1. Emanuela N, Giovanni C, Elisa B, Romeo B, Stefania B, Roberto K. Exploring Characteristics, Services And Outcome Indicators Of Global Functioning In Adults With Autism Spectrum Disorders: Insights From A Group Of 503 Patients. Clin Neuropsychiatry. 2025; 22(3): 196-206.

OBJECTIVE: Autism Spectrum Disorders are neurodevelopmental disorders characterized by persistent communication and social interaction challenges, restricted and repetitive behaviours and interests. The severity of ASD symptoms varies widely, influencing an individual’s functioning throughout their lifespan. Various external contextual factors can further modulate these symptoms and their impact on overall functioning. The primary purpose of this study is to investigate global functioning as well as the types of services, interventions and therapies that subjects with ASD in adulthood have experienced throughout their lives. Additionally, we collected data to analyze and identify factors that impact outcomes for subjects with ASD. METHOD: A total of 503 subjects with ASD in adulthood, along with their families and clinicians, were interviewed to collect comprehensive data on demographic, clinical, and functional variables. Data were analyzed using regression models to identify factors independently associated with global functioning, measured through the Global Assessment of Functioning (GAF) scale. RESULTS: We identified internal and external factors that significantly impacted the global functioning of ASD people.The analysis identified multiple factors significantly affecting global functioning, including levels of communication, psychiatric comorbidities, social relationships, use of interventions, and living and employment status. The study highlights the critical role of both individual and contextual elements in shaping outcomes. CONCLUSIONS: Our study represents an exploratory investigation of outcomes for ASD adults. It underscores the importance of personalized and targeted interventions to improve the quality of life and overall functioning of subjects with ASD in adulthood. The findings advocate for further research to address gaps in understanding and to design interventions tailored to diverse needs.

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2. Fitzgerald R, Eck L, Pazol K, Wiggins L, Durkin M, Nadler C. COVID-19 Infection and Mitigation for Young Children With Autism and Other Disabilities. J Dev Behav Pediatr. 2025.

OBJECTIVE: This study investigated prevalence of positive tests for COVID-19 infection and difficulties with mitigation strategies among young children with autism spectrum disorder (ASD) and other developmental disabilities (DD) compared with children from the general population (population comparison group [POP]). METHODS: Before the pandemic, children aged 2 to 5 years in the Study to Explore Early Development (SEED) completed a developmental assessment assigning them to a study group (ASD, other DD, or POP). Caregivers were recontacted in 2021 to complete a questionnaire assessing the impact of the pandemic in 2020 when children were aged 3 to 8 years. Modified Poisson regression models assessed the relationship between study group and difficulty with mitigation strategies and nasal swabbing. RESULTS: Caregivers of 1027 SEED participants completed the survey. Prevalence of having 1 or more positive COVID-19 tests was 3 times higher for children in the ASD and DD groups versus the POP group. In adjusted models, children in the ASD group were more likely to have difficulty with all 3 mitigation strategies and nasal swabbing compared with children in the POP group. The DD group were more likely than the POP group to experience difficulty with handwashing and physical distancing. CONCLUSION: Compared with the general population, youth with ASD and DD were more likely to have at least 1 positive COVID-19 test and difficulty following mitigation strategies. These findings underscore the importance of supporting youth with ASD and DDs in anticipation of future public health emergencies and the annual respiratory disease season.

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3. Fradique AR, Bodas de Carvalho S, Jorge A. Perceptions and Knowledge of Autism Spectrum Disorder in Primary Care and Educational Settings: A Study From Central Portugal. Cureus. 2025; 17(6): e86986.

INTRODUCTION: Autism spectrum disorder (ASD) is a neurodevelopmental condition that typically manifests in early childhood and is ideally identified during the first years of life. Family physicians, primary school teachers, and kindergarten educators play a crucial role in the early detection of neurodevelopmental disorders, which is essential for improving outcomes. This study aimed to assess professionals’ knowledge and perceptions regarding ASD. METHODS: A cross-sectional, quantitative study was conducted with a convenience sample of family physicians, primary school teachers, and kindergarten educators in the Cova da Beira region in central Portugal. A questionnaire on ASD, adapted from a previously validated instrument and updated based on current literature, was used. Descriptive statistical analysis and two-way frequency tables were used to explore relationships between variables. The chi-square test was applied to assess differences between independent groups. A p-value of <0.05 was considered statistically significant. RESULTS: A total of 95 professionals responded to the questionnaire: 57 were primary school teachers, 21 were kindergarten educators, and 17 were family physicians; 80% of participants (n=76) reported not feeling confident in identifying early warning signs or monitoring children with ASD. Half of the respondents believed that symptoms typically appear before the age of three. Among family physicians, none fully agreed with being able to identify early signs. However, most respondents expressed interest in receiving training in this area. CONCLUSION: There is a clear need to invest not only in the academic training of future professionals but also in continuing education strategies to address the existing knowledge gaps among currently practicing professionals in the field of autism.

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4. Ghiglino D, Floris F, De Tommaso D, Russi NS, Frulli A, Moretti S, Wykowska A. Enhancing theory of mind in autism through humanoid robot interaction in a randomized controlled trial. Sci Rep. 2025; 15(1): 27650.

