1. Bhattacharya B, Toor D, Chatterjee M. Connecting the dots: environmental pollution and Autism Spectrum Disorder. Rev Environ Health. 2025; 40(3): 602-15.

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition characterized by challenges in social communication and repetitive behavior. While the exact etiology of ASD remains elusive, researchers have increasingly turned their attention to the role of environmental factors in its development. Among these factors, environmental pollution has emerged as a potential contributor to the rising prevalence of ASD cases worldwide. This review delves into the growing body of scientific evidence suggesting a significant association between environmental pollution and the risk of ASD. It explores the environmental pollution that have been implicated, including air pollution, water contaminants, heavy metals, pesticides, and endocrine-disrupting chemicals. The detrimental impact of these pollutants on the developing brain, particularly during critical periods of gestation and early childhood has been discussed. This will provide insights into the possible mechanisms by which the various pollutants may influence the neurodevelopmental pathways underlying ASD. Additionally, the potential interplay between genetic susceptibility and environmental exposure is explored to better understand the multifactorial nature of ASD causation. Considering the alarming increase in ASD prevalence and the ubiquity of environmental pollutants, this review emphasizes the urgent need for further investigation and the adoption of comprehensive preventive measures.

Lien vers le texte intégral (Open Access ou abonnement)

2. Bowie K. Autism and ADHD de-diagnosing services could be rolled out in Sweden-should the US and UK follow suit?. Bmj. 2025; 390: r2023.

Lien vers le texte intégral (Open Access ou abonnement)

3. Cai M, Dai Y, Duan M, Chen M, Ji Y, Zhou L, Chen L, Zhang L. Intervention adherence and its predictors among parents of children with autism spectrum disorder. J Pediatr Nurs. 2025; 85: 549-57.

AIMS: To investigate the intervention adherence among parents of children with Autism Spectrum Disorder (ASD) and explore its predictors. METHODS: In this cross-sectional study, a total of 209 parents of children with ASD were recruited from a tertiary hospital in Guangzhou, China, from September 2022 to August 2023. Treatment Compliance Scale (TCS), Autism Behavior Checklist (ABC), Parenting Sense of Competence Scale (PSOC), and Parenting Stress Index-Short Form (PSI-SF) were used for data collection. Multiple linear regression analysis was performed to explore the predictors of intervention adherence. RESULTS: The TCS score was 60.18 ± 12.81, and the item mean scores of professional treatment, family intervention and regular follow-up were 3.73 ± 1.02, 2.98 ± 0.80 and 3.65 ± 0.93, respectively. Multiple linear regression analysis showed that fathers’ educational level (β = 0.272, P < 0.01), mothers' daily time with children (β = 0.257, P < 0.05), sensory domain in ABC (β = 0.146, P < 0.05), parenting self-efficacy (β = 0.229, P = 0.001) and parenting satisfaction (β = 0.152, P < 0.05) statistically significantly predicted TCS, accounting for 24.7 % of the variance [F (P) = 6.256, P < 0.001]. CONCLUSION: Intervention adherence among parents of children with ASD was at a moderate level. Parenting confidence (self-efficacy and satisfaction), fathers' education level, mothers' daily time with children, and children's sensory processing abnormalities significantly predicted adherence. These findings suggest that targeted interventions focusing on enhancing parental confidence and providing tailored support based on family characteristics may improve parents' intervention adherence.

Lien vers le texte intégral (Open Access ou abonnement)

4. Fajardo-Castro LV, Jalili S, Martínez-Tur V. Front Line Leadership in Organisations for Persons With Intellectual and Developmental Disabilities: A Systematic Review. J Appl Res Intellect Disabil. 2025; 38(5): e70125.

BACKGROUND: Leadership is crucial for frontline managers leading direct support staff in intellectual and developmental disability (IDD) services because it impacts both the staff and service users. METHOD: A systematic review using CADIMA software, guided by the 2020 PRISMA statement, analysed 32 articles from Scopus, WOS, PsycINFO and EBSCO databases. RESULTS: Practice Leadership (PL) emerges as the most commonly applied theoretical model, although other approaches, such as transformational leadership, are also utilised. PL showed significant associations with positive outcomes for service users (improved quality of life, fewer challenging behaviours) and staff (lower stress, higher job satisfaction). Specific competencies for frontline managers were identified. Despite its demonstrated benefits, numerous barriers impede the implementation of effective leadership, including funding constraints, high staff turnover and increased administrative demands. CONCLUSION: Although PL provides a valuable framework for understanding leadership in IDD services, future research should focus on testing effective leadership interventions in diverse contexts.

Lien vers le texte intégral (Open Access ou abonnement)

5. Graham F. Daily briefing: No strong evidence backs up Trump’s claims about Tylenol and autism. Nature. 2025.

Lien vers le texte intégral (Open Access ou abonnement)

6. Greenberg E, Joshi G, Geller D. Autism Spectrum Disorder and Obsessive-Compulsive Disorder: A Conundrum. J Am Acad Child Adolesc Psychiatry. 2025.

Lien vers le texte intégral (Open Access ou abonnement)

7. Hidema S, Nishimori K, Otsuka A, Horiai M, Mizuno K, Ono T, Maejima Y, Shimomura K. Kamikihito ameliorates social recognition in oxytocin gene deficient mice and environmentally induced autism spectrum disorder model mice. J Ethnopharmacol. 2025; 353(Pt A): 120263.

