1. Aarabi MA, Abdi K, Soleimani F. Tele-rehabilitation for children with physical disabilities: qualitative exploration of challenges in Iran. BMC Pediatr;2025 (Jan 7);25(1):11.

BACKGROUND: Children with physical disabilities (Having this type of disability can be due to any of the reasons such as cerebral palsy, genetic, developmental, neurodevelopment and any other reasons that cause physical disability in the child) need rehabilitation services. Tele-rehabilitation is a practical approach to provide rehabilitation services for children with rapid and continuous access. This approach has been used more recently and overcomes the limitations of conventional rehabilitation, which involves wasting time, traveling distance, and cost. The purpose of this study is to examine the challenges of telerehabilitation for children with physical disabilities such as cerebral palsy and developmental delay. METHOD: This study was conducted with the qualitative approach of content analysis in order to investigate the challenges of tele-rehabilitation services in Tehran in 2023. Twenty-two participants were selected based on purposeful sampling with maximum variation. Data was gathered through semi-structured and in-depth interviews with children’s parents and tele-rehabilitation service providers. The interviews lasted between 15 and 75 min, and MAXQDA 10 software was used for data analysis. The conventional content analysis method of Granheim and Lundman was used to analyze the data. In this research, four Guba and Lincoln criteria including creditability, dependency, conformability, and transferability were used to evaluate the trustworthiness of data. This article is part of a more extensive qualitative study that explored the barriers and facilitators of these services. FINDING: For the challenges of telerehabilitation services for these children, the researcher faced with 10 categories which were obtained after the investigation. The 10 categories are as follows: unorganized internet infrastructure, lack of a developed program, inefficient technology, disregard for ethical principles, lack of therapist information, visual and auditory limitations, cultural misconceptions, weakness of empathy and therapeutic alliance, Lack of familiarity with telerehabilitation, and the other online therapy problems. CONCLUSION: Finally, by identifying these challenges, it is possible to provide services with higher qualities to people of this group by reducing barriers. Also, the policy makers of the mentioned area should take more effective steps in order to provide this type of services to the families of children with physical disabilities, so that it ultimately leads to basic measures to improve the condition of these children.

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2. Arcebido K, Tuliao EV, Ibarra AM, Russell K, Valdes A, Shinkre S, Gefen S, Evans A, Barella S, Wadei J, Quinon I, Soda T. Determining rates of genetic testing in the evaluation of autism spectrum disorder and intellectual and developmental disorder. Autism;2025 (Jan 7):13623613241289980.

Genetic testing is recommended by various professional organizations as part of clinical guidelines during the evaluation of autism spectrum disorder (ASD) and other neurodevelopmental disorders. However, previous studies demonstrate that rates of genetic testing are low. This study aimed to identify the rates of genetic testing within a large university healthcare network and factors that may be associated with higher or lower rates. Researchers reviewed over 7500 electronic health records of patients who were evaluated for ASD or other neurodevelopmental disorders. Some factors that were recorded include patient demographics (race, gender, insurance, zip code), ordered but not completed tests, genetic test results and reasons for declining genetic tests if noted, and other known barriers to genetic testing such as blood draws and specialties of providers seen by patients. Statistical analysis was conducted to determine associations between rates of genetic testing and different factors recorded in our database. Our results demonstrate that less than half of patients received at least one indicated genetic test, while a smaller percentage received recommended genetic tests. While sex assigned at birth and gender did not impact whether a patient received at least one indicated genetic test, race and insurance did. Our review reveals that genetic testing is not sufficiently offered by physicians, and we have identified multiple obstacles that prevent patients from receiving genetic testing which must be further investigated.

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3. Ariffin RA, Ismail J, Abd Rahman FN, Wan Ismail WS, Ahmad N, Abdul Ghafar A, Yang WW, Masra F, Kamal Nor N. Malay translation and validation of modified checklist for autism in toddlers, revised with follow-up (M-CHAT-R/F). Front Pediatr;2024;12:1384292.

INTRODUCTION: Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition diagnosed clinically based on phenotypic characteristics and criteria such as the Diagnostic and Statistical Manual of Mental Disorders (DSM-5). Due to its significant social, emotional, and psychological impacts, early identification and diagnosis are crucial for starting early intervention and improving outcomes. A screening tool is imperative in identifying young children at risk so timely intervention can be instituted. The Modified Checklist for Autism in Toddlers, Revised with Follow-up (M-CHAT-R/F) is a reliable and valid screening tool used worldwide, with the previous iteration used for a long time in Malaysia. To enhance ASD screening in Malaysia, the latest version of M-CHAT-R/F was translated into Malay and evaluated for reliability and validity, as majority of the population speaks Malay, while the tool is originally in English. This study is a cross-sectional study performed in the Universiti Kebangsaan Malaysia (UKM) hospitals, between May 1st, 2020, to June 30th, 2022. METHODOLOGY: The English version of the M-CHAT-R/F was translated into Malay using forward and backward translation methods. Content and face validity were ascertained and a pilot study was performed for internal reliability. A total of 244 children attending clinics and wards in UKM hospitals aged 16-30 months were recruited based on three categories: children with typical development, suspected cases, and established cases of ASD. All caregivers of the recruited children were asked to complete the Malay M-CHAT-R/F. Reliability and validation assessments were performed. RESULTS: Malay M-CHAT-R/F was found to be a reliable tool with good internal consistency (Cronbach’s alpha = 0.906, p < 0.001). The Receiver Operating Characteristic (ROC) curve showed that cut-off scores of 2 on Malay M-CHAT-R/F lead to successful ASD classification with Area Under the Curve (AUC) = 0.887, p < 0.001 with a 95% CI (0.840, 0.933). DISCUSSION: The assessment of the Malay M-CHAT-R/F showed satisfactory psychometric properties. Based on this study, the Malay M-CHAT-R/F is a reliable and valid screening tool to screen for ASD in children aged 16-30 months. Translating the M-CHAT-R/F into Malay is expected to improve community outreach and screening, which is essential for early diagnosis and timely intervention for children with ASD in Malaysia.

