1. Abda H, Murry F. Empowering Fathers: Effectiveness of Brief PRT Training for Bilingual Families of Libyan American Children with Autism to Enhance Communication Skills. J Autism Dev Disord;2025 (Jul 8)

Parent-mediated interventions are becoming essential in addressing the communication challenges faced by children with Autism Spectrum Disorder (ASD). This study evaluated the effectiveness of a brief, structured 6-h father training program in Pivotal Response Treatment (PRT) for increasing social functional utterances (SFUs) in young children with autism spectrum disorder (ASD). The study explored whether bilingual fathers (Arabic and English) could implement PRT motivational techniques with fidelity and how these techniques influenced their children’s communication outcomes.A single-case multiple baseline design was employed with three father-child dyads. Fathers received structured PRT training and applied learned motivational strategies during interactive play sessions at home over an 8-week period. Father fidelity and child SFU frequency were assessed using systematic observation and interobserver agreement measures. All fathers demonstrated increased fidelity in implementing PRT motivational techniques (ranging from 12.77 to 19.14 instances per session). Correspondingly, children exhibited significant improvements in SFUs, with increases from baseline to intervention sessions (ranging from 3.55 to 6.5 SFUs per session). Social validity measures indicated high parental satisfaction, with fathers reporting enhanced engagement and improved parent-child interactions. Findings support the efficacy of brief father training in PRT for improving child social communication skills. The study underscores the importance of father-mediated interventions and highlights cultural considerations in PRT implementation. Future research should explore the long-term impact of brief PRT training across diverse populations and intervention settings.

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2. Ali NE, Tariq N, Naz G, Abalkhail A, Kausar T, Mazhar I, Zia S, Aqib AI, Khan NU. Rett syndrome: advances in Understanding MeCP2 function, potential gene therapies, and public health implications. Mol Biol Rep;2025 (Jul 8);52(1):687.

Rett syndrome (RTT) is a devastating X-linked neurodevelopmental disorder, primarily affecting females, caused by mutations in the MECP2 gene. After a brief period of normal development, affected children experience rapid regression, losing motor and communication skills. Core features include microcephaly, seizures, stereotypic hand movements, and breathing abnormalities. While rooted in neurological dysfunction, growing evidence reveals RTT’s widespread impact extends beyond the brain, implicating MECP2 in multisystem disruption. This review provides a comprehensive overview of RTT’s genetic and neuropathological basis and highlights the significant advances in gene therapy to restore MECP2 function. Notably, adeno-associated virus (AAV)-based approaches have shown promise in preclinical models by improving survival and motor function in RTT mouse models. Recent advancements in AAV vector design have optimized targeted delivery to neurons and enhanced the regulation of MECP2 expression to prevent overexpression-related toxicity. Additionally, nanoparticle-based delivery systems are being explored as non-viral alternatives, offering the potential for improved targeting and safety. These advancements in gene therapy hold promise for RTT, bringing the possibility of effective targeted treatments closer to clinical application. As research continues to unravel RTT’s complex pathophysiology, emerging therapies may offer new hope for improving patient outcomes and quality of life.

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3. Anzelin L, Thiébaut ACM, Leloup L, Lapillonne A, Pierrat V, Tubert-Bitter P, Escolano S, Desplanques L, Granier M, Hanf M, Study Group SI. Longitudinal study of infants born preterm (<33 weeks) or with a very low birth weight in the Ile de France region of France (SEV-IDF programme): cohort profile. BMJ Open;2025 (Jul 7);15(7):e089953.

PURPOSE: The SEV-IDF programme aims to track infants born before 33 weeks of gestation, with very low birth weight (VLBW), neonatal encephalopathy or severe birth anomalies and perinatal disease. It employs an open, prospective, multicentric, population-based cohort approach. This report aims to describe the methodology employed to establish and manage the programme, details regarding follow-up procedures, baseline characteristics of the included infants, and highlights new research opportunities emerging from the « Suivi des Enfants Vulnérables d’Ile-de-France » (SEV-IDF) programme. PARTICIPANTS: The programme aims to (1) detect developmental anomalies early, (2) improve prevention using standardised data, (3) optimise follow-up care and (4) support multidisciplinary research.Eligible participants are infants alive at discharge from the 59 maternities with a neonatal unit of the Île-de-France (IDF) region (France). A network of 567 trained physicians monitors the children’s development at 4 months, 1 and 2 years of corrected age, and 3, 4, 5, 6 and 7 years of age. Collected data include sociodemographic, pregnancy and neonatal characteristics, and standardised child development scores. FINDINGS TO DATE: The programme enrolled 21 175 participants between 2016 and 2023, with 16 461 (77.7%) having a gestational age less than 33 weeks, 1916 (9.0%) others having VLBW, 1525 (7.2%) having encephalopathy and 1273 (6.0%) having another severe birth anomaly. FUTURE PLANS: The collected data will enable the SEV-IDF scientific committee to describe high-risk infants in the IDF region, design evidence-based campaigns to improve the quality and effectiveness of the follow-up as well as conduct research on developmental anomalies in these high-risk infants. Ongoing research currently focuses on anticipating loss to follow-up and early detection of developmental anomalies.