ETHNOPHARMACOLOGICAL RELEVANCE: Kamikihito (KKT) is a traditional Japanese medicine used to treat insomnia, anemia, anxiety and neurosis. Its scientific mechanism of action is not well understood. AIM OF THE STUDY: This study aimed to evaluate the therapeutic effect of KKT on deficits in social recognition ability, a phenotype of autism spectrum disorder (ASD), and to investigate the involvement of oxytocin in its action. MATERIALS AND METHODS: KKT was orally administered to wild-type (WT), Oxytocin knockout (Oxt (-/-)), and Oxt receptor knockout (Oxtr (-/-)) mice, and social recognition ability was assessed using a three-chamber test. Neuronal activation changes in the brain after social stimulation were evaluated using c-Fos immunostaining in WT, Oxt (-/-), and Oxt (-/-) mice treated with KKT. Additionally, we examined whether KKT ameliorates social recognition impairment in LPS-induced ASD model mice (LPS mice), where LPS serves as an environmental factor. RESULTS: Abnormal social recognition behavior was improved in the Oxt (-/-) mice after sustained KKT administration, but not in the Oxtr (-/-) mice. c-Fos immunostaining revealed excessive neural activation of the Oxt (-/-) mice following social stimulation, which was reduced to WT levels after KKT administration. Social recognition impairment in the LPS mice was improved by KKT. CONCLUSION: Our results suggest that KKT may improve social recognition by acting through Oxtr and by suppressing excessive neural activation after social stimulation. These effects may represent part of KKT’s mechanism of action. It is possible for KKT to become a commonly used treatment for ASD-like symptoms.

Lien vers le texte intégral (Open Access ou abonnement)

8. Hiralal KR, Dieleman GC, Kok BR, Diederen LD, Duman RP, Hillegers MH, Mous SE. Latent trajectories in autistic individuals: A systematic review. Autism. 2025: 13623613251370818.

Autism is heterogenic in core and co-occurring characteristics. Subtyping autism in a longitudinal manner aids the understanding of autism development throughout life and thus enhances personalized support. In this systematic review, we summarized the literature on latent core autism characteristics trajectories and trajectories of other functional domains in autistic individuals and identified predictors of trajectory assignment. We searched Embase, Medline, PsycINFO, Cochrane Central, Web of Science, and Google Scholar until April 22, 2025. We included longitudinal observational studies that applied statistical subtyping methods on core autism characteristics or other functional domains in autistic individuals. A total of 30 eligible analyses were included. The included analyses investigated core autism characteristics (10), adaptive behavior (10), behavioral problems (7), adverse childhood experiences (1), cognitive development (1), and feeding problems (1). For each domain, we found differing numbers and shapes of trajectories. Cognitive development was predictive of core autism symptom trajectory classifications, where cognitive development was generally lower in more severely affected core autism symptom trajectories. We found mixed results for other predictors. Future studies should focus on understudied outcome domains, such as motor coordination or sleep problems. In addition, more research is needed to understand when and why individuals deviate from their subgroup trajectory.Lay abstractAutistic people can have very different characteristics. Investigating groups based on their characteristics over time can improve our understanding of how autistic people develop and why development can differ between people. We reviewed studies that group autistic individuals based on their development of autistic features and other characteristics. We included 30 analyses and summarized their findings. The studies show that there are different ways autistic individuals develop based on core autistic characteristics (social difficulties and focused, intense and repetitive behaviors, interests and activities), as well as for adaptive behavior, behavioral problems, cognitive development, and feeding problems. For core characteristics, lower cognitive abilities seemed to be related to less favorable developmental pathways. This review showed that autistic people may show distinct patterns of development in core characteristics and other domains. We also highlight that some domains of functioning, such as motor coordination and sleeping problems, are not studied in the literature and future studies should focus on these domains as well since these are difficulties that autistic people often face. Identifying distinct developmental patterns in autistic children can help to predict the outcome of autistic people and may aid in offering personalized support.

Lien vers le texte intégral (Open Access ou abonnement)

9. Jia Q, Wang X, Li Z, Li W, Jia R, Yue Z, Zhu Z, Ma B. Study on the Therapeutic Effect of Yu-Mu-Tiao-Shen Acupuncture on Rats with Autism Spectrum Disorder. Neuropsychiatr Dis Treat. 2025; 21: 2195-210.