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4. Artis J, Nowell SW, Dubay M, Grzadzinski R, Thompson K, Choi E, Baranek GT, Watson LR. Early Language, Social Communication, and Autism Characteristics of Young Toddlers at Elevated Likelihood for Autism Identified by the First Years Inventory-Lite. Am J Speech Lang Pathol;2025 (Jan 7);34(1):347-363.

PURPOSE: The purposes of this article were (a) to compare the developmental skills of toddlers whose scores on the First Years Inventory-Lite (FYI-Lite), an early screening tool, indicated an elevated likelihood of a later diagnosis of autism (ELA) to the developmental skills of toddlers at a lower likelihood of a later diagnosis of autism (LLA) and (b) to examine how autism characteristics are correlated with communication measures in toddlers at an ELA. METHOD: We assessed the language, social communication (SC) skills, and characteristics of autism demonstrated by 45 toddlers at an ELA and 37 toddlers at an LLA between the ages of 11 and 18 months and compared group scores on these measures. We also examined the correlations between the characteristics of autism and language measures within the ELA group. RESULTS: Toddlers at an ELA demonstrated lower scores on measures of global expressive and receptive language, receptive vocabulary, gestures, and response to joint attention bids as well as SC characteristics of autism when compared to those demonstrated by toddlers at an LLA. There were no significant differences between groups on expressive vocabulary, language profiles (i.e., the relationship between receptive and expressive scores), or restrictive and repetitive behaviors. Within the ELA group, the SC characteristics of autism were significantly associated with their global receptive and expressive language skills. CONCLUSIONS: On the basis of the FYI-Lite screening tool, toddlers at an ELA are demonstrating delays in language and SC skills when compared to toddlers identified with an LLA. For toddlers at an ELA, the SC characteristics of autism are significantly associated with early language skills. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.27969444.

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5. Barnes SA, Thomazeau A, Finnie PSB, Heinrich MJ, Heynen AJ, Komiyama NH, Grant SGN, Menniti FS, Osterweil EK, Bear MF. Non-ionotropic signaling through the NMDA receptor GluN2B carboxy terminal domain drives morphological plasticity of dendritic spines and reverses fragile X phenotypes in mouse hippocampus. bioRxiv;2024 (Dec 23)

It is well known that activation of NMDA receptors can trigger long-term synaptic depression (LTD) and that a morphological correlate of this functional plasticity is spine retraction and elimination. Recent studies have led to the surprising conclusion that NMDA-induced spine shrinkage proceeds independently of ion flux and requires the initiation of de novo protein synthesis, highlighting an unappreciated contribution of mRNA translation to non-ionotropic NMDAR signaling. Here we used NMDA-induced spine shrinkage in slices of mouse hippocampus as a readout to investigate this novel modality of synaptic transmission. By using selective pharmacological and genetic tools, we find that structural plasticity is dependent on the ligand binding domain (LBD) of GluN2B-containing NMDA receptors and that metabotropic signaling occurs via the GluN2B carboxyterminal domain (CTD). Disruption of signaling by replacing the GluN2B CTD with the GluN2A CTD leads to increased spine density, dysregulated basal protein synthesis, and epileptiform activity in area CA3 reminiscent of phenotypes observed in the Fmr1 (-/y) model of fragile X syndrome. By crossing the Fmr1 (-/y) mice with animals in which the GluN2A CTD has been replaced with the GluN2B CTD, we observe a correction of these core fragile X phenotypes. These findings suggest that non-ionotropic NMDAR signaling through GluN2B may represent a novel therapeutic target for treatment of fragile X and related causes of intellectual disability and autism.

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6. Boulton KA, Guastella AJ. Development of precision medicine approaches to advance clinical trials for autism and social behavior: A research imperative. Proc Natl Acad Sci U S A;2025 (Jan 7);122(1):e2424066122.

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7. Decker L, Waldrop J, Derouin A. Neuropsychiatric Stabilization in Youths on the Autism Spectrum in the Pediatric Emergency Department: A Call for Practice Standardization. J Pediatr Health Care;2025 (Jan 7)

INTRODUCTION: Children and adolescents with neurodevelopmental and psychiatric comorbidities, particularly autism spectrum disorder and developmental delays (ASD/DD), present unique challenges in pediatric emergency department (PED) settings. Youths with ASD/DD are prone to sensory overload and frequently exhibit agitation and/or aggression, necessitating specialized interventions. However, PEDs lack standardized protocols for managing behavioral dysregulation in this vulnerable population, often relying on anecdotal treatment approaches that hinder the provision of safe, effective and individualized care. METHODS: A review of the literature and current agitation guidelines was conducted and analyzed inform the development of a clinical pathway tailored to the specific neuropsychiatric needs of youths with ASD/DD in the PED. RESULTS: A comprehensive clinical pathway was formulated to equip healthcare teams with safe and effective prevention, de-escalation and impact mitigation strategies, including environmental modifications, behavioral interventions, caregiver engagement and evidence-based pharmacologic guidelines. DISCUSSION: Implementing this standardized framework will enhance patient outcomes, improve safety, and ensure compassionate, patient-centered care in PEDs.

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8. Gabriel GC, Yagi H, Tan T, Bais A, Glennon BJ, Stapleton MC, Huang L, Reynolds WT, Shaffer MG, Ganapathiraju M, Simon D, Panigrahy A, Wu YL, Lo CW. Mitotic block and epigenetic repression underlie neurodevelopmental defects and neurobehavioral deficits in congenital heart disease. Nat Commun;2025 (Jan 7);16(1):469.

