1. Abdelaziz A, Wagner M, Naigles LR. Associations Between Joint Attention, Supported Joint Engagement and Language in TD Children and Children with ASD: Potential Sources of Individual and Group Differences in Language Outcomes. Lang Learn Dev. 2025; 21(1): 27-57.

Joint Attention (JA) and Supported Joint Engagement (Supported JE) have each been reported to predict later language development in typically developing (TD) children and children with Autism Spectrum Disorder (ASD). In this longitudinal study including 33 TD children (20 months at V1) and 30 children with ASD (33 months at V1), the contributions of JA and Supported JE to later language, assessed via standardized tests and spontaneous speech, were directly compared. Frequency and durations of JA and Supported JE episodes were coded from 30-minute interactions with caregivers; subsequent language skills were assessed two years later. JA duration in the ASD group significantly predicted later standardized and spontaneous language, most strongly in the low-verbal ASD subgroup. Supported JE measures did not positively predict later language in either group. These findings suggest that JA played a larger role with children with ASD with low-verbal abilities, but not with children with ASD with high-verbal abilities nor with the TD children. The current study adds to existing literature by providing further support for studying children with ASD as two subgroups based on their verbal abilities (high vs low), as well as directly comparing the effects of JA and Supported JE on later language development in such groups. Implications for further research are discussed.

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2. Aboul-Fotouh S, Zohny SM, Elnahas EM, Habib MZ, Hassan GA. Can memantine treat autism? Answers from preclinical and clinical studies. Neurosci Biobehav Rev. 2025; 169: 106019.

Autism Spectrum Disorder (ASD) represents a clinical challenge due to its diverse behavioral symptoms and complex neuro-pathophysiology. Finding effective treatments that target the fundamental mechanisms of ASD remains a top priority. This narrative review presents the potential of the NMDA-receptor blocker memantine in managing ASD symptoms. Preclinical studies indicate that memantine could abrogate excitotoxicity, GABA/glutamate imbalance, reduced levels of brain-derived neurotrophic factor (BDNF), blood-brain barrier (BBB) leakage, and neuroinflammation, offering hope for managing core deficits associated with ASD like impaired social interaction and repetitive behaviors. However, clinical trials yield conflicting results, with some showing slight improvements in symptom severity and cognitive function, while others demonstrate limited efficacy. Further exploration of memantine’s neurobiological mechanisms and refinement of treatment approaches are crucial for comprehensively tackling ASD complexities. Drawing from both animal models and clinical data, this review examines memantine’s impact on core ASD symptoms, cognitive function, and potential mechanisms of action. Lastly, it identifies research gaps and proposes avenues for future investigations to enhance our understanding and utilization of memantine in ASD management.

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3. Alvarez-Dieppa AC, Griffin K, Cavalier S, Souza RR, Engineer CT, McIntyre CK. Vagus nerve stimulation rescues impaired fear extinction and social interaction in a rat model of autism spectrum disorder. J Affect Disord. 2025.

Clinical diagnosis of anxiety disorders is highly prevalent in autism spectrum disorders (ASD). Available treatments for anxiety offer limited efficacy in the ASD population. Vagus nerve stimulation (VNS) has an anxiolytic effect in rats and, when coupled with fear extinction training, VNS enhances extinction of fear in healthy rats. The valproic acid (VPA)-induced rat model of autism shows impaired extinction of fear and deficits in social interaction. This study was designed to test the potential of VNS to rescue extinction learning and influence social behaviors in VPA-exposed rats. After VNS or sham surgery, VPA-exposed rats or controls were subjected to auditory fear conditioning followed by extinction training paired with VNS or sham stimulation. Another cohort was exposed to a social interaction task paired with VNS or sham stimulation. Time spent freezing was not significantly reduced during retention testing 24 h after extinction training in VPA-exposed rats given sham stimulation (p = .26), but freezing levels were significantly lower during the retention test in saline control and in VPA-VNS rats (p < .05), indicating that VNS reverses extinction deficits in VPA-exposed rats. In addition, social interaction scores were significantly lower in VPA-sham rats (p < .0005), but VPA-VNS rats were not significantly different from saline controls (p = .19), suggesting that VNS also alleviates social interaction deficits in VPA-exposed rats. VNS is approved for use in humans for treatment of epilepsy, depression, and stroke. These findings suggest that VNS may be a useful tool for overcoming treatment resistant anxiety in ASD.

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4. Andrade C. Maternal Cannabis Use During Pregnancy and Neuropsychiatric Adverse Outcomes During Childhood and Early Adult Life. J Clin Psychiatry. 2025; 86(1).