PURPOSE: Acupuncture has been shown to improve symptoms of Autism Spectrum Disorder (ASD), but its underlying mechanisms remain unclear. This study aims to explore the behavioral effects of Yu-Mu-Tiao-Shen Acupuncture on ASD model rats and investigate the potential molecular mechanisms based on SFRP5, β-catenin, and GSK-3β. PATIENTS AND METHODS: On gestation day 12.5, SD (Sprague-Dawley) rats were intraperitoneally injected with valproic acid (VPA), and their offspring were considered a reliable ASD rat model. The offspring were randomly assigned to the VPA group or the VPA_acupuncture group (n=7), with a normal group serving as the control. The VPA_acupuncture group underwent Yu-Mu-Tiao-Shen Acupuncture from postnatal days 8 to 28. All rats underwent behavioral testing, including social interaction, open field, and Morris water maze tests. Subsequently, hippocampal and prefrontal cortical tissues were extracted for histological analysis and RNA sequencing to assess gene expression differences across groups, as well as protein expression in hippocampal tissues. RESULTS: Behavioral tests demonstrated that the Yu-Mu-Tiao-Shen acupuncture technique improved spontaneous activity, abnormal social interaction, and alleviated learning and memory impairments in autistic rat models. In the VPA_acupuncture group, total travel distance, average speed, social interaction time, time spent exploring novel rats, and the number of platform crossings were significantly increased (P < 0.05). Transmission electron microscopy revealed abnormal synaptic and mitochondrial structures in the hippocampal tissue of the VPA group. In contrast, the SD and VPA_acupuncture groups showed relatively intact pre- and post-synaptic membrane structures and normal mitochondrial morphology. Differentially expressed gene (DEG) analysis revealed 111 significantly altered genes in the hippocampus and 282 in the prefrontal cortex between the VPA_acupuncture and VPA groups. Furthermore, in the VPA_acupuncture group, the hippocampal expression levels of SFRP5, β-catenin, and GSK-3β proteins were significantly reduced compared to the model group (P < 0.05). CONCLUSION: Yu-Mu-Tiao-Shen Acupuncture can regulate the expression of relevant proteins, modulating synaptic plasticity in hippocampal and prefrontal neurons, which effectively improves motor, social cognitive, and spatial memory abilities in ASD rats. This study provides valuable insights for further exploration of ASD treatments.

Lien vers le texte intégral (Open Access ou abonnement)

10. Kalimuthu B, Lu H, Steenhagen A, Dong Q, Gray M, Rigby MJ, Endresen A, Chang Q, Li L, Puglielli L. Increased expression of ATase1/NAT8B or ATase2/NAT8 in the mouse results in an autistic-like phenotype with altered dendritic branching and spine formation. Mol Psychiatry. 2025.

Neurons heavily depend on the ability of the secretory pathway to deliver correctly folded polypeptides to the periphery of the cell for the assembly, maintenance, and normal functioning of synapses. The endoplasmic reticulum (ER) acetylation machinery has emerged as a novel branch of the more general ER quality control machinery. It regulates the positive selection of correctly folded nascent glycoproteins, thus ensuring the efficiency of the conventional secretory pathway. ER acetylation requires the activity of two ER-luminal acetylCoA:lysine acetyltransferases, ATase1/NAT8B and ATase2/NAT8. Both acetyltransferases depend on the influx of acetyl-CoA into the ER from the cytosol, which is ensured by the coordinated action of the citrate transporters, SLC25A1 and SLC13A5, and the ER acetyl-CoA transporter, AT-1. Gene duplication events affecting ATase1 and ATase2 are associated with rare disease phenotypes that include autism and intellectual disability with dysmorphism. Here, we generated mice with neuron-specific overexpression of human ATase1 or ATase2. The animals display autistic-like behaviors with altered synaptic plasticity, altered neuronal morphology, and altered synaptic structure and function. Mechanistic assessment demonstrates that widespread proteomic changes and altered dynamics of the secretory pathway underly the synaptic defects. The phenotype of ATase1 and ATase2 overexpressing mice is reminiscent of SLC25A1, SLC13A5 and AT-1 overexpressing models. Therefore, when taken together, our results support the argument that the intracellular citrate/acetyl-CoA pathway, with the ATases acting as the last output, is immediately connected to the pathogenesis of certain rare forms of autism spectrum disorder.

Lien vers le texte intégral (Open Access ou abonnement)

11. Kaufmann WE. Study of trofinetide in Rett syndrome: Lessons from an approved drug for a severe neurodevelopmental disorder. Dev Med Child Neurol. 2025.

Lien vers le texte intégral (Open Access ou abonnement)

12. Kim SY, Youngstrom EA, Norris M, Levine A, Butter EM, Stephenson KG. Identifying Latent Cognitive Profiles in Autism Spectrum Disorder and Attention-Deficit/Hyperactivity Disorder Using the Stanford-Binet Intelligence Scales-5th Edition. Assessment. 2025: 10731911251369977.

There is limited information concerning the presence of empirically derived, person-centered latent cognitive profiles in youth with autism spectrum disorder (ASD) or attention-deficit/hyperactivity disorder (ADHD) and whether these profiles are diagnostically useful. The aim of this study was to identify empirically driven cognitive subgroups in youth with ASD or ADHD and examine predictors of those profiles. A retrospective chart review was conducted with patients seen at a developmental assessment clinic who were identified with ASD or ADHD aged 2 to 16 years (n = 1,679, M(age) = 8.4, SD(age) = 3.1). A Latent Profile Analysis with Stanford-Binet-Fifth Edition composites resulted in 14 profiles, which were roughly parallel to each other across various levels of cognitive functioning. Several profiles were characterized by a relatively large discrepancy between the Nonverbal IQ and Verbal IQ. Younger age and higher IQ were significant predictors of those with scattered profiles, whereas diagnoses (i.e., ASD or ADHD), sex, and emotional-behavioral functioning were not.