Hypoplastic left heart syndrome (HLHS) is a severe congenital heart disease associated with microcephaly and poor neurodevelopmental outcomes. Here we show that the Ohia HLHS mouse model, with mutations in Sap130, a chromatin modifier, and Pcdha9, a cell adhesion protein, also exhibits microcephaly associated with mitotic block and increased apoptosis leading to impaired cortical neurogenesis. Transcriptome profiling, DNA methylation, and Sap130 ChIPseq analyses all demonstrate dysregulation of genes associated with autism and cognitive impairment. This includes perturbation of REST transcriptional regulation of neurogenesis, disruption of CREB signaling regulating synaptic plasticity, and defects in neurovascular coupling mediating cerebral blood flow. Adult mice harboring either the Pcdha9 mutation, which show normal brain anatomy, or forebrain-specific Sap130 deletion via Emx1-Cre, which show microcephaly, both demonstrate learning and memory deficits and autism-like behavior. These findings provide mechanistic insights indicating the adverse neurodevelopment in HLHS may involve cell autonomous/nonautonomous defects and epigenetic dysregulation.

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9. He L, Zhu T, Cai W, Yang W, Chen Z, Li J. Posterior Ligamentum Complex Preservation Alleviate ASD-Related Biomechanical Deterioration in Lumbar Interbody Fusion Models: A Finite Element Analysis. JOR Spine;2025 (Mar);8(1):e70030.

BACKGROUND: There are differences in the extent of excision of articular processes, spinal processes and posterior ligamentum complexes (PLC) for posterior approach lumbar interbody fusion. Given that the biomechanical significance of these structures has been verified and that deterioration of the biomechanical environment is the main trigger for complications in both fused and adjacent motion segments, changes in decompression ranges may affect the potential risk of adjacent segmental disease (ASD) biomechanically; however, this topic has yet to be identified. METHODS: Posterior lumbar interbody fusion (PLIF) with different decompression strategies was simulated in a well-validated lumbosacral model. The excision and preservation of the cranial motion of the segmental PLC and the lateral articular process in the fusion segment were simulated in this model. The stress distribution in the cranial motion segment was computed under different loading conditions to determine the potential risk of ASD. RESULTS: Compared to complete bilateral articular process excision, preservation of the lateral two-thirds of the articular process did not alleviate stress concentration on the cranial motion segment both in PLC preserved and excised models. In contrast, preservation of the cranial segmental PLC can obviously alleviate the stress concentration tendency of the cranial intervertebral disc under flexion loading conditions. CONCLUSION: Preservation of the lateral parts of the articular process cannot optimize the biomechanical environment, in contrast, PLC preservation can effectively alleviate ASD related biomechanical deterioration of the cranium segment.

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10. Hector EC, Reich BJ, Eloyan A. Distributed model building and recursive integration for big spatial data modeling. Biometrics;2025 (Jan 7);81(1)

Motivated by the need for computationally tractable spatial methods in neuroimaging studies, we develop a distributed and integrated framework for estimation and inference of Gaussian process model parameters with ultra-high-dimensional likelihoods. We propose a shift in viewpoint from whole to local data perspectives that is rooted in distributed model building and integrated estimation and inference. The framework’s backbone is a computationally and statistically efficient integration procedure that simultaneously incorporates dependence within and between spatial resolutions in a recursively partitioned spatial domain. Statistical and computational properties of our distributed approach are investigated theoretically and in simulations. The proposed approach is used to extract new insights into autism spectrum disorder from the autism brain imaging data exchange.

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11. Hollingsworth EW, Liu TA, Alcantara JA, Chen CX, Jacinto SH, Kvon EZ. Rapid and quantitative functional interrogation of human enhancer variant activity in live mice. Nat Commun;2025 (Jan 6);16(1):409.

Functional analysis of non-coding variants associated with congenital disorders remains challenging due to the lack of efficient in vivo models. Here we introduce dual-enSERT, a robust Cas9-based two-color fluorescent reporter system which enables rapid, quantitative comparison of enhancer allele activities in live mice in less than two weeks. We use this technology to examine and measure the gain- and loss-of-function effects of enhancer variants previously linked to limb polydactyly, autism spectrum disorder, and craniofacial malformation. By combining dual-enSERT with single-cell transcriptomics, we characterise gene expression in cells where the enhancer is normally and ectopically active, revealing candidate pathways that may lead to enhancer misregulation. Finally, we demonstrate the widespread utility of dual-enSERT by testing the effects of fifteen previously uncharacterised rare and common non-coding variants linked to neurodevelopmental disorders. In doing so we identify variants that reproducibly alter the in vivo activity of OTX2 and MIR9-2 brain enhancers, implicating them in autism. Dual-enSERT thus allows researchers to go from identifying candidate enhancer variants to analysis of comparative enhancer activity in live embryos in under two weeks.

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12. Hotez E, Rava J, Khorasani L, Levenson AP, Shen T, Chen L, Klomhaus AM, Kuo AA. A pilot-test to support healthcare providers in promoting vaccine uptake among individuals with intellectual and developmental disabilities. Am J Prev Med;2025 (Jan 7)

Individuals with intellectual and/or developmental disabilities (I/DDs) encounter barriers to vaccine access, uptake, and confidence, leading to health inequities. These include barriers related to healthcare provider capacity to effectively address the social determinants of health, provide accessible needle procedures, and translate and disseminate inclusive public health information. The current study aimed to test the preliminary effectiveness of a virtual continuing medical education (CME) course on enhancing healthcare provider capacity to address these barriers. This CME was available free-of-charge online. Participants included 120 healthcare providers (physicians: 45%; nurses: 37%; and other learners: 18%) in internal medicine, family practice, and related disciplines. The CME-created based on video interviews with patients and providers-focused on factors that affect vaccine uptake/access/confidence (Module 1); strategies to increase vaccine receipt (Module 2); and inclusive public health communication (Module 3). The pre-post survey assessed self-reported understanding, confidence, and abilities. Following CME completion, learners were significantly more likely to report higher understanding, confidence, and abilities in responding to the social determinants of health (Module 1); addressing barriers to vaccine access/uptake/confidence (Module 2); and engaging in effective public health communication (Module 3). Findings support the utility of short-term healthcare provider trainings on this topic. Future research should evaluate longer-term impacts and identify opportunities to create standardized medical curricula for this population.

