1. Corrigendum to: « Caregiver-Reported Monitoring of Catatonia in Autistic Adolescents: An Outpatient Measurement-Based Approach ». J Child Adolesc Psychopharmacol. 2026: 10445463261490293.

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2. Adekogbe A, Tran A, Miller G, Norberg M, Monk A, Chanda T, Hou X, Palowski K, Baumer N, Johnson KT, Wilkinson C. Beyond Words: Natural Language Sampling of Lexical and Non-Word Vocalizations in Preschool Children with Autism, Down Syndrome, and Fragile X Syndrome. medRxiv. 2026.

PURPOSE: This study examined whether word-based and non-word natural language sampling (NLS) measures complement standardized language scores in characterizing expressive communication among preschool children with autism with language impairment (AUT-LI), Down syndrome (DS), and fragile X syndrome (FXS). METHOD: Participants included 82 preschool children with AUT-LI ( n = 32), DS ( n = 34), or FXS ( n = 16). Expressive communication was characterized using the Preschool Language Scales and 10-minute natural language samples collected during a standardized play-based protocol. NLS measures included traditional word-based metrics, such as lexical diversity, intelligibility, and word approximations, as well as tiered non-word vocalization measures, including non-speech, single-phoneme, and multi-phoneme vocalizations. Analyses examined age associations, diagnostic group differences, between group differences in variability, and exploratory communication profiles derived using principal component analysis and partitioning around medoids clustering. RESULTS: Diagnostic groups did not significantly differ on standardized expressive language scores. Children with FXS showed higher performance than the AUT-LI and DS groups on several word-based NLS measures, whereas non-word vocalization measures primarily revealed differences in within-group variability. Word-based NLS measures were consistently associated with standardized expressive language skills, while associations for non-word vocalizations varied by vocalizations type. Cluster-validity indices factored a two-cluster solution. A hypothesis-informed three cluster solution that included non-word vocalizations suggested Higher Language, Lower Output, and High Output-Low Structure profiles. CONCLUSIONS: Standardized and NLS measures provide complementary descriptions of expressive communication in children with neurodevelopmental disorders. Non-word vocalization coding may be especially useful for describing clinical meaningful variation among children with limited expressive language.

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3. Bessé M, Gomot M, Capdeville J, Prévost P, Tuller L, Bouazzaoui B, Taconnat L, Houy-Durand E, Angel L, Morel-Kohlmeyer S. Cognitive Aging Patterns in Autism: Parallel, Accelerated, or Safeguarded?. J Autism Dev Disord. 2026.

PURPOSE: Research in autism has historically focused on childhood, leaving cognitive aging in autistic adults poorly understood. This study investigated whether cognitive aging in autism follows similar or distinct patterns compared to non-autistic adults. We also explored how subjective executive function relates to objective performance across adulthood in these groups. METHODS: Fifty-six autistic and 106 non-autistic adults (19-69 years) completed tasks assessing processing speed, verbal short-term and working memory, episodic memory (recall performance and semantic strategy use), and executive functions (inhibition, flexibility), along with a self-report executive function questionnaire. RESULTS: Autistic participants scored lower than non-autistic individuals on measures of processing speed, episodic memory, and cognitive flexibility, and reported greater executive difficulties. Age-related effects were similar between groups across most domains, except episodic memory, which declined only in non-autistic adults, suggesting a safeguarded pattern in autism, linked to more efficient semantic strategy use in older autistic adults. For both the autistic and non-autistic participants, task-based executive function measures were negatively associated with age, while self-reported difficulties decreased, indicating a dissociation between subjective and objective executive function measures across lifespan. CONCLUSION: Overall, the findings provide evidence for a parallel and safeguarded aging pattern in autism, arguing against accelerated cognitive decline.

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4. Childs H, Mukherjee R, Riese T, Kennedy M. Experienced Autism: Contributions of Childhood Adversity and Internal Distress in Adult Autism Assessments. Autism. 2026: 13623613261485612.

