1. Genes that increase the risk of autism are shared across ancestries. Nat Med;2026 (Mar 30)

Lien vers le texte intégral (Open Access ou abonnement)

2. Aydin Ü, Wang Z, Gyurkovics M, Tong A, Cullen G, Ahmed S, Palmer J, McLoughlin G. ADHD polygenic risk predicts neural signatures of cognitive control: Evidence from midfrontal theta dynamics. Transl Psychiatry;2026 (Mar 31);16(1)

Cognitive control mechanisms ensure goal-directedness in behaviour. Difficulties in cognitive control are well-established in conditions such as attention-deficit/hyperactivity disorder (ADHD) and autism. On the neural level, midfrontal theta (4-8 Hz) activity has emerged as a reliable correlate of cognitive control processes. Previous findings showed alterations in theta-based signals in both ADHD and autism, most notably an increase in the variability of theta phases across trials in cognitive control tasks, which was predictive of increased response time variability (RTV) as well. Crucially, recent work on twin studies has provided strong evidence for the genetic underpinning of these associations. Here, for the first time, we investigated whether polygenic scores (PGS) for ADHD and autism can predict RTV and EEG-derived theta-based measures of cognitive control in 454 participants. We found that PGS for ADHD, but not autism, accounted for a significant proportion of the variance in theta phase variability, captured via inter-trial coherence (ITC), in the well-standardised arrow-flanker task (2.5% of total variance, corresponding to 3.3% of the reliable variance). Furthermore, theta-ITC showed excellent test-retest reliability in our sample, indicating psychometric robustness, which in turn, further strengthens our findings. These results provide robust evidence linking genetic risk to neural measures and suggest that core dysregulation of the temporal coordination of control processes in ADHD is under genetic influence.

Lien vers le texte intégral (Open Access ou abonnement)

3. D’Incal CP, Dierckx B, Vingerhoets C, van Haelst M, Annear DJ, Van Dijck A, Bastini L, Konings A, Elinck E, Mateiu L, van Eeghen AM, Kooy RF. Correction: A missense variant in the KH0-domain of FMRP downregulates the protein in a patient with the clinical hallmarks of fragile X syndrome. Eur J Hum Genet;2026 (Mar 31)

Lien vers le texte intégral (Open Access ou abonnement)

4. Domaradzki J. « It’s not about being a parent-therapist, but simply a parent »: the silent pillars of autism care – a qualitative study of fathers’ experiences. BMC Psychiatry;2026 (Mar 30)

Lien vers le texte intégral (Open Access ou abonnement)

5. Eroğlu G. Neuroimmune Clearance and EEG Biomarkers: A Unified Model of ASD and Dyslexia. Neural Plast;2026;2026(1):e6347511.

Recent advances in neuroimmunology and cerebrovascular biology have highlighted the important roles of microglial synaptic pruning and the brain’s meningeal lymphatic system in shaping neural circuits during development. Disruptions in one or both of these systems have been reported in neurodevelopmental conditions such as autism spectrum disorder (ASD) and developmental dyslexia. This review synthesizes existing evidence suggesting that impaired meningeal lymphatic clearance may be associated with sustained neuroinflammatory states, which in turn could alter microglial homeostasis and contribute to dysregulated synaptic pruning. We propose a testable theoretical framework linking these cellular and vascular processes to electrophysiological signatures measured by electroencephalography (EEG), while explicitly acknowledging that the majority of available evidence is correlational rather than causal. Reported alterations in EEG frequency bands-such as increased slow-wave power or disrupted oscillatory coordination-are discussed as potential circuit-level correlates of underlying neuroimmune dysregulation, rather than definitive mechanistic outcomes. Drawing on findings from both human and animal studies, we outline an integrative conceptual model describing how clearance dysfunction and microglial abnormalities may be associated with patterns of cortical underconnectivity or hyperconnectivity observed in ASD and dyslexia. Rather than establishing causality, this framework aims to generate hypotheses and guide future multimodal investigations combining neuroimmune markers, lymphatic imaging, and electrophysiological measures to evaluate the translational potential of EEG-informed biomarkers in developmental disorders.

