1. Ben-Zeev B, Rossignol E, Lumsden DE, Guido-Estrada N, Bilder DA, Coenraads M, Hertz Tirosh S, Nues P, Millson S, Stevenson R, Ashkenas J, Karbocus C, McGinnis E, LaBounty Phillips K. Understanding Caregivers’ Experiences of Rett Syndrome: A Multinational Study of Symptoms and Meaningful Outcomes of Potential Treatments. Neurol Ther. 2026.

INTRODUCTION: Caregivers have first-hand experience of facing the daily challenges of Rett syndrome (RTT). The aim of this study was to understand caregivers’ experiences of RTT, including challenging symptoms that caregivers hope novel therapies will address. METHODS: This non-interventional, qualitative and quantitative market research study engaged caregivers of individuals with RTT in the USA, the UK, Canada, and Israel, through an online survey comprising both closed- and open-ended items. Survey domains included age of symptom onset, symptom severity and impact on quality of life, the most challenging symptoms, and caregiver perspectives on meaningful improvement. RESULTS: A total of 323 caregivers completed the survey. Symptoms with the most severe and lasting impact on patients’ quality of life typically presented by 6 years of age. These symptoms included loss of speech, loss of purposeful use of hands, and gait disturbances. Caregivers reported a dynamic and lifelong burden associated with impairments in activities of daily living and expressed a desire for improvement across these functional domains following gene therapy treatment. CONCLUSION: Despite RTT’s clinical heterogeneity, similarities emerged in caregivers’ daily experiences and their hopes regarding gene therapy treatment. Caregivers believe meaningful improvements for people with RTT would be improved function and enhanced autonomy related to fine and gross motor abilities, and improved ability to communicate needs.

Lien vers le texte intégral (Open Access ou abonnement)

2. Hampton S, Mandy W, Zahir R, Miller O, Carter S, Midouhas E, Flouri E, Cooper K. « It is Just Too Overwhelming and Constant »: Environmental Influences on Anxiety and Depression in Autistic Young People. J Autism Dev Disord. 2026.

PURPOSE: Autistic people experience high rates of anxiety and depression, yet an evidence-based understanding of how and why these difficulties first develop is lacking. By centring autistic young people’s accounts, this study aims to understand how interactions between autistic people and their environment throughout childhood and adolescence give rise to anxiety and depression. METHODS: Twenty autistic young people aged 10-18 and 30 parents of autistic young people aged 5-18 completed semi-structured qualitative interviews about experiences of anxiety and depression. RESULTS: Framework Analysis identified three themes. External demands and pressures: Participants described the weight of pressures to meet non-autistic standards within school, social and sensory environments. Autonomy and control: Young people struggled with environments not under their control. They benefited from a balance of structure and autonomy within home and school settings. Safety, trust and predictability: Trust and acceptance from others (such as family, peers, teachers and professionals), access to safe places (such as home and nature), and engaging in interests were important protective factors. CONCLUSION: Autistic young people can feel pressure to meet non-autistic demands, impacting mental health. Factors such as academic expectations, parenting styles, understanding of autism among family, teachers and peers, and low sensory demand spaces may be important targets for intervention.

Lien vers le texte intégral (Open Access ou abonnement)

3. Kashida N, Yamamuro K, Matsuoka K, Mizui R, Ishida R, Takeda T, Tamakoshi H, Yoshihara T, Takahashi M, Yamauchi T, Toritsuka M, Iwata N, Makinodan M. Linking auditory brain responses to cortical microstructure and sensory behaviors in autism spectrum disorder: a preliminary study. Front Psychiatry. 2026; 17: 1688324.

