Pubmed du 25/06/25

Pubmed du jour

1. Alpuche De Lille MJ, da Teixeira da Silva R, Smythe T. School-based mental health and psychosocial support interventions for children and adolescents with developmental disabilities in low- and middle-income countries: A systematic review. Trop Med Int Health. 2025.

OBJECTIVES: To identify and evaluate the characteristics and reported effects of school-based mental health and psychosocial support interventions targeting children and adolescents with neurodevelopmental disorders (NDDs) in low- and middle-income countries, as well as those involving their parents, teachers or peers. METHODS: A systematic search of MEDLINE, EMBASE, ERIC, Global Health and PsycINFO was conducted in October 2024. Eligible studies included randomised controlled trials, quasi-experimental and qualitative research on school-based interventions in low- and middle-income countries for children and adolescents with NDDs (including attention deficit hyperactivity disorder [ADHD], autism, intellectual disabilities, epilepsy, cerebral palsy and foetal alcohol syndrome), as well as those involving their caregivers, teachers or peers. Only studies published in English, Spanish or Portuguese were included. A narrative synthesis was performed. RESULTS: A total of 2158 titles were screened, with 29 studies from 13 countries included. Most studies used a quasi-experimental design (n = 19, 66%). Nearly half focused on children and adolescents with NDDs only (n = 14, 48%), with intellectual disabilities being the most targeted condition (n = 12, 34%), followed by autism (n = 8, 23%) and ADHD (n = 8, 23%). Intervention strategies included multimodal approaches (n = 6, 21%) and educational workshops (n = 6, 21%). Targeted outcomes were social skills (n = 7, 16%) and knowledge attitudes and practice (n = 5, 12%). Lifelong learning (n = 11, 33%) and educational system-strengthening interventions (n = 10, 31%) were the primary content areas. The majority of studies exhibited a moderate to high risk of bias. CONCLUSIONS: Schools offer strategic platforms for delivering mental health and psychosocial support interventions to children and adolescents with NDDs in low- and middle-income countries, involving families, teachers and peers. While improvements in social skills and knowledge, attitudes and practices were reported, heterogeneity and methodological limitations constrain the generalisability of findings. Future research should address long-term impacts and expand to underrepresented conditions.

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2. Barton C, Anand G, Hoffman J. Expedited workflow for autism spectrum disorder in a pediatric genetics clinic. J Community Genet. 2025.

With increasing demand for access to genetic services and the American College of Medical Genetics and Genomics’ (ACMG) recommendation that individuals with autism spectrum disorder (ASD) and developmental delay be offered genetic evaluation, alternative service models for genetic care are needed to increase efficiency. Web-based tools have enhanced access to clinical genetics content and services, particularly for patients with common referral indications such as ASD. The Boston Medical Center pediatric genetics clinic reports on the creation of an Expedited ASD Genetics Clinic (EAGC) which includes a waiting room questionnaire, educational video, physical examination, and blood work for genetic testing. The educational video, created in English and Spanish, mirrors the genetic testing educational content of a typical genetics visit for ASD. As the EAGC allows for more patients to be seen per clinic session, the number of visits with ICD-10 F84.0 (ASD) increased from 18 patients seen October to December 2022 to 32 patients seen October to December 2023. There was also a significant decrease between the number of days from referral to first offered appointment date for the patients with ASD seen in the EAGC compared to all new patients, regardless of referral reason, seen October to December 2022 ([Formula: see text]). This decreased wait time for an appointment for ASD-related genetic testing increases access to genetics services for this patient population.

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3. Belenska-Todorova L, Zamfirov M, Todorov T, Atemin S, Sleptsova M, Pavlova Z, Kadiyska T, Maver A, Peterlin B, Todorova A. Exome Study of Single Nucleotide Variations in Patients with Syndromic and Non-Syndromic Autism Reveals Potential Candidate Genes for Diagnostics and Novel Single Nucleotide Variants. Cells. 2025; 14(12).