Lien vers le texte intégral (Open Access ou abonnement)

6. Hanno Y, Nakanishi M, Takase A, Nomura J, Tanaka M, Iida Y, Tanaka M, Hosokawa H, Ito M, Mikami K, Hozumi K, Miyoshi G, Takumi T, Iijima T. Targeting notch signaling to restore neural development and behavior in mouse models of ASD. Nat Commun;2026 (Mar 30);17(1)

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with diverse genetic and environmental origins, yet whether these factors converge on common molecular pathways remains unclear. This study identifies dysregulation of the Notch signaling pathway as a shared mechanism in both hereditary and nonhereditary ASD models. Aberrant histone deacetylase 3-mediated epigenetic regulation of Notch signaling during embryonic forebrain development disrupts the specification of vasoactive intestinal peptide (VIP + ) GABAergic interneuron subtypes (VIP-INs), which originate in the caudal ganglionic eminence (CGE). CGE-specific ablation of Notch1/2 genes in ASD models restores the loss of VIP-INs, normalizes maladaptive excitatory and inhibitory balance, and selectively improves social behaviors. A single antenatal dose of a γ-secretase inhibitor ameliorates multiple ASD-associated neuronal, behavioral, and transcriptomic changes in adult models. The study indicates a strong convergence of ASD-related factors on Notch signaling dysregulation and establishes this pathway as a promising therapeutic target for developmental and behavioral deficits in ASD.

Lien vers le texte intégral (Open Access ou abonnement)

7. Li T, Decety J, Hua Z, Peng X, Shi R, Yi L. The role of empathy in prosocial behavior in autistic and neurotypical children. Child Dev;2026 (Mar 31);97(2):437-450.

This study examined the role of empathy in prosocial behavior among Chinese autistic and neurotypical children aged 4-8 between July 2018 and August 2021. Study 1 included 79 autistic children (89% boys) and 81 neurotypical children (77% boys) in a sharing task and found empathy-inducing context increased sharing in both groups, and informant-report empathy positively predicted sharing behavior. Study 2 recruited 57 autistic (82% boys) and 50 neurotypical children (78% boys) in a pain-related empathy task combining eye-tracking and a sharing task. Autistic children showed reduced visual attention to others’ pain but intact emotional arousal. Across both groups, greater visual attention to others’ pain predicted more sharing. These findings indicate that enhancing empathy can promote prosocial behavior in young children. This study investigated the role of empathy in promoting prosocial behavior in young autistic and neurotypical children. In Study 1, an empathy-inducing context significantly increased sharing behavior in both groups, and informant-report trait empathy positively predicted sharing. In Study 2, while autistic children displayed reduced visual attention to others’ pain, their emotional arousal was comparable to that of neurotypical peers. Notably, increased visual attention to others’ pain predicted increased sharing decisions. Together, these findings highlight empathy’s fundamental role in motivating prosocial behavior in both autistic and neurotypical children. eng

Lien vers le texte intégral (Open Access ou abonnement)

8. Lurie KJ, Gross RL, Berry R, Vincent LB, Hayes BE, Wolfer KA. Exploring the Influence of LGBTQ+ and Religious Attitudes in Sexual Health Education for College Students With Intellectual and Developmental Disabilities. J Appl Res Intellect Disabil;2026 (Mar);39(2):e70221.

BACKGROUND: Comprehensive sexual health education is a human right routinely denied to people with intellectual and developmental disabilities. Although queerness and religion are critical parts of comprehensive sexual health education, they are rarely addressed in the literature. METHODS: Fifteen college students with intellectual and developmental disabilities enrolled in a programme that includes a sexual health education course participated in semi-structured interviews about the class. Responses related to attitudes about religion, gender identity and sexual orientation were thematically analysed. RESULTS: Participants expressed varied views about religion and queerness influenced by factors including the desexualisation stereotype (the widespread idea that disabled people should not be sexually active), access to formal and informal sexual health education and restrictive religious teachings. CONCLUSIONS: The diversity in perspectives shown here is an important consideration for the development of sexual health education programmes for people with intellectual and developmental disabilities in educational and community-based settings.

