1. Axelsdottir AE, Gudmundsdottir A, Thorsteinsdottir I, Einarssonr I, Leifsdottir K. [Neurodevelopmental Disorders in Preterm Children born in Iceland between 2012 and 2017]. Laeknabladid. 2026; 112(1): 17-23.

INTRODUCTION: Survival among extremely preterm infants has increased markedly due to advances in neonatal care. These children remain at elevated risk for neuropsychological difficulties, particularly ADHD, autism spectrum disorder (ASD), and executive function deficits, which impacts learning, behavior, and emotional regulation. This study aimed to assess the prevalence of such difficulties at 6-7 years of age and the proportion referred to The Councelling and Diagnostic Center (CDC). METHODS: This was a retrospective cohort study. Data from neuropsychological assessments by the Children’s Hospital follow-up care for preterm infants and CDC evaluations were analyzed using RStudio 4.3.3. RESULTS: The cohort included 60 children born before 28 weeks of gestation and/or with birthweight below 1000g. 18 (30.0%) were followed at the CDC and 45 underwent neuropsychological assessment at the Children’s Hospital. Attention difficulties were present in 53.3%, executive function deficits in 46.7%, hyperactivity in 28.6%, and signs of ASD in 13.3%. Full-scale IQ could not be determined in 64.4% of the children due to significant discrepancies between subtest scores, making it an unreliable measure of cognitive ability. Significant differences in the ability to obtain a full-scale IQ score (p<05) by sex. No significant associations were observed with ADHD or ASD or executive function deficits. CONCLUSION: Neurodevelopmental disorders are common among extremely preterm infants, and the findings suggest that a large proportion of them need to undergo further diagnostic evaluation. The results also indicate that many will require support within the educational and healthcare systems.

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2. Bouder S, L KM, Lee D. Insomnia severity and its association with gaming behavior and perceived health in autistic adults. BMC Psychol. 2025.

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3. Cao F, Xiong L, Wu H, Chen Y, Zha J. Novel KDM3B Variants in Two Chinese Patients With Global Developmental Delay and Autism. Int J Dev Neurosci. 2025; 85(8): e70077.

BACKGROUND: Haploinsufficiency of KDM3B has also been linked to developmental delay, intellectual disability, autism spectrum disorder (ASD) and immunodeficiency known as developmental delay, intellectual disability, joint contractures and facial dysmorphism; immunodeficiency; and short stature (DIJOS) syndrome. However, the phenotypic spectrum is not fully defined, and genotype-phenotype associations need to be further studied. METHODS: Here we report on two unrelated patients with global developmental delay and autistic features and provide detailed clinical information of both patients, including cranial magnetic resonance imaging (MRI), electroencephalography (EEG), metabolic screening, hearing assessment and neurodevelopmental testing. Whole exome sequencing (WES) was performed for potential genetic causes, and candidate variants were verified via Sanger sequencing. Interpretation of variants was performed in accordance with ACMG guidelines. RESULTS: For Patient 1, we detected a de novo pathogenic heterozygous nonsense variant in KDM3B (c.1970C > G, p.Ser657*). The canonical splice-site variant (c.3973-1G > C) in KDM3B that we found in Patient 2 was classified as likely pathogenic. Clinically, Patient 1 had severe developmental retardation, deafness and autistic tilt, whereas Patient 2 had milder retardation and autistic behaviours with normal hearing. The splice-site variant in Patient 2 may disrupt an upstream intron and is predicted to influence splicing, which may elicit nonsense-mediated mRNA decay and contribute a more severe interference, comparatively. CONCLUSION: Our results broaden the mutational and phenotypic spectrum of KDM3B-related disorder and highlight the phenotypic heterogeneity even in patients with the same type of variant. Functional analysis underscores the importance of KDM3B in neurodevelopment, optic nerve formation and cognition. Additional studies will be required to define the differences in clinical phenotype at the molecular level.

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4. Das S, Kumari AP, Singh K, Shukla S, Khandelwal S, Kumar A. Molecular Repositioning of Celecoxib as a Neurotherapeutic Agent in Fragile X‑Associated Tremor/Ataxia Syndrome (FXTAS). ACS Pharmacol Transl Sci. 2025; 8(12): 4264-84.