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13. Kang J, Lv S, Li Y, Hao P, Li X, Gao C. The effects of neurofeedback training on behavior and brain functional networks in children with autism spectrum disorder. Behav Brain Res;2025 (Jan 7);481:115425.

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder with an unclear pathogenesis to date. Neurofeedback (NFB) had shown therapeutic effects in patients with ASD. In this study,we analyzed the brain functional networks of children with ASD and investigated the impact of NFB targeting the beta rhythm training on these networks. The Autism Behavior Checklist (ABC) and Social Response Scale (SRS) were employed to evaluate the effects of NFB training on the behavioral abilities of children with ASD. We compared the differences in static and dynamic brain functional networks between ASD and Typically Developing (TD) children, also explored the changes in these networks in ASD children after 20 sessions of NFB training. The Weighted Phase Lag Index (wPLI) was used to construct static functional networks, and the Fuzzy Entropy (FuzzyEn) algorithm was further employed to measure the complexity of static functional connectivity and construct dynamic functional networks. This allowed the analysis of functional connectivity and fluctuations in the static functional networks of ASD and TD children, as well as the time variability of the dynamic functional networks. Additionally, the study explored the changes in brain functional networks and behavioral scales before and after NFB training. Results from behavioral scales indicated significant improvements in cognitive, communication, language, and social scores in ASD children following NFB intervention. EEG analysis revealed that static functional connectivity was lower, connectivity variability was higher, and temporal variability was greater in ASD children compared to TD children. Following NFB training, increased functional connectivity, reduced connectivity variability in the Delta frequency band, and decreased temporal variability were observed in ASD children. The results revealed abnormalities in both static and dynamic functional networks in children with ASD, with NFB training showed potential to modulate these networks. While our results showed that NFB training can assist participants in regulating connectivity and temporal variability in specific brain regions, robust evidence for its effectiveness in alleviating core symptoms of ASD remained limited.

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14. Li K, Du B, Guan X, Chen L, Wang M, Chen G, Jia F, Jiang X. Not on the same wavelength? How autistic traits influence cooperation: evidence from fNIRS hyperscanning. Front Psychiatry;2024;15:1514682.

BACKGROUND: Individuals with high autistic traits exhibit characteristics like those of individuals with autism, including impairments in sociability and communication skills. Whether individuals with high autistic traits exhibit less cooperation remains debated. METHODS: This study employed the prisoner’s dilemma game (PDG) to measure cooperation in 56 dyads, including 27 with high-low (HL) autistic traits and 29 with low-low (LL) autistic traits, using functional near-infrared spectroscopy (fNIRS) hyperscanning technique. Cognitive and emotional empathy were also measured. RESULTS: Individuals with high autistic traits had a lower unilateral cooperation rate than did those with low autistic traits; The HL autistic dyads exhibited a lower mutual cooperation rate and reduced interpersonal brain synchronization (IBS) in the right inferior parietal lobule (r-IPL) and right temporoparietal junction (r-TPJ) compared with the LL autistic dyads; Individuals with high autistic traits had significantly lower cognitive empathy scores than did those with low autistic traits, and the cognitive empathy scores had a marginally significant positive correlation with the unilateral cooperation rate and a marginally significant negative correlation with the activation of the right inferior frontal gyrus (r-IFG); Emotional empathy scores did not significantly differ between the high and low autistic groups, and there was a significant positive correlation between emotional empathy scores and the activation of the r-IFG in individuals with high autistic traits. CONCLUSION: This study revealed abnormal cooperation in individuals with high autistic traits from unilateral and mutual behavior neural perspectives, potentially linked to a disability of cognitive empathy.

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15. Mamat M, Chen Y, Shen W, Li L. Molecular architecture of the altered cortical complexity in autism. Mol Autism;2025 (Jan 6);16(1):1.

Autism spectrum disorder (ASD) is characterized by difficulties in social interaction, communication challenges, and repetitive behaviors. Despite extensive research, the molecular mechanisms underlying these neurodevelopmental abnormalities remain elusive. We integrated microscale brain gene expression data with macroscale MRI data from 1829 participants, including individuals with ASD and typically developing controls, from the autism brain imaging data exchange I and II. Using fractal dimension as an index for quantifying cortical complexity, we identified significant regional alterations in ASD, within the left temporoparietal, left peripheral visual, right central visual, left somatomotor (including the insula), and left ventral attention networks. Partial least squares regression analysis revealed gene sets associated with these cortical complexity changes, enriched for biological functions related to synaptic transmission, synaptic plasticity, mitochondrial dysfunction, and chromatin organization. Cell-specific analyses, protein-protein interaction network analysis and gene temporal expression profiling further elucidated the dynamic molecular landscape associated with these alterations. These findings indicate that ASD-related alterations in cortical complexity are closely linked to specific genetic pathways. The combined analysis of neuroimaging and transcriptomic data enhances our understanding of how genetic factors contribute to brain structural changes in ASD.

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16. Manter MA, Birtwell KB, Bath J, Friedman NDB, Keary CJ, Neumeyer AM, Palumbo ML, Thom RP, Stonestreet E, Brooks H, Dakin K, Hooker JM, McDougle CJ. Pharmacological treatment in autism: a proposal for guidelines on common co-occurring psychiatric symptoms. BMC Med;2025 (Jan 7);23(1):11.