Autism Spectrum Disorder presents significant challenges in social cognition, particularly in understanding others’ thoughts, emotions, and intentions. Traditional interventions often rely on role-playing games with human therapists or inanimate objects, but these approaches may lack consistency and ecological validity. This study integrated Applied Behavior Analysis principles with robot-assisted training to improve social cognition in children with autism. A randomized, two-period crossover trial involving 32 children (mean age = 7.53 ± 1.32 years, 7 females) compared robot-assisted training using the humanoid robot iCub with standard therapy and an active human-assisted control condition. During robot-assisted sessions, children engaged in structured social role-play scenarios, practicing essential social skills such as perspective-taking, joint attention, and recognizing intentions. The robot’s human-like appearance and adaptive behavior provided an engaging, predictable learning environment. Results indicated that robot-assisted training significantly improved social cognition, in contrast to traditional therapy and the human-assisted control group, where no improvements were found. Importantly, the active human control confirmed that these improvements were driven by the robot’s presence rather than the protocol itself. These findings demonstrate the potential of humanoid robots as effective therapeutic tools for enhancing social skills in children with autism, offering a scalable and engaging complement to existing clinical practices. Clinical Trial Registration: ISRCTN15341724, registered on May 6, 2025. Available at: https://www.isrctn.com/ISRCTN15341724 .

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5. Giani L, Michelini G, Ajmone PF, Scaini S, Allegri B, Costantino A, Vizziello P. Executive function deficits as risk markers for psychopathology and autism related traits in cornelia de lange and rubinstein-Taybi syndromes. J Psychiatr Res. 2025; 190: 181-9.

BACKGROUND AND AIM: There is evidence that executive function (EF) deficits might act as transdiagnostic risk factors for a wide range of psychopathology in typically developmental children. We aim to test the implications of EF deficits on internalizing, externalizing and autistic symptoms in youth with Cornelia de Lange (CdLS) and Rubinstein-Taybi syndromes (RSTS). METHOD: This cross-sectional study was carried out on a sample of 14 patients with CdLS (64 % girls, age = 8.00 ± 4.55) and 15 patients with RSTS (53 % girls, age = 10.27 ± 4.65) recruited through follow-ups. Executive functioning, internalizing and externalizing symptoms, and ASD-related traits were assessed with the Behavior Rating Inventory of Executive Function, the Child Behavior Checklist, and the Social Communication Questionnaire. Stepwise linear regression analyses were performed. RESULTS: Inhibition, set-shifting and planning emerged as the most robust EF predictors of clinically relevant emotional and behavioral difficulties in CdLS and RSTS, as well as of the triads of impairments associated with syndromic autism. CONCLUSION: Being aware of the neuropsychological deficits underneath a broad spectrum of psychological symptoms might foster the setting up of proper rehabilitative programs targeting EF deficits to reduce psychopathology in rare genetic syndromes.

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6. Greco V, Greco D, Treccarichi S, Bottitta M, Failla P, Musumeci A, Papa C, Chiavetta V, Calì F, Vinci M. Clinical Application of a Customized Gene Panel for Identifying Autism Spectrum Disorder-Associated Variants. Medicina (Kaunas). 2025; 61(7).

Background and Objectives: Autism spectrum disorder (ASD) is a neurodevelopmental disorder that belong to genetic and epigenetic mechanism. Despite the recent advantages in next-generation sequencing (NGS) technology, ASD etiology is still unclear. Materials and Methods: In this study, we tested a customized target genetic panel consisting of 74 genes in a cohort of 53 ASD individuals. The tested panel was designed from the SFARI database. Results: Among 53 patients analyzed using a targeted genetic panel, 102 rare variants were identified, with nine individuals carrying likely pathogenic or pathogenic variants considered genetically « positive. » We identified six de novo variants across five genes (POGZ 2 variants, NCOR1, CHD2, ADNP, and GRIN2B), including two variants of uncertain significance in POGZ p.Thr451Met and NCOR1 p.Glu1137Lys, one likely pathogenic variant in GRIN2B p.Leu714Gln, and three pathogenic variants in POGZ p.Leu775Valfs32, CHD2 p.Thr1108Metfs8, and ADNP p.Pro5Argfs*2. Conclusions: This study presents a comprehensive characterization of the targeted gene panel used for genetic analysis, while critically evaluating its diagnostic limitations within the context of contemporary genomic approaches. A pivotal accomplishment of this study was the ClinVar submission of novel de novo variants which expands the documented mutational spectrum of ASD-associated genes and enhances future diagnostic interpretation.

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7. Karakale Ö, Nelson N, Gredelj A, Ryan KJ, Bayindir A. Prior contextual information and autistic traits influence eye gaze behaviour and emotional valence ratings for facial expressions. Sci Rep. 2025; 15(1): 27574.

This study examined the influence of social top-down information on eye-gaze behaviour and valence perception in individuals with higher and lower autistic traits. Data from 57 participants (37 identified as female, 18 as male, 2 as non-binary; M = 21.33 years, SD = 4.35) were analysed. Participants rated the valence of facial expressions depicting different intensities of emotions across three contexts while an eye-tracker recorded their gaze behaviour. In the no-context condition, participants observed neutral, joyful and angry faces without any background context; in the positive-context, they viewed neutral and joyful faces while imagining a dream-job offer scenario; and in the negative-context, they viewed neutral and angry faces while imagining a dream-job rejection scenario. Key findings included: (1) both the higher and lower autistic traits groups fixated longer on the eyes than the mouth across valence categories and contexts, with largest differences observed in the no-context condition, (2) the higher autistic traits group showed similar or longer eye fixations than the lower autistic traits group, with greater variability, and (3) the lower autistic traits group exhibited context-sensitive valence ratings, perceiving faces as more negative in positive and negative contexts than in no-context, whereas the higher autistic traits group showed no significant context effects. These results suggest that while both groups integrate prior information in sensory-driven processes like gaze behaviour, context-sensitive reflective judgments are more evident in individuals with lower autistic traits, highlighting trait-linked differences in predictive processing in social cognition.