Adult autism assessments prioritise clinician observations and developmental history, whereas many adults understand autism through lived experience. Within this tension, factors influencing high endorsement of autistic traits remain unclear. We analysed 245 consecutive NHS first adult autism assessments (median age = 33 years, 52% female), including Social Responsiveness Scale-2 (SRS‑2), Generalised Anxiety Disorder-7 (GAD‑7), Patient Health Questionnaire-9 (PHQ‑9) and Adverse Childhood Experiences (ACE) questionnaire. Although internalising symptoms and childhood adversity were common, neither was significantly associated with clinic-diagnosed autism (CA; 56.7%, n = 141). We defined ‘experienced autism’ (EA) as moderate or above scores on both SRS‑2 domains. Thirty‑five per cent of EA adults (64/181) did not meet clinical diagnostic thresholds. Linear models adjusted for sex closely associated EA with elevated internalising symptoms (GAD‑7 and PHQ‑9) regardless of CA (all p ⩽ .002). Cumulative ACE scores did not distinguish EA/CA groups but were independently associated with female sex (p = .012). Exploratory multinomial analyses suggested that childhood sensory overwhelm and internalising may contribute to convergence of EA and CA. Associations involving childhood maltreatment were less robust and should be considered hypothesis-generating. These findings support a preliminary hypothesis that elevated autism self-reports may sometimes reflect transdiagnostic associations between adversity and internalising symptoms.Lay AbstractMany adults seeking autism assessments score highly on autism questionnaires, but not all receive an autism diagnosis. This can feel invalidating and may leave people without support. During autism assessments at our NHS clinic, previously unassessed adults completed questionnaires about autism, anxiety, low mood and adverse childhood experiences, including abuse, family difficulties and sensory overwhelm. We reviewed 245 assessment reports (average age 35 years, about half women). We found high levels of childhood adversity, previous mental health diagnoses and current anxiety and depression in our clinic. These levels were similar for adults who received a diagnose of autism (57%) and those who did not (43%). High scores on autism questionnaires were common, yet 35% of adults with moderate or higher scores did not receive a diagnosis. Statistical analyses suggested that high autism questionnaire scores were strongly linked to higher anxiety and depression symptoms for both men and women. Women attending the clinic reported more adverse childhood experiences. When we considered current anxiety and depression, childhood adversity and sex together in the same statistical model, adults who scored highly on the autism questionnaire and were diagnosed autistic at the clinic were more likely to report sensory difficulties in childhood. Some exploratory findings suggested that childhood experiences may contribute differently across groups, although these patterns require replication in future research. Overall, our findings suggest that in first-time adult autism assessments, autism questionnaire scores may be influenced by worry, low mood, difficult childhoods and social experiences, as much as by autism. Our findings support closer connections between adult autism clinics and trauma and mental health specialists, both for diagnosis and for support options. As research links difficult childhoods with many adult health conditions, it may be important to consider anxiety, depression and childhood experiences when thinking about possible autism or connections to other conditions.

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5. Choi B, Wilkinson CL, Sideridis G, Tager-Flusberg H, Nelson CA. Associations of maternal depressive symptom trajectories with frontal electroencephalographic alpha asymmetry and internalizing behaviors in infants with and without older autistic siblings. Infant Behav Dev. 2026; 85: 102249.

This study examined maternal depressive symptom trajectories and their associations with neural and behavioral outcomes in infants with and without an older autistic sibling (n = 142). Mothers reported depressive symptoms when children were 6, 12, 18, and 24 months. At 24 months, children’s frontal electroencephalographic (EEG) alpha asymmetry and internalizing and externalizing behaviors were assessed. Latent class growth modeling identified three distinct maternal depressive symptom trajectories. These trajectories were not associated with older sibling status and the participating child’s subsequent autism diagnosis. However, they were significantly associated with children’s EEG asymmetry and internalizing behaviors. Specifically, children of mothers whose depressive symptoms were initially elevated or increased over time showed greater right (relative to left) frontal brain activity or elevated internalizing behaviors, respectively. No associations were observed for externalizing behaviors. These findings suggest that maternal mental health is linked to early neurobehavioral development, independent of familial autism likelihood, and highlight the importance of considering caregiver well-being in early developmental contexts.