Lien vers le texte intégral (Open Access ou abonnement)

9. Mussina K, Syssoyev D, Gaipov A, Poddighe D, Almabayeva D, Galiyeva D. Incidence of autism spectrum disorder in children in Kazakhstan and risk factors associated with all-cause hospitalizations. Sci Rep;2026 (Mar 31)

Lien vers le texte intégral (Open Access ou abonnement)

10. Natividad Avila M, Jung S, Satterstrom FK, Fu JM, Levy T, Sloofman LG, Klei L, Pichardo T, Marquez D, Stevens CR, Cusick CM, Ames JL, Campos GS, Cerros H, Chaskel R, Costa CIS, Cuccaro ML, Lopez ADP, Fernandez M, Ferro E, Galeano L, Girardi A, Griswold AJ, Hernandez LC, Lourenço N, Ludena Y, Núñez-Ríos D, Oyama R, Peña KP, Pessah I, Schmidt R, Sweeney HM, Tolentino L, Wang JYT, Albores-Gallo L, Croen LA, Cruz-Fuentes CS, Hertz-Picciotto I, Kolevzon A, Lattig MC, Mayo L, Passos-Bueno MR, Pericak-Vance MA, Siper PM, Tassone F, Trelles MP, Talkowski ME, Daly MJ, Mahjani B, De Rubeis S, Cook EH, Roeder K, Betancur C, Devlin B, Buxbaum JD. Deleterious coding variation associated with autism is shared across ancestries. Nat Med;2026 (Mar 30)

The past decade has seen remarkable progress in identifying genes that, when impacted by deleterious coding variation, confer high likelihood for autism spectrum disorder (ASD), intellectual disability and other associated developmental disorders. However, most underlying gene discovery efforts have focused on individuals of European ancestry, limiting insights into genetic liability across diverse populations. To help address this, the Genomics of Autism in Latin American Ancestries (GALA) Consortium was formed, presenting here the largest sequencing study of autism in Latin American individuals (n > 15,000, including 4,717 participants with an ASD diagnosis). We identified 35 genome-wide significant (false discovery rate < 0.05) autism-associated genes, with substantial overlap with findings from European cohorts, and highly constrained genes showing consistent signal across populations. The results provide support for emerging (for example, MARK2, YWHAG, PACS1, RERE, SPEN, GSE1, GLS, TNPO3 and ANKRD17) and established autism genes and for the utility of genetic testing approaches for deleterious variants in individuals from diverse backgrounds; the results also demonstrate the ongoing need for more inclusive genetic research and testing. We conclude that the biology of autism is consistent across populations, with no detectable influence of ancestry.

Lien vers le texte intégral (Open Access ou abonnement)

11. Nguyen TTK, Nguyen HT, Tien QT, Ho PQM, Nguyen TT, Tran MT, Nguyen HHT, Nguyen Thi Thu S. Early Detection of Developmental Delays in Hospitalized Children Aged 2 to 24 Months. J Prim Care Community Health;2026 (Jan-Dec);17:21501319261421463.

