescents and young adults with developmental disabilities. PEC Innov. 2025; 7: 100430.

OBJECTIVES: To report the developing process and acceptability testing of a decision aid designed for adolescents and young adults with developmental disabilities, focusing on treatment options for menstrual management. METHODS: We developed a paper-based encounter decision aid to support shared decision-making about treatment options for menstrual management for adolescents and young adults with developmental disabilities. This tool was designed to be both evidence-based and user-centered. We conducted a feasibility study to assess its acceptability. RESULTS: The decision aid was used during consultations with 18 adolescents and young adults with developmental disabilities and their caregivers. Participants reported high levels of acceptability and found the tool helpful in facilitating decision-making. They particularly valued the ability to compare treatment options side by side. The tool also promoted meaningful conversations between patients and clinicians. CONCLUSIONS: The decision aid was well-accepted and successfully facilitated the discussion about menstrual management options between patients and clinicians. Further research is needed to evaluate its long-term impact on decision making outcomes and patient satisfaction. INNOVATION: This innovative tool may support shared decision-making for adolescents and young adults with developmental disabilities and their caregivers, and provide additional insight on how to engage individuals with developmental disabilities in healthcare decisions.

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23. Oakley B, Canitano R, López-Zamora M, Mazzoni N. Editorial: Advancing interventions and therapeutic outcomes for autistic youth: a multidisciplinary perspective. Front Child Adolesc Psychiatry. 2025; 4: 1697025.

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24. Olaguez-Gonzalez JM, Chairez I, Breton-Deval L, Alfaro-Ponce M. In-silico assessment of dynamic symbiotic microbial interactions in a reduced microbiota related to the autism spectrum disorder symptoms. Comput Struct Biotechnol J. 2025; 27: 4078-88.

The gut microbiota plays a crucial role in human health, with growing evidence linking its composition to the development of Autism Spectrum Disorder. However, inconsistencies in previous studies have hindered the identification of a definitive microbial signature associated with Autism Spectrum Disorder. Machine learning models have emerged as powerful tools for analyzing microbiome data, yet their interpretability remains limited. In this study, we integrate in silico simulations with machine learning predictions to explore microbial interactions under different dietary conditions and provide biological context to features of the intestinal microbiota that are linked to Autism Spectrum Disorder. This study employs constraint-based modeling to simulate metabolic exchanges among key bacterial taxa in order to assess their ecological relationships. Findings reveal that high-fiber diets foster mutualistic and balanced interactions, whereas Western-style diets promote competitive and parasitic dynamics, potentially contributing to gut dysbiosis in Autism Spectrum Disorder. In addition, the presence of oxygen (a factor associated with colonocyte permeability, a pathological condition of the colon) significantly alters microbial interactions, influencing metabolic dependencies and the overall structure of the community. This integrative approach enhances the interpretability of machine learning-based Autism Spectrum Disorder classifiers, bridging computational predictions with mechanistic insights. By identifying diet-dependent microbial interactions, our study highlights potential dietary interventions to modulate the composition of the gut microbiota in Autism Spectrum Disorder. These findings underscore the value of combining in silico modeling and machine learning for unraveling complex microbiome-host relationships and improving Autism Spectrum Disorder biomarker identification.

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25. Quintero J, Rodríguez-Quiroga A, Medina J, Galvez-Fernandez M, Nuevo J, Ruiz C, Sánchez E, Alonso V, Pérez Domínguez A. A survey of knowledge and perceptions of ADHD and autism spectrum disorder in the workplace at a large corporation. Sci Rep. 2025; 15(1): 34424.