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6. Cleary S, Matthews C, Teskey G, Bowdish D, Crosbie J, Nicolson R, Weksberg R, Kelley E, Jones J, Anagnostou E, Foster JA. Peripheral biomarkers of anxiety in autism and attention deficit/hyperactivity disorder. Dev Neurosci. 2026: 1.

Neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD) and attention deficit/hyperactivity disorder (ADHD), have high rates of comorbid anxiety disorders. Emerging evidence suggests neuroimmune signalling may partially contribute to behavioural symptoms in NDDs. This study examined the association between neuroinflammation and anxiety symptoms in children and adolescents with NDDs. The sample comprised 134 participants (33 typically developing (TD), 31 ADHD, 70 ASD recruited through the Province of Ontario Neurodevelopmental Disorders (POND) Network. Plasma markers of neuroinflammation were quantified using multiplex immunoassays. Anxiety scores, measured using the Child Behavior Checklist, were significantly higher in ASD and ADHD compared to TD participants. Six neuroinflammatory markers differed between diagnoses, with ASD showing elevated plasma levels of brain-derived neurotrophic factor (BDNF), interleukin-18 (IL-18), and vascular endothelial growth factor (VEGF), while ADHD displayed reduced fractalkine (CXCL1), IL-6, and tumor necrosis factor-α (TNF-α) levels compared to TD. Elastic net regression identified five neuroinflammatory markers, IL-18, β-nerve growth factor (β-NGF), BDNF, soluble receptor for advanced glycation end products (sRAGE), and TNF-α, as predictors of anxiety, collectively explaining 15% of the variance in anxiety levels. These findings reveal associations between peripheral neuroinflammation markers and anxiety in NDDs that reflect complex patterns beyond pro and anti-inflammatory classifications, warranting further investigation as potential biomarkers of behavioral symptoms.

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7. Ghilav R, Talebzadeh Shoushtari M. Compassion-Focused Therapy for Mothers of Children With Autism Spectrum Disorder: Impact on Parental Burnout, Self-Criticism, and Psychological Distress. J Autism Dev Disord. 2026.

PURPOSE: Mothers of children with autism spectrum disorder (ASD) frequently experience a substantial caregiving burden that heightens their vulnerability to parental burnout, harsh self-criticism, and severe psychological distress. This study evaluated the efficacy of compassion-focused therapy (CFT) in reducing parental burnout, self-criticism, and psychological distress among mothers of children with ASD. METHODS: A pretest-posttest experimental design with a waitlist control group and a 3-month follow-up was employed. The target population consisted of mothers of children with ASD attending rehabilitation centers, psychology clinics, and autism associations in Ahvaz, Iran, in 2025. Using purposive sampling, 64 eligible mothers were recruited and randomly assigned to the experimental or control group (n = 32 per group). The experimental group received eight weekly 70-min CFT sessions, while the control group received no intervention. Data were collected using the Gilliam Autism Rating Scale-Third Edition (GARS-3), Parental Burnout Assessment (PBA), Forms of Self-Criticising/Attacking and Self-Reassuring Scale (FSCRS), and 21-item Depression, Anxiety, and Stress Scale (DASS-21). RESULTS: Repeated measures ANOVA revealed significant main effects of time and group, along with significant time-by-group interactions across all variables. At posttest, CFT significantly reduced parental burnout, self-criticism, and psychological distress in the experimental group compared with the control group (p<.01). These gains were maintained at the 3-month follow-up, demonstrating the intervention's enduring efficacy. CONCLUSION: The findings indicate that CFT is an effective intervention for alleviating these psychological burdens. Integrating CFT into family support programs is strongly recommended to enhance the long-term psychological well-being of mothers raising children with ASD.

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8. Hitomi K, Katayama S, Nakada S, Hanaki S. Crohn’s Disease Presenting as an Abdominal Wall Abscess in an Adolescent With Autism Spectrum Disorder. Case Rep Pediatr. 2026; 2026: 8225541.