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4. Arslan B, Kizilay E, Turan YE, Verim B, Demirlek C, Demir M, İlhan Ö, Cesim E, Bora E. Computational linguistic investigation in schizophrenia and autism spectrum disorders. Psychiatry Res;2025 (Jul 8);351:116633.

Computational linguistic analysis has been increasingly used to capture formal thought disorder in schizophrenia. Despite promising outcomes, investigations of the computational linguistic disturbances of schizophrenia in a transdiagnostic context are limited. Particularly, shared characteristics, neurodevelopmental origins, and the role of speech in the diagnosis of schizophrenia and autism indicate a need to explore both the commonalities and distinctions in the computational linguistic profiles of these groups. In this study, we investigated the semantic and structural properties of speech samples of 35 patients with schizophrenia spectrum disorder, 25 patients with autism spectrum disorder, and 25 healthy controls in free speech and picture description tasks. Our findings showed that only 5 of 45 features differed between the clinical groups. All of these were from the structural domain, while semantic features did not differ between these neurodevelopmental disorders. The clinical groups demonstrated elevated local and global semantic similarity, and negative sentiment compared to controls. Moreover, the speech of autism spectrum disorder included lower unique word frequency in picture description, alongside shorter pronouns and adverbs in free speech relative to other groups. Schizophrenia spectrum disorder used shorter adjectives than autism spectrum disorder and controls in free speech. Importantly, adjective frequency in schizophrenia spectrum disorder was lower than in autism spectrum disorder in free speech. Overall, our findings demonstrated an extensive dominance of similar computational linguistic traits between schizophrenia and autism spectrum disorders, indicating shared communication disturbances in these disorders. This outcome highlights the critical role of transdiagnostic and neurodevelopmental perspectives in computational linguistic investigations.

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5. Bouargane Z, Lamghari Moubarrad FZ, Anouar Y, Boukhzar L, Bennis M, Ba-M’Hamed S. Hippocampal Morphological Alterations and Oxidative Stress in Autism Spectrum Disorder Model Induced by Prenatal Exposure to Valproic Acid in Male and Female Mice. Hippocampus;2025 (Jul);35(4):e70024.

Valproic acid (VPA), a first-line antiepileptic and mood-stabilizing drug, has been linked to congenital malformations, cognitive disabilities, and an elevated risk of autism spectrum disorder (ASD) when used during pregnancy. ASD is a lifelong developmental disorder characterized by impaired social interaction, repetitive behaviors, and cognitive deficits, with a higher prevalence in males. Growing evidence highlights that hippocampal circuits, particularly CA1 and dentate gyrus (DG) subregions, are crucial for cognitive and social functions often impaired in ASD. Notably, VPA exposure at embryonic day 12.5 (E12.5) coincides with critical neurodevelopmental processes in the hippocampus, making it highly susceptible to oxidative damage and structural disruptions. Using a mouse model of ASD induced by a single prenatal VPA injection (400 mg/kg) at E12.5, this study assessed morphological and oxidative changes in the hippocampus. Male and female offspring were evaluated for core behavioral and cognitive alterations of ASD. After the behavioral tests, their brains were processed for Golgi-Cox staining and antioxidant enzyme dosage. The results showed that prenatal exposure to VPA indeed induces ASD-like behaviors, including reduced sociability, increased repetitive behaviors, and impaired working memory. Sholl analysis showed increased dendritic branching in granule and CA1 pyramidal neurons of VPA male mice, while VPA female mice exhibited hypoarborization in dentate gyrus granule cells. Both male and female VPA mice displayed higher dendritic spine density. Concurrently, oxidative stress was increased in the hippocampi of the VPA mice, as evidenced by alterations in oxidative stress biomarkers. Our work underscores gender differences in the effects of prenatal VPA exposure and points to a possible role for hippocampal neuron morphology and oxidative stress in the pathophysiology of ASD.

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6. Brown K, Taylor CM, Lee-Kelland R. Whole blood lead concentrations in children undergoing autism assessment in a community paediatric clinic: a retrospective cross-sectional study. BMJ Paediatr Open;2025 (Jul 7);9(1)

OBJECTIVE: To investigate blood lead concentrations (BLCs) in children presenting with autistic spectrum disorder (ASD) and associations with clinical presentation (pica, motor delay, language delay and anaemia), age and social deprivation. SETTING: Community-based autism assessment clinics, north Bristol, UK (single-centre, retrospective cross-sectional study). PATIENTS: Children with autism who had BLC measured as part of an autism assessment during a 4-year period from November 2019 to November 2023. MAIN OUTCOME MEASURES: Data were collected from electronic case notes for children who underwent an assessment for ASD during this period, including diagnoses and investigations. RESULTS: 13/102 (13%) children with a diagnosis of autism had BLC ≥0.24 µmol/L, which is above the UK Health Security Agency threshold to trigger further investigation and identification of sources of exposure. Elevated BLC was not associated with the presence of pica or other clinical features including developmental delay. CONCLUSION: Pica and developmental delay were not useful indicators of children with elevated BLC. Their absence could lead to cases of elevated BLC being missed in children with autism. This lends weight to an argument that lead should be screened for routinely in the preschool autism population alongside other common causes of behavioural difficulties and developmental delay such as anaemia.