INTRODUCTION: Atypical auditory processing is a core characteristic of autism spectrum disorder (ASD), potentially stemming from disrupted thalamocortical circuits and frontal modulation. This study investigated whether individual differences in cortical microstructure, as measured by neurite orientation dispersion and density imaging, are associated with auditory brainstem responses (ABR) and whether these ABR measures are associated with autism traits and atypical sensory processing. METHODS: We recruited 15 adults with ASD (9 males, 6 females; mean age 26.9 ± 6.7 years) and 12 typically developing controls (12 males; mean age 37.1 ± 8.0 years) and assessed microstructural properties in the thalamus, temporal cortex, and orbitofrontal cortex (OFC). Auditory processing was evaluated via ABR recorded under forward-masking conditions. RESULTS: In this preliminary, exploratory analysis, mediation models suggested that the amplitude of wave PVII mediated the association between the orientation dispersion index in the temporal cortex and autism traits, as measured by the Autism-Spectrum Quotient. Similarly, the ΔVI amplitude (peak-to-peak potential between NVI and PVI) mediated the relationship between the neurite density index in the OFC and atypical sensory behaviors, assessed using the Adolescent/Adult Sensory Profile. In the ASD group, reduced PVII amplitude was linked to difficulties in attention switching and imagination, while increased ΔVI amplitude was associated with sensory avoidance. DISCUSSION/CONCLUSION: Our preliminary and exploratory findings tentatively suggest that microstructural variability in the temporal cortex and OFC may relate to auditory neural responses and to sensory and cognitive features of ASD. However, given the small and demographically imbalanced sample, these results should be regarded as hypothesis-generating rather than confirmatory. These candidate brain-behavior pathways should be tested in larger, demographically matched cohorts before any mechanistic interpretation regarding sensory dysfunction in autism can be drawn.

Lien vers le texte intégral (Open Access ou abonnement)

4. Megersa SW, Dehning S, Tessema SA, Jobst A. Feasibility, acceptability, and preliminary impact of the WHO-Caregiver skill training (CST) in a low-income clinical setting: a mixed-methods evaluation. BMC Health Serv Res. 2026; 26(1).

BACKGROUND: The intensive demands of caring for children with developmental disorders (DDs) result in diminished quality of life (QoL) and increased family burden, particularly in low- and middle-income countries (LMICs), such as Ethiopia, where access to specialized healthcare and caregiver support is limited. This study aimed to evaluate the feasibility, acceptability, and preliminary impact of the World Health Organization-Caregiver skill training (WHO-CST) within a clinical setting. METHODS: A convergent parallel mixed-methods study design was employed. The qualitative data included 19 caregiver interviews and three focus group discussions with 20 facilitators examining program acceptability and implementation barriers, and the data were analyzed thematically. The quantitative data included 127 caregivers who completed pre- and post-intervention assessments, which were analyzed using paired t-tests and regression models (p < .05). RESULTS: The qualitative analysis revealed four main themes: program acceptability, implementation challenges, effective strategies and recommendations. After the intervention, the caregivers exhibited better self-care and reduced their reliance on physical punishment. They also reported improvements in their children's communication skills and adaptive and challenging behaviors. Factors such as resource shortage and time constraints were identified as implementation barriers. Among those who completed the follow-up, 100% attended seven sessions or more. The quantitative analysis showed significant improvements in the psychological (Mdiff =3.01, t (126) =2.37, p = .019) and environmental (Mdiff =4.97, t (126) =4.19, p< .001) domains. However, the improvement in the overall quality of life (QoL) (Mdiff =1.74, t (126) =1.96, p= .052) and the reduction in the overall burden score (Mdiff = -.86, t (126) = -1.09, p= .277) were marginal and did not reach statistical significance. CONCLUSION: The WHO-CST is a feasible and acceptable intervention in Ethiopian clinical setting. It is associated with potential improvements in parenting style, self-care, and selected QoL domains among caregivers. By utilizing psychiatry residents as facilitators, the study implemented a service integration and capacity-building model to address gaps in a resource-limited setting. The findings may inform future implementation strategies and policy development in similar low-resource settings. Future evaluations should explore the cost-effectiveness and institutional support required to maintain the WHO-CST as standard care. CLINICAL TRIAL NUMBER: Not applicable.

Lien vers le texte intégral (Open Access ou abonnement)

5. Revathy J, M K, Yogarayan S, Balusamy B. NeuroCon-AutismNet: a privacy-preserving multimodal framework toward autism screening via diffusion-regularized EEG biomarkers and empathy-aware multilingual dialogue. Front Psychiatry. 2026; 17: 1803720.