BACKGROUND: The prevalence of autism spectrum disorder (ASD) has surged, with an estimated 1 in 36 eight-year-olds in the United States meeting criteria for ASD in 2020. Autistic individuals face elevated rates of co-occurring medical, psychiatric, and behavioral conditions compared to non-autistic individuals. The rising ASD-patient demand is increasingly outpacing the capacity of ASD-specialty clinics, resulting in urgent need for autism-competent providers in general practice settings. This work aims to empower healthcare providers, especially primary care providers (PCPs), with guidelines for the recognition and safe pharmacologic management of common co-occurring psychiatric and behavioral conditions in ASD. METHODS: Lurie Center for Autism medical providers, who have extensive experience in ASD care, delineated approaches for recognition and pharmacological treatment of sleep disturbances, attention-deficit/hyperactivity disorder (ADHD), anxiety, depression, and irritability tailored to ASD patients. Pharmacological guidelines were iteratively refined until consensus was reached. Treatment differences relative to standard of care (SOC) of non-autistic individuals are noted. Key literature and clinical trial results were reviewed to supplement clinical experience. RESULTS: The pharmacological treatment pathways reflect how appropriate medication options for ASD patients can depend on many factors unique to the patient and can differ from established non-autistic SOC. Key takeaways include: For sleep disturbances in ASD, initial strategies align with non-autistic SOC, emphasizing sleep hygiene and melatonin use. First-line recommendations for treating ADHD, anxiety, and depression in ASD differ from non-autistic SOC; α(2)-adrenergic agonists are more suitable than stimulants for some ASD-ADHD patients, buspirone and mirtazapine are preferred to selective serotonin reuptake inhibitors (SSRIs) for anxiety, and duloxetine, mirtazapine, bupropion, and vortioxetine are recommended ahead of SSRIs for depression. Addressing irritability in ASD requires interdisciplinary evaluation of contributing factors, and guanfacine, risperidone, or aripiprazole may be appropriate, depending on severity. CONCLUSIONS: Recognition and treatment of co-occurring psychiatric and behavioral conditions in autistic patients must account for differences in clinical presentation and medication effectiveness and tolerability. Drawing on evidence-based clinical insights, these guidelines seek to support PCPs in making informed decisions when prescribing medications for ASD patients with co-occurring psychiatric and behavioral conditions, ultimately enhancing access to timely, comprehensive care for all individuals with ASD.

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17. McAllister ML, McFayden T, Harrop C. Reports of Echolalia and Related Behaviors in Autism From Parents, Teachers, and Clinicians: Evidence From the Simon Simplex Collection. Autism Res;2025 (Jan 7)

Echolalia, the immediate or delayed repetition of speech, is a core diagnostic criterion for autism spectrum disorder. It has been studied for over 50 years and is well-described; however, no consensus on prevalence estimates exists for echolalia’s occurrence in autistic youth. The current study sought to (1) describe endorsement of echolalia-related items using parent-, teacher-, and clinician-reports in a well-validated sample of autistic youth and (2) characterize relations between echolalia and other key factors, including age, language ability, and repetitive behaviors. Participants (n = 2555, 4-17 years, 13% female, 78% White) from the Simon Simplex Collection provided data from multi-informant ratings of echolalia and related behaviors. Nine parent-, clinician-, and teacher-report items were extracted from five measures to broadly capture echolalia through a composite score. Results indicated that as many as 90% of autistic individuals express echolalia at some point in their development. Hierarchical linear regression was conducted to evaluate relations between echolalia, verbal ability, and repetitive behaviors, controlling for age, sex, and autism severity. Results indicated the main effects of verbal ability and repetitive behaviors. A significant interaction qualified this main effect wherein age was negatively associated with echolalia for children with higher verbal ability, but not those with lower verbal ability, suggesting that adolescents with less generative speech may leverage echolalia as a communicative strategy. Echolalia was positively associated with repetitive behaviors across development. These associations support a dualistic interpretation of echolalia as functional communication and as a form of repetitive behavior. Future research is needed to understand the developmental trajectories of echolalia and develop affirming support for this autistic behavior.

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18. Oliver M, Poysden Z, Crowe E, Parkin F, Mair APA, Hendry N, Macey E, Gillespie-Smith K. « Just Listen to Me. Help Me Explore it. » An Interpretative Phenomenological Analysis Exploring Experiences of Gender Dysphoria, Identity And Resilience in Autistic Adolescents Assigned Female at Birth. J Autism Dev Disord;2025 (Jan 7)

Much of the current autism and gender literature has been based within a medical deficiency model; where both are seen as deficiencies rather than differences. However, there is currently minimal knowledge about the experiences of being an autistic adolescent who is both assigned female at birth and has gender dysphoria (GD), whilst even less is known about their experiences of social identity, self-concept and resilience. This study aims to explore experiences of GD with a particular focus on identity and resilience to promote parent and healthcare staff understanding; particularly around gender-affirming care, to foster positive mental health outcomes. Five assigned female at birth autistic adolescents, who identify as trans men/boys, took part in one-to-one semi-structured interviews, which were analysed using an Interpretative Phenomenological Approach. Five subordinate themes arose; « Having both autism and GD », « Finding where I belong », « Being more than labels », « Trying to cope » and « Making support successful ». Our findings build on current literature and theory regarding the experience of concurrent autism and GD; highlighting its legitimacy, the ways in which autism impacts upon GD and how healthcare approaches and policy can increase accessibility and suitability of gender-affirming care.

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19. Polak-Passy Y, Ben-Itzchak E, Zachor DA. Enhancing social communication behaviors in children with autism: the impact of dog training intervention on verbal and non-verbal behaviors. Front Psychol;2024;15:1496915.