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7. Doctor KP, McKeever C, Wu D, Phadnis A, Plawecki MH, Nurnberger JI, Jr., José JV. Deep learning diagnosis plus kinematic severity assessments of neurodivergent disorders. Sci Rep;2025 (Jul 8);15(1):20269.

Early diagnostic assessments of neurodivergent disorders (NDD), remains a major clinical challenge. We address this problem by pursuing the hypothesis that there is important cognitive information about NDD conditions contained in the way individuals move, when viewed at millisecond time scales. We approach the NDD assessment problem in two complementary ways. First, we applied supervised deep learning (DL) techniques to identify participants with autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), comorbid ASD + ADHD, and neurotypical (NT) development. We measured linear and angular kinematic variables, using high-definition kinematic Bluetooth sensors, while participants performed the reaching protocol to targets appearing on a touch screen monitor. The DL technique was carried out only on the raw kinematic data. The area under the receiver operator characteristics curve suggests that we can predict, with high accuracy, NDD participant’s conditions. Second, we filtered the high frequency electronic sensor noise in the recorded kinematic data leaving the participants’ physiological characteristic random fluctuations. We quantified these fluctuations by their biometric Fano Factor and Shannon Entropy from a histogram distribution built from the magnitude difference between consecutive extrema unique to each participant, suggesting a relationship to the severity of their condition. The DL may be used as complementary tools for early evaluation of new participants by providers and the new biometrics allow for quantitative subtyping of NDDs according to severity.

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8. El-Ashram REM, Aldaghmi OA, Mohammed SM. Perceptions of Special Education Professionals in the Kingdom of Saudi Arabia Regarding the Integration of Artificial Intelligence in Diagnosing Autism Spectrum Disorder. J Autism Dev Disord;2025 (Jul 8)

Autism spectrum disorder (ASD) diagnosis often presents challenges due to its complexity and reliance on subjective clinical assessments, potentially leading to delays in identification and intervention. Artificial intelligence (AI) holds significant promise for transforming healthcare, including the potential to improve the accuracy, efficiency, and timeliness of ASD diagnosis. This study investigated the perspectives of 423 specialists in special education across the Kingdom of Saudi Arabia (KSA) on the requirements and challenges associated with integrating AI technologies into the ASD diagnostic process. Utilizing a descriptive survey methodology and a authors-developed questionnaire, we explored specialists’ perceptions of AI implementation’s financial, human, and regulatory aspects. According to our research, financial, human, and regulatory resources are seen to be crucial for a successful AI integration. However, a major barrier identified was the lack of awareness among specialists regarding the potential benefits and applications of AI in ASD diagnosis. These findings underscore the need for targeted interventions, including strategic investment in training programs, infrastructure development, and awareness campaigns, to facilitate the seamless integration of AI into the ASD diagnostic landscape in KSA. By addressing these requirements and challenges, we can pave the way for more accurate, efficient, and timely ASD diagnosis, ultimately resulting in better results for families and people with ASD.

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9. Gao Y, Li R, Ma Q, Bartholomay KL, Lightbody AA, Reiss AL. Aberrant neural activation during inhibitory control in girls with fragile X syndrome. Cereb Cortex;2025 (Jul 1);35(7)

Fragile X syndrome (FXS) is a genetic condition associated with risk for deficits in executive function, especially response inhibition. Under a clinical setting, this study employs a mobile neuroimaging technique, functional near-infrared spectroscopy (fNIRS), to examine differences in inhibition-elicited neural activation between girls with FXS and a control group matched for age, cognitive function, and clinical symptoms. fNIRS data were collected from 42 girls with FXS and 31 controls during a go/nogo task, with valid data available from 35 and 30 respectively. Relative to the control group, girls with FXS showed higher brain activation (NoGo>Go) in the right dorsolateral prefrontal cortex (DLPFC), angular gyrus, precentral gyrus, and left frontal pole, and lower activation in the right ventrolateral prefrontal cortex, frontal pole, precentral cortex, middle temporal cortex, parietal lobe, and left superior temporal cortex. A significant positive correlation was found between DLPFC activation and response inhibition deficits in girls with FXS. Girls with FXS show abnormal neural activation in response to inhibitory stimulus. Aberrant neural activation in DLPFC in girls with FXS is associated with executive function deficits. fNIRS is established to allow participants to engage in a task in relatively more « real world » conditions compared to the scanner environment.

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10. Giniatullin R, Cherubini E. Gabaergic signalling in Autism Spectrum disorders (ASD): Role of glial cells and therapeutic perspectives. Brain Behav Immun;2025 (Jul 5);129:681-689.