Autism spectrum disorder (ASD) is a neurodevelopmental impairment that occurs due to mutations related to the formation of the nervous system, combined with the impact of various epigenetic and environmental factors. This necessitates the identification of the genetic variations involved in ASD pathogenesis. We performed whole exome sequencing (WES) in a cohort of 22 Bulgarian male and female individuals showing ASD features alongside segregation analyses of their families. A targeted panel of genes was chosen and analyzed for each case, based on a detailed examination of clinical data. Gene analyses revealed that specific variants concern key neurobiological processes involving neuronal architecture, development, and function. These variants occur in a number of genes, including SHANK3, DLG3, NALCN, and PACS2 which are critical for synaptic signaling imbalance, CEP120 and BBS5 for ciliopathies, SPTAN1 for spectrins structure, SPATA5, TRAK1, and VPS13B for neuronal organelles trafficking and integrity, TAF6, SMARCB1, DDX3X, MECP2, and SETD1A for gene expression, CDK13 for cell cycle control, ALDH5A1, DPYD, FH, and PDHX for mitochondrial function, and PQBP1, HUWE1, and WDR45 for neuron homeostasis. Novel single nucleotide variants in the SPATA5, CEP120, BBS5, SETD1A, TRAK1, VPS13B, and DDX3X genes have been identified and proposed for use in ASD diagnostics. Our data contribute to a better understanding of the complex neurobiological features of autism and are applicable in the diagnosis and development of personalized therapeutic approaches.

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4. Cheng L, Wang X, Mao H, Liu Y, Yuan W, Wang P, Hou N, Peng Y. Influence of Salience on Neural Responses in Metaphor Processing of Chinese Children with Autism: Evidence from ERPs. J Autism Dev Disord. 2025.

This study, grounded in the Graded Salience Hypothesis (GSH), utilizes Event-Related Potentials (ERPs) to explore metaphor processing mechanisms in 24 Chinese children with Autism Spectrum Disorder (ASD) aged 5-12 years, compared with 37 age-matched typically developing (TD) peers. Employing a 2 (Group: ASD vs. TD) × 2 (Sentence Type: Metaphor vs. Literal) × 2 (Salience: High vs. Low) factorial design, we examined neural responses to 48 validated Chinese sentences (balanced for high/low-salience metaphor-literal sentence contrasts) while controlling lexical complexity and syntactic structure. Through linear mixed-effects modeling, the study reveals three key findings: (1) ASD children exhibited reduced P200 amplitudes (150-250 ms) for metaphors compared to literal sentences, indicating impaired early salience-driven attention; (2) Attenuated N400 responses (300-500 ms) to both sentence types in ASD versus TD groups, reflecting context-independent semantic integration deficits; (3) No group differences in Late Positive Component (LPC) (600-1000 ms), suggesting comparable late-stage pragmatic evaluation. These results provide the first neurophysiological evidence for GSH in ASD, demonstrating that salience gradients critically modulate early metaphor processing stages. The findings highlight developmental divergence in ASD children’s reliance on salience-based prioritization, offering mechanistic insights for designing metaphor comprehension interventions tailored to salience hierarchies.

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5. Collins E, Edjoc R, Farrow A, Dharma C, Georgiades S, Holmes K, Orchard C, O’Donnell S, Palmeter S, Salt M, Al-Jaishi A. Prevalence of autism among adults in Canada: results from a simulation modelling study. BMJ Open. 2025; 15(6): e089414.

OBJECTIVE: To estimate the prevalence of autism among adults living in Canada. DESIGN: A Monte Carlo simulation modelling approach was employed. Input parameters included adult population estimates and mortality rates; autism population all-cause mortality risk ratios; and autism prevalence estimates derived from child and youth data due to the lack of adult data. This approach was executed through 10 000 simulations, with each iteration generating a distinct data scenario. Prevalence estimates were reported as the mean with the 2.5th and 97.5th percentiles, corresponding to a 95% simulation interval (SI). SETTING: Where possible, Canadian data sources were used, including the 2019 Canadian Health Survey on Children and Youth and Statistics Canada mortality rates and population estimates. PRIMARY OUTCOME MEASURE: National prevalence estimates of autistic adults living in private dwellings in Canada, with variations in prevalence by sex at birth and province/territory considered. RESULTS: The findings suggest the prevalence of autism among adults in Canada to be 1.8% (95% SI 1.6%, 2.0%). National prevalence estimates by sex at birth were 0.7% (95% SI 0.6%, 0.9%) for females and 2.9% (95% SI 2.6%, 3.2%) for males. Provincial/territorial estimates ranged from 0.7% in Saskatchewan (95% SI 0.3%, 1.3%) to 3.6% in New Brunswick (95% SI 2.4%, 5.1%). CONCLUSIONS: The limited availability of data on autistic adults constrains our ability to fully understand and address their unique needs. In this study, autism prevalence was estimated based on diagnosed cases, which excludes individuals without a formal diagnosis. Additionally, other factors such as data availability and methodological assumptions may influence the modelling of prevalence estimates. As a result, our findings should be interpreted within the context of these limitations. Nevertheless, this study provides a valuable reference point for understanding autism prevalence among adults in Canada.