Lien vers le texte intégral (Open Access ou abonnement)

13. Lang K. Trump’s claims on Tylenol (paracetamol), vaccines, and autism-what’s the truth?. Bmj. 2025; 390: r2025.

Lien vers le texte intégral (Open Access ou abonnement)

14. Ledford H. Trump team backs an unproven drug for autism – but does it work?. Nature. 2025.

Lien vers le texte intégral (Open Access ou abonnement)

15. Lee IO, Fritsch DM, Kerz M, Sowden JC, Constable PA, Skuse DH, Thompson DA. Correction: Global motion coherent deficits in individuals with autism spectrum disorder and their family members are associated with retinal function. Sci Rep. 2025; 15(1): 32711.

Lien vers le texte intégral (Open Access ou abonnement)

16. Looi MK, Bowie K. Autism: Trump links condition to Tylenol and touts leucovorin as « first » US therapeutic. Bmj. 2025; 390: r2004.

Lien vers le texte intégral (Open Access ou abonnement)

17. Miranda MF, Faundes V, Alliende MA, Santa María L. Impact of brief telehealth interventions on parental stress and challenging behaviors of children with fragile X syndrome. Orphanet J Rare Dis. 2025; 20(1): 483.

BACKGROUND: Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability (ID) with comorbid autism and several support requirements. Challenging behaviors are frequently reported as a main concern for parents and caregivers, who also experience increased stress levels. There is little evidence of telehealth parent-implemented intervention (PII) for this population. Our study focused on describing the impact that brief telehealth parent-implemented interventions had on the parental stress levels and challenging behaviors of children with FXS in a Latin American country. METHODS: Thirteen caregivers were assessed pre- and postintervention with the Parenting Stress Index short form (PSI-SF), Motivation Assessment Scale (MAS), and Fragile-X-specific adaptation of the Aberrant Behavior Checklist-Community questionnaire (ABC-C(FX)). Four telehealth sessions were developed with each participant to guide their intervention with their children with FXS. Statistical analysis was performed using paired t tests or Wilcoxon matched-pairs tests, and Pearson’s and Spearman’s correlations were used for comparisons. All the statistical analyses were performed using GraphPad Prism v8.3.0, and a two-tailed p value < 0.05 was considered to indicate statistical significance. RESULTS: PSI-SF (TS(initial)=85(52.5-97) vs. TS(final)=55(27.5-90), p = 0.0117) and two MAS subscale frequencies of occurrence (scape(initial)=10(4-12.5) vs. scape(final)=3(0.5-8.5), p = 0.0146; tangible(initial) =11.69 ± 8.27 vs. tangible(final)=7.154 ± 6.56, p = 0.0146) significantly decreased. ABC-C(FX) did not significantly differ. The LSI-SF was positively correlated with three ABC-C(FX) subindexes (lethargy/withdrawal s = 0.719, p = 0.007; hyperactivity r = 0.682, p = 0.01; and irritability s = 0.69, p = 0.011). CONCLUSIONS: Telehealth parent-implemented interventions decreased parental stress and challenging behavior perception and increased feelings of parental competence. The PII benefits interventions for children with FXS and is a key aspect to consider in situations where movement, transfer and access to specialized professionals are difficult or interfered with in a particular region or because of a major sanitary alert.

Lien vers le texte intégral (Open Access ou abonnement)

18. Montaser J, Umeano L, Pujari HP, Nasiri SMZ, Parisapogu A, Shah A, Khan S. Correction: Correlations Between the Development of Social Anxiety and Individuals With Autism Spectrum Disorder: A Systematic Review. Cureus. 2025; 17(9): c311.

[This corrects the article DOI: 10.7759/cureus.44841.].

Lien vers le texte intégral (Open Access ou abonnement)

19. Morales A, Korsakova E, Mansooralavi N, Ravikumar A, Rivas G, Soliman P, Rodriguez L, McDaniel T, Lund A, Cooper B, Bhaduri A, Lowry WE. Probing DNA damage in Rett syndrome neurons uncovers a role for MECP2 regulation of PARP1. Stem Cell Reports. 2025: 102645.

Methyl-CpG-binding protein 2 (MECP2)/Rett syndrome is characterized by a postnatal loss of neurophysiological function and regression of childhood development. While Rett neurons have been described as showing elevated senescence and P53 activity, here we show that molecular and physiological dysfunction in neurons lacking MECP2 is triggered by elevated DNA damage. Using human induced pluripotent stem cell (hiPSC)-derived isogenic lines, we find that MECP2 directly interacts with members of the DNA repair machinery, including PARP1. Here, we present evidence that MECP2 also regulates PARP1 activity, and restoration of PARP1 activity in MECP2-null neurons can reverse DNA damage, senescence, dendritic branching defects, and metabolic dysfunction. These data from a human disease-in-a-dish model system support the notion that dysfunction in Rett syndrome neurons could be caused by changes in PARP activity.

Lien vers le texte intégral (Open Access ou abonnement)

20. Munkhsaikhan Y, Tumurkhuu M, Zuunnast K, Boldbaatar D, Bold S, Kiriya J, Jimba M, Shibanuma A. Social capital and quality of life among caregivers of children with Autism Spectrum Disorder in Mongolia: a cross-sectional study. BMC Public Health. 2025; 25(1): 3123.