Crohn’s disease (CD) is a subtype of inflammatory bowel disease characterized by discontinuous lesions and transmural inflammation. Delayed diagnosis may lead to fistula formation between the intestine and adjacent organs. However, most CD-associated fistulas are enteroenteric or perianal, and abdominal wall abscesses are rarely reported in pediatric patients. We report a case of CD presenting as an abdominal wall abscess in a 15-year-old girl with autism spectrum disorder. Contrast-enhanced computed tomography revealed a fistulous communication between the abscess cavity and the transverse colon. Percutaneous drainage and antibiotic therapy were performed to control the infection. Colonoscopy demonstrated skip lesions with longitudinal ulcers, cobblestone-like mucosa, and inflammatory polyps. Histopathological examination showed active chronic colitis compatible with inflammatory bowel disease. Remission induction therapy consisting of elemental diet, 5-aminosalicylic acid, and corticosteroids was initiated after infection control. Her clinical condition gradually improved, and she was discharged on hospital Day 37. During follow-up, her appetite improved and she gradually gained weight. At 18 months after discharge, contrast-enhanced computed tomography showed no recurrence of the abdominal wall fistula, and her clinical condition remained stable. In pediatric patients, CD may present with nonspecific systemic symptoms, which can delay diagnosis. In patients with autism spectrum disorder, communication difficulties may further obscure gastrointestinal symptoms. Clinicians should consider underlying inflammatory bowel disease when children present with unexplained abdominal wall abscesses accompanied by systemic symptoms such as growth failure or malnutrition.

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9. Hoppstock P, Foerster E, Schauer N, Berger M, Fiebig N, Mossaheb N, Baumgartner J, Friedrich F. [From clinical high risk for psychosis to autism spectrum disorder: navigating the challenges of differential diagnosis-A case report]. Neuropsychiatr. 2026.

In the early detection of psychosis, the differential diagnosis between autism spectrum disorder (ASD) and schizophrenia spectrum disorders (SSD) is clinically challenging due to substantial symptom overlap and potential comorbidity. Camouflaging and masking may further contribute to an underlying ASD remaining unrecognized in individuals at clinical high risk for psychosis. The present case report illustrates the long-term clinical course of a patient whose core autistic features were interpreted as treatment-resistant negative symptoms of schizophrenia for years. Only through ongoing clinical observation in an inpatient setting ASD was confirmed according to current gold standards diagnostic. This case highlights the critical need to consider ASD as a primary differential diagnosis in individuals presenting psychotic and psychotic-like experiences during early detection of psychosis. By raising clinical awareness of autistic phenomenology earlier identification may be facilitated, enable timely and appropriate support, and help affected individuals develop a coherent illness model for further therapeutic progress.

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10. Howlin C, Kovalova A, Jaschke A, Greenberg DM, Mason B, Pallás-Ferrer I, Merriam E, Brushwood C, Pool J, Allison C, Odell-Miller H, Hayden K, Moore CS, Atkinson R, Wilfred RT, Baron-Cohen S. Rapid Review of the Brief Observation of Social Communication Change (BOSCC) Shows It Can Detect Behavioural Changes in Social Communication in Autism. Autism. 2026; 30(10): 2465-80.