Cannabis use during pregnancy is increasing; the study of adverse outcomes in cannabis-exposed pregnancies is therefore important. Previous articles in this series described increased risks of maternal adverse outcomes, fetal adverse outcomes, birth defects in newborns, and autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) in childhood. This article examines neuropsychiatric adverse outcomes in offspring gestationally exposed to cannabis. Currently available research suggests that prenatal cannabis exposure is associated with increased risks of ASD, ADHD, psychosis proneness, psychotic like experiences, internalizing problems, externalizing problems, attention problems, thought-related problems, social problems, impaired executive function, and observed aggression. There is insufficient study of prenatal cannabis exposure and offspring IQ. Shortcomings in the existing literature are discussed; as examples, many outcomes were determined by screening rather than by formal assessment, prenatal cannabis exposure was ascertained retrospectively in some studies, childhood adverse experiences and exposures were seldom included as covariates, and details about cannabis use (source, potency, frequency, reasons) were unavailable. Curiously, the findings of adverse outcomes were inconsistent, and the effect sizes were small. Possible explanations are that women who use cannabis during pregnancy may not admit it and their pregnancy outcomes may then be misclassified into the control group, assessment of outcomes at too young an age or with insufficient accuracy may blur differences between exposed and unexposed groups, and adjustment for covariates may mask the full effects of cannabis. A last observation is that the studies reviewed were based on exposures that occurred decades ago. Given the increasing potency of currently available cannabis and the limitations of the existing research, it is possible that the available findings underestimate the breadth and severity of the risks. Cannabis is not a necessary substance for use during pregnancy, and so women who consider it safe might do well to guard against complacency and unnecessary exposure.

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5. Araya P, Phillips K, Waldie K, Underwood L. Gross Motor Development in Children With Autism: Longitudinal Trajectories From the Growing Up in New Zealand Study. Autism Res. 2025.

This study explored gross motor development (GMD) trajectories among 6359 children, with and without autism, from the Growing Up in New Zealand longitudinal cohort study. By the age of 8, 173 children had either an autism diagnosis (n = 108) or parent-reported autism concerns (n = 65). Gross motor milestones were reported by mothers when children were 9, 24, and 54 months of age. We found that irrespective of autism diagnosis, GMD delays at 24 months of age were more likely among girls, children born preterm, and those whose mothers identified as European. A mixed-effect logistic regression model, controlling for antenatal maternal and child covariates, revealed that the proportion of children with GMD delay (relative to their peers) increased significantly from 9 to 54 months for all three groups, but the increase was greater for those with autism concerns (OR = 1.28, 95% CI = 1.08-1.52) or an autism diagnosis (OR = 1.26, 95% CI = 1.10-1.43) compared to the no autism group (OR = 1.06, 95% CI = 1.02-1.10). Differences in the changes in GMD performance among children with an autism diagnosis compared to those without autism occurred between 9 and 24 months (OR = 2.16, 95% CI = 1.13-4.13). No significant GMD delay differences were found at any time between children with an autism diagnosis versus those with autism concerns. Children with a GMD delay should be screened for autism at 24 m. Early identification is the first step toward knowledge-based, effective intervention of developmental difficulties.

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6. Avila MN, Jung S, Satterstrom FK, Fu JM, Levy T, Sloofman LG, Klei L, Pichardo T, 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, Nuñez DL, 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 consistent across populations, as exemplified by admixed Latin American populations. medRxiv. 2025.