Neurodevelopmental conditions, such as attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD), affect millions globally and are often misunderstood in professional environments. Embracing neurodiversity is essential for inclusivity and leveraging the unique strengths of these individuals. This study evaluated employees’ knowledge and perceptions of neurodiversity, focusing on ADHD and autism in large corporations, to identify knowledge gaps and propose strategies to create more inclusive workplaces. Cross-sectional survey of 880 employees from AstraZeneca and Alexion in Spain was conducted in July 2024. It assessed knowledge of ADHD and autism, perceptions of working with neurodivergent individuals, and preferences for educational interventions. Data were collected via self-administered questionnaire and analyzed descriptively and analyzed using descriptive statistics to summarize frequencies, proportions, and central tendency measures. Awareness of ADHD (98.9%) and autism (98.1%) was high, but misconceptions persisted, with ~ 20% misidentifying intellectual disability as a symptom of autism, and restricted interests as a sign of ADHD. Comfort with potentially working with neurodivergent colleagues was rated 7.4/10, yet 60.6% felt that workplaces were inadequately adapted. Preferred educational approaches included school talks (87.5%) and social media (67.6%). Despite positive attitudes, knowledge gaps regarding neurodevelopmental disorders persist. Targeted interventions are essential to emphasize the strengths of neurodivergent individuals and foster adaptable, supportive workplaces that promote inclusivity and innovation.

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26. Rothe J, Thiel T, Roessner V, Ring M. The impact of the COVID-19 pandemic on the well-being of autistic and non-autistic adults in Eastern Germany. BMC Psychiatry. 2025; 25(1): 915.

BACKGROUND: Autistic individuals often experience significant difficulties adapting to even slight changes in their routines. The COVID-19 pandemic created an uncertain situation marked by frequent changes in daily life, though some pressures of everyday life were reduced during this time. The few existing studies on mental health in autistic individuals during the COVID-19 pandemic have identified a link between pandemic-related distress and increases in symptoms of anxiety and depression. The present study aimed to compare the impact of pandemic-related restrictions on daily life and psychopathological symptoms between groups of autistic and non-autistic adults and to determine whether these variables are interrelated. Furthermore, the study examined potential predictors of psychopathological symptoms during the pandemic. METHODS: A sample of 86 East German autistic adults aged 18-67 years (21 female, M(age) = 33.49 years, SD(age) = 13.32) and 87 non-autistic adults aged 18-70 years (21 female, M(age) = 34.37 years, SD(age) = 14.18) completed self-report questionnaires addressing autism-like traits, the impact of pandemic-related restrictions on daily life, psychopathological symptoms, sensory sensitivity and Intolerance of Uncertainty (IoU). The 7-day incidence rate, pandemic duration, and the scope of social restrictions at the time of the survey were considered individually for each participant. RESULTS: Regarding pandemic-related restrictions, the reduction in social contacts and restrictions on freedom of travel were most relevant for both groups while non-autistic adults reported that they were affected more severely compared to autistic adults. Retrospective self-ratings of changes in overall physical and mental health did not differ between the two groups. Consistent with pre-pandemic evidence, autistic adults reported higher sensory sensitivity and greater IoU compared to non-autistic adults. However, sensory exposure due to face coverings affected both groups similarly. Sensory sensitivities and IoU were the most relevant predictors of psychopathological symptoms in both groups, although changes in overall physical health also emerged as a predictor for autistic adults. CONCLUSIONS: The relation between pandemic-related restrictions and the predictors of psychopathological symptoms differed somewhat between groups. Although it is known that autistic individuals show higher levels of sensory sensitivity and IoU in general, autistic adults appeared to be less affected by certain pandemic-related restrictions than anticipated.

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27. Ruggieri V. [Autism. Therapeutic approach and scientific evidence]. Medicina (B Aires). 2025; 85 Suppl 4: 16-21.