BACKGROUND: The first 2 years of life are a critical period for a child’s development. Early developmental surveillance in motor, language, social-emotional, and emerging cognitive domains plays an essential role in timely intervention and long-term outcomes. Children living in disadvantaged conditions or with acute illness are at higher risk for developmental delays, yet early detection in Vietnam remains limited. A national plan for comprehensive early childhood development has recently emphasized the role of primary healthcare and early interaction guidance. OBJECTIVE: To determine the prevalence and characteristics of developmental delays among hospitalized children aged 2 to 24 months at a tertiary pediatric hospital in Southern Vietnam using the standardized developmental surveillance checklist issued by the Ministry of Health in 2023. METHODS: We conducted a descriptive cross-sectional study in which clinically stable inpatients were evaluated prior to discharge. Developmental surveillance was performed using the Ministry of Health 2023 developmental surveillance checklist, which covers 4 domains (gross motor, fine motor, language-communication, and social-emotional development) at ages 2-4-6 months, 9 to 12 months, and 15 to 24 months. Children who did not achieve one or more age-appropriate milestones were classified as having suspected developmental abnormalities. RESULTS: A total of 939 children aged 2 to 24 months were evaluated. The prevalence and pattern of suspected developmental abnormalities varied by age group. Gross motor and language-communication delays were the most frequent findings. Age-specific inspection revealed that developmental vulnerability was most pronounced at 6 months of age, particularly in gross motor, language-communication, and social-emotional domains, coinciding with a critical period of nutritional and biological transition; at 12 months, 76% could say at least 3 words, and by 18 months, 80.1% could say ≥20 single words. Some 24‑month‑old children had not yet achieved expected motor skills. Anemia and stunting were common, particularly in the 9- to 12‑month group. CONCLUSION: Integrating standardized developmental surveillance into inpatient pediatric care is both feasible and essential. Hospital-based developmental surveillance provides an important opportunity for early detection and referral, and highlights the need to expand screening and follow-up to primary care and community settings in Vietnam.

Lien vers le texte intégral (Open Access ou abonnement)

12. Niijima K, Kume K, Murabayashi N, Wakai M. Dyskinesia following modafinil administration in a patient with autism spectrum disorder and narcolepsy: a case report. J Med Case Rep;2026 (Mar 30)

BACKGROUND: In our clinical practice, we encountered a patient with autism spectrum disorder (ASD) and comorbid narcolepsy who developed dyskinesia following the administration of modafinil for excessive daytime sleepiness. Modafinil is widely prescribed as a wakefulness-promoting agent for the treatment of narcolepsy. Although dyskinesia has been reported as a potential adverse effect of modafinil, to our knowledge, no cases have been described in individuals with ASD. We hypothesized that modafinil contributed to the development of dyskinesia in this patient and conducted a literature review to explore the possible underlying mechanisms. CASE PRESENTATION: A 24-year-old Japanese woman with ASD was diagnosed with narcolepsy type 2. She had previously been treated with aripiprazole for ASD-related symptoms, but it had been discontinued more than two weeks before the sleep study. Modafinil was initiated at 100 mg/day and increased to 200 mg/day after three weeks because of insufficient efficacy. Two weeks after the dose increase, dyskinesia developed. A literature review was performed to identify potential mechanisms. Dyskinesia may have resulted from dysregulated striatal dopamine release associated with ASD and residual dopamine D2 receptor blockade from prior aripiprazole use, triggered by modafinil. CONCLUSION: Dopaminergic agents in individuals with ASD may induce dyskinesia, particularly following dose escalation, underscoring the need for clinical vigilance.

Lien vers le texte intégral (Open Access ou abonnement)

13. Robles de Andrade R, Tolentino A, Schumacher AL, Samuelson Gomes Silva A, Melloni Forte PH, Henrique Della-Torre O, Dalgalarrondo P. Managing Psychomotor Agitation in Autism With Electroconvulsive Therapy Under Severe Thrombocytopenia: A Clinical Challenge. J ect;2026 (Mar 18)

Lien vers le texte intégral (Open Access ou abonnement)

14. Sandoni L, Asta L, Giompaolo N, Renaldi R, Amaretti A, Rossi M, Persico AM. The Role of Microbiota Metabolites Propionic Acid, p-Cresol, and 4-Ethylphenyl Sulfate in Autism Susceptibility: A Systematic Review. Autism Res;2026 (Mar 31):e70237.