The past decade has seen remarkable progress in identifying genes that, when impacted by deleterious coding variation, confer high risk for autism spectrum disorder (ASD), intellectual disability, and other developmental disorders. However, most underlying gene discovery efforts have focused on individuals of European ancestry, limiting insights into genetic risks across diverse populations. To help address this, the Genomics of Autism in Latin American Ancestries Consortium (GALA) was formed, presenting here the largest sequencing study of ASD in Latin American individuals (n>15,000). We identified 35 genome-wide significant (FDR < 0.05) ASD risk genes, with substantial overlap with findings from European cohorts, and highly constrained genes showing consistent signal across populations. The results provide support for emerging (e.g., MARK2 , YWHAG , PACS1 , RERE, SPEN, GSE1, GLS, TNPO3, ANKRD17 ) and established ASD genes, and for the utility of genetic testing approaches for deleterious variants in diverse populations, while also demonstrating the ongoing need for more inclusive genetic research and testing. We conclude that the biology of ASD is universal and not impacted to any detectable degree by ancestry. AUTISM SEQUENCING CONSORTIUM ASC: Branko Aleksic, Mykyta Artomov, Mafalda Barbosa, Elisa Benetti, Catalina Betancur, Monica Biscaldi-Schafer, Anders D. Børglum, Harrison Brand, Alfredo Brusco, Joseph D. Buxbaum, Gabriele Campos, Simona Cardaropoli, Diana Carli, Angel Carracedo, Marcus C. Y. Chan, Andreas G. Chiocchetti, Brian H. Y. Chung, Brett Collins, Ryan L. Collins, Edwin H. Cook, Hilary Coon, Claudia I. S. Costa, Michael L. Cuccaro, David J. Cutler, Mark J. Daly, Silvia De Rubeis, Bernie Devlin, Ryan N. Doan, Enrico Domenici, Shan Dong, Chiara Fallerini, Magdalena Fernandez, Montserrat Fernández-Prieto, Giovanni Battista Ferrero, Eugenio Ferro, Jennifer Foss Feig, Christine M. Freitag, Jack M. Fu, Liliana Galeano, J. Jay Gargus, Sherif Gerges, Elisa Giorgio, Ana Cristina Girardi, Stephen Guter, Emily Hansen-Kiss, Erina Hara, Danielle Halpern, Gail E. Herman, Luis C. Hernandez, Irva Hertz-Picciotto, David M. Hougaard, Christina M. Hultman, Suma Jacob, Miia Kaartinen, Lambertus Klei, Alexander Kolevzon, Itaru Kushima, Maria C. Lattig, So Lun Lee, Terho Lehtimäki, Lindsay Liang, Carla Lintas, Alicia Ljungdahl, Andrea del Pilar Lopez, Caterina Lo Rizzo, Yunin Ludena, Patricia Maciel, Behrang Mahjani, Nell Maltman, Marianna Manara, Dara S. Manoach, Dalia Marquez, Gal Meiri, Idan Menashe, Judith Miller, Nancy Minshew, Matthew Mosconi, Marina Natividad Avila, Rachel Nguyen, Norio Ozaki, Aarno Palotie, Mara Parellada, Maria Rita Passos-Bueno, Lisa Pavinato, Katherine P. Peña, Minshi Peng, Margaret Pericak-Vance, Antonio M. Persico, Isaac N. Pessah, Thariana Pichardo, Kaija Puura, Abraham Reichenberg, Alessandra Renieri, Kathryn Roeder, Catherine Sancimino, Stephan J. Sanders, Sven Sandin, F. Kyle Satterstrom, Stephen W. Scherer, Sabine Schlitt, Rebecca J. Schmidt, Lauren Schmitt, Katja Schneider-Momm, Paige M. Siper, Laura Sloofman, Moyra Smith, Renee Soufer, Christine R. Stevens, Pål Suren, James S. Sutcliffe, John A. Sweeney, Michael E. Talkowski, Flora Tassone, Karoline Teufel, Elisabetta Trabetti, Slavica Trajkova, Maria del Pilar Trelles, Brie Wamsley, Jaqueline Y. T. Wang, Lauren A. Weiss, Mullin H. C. Yu, Ryan Yuen, Jessica Zweifach.

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7. Bhusri B, Sutheeworapong S, Kittichotirat W, Kusonmano K, Thammarongtham C, Lertampaiporn S, Prommeenate P, Praphanphoj V, Kittitharaphan W, Dulsawat S, Paenkaew P, Cheevadhanarak S. Characterization of gut microbiota on gender and age groups bias in Thai patients with autism spectrum disorder. Sci Rep. 2025; 15(1): 2587.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social communication and interaction problems. The prevalence of ASD is increasing globally, with a higher ratio of males to females. Gastrointestinal symptoms are common in individuals with ASD, and gut microbiota has been implicated in the disorder’s development. This study aimed to investigate the gut microbiota alteration in Thai individuals with ASD compared to healthy controls using 16S rRNA gene sequencing. The influence of gender and age on gut microbiota composition and function was also examined. A total of 65 ASD individuals and 30 neurotypical (NT) individuals were included in the analysis. The results revealed notable differences in gut microbiota composition between the ASD and NT groups, with variations observed in microbial richness and the presence of enriched microbial taxa. These differences were influenced by both gender and age. Fusobacteriota, Fusobacteriaceae, and Fusobacterium were found to be enriched in individuals with ASD. Furthermore, the study identified gender-related taxa, such as Bacteroides plebeius, enriched in ASD females. Age-related taxa, including Veillonella, known to be associated with poor oral hygiene, were also observed in ASD children. The analysis of differentially abundant pathways highlighted the enrichment of various metabolic pathways in individuals with ASD, including those related to endocrine-disrupting chemicals. These findings underscore the importance of considering gender and age when studying gut microbiota in ASD. They provide valuable insights into the potential role of gut microbiota dysbiosis in ASD pathogenesis and highlight the influence of environmental factors.