Autism is a neurodevelopmental disorder characterized by a qualitative alteration in social interaction and communication, associated with restricted interests and stereotyped behaviors. Before 3 years old, it can be inferred by the lack of social and communicative intention, stereotyped behaviors, poor response to being called by name, poor eye contact, absence of language and inadequate sensory responses. It is often associated with other neurodevelopmental disorders (attention deficit hyperactivity disorders, language disorders, intellectual disability, motor clumsiness), neuropsychiatric disorders (depression, suicidal ideation, schizophrenia, bipolarity, catatonia, behavioral disorders), epilepsy and/or sleep disorders. This condition continues throughout their lives, with variations in its evolution. Therapeutic approaches, with scientific evidence, are complex given that they depend on many factors such as age, sex, environment, objectives, associated conditions andunderlying neurogenetic etiology, which can allow the recognition of certain characteristic cognitive and behavioral phenotypes which will facilitate faster intervention. In this work, therapeutic approaches of proven usefulness from childhood to adulthood, prioritizing those that improve communication, socialization, language, inappropriate behaviors and work and social inclusion, were analyzed.

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28. Salarfard M, Khadivzadeh T, Moghri J, Mirzakhani K. Exploring the childbearing decision-making process in mothers of children with autism spectrum disorder and designing and validation of a childbearing program: A study protocol. Reprod Health. 2025; 22(1): 178.

BACKGROUND: One of the most important demographic challenges in the world over the last three decades has been the significant decline in fertility rates. Fertility decision making is one of the major events in a couple’s life and can be a complex process, especially for families who have a child with a history of a multifactorial disease, such as autism spectrum disorder. Therefore, the present study will be aim to discover the childbearing decision-making process in mothers of children with autism spectrum disorder and design and validate a childbearing program for this mothers. METHODS: The present study will be conducted in three phases. In the first stage, a qualitative research will be conducted using the Strauss and Corbin grounded theory approach. In this study, the main participants are mothers who have at least one autistic child, who meet the inclusion criteria for the study. In the first phase, sampling will be done with purposive and theoretical method. The date will be gathered through semi-structured in-depth interviews, field notes, and observations of individual interactions. The Strauss and Corbin 2015 approach will be used to analyze the data. MAXQDA 2020 software will be used for managing the process of data analysis. In the second phase of the present study, a program using a logic model will be designed to support decision-making regarding childbearing among mothers of children with autism. Finally, validation of the developed program will be achieved by using the nominal group technique with a panel of experts during the third phase. DISCUSSION: In this research, as a result of the needs, challenges and problems of mothers of children with autism spectrum disorder in the context of their decision to have children, a supportive program will be presented using a logical model that is suitable for policy makers, planners and service providers to be implemented in the socio-cultural context of the study.

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29. Souza R, Dos Santos LC. Development and behavior screening of 4-year-old Brazilian children: prevalence and associated factors. J Trop Pediatr. 2025; 71(5).

Early identification of developmental and behavioral delays could improve child’s health in the long term. The aim was to determine the prevalence and explore the associated factors with child development and behavior. A cross-sectional study was carried out with Brazilian children aged 4 years old and their respective caregivers. Child’s development and behavior were assessed using the Brazilian screening tool version of the Survey of Well-being of Young Children. Generalized linear models were used to analyze the associations between explicative variables and outcomes. Prevalence of suspected development delay was 28.0% and behavior problems was 39.5%. Children sex, school period, daily reading, and behavior domain were associated with development domain, while sleeping time, development domain, food insecurity, and ultraprocessed food score were associated with behavior domain. It is necessary to encourage the expansion of screening instruments in daily primary health-care practice, expand professional’s specialization, and improve multisectoral integration.

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30. Sun W, Ma L, Feng X, Fan Y, Cai Y, Li X. Efficacy of gut microbiota-based therapy for autism Spectrum Disorder and attention Deficit Hyperactivity Disorder: a systematic review and meta-analysis. Psychol Health Med. 2025: 1-25.