INTRODUCTION: Autism Spectrum Disorder (ASD) screening requires multimodal biomarkers to capture the heterogeneous neurological and behavioral phenotypes. Current screening approaches remain siloed across EEG analysis and conversational assessment, limiting integrated diagnostic architecture. Privacy-preserving machine learning frameworks for mental health screening are underdeveloped, particularly for multilingual deployment contexts. This paper presents NeuroCon-AutismNet, a candidate multimodal architecture integrating diffusion-regularized EEG synthesis, multilingual conversational screening, and formal differential privacy as architectural proof-of-concept. No diagnostic discrimination capability is claimed; all validation is scoped to synthetic evaluation. METHODS: NeuroCon-AutismNet comprises four modules: (1) Temporal Diffusion Biomarker Generator (TDBG), a latent diffusion model over VAE-encoded 19-channel EEG; (2) Multilingual Affective Dialogue Screening Network (MADSN), a fine-tuned GPT-2-small module deployed in English, Spanish, and Hindi; (3) Neuro-Linguistic Fusion Transformer (NLFT), enforcing positional alignment as a design prior rather than learned cross-modal association; and (4) Adaptive Mixture-of-Experts Layer (AMEL-X) for entropy-regularized multimodal fusion. Formal (ε, δ)-differential privacy (ε = 1.0, δ = 1e-5) is verified via DP-SGD RDP composition (σ = 1.2, q = 0.0914, T = 550 steps, verified ε = 0.97). Privacy verification establishes architectural readiness for future real-data deployment; no real patient records are present in the training set. RESULTS AND DISCUSSION: Within closed synthetic evaluation, held-out diagnostic AUC is 0.503 (95% CI: 0.487-0.519, DeLong p = 0.67), statistically indistinguishable from chance and the central limitation of this study. Two partial external benchmarks are provided. Spectral comparison against three independently published real ASD EEG studies yields Pearson r = 0.87 across five frequency bands; delta and alpha directions are reproduced, but theta and gamma reproduce poorly with large amplitude errors (delta MAE 14.79%, alpha MAE 11.57%). Expert evaluation of MADSN outputs by 50 annotators under single-blind protocol yields 90% empathy satisfaction and Cohen’s κ = 0.82, reflecting text quality rather than clinical screening validity. The null diagnostic AUC and synthetic-only evaluation prevent any current screening or clinical-utility claims. Real-data EEG validation, clinician-caregiver interaction studies for MADSN, and DP-protected training on real patient records are prerequisites for future clinical deployment.

Lien vers le texte intégral (Open Access ou abonnement)

6. Sabbah S, Namoura SM, Yacoub H, Yacoub Z, Yacoub R. Sensory feeding problems, pica-related behaviors, and sleep habits among children with autism spectrum disorder in palestine: a parent-reported cross-sectional study. Front Pediatr. 2026; 14: 1899150.