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8. Curtis S, Izett E. The experience of mothers of autistic children with a pathological demand avoidance profile: an interpretative phenomenological analysis. Discov Ment Health. 2025; 5(1): 5.

PURPOSE: Emergent research literature has identified emotional and behavioural challenges for autistic children with a pathological demand avoidance profile. However, understanding of their parents’ experience is limited. This study aimed to explore the experience of parents of autistic children with a pathological demand avoidance profile. METHODS: Semi-structured interviews were completed with ten parents of autistic children with a pathological demand avoidance profile, aged between 5 and 11 years (M = 8.5, SD = 1.90). All participants were mothers, aged 33-50 years (M = 42, SD = 5.35). To explore what meaning participants gave to their lived experience, an interpretative phenomenological analysis was conducted on interview data. RESULTS: Four main themes were developed from the interpretative phenomenological analysis; the benefit of a shared understanding about pathological demand avoidance to the parents and their children, the power of pathological demand avoidance and the impact on families, the emotional experience of mothers, and the various ways in which they coped. CONCLUSION: The need for further recognition and understanding about pathological demand avoidance is emphasised through recommendations for future research. As is the need for flexible, informed, and appropriate support for demand avoidant children and their families.

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9. Davoudi S, Rahdar M, Borjkhani M, Alavi-Majd H, Hosseinmardi N, Behzadi G, Janahmadi M. The Impact of Astroglia Kir4.1 Channel Dysfunction on Neuronal Activity and Autism-Related Behavioral Abnormalities. Glia. 2025.

Autism spectrum disorder (ASD) is marked by neurobehavioral developmental deficits, potentially linked to disrupted neuron-glia interactions. The astroglia Kir4.1 channel plays a vital role in regulating potassium levels during neuronal activation, and mutations in this channel have been associated with ASD. This study investigates astroglia Kir4.1 as a regulator of neuronal excitability and behavioral abnormalities in rats with autistic-like traits induced by prenatal exposure to valproic acid (VPA). Whole-cell patch-clamp recordings were obtained from pyramidal neurons in the hippocampal CA1 region, showing that inhibition of Kir4.1 channels led to electrophysiological changes indicative of neuronal hyperexcitability, similar to that seen in VPA-exposed neurons. Specifically, there was increased input resistance and voltage threshold, alongside decreased time constant and rheobase. Behavioral assessments after 7 days of intrahippocampal PA6 (5 μg/mL/day) administration revealed significant social withdrawal, heightened anxiety, reduced exploration, and impaired recognition memory, underscoring the behavioral deficits linked to autism. While Kir4.1 inhibition affected excitability, it did not alter the output of CA1 pyramidal neurons in autistic-like rats. These findings emphasize the critical role of astroglia Kir4.1 channels in modulating neuronal excitability and associated behavioral impairments within the VPA-induced autism model, suggesting a promising target for future therapeutic interventions.

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10. Duffy F, Peebles I, Clark E, Loomes R, Thomson L, Maloney E, Nimbley E. Clinicians’ Experiences of Eating Disorder Focused Family Therapy With Autistic Young People. Eur Eat Disord Rev. 2025.

OBJECTIVE: Eating disorder focused family therapy (FT-ED) is the leading outpatient intervention for adolescents with Anorexia Nervosa. Autistic people report poorer eating disorder treatment experiences and may be at increased risk of inpatient admissions. There is a need to consider adaptions to eating disorder treatment for this population. The aim of this study is to explore the experiences of clinicians in the delivery of FT-ED for Autistic young people with Anorexia Nervosa and any adaptations currently being implemented. METHOD: FT-ED trained clinicians who had experience of delivering this modality with young Autistic people and their families, were invited to take part in interviews. Transcripts were analysed using Reflexive Thematic Analysis. RESULTS: Eleven clinicians completed interviews and analysis generated four themes and eight subthemes: (1) Systemic context, (2) Raising potential autism, (3) Autism eating disorders crossover, (4) Manual versus adaptations. CONCLUSIONS: This paper is the first exploration of clinician’s experience delivering FT-ED to Autistic young people and their families and highlighted unique considerations with this population. It is an initial step to consider adaptations to the FT-ED model, with the aim of making eating disorder treatments more effective, accessible and acceptable for Autistic young people and their families.

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11. Eni M, Zigel Y, Ilan M, Michaelovski A, Golan HM, Meiri G, Menashe I, Dinstein I. Reliably quantifying the severity of social symptoms in children with autism using ASDSpeech. Transl Psychiatry. 2025; 15(1): 14.