During postnatal development, GABA, the major inhibitory neurotransmitter in the adult brain, depolarizes immature neurons via an outward flux of chloride. This effect results from the high intracellular chloride concentration due to activity of the cation- chloride importer NKCC1. GABA induced depolarization gives rise to Giant Depolarizing Potentials (GDPs), a primordial form of coherent network oscillations involved in neuronal networks refinement. After a critical postnatal period, the increased expression of the chloride exporter KCC2, shifts GABA’s action from depolarizing to hyperpolarizing, a process altered in many neurodevelopmental disorders including ASD. The development of sharp waves ripples, a form of network oscillations implicated in memory consolidation, is controlled by GABAergic signalling at the axon initial segment (AIS). The formation and functioning of the AIS are monitored by a special subtype of microglia located at AIS axo-axonic synapses. The persistent depolarizing action of GABA beyond the critical period or its early hyperpolarizing action, as well as aberrant formation/function of AIS, lead to changes in neuronal circuits responsible for cognitive dysfunctions in ASD. In this review, considering various models of ASD, we discuss the multifaceted role of GABA, the regulation of cation-chloride cotransporters by astrocytes and microglia, the functional role of the latter in AIS, and the emerging role of brain-derived neurotrophic factor in ASD. Accordingly, we present novel therapeutic strategies which, could reinstate a proper chloride homeostasis and GABAergic signalling in selective neuronal circuits involved in behavioural and cognitive deficits observed in ASD.

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11. Halls D, Leppanen J, Williams S, Tchanturia K. Longitudinal study of socio-emotional cognitive processing in individuals with anorexia nervosa and the impact of autistic characteristics on neural processing. Front Psychol;2025;16:1583417.

BACKGROUND: Difficulties in socio-emotional cognitive processing are a key feature in individuals with anorexia nervosa (AN); however, the underlying neural processing, particularly longitudinal, is poorly understood. Compounding difficulties is the presence of overrepresented autistic characteristics, and it is unclear how these impact socio-emotional cognitive neural processing in individuals with AN. METHOD: A total of 92 participants, including 65 individuals with AN and 27 controls, took part in a longitudinal assessment at two time points, approximately 2 years apart, by undertaking socio-emotional cognitive tasks while undergoing functional magnetic resonance imaging (fMRI). A multivariate approach was used to predict autistic characteristics from generated maps from the AN group. RESULTS: A group-by-time interaction effect was demonstrated in several brain regions in response to tasks, with the regions with the strongest evidence being the right frontal operculum/pole. The multivariate approach revealed a wide distribution of brain regions contributing to autistic characteristics. CONCLUSION: Neural changes over time in the right frontal operculum/pole potentially represent a compensatory mechanism for cognitive difficulties. Autistic characteristics in individuals with AN are instantiated and impact a wide distribution of neural regions, particularly during socio-emotional cognitive processing.

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12. Holloway-George CA, Munro N, Jackson J, Ropar D. Experiences of Autistic People in Police Custody: The Need for Adjustments to Improve Participation in the Custody Process. J Autism Dev Disord;2025 (Jul 8)

The aim of this study was to understand what influences autistic people’s experiences of police custody and how their participation in the custody process may be affected. In addition, the study aimed to understand what strategies may mitigate any potential difficulties autistic people have in police custody. Twelve autistic people were interviewed about their experiences of being detained in police custody as suspects and their views on how to improve support in this setting. Participants described how the combined impact of not being able to understand their arrest and detention as suspects and having to cope with the demands associated with being detained in the custody environment, adversely affected their participation in the custody process. They referred to experiencing a desire to escape police custody which influenced the how they made key decisions and engaged in the police interview. Because of these negative experiences and potential consequences, participants also discussed the importance of making adjustments in order to mitigate the potential impact on their participation in the custody process. The findings illustrate how the overall experiences of autistic people are influenced by the combination of the difficulties experienced by autistic people understanding their arrest and detention, being able to cope with the custody environment and the detrimental impact this can have on their participation in the custody process. They also demonstrate the importance of making adjustments to support their participation in the custody process.

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13. Kawabe H, Kawakami S, Fujita A, Yamamura J, Senju A, Tsuchiya KJ, Nishimura T. Impact of ADHD Coexistence on Internet Addiction Symptoms in Children with ASD: Effects of Family- and School-Related Factors and Sex Differences. J Autism Dev Disord;2025 (Jul 8)

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14. Kostet I. The (in)visibilisation of ‘ethnicity’, ‘race’ and ‘culture’ as constructs of difference in Global North autism disparities research. Autism;2025 (Jul 8):13623613251355247.