BACKGROUND: Autism Spectrum Disorder (ASD) is commonly associated with feeding difficulties and sleep disturbances, yet their co-occurrence remains understudied in Arab and Palestinian contexts. Pica and broader pica-related sensory feeding behaviors are among the most clinically significant feeding problems in children with ASD, carrying serious health risks. This study examined the level of parent-reported sensory feeding problems, pica-related behaviors, and sleep habit disturbances in children with ASD attending care centers in the West Bank, Palestine, and explored their association. METHODS: A cross-sectional descriptive-correlational survey was conducted. A convenience sample of 105 parents of children with ASD was recruited from care centers in the West Bank during August 2025. Two instruments were used: a 20-item literature-informed Sensory Feeding/Pica-Related Behaviors Scale developed for this study, and a 21-item Sleep Habits Scale adapted from the Arabic scale developed and validated by Al-Merdasi. The feeding scale underwent expert content review and pilot testing, while internal consistency was assessed for both instruments in the present sample. The feeding scale was designed to describe caregiver-reported sensory feeding difficulties and pica-related behaviors rather than to establish a DSM-5-TR or ICD-11 diagnosis of pica. All sleep items were coded so that higher scores indicated greater sleep disturbance; sleep adequacy items were reverse-scored. Data were analyzed using descriptive statistics, independent-samples t-tests, one-way ANOVA with LSD post-hoc tests, and Pearson correlation in SPSS. Effect sizes were reported as Cohen’s d for t-tests and partial η² for ANOVA. RESULTS: Sensory feeding problems and Pica-related behaviors scores were at a moderate level overall (M = 1.946, SD = 0.307; relative weight 64.9%). Sleep habit disturbances were also moderate (M = 3.123, SD = 0.551; 62.5%), with sleep anxiety ranking highest (M = 3.507). No significant differences in Sensory feeding and pica-related behavior scores were found by any demographic variable. For sleep habits, significant differences were found by child age (F = 10.038, p = 0.001, η² = 0.164), with younger children appearing to score higher, though the oldest age group was small (n = 7) and the finding should be interpreted cautiously. Significant differences were also found by child sex (t = 2.195, p = 0.030, d = 0.43), with higher sleep disturbance scores among females. A significant positive moderate correlation was found between pica-related problem scores and sleep disturbance scores (r = 0.463, p < 0.001). CONCLUSIONS: This parent-reported cross-sectional study found moderate levels of sensory feeding problems, pica-related behaviors, and sleep disturbances among children with ASD in the West Bank, Palestine, and a significant positive association between them. Because the study used convenience sampling and researcher-developed instruments with preliminary validation only, findings should be interpreted as preliminary and should not be taken as estimates of clinically diagnosed pica or sleep disturbances. They highlight the importance of integrating screening for pica-like behaviors and sleep problems within ASD services, and support the need for future longitudinal studies incorporating clinical diagnosis, gastrointestinal assessment, nutritional biomarkers, and validated measures.

Lien vers le texte intégral (Open Access ou abonnement)

7. Shabani S, Shahrani M, Mosayebian AA, Anjomshoa M, Bijad E, Asadi-Farsani E, Amini-Khoei H, Moradi-Vastegani S. The Protective Effects of Chlorogenic Acid in Mitigating Gut-Brain Barrier Dysfunction and Autism-Like Symptoms Caused by Early-Life Stress in Mice: A Behavioral, Histopathological, and Molecular Study. Mol Neurobiol. 2026; 63(1).

Autism spectrum disorder (ASD) is a multifactorial neurodevelopmental condition shaped by both genetic predispositions and environmental influences. Early-life stresses (ELS), notably maternal separation (MS), can lead to behavioral impairments similar to core ASD features. Recent research indicates that disruptions in the gut-brain axis may significantly contribute to the neuropsychiatric effects of ELS. This study investigates the role of chlorogenic acid (CGA), a plant-derived polyphenol, in a mouse model of MS-induced ASD-like behaviors. Mice subjected to MS were treated with CGA via intraperitoneal injection over 2 weeks. Behavioral assessments included the open field, passive avoidance, elevated plus maze, marble burying, and three-chamber social interaction tasks. Histologic changes were assessed using H&E staining. Alterations in antioxidant capacity and gene expression were assessed in hippocampal and colonic samples using the FRAP method and qRT-PCR, respectively. CGA administration led to marked improvements in behavioral functions, such as enhanced memory, increased social engagement, and reductions in repetitive, depression, and anxiety-like behaviors. At the molecular level, CGA treatment was associated with lower hippocampal oxidative stress, elevated antioxidant capacity, decreased levels of hippocampal inflammatory markers, alongside beneficial histological changes in hippocampus and colon samples. Furthermore, CGA modulated the expression of tight junction proteins like Claudins (CLDN1, CLDN5, and CLDN12) in the colon and hippocampus, suggesting a protective effect on gut and brain barrier integrity. In summary, MS disrupts the neuro-immune balance and behavior by affecting the gut-brain axis. CGA shows promise in restoring these systems, highlighting its potential as a complementary intervention for conditions related to ASD.

Lien vers le texte intégral (Open Access ou abonnement)

8. Turabee ZB, Brown DJ, Mahmud M, Oikonomou A, Rahman MA, Burton A, Shopland N, Clarke D, Gray F. ASC-emotion: A privacy-aware dataset for analysing emotional dysregulation and engagement in children with Autism(). MethodsX. 2026; 17: 104073.