Several studies have demonstrated that the severity of social communication problems, a core symptom of Autism Spectrum Disorder (ASD), is correlated with specific speech characteristics of ASD individuals. This suggests that it may be possible to develop speech analysis algorithms that can quantify ASD symptom severity from speech recordings in a direct and objective manner. Here we demonstrate the utility of a new open-source AI algorithm, ASDSpeech, which can analyze speech recordings of ASD children and reliably quantify their social communication difficulties across multiple developmental timepoints. The algorithm was trained and tested on the largest ASD speech dataset available to date, which contained 99,193 vocalizations from 197 ASD children recorded in 258 Autism Diagnostic Observation Schedule, Second edition (ADOS-2) assessments. ASDSpeech was trained with acoustic and conversational features extracted from the speech recordings of 136 children, who participated in a single ADOS-2 assessment, and tested with independent recordings of 61 additional children who completed two ADOS-2 assessments, separated by 1-2 years. Estimated total ADOS-2 scores in the test set were significantly correlated with actual scores when examining either the first (r(59) = 0.544, P < 0.0001) or second (r(59) = 0.605, P < 0.0001) assessment. Separate estimation of social communication and restricted and repetitive behavior symptoms revealed that ASDSpeech was particularly accurate at estimating social communication symptoms (i.e., ADOS-2 social affect scores). These results demonstrate the potential utility of ASDSpeech for enhancing basic and clinical ASD research as well as clinical management. We openly share both algorithm and speech feature dataset for use and further development by the community.

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12. Hindi I, Meir N. Different paths to multilingualism in Autism Spectrum Disorder (ASD): Naturalistic and non-interactive. J Child Lang. 2025: 1-22.

This study is one of the few research efforts investigating unexpected non-interactive foreign language acquisition in children with Autism Spectrum Disorder (ASD). Participants included 46 English-Hebrew-speaking children (ages 4;10 to 12;0): 14 autistic children who acquired English via non-interactive input (ASD-NI); 12 autistic children (ASD-Nat), and 20 non-autistic children with typical language development (TLD-Nat) who acquired English and Hebrew naturalistically. Morpho-syntactic abilities were assessed using Sentence Repetition tasks in both languages. The results showed no group differences for morpho-syntax in English; in Hebrew, the ASD-NI group scored similarly to the ASD-Nat group but lower than the TLD-Nat group. Individual performance differences between Hebrew and English were observed across all groups. Additionally, correlations between exposure and SRep scores were found in both groups for Hebrew but not English. These findings highlight diverse paths to language acquisition in ASD, with children acquiring foreign languages via both naturalistic and non-interactive input.

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13. Jiang Z, Li G, Zeng S, Li J, Li Y, Lin J, Fan Q. Causal Relationship between Attention-Deficit Hyperactivity Disorder and Autism Spectrum Disorder: A Two-Sample Mendelian Randomization. Br J Hosp Med (Lond). 2024; 85(12): 1-16.

Aims/Background Despite the exponential increase in the incidence rate of Autism spectrum disorder (ASD), effective therapies for the disorder are still limited. According to vast clinical observations, the pathogeneses of ASD and Attention-deficit hyperactivity disorder (ADHD) share a great deal of similarities. This serves as a prompt to investigate, in this study, whether patients with ADHD are at a higher risk for ASD, which is significant for disease prevention. Methods Data concerning ADHD as the exposure variable and ASD as the outcome variable were collected from the publicly available Integrative Epidemiology Unit Open GWAS project (IEU GWAS) database. After screening the instrumental variables (IVs), statistical analysis was performed using the TwoSampleMR package of version R4.3.1, and sensitivity testing was conducted to evaluate the stability and reliability of the results. Results After screening the Single nucleotide polymorphisms (SNPs) through the calculation of F-value and Mendelian randomization (MR) Pleiotropy RESidual Sum and Outlier test (MR-PRESSO), seven SNPs that satisfied the three major assumptions of Mendelian randomization were selected as IVs and could be used in place of ADHD in exploring the aforementioned causal relationship. The Odds ratio (OR) for the random-effect Inverse-variance weighted (IVW) method was 1.31 (95% Confidence interval [CI]: 1.14-1.52; p = 0.0001). A similar trend was observed for the Weighted median estimator (WME) method, with an OR of 1.37 (wider 95% CI: 1.15-1.64; p = 0.0005). Conclusion This study includes the pooled data on ADHD and ASD from the IEU GWAS public database, and there is sufficient evidence that patients with ADHD have a higher risk of ASD.

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14. Kirsch S, Maier S, Lin M, Guendelman S, Kaufmann C, Dziobek I, Tebartz van Elst L. The Alexithymia Hypothesis of Autism Revisited: Alexithymia Modulates Social Brain Activity During Facial Affect Recognition in Autistic Adults. Biol Psychiatry Cogn Neurosci Neuroimaging. 2025.