Fragile X-associated tremor/ataxia syndrome (FXTAS), a nucleotide repeat expansion disorder, arises from CGG repeat expansions in the 5′ untranslated region (UTR) of the fragile X messenger ribonucleoprotein 1 (FMR1) gene, leading to RNA foci formation and toxic protein aggregation via repeat-associated non-AUG (RAN) translation. These fundamental mechanisms often lead to a series of consequences, including splicing defects, neuroinflammation, mitochondrial dysfunction, impaired autophagy, and cell death. Targeting toxic RNA repeats offers a promising therapeutic strategy. In this study, we identified Celecoxib, a selective cyclooxygenase-2 (COX-2) inhibitor, as a potential treatment for FXTAS. At first, we utilized various biophysical assays and molecular docking to confirm Celecoxib’s strong binding affinity toward the r-(CGG)(exp) RNA. Further studies in the cellular model demonstrated the potency of Celecoxib in reducing toxic protein aggregates and improving splicing defects. Notably, it significantly reduces FMR1PolyG aggregates in the Drosophila FXTAS model, leading to improved locomotor impairments and the mitigation of associated downstream pathological consequences. Moreover, Celecoxib treatment significantly extends the lifespan of the flies. Thus, these results collectively support the therapeutic potential of repurposing Celecoxib for the treatment of FXTAS.

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5. Ding X, Luo H, Zhang J, Yang H, Fan Y, Wu J, Wu S. Comparative effectiveness of non-pharmacological interventions for anxiety, depression, and quality of life in individuals with autism spectrum disorder: A systematic review and network meta-analysis. Front Psychiatry. 2025; 16: 1660412.

BACKGROUND: Individuals with autism spectrum disorder (ASD) commonly experience comorbid depression, anxiety, and impaired quality of life (QoL), significantly affecting daily functioning and social adaptation. Non-pharmacological interventions (NPIs), offering an alternative without drug-related side effects, have gained increasing attention for emotional improvement and health promotion. However, the comparative effectiveness of different NPIs remains unclear, and clinical decisions lack robust evidence. METHODS: This study adhered to the PRISMA-NMA guidelines. Five databases (PubMed, Embase, Cochrane Library, Web of Science, and EBSCOhost) were systematically searched to identify randomized controlled trials (RCTs) published before March 2025. A total of 67 RCTs involving 3,604 ASD participants were included. A frequentist network meta-analysis using a multivariate random-effects model was conducted in Stata, along with pairwise meta-analyses, to compare the relative effects of mindfulness-based interventions (MBI), cognitive behavioral therapy (CBT), behavioral and functional training (BEHAVE), physical activity (PHYS), sensory therapies (SENS), technology- and family-based interventions (TAFI), and other interventions (OTH) on anxiety, depression, and QoL. Standardized mean differences (SMDs) with 95% credible intervals (CIs) were used to estimate effects, and SUCRA rankings were calculated to assess comparative efficacy. RESULTS: MBI showed the greatest improvement in anxiety symptoms (SMD = -0.84, 95% CI: -1.32 to -0.36; SUCRA = 91.4%), CBT ranked highest for depression reduction (SMD = -0.77, 95% CI: -1.25 to -0.28; SUCRA = 90.1%), and PHYS performed best for enhancing QoL (SMD = 0.59, 95% CI: 0.20 to 0.98; SUCRA = 87.5%). The analyzed population primarily consisted of high-functioning male individuals. Subgroup analyses showed stronger effects in adults and with moderate-duration interventions (9-16weeks). No significant inconsistency or publication bias was detected. LIMITATIONS: Findings mainly apply to high-functioning ASD populations without intellectual disability. Heterogeneity in interventions and assessments should be considered. CONCLUSIONS: Different NPIs exhibit distinct advantages in improving emotional symptoms and QoL among individuals with ASD. MBI, CBT, and PHYS demonstrate relative superiority for anxiety, depression, and QoL respectively, supporting their targeted application in clinical and rehabilitative settings. Future studies should prioritize long-term follow-up, refined intervention designs, and personalized strategies tailored to ASD subgroups to enhance clinical utility and scalability. SYSTEMATIC REVIEW REGISTRATION: https://www.crd.york.ac.uk/prospero/, identifier CRD420251021423.

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6. Doulou F, Piolino P, Angeard N. Correction: Virtual reality programs targeting executive functions and social cognition evaluation and/or rehabilitation in children with ADHD or ASD-A narrative review. Front Psychol. 2025; 16: 1740118.

[This corrects the article DOI: 10.3389/fpsyg.2025.1583052.].