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6. Dervishi A. A Systems Hypothesis of Lipopolysaccharide-Induced Vitamin Transport Suppression and Metabolic Reprogramming in Autism Spectrum Disorders: An Open Call for Validation and Therapeutic Translation. Metabolites. 2025; 15(6).

Background: Autism spectrum disorder (ASD) is increasingly linked to systemic metabolic dysfunction, potentially influenced by gut-brain axis dysregulation, but the underlying mechanisms remain unclear. Methods: We developed Personalized Metabolic Margin Mapping (PM(3)), a computational systems biology framework, to analyze RNA-seq data from 12 ASD and 12 control postmortem brain samples. The model focused on 158 curated metabolic genes selected for their roles in redox balance, mitochondrial function, neurodevelopment, and gut-brain interactions. Results: Using unsupervised machine learning (Isolation Forest) to detect outlier expression patterns, Euclidean distance, and percent expression difference metrics, PM(3) revealed a consistent downregulation of glycolysis (e.g., -5.4% in PFKM) and mitochondrial enzymes (e.g., -12% in SUCLA2). By incorporating cofactor dependency and subcellular localization, PM(3) identified a coordinated suppression of multivitamin transporters (e.g., -4.5% in SLC5A6, -3.5% in SLC19A2), potentially limiting cofactor availability and compounding energy deficits in ASD brains. Conclusions: These findings suggest a convergent metabolic dysregulation signature in ASD; wherein the subtle suppression of cofactor-dependent pathways may impair energy metabolism and neurodevelopment. We propose that chronic microbial lipopolysaccharide (LPS) exposure in ASD suppresses vitamin transporter function, initiating mitochondrial dysfunction and transcriptomic reprogramming. Validation in LPS-exposed systems using integrated transcriptomic-metabolomic analysis is warranted.

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7. Doğan Keskin A, Öztürk N, Kaytez N, Aral N, Elibol F. Validity and reliability study of the Turkish version of the autism spectrum knowledge scale. Acta Psychol (Amst). 2025; 258: 105204.

PURPOSE: The prevalence rates of Autism Spectrum Disorder are witnessing a steady increase worldwide, and the numbers for Türkiye are remarkably high. Given the many potential cases that remain undiagnosed, there is a need to enhance the recognition of ASD, by ensuring the general population is kept informed about the condition. Determining the level of knowledge of ASD within the general population is crucial for the development of effective awareness-raising initiatives. However, in Türkiye, there is currently a lack of assessment tools with cross-cultural validity that apply psychometrically sound methods to the measurement of the level of knowledge about ASD within the general population. In the present study we present a validation and reliability study of a Autism Spectrum Knowledge Scale translated for the Turkish context, as an internationally validated instrument for the measurement of knowledge about ASD within the general population. METHODS: This quantitative study included 560 adults aged 18-71 years (M = 32.30, SD = 11.41) from various cities in Türkiye. Data were collected via an online survey using a snowball sampling method. The study employed both Classical Test Theory (CTT) and Item Response Theory (IRT) to comprehensively assess the psychometric properties of the Autism Spectrum Knowledge Scale-General Form (ASKS-GF) in Turkish. Confirmatory Factor Analysis (CFA) was performed using the lavaan package in RStudio, utilizing a tetrachoric correlation matrix and the Weighted Least Squares Mean and Variance-adjusted (WLSMV) estimation method, given the categorical nature of the data. Model fit was evaluated based on the following criteria: χ(2)/df < 3, RMSEA and SRMR <0.08, and CFI and TLI > 0.95. Internal consistency was examined using Cronbach’s alpha and McDonald’s omega coefficients, while test-retest reliability was assessed by administering the scale to a subset of participants after two weeks. Criterion validity was examined by correlating ASKS-GF scores with the Knowledge of Autism Spectrum Disorders Scale. RESULTS: The Autism Spectrum Knowledge Scale-General Form demonstrated strong validity and reliability in Turkish. Confirmatory Factor Analysis confirmed its unidimensional structure with good model fit. Criterion validity was supported by a significant correlation (r = 0.76, p < 0.05) with an established autism knowledge scale. Reliability analyses showed high internal consistency (KR-20 = 0.92) and strong test-retest reliability (r = 0.97, p < 0.05). Group comparisons revealed significant differences based on gender, media exposure, reading habits, and prior education on autism. Item Response Theory analysis confirmed the scale's psychometric strength, with difficulty parameters ranging from -1.095 to 2.252 and a marginal reliability coefficient of 0.84. The scale provides precise measurement at moderate ability levels. Overall, the scale is a valid and reliable tool for assessing autism spectrum knowledge in the general population.