The etiopathogenesis of Autism Spectrum Disorder (ASD) encompasses complex interactions between genetic and environmental risk factors. The high prevalence of gastrointestinal disorders in autistic individuals has propelled a growing interest in the possible involvement of gut dysbiosis in ASD pathogenesis. Thousands of different bacterial strains are found in the human gut, which produce numerous metabolites that can enter the bloodstream and often pass the blood-brain barrier, potentially influencing neurodevelopment and brain function. This systematic review aims to provide a comprehensive outlook on the role of three metabolic compounds derived from gut bacteria, propionic acid (PPA), p-cresol, and 4-ethylphenyl sulfate (4-EPS), in modulating neuronal function and conferring susceptibility to ASD. To achieve this, we screened 411 records collected through a systematic search of current scientific literature in PubMed, Web of Science, and Scopus, ultimately reviewing a total of 90 records, which included data from ASD human cohorts as well as animal and cellular models of autism. Human studies provided compelling evidence of altered metabolic profiles in ASD individuals, especially for PPA and p-cresol, but also to a smaller extent, for 4-EPS. Furthermore, data obtained from the exposure of experimental models to each one of these three metabolic compounds identified several behavioral anomalies induced in treated animals and highlighted common neurobiological mechanisms. Overall, current literature supports the contribution of gut metabolites to ASD susceptibility and/or a significant modulatory role on the clinical expression of ASD, strongly encouraging further research in the field in order to improve autism diagnostics and management. Data supporting a potential involvement of gut bacteria and their metabolites in autism has recently emerged. Specifically, three metabolic compounds (propionic acid, p‐cresol, and 4‐ethylphenyl sulfate) produced by gut bacteria are among the best candidates as contributors to autism. This review is, to our knowledge, the first to gather results regarding these three compounds and their role in autism susceptibility, identifying differences and commonalities in their mechanisms of action on neuronal cells and on the developing brain. It also discusses their potential use as biomarkers or as drug targets for future treatments. eng

Lien vers le texte intégral (Open Access ou abonnement)

15. Shaban FA, Ghazal I, Al-Faraj F, Aqel S, Thompson IR. Development and Validation of a Short Version Eye-Tracking Paradigm for the Screening and Diagnosis of Autism Spectrum Disorder in Qatar. Autism Res;2026 (Mar 30):e70242.

Objective behavioral assessments for autism spectrum disorder (ASD) are often time-intensive and require substantial clinical expertise. Eye-tracking-based paradigms offer quantifiable measures of social attention that can complement traditional tools. The current study builds on our previously validated Arabic-language Autism Index (AI) by developing and validating a 4 min short version designed to improve feasibility in clinical and community settings while maintaining diagnostic accuracy. A total of 236 participants (127 with ASD, 109 non-autistic controls including those with developmental delays (DD)) aged 1-16 years were assessed using an eye-tracking paradigm consisting of 19 short dynamic videos depicting social and non-social scenes. The AI was computed as the ratio of dwell time toward social versus non-social stimuli. Diagnostic classification was established using ADOS-2 and SCQ. Reliability and validity were assessed using Cronbach’s α, Pearson’s r, and ROC analyses, including age-stratified performance and comparison with the original 10 min version. Feasibility was assessed by the proportion of valid stimuli. The short-version AI demonstrated excellent internal consistency (α = 0.91) and test-retest reliability (r = 0.83). Diagnostic accuracy was high (AUC = 0.878, SE = 0.023), with age-stratified AUCs ranging from 0.846 to 0.939. AI scores correlated strongly with ADOS-2 severity (r = 0.54, p < 0.001) and SCQ total scores (r = 0.43, p < 0.001). Compared with the 10 min original version (AUC = 0.73), the short paradigm achieved higher accuracy and feasibility (valid stimuli: 89% vs. 80%). The current eye-tracking paradigm demonstrates promising diagnostic performance while substantially reducing assessment time and cognitive demand. The findings provide initial evidence supporting its potential as a scalable and cross-cultural tool for ASD screening and diagnosis, with further validation in independent and clinical cohorts supporting its translation into routine clinical practice. Children with autism often show noticeably different patterns of looking at people and objects compared to other children. Eye‐tracking technology can measure these differences and help clinicians identify autism in a more objective way. In this study, we tested a 4 min version of an eye‐tracking test that was designed to be easier for children to complete. Our findings show that this much faster test remains reliable and useful for autism screening and diagnosis, especially in clinics and schools where time and attention are limited. eng