BACKGROUND: Caregivers of children with Autism Spectrum Disorder (ASD) tend to experience a low quality of life (QoL) due to caregiving burdens. Supporting these caregivers, social capital is expected to improve their overall well-being. However, there is limited research on the relationship between social capital and QoL among caregivers of children with ASD in low- and middle-income countries. This study explored this association in the context of caregivers of children with ASD in Mongolia. METHODS: This study conducted a cross-sectional online survey using a structured questionnaire. Caregivers with a child diagnosed with ASD were recruited through institutions related to ASD in Mongolia. Social capital was assessed by the Looman Social Capital Scale. QoL was assessed using the 26-item World Health Organization Quality of Life instrument. The association between social capital and QoL was identified by using multiple linear regression analysis. RESULTS: Among 216 caregivers, the majority of them were mothers (87.1%), married (88.0%), and had higher education (84.3%). Over half of the children (59.7%) were between 0-4 years old, and 24.5% of the total children were girls. Having a better social capital score was positively associated with psychological well-being (B = 0.57, 95% CI [confidence interval] 0.29 to 0.85), social relationship (B = 0.58, 95% CI 0.17 to 0.99), and environmental support (B = 0.70, 95% CI 0.37 to 1.02) domains of QoL. No evidence was found on the association between social capital and the physical health domain of QoL. Among the four domains of QoL, environmental support had the lowest score (mean: 36.5, standard deviation: 13.9). CONCLUSIONS: This study is the first to explore the association between social capital and QoL among caregivers of children with ASD in low- and middle-income countries. Social capital was positively associated with three QoL domains, excluding the physical domain, with caregivers-mostly mothers-scoring the lowest in environmental support. Their social capital and QoL scores were lower than those in previous studies. To address these issues, resource-limited countries should implement community-level initiatives, such as peer support groups, alongside developing healthcare systems and social welfare programs tailored for caregivers and children with ASD.

Lien vers le texte intégral (Open Access ou abonnement)

21. Panda PK, Sharawat IK, Gupta D, Palayullakandi A, Sopanam S, Saha S. Efficacy and safety of risperidone and aripiprazole in reducing severity of irritability in children with autism spectrum disorder: A randomized controlled trial. Brain Dev. 2025; 47(5): 104454.

BACKGROUND: Both risperidone and aripiprazole are effective in reducing irritability severity in children with autism spectrum disorder (ASD). However, head-to-head comparison trials between these two drugs are scarce in the literature and have shown conflicting results. METHODS: This trial compared the efficacy and safety of risperidone and aripiprazole in children and adolescents with ASD, aged 6-18 years. After a two-week placebo trial, placebo responders were excluded. The remaining participants were randomized into two groups. The outcomes were the change in the irritability subscale of the Aberrant Behavior Checklist (ABC-I), Childhood Autism Rating Scale (CARS2), Conners’ Parent Rating Scale-Revised (CPRS-R), Children’s Sleep Habits Questionnaire (CSHQ), Sensory Profile-2 (SP-2), cognition and the nature and frequency of treatment-emergent adverse events. RESULTS: Seventy-two patients (36 in each group) were recruited. Changes in the ABC-I score (-13.6 ± 4.3 vs. -12.2 ± 3.9, p = 0.15), ABC total score (-27.5 ± 15.9 vs. -26.8 ± 15.7, p = 0.85), CARS score (-2.9 ± 0.7 vs. -2.7 ± 0.8, p = 0.26), CPRS-R Global Index T-score (-10.63 ± 8.54 vs. -9.61 ± 8.92, p = 0.62), number of patients with significant sensory processing abnormalities (18/36 vs. 18/36, p = 1.0), CSHQ score (-4.6 ± 3.8 vs. -3.9 ± 3.1, p = 0.39), and full-scale IQ (1.9 ± 1.6 vs. 1.8 ± 1.5, p = 0.75) were comparable between groups. In multivariate regression analysis, CPRS-R Global Index T-score (p = 0.02) and full-scale intelligence quotient (p = 0.03) were independent predictors of changes in the ABC-I score. The frequency of adverse events was similar in both groups. Serum prolactin levels decreased in the aripiprazole group at 12 weeks but increased in the risperidone group. CONCLUSIONS: Risperidone and aripiprazole demonstrate comparable efficacy and safety in managing irritability in children and adolescents with ASD. Trial Registry no: Clinical Trial Registry of India (CTRI/2021/12/038721).

Lien vers le texte intégral (Open Access ou abonnement)

22. Pearson H, Fox D. Why is autism really on the rise? What the science says. Nature. 2025.

Lien vers le texte intégral (Open Access ou abonnement)

23. Rahdar M, Salimi M, Eskandari K, Nazari M, Davoudi S, Raoufy MR, Mirnajafi-Zadeh J, Hosseinmardi N, Behzadi G, Janahmadi M. Behavioral assessments and differential excitability, oscillatory dynamics in dorsal and ventral hippocampal CA1 neurons in male rats of a prenatal VPA-exposed autism model. Prog Neuropsychopharmacol Biol Psychiatry. 2025: 111507.