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8. Eilon I, Novogrodsky R. The Comprehension of Cognitive Verbs Among Autistic Children. J Autism Dev Disord. 2025.

Understanding relative certainty and factivity of cognitive verbs (e.g., ‘think’, ‘know’) presents a significant challenge for both typically developing (TD) and autistic children. The first aim of the current study was to examine the understanding of these two aspects of cognitive verbs among autistic children compared to their TD peers. The second aim was to explore cognitive and linguistic capacities related to the development of cognitive verb understanding. 59 autistic and 62 TD children, ages 3 to 10 years, participated in a cross-sectional design that tested the comprehension of cognitive verbs in two tasks: understanding relative certainty and understanding factivity. In addition, children were tested in three tasks that evaluated Theory of Mind (TOM), vocabulary, and syntax. Autistic children had more difficulties than their TD peers in understanding the meaning of relative certainty and factivity of cognitive verbs. This difference was shown in both preschool and school-age children. Moreover, using logistic regression models, we found that age emerged as the sole predictor for comprehending cognitive verbs in TD children. For autistic children, TOM was the exclusive predictor for explaining factivity scores, and no predictor was identified for explaining relative certainty scores. The current research reveals a distinct linguistic difference in the comprehension of cognitive verbs between autistic and TD children. The results emphasize the link between understanding cognitive verbs and TOM abilities in autistic children. These results highlight the importance of focusing on the comprehension of cognitive verbs when assessing the language of autistic children.

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9. Fabio RA, Giannatiempo S, Perina M. Overcoming Challenges in Learning Prerequisites for Adaptive Functioning: Tele-Rehabilitation for Young Girls with Rett Syndrome. J Pers Med. 2025; 15(6).

Background/Objectives: Rett Syndrome (RTT) is a rare neurodevelopmental disorder that affects girls and is characterized by severe motor and cognitive impairments, the loss of purposeful hand use, and communication difficulties. Children with RTT, especially those aged 5 to 9 years, often struggle to develop the foundational skills necessary for adaptive functioning, such as eye contact, object tracking, functional gestures, turn-taking, and basic communication. These abilities are essential for cognitive, social, and motor development and contribute to greater autonomy in daily life. This study aimed to explore the feasibility of a structured telerehabilitation program and to provide preliminary observations of its potential utility for young girls with RTT, addressing the presumed challenge of engaging this population in video-based interactive training. Methods: The intervention consisted of 30 remotely delivered sessions (each lasting 90 min), with assessments at baseline (A), after 5 weeks (B1), and after 10 weeks (B2). Quantitative outcome measures focused on changes in eye contact, object tracking, functional gestures, social engagement, and responsiveness to visual stimulus. Results: The findings indicate that the program was feasible and well-tolerated. Improvements were observed across all measured domains, and participants showed high levels of engagement and participation throughout the intervention. While these results are preliminary, they suggest that interactive digital formats may be promising for supporting foundational learning processes in children with RTT. Conclusions: This study provides initial evidence that telerehabilitation is a feasible approach for engaging young girls with RTT and supporting adaptive skill development. These findings may inform future research and the design of controlled studies to evaluate the efficacy of technology-assisted interventions in this population.

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10. Forcelini CM, Ampese R, de Melo HY, Pasin CPN, Pádua JRD, de Moura ID, Spanholo CB, Hoffmann FE, Diniz JB, Capponi LCZ, Souza L, Zortea M. Psychometric characteristics of the Mini-TEA scale: a screening instrument for autism spectrum disorder in children. J Pediatr (Rio J). 2025.