Research evidences significant ethnic and racial disparities in the identification and diagnosis of autism in Global North contexts, sparking interest in how cultural factors contribute to these disparities. Despite this interest, however, the concept of ‘culture’ remains underdeveloped in autism research, where ethnic, racial, and other social categories are also often conflated. This has led to selective and limited explanations of how ‘culture’ influences the observed disparities. This commentary article discusses how autism research on the observed disparities in Global North contexts tends to hyper-visibilise ethnicity and race as proxies for ‘differences’, perpetuating cultural essentialist explanations for inequalities in diagnostics and social services. At the same time, research exploring autism as a constructed and negotiated ‘culture’ and ‘identity’ nearly renders ethnicity and race invisible. Consequently, little is known about how autism is initially shaped in intersection with ethnicity and race, how we collectively envision autistic individuals, and the extent to which our collective images are ethnically or racially diverse. This article advocates for a broader definition of culture in autism scholarship, emphasising how autism disparities also result from how autism is constructed and negotiated through processes of meaning-making.Lay abstractResearch shows that people from ethnic and racial minority groups in North America and Europe are confronted with major inequalities in the identification and diagnosis of autism. This has led to growing interest in autism research in how cultural factors might contribute to these differences. However, the way ‘culture’ is understood in autism research is still limited. Often, ethnic, racial and national backgrounds are mixed together, leading to narrow explanations for why these disparities exist. Concretely, this article explores how autism research often highlights ethnicity and race as markers of ‘difference’, which can reinforce oversimplified ideas about why these diagnostic inequalities occur. On the contrary, when autism is studied as a social identity or culture, ethnicity and race are almost ignored. Because of this, we know very little about how society imagines autistic people, and how diverse these images actually are in ethnic or racial terms. This study argues for a broader understanding of ‘culture’ in autism research, urging scholars to consider how autism is often viewed as primarily a ‘white’ condition through cultural and social interpretations. This approach could help better understand and address the disparities in autism diagnosis.

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15. Lanciano T, Petri G, Gili T, Bonchi F. Contrast subgraphs catch patterns of altered functional connectivity in autism spectrum disorder. Sci Rep;2025 (Jul 7);15(1):24265.

Despite the breakthrough achievements in understanding structural and functional alterations of brain connectivity in autism spectrum disorder (ASD), the exact nature and type of such alterations are not yet clear due to conflicting reports of hyper-connectivity, hypo-connectivity, and-in some cases-combinations of both. In this work, we bring order to the debate using a network comparison technique to capture mesoscopic-scale differential patterns of functional connectedness. In particular, we leverage recent algorithmic advances in extracting contrast subgraphs to identify maximally different mesoscopic connectivity structures between two sets of networks from typically developed individuals and ASD subjects across different developmental stages. A significantly larger connectivity among occipital cortex regions and between the left precuneus and the superior parietal gyrus was found in ASD subjects. At the same time, reduced connectivity characterized the superior frontal gyrus and the temporal lobe regions. More importantly, our results reconcile within a single framework multiple previous separate observations about functional connectivity alterations in ASD.

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16. Liu S, Liu X, Duan Y, Huang L, Ye T, Gu N, Tan T, Zhang Z, Sun J. PIEZO2 is the underlying mediator for precise magnetic stimulation of PVN to improve autism-like behavior in mice. J Nanobiotechnology;2025 (Jul 8);23(1):494.

The precision magnetic stimulation system (pMSS), mediated by superparamagnetic iron oxide nanoparticles (SPIONs), can modulate endogenous oxytocin secretion by targeting the paraventricular nucleus (PVN) and improve autistic-like behavior in mice. In this study, the underlying mechanisms of this system were explored. Our findings demonstrate that pMSS bi-directionally regulates oxytocin secretion, inhibiting secretion at a low frequency (1 Hz) and promoting secretion at a high frequency (10 Hz). Transcriptome screening and replicate validation reveal that 10 Hz-pMSS promotes the expression of mechanosensitive Piezo2 channels on oxytocinergic neurons, increasing neuronal calcium influx and activating oxytocin and PI3K-Akt signaling pathways. Specific knockdown of Piezo2 in PVN blocks the effect of 10 Hz-pMSS, improving autistic-like behavior in mice. Mechanistically, valproic acid-induced autism model mice exhibit low oxytocin secretion and inhibition of neurite growth, and magnetomechanical stimulation by 10 Hz-pMSS can reverse these differences. Thus, 10 Hz-pMSS targeting the PVN rapidly reduces autistic-like behaviors in mice mediated by activation of Piezo2 in the PVN, increased neuronal calcium influx, and alterations in oxytocin secretion and neurite growth.

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17. Rosselló J, Celma-Miralles A, Martins MD. Visual recursion without recursive language? a case study of a minimally verbal autistic child. Front Psychiatry;2025;16:1540985.