The distinct electrophysiological properties of the dorsal (dHPC) and ventral (vHPC) hippocampus play crucial roles in cognitive and emotional processing. This study investigates the variations in firing activities between these hippocampal regions to develop targeted therapies for conditions such as autism. We conducted behavioral assessments and explored the properties of CA1 pyramidal neurons in the dHPC and vHPC using whole-cell patch-clamp recordings in a prenatal Valproic Acid (VPA)-exposed autistic-like model. Additionally, oscillatory activities in the dHPC and vHPC were analyzed through local field potential recordings across specific frequency bands during immobility in awake rats. Our evaluation confirmed ASD-like phenotypes, including social deficits, repetitive behaviors, cognitive impairments, and emotional dysregulation. Significant differences in membrane properties and firing activities were revealed between the dHPC and vHPC regions, examining network alterations and intrinsic neuronal properties. Notably, autism induction increased excitability in dorsal CA1 neurons compared to ventral neurons in the autism-like group. Analysis of delta, theta, and gamma frequency bands showed distinct spectral power differences between control and autism-like groups exposed to VPA. Autistic-like rats exhibited higher delta and theta power, with a significant impact on gamma activity, specifically in the dHPC. These findings provide novel insights into the behavioral and electrophysiological alterations in a prenatal VPA-exposed autistic-like model, emphasizing hippocampal hyperexcitability’s role in ASD. The results underscore the complexity of anatomical and functional distinctions between the dHPC and vHPC, highlighting spectral dynamics and potential pathological alterations in oscillatory patterns under neuropsychiatric conditions.

Lien vers le texte intégral (Open Access ou abonnement)

24. Singh K, Shukla S, Kumari AP, Qurashi A, Verma AK, Kumar A. Repurposing Nitazoxanide to target the expanded r(CGG)(n) repeat RNA for therapeutic intervention in fragile-X tremor/ataxia syndrome. Int J Biol Macromol. 2025; 329(Pt 2): 147864.

Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) is a debilitating neurodegenerative disorder linked to CGG trinucleotide repeat expansions in the FMR1 gene. These expanded repeats produce toxic FMR1poly-Glycine (FMR1polyG) proteins in neurons through mechanisms such as Repeat-Associated Non-AUG (RAN) translation and RNA foci formation, driving disease progression. In this study, we investigate the potential of Nitazoxanide (NTZ), a broad-spectrum antiparasitic and antiviral medication, as a therapeutic agent for FXTAS by targeting CGG repeat-associated toxicity. This comprehensive approach utilizing biophysical techniques, bioinformatic studies, cellular assays, and Drosophila models reveals NTZ’s remarkable ability to bind specifically to toxic CGG repeat RNA, particularly GG mismatches, and to inhibit FMR1polyG aggregation. Biophysical methods, including Circular Dichroism (CD), Isothermal Titration Calorimetry (ITC), Electrophoretic Mobility Shift assays (EMSA), and Nuclear Magnetic Resonance (NMR) spectroscopy, accompanied with Molecular Docking, confirmed that NTZ effectively binds to CGG repeat RNA and mitigates its toxicity. Moreover, treatment with NTZ significantly reduced FMR1polyG-associated toxicity, corrected the splicing defects in FXTAS cell models, and improved different phenotypes in the Drosophila model of FXTAS. These compelling findings position NTZ as a promising candidate for neuroprotection in FXTAS, indicating its remarkable therapeutic potential and paving the way for future clinical applications to improve outcomes for the affected patients.

Lien vers le texte intégral (Open Access ou abonnement)

25. Smythe L, Asan L, Nicholson TR, Happé F, Edwards MJ. Co-occurring functional neurological disorder and autism: an exploratory study of comorbidities in a retrospective cohort study using TriNetX. J Neurol. 2025; 272(10): 653.

BACKGROUND: Functional Neurological Disorder (FND) encompasses motor, cognitive, and sensory symptoms resulting from disruptions in brain-body communication. Emerging research suggests a higher-than-expected occurrence of autism in FND, potentially due to shared cognitive mechanisms and overlapping comorbidities. However, large-scale characterisation of this dual-diagnosis is lacking. METHODS: Using de-identified health records from the TriNetX research network, we identified children and adults with both FND and autism (‘FND + Autism’), comparing them to individuals with FND only (‘FND-only’) and autism only (‘Autism-only’). We examined psychiatric comorbidities (e.g. mood, anxiety, post-traumatic stress disorder, personality disorders, obsessive-compulsive disorder), intellectual disability and ADHD. RESULTS: Of 220,312 individuals with an FND diagnosis, and 674,971 individuals with an autism diagnosis, 5,152 (2.3% of FND, 0.76% of autism) had both FND and autism. The rates of autism were therefore 6 times higher in FND compared to the base rates of the TriNetX population. Most were diagnosed with autism before FND, with over one-third diagnosed in childhood. Functional seizures were the most common FND subtype, and were more frequent in FND + Autism than FND-only (adults: 52% vs. 44%; children: 47% vs. 42%). Comorbidity across all psychiatric conditions was significantly higher in FND + Autism compared to both comparison groups. ADHD was particularly elevated in FND + Autism (adults: 50% vs. 13% FND-only, 36% Autism-only; children: 64% vs. 21% FND-only, 41% Autism-only). CONCLUSIONS: This study presents the largest dataset to date characterising individuals with co-occurring FND and autism. Findings are consistent with previous findings of higher rates of autism in people with FND and reveal a potentially distinct clinical profile, marked by elevated rates of ADHD and psychiatric comorbidities, and increased occurrence of functional seizures compared to FND- or Autism-only groups. Recognising this overlap may improve diagnosis, clinical care, and understanding of mechanisms underlying the co-occurrence of FND and autism.