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8. Koopman JJ, Fiore DC, Thiele K. Approach to Developmental Screening and Surveillance in Young Children. Am Fam Physician. 2025; 112(1): 55-61.

Early childhood development focuses on physical well-being, the development of motor skills and social interaction patterns, and the attainment of specific cognitive and communication skills. Developmental delay occurs when children are slow to achieve expected age-related norms for specific skills and may suggest underlying disease states. Developmental disabilities tend to be chronic conditions that affect social, physical, or cognitive development; these are reported in about 9% of children. Early intervention improves developmental outcomes with the potential for immediate and lasting effects. The American Academy of Pediatrics recommends developmental surveillance at every well-child visit, using a validated developmental screening tool during the 9-, 18-, 24-, and 30-month well-child visits. The US Preventive Services Task Force found insufficient evidence to support universal developmental screening for autism spectrum disorder or speech and language disorders at these ages. Family physicians should use their best judgment when deciding whether to implement universal developmental screening. Numerous screening tools are available with comparable sensitivity and specificity profiles at varying costs. For any child with developmental concerns, referral for diagnostic evaluation is warranted with access supported by federal law. Children younger than 3 years should be referred to early intervention services. Children 3 years and older are typically referred to school-based programs, although they may not be available to children in private schools without access to these resources. Chromosomal microarray testing or exome sequencing is recommended for children who have developmental disabilities without an explainable cause. Continued surveillance and/or screening is warranted at future appointments.

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9. Kosaki Y, Mihara R. Context blindness in the BTBR T(+) tf mouse model of autism: impaired contextual control of discrimination reversal learning. Behav Brain Res. 2025; 495: 115752.

Behavioural inflexibility-a hallmark of autism spectrum disorder (ASD)-can be characterised by the persistence of established behaviours in inappropriate contexts. This inflexibility may arise from a reduced ability to use contextual information to disambiguate effective contingencies, thereby impeding the flexible expression of instrumental behaviour in a contextually appropriate manner. In this study, we employed the BTBR T(+) tf inbred mouse model of ASD to examine whether contextual control of behaviour is impaired in these mice. BTBR and control C57BL/6J (B6) mice were first trained on a T-maze positional discrimination task, after which they were subjected to a reversal task conducted in either the same or a different maze context. The contextual shift significantly facilitated the acquisition of reversal discrimination in B6 mice, whereas it had no effect on BTBR mice. The lack of contextual control resulted in poorer reversal performance in BTBR in the new context, while both strains performed comparably when the context remained unchanged. A subsequent experiment ruled out the possibility that BTBR mice were simply unable to differentiate between the two maze contexts, as they demonstrated normal differential contextual conditioning. Overall, these findings suggest that BTBR mice are critically impaired in utilising contextual cues to disambiguate the effective stimulus-response-outcome contingencies in a hierarchical manner. This supports the notion that « context blindness » is a core deficit in ASD and warrants further investigation into its neurobiological underpinnings.

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10. Kottakota H, Hotez E, Wilson RB. Survey of Child Neurologists Highlights a Missed Opportunity for Identifying and Treating Motor Impairments in Autism. Pediatr Neurol. 2025; 171: 11-20.

BACKGROUND: Motor impairments, such as motor delays, atypical gait, dyspraxia, and poor coordination, are highly prevalent among individuals with autism spectrum disorder (ASD). Motor impairments are detrimental to multiple aspects of development but are often underdiagnosed and undertreated in children and adolescents with ASD. Child neurologists are specialists who provide clinical care for autistic patients across the lifespan. However, little is known about how child neurologists understand, diagnose, and treat motor impairments in children with ASD. METHODS: In this preliminary study, we surveyed child neurologists (N = 100) on their knowledge of and clinical practices addressing motor impairments in pediatric patients with ASD. Our survey also sought to identify potential barriers to care and medical education efforts that may mitigate existing gaps. RESULTS: We found most child neurologists were not confident that motor impairments were an associated feature of ASD, do not frequently evaluate for motor impairments, lack sufficient tools for motor evaluations with autistic children, face multiple barriers to providing interventions, and do not receive adequate clinical training regarding this topic. CONCLUSIONS: These preliminary findings suggest that substantial gaps in awareness about motor impairments in ASD persist among practicing child neurologists. Though child neurologists are trained to assess motor function, our results highlight a missed opportunity in the setting of ASD. Child neurologists would benefit from greater attention and resources to learn, evaluate, and treat motor impairments as part of holistic patient care for individuals with ASD.

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11. Lazek R, Karoum A, Fathalla W. Genotype-Phenotype Correlation and Therapeutic Amenability in a Cohort of Rett Syndrome Patients: A Single-Center Study. Cureus. 2025; 17(6): e86953.