Reliable measurement of social communication change remains a major challenge in autism research. The Brief Observation of Social Communication Change (BOSCC) was developed to detect subtle changes in communication. This rapid review synthesised current evidence on the BOSCC’s responsiveness, validity, and suitability as a clinical trial endpoint. Systematic searches of PubMed, PsycINFO, CINAHL, and Web of Science identified 19 eligible studies (n = 789). Within-group meta-analyses estimated pre-post standardised mean change (Hedges’ g) for BOSCC and ADOS (Autism Diagnostic Observation Schedule) outcomes, using random-effect (RE) models. The BOSCC total score for intervention arms showed a moderate, significant change (g = -0.32, 95% confidence interval [CI] = [-0.42, -0.22]), with a smaller, non-significant change in control arms (g = -0.15). The Social Communication subscale yielded consistent effects on the intervention arm (g = -0.34, 95% CI = [-0.49, -0.19]), indicating sensitivity to improvements in reciprocal interaction. The restricted and repetitive behaviour (RRB) subscale also showed a moderate significant effect on the intervention arm but with wide confidence intervals indicating a large degree of heterogeneity in this result (g = -0.40, 95% CI = [-0.74, -0.06]). ADOS scores showed a similar pattern of results for the intervention arms, based on a sub-analysis of four studies that included both BOSCC and ADOS scores. Findings indicate that the BOSCC captures clinically meaningful behavioural change across diverse contexts. Variability in RRB outcomes may arise because they are not routinely targeted by supports for social communication, in line with neuro-affirmative approaches.Lay AbstractAutism research often aims to understand how different supports can help autistic children develop skills that are important to them and their families, such as social communication. However, changes in social communication are very difficult to measure. The Brief Observation of Social Communication Change (BOSCC) was developed to help address this. It focuses on observing natural, everyday interactions to capture subtle shifts in social communication and patterns of behaviour, and restricted and repetitive behaviours. In this review, we gathered and summarised all available studies up to March 2025 that used the BOSCC with autistic children, including both intervention studies and studies examining how well the BOSCC works. Across 19 studies including 789 children, we found that the BOSCC was consistently able to detect changes that occurred during a wide range of supports and programmes. The Social Communication subscale was particularly good at picking up changes, but the scale designed to measure repetitive behaviours was more inconsistent. The lack of changes in repetitive behaviours may reflect the diversity and important self-regulatory roles that repetitive behaviours can have, as well as the fact that many short-term interventions do not focus on changing them. The BOSCC was also found to be better at picking up changes in social communication compared to a diagnostic tool called the Autism Diagnostic Observation Schedule (ADOS). Overall, the evidence suggests that the BOSCC, particularly the Social Communication subscale, may be a useful way to detect changes in autistic communication over time. Future work should acknowledge that repetitive behaviours are not routinely targeted by supports intended to enhance communication and may serve a self-regulatory function, to manage sensory input, or to express emotions. This will help ensure that the BOSCC is used in a way that aligns with neurodiversity-affirming principles and supports ethically grounded research.

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11. Hu C, Li H, Li Y, Huang S, Wang W, Zhang F, Zhao Y, Hao Y. The Interaction Between Gut Microbiota and Neuroinflammation in the Gut-Brain Axis of Autism Spectrum Disorder. Curr Neuropharmacol. 2026.

Autism Spectrum Disorder (ASD) is characterized primarily by social deficits and repetitive behaviors, often accompanied by gastrointestinal dysfunction. Its etiology involves interactions among genetic, environmental, and biological factors. Current studies indicate that neuroinflammation and gut microbiota imbalance are key factors in the development of ASD. Neuroinflammation is characterized by elevated levels of pro-inflammatory factors and abnormal glial cell activation, whereas gut microbiota imbalance is evidenced by dysbiosis and compromised intestinal barrier function. The gut-brain axis regulates neuroinflammation and synaptic function through pathways such as short-chain fatty acids (SCFAs), tryptophan metabolism, γ-aminobutyric acid (GABA) metabolism, and the hypothalamic-pituitary-adrenal (HPA) axis. Although modulation of the microbiota, for example, fecal microbiota transplantation (FMT) and probiotics, could improve ASD symptoms by repairing the intestinal barrier and alleviating neuroinflammation, the molecular mechanisms underlying these effects remain to be elucidated. This article reviews the interaction between gut microbiota and neuroinflammation in ASD, aiming to provide insights for treatment and research.

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12. Iacobucci G. ADHD and autism: PIP benefits for teens rising fastest in wealthier areas, analysis suggests. Bmj. 2026; 394: e100931.

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13. Kocaman AA, Önal B. Caregiving burden, physical activity, psychosocial factors, and maternal cognitive function in mothers of children with developmental disabilities: a cross-sectional study. BMC Psychol. 2026; 14(1).