Lien vers le texte intégral (Open Access ou abonnement)

26. Szakal C, Crespi B. Adrenarche, social cognition, and the development and evolution of autism spectrum traits. Front Psychiatry. 2025; 16: 1576392.

Autism Spectrum Disorder (ASD) is a heterogeneous neurodevelopmental condition characterized by underdeveloped social cognition, along with restricted interests and repetitive behaviors. ASD manifests through a range of genetic, environmental, and psychosocial factors, which influence brain development and lead to maladaptive social and behavioral processes. While early diagnosis is common, ASD traits can develop and express themselves through various stages of childhood, driven by dynamic changes in cognitive and social abilities in relation to stressors and challenges. A recent study reports genomic and psychological evidence for two different age-related trajectories of autism development, one early, and one later and near the time of adrenarche and middle childhood, around ages 7 – 10. Given that middle childhood represents a key period for the development of social cognition including complex theory of mind and peer relationships, that adrenarche mediates the origin and social adaptations of middle childhood, and that social challenges increase with its onset, we hypothesize that autism onset, expression and diagnoses during this period may involve alterations to adrenarche, and to its endocrinological and neurological bases. Adrenarche involves onset and increase in secretion of the androgens dehydroepiandrosterone (DHEA) and its sulfate (DHEAS). A series of systematic reviews was conducted to evaluate the hypothesis that DHEA or DHEAS levels are associated with ASD, autism spectrum traits, or aspects of brain development relevant to autism. The reviews showed that: (1) higher DHEA demonstrated evidence of positive associations with aspects of internalizing and externalizing, including social anxiety, with especially notable effects in girls, and (2) higher DHEA showed evidence of association with ASD diagnoses overall, as also indicated by a recent meta-analysis. These findings provide initial support for the hypothesis that alterations to the social adaptations associated with adrenarche, and DHEA levels in middle childhood may underlie a subtype of autism with diagnosis during this developmental period.

Lien vers le texte intégral (Open Access ou abonnement)

27. Ung EC, Borja NA. LEO1 haploinsufficiency is associated with developmental delays and autism spectrum disorder. J Hum Genet. 2025.

LEO1 encodes a core subunit of the evolutionarily conserved RNA polymerase associated factor 1 complex (PAF1C), a key regulator of eukaryotic gene expression. While burden analyses suggest an association between rare LEO1 variants and an increased risk for neurodevelopmental disorder, the paucity of reported cases has prevented a definitive characterization of the resulting phenotype. We describe a male child with a novel de novo frameshift variant in LEO1 c.446dup (p.Asp149Gluf s*2) and undertake a comprehensive phenotype delineation of all previously reported patients. Developmental delay and autism spectrum disorder were core features common across patients with truncating variants, though rarer manifestations were also observed. This analysis supports LEO1 haploinsufficiency as a mechanism for this neurodevelopmental disorder. Further research is needed to more completely ascertain its associated features and penetrance. We nevertheless encourage its recognition as a definitive disease gene and inclusion in multigene panels.

Lien vers le texte intégral (Open Access ou abonnement)

28. Vogel G. Autism initiative embraces little-tested vitamin as a treatment. Science. 2025; 389(6767): 1282-3.

FDA to approve leucovorin despite questions about whom it might help.

Lien vers le texte intégral (Open Access ou abonnement)

29. Walters I, Malcolmson C, Potashner R, Nelson C, Cho R. Pseudothrombotic microangiopathy resulting from severe vitamin B12 deficiency in a pediatric patient with autism: A case report. SAGE Open Med Case Rep. 2025; 13: 2050313×251377265.

Vitamin B12 deficiency is typically characterized by megaloblastic anemia, but can also rarely present with pseudomicroangiopathic hemolytic anemia or multilineage cytopenias secondary to dyserythropoiesis and apoptotic cell death. We describe a 12-year-old male with autism spectrum disorder who presented with fever, night sweats, and weight loss. Laboratory testing identified severe neutropenia and hemolytic anemia, and an undetectably low vitamin B12 level. Dietary history confirmed significant food restriction over the preceding 6 months. He received 1000 µg of intramuscular vitamin B12 daily for 7 days and subsequently transitioned to oral therapy. His hemoglobin, hemolytic markers, and neutrophil count normalized within 13 days of vitamin B12 initiation. Our report describes a rare and severe manifestation of vitamin B12 deficiency in a patient with autism spectrum disorder and emphasizes the importance of screening for micronutrient deficiencies among vulnerable pediatric populations to avoid unnecessary and invasive testing.

Lien vers le texte intégral (Open Access ou abonnement)

30. Wang NY, Zhu ZY, Jiao ZY, Pan NR, Baig MMI, Qiu AW, Zhang WW. Ocular manifestations in autism spectrum disorder. Int J Ophthalmol. 2025; 18(10): 2000-6.