OBJECTIVE: Early diagnosis of autism spectrum disorder (ASD) is advisable to promote better prognosis. The Mini-TEA scale was conceived as a sensitive screening for ASD among children. The authors aimed to confirm the diagnostic accuracy of the scale in a wider population. METHOD: 279 children from 2.5 to 12 yo were recruited, most of them under evaluation for possible ASD in the APAE of Passo Fundo/RS, as well as children with other diagnoses and normal children. Their parents/relatives answered the 48 binary questions (yes/no) of the Mini-TEA scale, divided into 15 items, which resulted in a score from 0 to 15. After that, the children were evaluated regarding the diagnostic criteria of ASD by experienced raters (gold standard) who had previously submitted to a concordance test and remained unaware of the children’s scores. Sensitivity and specificity Figs. were obtained. Factor analysis and Item Response Theory approaches were used for validity evidence. RESULTS: 115 children were diagnosed with ASD. Scores ≥9 had 98.3 % of sensitivity and 62.2 % of specificity for the diagnosis. Two cases with the typical presentation of Asperger’s syndrome scored lower than 9. The mean time for screening was about 8.5 min. The validation model presented excellent coefficients of factorability. The analysis showed that the total variance of the scores of the scale through the 15 items was explained only by the set of ASD symptoms (unidimensionality). CONCLUSION: The Mini-TEA scale is a very sensitive tool to screen for ASD and has high internal consistency for assessing typical autistic symptoms.

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11. Kerr M, Ewert R. Constructing the Autistic-Transgender Intersection: A Critical Discourse Analysis. Sociol Health Illn. 2025; 47(6): e70063.

Researchers increasingly report a statistical intersection between autism and transgender (trans) identities. Claims about this estimated relationship have recently proliferated within and beyond scientific research, particularly amidst escalating political struggles over the rights and recognition of trans people. Our study critically analyses discursive patterns among these claims to investigate how and to what effects diverse actors construct the intersection of autism and trans identities. We qualitatively analysed a purposive sample of 30 texts, including psychological research, clinical literature, news and opinion articles, state legislation, activist materials and autistic trans individuals’ published narratives. We propose that claims about the autistic-trans intersection can be understood through four discursive types: psychiatrisation, repressive protection, medical management and affirmation and reclamation. These types represent differently patterned ways of (1) explaining medical vs. social ’causes’ of the intersection and (2) legitimising versus delegitimising autistic trans identities, with each type promoting distinctive medical, cultural and political practices as responses. In this case study, we present the autistic-trans intersection as a site at which social actors with varied political aims and differential access to power reproduce and resist normative systems of gender and ability, pursue varied processes of de/medicalisation and negotiate expert knowledge and uncertainty.

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12. Liu L, Zhou X, Ma Z, Liu R, Zhang Y, Wang Y, Liu Y, Xia X, Wang J. Hippocampal Proteomics Reveals the Novel Molecular Profiling of Postnatal Lead (Pb) Exposure on Autism-like Behaviors. Toxics. 2025; 13(6).

Autism spectrum disorder (ASD) is a multifactorial neurodevelopmental disorder, with lead (Pb) exposure increasingly linked to its risk. However, the molecular mechanisms linking Pb to ASD remain poorly understood. This study established a postnatal Pb-exposed mouse model and employed the three-chamber social test and the marble-burying test to assess ASD-like behavioral phenotypes. The Pb levels in both blood and the hippocampus were quantified, and hippocampal neurons were assessed for morphological alterations. Moreover, a Tandem Mass Tag (TMT)-based quantitative proteomics approach was applied to elucidate the underlying mechanisms. Neurobehavioral experiments revealed Pb-exposed C57BL/6 offspring exhibited reduced social interaction and novelty preference along with increased repetitive marble-burying behavior. The Pb levels in both the blood and hippocampus of Pb-treated mice were significantly elevated compared with those of control animals. Postnatal Pb exposure resulted in a reduction in the neuronal numbers and disorganized neuronal arrangement in the hippocampus. A total of 66 proteins were identified as being differentially expressed after postnatal Pb exposure. Among them, 34 differentially expressed proteins were common in both Pb exposure groups, with 33 downregulated and 1 upregulated. Bioinformatic analysis revealed multi-pathway regulation involved in Pb-induced neurodevelopmental disorders, including dysregulation of synaptic signaling, abnormal activation of neuron apoptosis, and neuroinflammation. Notably, the SYT10/IGF-1 signaling pathway may play a potential key role. These findings enhance understanding of Pb-induced autism-like behaviors, providing novel proteomic insights into the etiology of ASD.

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13. McQuillan TJ, Gabriel D, Miller PE, Waters PM, Bauer AS. Incidence of Autism Spectrum Disorder and Global Developmental Delay in Infants With Brachial Plexus Birth Injury: An Early Association With Birth Asphyxia. J Pediatr Orthop. 2025.