BACKGROUND: Maternal caregiving for children with developmental disabilities is associated with substantial physical and psychosocial demands that may affect cognitive functioning. This study aimed to investigate factors associated with cognitive function among mothers of children with developmental disabilities using a cross-sectional design. METHODS: This cross-sectional study included 179 mothers of children with developmental disabilities. Sociodemographic characteristics were recorded. Musculoskeletal pain distribution was assessed using the Nordic Musculoskeletal Questionnaire (NMQ), and maternal pain intensity was evaluated with the Visual Analogue Scale (VAS). Cognitive function was assessed using the Montreal Cognitive Assessment (MoCA). Physical activity level, hopelessness, and sleep quality were evaluated using the International Physical Activity Questionnaire-Short Form (IPAQ-SF), Beck Hopelessness Scale (BHS), and Pittsburgh Sleep Quality Index (PSQI), respectively. RESULTS: MoCA total score was significantly correlated with maternal age (r = -0.273), maternal education duration (r = 0.513), number of children (r = -0.300), child’s age (r = -0.341), BHS total score (r = -0.581), IPAQ-SF total score (r = 0.581), and maternal pain intensity (r = -0.357) (all p < 0.05), but not with PSQI total score (r = 0.080, p > 0.05). In hierarchical regression analysis, education duration, physical activity level, hopelessness, and child’s age remained independently associated with maternal cognitive function in the final model (R² = 0.623, p < 0.001). CONCLUSION: Longer maternal education duration, higher physical activity levels, lower hopelessness, and younger child age were associated with better cognitive function among mothers of children with developmental disabilities. These findings highlight potentially modifiable factors related to maternal cognitive health in this population.

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14. Kumari AP, Karati S, Das S, Khandelwal S, Patel M, Kumar A. Itraconazole and Lacosamide Combination Therapy Rescues CGG Repeat Expansion Induced Neurotoxicity in Fragile X-Associated Tremor/Ataxia Syndrome. ACS Chem Neurosci. 2026.

Carriers of the fragile X messenger ribonucleoprotein 1 (FMR1) gene have an elevated risk of developing Fragile X-associated tremor/ataxia syndrome (FXTAS), a progressive late-onset neurodegenerative disorder. Expansion of CGG trinucleotide repeats within the 5′ untranslated region leads to RNA-mediated toxicity and promotes the aggregation of toxic FMR1polyglycine (FMR1polyG), driving neuronal dysfunction and degeneration. Yet, effective therapies that alter disease progression remain lacking. In this study, we evaluated a drug repurposing strategy to modulate FXTAS pathogenesis by targeting CGG repeat RNA structures using Itraconazole (ITZ), a clinically approved antifungal, in combination with Lacosamide (LCM), an established antiepileptic drug. The ITZ+LCM combination significantly reduced FMR1polyG aggregation and attenuated oxidative stress and cell death in an in vivoDrosophila model of FXTAS. Notably, this combination also improved locomotor performance and extended the lifespan of model flies, with a fourfold reduction in the effective ITZ dose. These findings were further validated at the cellular level using (CGG)99 transfected HEK293T and COS-7 cells, wherein the ITZ+LCM treatment suppressed FMR1polyG aggregation and corrected CGG repeat splicing defects. Biophysical studies revealed the selective interaction of the drug combination with CGG-expanded RNA. These findings identify the ITZ+LCM combination as a promising, clinically translatable therapeutic strategy against FXTAS to counter RNA-mediated neurotoxicity.

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15. Liang L, Looi MK. Trump: « Split vaccines into five doses to reduce autism »-the US president’s latest unevidenced claim. Bmj. 2026; 394: e100934.

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16. Mai X, Du Q, Wang J, Zhou J, Song S, Peng Z, You M, Zhou H. Maternal arsenic exposure induces autism-like behaviors via astrocyte-mediated neuronal apoptosis: Protective effects of Taurine. Ecotoxicol Environ Saf. 2026; 324: 120828.