Introduction Classical Rett syndrome (RTT) is a rare progressive neurodevelopmental disorder associated with mutations in the MECP2 gene. This study aims to correlate the genetic mutations and phenotype characteristics of a cohort of RTT syndrome patients and evaluate their amenability to novel therapies, including Trofinetide. Methods We conducted a retrospective observational review of a case series (2000-2024) of RTT patients at Sheikh Shakhbout Medical City, Abu Dhabi, United Arab Emirates (ARE). We included patients under 16 years of age with classic RTT and a confirmed MECP2 mutation. We analyzed demographic, clinical, and genetic data to determine genotype-phenotype correlations. Results Of 13 patients with RTT syndrome, 8 patients had genetic data on record and were included in the phenotype-genotype correlation analysis; the entire cohort (n=13) was included in the clinical profiling. The age at presentation was 11.2 years, and the median age was 23 months. The distribution of patients’ stages at presentation was as follows: 7(53%) were in stage I, 5 (38%) were in stage II, and 1 (8%) were in stage III. Progression to Stages III and IV took place collectively in 9 (75%) of patients. Of the eight patients with genetic data, 6/8 (75%) had variants classified as pathogenic/likely pathogenic, whereas 2/8 (25%) had variants classified as variants of unknown significance (VUS) or benign, however, both met clinical diagnostic criteria for RTT and were assessed by the authors and treating team as pathogenic. These two novel variants were in two classical patients with RTT, classified as VUS (1330G>A) and benign (641C>A). The cohort revealed a high frequency of comorbidities, including epilepsy 8 (61%), behavioral disturbances 7 (53%), gastrointestinal complications 6 (46%), and scoliosis 4 (30%). 5 (43%) of patients had MRI abnormalities. As for treatment amenability, all patients in our cohort are eligible for the only currently approved treatment (Trofinetide), regardless of genotype-phenotype correlation. Conclusion This study demonstrates the clinical and genetic heterogeneity in RTT, and the value of genotyping for confirmation, assessment, and management planning. While no genotype-phenotype profile excludes treatment eligibility with Trofinetide, this correlation may inform early life response to treatment and eligibility for other emerging therapeutic options such as gene therapy. Early recognition, diagnosis, and treatment will certainly have an impact on patient outcomes.

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12. Liu X, Guo C, Lyu L, Liu H, Yu J, Huang Z, Yang L, Wei W, Huang J, Liao C, Li Y, Chen L, Chen WX. Parental educational levels association with autism risk in offsprings and their autistic phenotypes. Psychiatry Res. 2025; 351: 116649.

This study aims to explore the association between parental education levels and the risk of autism in offspring, as well as to further investigate the relationship between parental education and the phenotypic characteristics of autistic symptoms. The study is based on an autism cohort of 835 autistic children, with a control group of 504 typically developing children randomly selected for comparison. Socioeconomic data from the parents of the study participants were collected, and the clinical phenotypes of the autistic children were assessed. Multivariate logistic regression and linear analyses were conducted. Our findings indicate that higher parental education levels significantly reduce the risk of autism in offspring. Furthermore, higher parental education is associated with milder autism severity and better cognitive, language, and adaptive behavior development. This study underscores the association between higher parental education levels and a lower risk of autism in offspring, as well as milder clinical phenotypes, highlighting the urgent need for targeted support for families with lower educational attainment. LAY SUMMARY: This study found that higher parental education levels are associated with a lower risk of autism in children, as well as milder autism symptoms. Additionally, higher parental education is linked to better cognitive, language, and adaptive behavior development in children. The study highlights the impact of parental education levels on autism risk and clinical phenotypes, and calls for more support for families with lower educational attainment.

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13. Melo ML, Yamazaki DAT, Santos LLD, Souza JM, Moreira RS. Is there a relationship between parental concern and suspicion of developmental delay?. Rev Paul Pediatr. 2025; 43: e2024187.

OBJECTIVE: To investigate the existence of an association between parents’ concerns about their child’s development and alterations in the child’s development, risk factors, and family socioeconomic status. METHODS: A cross-sectional study was performed, using data collected at child care centers in municipalities in the south of Santa Catarina, Brazil, from parents of children aged between four and 65 months. Information about parental concerns, child development, and family risk factors was collected using the « Survey of Wellbeing of Young Children (SWYC-BR) » instrument. The « Classification of the Brazilian Association of Research Companies » was applied to classify socioeconomic status. The data were then subjected to a multivariate analysis using the R Studio software. A significance level of 0.05 was adopted. RESULTS: A total of 498 children participated in the study, with an average age of 41 months. The multivariate analysis revealed that parents who expressed concern about their children’s current development are approximately three times more likely to have children with suspected developmental delay (prevalence ratio – PR 2,97; 95% confidence interval – 95%CI 1.85-4.33). Furthermore, abuse of illicit substances increases the risk of children with suspected delay by almost two times (p=0.034). However, the other environmental variables were not associated with developmental delay. CONCLUSIONS: The study demonstrated that parents’ concern about their child’s development is a significant predictor of suspected developmental delay. This finding highlights the importance of considering parental concern as a factor in developmental monitoring and family-centered intervention programs.

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14. Morales A, Korsakova E, Mansooralavi N, Soliman P, Jahanbani S, Olsen ML, Badhuri A, Lowry WE. Evidence for neuronal DNA damage in Rett Patient Brain. Dis Model Mech. 2025.

Rett Syndrome is characterized by a postnatal loss of neurophysiological function and regression of childhood development. Because the syndrome is X-linked and males with MECP2 mutations generally do not survive birth, the study of this syndrome has been complicated by the fact that in the female brain, a portion of neurons express wildtype MECP2, and another portion express a non-functional allele of MECP2. Here we present an approach that allows for transcriptional profiling of individual neurons and a direct comparison between neurons that express functional MECP2 with those that have diminished MECP2 function. With a novel profiling approach, we find that mutant neurons from Rett brain show patterns of defects in expression of synaptic and metabolic genes. A similar analysis on Rat brain lacking MECP2 expression yielded similar patterns, suggesting Rat is a suitable in vivo model of Rett Syndrome. These analyses identified DNA damage and senescence transcriptional signatures specifically in MECP2 null neurons, suggesting a possible trigger of dysfunction in Rett Syndrome. Together, these data highlight potentially defective molecular, physiological and metabolic pathways in Rett brain neurons.