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7. Furuta Y, Ezell KM, Hamid R, Cogan JD, Cassini TA, Rives L, McMinn A, Shah S, Peltier AC, Layfield S, Fletcher RS, Tedder ML, Louie RJ, Lee JA, Kerkhof J, Rzasa J, Sadikovic B, Al Mamun A, Sheehan JH, Moth CW, Meiler J, Vawter-Lee M, Mendoza-Sengco PM, Holzen JB, Pruthi S, Phillips JA, 3rd, Tinker RJ. Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural Analyses. Mol Genet Genomic Med. 2025; 13(12): e70165.

BACKGROUND: Intellectual developmental disorder with autism and macrocephaly (IDDAM, OMIM #615032) is an autosomal dominant neurodevelopmental disorder characterized primarily by intellectual disability, autism spectrum disorder, macrocephaly, tall stature, gastrointestinal symptoms, and variable neurological manifestations. Most cases result from de novo pathogenic variants in CHD8. METHODS: We conducted genome sequencing through the Undiagnosed Diseases Network (UDN) in a female proband harboring a CHD8 variant of uncertain significance (VUS), whose clinical presentation was consistent with IDDAM but included atypical features such as ptosis and hearing loss. Variant pathogenicity was further evaluated using EpiSign DNA methylation analysis and structural biology modeling. RESULTS: Genome sequencing confirmed the CHD8 variant inherited from her father, who exhibited a subtle feature, including traits consistent with attention-deficit/hyperactivity disorder. Pathogenicity was confirmed through epigenetic signature testing (EpiSign), demonstrating characteristic methylation patterns and structural biology analysis, predicting significant protein destabilization. CONCLUSION: We describe the case of IDDAM caused by a paternally inherited CHD8 variant. Our findings highlight the importance of considering parental inheritance in IDDAM diagnoses and suggest epigenetic and structural biology analyses as valuable tools for reclassifying VUS when variant pathogenicity remains uncertain.

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8. Khan H, Khalil M. Unmasking Compartment Syndrome in an Autistic Adolescent: A Case of Median Nerve Compression Following Distal Radius Open Reduction and Internal Fixation (ORIF). Cureus. 2025; 17(11): e96984.

Acute compartment syndrome is a rare but limb-threatening complication of trauma and surgery. In neurotypical patients, pain out of proportion to injury is a key diagnostic clue. In autistic and other neurodivergent individuals, altered sensory processing and communication barriers can mask or distort pain reporting, delaying recognition. We present an adolescent male with autism who sustained a comminuted right distal radius fracture in a high-speed motorbike collision. Following open reduction and internal fixation (ORIF), he developed median nerve compression and impending compartment syndrome, requiring urgent fasciotomy and carpal tunnel release. This case highlights diagnostic challenges in neurodivergent trauma patients and the need for tailored, coordinated care pathways.

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9. Mazefsky CA, Conner CM, Siegle GJ, Scott LN, Bylsma LM, Beck KB, Antezana L, Hu X, Cohen A, Borue X, Handen B. Advancing Research on Suicide and Mental Health in Autistic Adults Through a Research Domain Criteria (RDoC)-Inspired Framework. Autism Adulthood. 2025.

Given the dearth of research on adulthood in autism prior to the last decade, we need methods to accelerate progress. One area of interest is mental health, but studies focusing on isolated methods or limited sets of constructs are unlikely to rapidly identify the many contributors to autistic adult mental health outcomes. We argue that adopting a multimethod, dimensional approach will more rapidly speed progress. One framework designed to encourage this approach is the National Institute of Mental Health (NIMH)’s Research Diagnostic Criterion initiative (RDoC). In this paper, we describe the utility of RDoC and considerations for the design of an RDoC-inspired autism study. We demonstrate this via an example focused on suicide because suicide is one serious and well-documented sequelae of poor mental health. This paper begins with a brief overview of the significance of suicide to autism. Then, the paper outlines key aspects of the RDoC, including consideration of the following: dimensional processes, development, different units of analysis (methods), content domains, and environmental influences. We describe the University of Pittsburgh Autism Center of Excellence (Pitt ACE) as project context; it adds an example of how RDoC can work and concepts to consider when designing an RDoC-inspired autism study. Specific methods and constructs are highlighted that may lead to improved understanding of suicide and mental health in autistic adults, and ultimately more tailored interventions and supports.

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10. Opendak M, Dichter GS, Nordahl CW. Clinical, translational and developmental biomarkers associated with intellectual and developmental disabilities across the lifespan. J Neurodev Disord. 2025; 17(1): 72.