Lien vers le texte intégral (Open Access ou abonnement)

16. Sharma A, Gokulchandran N, Sane H, Kulkarni P, Kannan K, Shaikh Z, Biju H, Paranjape A, D’sa M, Badhe P. Autologous bone marrow mononuclear cell administration in a large cohort of 1,011 patients with autism spectrum disorder: a retrospective observational study. Clin Transplant Res;2026 (Mar 31);40(1):116-128.

BACKGROUND: This retrospective observational study analyzed the therapeutic efficacy of autologous bone marrow mononuclear cells (BMMNCs) in a large cohort of patients with autism spectrum disorder (ASD). METHODS: Overall, 1,011 patients with ASD who received intrathecal administration of autologous BMMNCs were included. Changes in symptoms and outcome measures-the Indian Scale of Autism Assessment (ISAA) and Childhood Autism Rating Scale (CARS)-were recorded. Brain positron emission tomography computed tomography (PET/CT) was used to objectively assess changes in brain metabolism. RESULTS: At a mean follow-up of 19.3 months, 90.6% of patients showed improvement after cell therapy. Symptomatic improvements were observed in attention and concentration, command following, eye contact, sitting tolerance, social interaction, hyperactivity, communication, speech, stereotypical behavior, aggressiveness, and self-injurious behavior. Patients who received multiple doses of cell therapy demonstrated better outcomes, and improvements were seen across all age groups and regardless of disease severity. Changes in ISAA and CARS scores were statistically significant (P<0.05). Comparative PET/CT scans of 401 patients revealed improved metabolism in the amygdala, hippocampus, parahippocampal gyrus, caudate nucleus, cerebellum, mesial temporal lobe, thalamus, and superior and middle temporal poles, which corresponded to symptomatic improvements. No major adverse events were reported. Nine of the 1,011 patients experienced seizures, four of whom had a prior history. These events were managed with medication, with improvements still observed in the nine patients. CONCLUSIONS: Intrathecal transplantation of autologous BMMNCs, combined with neurorehabilitation, yields positive outcomes for patients with ASD. This approach helps reduce the degree of impairment and improves quality of life.

Lien vers le texte intégral (Open Access ou abonnement)

17. Shen KX, Xiang YJ, Wang J, Ren KY, Ding Y. [A case report of Diets-Jongmans syndrome caused by a KDM3B gene variant]. Zhongguo Dang Dai Er Ke Za Zhi;2026 (Mar 15);28(3):353-357.

A 5-year-3-month-old boy presented with intellectual disability, autism spectrum disorder, short stature, long ears, large auricles, a broad nasal tip, a pointed chin, and cryptorchidism. Whole-exome sequencing revealed a de novo likely pathogenic heterozygous missense variant in KDM3B (c.5147T>C, p.Leu1716Pro), supporting a diagnosis of Diets‑Jongmans syndrome. This case further enriches the mutation spectrum of Diets‑Jongmans syndrome and suggests that early genetic testing helps clarify the etiology in children with developmental delay or intellectual disability, autism spectrum disorder, and short stature.

Lien vers le texte intégral (Open Access ou abonnement)

18. Talukdar M, Page DC. The inactive X chromosome as a female protector in autism and beyond. Nat Genet;2026 (Mar 30)

Female individuals require greater autosomal genetic risk than male individuals to manifest autism, yet the biological basis of this ‘female protective effect’ (FPE) remains unknown. Based on insights into the human sex chromosomes, we propose that the FPE arises from higher expression of a subset of X-linked genes in females due to transcription from both the active (Xa) and inactive (Xi) X chromosomes. These higher expression levels enable females to buffer mutations in autosomal genes and in pathways regulated by Xi-expressed genes. This framework unifies epidemiological, genetic and mechanistic observations across autism and other male-biased congenital and developmental disorders, suggesting that the combined activity of Xa and Xi allows females to better tolerate autosomal genetic risk across many pediatric conditions. If correct, this reshapes our understanding of sex differences in human disease and positions Xi as a genetic suppressor of autosomal mutations in autism and beyond.