Autism spectrum disorder (ASD) is associated with reduced serum taurine (TA) levels in children with ASD. However, the protective effects of TA against As-associated neurodevelopmental injury remain unclear. Here, we investigated whether TA ameliorates maternal As exposure-associated ASD-like behaviors and explored the underlying mechanisms. Pregnant Sprague-Dawley rats received As₂O₃ and TA through drinking water during gestation. Offspring behaviors and prefrontal cortical changes were assessed using behavioral, histological, ultrastructural, biochemical, and cell-based assays. Maternal As exposure impaired social preference and social novelty preference and increased repetitive, stereotyped, and anxiety-like behaviors, whereas TA treatment ameliorated these abnormalities. In the prefrontal cortex, As exposure increased synaptic cleft width by 39.80%, reduced postsynaptic density thickness by 17.28%, and increased Cleaved Caspase-3 expression to 3.38-fold that of the CTL group. The density of TUNEL⁺/NeuN⁺ cells increased from 38.10 to 213.34 cells/mm², whereas TA treatment reduced it to 42.45 and 40.27 cells/mm², respectively. TA also attenuated astrocyte hyperactivation and A1-like phenotypic alteration, restored the NGF/TrkA pathway, and reduced astrocyte-mediated neuronal apoptosis in vitro. TrkA inhibition weakened the anti-apoptotic effect of TA. These findings suggest that TA may alleviate As-associated neurodevelopmental injury by modulating astrocyte reactivity and promoting neuronal survival.

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17. Peter JA, Weiser TA, Niswander LA, Batey RT, Wuttke DS. MeCP2 MBD-ID module: a unified DNA/RNA binding interface disrupted in Rett syndrome. Nucleic Acids Res. 2026; 54(18).

Rett syndrome neurodevelopmental disorder is caused by mutations in the epigenetic regulator MeCP2. While the MeCP2 methyl-CpG binding domain (MBD) is well-characterized, the function of the adjacent intervening domain (ID) remains largely understudied. The ID has been described as a distinct RNA-binding region, yet evidence also suggests RNA competitively displaces MeCP2 from DNA. Here, we address these conflicting findings by demonstrating the MBD and ID do not function in isolation but as a synergistic functional unit. The ID significantly enhances affinity of the MBD for methylated DNA by ∼35-fold. Moreover, these two subdomains form a high-affinity RNA-binding module, with preference for structured RNAs increased over 1000-fold compared to the MBD or ID alone. We find binding to RNA precludes binding to DNA, such that the integrated MBD-ID unit explains the competition phenomenon. Analysis of Rett syndrome-associated ID mutations (R167W, K174Q, and R190H) and a therapeutic MiniGene reveals they do not disrupt methyl-DNA binding but instead selectively weaken RNA and non-methylated DNA binding, thereby disrupting the competitive balance between nucleic acids. Our work establishes the MBD-ID module as MeCP2’s central nucleic acid interaction hub, whose disruption provides a potential molecular etiology of Rett syndrome due to mutations in the ID.

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18. Stagg SD, Sobiechowski A. The antecedents, challenges and benefits of an autism self-diagnosis. J Ment Health. 2026: 1-12.

BACKGROUND: An increasing number of adults are self-diagnosing with autism spectrum disorder. While this may be a first step to obtaining a formal diagnosis, little is known about the motivations behind self-diagnosis or whether individuals pursue a formal diagnosis. AIMS: The study sought to determine why individuals come to regard themselves as autistic, their experiences of seeking a diagnosis and whether self-diagnosis has benefits. METHODS: This study collected data from 130 self-diagnosed adults who had not yet obtained a formal diagnosis. Questionnaire responses and free-text comments were analysed using qualitative content analysis. RESULTS: Initial motivation for self-diagnosis stemmed from encouragement from friends, family or identifying with traits exhibited by autistic celebrities. Most participants desired a formal diagnosis, but lengthy waiting lists and perceived inadequacies in healthcare were significant deterrents. Participants reported that self-diagnosis was largely positive, facilitating occupational and educational adaptations and fostering personal compassion. Ten per cent of participants did not wish to pursue a formal diagnosis, though many who desired a diagnosis faced obstacles in securing one. CONCLUSION: The study’s findings provide insight into the process of self-diagnosis, including how individuals arrive at a self-diagnosis and whether they subsequently pursue a formal diagnosis.

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19. Viteri V, Parada MF, Santos ER, Biag HMB, Schneider A, Villarreal J, Trotter JF, Hagerman RJ. Fragile X-associated tremor/ataxia syndrome with autoimmune hepatitis requiring liver transplantation. BMJ Case Rep. 2026; 19(9).