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11. Özcan S, Yeter B. A Novel KMT5B Frameshift Variant Presenting with Autism and Psychiatric Features: Intrafamilial Phenotypic Variation – A Case Report. Mol Syndromol. 2025.

INTRODUCTION: Pathogenic variants in the KMT5B gene, encoding a lysine methyltransferase involved in chromatin remodeling, have been associated with intellectual disability, autism spectrum disorder, and various craniofacial features. However, the detailed genotype-phenotype correlations have yet to be fully elucidated. CASE PRESENTATION: We report a four-year-old male patient who presented with developmental delay, impaired social interaction, repetitive behaviors, and language delay. Whole-exome sequencing identified a novel heterozygous frameshift variant in KMT5B (c.618del; p.Glu206Aspfs*7). Segregation analysis revealed that the patient’s father also carried the same variant and exhibited intellectual disability and obsessive-compulsive disorder. CONCLUSION: By presenting a novel KMT5B variant alongside an atypical adult neuropsychiatric presentation, this report broadens both the variant and phenotypic spectrum of KMT5B haploinsufficiency. It further underscores the potential for neurobehavioral manifestations to extend beyond childhood, advocating for sustained clinical surveillance and age-spanning neuropsychiatric assessment. In this report, we present a boy and his father who both carry a genetic change in a gene called KMT5B. This gene plays a critical role in the development and function of the brain. From early childhood, the boy showed clear signs of neurodevelopmental problems, including delayed speech, difficulties with motor coordination (such as balance and fine movements), and behaviors consistent with autism spectrum disorder. Interestingly, his father also carries the same genetic variant, but his symptoms were milder and only became noticeable later in life. He experienced learning difficulties and psychiatric symptoms during adulthood, but was not diagnosed earlier because his signs were less severe. Genetic testing using whole-exome sequencing identified a previously unreported (novel) mutation in the KMT5B gene in both individuals. This means that this specific change in the gene has not been documented in any existing medical or genetic databases. This case is important for two main reasons. First, it contributes new knowledge about how mutations in the KMT5B gene can affect brain development and behavior. Second, it highlights that the same genetic mutation can lead to very different symptoms in different people – even among close family members. This is known as variable expressivity, and it emphasizes the importance of considering a broad range of clinical signs when evaluating genetic conditions, understanding how KMT5B mutations present in diverse ways can help doctors improve diagnosis and support for other individuals and families affected by similar genetic changes. eng.

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12. Refaat D, Cole C, Healey MC, Taylor B. Improving Medical Student Confidence in Managing Patients With Learning Disabilities and Autism Through a Simulation. Cureus. 2025; 17(11): e96969.

Background People with learning disabilities (LD) and autism face significant health inequalities, partly due to clinicians’ limited confidence and lack of training in inclusive care. Undergraduate curricula often emphasise theory over practical skills. This project aimed to improve final-year medical students’ confidence through a combined lecture and immersive simulation using actors with lived experience. Methods Thirty-two students from Queen Mary University of London attended an introductory lecture, and eight participated in small-group simulation sessions. Scenarios were co-designed with actors with LD and autism, supported by communication aids and hospital passports. Debriefing involved actors, carers, and faculty. Confidence was assessed using pre- and post-intervention Likert-scale surveys, with qualitative feedback collected. Results Students reported improved confidence across all measured domains (p < 0.001). All simulation participants strongly agreed that the teaching should be mandatory. Qualitative feedback highlighted authenticity, safe practice opportunities, and the value of direct lived experience. Conclusion The innovation provided both knowledge transfer and experiential practice. Simulation offered a safe environment for communication and skill development, aligning with Kolb's experiential learning cycle. Involving actors with lived experience met Allport's conditions for meaningful intergroup contact, supporting attitudinal change. The intervention aligns with the GMC Outcomes for Graduates, the Equality Act 2010, and the National Health Service (NHS) Long-Term Plan to reduce health inequalities. Simulation with actors with lived experience improved medical students' confidence in caring for patients with LD and autism, although the sample size of students attending could limit the power of these results. The approach is replicable with adaptations and may contribute to addressing healthcare inequalities.

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13. 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. 2025.

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.

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14. Singh K, Dhingra D. Neuroprotective Effect of Palmatine Against Anti-Epileptic Drug Induced Autism in Wistar Rat Pups. Int J Dev Neurosci. 2025; 85(8): e70076.