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15. Nour-Eldine W, Ltaief SM, Ouararhni K, Abdul Manaph NP, de la Fuente A, Bensmail I, Abdesselem HB, Al-Shammari AR. A multi-omics approach reveals dysregulated TNF-related signaling pathways in circulating NK and T cell subsets of young children with autism. Genes Immun. 2025.

Peripheral immune dysregulation is frequently reported in autism spectrum disorder (ASD); however, the underlying molecular mechanisms remain unclear. We recruited a well-defined cohort of young Arab children with ASD, aged 2-4 years, along with matched controls in Qatar. Using a multimodal approach, we integrated transcriptomic, proteomic, and single-cell RNA-seq data analyses from this cohort. Targeted transcriptomic profiling identified differential expression of 50 immune-related genes in the circulating PBMCs of children with ASD, three of which (JAK3, CUL2, and CARD11) negatively correlated with ASD symptom severity. These gene signatures were validated in independent studies using blood and brain tissues from individuals with ASD. Enrichment analysis revealed involvement of these genes in immune function, particularly through TNF signaling pathway. Proteomic analysis highlighted disrupted TNF signaling and upregulated levels of TNFSF10 (TRAIL), TNFSF11 (RANKL), and TNFSF12 (TWEAK) in plasma of individuals with ASD. Single-cell RNA-seq revealed that B cells, CD4 T cells, and NK cells potentially contributed to these upregulations in ASD. Dysregulated TRAIL, RANKL, and TWEAK signaling pathways were specifically observed in CD8 T cells, CD4 T cells, and NK cells of individuals with ASD. These findings provide new insights into immune dysregulation mechanisms in ASD and highlight potential therapeutic targets.

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16. Oliveira D, Lousada M, Figueiredo D. Communicative Skills Assessment Scale: Contributions to the Validation of Autism Spectrum Disorder. Autism Dev Lang Impair. 2025; 10: 23969415251362626.

BACKGROUND AND AIMS: Speech-language pathologists actively participate in the assessment of pragmatics in children with Autism Spectrum Disorder (ASD). However, in Portugal, there is a shortage of valid and reliable instruments to assess this domain in detail. Therefore, it was deemed relevant to help validate the Escala de Avaliação de Competências Comunicativas (EAC) (Communicative Skills Assessment Scale) in this population. METHODS: A cross-sectional, descriptive correlational study was conducted. The sample included 97 children, aged between 4 and 7 years and 11 months, diagnosed with ASD with European Portuguese as their native language. As an exclusion criterion, the co-occurrence of intellectual developmental disorder was defined. The internal consistency of the EAC was analyzed through the calculation of Cronbach’s alpha and test-retest reliability through the calculation of the intraclass correlation coefficient. Convergent validity was also analyzed using Spearman’s correlation coefficient. RESULTS: The EAC presented a high internal consistency value, with a Cronbach’s alpha of 0.956. The test-retest reliability analysis (n = 27) revealed good stability in the participants’ responses at both assessment moments, with ICC values varying between 0.642 and 0.842. In the study of convergent validity, statistically significant correlations were observed between the EAC total score and the two scales of the Strengths and Difficulties Questionnaire-Portuguese Version (SDQ-Por): relationship problems with colleagues (r(s) = -0.273; p < .01) and prosocial behavior (r(s) = 0.606; p < .01). CONCLUSION: The EAC presents good reliability and validity for children with ASD, suggesting its adequacy as a research and clinical tool for testing pragmatics within this population. IMPLICATIONS: This study will improve clinical decision making regarding ASD and guide future research.

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17. Qiao J, Yan H, Wang Z, Zhang G, Xu G. The Autism Spectrum Disorder Subtypes Identification Based on Features of Structural and Functional Coupling. J Autism Dev Disord. 2025.

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by high clinical and biological heterogeneity. Identifying discrete ASD subtypes is crucial for understanding the neurobiological substrates and developing individualized treatments. However, most existing approaches focus solely on features from single modality, ignoring the valuable interaction information between multiple imaging modalities. In this study, we propose a novel approach that combines structural and functional neuroimaging data with semi-supervised learning techniques to cluster individuals with ASD into distinct subtypes. We aim to reveal quantitative biomarkers and elucidate the biological basis of ASD subgroups, potentially leading to improved diagnosis and targeted interventions. Diffusion tensor imaging (DTI) and functional magnetic resonance imaging (fMRI) data from 92 individuals with ASD and 65 neurotypical controls were collected from four independent sites within the Autism Brain Imaging Data Exchange (ABIDE) database. We initially integrated structural and functional MRI data through a skeleton-based white matter (WM) functional analysis, enabling voxel-wise function-structure coupling by projecting fMRI signals onto a WM skeleton. Subsequently, we employed WM low-frequency oscillations (LFOs) as input features for a clustering algorithm, aiming to categorize individuals with Autism Spectrum Disorder (ASD) into distinct neurological subgroups. Statistical analyses were performed to identify significant disparities in fractional anisotropy (FA), mean diffusivity (MD), and various clinical measures between these ASD subgroups and the control group. Additionally, we employed a support vector machine (SVM) to evaluate the potential of these subgroups to enhance diagnostic accuracy for ASD. Two neurosubtypes of ASD were identified. Subtype 1 displayed significantly lower FA in the posterior cingulate cortex (PCC) compared to neurotypical controls, with no significant differences observed for Subtype 2 in this region. Conversely, Subtype 2 exhibited reduced FA in the anterior cingulate cortex, middle temporal gyrus, parahippocampus, and thalamus relative to neurotypical controls, whereas Subtype 1 showed no significant alterations in these areas. Additionally, Subtype 2 had markedly higher mean diffusivity in the middle temporal gyrus, parahippocampus and thalamus than the control group, a pattern not seen in Subtype 1. The full-scale intelligence quotient (FIQ) and performance IQ (PIQ) scores were also lower for Subtype 2 compared to Subtype 1. Moreover, diagnostic prediction accuracy was enhanced when distinguishing between these subtypes compared to the general ASD classification. Our study identified two distinct neurosubtypes of ASD, shedding light on the biological underpinnings of the disorder’s heterogeneity. The unique biomarkers associated with each subgroup reveal potential neurological signatures specific to individuals with autism, which could facilitate tailored therapeutic strategies and early interventions. This differentiation enhances the understanding of ASD and underscores the importance of personalized approaches in managing the spectrum of autism disorders.