The gut-brain axis is an emerging therapeutic target for neurodevelopmental conditions such as Autism Spectrum Disorder (ASD) and Attention Deficit Hyperactivity Disorder (ADHD). However, the overall efficacy of gut microbiome-based interventions remains unclear. This systematic review and meta-analysis, following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) 2020 guidelines, aimed to synthesize the evidence on these interventions. Fifteen randomized controlled trials (RCTs) were identified from 1,080 records across PubMed, Embase, Web of Science, Cochrane, PsycInfo, MEDLINE, and ClinicalTrials.gov through August 2024. Interventions included probiotics, prebiotics, dietary changes, and fecal transplants. Using random-effects models, pooled analysis showed a small but significant overall benefit of gut microbiota-based interventions (Standardized Mean Difference, SMD = -0.12; 95% Confidence Interval, CI: -0.19 to -0.04), with low heterogeneity (I(2) = 5.9%). Effects differed by disorder: ADHD demonstrated greater improvement (SMD = -0.24; 95% CI: -0.42 to -0.06; I(2) = 50.4%) compared to ASD (SMD = -0.05; 95% CI: -0.15 to 0.04; I(2) = 0%). Duration-specific effects emerged: 8-week interventions showed significant outcomes (SMD = -0.32; 95% CI: -0.58 to -0.06), while shorter or longer durations lacked significance. Acceptability analysis from eight studies revealed comparable dropout rates between intervention and control groups (ASD: Risk Ratio, RR = 1.002; ADHD: RR = 0.943), with no serious adverse events reported. Subgroup analyses identified participant age, diagnosis type, and geographic location as heterogeneity sources. Despite methodological limitations and small sample sizes, findings suggest gut microbiome modulation may offer a safe adjunctive therapy, particularly for ADHD, with optimal effects emerging at 8 weeks. The gut-brain axis appears promising for neurodevelopmental disorders, but current evidence remains preliminary. Future research should prioritize large-scale RCTs with standardized protocols, mechanistic investigations, and long-term follow-up to establish clinical guidelines and clarify biological pathways. Findings underscore the need to tailor interventions to specific disorders and optimize treatment duration.

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31. Tucker-Drob EM. Early- and late-diagnosed autism are genetically distinct. Nature. 2025.

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32. Wang Q, Jia S, Ding F, Wang X, Si Y, Wang X, Sun J. Effect of fundamental movement skills practice on executive function and social interaction ability in children with moderate autism: a randomized controlled trial. BMC Complement Med Ther. 2025; 25(1): 354.

OBJECTIVE: To investigate the effects of practicing fundamental movement skills (FMS) on executive function and social interaction abilities in children with moderate autism. METHODS: A randomized controlled experimental design was employed. Twenty-five children with moderate autism were randomly assigned to either an experimental group or a control group. The experimental group received the FMS intervention, while the control group continued with their regular daily routine without intervention. The intervention was conducted over 18 weeks, with sessions held four times per week, each lasting 45 min at a moderate intensity. Executive function and social interaction abilities were assessed in both groups before and after the intervention. RESULTS: Social interaction abilities, as measured by the SRS-2 scores and its sub-dimensions, showed significant improvement (P < 0.05). In terms of executive function, significant improvements were observed in the Behavior Rating Inventory of Executive Function (BRIEF) scale scores, specifically in inhibition, shifting (cognitive flexibility), emotional control, and working memory (P < 0.05). However, there were no significant improvements in initiation, planning, organization, or monitoring functions (P > 0.05). CONCLUSION: The FMS intervention led to improvements in both social interaction abilities and executive function in children with autism spectrum disorder. However, the improvement in executive function was selective, with certain sub-dimensions showing significant gains while others did not. This study underscores the value of cross-modal interventions that bridge motor skill development and socioemotional learning, providing a foundation for future hybrid paradigms integrating FMS and dance movement therapy (DMT)principles. TRIAL REGISTRATION: The study protocol, based on a true experimental design, was registered with ClinicalTrials.gov (registration number ChiCTR2400087989) on August 8, 2024.

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33. Wang W, Liu Y, Shi P, Zhang J, Wang G, Li Y, Liu W, Ming D. Altered tactile abnormalities in children with ASD during tactile processing and recognition revealed by dynamic EEG features. Front Psychiatry. 2025; 16: 1611438.