BACKGROUND: Autism Spectrum Disorder (ASD) and alexithymia are both linked to difficulties in facial affect recognition (FAR) alongside differences in social brain activity. According to the Alexithymia Hypothesis, difficulties in emotion processing in ASD can be attributed to increased levels of co-occurring alexithymia. Despite substantial evidence supporting the hypothesis at the behavioral level, the effects of co-occurring alexithymia on brain function during FAR remain unexplored. METHODS: Data from 120 participants (60 ASD, 60 controls) who completed an FAR task were analyzed using functional magnetic resonance imaging and behavioral measures. The task included both explicit and implicit measures of FAR. Autistic participants were further categorized based on their alexithymia status. Group differences in FAR performance and associated brain activation were investigated. RESULTS: Autistic participants showed lower FAR performance compared to controls, regardless of alexithymia status. Imaging revealed three cortical clusters with reduced activation in alexithymic compared to non-alexithymic ASD participants during explicit FAR, including the left inferior parietal gyrus, cuneus, and middle temporal gyrus. During implicit FAR, alexithymic ASD participants showed three cortical clusters of increased activation, including the left precentral gyrus, right precuneus, and temporoparietal junction. DISCUSSION: Our study shows an unexpected dissociation between behavior and brain response: While ASD affects FAR performance, only co-occurring alexithymia modulates corresponding social brain activations. Though not supporting the Alexithymia Hypothesis on the behavioral level, the study highlights the complex relationship between ASD and co-occurring alexithymia, emphasizing the significance of co-occurring conditions in understanding emotion processing in ASD.

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15. Monday HR, Nieto AM, Yohannes SA, Luxu S, Wong KW, Bolio FE, Feldman DE. Physiological and molecular impairment of PV circuit homeostasis in mouse models of autism. bioRxiv. 2025.

Circuit dysfunction in autism may involve a failure of homeostatic plasticity. To test this, we studied parvalbumin (PV) interneurons which exhibit rapid homeostatic plasticity of intrinsic excitability following whisker deprivation in mouse somatosensory cortex. Brief deprivation reduces PV excitability by increasing Kv1 current to increase PV spike threshold. We found that PV homeostatic plasticity is disrupted in Tsc2 (+/-) and Fmr1 (-/-) models of autism. In wildtype mice, deprivation elevates the transcription factor ER81 which drives Kcna1 transcription, increasing Kv1.1 protein in the axon initial segment and soma. These molecular signatures of homeostasis were absent in Tsc2 (+/-) and Fmr1 (-/-) . Whisker enrichment increased PV excitability, but not in Tsc2 (+/-) , indicating that homeostasis is lost bidirectionally. Deprivation reduced feedforward L4-L2/3 inhibition in wildtype but not Tsc2 (+/-) mice. Thus, two autism models show a convergent loss of PV circuit homeostasis at physiological and molecular levels, potentially contributing to sensory processing impairments.

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16. Myat P, John JR, Montgomery A, Eapen V. Sociocultural and perinatal health factors associated with Autism spectrum disorder (ASD) in children. Compr Psychiatry. 2025; 138: 152576.

While previous research has examined perinatal factors in the context of Autism Spectrum Disorder (ASD), studies focusing on sociocultural factors is limited. We conducted a cross-sectional analysis utilizing data from the Australian Autism Biobank (AAB), which encompasses autistic children aged 2-17, their siblings, parents, and unrelated controls. Employing multivariable regression analyses, we aimed to identify factors associated with ASD across various domains, spanning health and lifestyle, perinatal, and postnatal contexts. Importantly, our analyses were adjusted for critical sociodemographic covariates. Advanced maternal age, male sex at birth, and identifying as from culturally and linguistically diverse (CALD) background, were found to be associated with risk of ASD. Pre-existing chronic health conditions in both parents and paternal medication use before conception were also associated with ASD risk in children. Associations with complications during pregnancy, caesarean delivery, and maternal medication use during pregnancy were also found. Postnatal factors of interest included the presence of health conditions (e.g., epilepsy), infections in early-life (e.g., respiratory infections), and atypical development in the first six months of life (e.g., hypotonia). These insights can guide closer monitoring and support for those with pre-existing vulnerabilities especially in terms of certain perinatal and sociocultural characteristics.

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17. Qian G, Yang N, Deng F, Zhang M, Pan X, Tan B, Liu L, Zhang X, Yao H, Dong X. SNV/Indel and CNV Analysis in Trio-WES for Intellectual and Developmental Disabilities: Diagnostic Yield & Cost-Effectiveness. Clin Genet. 2025.