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18. Rogers ME, Garcia-Pradas L, Thom SA, Vazquez RA, Dallman JE. Going with the Flow: Sensorimotor Integration Along the Zebrafish GI Tract. Cells. 2025; 14(15).

Sensorimotor integration along the gastrointestinal (GI) tract is crucial for normal gut function yet remains poorly understood in the context of neurodevelopmental disorders (NDDs) such as autism spectrum disorder (ASD). The genetic tractability of zebrafish allows investigators to generate molecularly defined models that provide a means of studying the functional circuits of digestion in vivo. Optical transparency during development allows for the use of optogenetics and calcium imaging to elucidate the mechanisms underlying GI-related symptoms associated with ASD. The array of commonly reported symptoms implicates altered sensorimotor integration at various points along the GI tract, from the pharynx to the anus. We will examine the reflex arcs that facilitate swallowing, nutrient-sensing, absorption, peristalsis, and evacuation. The high level of conservation of these processes across vertebrates also enables us to explore potential therapeutic avenues to mitigate GI distress in ASD and other NDDs.

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19. Ryan J, Brown HM, Borden A, Devlin C, Kedmy A, Lee A, Nicholas DB, Thompson-Hodgetts S. ‘It’s Really Who They Are and What They Want’: Staff Perspectives on Supporting Autonomy for Autistic Adults With Intellectual Disabilities. J Appl Res Intellect Disabil. 2025; 38(4): e70106.

BACKGROUND: Autonomy is a crucial component of self-determination, yet it is limited for Autistic individuals, especially those with co-occurring intellectual disabilities. We explored how professionals supported Autistic people with intellectual disabilities’ autonomy. MATERIALS AND METHODS: This qualitative study used a community-based participatory approach. Nine staff who worked within a post-secondary transition programme to support Autistic young adults with intellectual disabilities were interviewed. Data were analysed using reflexive thematic analysis. RESULTS: The quality and depth of relationships between staff and Autistic adults with intellectual disabilities, and a safe, supportive environment, were critical to supporting autonomy. Staff also identified several skill areas that would benefit program participants to exert their autonomy, including self-advocacy, interoceptive awareness, working with others, and understanding choices. CONCLUSIONS: This crucial information for supporting autonomy for Autistic adults with intellectual disabilities provides a basis for enacting programme change to promote self-determination. Recommendations for staff and programme development are provided.

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20. Sharma AK, Verma SK, Mehan S. Navigating the Complex Landscape of Autism Spectrum Disorder: Challenges and Opportunities in Diagnosis, Treatment, and Supports. Curr Pharm Des. 2025.

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition characterized by persistent deficits in social communication and interaction, as well as restricted, repetitive patterns of behaviour, interests, or activities. Despite advancements in our understanding of ASD, identification, screening, diagnosing, and treating this condition present significant challenges. This review article comprehensively examines the current diagnostic and treatment landscape for ASD, addressing key issues and opportunities for improvement. The diagnostic criteria for ASD, as outlined in the Diagnostic and Statistical Manual of Mental Disorders-5 (DSM-5), provide a framework for identifying the condition. Still, the heterogeneity of presentation and the presence of comorbidities contribute to diagnostic complexity. Early intervention is crucial for improving outcomes in individuals with ASD; however, accessing timely and appropriate interventions can be challenging. A diverse range of interventions exists for individuals with ASD, including behavioural therapies, pharmacological treatments, gene expression, and alternative therapies. However, the efficacy and accessibility of these treatments vary, and navigating the treatment landscape can be daunting for caregivers and clinicians alike. Moreover, due to the persistence of healthcare disparities, , underserved populations face barriers to diagnosis and treatment. Transitioning to adulthood poses unique challenges for individuals with ASD, including finding employment and accessing support services. Additionally, ASD affects not only individuals diagnosed with the condition but also their families and caregivers. Addressing caregiver stress and burnout is essential for providing holistic care to individuals with ASD and their families. This review also identifies areas needing further research, such as personalized medicine and healthcare disparities, and discusses policy implications for enhancing ASD care and support. By highlighting research needs and policy considerations, this review aims to inform future efforts to improve ASD Screening, diagnosis, and treatment, ultimately striving to enhance outcomes for individuals with ASD and their families.