BACKGROUND: Autism spectrum disorder (ASD) and global developmental delay (GDD) are 2 common central nervous system (CNS) diagnoses in children. We hypothesized that the incidence of ASD and GDD is higher among patients with brachial plexus birth injury (BPBI), and that the subgroup of patients with BPBI and CNS diagnoses would have increased rates of maternal risk factors and birth-related complications. METHODS: A single institution prospective cohort of 849 patients with BPBI was used. Demographics, perinatal history, maternal factors and treatment, and patient outcomes were recorded. Charts were reviewed for concomitant diagnoses of GDD and ASD. Cohorts were compared regarding demographics and treatment data, and then age and sex-matched to analyze for risk factors. RESULTS: Of 834 unique patients seen for BPBI, 772 met inclusion criteria. Seventeen subjects had a diagnosis of GDD (13) or ASD (4) before the age of 5 years, an incidence of 2.2%, which is not different from the general population incidence of ASD and GDD. After age and sex-matching, a history of birth asphyxia (58% vs. 15%, P<0.05) was most associated with an increased likelihood of ASD or GDD diagnosis. Rates of shoulder dystocia and eventual surgical management did not differ between cohorts. CONCLUSIONS: Birth complications, especially birth asphyxia, are associated with GDD/ASD in patients with BPBI. Providers should consider that BPBI and GDD/ASD may coexist in children with a history of a complicated birth. LEVEL OF EVIDENCE: Level IV.

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14. Persichetti AS, Li TL, Stevens WD, Martin A, Gilmore AW. Atypical Scene-Selectivity in the Retrosplenial Complex in Individuals With Autism Spectrum Disorder. Autism Res. 2025.

A small behavioral literature on individuals with autism spectrum disorder (ASD) has shown that they can be impaired when navigating using map-based strategies (i.e., memory-guided navigation), but not during visually-guided navigation. Meanwhile, there is neuroimaging evidence in typically developing (TD) individuals demonstrating that the retrosplenial complex (RSC) is part of a memory-guided navigation system, while the occipital place area (OPA) is part of a visually-guided navigation system. A key identifying feature of the RSC and OPA is that they respond significantly more to pictures of places compared to faces or objects-i.e., they demonstrate scene-selectivity. Therefore, we predicted that scene-selectivity would be weaker in the RSC of individuals with ASD compared to a TD control group, while the OPA would not show such a difference between the groups. We used functional MRI to scan groups of ASD individuals and matched TD individuals while they viewed pictures of places and faces and performed a one-back task. As predicted, scene-selectivity was significantly lower in the RSC, but not OPA, in the ASD group compared to the TD group. These results suggest that impaired memory-guided navigation in individuals with ASD may, in part, be due to atypical functioning in the RSC.

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15. Ranjan J, Bhattacharya A. The Evolving Landscape of Functional Models of Autism Spectrum Disorder. Cells. 2025; 14(12).

Autism spectrum disorder (ASD) is a neurodevelopmental disorder affecting 1-3% of the population globally. Owing to its multifactorial origin, complex genetics, and heterogeneity in clinical phenotypes, it is difficult to faithfully model ASD. In essence, ASD is an umbrella term for a group of individually rare disorders, each risk gene accounting for <1% of cases, threaded by a set of overlapping behavioral or molecular phenotypes. Validated behavioral tests are considered a gold standard for ASD diagnosis, and several animal models (rodents, pigs, and non-human primates) have traditionally been used to study its molecular basis. These models recapitulate the human phenotype to a varying degree and have been indispensable to preclinical research, but they cannot be used to study human-specific features such as protracted neuronal maturation and cell-intrinsic attributes, posing serious limitations to translatability. Human stem cell-based models, both as monolayer 2D cultures and 3D organoids and assembloids, can circumvent these limitations. Generated from a patient's own reprogrammed cells, these can be used for testing therapeutic interventions that are more condition and patient relevant, targeting developmental windows where the intervention would be most effective. We discuss some of these advancements by comparing traditional and recent models of ASD.

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16. Rumsa S, Afsharnejad B, Lim Lee EA, Bölte S, Tan T, Girdler S. A scoping review of current approaches to strengths-based transition practices for autistic adolescents. Autism. 2025: 13623613251346336.