INTRODUCTION: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by sensory processing abnormalities, particularly in tactile perception, highlighting the need for objective screening methods beyond current subjective behavioral assessments. METHODS: This study developed a portable electro-tactile stimulation system with EEG to evaluate tactile processing differences in children with ASD (n=36) versus typically developing controls (n=36). RESULTS: Revealing significantly reduced ERP amplitudes at key processing stages: P200 at FP2 (F(1,70)=10.82, p=0.0454), N200 at F3 (F(1,70)=58.33, p<0.0001), and P300 at C4 (F(1,70)=45.62, p<0.0001). Topographic analysis identified pronounced group differences (>10ìV) across frontal, central, and parietal regions (F8, FC5/6, CP1/2/5/6, Pz, Oz), with ASD children exhibiting prolonged but less efficient tactile discrimination and compensatory prefrontal activation (FP2 CV: p=0.043). The paradigm demonstrated strong reliability (CV ICC: ASD=0.779, TD=0.729) and achieved 85.2% classification accuracy (AUC=0.91) using ANN, with optimal performance from F8 P300 features (sensitivity=87.5%, specificity=83.7%). DISCUSSION: These findings provide an objective, efficient (15-minute) screening method that advances understanding of tactile processing abnormalities in ASD and supports the development of physiological biomarkers for early identification, overcoming limitations of questionnaire-based approaches.

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34. Wu C, Lu J, Wang Y, Zong J, Fan M, Yang Y, Wang S. Tongue-coating microbiota as a predictive biomarker of washed microbiota transplantation efficacy in pediatric autism: integration with clinical features. J Transl Med. 2025; 23(1): 1037.

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35. Yaylaci M, Dogan O, Kirşan FZ, Oztop DB. An Investigation of the Levels of Serine Protease and Associated Molecules in Children with Autism Spectrum Disorder. J Mol Neurosci. 2025; 75(4): 134.

This study aimed to elucidate the potential role of serine proteases and their associated regulatory molecules in the etiopathogenesis of autism spectrum disorder (ASD) and to assess their relationship with symptom severity and specific behavioral domains in children diagnosed with ASD. A cross-sectional design was employed, including 44 children aged 2 to 6 years with a confirmed diagnosis of ASD and 43 age- and sex-matched typically developing children as controls. Behavioral assessments were conducted using the Childhood Autism Rating Scale (CARS), the Autism Behavior Checklist (ABC), and the Repetitive Behavior Scale-Revised, Turkish Version (RBS-R-TV). Serum concentrations of motopsin, agrin, C-terminal agrin fragment (CAF), tissue plasminogen activator (tPA), neuroserpin, and plasminogen activator inhibitor-1 (PAI-1) were determined using enzyme-linked immunosorbent assay (ELISA). Serum levels of all analyzed molecules were significantly reduced in the ASD group compared to controls (p < 0.05 for all). Although no significant associations were observed between total ASD severity scores and biomarker concentrations, notable correlations emerged between specific behavioral subdomains and select biomarkers. Motopsin levels exhibited a moderate positive correlation with the "imitation" subdomain of CARS and the "sensory" subdomain of ABC. Conversely, agrin levels demonstrated moderate inverse correlations with "listening response," "taste-smell-touch response and use," and "activity level" subdomains of CARS. PAI-1 levels showed a significant negative correlation with the "self-injurious behavior" subdomain of RBS-R-TV. The findings suggest that serine proteases and their modulators implicated in synaptic remodeling and neuroplasticity may contribute to the underlying neurobiological mechanisms of ASD. The observed domain-specific associations support the hypothesis that ASD comprises heterogeneous neurodevelopmental trajectories, and that peripheral biochemical markers reflecting these pathways may aid in the identification of ASD subtypes and guide personalized therapeutic strategies.