The human faculty to generate an infinite set of structured expressions in language, present in most cultures and normal ontogeny, is the most substantial evidence of the human capacity for recursion. In contrast, strong evidence of this capacity in other domains has been sparse, inviting the speculation that recursion is primarily linguistic and co-opted into other domains. Here, we present a case report of a minimally verbal 11-y.o. autistic child with poor language comprehension whose speech rarely exceeds two-word commands despite remarkable hyperlexia (i.e., mechanical reading in Spanish, Catalan, and English) and a visually-based, mainly nominal lexicon acquired through reading. Importantly, medium-range scores in visual tasks and hyperlexia suggest that he can detect complex visual patterns despite low fluid intelligence. Against this background, we tested whether this child could represent recursive hierarchical embedding in vision, despite no evidence of it in language. We found that 1) his accuracy was above chance and 2) it was not significantly different from that of typically developing children. Accordingly, we suggest that a core capacity of recursion, interfacing with a sensory modality and a visuospatial conceptual system, is sufficient to process recursive patterns in vision. In contrast, linguistic recursion may require more complex sensorimotor and conceptual-intentional machinery.

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18. Tiznobeik A, DuBay M, Dadgar H, Zarafshan H, Shariatpanahi G. Translation, Cultural Adaption, and Examination of the Psychometric Properties of the Persian Version of « First Year Inventory, » an Autism Screening Tool. J Autism Dev Disord;2025 (Jul 8)

Autism Spectrum Disorders (ASD) is a neurodevelopmental disorder with challenges in social communication and restricted, repetitive behaviors. Early diagnosis is vital for effective interventions. In low- and middle-income countries like Iran, reliable screening tools for ASD are scarce. This study aims to translate, culturally adapt, and evaluate the psychometric properties of the Persian version of the « First Year Inventory, version 2 » (FYI) for use in Iran. The FYI was translated into Persian using the Watson and DuBay (2019) method. A panel of ten experts assessed its validity. Based on their feedback, necessary cultural and linguistic adjustments were made. A pre-test was conducted with parents of typically developing infants, and psychometric properties such as test-retest reliability, internal consistency, and criterion validity were evaluated. The study translated and culturally adapted the FYI for screening ASD in 12-month-old infants. Data from 110 participants showed good psychometric properties, with excellent discriminative ability in distinguishing ASD from typically developing infants and children with developmental delays. The adaptation of FYI addressed linguistic, cultural, and technical challenges, confirming its applicability in Iran. The tool showed strong validity and reliability in distinguishing ASD. However, cultural nuances in the social-communication domain highlighted the need for further refinement. Future research should focus on larger samples and integrate FYI with other diagnostic tools for improved screening accuracy.

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19. Treccarichi S, Vinci M, Cirnigliaro L, Messina A, Palmigiano A, Pettinato F, Musumeci A, Chiavetta V, Saccone S, Sturiale L, Calì F, Barone R. MAN2A2-related glycosylation defects in autism and cognitive delay. Sci Rep;2025 (Jul 8);15(1):24471.

Glycosylation is a post-translational modification essential for proper protein folding and function, with significant roles in diverse biological processes, including neurogenesis. MAN2A2 enzyme is required for proper N-glycan trimming/maturation in the N-glycosylation pathway. Whole-exome sequencing of a trio revealed two potentially causative variants in the MAN2A2 gene in a patient with autism spectrum disorder (ASD) and cognitive delay. The first variant, c.1679G > A (p.Arg560Gln), was inherited from the unaffected father. It is located within the alpha-mannosidase middle functional domain, a region essential for mannose metabolism and alpha-mannosidase enzymatic activity. The second variant, c.3292C > T (p.Gln1098Ter), was inherited from the mother and it generated a premature stop codon. These variants resulted in a compound heterozygous condition in the patient. Prediction using the DOMINO tool suggested an autosomal recessive inheritance pattern. Notably, the MAN2A2 gene is highly expressed in several brain regions. The encoded enzyme, an alpha-mannosidase, is localized to the Golgi apparatus, the cellular organelle where the processing and maturation of N-glycans occurs. In silico analyses consistently classified both variants as likely pathogenic, supported by structural prediction analyses that indicated significant disruptions in protein architecture. Glycosylation analyses demonstrated impaired N-glycosylation, evidenced by the accumulation of immature serum glycoprotein N-glycans including disease-specific hybrid-type species. Further investigations are essential to elucidate the role of this gene in ASD and cognitive delay.

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20. Tromans SJ, Sawhney I, Odiyoor M, de Villiers J, McCarthy J, Boer H, Alexander R, Wallace S, Gangadharan S, Roy A, Blake A, Purandare K, Iyer A, Laugharne R, Weisner V, Shankar R. Long-term segregation and seclusion for people with an intellectual disability and/or autism in hospitals: a critique of the current state of affairs: commentary, Tromans et al. Br J Psychiatry;2025 (Jul 8):1-2.