INTRODUCTION: This study investigated the impact of dog training intervention (DTI) on verbal, non-verbal, and maladaptive behaviors in autistic preschoolers. Previous research has demonstrated the benefits of animal-assisted interventions, but this study specifically focused on changes during the DTI. METHODS: We analyzed video recordings of 37 autistic children (mean age 4:7 years, SD = 1:1) from special education preschools, comparing their behaviors during the initial and final intervention sessions. The intervention, consisting of 17 structured stages, progressively introduced the children to dog interactions, ultimately allowing them to act as dog trainers. Behavioral analysis was divided into two main areas: responses to the therapist’s instructions and self-initiated behaviors observed in interactions with the therapist and the dog. RESULTS: Post-intervention results indicated a notable increase in non-verbal communication, with more sustained self-initiated eye contact, gestures, and facial expressions and increased verbal commands directed toward the dog. Improvements were also seen in therapist-prompted gestures and joint attention, and question-answer interactions with the therapist. However, a decrease was observed in self-initiated eye contact, duration of eye contact, and verbal sharing with the therapist. Maladaptive behaviors, such as inappropriate physical contact and repetitive movements, decreased. The study found a moderate negative correlation between autism severity and responsiveness to therapist instructions and a moderate positive correlation between IQ and improvements in therapist responsiveness. DISCUSSION: These findings support the growing evidence for the efficacy of dog-assisted interventions and emphasize the importance of tailoring interventions to individual child characteristics.

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20. Prince N, Peralta Marzal LN, Roussin L, Monnoye M, Philippe C, Maximin E, Ahmed S, Salenius K, Lin J, Autio R, Adolfs Y, Pasterkamp RJ, Garssen J, Naudon L, Rabot S, Kraneveld AD, Perez-Pardo P. Mouse strain-specific responses along the gut-brain axis upon fecal microbiota transplantation from children with autism. Gut Microbes;2025 (Dec);17(1):2447822.

Several factors are linked to the pathophysiology of autism spectrum disorders (ASD); however, the molecular mechanisms of the condition remain unknown. As intestinal problems and gut microbiota dysbiosis are associated with ASD development and severity, recent studies have focused on elucidating the microbiota-gut-brain axis’ involvement. This study aims to explore mechanisms through which gut microbiota might influence ASD. Briefly, we depleted the microbiota of conventional male BALB/cAnNCrl (Balb/c) and C57BL/6J (BL/6) mice prior to human fecal microbiota transplantation (hFMT) with samples from children with ASD or their neurotypical siblings. We found mouse strain-specific responses to ASD hFMT. Notably, Balb/c mice exhibit decreased exploratory and social behavior, and show evidence of intestinal, systemic, and central inflammation accompanied with metabolic shifts. BL/6 mice show less changes after hFMT. Our results reveal that gut microbiota alone induce changes in ASD-like behavior, and highlight the importance of mouse strain selection when investigating multifactorial conditions like ASD.

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21. Rademacher S, Preußner M, Rehm MC, Fuchs J, Heyd F, Eickholt BJ. PTEN controls alternative splicing of autism spectrum disorder-associated transcripts in primary neurons. Brain;2025 (Jan 7);148(1):47-54.

Phosphatase and tensin homologue (PTEN) is the main antagonist of the phosphatidylinositol-3-kinase (PI3K)/AKT/mTOR signalling pathway and mutated in 10%-20% of individuals with autism spectrum disorder (ASD) exhibiting macrocephaly. Hyperactive mTOR signalling is responsible for some aspects during PTEN-ASD progression, e.g. neuronal hypertrophy and -excitability, but PI3K/mTOR-independent processes have additionally been described. There is emerging evidence that PTEN regulates gene transcription, spliceosome formation and pre-mRNA splicing independently of PI3K/mTOR. Altered splicing is a hallmark of brains from individuals with idiopathic and PTEN-ASD, however, molecular mechanisms are yet to be identified. We performed RNA-sequencing (RNA-Seq), followed by analysis of altered transcript splicing in Pten-deficient primary cortical mouse neurons, which we compared with published data from PTEN-deficient human neuronal stem cells. This analysis identified that transcripts were globally mis-spliced in a developmentally regulated fashion and cluster in synaptic and gene expression regulatory processes. Strikingly, splicing defects following Pten-deficiency represent a significant number of other known ASD-susceptibility genes. Furthermore, we show that exons with strong 3′ splice sites are more frequently mis-spliced under Pten-deficient conditions. Our study indicates that PTEN-ASD is a multifactorial condition involving the dysregulation of other known ASD-susceptibility genes.

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22. Soto D, Salazar A, Elosegi P, Walter A, Mei N, Rodriguez E, Petrollini V, Vicente A. Correction to: A novel image database for social concepts reveals preference biases in autistic spectrum in adults and children. Psychon Bull Rev;2025 (Jan 6)

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23. Sun L, Ohashi N, Mori T, Mizuno Y, Zang W, Guo Q, Kouyama-Suzuki E, Shirai Y, Tabuchi K. Adult neurogenesis in the ventral hippocampus decreased among animal models of neurodevelopmental disorders. Front Neural Circuits;2024;18:1504191.