Lien vers le texte intégral (Open Access ou abonnement)

19. Wang T, Carver LJ, Walker CM. Differences in causal reasoning in preschool-aged children with and without autism. Child Dev;2026 (Mar 31);97(2):491-505.

The abilities to reason probabilistically and infer causality at a distance support social inferences and emerge early in neurotypical development. We examined these capacities in 3- to 5-year-olds with and without autism. In Experiment 1 (N = 100, 73% males, predominantly White), autistic children were unable to discriminate high- from low-probability causes until age 5, whereas neurotypical children succeeded by age 3. In Experiment 2 (N = 100, 71% males, predominantly White), autistic children inferred non-contact causality in physical events by age 3 and in social events by age 4, with exploratory data suggesting group differences. We conclude that early emerging differences in children’s interpretation of socially relevant causal cues may partly contribute to the development of social differences in autism. Autistic children often show differences in social reasoning, but the early origins of these differences are not well understood. We ask whether young autistic children interpret everyday causes differently, focusing on two abilities that are known to support social understanding: learning from probabilities and recognizing that one event can cause another without physical contact. Across two experiments with 3- to 5-year-olds, autistic children showed intact learning from clear, deterministic causes and could understand “action at a distance” in both physical and social situations. However, they showed a later-emerging sensitivity to subtle probabilistic patterns, a skill that supports social prediction in neurotypical children. These early differences may shape how autistic children interpret and respond to social cues over time. eng

Lien vers le texte intégral (Open Access ou abonnement)

20. Wieczorko N, Bellantonio E, Napoli SB, Lejarraga C, Pedernera Bradichansky P, Urinovsky MG, Escalante AS, Rodríguez LS, Russo FM, Argento JI, Perea D’Olivo WF, Cafiero PJ. Girls and female adolescents diagnosed with autism spectrum disorder: A descriptive study. Arch Argent Pediatr;2026 (Mar 31);124(2):e202510781.

Introduction. Autism spectrum disorder (ASD) presents challenges in social communication and behavior. It is more common in males (3:1). Girls receive alternative or delayed diagnoses due to better communication skills, atypical but less unusual interests, greater presence of internalizing behaviors, and camouflage strategies. This can lead to underdiagnosis and limit access to adequate support. Objective. To describe the population of girls and female adolescents (GFA) with ASD being monitored at a tertiary hospital, comparing them according to age and clinical characteristics. Population and methods. Descriptive, cross-sectional study with retrospective analysis of medical records of GFAs evaluated between 2002 and 2024. Data on development, physical examination, and sociodemographic variables were collected. The sample was divided into preschoolers and schoolchildren, and by the presence or absence of language at the time of diagnosis. Results. A sample of 415 GFAs was obtained. Sixteen percent (n = 69) received a late diagnosis. In older girls, two profiles were identified: one compatible with the female phenotype of ASD (language present, lower intellectual disability, consultation for social difficulties) and another with characteristics of profound autism (no language, higher intellectual disability, epilepsy, regression, and greater severity). In preschoolers, cognitive impairment or failure to adapt to formal assessments predominated. A family history of ASD or an broader autism phenotype were present in 19.5% (n = 81) of cases. Conclusion. We observed a high clinical variability, which requires greater diagnostic sensitivity and specific tools to facilitate adequate support.

Lien vers le texte intégral (Open Access ou abonnement)

21. Yang C, Sun AP, Ma SZ, Dong WQ, Chen X, Chen SY, You Y, Zang YF, Yuan LX. Disrupted Modular Integration of the Reward System Is Associated With Social Deficits in Autism Spectrum Disorder. Autism Res;2026 (Mar 30):e70241.