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that develops in some carriers of the FMR1 premutation. It starts with slight tremors or unsteadiness that progresses over time and includes cognitive decline. Here, we present the case of a man in his mid-60s with 88 CGG repeats in FMR1 who was diagnosed with FXTAS in his late 50s. In his early 60s, he was diagnosed with autoimmune hepatitis (AIH), confirmed by biopsy, and his liver function declined, requiring a transplant. Recovery was complicated by a bile duct leak, but he eventually stabilised. Neurologically, his symptoms gradually worsened before the transplant; he was falling 7 times a day, showed tremor, ataxia and mild rigidity. MRI demonstrated white matter disease in the middle cerebellar peduncle and the splenium in the corpus callosum. The individual showed improvement in ataxic symptoms after the transplant and is no longer experiencing falls. Although FXTAS is primarily a neurodegenerative disorder, increasing evidence suggests that carriers of the FMR1 premutation are also at higher risk for immune-mediated conditions. However, AIH has not previously been reported in individuals with FXTAS. This suggests a potential broader association between premutation and autoimmune diseases in fragile X premutation carriers. This case highlights the importance of monitoring autoimmune complications in these patients.

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20. Zhao Y, Li Z, He S. fNIRS in autism neuroscience: From replication to discovery. Neurosci Biobehav Rev. 2026; 191: 106994.

Studying the neural basis of autism spectrum disorder (ASD) has long been hampered by a mismatch: core social features unfold during interaction, whereas standard neuroimaging commonly relies on isolated, scanner-based environments. Functional near-infrared spectroscopy (fNIRS) partly addresses this mismatch. It is portable, more tolerant of moderate movement than fMRI, and compatible with live social interaction, although it remains sensitive to optode motion and systemic physiology and is restricted primarily to superficial cortex. This narrative review examines three contributions of fNIRS to ASD neuroscience: access to developmental populations that are difficult to study with fMRI; dyadic paradigms that measure neural coordination during live interaction; and integration with behavioral, gaze, autonomic, and electrophysiological signals. We then review wearable and naturalistic systems, machine-learning-based classification, and applications across related neurodevelopmental conditions, while critically appraising small samples, task heterogeneity, and preprocessing variability. Among the 25 reports examined in detail, no classification model had been evaluated in an independent external ASD cohort. Eleven reports linked an fNIRS-derived measure to a clinical, behavioral, or developmental outcome through at least one statistically significant association. These associations were generally exploratory, cross-sectional, and not independently validated. The evidence therefore supports fNIRS as a research tool for cortical hemodynamic measurement, while specific fNIRS-derived patterns of regional activation or connectivity have yet to be validated as biomarkers. Priorities include longitudinal multi-site cohorts, physiologically informed preprocessing, population-specific motion validation, independent model testing, and direct linkage of neural measures to developmental or treatment outcomes.

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21. Zhong NH, Mazurek MO. Longitudinal Measurement Invariance of the Autism Impact Measure (AIM) in Children and Adolescents With Autism. J Autism Dev Disord. 2026.

PURPOSE: The Autism Impact Measure (AIM) is a caregiver-reported measure that assesses behavioral changes in response to treatment in children with autism. This study evaluated its longitudinal measurement invariance, which is critical for ensuring that observed score changes reflect true behavioral change rather than construct-irrelevant variance. METHODS: The sample comprised a large clinical cohort from the Autism Treatment Network (ATN) Registry (N = 597; baseline Mage = 9.7 years, SD = 3.3). Using multigroup confirmatory factor analysis and established fit criteria, we examined the longitudinal measurement invariance of the AIM scores among participants with longitudinal data (n = 371) approximately 1 year later (M = 1.17 years; SD = 0.28). RESULTS: The AIM scores demonstrated longitudinal configural, metric, and scalar measurement invariance within participants across the one-year interval for all symptom domains: Repetitive Behavior, Communication, Atypical Behavior, Social Reciprocity, and Peer Interaction. CONCLUSION: These findings provide validity evidence for the interpretation that observed changes in AIM scores across time reflect genuine differences in autism symptom presentation rather than shifts in item functioning, thereby further supporting the AIM’s use as a longitudinal symptom tracking tool in autism treatment.

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