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21. Vinogradova Y, Jack RH, Prasad V, Coupland C, Morriss R, Hollis C. Guidelines and practice on antipsychotics prescribing and physical health monitoring in children and young people: a cohort study using primary care data. BMJ Ment Health;2025 (Jul 8);28(1)

BACKGROUND: Antipsychotic treatments require physical health monitoring (PHM), especially among children and young people (CYP). OBJECTIVE: For CYP aged 5-17, to investigate recorded indications for antipsychotics prescribing and first-treatment durations, and, for psychosis, bipolar disorder, autism spectrum disorder (ASD) and Tourette’s syndrome, recorded levels of PHM for CYP with antipsychotics prescriptions and those without. METHODS: All CYP registered with QResearch English general practices between 2006 and 2021 were considered. To quantify PHM, 2158 CYP with antipsychotics prescriptions and 22 151 CYP with a condition but no prescriptions were followed for 2 years. FINDINGS: 47% (2363) of CYP with antipsychotics prescriptions had a recorded mental health condition of interest (of which 62% were ASD). 19% (921) had no relevant indication. For patients with ASD and Tourette syndrome, top quartiles for initial exposure to antipsychotics were >10 months. Recorded PHM was generally low, with over 50% of CYP showing no blood test during the 2-year follow-up. CONCLUSIONS: Coverage of best practice is uneven across the condition-related national CYP guidelines, and this requires improvement. However, we suspect some apparently poor adherence to best practice also derives from treatment complexities and associated data flows leading to gaps in the encoded general practice data. To audit more exactly clinical practice against guidelines, we propose qualitative studies, targeted to cover the full range of local circumstances, nationally. CLINICAL IMPLICATIONS: General practices should be encouraged to prioritise encoding of all treatment data. Development of one central gold-standard set of recommendations for antipsychotics use could encourage better adherence levels across conditions.

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22. Walker K, Gates JA, Boateng S, Gerber A, Gurba A, Moskowitz L, Lerner MD. Racial and Socioeconomic Disparities in Autism Providers’ ACEs Inquiries. J Autism Dev Disord;2025 (Jul 8)

Autistic individuals experience Adverse Childhood Experiences (ACEs), including neglect, abuse, and financial stress, at above-average rates. However, little is known regarding the factors influencing whether autism community-based providers conduct ACEs inquiries in their practice. Racial, ethnic, and socioeconomic status (SES) group disparities persist in healthcare and may exist in providers’ ACEs inquiries. Whether autism community-based providers inquire about ACEs differently between racial, ethnic, and SES groups has not been studied. Understanding potential variations in inquiry rates is crucial, as inquiring can lead to the identification of ACEs and service provision. To investigate whether community providers’ ACEs inquiries differ, we surveyed providers (N = 567) serving autistic individuals ages 7-22 years. Logistic regression using generalized estimating equations estimated the association between racial, ethnic, and SES groups providers reported serving and frequency of ACEs inquiries. Considering overall inquiries (i.e., if providers ever inquired) obscured significant specific inquiry discrepancies (i.e., variation in eight ACEs inquiries by groups served). Specific inquiries models revealed that providers serving Black, Native American, high, and low SES individuals reported higher odds of inquiring about various ACEs. In contrast, providers serving Asian individuals reported inquiring less about particular ACEs. The specific characteristics of the population served by providers may influence their ACEs inquiries. Further investigations are needed to reveal factors underlying gaps in ACEs inquiries across groups and narrow such disparities.

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23. Wankhade T, Thakre N, Tadas M, Katariya R, Umekar M, Kotagale N, Taksande B. Sex-specific neuroprotection: Does BDNF shield girls from autism?. Mol Cell Neurosci;2025 (Jul 8):104028.

Autism Spectrum Disorder (ASD) exhibits a clear male bias, with males being approximately four times more likely to be affected than females. This difference has sparked curiosity about possible neurological elements that provide protection to females. One such neurological element that has shown promise is brain-derived neurotrophic factor (BDNF), essential for neuronal development, synaptic plasticity, and neuroprotection. ASD may be less common in females due to increased BDNF levels, which may be influenced by sex-specific epigenetic control and estrogen hormone. Research studies indicate that increased baseline BDNF in females promotes neurodevelopmental resilience and mitigates the environmental and genetic risk factors linked to ASD. Also, this protective impact may be enhanced by the regulatory function of estrogen in BDNF expression and the interaction of BDNF with X-linked genes. The processes by which BDNF contributes to sex differences are still not well understood despite strong evidence. Interpreting results is made more difficult by the variability of ASD symptoms and variations in study methodologies. In addition to that, it is yet unknown whether increased BDNF levels represent compensatory processes or actually provide protection. Longitudinal studies that monitor BDNF expression across developmental stages and look at sex-specific treatment approaches that target BDNF pathways should be the main focus of future research. Thus, a thorough understanding of how BDNF prevents sex differences in ASD may pave the way for innovative strategies destined to diminish the risk of ASD. In this milieu, this review explores the current research, highlighting the complex relationship between sex differences, BDNF, and the incidence of ASD.

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24. Wei C, Qiang R, Yu W. [Analysis of MECP2 gene variants and X chromosome inactivation in four children with Rett syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi;2025 (May 10);42(5):568-573.