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with atypical social communication as a core symptom. Variations in social information processing in individuals with ASD are associated with the social brain, which encompasses four specific subnetworks, that is, reward system, theory of mind network, mirror neuron system, and face perception network. However, the relationship between neural mechanisms of altered social functioning and modular integration of these subnetworks within the social brain remains unclear in ASD. With resting-state functional MRI (rs-fMRI) data from two large-scale datasets (ABIDE I and II), we computed the participation coefficient to explore the abnormal modular integration of the four subnetworks in 298 ASDs and 348 typically developing (TD) controls. Then, its associations with clinical symptoms, neurotransmitter systems, and transcriptional signatures were investigated. Additionally, the age effect on aberrant modular integration was estimated with linear regression models. Finally, we assessed the reproducibility of our results from a meta-perspective using other datasets. ASD participants exhibited increased integration of the reward system relative to TDs, which was correlated with Social Responsiveness Scale total score, the neurotransmitters such as 5HT1a and GABAa, and the disruption of the transcriptional signatures including cell proliferation and migration as well as tube and tissue morphogenesis. Additionally, the modular integration abnormality of the reward system was stable across development and replicated across datasets. We revealed a symptom-related, neurotransmitter- and transcriptional signature-associated, age-stable, and reproducible modular integration abnormality of the reward system in ASD. This hyper-integration was linked to reduced GABAa and serotonin receptor densities, providing neuroimaging and molecular evidence supporting the excitatory-inhibitory imbalance theory of ASD and insights into the mechanisms underlying social variations in ASD. We firstly found that the increased modular integration of the reward system within the social brain in ASD based on a large‐scale multisite dataset, which is age‐stable and replicated in other datasets. We illustrated that the aberrant modular integration of the reward system was correlated with the Social Responsiveness Scale total score, 5HT1a, GABAa, and disruption of the transcriptional signatures including tube morphogenesis, cell population proliferation, tissue morphogenesis, and positive regulation of cell migration. Our study will shed new insights into the neurobiological mechanisms underlying the social functioning deficit in ASD and facilitates the advancements in the intervention strategies. eng

Lien vers le texte intégral (Open Access ou abonnement)

22. Zhuang H, Cao X, Tang X, Liang Z, Wang H, Liu Q, Yan X, Lin X, Su X, Wang M, Huang Y, Lu D, Wang Y, Chen H, Shen L. Knockdown of Ddx3x in mPFC induces autistic-like phenotype in mice via altered synaptic plasticity. Transl Psychiatry;2026 (Mar 30);16(1)

DDX3X, a DEAD-box RNA helicase, has been identified as a risk gene for autism spectrum disorder (ASD). To elucidate the role of DDX3X mutations in ASD pathogenesis, HT22 cell models and mouse models with Ddx3x knockdown specifically in the medial prefrontal cortex were established. Ddx3x knockdown in HT22 cells resulted in slower growth, while in mice, it induced autism-like behaviors. Proteomic analysis in cortex revealed that many down-regulated proteins were involved in synaptic plasticity. The differentially expressed proteins (DEPs) were associated with long-term potentiation, glutamatergic and GABAergic synapses, postsynaptic density, branched-chain amino acid degradation, and the oxytocin pathway. Integrating cellular and cortical omics studies revealed overlaps in the ubiquitin-proteasome system and the ‘de novo’ protein folding pathway. These pathways were inhibited in the cortex of the model mice. The expression of several important proteins was validated. Confocal microscopy and transmission electron microscopy demonstrated a significant reduction in dendritic spine density and postsynaptic density of mouse models. Electrophysiological experiments showed that the frequency of miniature excitatory postsynaptic currents was significantly reduced. These results suggest that DDX3X deficiency impairs synaptic function, thereby affecting neurodevelopment and social abilities. Abnormal synaptic plasticity may contribute to the pathogenesis of ASD with DDX3X gene mutations.

Lien vers le texte intégral (Open Access ou abonnement)