Autism spectrum disorder (ASD) represents a neurodevelopmental disorder that has been the focus of numerous studies on the central nervous system (CNS). The embryological origin of the brain and retina is shared, with the axons of retinal ganglion cells (RGC) developing into the optic nerves that enter the brain through the dorsal lateral geniculate nucleus (LGN) of the thalamus, LGN, and other visual cortices. Given the evidence that individuals with ASD exhibit impairments in the visual mechanisms, including deficits in emotional face recognition, and difficulty in maintaining gaze control as well as eye contact, some studies have documented retinal alterations in individuals with ASD. These have been identified through ophthalmic assessments, including optical coherence tomography (OCT), optical coherence tomography angiography (OCTA), and electroretinography (ERG). With the improvements in ASD animal models, it is possible to obtain a better understanding of vision dysfunction in ASD by analyzing the molecular mechanisms of retinal function and structure abnormalities. This review aims to provide a summary of the recent research on ocular alterations in ASD patients and animal models, intending to contribute to further investigation of the eye-brain connection and communication.

Lien vers le texte intégral (Open Access ou abonnement)

31. Wojnaroski M, Newton E, Patel AD, Bode RS, Gajarski R, Gallup J, Rose ME, Abdel-Rasoul M, Auer N. Multidisciplinary Intervention for Children With Epilepsy and Autism Spectrum Disorder Admitted for EEG: A New Standard of Care. Neurol Clin Pract. 2025; 15(6): e200543.

BACKGROUND AND OBJECTIVES: Approximately one-third of children with epilepsy develop intractable epilepsy and require multiple-day hospital admission for EEG and neuroimaging to determine other interventions for seizure reduction (Phase 1). Of note, children with epilepsy are at increased risk of autism spectrum disorder (ASD); however, prolonged hospitalization may be difficult due to developmental delays, sensory sensitivities, and challenging behavior. Challenging behavior during or reluctance to complete admission may lead to delayed or incomplete information about seizures and interfere with treatment. To address this need, we created a multidisciplinary team and a novel program, the Phase 1 ASD and epilepsy intervention program. We used quality improvement (QI) methodology, and our aim was to increase the percentage of patients with ASD and epilepsy who participated in a treatment program before Phase 1 admission from 0% to 80% in the first year. METHODS: Participants included children with ASD and epilepsy who were referred for Phase 1 at a large children’s hospital with a level 4 epilepsy center. After referral, caregivers were called to complete an intake and gather information about the child’s development, preferences, and needs for admission. The program includes individualized planning for admission based on the child’s needs, team communication about patient characteristics and needs, and behavior intervention. The intervention was implemented and monitored using QI methodology. RESULTS: All children with ASD referred for Phase 1 were enrolled in the program, and we achieved a centerline shift in the first 2 years, which has been sustained for 5 years (68 of 81 participants, 83.9%). The age of patients ranged from 2 to 18, with a mean age of 10.7 years. Seventy percent were male, and 66.7% were White. All children who participated completed the multiple-day EEG and all required medical procedures. DISCUSSION: Our work demonstrates the feasibility of the program, which is now standard of care at our hospital. Similar interventions can be implemented for Phase 2 admissions or other medical procedures. Children with ASD who participate in a multidisciplinary intervention program can successfully complete potentially challenging hospital admissions, allowing them equitable access to critical care.

Lien vers le texte intégral (Open Access ou abonnement)

32. Yang R, Xu Y, Xu J, Huang C, Zhu F, Wang T, Kong R, Xiao J, He B, Gu X, Wang HL. Lacticaseibacillus rhamnosus GR-1 prevents autism-like behaviors by reshaping the maternal and offspring microbiome. NPJ Biofilms Microbiomes. 2025; 11(1): 187.

As a prevalent neurodevelopmental disease, whether ASD (autism spectrum disorder) can be ameliorated by the early use of a single microbe remains unknown. Here we used a lactobacillus strain, Lacticaseibacillus rhamnosus GR-1 (LGR-1), for prenatal intervention in autism-like mice with either environmental or idiopathic origins by exclusively administering to the pregnant dams at a dose of 10(9)/mouse/day, followed by offspring behavioral assessment with 3-chamber trial and marble burying test. The results revealed that LGR-1 prevented the occurrence of autism-like symptoms, as evidenced by the improved behaviors and restored E/I (excitatory-inhibitory) balance in the prefrontal cortex of male pups. In parallel, the offspring microbiome was reshaped by LGR-1 treatment, probably mediated by the vertical transmission of maternal microbiome, with its roles further unraveled by fecal microbiota transplant and cross-fostering experiments. In addition to gut commensals, the LGR-1-shaping vaginal microbiota also contributed to the establishment of « beneficial » microbiome. Regarding key taxa in offspring, Akkermansia muciniphila was influenced by LGR-1 and exerted impact on behaviors via pathways related to IL-17-producing lymphocytes. Our findings demonstrate that prenatal microbial administration protects offspring against autism-like behavioral phenotypes through microbiome transmission, highlighting a potential microbe-based therapeutic avenue to mitigate ASD risk.

Lien vers le texte intégral (Open Access ou abonnement)