OBJECTIVE: To investigate the X-chromosome inactivation (XCI) patterns and origin in four children with Rett syndrome (RTT), and to explore the genetic basis of their phenotypic variability. METHODS: Four pediatric RTT cases diagnosed at Northwest Women’s and Children’s Hospital between August 1, 2022 and October 31, 2024 were enrolled. Clinical data were collected, and whole exome sequencing (WES) and Sanger sequencing were performed on the children and their parents to identify pathogenic variants. XCI analysis and linkage studies were conducted to determine the origin of variants and assess skewed XCI. This study was approved by the Medical Ethics Committee of the Northwest Women’s and Children’s Hospital (Ethics No. 21-036). RESULTS: WES and Sanger sequencing revealed that the four children carried the following MECP2 (NM_001110792.2) variants. c.916C>T (p.Arg306Cys), c.842delG (p.G281Afs*20), c.763C>T (p.R255X), and c.686C>T (p.Pro229Leu). The c.916C>T variant was maternally inherited, while the other three were de novo. All four variants have been previously reported: c.916C>T, c.842delG, and c.763C>T were classified as pathogenic, whereas c.686C>T was deemed likely pathogenic. XCI analysis demonstrated skewed inactivation in child 2 and 3 and their mothers, with maternal X-chromosome recombination during gametogenesis observed in child 3. All variants were located on the maternal X chromosome. CONCLUSION: Skewed XCI is a common pathogenic mechanism in MECP2-related RTT, and MECP2 variants may exhibit a maternal origin bias. Clinical evaluation should incorporate XCI status for comprehensive genetic analysis.

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25. Wieckowski AT, de Marchena A, Dickerson AF, Frick E, Perez Liz G, Dubin A, Robins DL. Short report: Autism diagnostic impressions in young children formed by primary care clinicians and through telemedicine expert assessments. Autism;2025 (Jul 8):13623613251355257.

Formal autism diagnosis is often critical for children to access early, autism-specific services and supports. However, barriers to traditional in-person evaluations, including long waitlists, delay diagnosis. The goal of the current study was to compare diagnostic impressions (i.e. clinical judgments) made by primary care clinicians and autism experts conducting brief telehealth sessions, with expert diagnosis from in-person gold-standard evaluations. Participants were toddlers (n = 32, age 12-36 months) referred for any developmental concerns by four primary care clinicians from one pediatric practice in the United States. Primary care clinicians indicated their diagnostic classification and families then completed telehealth evaluations and in-person evaluations with one of five autism diagnostic expert clinicians. When primary care clinicians classified a child as having definite autism (n = 11), they were 100% accurate, but only 57% accurate when they indicated a child definitely did not have autism. Experts providing classification after a telehealth evaluation accurately classified 72% of children and were confident in the diagnosis for 55% of cases. In high-confidence cases, telehealth diagnosis matched final diagnosis 88% of the time. These findings indicate that when primary care clinicians believe a toddler is autistic, or when autism experts indicate autism telehealth classification with confidence, the child should begin receiving autism-specific services and supports right away.Lay abstractThere are long waitlists for autism evaluations, which greatly delay the start of interventions that are known to improve children’s outcomes. We tested the accuracy of primary care clinicians’ impressions of autism versus other developmental delays during well-child visits, and of experts during brief telemedicine visits, and found that more than half of the children were accurately identified through these streamlined methods. These findings support a tiered approach in which children identified through these more efficient methods begin autism intervention immediately; this approach also benefits children with more complex differentials by shortening waitlists for comprehensive evaluations for those who require them prior to treatment entry.

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26. Zheng J, Chen J, Zhang Q, Ying L, Huang H, Yang J, Chen Z. Association between maternal asthma and ASD/ADHD in offspring: A meta-analysis based on observational studies. NPJ Prim Care Respir Med;2025 (Jul 8);35(1):32.

This meta-analysis aims to examine the association between maternal asthma and autism spectrum disorder (ASD) or attention deficit hyperactivity disorder (ADHD) in offspring. A literature search was performed in PubMed, Web of Science, Embase, and the Cochrane Library from electronic database inception to October 2024 for studies on the relationship between asthma and ASD/ADHD. The definition of maternal asthma was « asthma existing prior to childbirth ». The primary outcome was the incidence of ASD/ADHD in the offspring. This meta-analysis incorporated 5 cohort studies and 7 case-control studies. The statistical results suggested that there is a higher incidence of ASD (odds ratio (OR) = 1.36, 95% confidence interval (95%CI) = 1.28-1.44, P < 0.001) and ADHD (OR = 1.43, 95% CI = 1.37-1.51, P < 0.001) in offspring with maternal asthma compared to the control group. The subgroup analysis revealed that there was no difference in ASD incidence between maternal asthma group and control group in subgroup of female (OR = 1.81, 95%CI = 0.72-4.25, P = 0.205). However, in subgroup of male, the incidence of ASD was higher in the maternal asthma group than the control group (OR = 1.28, 95%CI = 1.01-1.61, P = 0.04). Furthermore, an elevated incidence of ADHD was observed in the maternal asthma group compared to the control group, both in male offspring (OR = 1.36, 95%CI = 1.30-1.42, P < 0.001) and female offspring (OR = 1.45, 95%CI = 1.38-1.53, P < 0.001) subgroups. This study indicates that maternal asthma may have a potential association with ASD and ADHD in the offspring.

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