INTRODUCTION: Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by deficits in social interaction and communication, along with restricted and repetitive behaviors. Both genetic and environmental factors contribute to ASD, with prenatal exposure to valproic acid (VPA) and nicotine being linked to increased risk. Impaired adult hippocampal neurogenesis, particularly in the ventral region, is thought to play a role in the social deficits observed in ASD. METHODS: In this study, we investigated social behavior and adult hippocampal neurogenesis in C57BL/6J mice prenatally exposed to VPA or nicotine, as well as in genetically modified ASD models, including IQSEC2 knockout (KO) and NLGN3-R451C knock-in (KI) mice. Sociability and social novelty preference were evaluated using a three-chamber social interaction test. Adult hippocampal neurogenesis was assessed by BrdU and DCX immunofluorescence to identify newborn and immature neurons. RESULTS: VPA-exposed mice displayed significant deficits in social interaction, while nicotine-exposed mice exhibited mild impairment in social novelty preference. Both IQSEC2 KO and NLGN3-R451C KI mice demonstrated reduced adult neurogenesis, particularly in the ventral hippocampus, a region associated with social behavior and emotion. Across all ASD mouse models, a significant reduction in BrdU+/NeuN+ cells in the ventral hippocampus was observed, while dorsal hippocampal neurogenesis remained relatively unaffected. Similar reductions in DCX-positive cells were identified in VPA, nicotine, and NLGN3-R451C KI mice, indicating impaired proliferation or differentiation of neuronal progenitors. DISCUSSION: These findings suggest that impaired adult neurogenesis in the ventral hippocampus is a common hallmark across ASD mouse models and may underlie social behavior deficits. This study provides insight into region-specific neurogenic alterations linked to ASD pathophysiology and highlights potential targets for therapeutic interventions.

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24. Tsai JM, Bhat A. Relationship between service receipt during the COVID-19 pandemic and autistic children’s multisystem outcomes and autism severity: A SPARK dataset analysis. Autism Res;2025 (Jan 7)

Children with autism spectrum disorder (ASD) display a variety of core and co-occurring difficulties in social, communication, everyday functioning, cognitive, motor, and language domains. Receiving a combination of services to accommodate needs of autistic individuals is essential for improving their future outcomes. During the COVID-19 pandemic, reduced service access negatively impacted autistic children’s outcomes. This study aimed to examine the relationship between service receipt and parental perceived outcomes in autistic children while accounting for various demographic, child, and parental factors. We utilized parental COVID-19 impact survey data from the SPARK study (N = 6067). Ordinal logistic regression analyses were used to predict perceived child outcomes. Demographic, child, and parental factors were included in the prediction models. Service receipt of SLT, ABA, PT/OT, MED, and MH were associated with perceived child outcomes. PT/OT and ABA predicted improvements in domains of social interaction, everyday activity, and overall autism severity; SLT and ABA contributed to improved perceived communication outcomes. Receiving MH and MED services was associated with worsening of perceived outcomes on all domains. Younger age, males, higher family income, lower autism severity, lower motor, function, and cognitive delay, greater language delay, and the absence of parental mental health issues were associated with greater improvements in various perceived outcomes. Overall, PT/OT and ABA services are associated with improved perceived social and functional outcomes whereas SLT and ABA services are associated with improved perceived communication outcomes. We also provide a wholistic view of factors affecting relationships between service receipt and perceived child outcomes during the pandemic.

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25. Volk HE, Fortes D, Musci R, Kim A, Bastain TM, Camargo CA, Jr., Croen LA, Dabelea D, Duarte CS, Dunlop AL, Gachigi K, Ghassabian A, Hertz-Picciotto I, Huddleston KC, Joseph RM, Keating D, Kelly RS, Kim YS, Landa RJ, Leve LD, Lyall K, Northrup JB, O’Connor T, Ozonoff S, Ross A, Schmidt RJ, Schweitzer JB, Shuffrey LC, Shuster C, Vance E, Weiss ST, Wilkening G, Wright RO. Co-occurring Psychopathology in Children With and Without Autism Spectrum Disorder (ASD): Differences by Sex in the ECHO Cohorts. J Autism Dev Disord;2025 (Jan 6)

PURPOSE: Our goals were to: 1) examine the occurrence of behavioral and emotional symptoms in children on the autism spectrum in a large national sample, stratifying by sex, and 2) evaluate whether children with increased autism-related social communication deficits also experience more behavioral and emotional problems. METHODS: Participants (n = 7,998) were from 37 cohorts from the Environmental influences on Child Health Outcomes (ECHO) Program. Cross-sectional information on demographic factors, parent-report of an ASD diagnosis by clinician, Social Responsiveness Scale (SRS) scores, and Child Behavior Checklist (CBCL) scores were obtained for children aged 2.5-18 years by surveys. We examined mean differences in CBCL Total Problems and DSM-oriented subscale scores by autism diagnosis and by child sex. Analyses using logistic regression were conducted to examine whether autism was associated with higher CBCL scores. We further examined if these relationships differed by child age category (< 6 years, 6-11 years, 12 + years). The relationships between SRS score and CBCL total and subscale scores were examined using quantile regression models, with analyses adjusted for child sex and age. RESULTS: In ECHO, 553 youth were reported by a parent to have a clinician diagnosis of autism spectrum disorder (ASD) (432 [78%] boys and 121 [22%] girls). Youth on the spectrum had higher mean CBCL raw scores on Total Problems and all DSM-oriented subscales compared to those not on the spectrum (all p < 0.0001). Analyses adjusted for sex and stratified by age group indicated that higher odds of autism diagnosis were associated with total, depression, anxiety, and attention-deficit/hyperactivity disorder (ADHD) scales in the top 30% of the CBCL score distribution. Autistic girls were more likely to have parent-reported depression and anxiety compared to autistic boys. In quantile regression analyses, we observed evidence of stronger associations between SRS and CBCL for those in higher quantiles of CBCL total problems scale score (beta representing 1-unit change in SRS associated with 1-unit increase in CBCL total problems scale score), among children in the 70-90th percentile (β = 1.60, p < 0.01), or top 10th percentile (β = 2.43, p < 0.01) of the CBCL total problems scale score distribution. Similar findings were seen for the DSM-oriented depression, anxiety, and ADHD subscales. CONCLUSION: Results from this large national sample suggest increased behavioral and emotional problems among autistic children compared to non-autistic children throughout early life. Among children on the spectrum this may warrant increased monitoring for co-occurring behavioral and emotional problems.