Intellectual and developmental disabilities (IDD) are clinically and genetically heterogeneous disorders of global concern. While whole exome sequencing (WES) is used to identify single nucleotide variants (SNVs) and small insertions/deletions (Indels) in IDD patients, its detection rate is limited. This study evaluated the value of integrating copy number variation (CNV) analysis into traditional SNV/Indel analysis based on trio-WES. One hundred eighty seven patients with IDD in 140 families from southwest China were incorporated into the study cohort. The overall diagnostic rate was 40.11% (75/187), with 33.16% (62/187) from SNV/Indel analysis and 6.95% (13/187) from CNV analysis. SNV/Indel analysis identified 52 variants in 42 genes, including 30 novel and 22 reported variants; CNV analysis identified 11 CNVs, comprising 1 repeat and 10 deletions, with sizes ranging from 1313 to 55 184 kb. 39.29% (55/140) families benefited from this study for their clinical diagnosis, treatment, and reproduction. Furthermore, our strategy, with an incremental cost-effectiveness ratio (ICER) of $2546.22/diagnosis, had demonstrated significant advantages in terms of cost-effectiveness and detection speed compared to previous methods. In general, by incorporating SNV/Indel and CNV analysis based on trio-WES, a robust, cost-effective, and time-saving approach for diagnosing IDD has been developed.

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18. Qian L, Ding N, Fang H, Xiao T, Sun B, Gao H, Ke X. Pragmatic performance, its relationship with symptom severity, and early clinical predictors of pragmatics in 5 ~ 6-year-old children with autism spectrum disorder. BMC Psychiatry. 2025; 25(1): 58.

BACKGROUND: Pragmatic language refers to using spoken language to convey messages effectively across diverse social communication contexts. However, minimal longitudinal research has focused on defining early predictors of pragmatic development in children with autism spectrum disorder (ASD). METHODS: In the present study, 71 children with ASD and 38 age- and gender- matched 24- to 30-month-old typically developing (TD) children were enrolled. Social-communication, language, and parent‒child interaction measures were collected for the ASD group at baseline. Three years later, all subjects were assessed for pragmatic ability via the Chinese version of the Language Use Inventory (LUI-Mandarin). First, the differences in pragmatic performance between the ASD and TD groups at follow-up were analyzed. Second, pragmatic performance was correlated with autism symptomatology at follow-up, as well as the structural language difficulties and joint engagement (JE) levels at baseline in the ASD group. Furthermore, hierarchical multiple regression analyses and machine learning techniques were performed to explore the effects of early potential predictors of pragmatic development in the ASD group. RESULTS: First, our results revealed that performance was significantly lower in the ASD than in the TD group with respect to the LUI-Mandarin total scores and subscale scores (except for subscale C). Second, correlation analysis revealed that more severe symptoms of ASD at follow-up were associated with lower LUI-Mandarin total scores and better language performance on the Gesell Developmental Schedules (GDS). Additionally, increased proportions of supported JE (SJE) states were associated with higher LUI-Mandarin total scores. In contrast, increased proportions of unengaged (UE) states were associated with lower LUI-Mandarin total scores in the ASD group. Third, hierarchical multiple regression analyses and machine learning techniques indicated that the proportions of SJE during parent‒child interactions, as well as the degree of social symptoms and structural language impairments, were significant contributors to pragmatic development for the ASD group in the prediction models. CONCLUSION: In summary, our findings suggest that pragmatic language difficulties are present in children with ASD as early as preschool age. Additionally, given the close correlation between the LUI-Mandarin score and symptom severity on the ADOS/ADI-R, the LUI-Mandarin might be a good way to triage children who need to wait a long time for a more extensive evaluation. Furthermore, this study provides new insights into potential targets for pragmatic interventions, and interventions can be designed to promote SJE between caregivers and children in future work.

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19. Tu P, Halili X, Zhang S, Yang J, Xiao Y. The effectiveness of hyperbaric oxygen therapy in children and adolescents and with autism spectrum disorders: A systematic review and meta-analysis. Prog Neuropsychopharmacol Biol Psychiatry. 2025: 111257.