This review aimed to map the literature surrounding strengths-based approaches in studies with autistic adolescents focusing on adult transition outcomes, by describing the active ingredients of interventions and the properties of assessment tools. Relevant databases were searched for articles surrounding strengths-based practices, which met the following criteria: (a) written in English, (b) published since 1990, and (c) involving adolescent participants with a diagnosis of autism spectrum disorder. Data extraction included sample, aim, intervention description, outcome measures, and results. Data were synthesised using a descriptive approach and thematic analysis was conducted to identify active ingredients, practice strategies, outcomes, and assessment properties. Overall, 35 articles met the inclusion criteria, including 26 studies evaluating strengths-based interventions and 9 articles relating to general transition outcomes. Five types of interventions were classified according to their active components: transition planning, employment preparation and training, technology programmes, peer mentoring, and cognitive skills training. The best practice themes highlighted the importance of leveraging each individual’s interests and skills, developing individualised processes, and accommodating participant’s needs through a holistic approach. Analysis of the outcome measures highlighted a gap in standardised strengths-based assessments, but uncovered primary outcome themes of self-determination, social skills, confidence, and work-related skills.Lay abstractThis review explores research on strengths-based approaches for autistic adolescents, particularly focusing on outcomes related to transitioning into adulthood. The goal was to identify and describe the key components of strengths-based interventions and assessment tools. The review looked at studies published since 1990 that involved adolescents with a diagnosis of autism spectrum disorder and included a variety of approaches aimed at promoting positive adult outcomes. After analysing 35 relevant articles, the review categorised five types of interventions based on their key components: transition planning, employment preparation, technology programmes, peer mentoring, and cognitive skills training. The review also identified fewer strengths-based measures than expected, with many studies employing custom measures. This points to a gap in reliable strengths assessments for autistic adolescents, which would be useful in transition planning and improving self-image. Despite the lack of standardised tools, the review highlighted several common strengths-based outcomes, such as improvements in self-determination, social skills, confidence, and work-related skills.

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17. Staunton H, McIver T, Tillmann J, Clinch S, Hanrahan V, Ewens B, Averius C, Barsdorf AI, Baranger A, Berry Kravis E, Charman T, Neerland H, Singer AT, Ventola P, Jk Williams Z, Barrett L. Development of a Goal Attainment Scale (GAS) outcome measure for clinical interventional studies in paediatric autism. Autism. 2025: 13623613251349904.

Existing clinical outcome assessments (COAs) have limitations in capturing treatment effects in autism for those who chose to enrol in clinical research. Some COAs include items that are not relevant or equally important to all autistic people; others are not sufficiently comprehensive. Goal Attainment Scaling (GAS), which measures individual experiences against personalised goals, has been proposed as a more individualised and change-sensitive approach to assess outcomes in clinical studies. We developed a novel GAS measure for use in paediatric autism studies based on qualitative interviews with autistic adolescents, parents and clinicians. Applying a methodologically robust approach, concept elicitation interviews (N = 40) were first conducted to understand and generate a bank of personalised goals, followed by cognitive debriefing interviews (N = 39) to provide feedback on a draft GAS manual. Twenty-five personalised goals were generated for core autistic characteristics (communication, socialisation, restrictive and repetitive behaviours), as well as associated characteristics and impacts. In debriefing interviews, adolescents and parents supported the use of personalised goals and clinicians recommended using such goals in clinical studies and practice. In conclusion, GAS measures may overcome some of the challenges with existing outcome measures and complement future outcome measurement strategies for clinical studies in paediatric autism.Lay AbstractAutistic children and adolescents and their parents support the use of personalised goals as a way of measuring the effects of new treatments for those who chose to enrol in clinical research. Health professionals also recommend using personalised goals in both their research and in treatment plans. Establishing personalised goals, a process known as Goal Attainment Scaling (GAS), means identifying goals according to the needs of the individual, as opposed to using standardised outcomes for all participants. Autism is a condition with many different characteristics and degrees of impact, and the tools commonly used to measure treatment effects, known as clinical outcome assessments (COAs), have limitations. Some COAs, for example, include outcomes that are not relevant to all autistic people; others do not include enough outcomes to represent the experience of all autistic people. GAS, which measures individual experiences against personalised goals, may be complementary to existing COAs to provide an individualised or tailor-made tool to evaluate outcomes as a result of an intervention. We developed a GAS measure for researchers/health professionals to use in studies with autistic children and adolescents. Our research was based on a total of 40 interviews with adolescents, parents and clinicians, asking open-ended questions about how children and adolescents experience autism in order to understand and create a bank of potential personalised goals. We then conducted 39 further interviews to ask them for their feedback on the first draft of the measure. In the end, we compiled a list of 25 personalised goals related to core and associated characteristics of autistic children and adolescents, including goals related to communication, socialisation, and restricted and repetitive behaviours. We hope that these findings will help to improve the measurement of meaningful outcomes for autistic children and adolescents in future studies.