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26. Wilkinson CL, Chung H, Dave A, Tager-Flusberg H, Nelson CA. Change in aperiodic activity over first year of life is associated with later autism diagnosis and 18-month language development in infants with family history of autism. medRxiv;2024 (Dec 16)

Delays in language often co-occur among toddlers diagnosed with autism. Despite the high prevalence of language delays, the neurobiology underlying such language challenges remains unclear. Prior research has shown reduced EEG power across multiple frequency bands in 3-to-6-month-old infants with an autistic sibling, followed by accelerated increases in power with age. Here we apply new methods to decompose the power spectra into aperiodic (broad band neural firing) and periodic (oscillations) activity to explore possible links between aperiodic changes in the first year of life and later language outcomes. Combining EEG data across two longitudinal studies of infants with and without autistic siblings, we assessed whether infants with an elevated familial likelihood (EFL) exhibit altered changes in both periodic and aperiodic EEG activity at 3 and 12 months of age, compared to those with a low likelihood (LL), and whether developmental change in activity is associated with language development. At 3-months of age, we observed that EFL infants have significantly lower aperiodic activity from 6.7-55Hz (p<0.05). However, change in aperiodic activity from 3 to 12 months was significantly increased in infants with a later diagnosis of autism, compared to EFL infants without an autism diagnosis. In addition, greater increases in aperiodic offset and slope from 3-to12-months were associated with worse language development measured at 18 months. Findings suggest that early age-dependent changes in EEG aperiodic power may serve as potential indicators of autism and language development in infants with family history of autism.

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27. Xiao HL, Zhu H, Zeng TA, Xu F, Yu SH, Yang CJ. Potential similarities in gut microbiota composition between autism spectrum disorder and neurotypical siblings: Insights from a comprehensive meta-analysis. Neuroscience;2025 (Jan 7);567:172-181.

BACKGROUND: Previous studies have explored the differences in gut microbiota (GM) between individuals with autism spectrum disorder (ASD) and neurotypical controls. However, factors such as diet, lifestyle, and environmental exposure influence GM, leading to significant variability, even among neurotypical individuals. Comparing the GM of ASD individuals with neurotypical siblings, who share similar genes and living conditions, may offer better insights into the GM mechanisms associated with ASD. Therefore, this study aims to analyze the GM composition in ASD by comparing it to that of neurotypical siblings, potentially identifying microbiota that influence ASD. METHODS: We explored electronic databases up to July 2024, including EBSCOhost, PubMed, ScienceDirect, Web of Science, and Scopus. Meta-analysis using RevMan 5.4 assessed the relative abundance (RA) of gut bacteria from 8 phyla and 4 genera in ASD individuals and neurotypical siblings. RESULTS: Eight studies were included, involving 248 people with ASD and 197 neurotypical siblings. Significant but unstable differences were observed in the RA of Bacteroidetes, Firmicutes, and Fusobacteria. No significant differences were found in the RA of Proteobacteria, Cyanobacteria, Actinobacteria, Verrucomicrobia, Tenericutes, or Bacteroides, Roseburia, Sutterella, Bifidobacterium. CONCLUSIONS: GM composition in ASD individuals closely resembles that of neurotypical siblings, with only a few unstable differences. This suggests that other crucial bacteria or certain interacting environmental factors play a role. Further studies are needed to gather stronger evidence to uncover the differences in GM and their mechanisms in ASD people.

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28. Zhou Y, Nishimura M, Kawabata H. Gaze behavior when looking at paintings may predict autistic traits. Psych J;2025 (Jan 6)

From infancy, we spend considerable time absorbing social information from the external world. Social information processing, which starts with looking at facial expressions, affects behavior and cognition. Previous research has demonstrated that looking behaviors at social cues such as faces may differ in individuals with autism spectrum disorder (ASD) by using eye-tracking studies with real photographs and movies. However, mixed results have been reported. In this study, we examined whether autistic traits in adults affected gaze behavior when participants viewed paintings. The eye-tracking results indicate that gaze patterns change over time during a 20-s free-viewing task. Although the fixations were not influenced during the first 10 s of the viewing, autistic tendencies affected gaze behavior after the overview of the painting was completed: the higher the autism-spectrum quotient scores, the shorter the fixation duration and the fewer the fixations on the facial areas of the paintings during the latter 10 s of viewing time. This result indicates that the atypical gaze behavior was more likely to be modulated by a generalized attentional process for endogenous orienting with reduced interest in social cues. Gaze patterns of viewing paintings may be used to predict autistic tendencies among people undiagnosed but suspected of having ASD.

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29. Zou M, Han Y, Jin M, Xie W, Shang C, Li T, Feng L, Sun C, Zhang S, Wu L. Supporting access to comprehensive services: A scoping review of national policies related to autism in mainland China. Autism;2025 (Jan 6):13623613241311736.

Policies have been found to play a crucial role in supporting the health and well-being of individuals with autism. Yet, relatively few policy reviews are related to autism, and the current level of autism-associated policies and potential gaps in comparison with the World Health Organization recommendations remain unclear. Our study reviewed autism-associated policies, described policy characteristics, and determined potential policy gaps in mainland China. We conducted a comprehensive search of autism-associated policies from 15 websites of government agencies and public institutions up to December 2022, where 81 of 2504 were retained. We found that 42 of the 81 policies were issued in 2021 and 2022. Twelve of the 15 included ministries were involved in policymaking and fewer than one third of the policy documents were issued by two or more ministries. With respect to recommendations proposed by the World Health Organization (the Comprehensive Mental Health Action Plan 2013-2030 and the Six Building Blocks of Health System), several areas received extensive national attention, including leadership and governance, service delivery, and access to medicines and facility, while there was limited policy attention on the other components. Despite these potential gaps, encouragingly, the nation has increasingly focused on autism groups. This study can provide a basis for future policymaking to provide more comprehensive and better services for individuals with autism.

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