BACKGROUND: Hyperbaric oxygen therapy (HBOT) is considered a potential treatment for autism spectrum disorders, aiming to improve the underlying pathophysiological mechanisms. It has been studied in several clinical trials, but the effectiveness is still controversial. PURPOSE: This systematic review aimed to systematically evaluate the effectiveness of hyperbaric oxygen therapy in the treatment of autism in children and adolescents. METHODS: We systematically searched seven databases (PubMed, Embase, Cochrane Libraries, Web of Science, CNKI, Wanfang, and SinoMed) up to March 20, 2024, as well as references lists. The included studies evaluated the effect of HBOT on improving the core symptoms of autism and other specific symptoms (e.g., communication, sociability, cognitive awareness, behavior), including RCTs and quasiexperimental studies. The Cochrane Collaboration’s Risk of Bias Assessment Tool for Randomized Trials (RoB2.0) and the JBI Risk of Bias Tool for Quasi-Experimental Studies were used as quality assessment tools. A random effects model was used to conduct a meta-analysis of the core and specific symptoms of autism. Sensitivity analyses and meta-regression were performed to identify sources of heterogeneity and assess result robustness. A Grading of Recommendations Assessment, Development, and Evaluation (GRADE) evidence certainty analysis was performed for outcomes. This systematic review is registered with PROSPERO (CRD42024527220). RESULTS: A total of 17 studies with 890 patients were ultimately included in the metaanalysis. The meta-analysis revealed moderately large, significant effects of hyperbaric oxygen therapy, reducing core symptoms of autism [SMD = -0.66, 95 % CI (-1.04, -0.28), P = 0.0006], and improving three aspects of daily performances (communication [SMD = -0.88, 95 % CI (-1.71,-0.04), P = 0.04], cognitive awareness [SMD = -0.93, 95 % CI (-1.51, -0.35), P = 0.002], and behavior [SMD = -0.80, 95 % CI (- 1.46, -0.13), P = 0.02] in children and adolescents with autism. This systematic review and meta-analysis have limitations such as poor quality and high heterogeneity of the included study. CONCLUSION: These findings underscore the potential benefits of hyperbaric oxygen therapy in managing autism-related symptoms and improving daily functioning in affected children and adolescents. Future rigorously designed, high-quality studies are required to confirm the efficacy of hyperbaric oxygen therapy and establish standard treatment protocols.

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20. Vasconcelos-Moreno MP, Prates-Baldez D, Santos-Terra J, Deckmann I, Di Gesu IN, Lemann RS, Riesgo R, Gottfried C, Kapczinski F. Clinical Interplay Between Autism Spectrum Disorder and Bipolar Disorder: A Narrative Review. Trends Psychiatry Psychother. 2025.

INTRODUCTION: Autism Spectrum Disorder (ASD) and Bipolar Disorder (BD) present significant challenges in diagnosis due to their complex nature. This review aims to examine the interface and overlapping features of these conditions. METHODS: We conducted a narrative review to examine clinical overlap, common psychiatric comorbidities, and shared neurobiological bases between ASD and BD. RESULTS: There is a notable convergence of symptoms in ASD and BD, including mood instability and emotional dysregulation; irritability, impulsivity, and aggressive behavior; deficits in social skills and social cognition; impairments in executive functions; sleep disturbances; problematic sexual behaviors; and sensory sensitivities. Common psychiatric comorbidities and shared neurobiological basis further underscore this potential interplay. CONCLUSION: Despite distinct clinical trajectories and diagnostic criteria, our findings indicate a significant overlap in symptoms and clinical presentations between ASD and BD. This complexity makes it challenging to identify the co-occurrence of ASD and BD, which can lead to difficulties in accurately diagnosing and managing both conditions simultaneously.

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21. Wang T, Xia L, Cheng L. Is simpler better? Semantic content modulates the emotional prosody perception in Mandarin-speaking children with autism spectrum disorder. J Commun Disord. 2025; 113: 106495.

INTRODUCTION: It is still under debate whether and how semantic content will modulate the emotional prosody perception in children with autism spectrum disorder (ASD). The current study aimed to investigate the issue using two experiments by systematically manipulating semantic information in Chinese disyllabic words. METHOD: The present study explored the potential modulation of semantic content complexity on emotional prosody perception in Mandarin-speaking children with ASD. Two emotional prosody identification tasks were designed, in which different levels of prosodic and lexical complexity were incrementally included in four stimulus types: pseudo-words, semantically-neutral words, semantics-prosody congruent, and incongruent emotion words. Twenty-four children with ASD and twenty-two typically developing (TD) children were required to focus on the prosodic channel to label emotions while ignoring the semantic information. RESULTS: Emotionally neutral semantic content exerted little negative influence on the ASD group’s accuracy, while semantic-prosodic incongruence in emotion-label words had dramatic adverse impacts. Although distinct emotional prosody identification patterns were observed across the two groups, the confusion matrices suggested that the participants with ASD had developed similar patterns in identifying the five prosodies. CONCLUSIONS: Children with ASD demonstrated a stronger adverse impact from the incremental complexity in the overlap between prosody and lexical cues. However, notably, they have tended to develop a typical emotional prosody recognition pattern. Thus, the poorer performance in the ASD group might originate from the possible developmental delay in suppressing semantic interference rather than from inherent emotion-specific impairments.

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