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21. Sonbol HM, Abdelmawgoud AS, El-Kady NM, Abdelhay ES, Abdel Tawab HE. Serum zonulin level in autistic children and its relation to severity of symptoms a case-control study. Sci Rep. 2025; 15(1): 27802.

Evidence suggests a possible link between Autism spectrum disorder and gut permeability, specifically as indicated by serum zonulin levels. However, limited studies examine this connection to symptom severity, especially in Egypt. Assessing serum zonulin level in children with autism and its relation to the severity of symptoms. In Mansoura University Hospital’s pediatric psychiatry outpatient clinics, case-control research was carried out with children with Autism diagnoses and age- and gender-matched typically developing controls. The Childhood Autism Rating Scale was used to gauge the severity of the symptoms, and the Enzyme-Linked Immunosorbent Assay (ELISA) was used to detect serum zonulin levels. Serum zonulin levels were considerably higher in children with Autism than in the control group (p < 0.05). Additionally, there was a positive correlation between higher zonulin levels and the degree of autism symptoms as determined by CARS scores (r = X, p < 0.05). Children with severe Autism had the highest zonulin levels, according to subgroup analysis, which suggests a possible connection between gut permeability and the intensity of symptoms. This study emphasizes how serum zonulin may serve as a biomarker for intestinal permeability in kids with Autism and how it may be related to the intensity of symptoms. These results highlight the need for more investigation into the gut-brain axis as a potential therapeutic target for Autism. Addressing gut permeability may provide new ways to lessen the intensity of symptoms and enhance results for children with Autism.

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22. Vanneau T, Crosse MJ, Foxe JJ, Molholm S. Impaired neural encoding of naturalistic audiovisual speech in autism. Neuroimage. 2025; 318: 121397.

Visual cues from a speaker’s face can significantly improve speech comprehension in noisy environments through multisensory integration (MSI)-the process by which the brain combines auditory and visual inputs. Individuals with Autism Spectrum Disorder (ASD), however, often show atypical MSI, particularly during speech processing, which may contribute to the social communication difficulties central to the diagnosis. Understanding the neural basis of impaired MSI in ASD, especially during naturalistic speech, is critical for developing targeted interventions. Most neurophysiological studies have relied on simplified speech stimuli (e.g., isolated syllables or words), limiting their ecological validity. In this study, we used high-density EEG and linear encoding and decoding models to assess the neural processing of continuous audiovisual speech in adolescents and young adults with ASD (N = 23) and age-matched typically developing controls (N = 19). Participants watched and listened to naturalistic speech under auditory-only, visual-only, and audiovisual conditions, with varying levels of background noise, and were tasked with detecting a target word. Linear models were used to quantify cortical tracking of the speech envelope and phonetic features. In the audiovisual condition, the ASD group showed reduced behavioral performance and weaker neural tracking of both acoustic and phonetic features, relative to controls. In contrast, in the auditory-only condition, increasing background noise reduced behavioral and model performance similarly across groups. These results provide, for the first time, converging behavioral and neurophysiological evidence of impaired multisensory enhancement for continuous, natural speech in ASD. SIGNIFICANCE STATEMENT: In adverse hearing conditions, seeing a speaker’s face and their facial movements enhances speech comprehension through a process called multisensory integration, where the brain combines visual and auditory inputs to facilitate perception and communication. However, individuals with Autism Spectrum Disorder (ASD) often struggle with this process, particularly during speech comprehension. Previous findings using simple, discrete stimuli do not fully explain how the processing of continuous natural multisensory speech is affected in ASD. In our study, we used natural, continuous speech stimuli to compare the neural processing of various speech features in individuals with ASD and typically developing (TD) controls, across auditory and audiovisual conditions with varying levels of background noise. Our findings showed no group differences in the encoding of auditory-alone speech, with both groups similarly affected by increasing levels of noise. However, for audiovisual speech, individuals with ASD displayed reduced neural encoding of both the acoustic envelope and the phonetic features, marking neural processing impairment of continuous audiovisual multisensory speech in autism.

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23. Wanderley DB, Muratori F, Argollo N, Tolentino A, Miranda T, Vaz F, Campos V, de Mattos AM, Lucena R. Autistic Children And Adolescents Without Intellectual Disability: Individual And Family Profile. Clin Neuropsychiatry. 2025; 22(3): 215-28.

OBJECTIVE: This study aims to characterize the developmental, cognitive, and behavioral profiles of children and adolescents with autism spectrum disorder (ASD) without intellectual disability (ID). METHOD: A cross-sectional observational study was conducted, including children and adolescents with ASD and an intelligence quotient (IQ) of 75 or higher. Parents completed the CBCL, and SNAP-IV 26 Parent Rating Scale to assess developmental milestones, cognitive abilities, and behavioral symptoms. RESULTS: The study included 74 participants, with a mean age of 9.8 ± 2.9 years, of whom 64 (86.5%) were male. Mothers and fathers had a mean age of 33.4 ± 5.5 and 30.2 ± 5.7 years, respectively, with 64.9% of mothers and 47.9% of fathers having completed higher education. Generalized anxiety and depression were the most frequent psychiatric histories reported by parents. Median IQ scores were: total 100 (88-113), verbal 102 (85-117), and performance 97 (90-108). While 82.5% of children spoke their first words before 24 months, only 40% were able to form phrases by age 2. Prosody, pragmatic difficulties, and echolalia were present in over 40% of cases. Moderate or severe symptoms of inattention, hyperactivity, and oppositional behaviors were observed in 33.8%, 16.2%, and 16.2% of participants, respectively. Internalizing symptoms were present in 27%, and externalizing symptoms in 15% of the sample. Learning challenges included difficulties with text interpretation (31%), text production (24%), reading, and math (19% each). CONCLUSIONS: Children and adolescents with ASD without ID exhibit significant behavioral and cognitive challenges, including language delays, inattention, internalizing symptoms, and learning difficulties. These findings emphasize the need for targeted educational and therapeutic strategies to address their unique developmental and behavioral profiles.