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18. Venkatesh S, Shwetha TS, Janarthanan SD, Naaz S, Srinivasan K. Development and Impact of a Communication Module on Eye Examination Testability Among Individuals with Autism Spectrum Disorder. J Autism Dev Disord. 2025.

This study aimed to develop and validate a communication module for eye examination and to determine its effectiveness in enhancing the testability among individuals with ASD. A Social Story based communication module was developed and validated in both English and Kannada languages. The module primarily focused on visual acuity testing, refraction, sensory and motor evaluation. A single-blinded cross-sectional study was conducted to determine the impact of the communication module on the testability of eye examination among individuals with ASD. Thirty individuals aged 5 to 10 years with a clinical diagnosis of mild to moderate ASD were enrolled and randomly allocated to the intervention (n = 15) or the control group (n = 15). Examiner 1 oriented the participants in the intervention group with the module. Examiner 2, blinded to the module’s implementation, examined all the participants’ eyes. All the procedures were carried out in a community setting. The average scoring for relevancy, appropriateness, understandability and simplicity of content ranged from 4.45 to 4.78 out of 5. The testability ranged from 40 to 100% in the intervention group and 20-100% in the control group for various tests. The odds of testability were 2.01 times greater for overall eye examination in the intervention group (OR = 2.01, 95% CI [1.82, 2.20]). For each test the odds of testability were 1.96-3.89 times higher in the intervention group. The developed and validated English and Kannada communication modules are effective in improving the testability of eye examination among individuals with ASD.

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19. Xu F, Chen G, Jeon S, Ling L, Manohar S, Ding D, Auerbach BD, Lee J, Lee SK, Sun W. Foxg1 gene mutation impairs auditory cortex response and reduces sound tolerance. Cereb Cortex. 2025; 35(6).

FOXG1 syndrome (FS) is a rare and devastating neurodevelopmental disorder affected by FOXG1 gene mutations and reduced sound tolerance has been reported in children with FS. Effects of single missense mutation of Foxg1 gene on auditory function and behavior were studied using the G216S mouse model. G216S mice showed significantly reduced gap-induced prepulse inhibition, suggesting poor temporal processing without hearing loss. Increased running and freezing behaviors under loud sounds were also found in G216 mice, suggesting aversive sound behaviors. Electrophysiological assessment of the auditory cortex of G216 mice revealed a slightly reduced amplitude and enlarged poststimulus responses to the sound stimulus. The layer function analysis using current source density revealed reduced layer-specific response in the G216S mice. Immunocytochemistry found Foxg1 gene mutation affects cortical layer differentiations and reduced cortical neurons, which are consistent with the physiological results. Our study suggests that the Foxg1 mutation impaired cortical development. The results are consistent with other models of autism spectrum disorders (ASDs), suggesting that the G216S mouse model may represent a hyperacusis model of ASD. Our results provide direct evidence that a single-nucleotide mutation of the Foxg1 gene can affect cortical layer development and auditory processing and reduce sound tolerance.

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20. Zhao Y, Lai S, Lyu W, Zhao M, Li S, Zhang M, Qi J. [Effect of music therapy on brain function of autistic children based on power spectrum and sample entropy]. Sheng Wu Yi Xue Gong Cheng Xue Za Zhi. 2025; 42(3): 537-43.

This study aims to explore whether Guzheng playing training has a positive impact on the brain functional state of children with Autism Spectrum Disorder (ASD) based on power spectral and sample entropy analyses. Eight ASD participants were selected to undergo four months of Guzheng playing training, with one month as a training cycle. Electroencephalogram (EEG) signals and behavioral data were collected for comparative analysis. The results showed that after Guzheng playing training, the relative power of the alpha band in the occipital lobe of ASD children increased, and the relative power of the theta band in the parietal lobe decreased. The differences compared with typically developing (TD) children were narrowed. Moreover, some channels exhibited a gradual increase or decrease in power with the extended training period. Meanwhile, the sample entropy parameter also showed a similar upward trend, which was consistent with the behavioral data representation. The study shows that Guzheng training can enhance the brain function of ASD patients, with better effects from longer training. Guzheng playing training could be used as a daily intervention for autism.

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