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36. Zhang X, Grove J, Gu Y, Buus CK, Nielsen LK, Neufeld SAS, Koko M, Malawsky DS, Wade EM, Verhoef E, Gui A, Hegemann L, Geschwind DH, Wray NR, Havdahl A, Ronald A, St Pourcain B, Robinson EB, Bourgeron T, Baron-Cohen S, Børglum AD, Martin HC, Warrier V. Polygenic and developmental profiles of autism differ by age at diagnosis. Nature. 2025.

Although autism has historically been conceptualized as a condition that emerges in early childhood(1,2), many autistic people are diagnosed later in life(3-5). It is unknown whether earlier- and later-diagnosed autism have different developmental trajectories and genetic profiles. Using longitudinal data from four independent birth cohorts, we demonstrate that two different socioemotional and behavioural trajectories are associated with age at diagnosis. In independent cohorts of autistic individuals, common genetic variants account for approximately 11% of the variance in age at autism diagnosis, similar to the contribution of individual sociodemographic and clinical factors, which typically explain less than 15% of this variance. We further demonstrate that the polygenic architecture of autism can be broken down into two modestly genetically correlated (r(g) = 0.38, s.e. = 0.07) autism polygenic factors. One of these factors is associated with earlier autism diagnosis and lower social and communication abilities in early childhood, but is only moderately genetically correlated with attention deficit-hyperactivity disorder (ADHD) and mental-health conditions. Conversely, the second factor is associated with later autism diagnosis and increased socioemotional and behavioural difficulties in adolescence, and has moderate to high positive genetic correlations with ADHD and mental-health conditions. These findings indicate that earlier- and later-diagnosed autism have different developmental trajectories and genetic profiles. Our findings have important implications for how we conceptualize autism and provide a model to explain some of the diversity found in autism.

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37. Zhang Y, Yahia A, Sandin S, Åden U, Tammimies K. Prematurity and genetic liability for autism spectrum disorder. Genome Med. 2025; 17(1): 108.

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by diverse presentations and a strong genetic component. Environmental factors, such as prematurity, have also been linked to increased liability for ASD, though the interaction between genetic predisposition and prematurity remains unclear. This study aims to investigate the impact of genetic liability and preterm birth on ASD conditions. METHODS: We analyzed phenotype and genetic data from two large ASD cohorts, the Simons Foundation Powering Autism Research for Knowledge (SPARK) and Simons Simplex Collection (SSC), encompassing 78,559 individuals for phenotype analysis, 12,519 individuals with genome sequencing data, and 8104 individuals with exome sequencing data. Statistical significance of differences in clinical measures was evaluated between individuals with different ASD and preterm status. We assessed the rare variants burden using generalized estimating equations (GEE) models and polygenic load using the ASD-associated polygenic risk score (PRS). Furthermore, we developed a machine learning model to predict ASD in preterm children using phenotype and genetic features available at birth. RESULTS: Individuals with both preterm birth and ASD exhibit more severe phenotypic outcomes despite similar levels of genetic liability for ASD across the term and preterm groups. Notably, preterm-ASD individuals showed an elevated rate of de novo variants identified in exome sequencing (GEE model, p = 0.005) in comparison to non-ASD-preterm group. Additionally, a GEE model showed that a higher ASD PRS, preterm birth, and male sex were positively associated with a higher predicted probability for ASD in SPARK, reaching a probability close to 90%. Lastly, we developed a machine learning model using phenotype and genetic features available at birth with limited predictive power (AUROC = 0.65). CONCLUSIONS: Preterm birth may exacerbate multimorbidity present in ASD, which was not due to ASD-associated genetic variants. However, increased ASD-associated rare variants may elevate the likelihood of a preterm child being diagnosed with ASD. Additionally, a polygenic load of ASD-associated variants had an additive role with preterm birth in the predicted probability for ASD, especially for boys. Future integration of genetic and phenotypic data in larger preterm or population-based cohorts will be crucial for advancing early ASD identification in preterm subgroup.

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