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24. Yeter B, Demirkol YK, Usluer E, Oğuz S, Eser M, Yarar MH, Canbek S, Sezgin BI, Akalın A, Karamık G, Durmuşalioğlu EA, Ocak Z, Karkucak M, Öztürk N, Kökali F, Baş Ş S, Özcan S, Nur B, Mıhçı E, Elcioglu NH. Clinical and molecular results in 15 Turkish patients with Wiedemann-Steiner syndrome: identification of eight novel KMT2A variants and a case of dual molecular diagnosis in the CSNK2A1. Eur J Pediatr. 2025; 184(8): 512.

Wiedemann-Steiner syndrome (WSS) is a rare autosomal dominant neurogenetic disorder caused by monallelic variants in KMT2A gene, characterized by neuromotor developmental delay, intellectual disability, microcephaly, seizures, behavioral disorders, dysmorphic facial features, hirsutism, and systemic anomalies. The KMT2A gene encodes a histone lysine methyltransferase crucial for the regulation of gene expression during early developmental stages. In this study, the clinical and molecular findings of 15 Turkish patients with WSS confirmed by whole exome sequencing are reported. Variant segregation was confirmed in all families. The ages of the patients were between 1.5 and 16 years. The majority of patients had neuromotor developmental delay, speech delay, and intellectual disability. The most frequently recognised dysmorphic facial features were thick eyebrows, long eyelashes, synophrys, hypertelorism, and broad nose. Other frequently observed clinical findings included short stature, congenital hypotonia, behavioral problems, genitourinary anomalies, and abnormal gait. Novel findings included focal segmental glomerulosclerosis, cholelithiasis, and sacrococcygeal teratoma. Fifteen different KMT2A variants were detected, including 8 novel (p.Gln3594*, p.Glu1407Argfs*4, p.Ser610Ilefs*9, p.Ser2188Leufs*25, p.Glu970Glnfs*37, p.Ser759Valfs*22, p.Lys1346Serfs*24, and c.11146 + 1_11146 + 6delinsA) variants. Additionally, one patient exhibited a dual molecular diagnosis with a de novo variant in CSNK2A1, associated with Okur-Chung neurodevelopmental syndrome. CONCLUSION: This study expands the clinical and molecular spectrum of WSS, highlighting novel variants and unique manifestations. It emphasizes the importance of molecular testing in accurate diagnosis and management. By characterizing phenotypic diversity and dual diagnosis, this work contributes valuable insights for advancing clinical care and guiding future research. WHAT IS KNOWN: • Wiedemann-Steiner syndrome (WSS) is a rare neurodevelopmental disorder caused by heterozygous KMT2A variants, characterized by developmental delay, intellectual disability, and distinctive facial features. • WSS exhibits marked clinical variability among affected individuals. WHAT IS NEW: • This study presents the largest Turkish WSS cohort to date, expands the phenotypic spectrum with novel findings such as focal segmental glomerulosclerosis, cholelithiasis, and sacrococcygeal teratoma. • This study presents the largest Turkish WSS cohort to date and expands the phenotypic spectrum with novel findings such as focal segmental glomerulosclerosis, cholelithiasis, and sacrococcygeal teratoma, while also identifying eight novel WSS-associated variants, including p.Gln3594*, p.Glu1407Argfs*4, p.Ser610Ilefs*9, p.Ser2188Leufs*25, p.Glu970Glnfs*37, p.Ser759Valfs*22, p.Lys1346Serfs*24, and c.11146+1_11146+6delinsA.

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25. Zorzi S, Lubkina V, Jēkabsone I, Berteotti L. Digital technology interventions for communication skills in persons with neurodevelopmental disorders: a scoping review. Res Dev Disabil. 2025; 164: 105080.

BACKGROUND: Individuals with neurodevelopmental disorders (NDD) frequently experience severe communication impairments. Digital Assistive Technologies (DAT) have emerged as promising tools to address these challenges. OBJECTIVES: The present scoping review aims to map the existing scientific literature on the use of DAT in fostering communication skills among individuals with NDD. ELIGIBILITY CRITERIA: Studies were included if they: (1) involved participants with NDD, (2) implemented DAT interventions for communication skills, and (3) were published between 2009 and 2024. SOURCES OF EVIDENCE: A systematic search was conducted across two electronic databases (ERIC and PubMed). CHARTING METHODS: Data extraction focused on participant characteristics, types of DAT interventions, communication outcomes, and implementation settings, following PRISMA guidelines for scoping reviews. RESULTS: The review identified 103 eligible studies, predominantly focusing on children with autism (56 %) and intellectual disability (33.3 %). Most interventions utilized augmentative and alternative communication devices and speech-generating devices. Studies reported significant improvements in communication skills, particularly in requesting (41 studies), commenting (23 studies), intraverbal skills (34 studies), and listener responses (33 studies). CONCLUSIONS: While DAT shows promise in enhancing communication skills, significant research gaps exist regarding its impact on different age groups, particularly adults. Limited sample sizes and narrow focus on specific communication skills restrict generalizability. Future research should explore DAT effectiveness across diverse populations and develop comprehensive, individualized intervention plans.

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