BACKGROUND: Autism spectrum disorder is a developmental disorder that affects the central nervous system. It is characterized by impaired social interaction and communication, along with patterns of repetitive behaviours. The present study was conducted to evaluate the effect of palmatine in autistic male rat pups. METHODS: In this study, sodium valproate (400 mg/kg) was injected by subcutaneous route on the 13th gestational day to Wistar female rats to induce autism-like symptoms in their pups. Palmatine (0.25, 0.5 and 1 mg/kg) was orally administered for 35 consecutive days (from postnatal day 24 to 58) to autistic male pups. The pups were subjected to various behavioural tests like the tail immersion test, actophotometer, tail suspension test, elevated zero maze, social interaction test and Morris water maze. One hour after the administration of drugs on postnatal day 58, animals were sacrificed by cervical dislocation followed by the collection of brain and blood samples which were used for estimations of biochemical parameters. Histopathological studies on the cerebellum part of the brain of pups were also carried out. RESULTS: The results demonstrated a significant decrease in body weight; a significant increase in eye opening time; and significant impairment of motor coordination (as indicated by a significant increase in negative geotaxis score) in male pups, indicating the induction of autism in them. There was a significant increase in pain threshold, hyperlocomotion, depressive and anxious behaviours, impairment of learning and memory and impairment of social interaction in autistic pups. There was a significant increase in oxidative stress (indicated by elevated malondialdehyde and nitrite levels along with a decrease in catalase activity and GSH level), acetylcholinesterase and MAO-A activities in the brain of autistic pups. There was also an increase in plasma corticosterone levels in autistic pups. Palmatine significantly reversed behavioural, biochemical and histopathological alterations in autistic male rat pups. CONCLUSION: It was concluded that palmatine produced neuroprotective activity in autistic male rat pups possibly through amelioration of brain oxidative stress, inhibition of acetylcholinesterase and MAO-A activities and decrease of plasma corticosterone concentration.

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15. Veilleux C, Erenben ED, Ismail N. Autism and hormones: A perspective from the immune system and the gut microbiome. Horm Behav. 2025; 177: 105867.

Autism Spectrum Disorder (ASD) affects 2.7 % of individuals worldwide, and it is characterized by abnormal social interactions, communication deficits, restricted interactions, and repetitive behaviors. This disorder appears early in life, and it has been diagnosed more frequently in males than in females. Several factors have been shown to be associated with the onset of ASD. However, the mechanisms underlying the onset of this neurodevelopmental disorder and the higher prevalence in males remain unclear. This review discusses the role of hormonal imbalances, immune system activation during the prenatal (maternal immune activation) and the neonatal periods (neonatal immune activation), immune dysregulation and gut dysbiosis in the development of ASD. It also highlights the many interactions between these systems and demonstrates the true complexity of this disorder.

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16. Wang L, Sun M. Autistic traits influence aesthetic judgments of abstract color works. BMC Psychol. 2025.

Autism spectrum disorders (ASD) are characterized by atypicalities in both social and non-social behaviors, yet little is known about how autistic traits influence aesthetic judgments. This study investigated the impact of autism tendencies, measured by the Autism-Spectrum Quotient (AQ), on aesthetic evaluations of abstract color works. We recruited 111 university students to rate the colorfulness of, and their liking for, images composed of geometric color shapes. The hues of these shapes were systematically varied in terms of both their perceptual distance and categorical membership. Results demonstrate that larger hue distances enhanced both colorfulness and liking ratings. Critically, higher AQ was associated with reduced liking for color combinations with larger perceptual distances and for those spanning different color categories. Furthermore, although AQ scores demonstrated an overall negative association with both colorfulness and liking ratings, the strength of this association was highly hue-dependent, peaking in purple-pink regions and diminishing to minimal levels in approximately yellow-green areas. Notably, the patterns of hue-dependent modulation differed between colorfulness and liking ratings. While colorfulness ratings showed a consistently negative relationship with AQ across hues, liking ratings displayed a biphasic pattern, transitioning from relatively enhanced preference in the green-cyan region to strongly reduced liking in the purple-pink region. It is suggested that autistic traits influence perceptual and affective dimensions of color experience through partially distinct mechanisms. These findings reveal the nuanced role of autistic traits in shaping aesthetic experience, highlighting dissociable effects on low-level perceptual processing versus higher-order aesthetic evaluation.

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17. Wang Y, Paul KN, Block GD, Deboer T, Colwell CS. Dim light at night disrupts the sleep-wake cycle and exacerbates abnormal EEG activity in Cntnap2 knockout mice: implications for autism spectrum disorders. Mol Autism. 2025; 16(1): 62.

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