Predicting emotional dysregulation events in children with Autism is essential for timely mitigation of triggering events and prevention of further escalation of the situation. However, there is a scarcity of accessible and standarised datasets for use in AI-based research associated with challenging behaviours in children with ASC. To address this gap, we have curated a novel privacy-preserved dataset as part of an Erasmus+ funded project (AI-TOP-2020-1-UK01-KA201-079,167). The dataset was validated using three machine learning architectures which gave an accuracy of 96% in detecting the affective states related to learning in children with Autism. The key contributions of this study are: 1. Development of an Autism meltdown dataset exemplifies methodological rigor, advances an urgent clinical challenge through early detection and intervention, and enables broad impact by promoting reproducibility, benchmarking and translational health outcomes. 2. Implementation of privacy preserving measures addresses ethical concerns regarding the use of video data with this vulnerable population as part of the machine learning pipeline. 3. High levels of accuracy are demonstrated via empirical validation of the dataset through three machine learning models (BiLSTM, Graphical Neural Network – EdgeConv, PointCNN+LSTM) for detecting affective states related to learning and physiological arousal in children with Autism.

Lien vers le texte intégral (Open Access ou abonnement)

9. Yan J, Kuang C, Liang X, Sun X, Chen F. Prosodic marking of contrastive focus in Mandarin-speaking children with autism spectrum disorder. Front Psychol. 2026; 17: 1898035.

INTRODUCTION: Prosodic focus marking plays a central role in conveying information structure, yet little is known about how Mandarin-speaking children with autism spectrum disorder (ASD) use acoustic cues to signal contrastive focus in a tonal language. METHODS: Prosodic focus marking plays a central role in conveying information structure, yet little is known about how Mandarin-speaking children with autism spectrum disorder (ASD) use acoustic cues to signal contrastive focus in a tonal language. This study examined pitch, duration, and intensity in sentence-initial and sentence-final focus produced by 20 Mandarin-speaking children with ASD and 20 age- and sex-matched typically developing (TD) peers. Using picture-based prompts, children produced simple subject-verb-object sentences, and acoustic measures of focus words (sentence-initial subject and sentence-final object) and post-focus verbs were analyzed with linear mixed-effects models. RESULTS: Children with ASD showed significantly higher pitch than TD children in sentence-final focus, with no group difference in sentence-initial focus. Duration ratio was significantly reduced only with high-tone verbs. Intensity ratio was lower in sentence-initial focus, but higher in sentence-final focus with high-tone verbs. In the post-focus region, children with ASD exhibited higher pitch than TD children for both high- and low-tone verbs, but showed larger duration ratio and lower intensity ratio only for low-tone verbs. DISCUSSION: These findings suggest that children with ASD are not globally impaired in focus marking, but show patterns that vary with focus position and tonal context.

Lien vers le texte intégral (Open Access ou abonnement)

10. Yu B, He XN, Zhang XH, Lei G, Song XY, Wu JL, Li DX, Cheng SN, Zhang Y, Lv JM. Prefrontal activation and connectivity during verbal fluency in autism Spectrum disorder: an fNIRS study. Front Hum Neurosci. 2026; 20: 1810519.

OBJECTIVE: The neural mechanisms behind varying cognitive ability in children with Autism Spectrum Disorder (ASD) remain unclear. This study compared cortical activation and brain connectivity across ASD subgroups stratified by Full-Scale Intelligence Quotient (FSIQ). METHODS: Sixty-four children with ASD were divided into two groups based on their FSIQ scores: Group 1 (n = 30, FSIQ ≥ 70) and Group 2 (n = 34, FSIQ < 70). Using a 19-channel functional near-infrared spectroscopy (fNIRS) system, we assessed cortical activation and functional connectivity in both groups during a Verbal Fluency Task (VFT) by monitoring changes in oxyhemoglobin (Oxy-Hb) concentration. Inter-group differences in brain activation and connectivity were compared, and correlations between cortical activation levels and clinical indices (FSIQ, verbal production) were examined. RESULTS: Compared to Group 2, Group 1 showed significantly stronger cortical activation in channels 1 and 2 [corresponding to the inferior frontal gyrus (IFG)] (U = 212.000, Z = -4.009, FDR-corrected p < 0.001; U = 160.000, Z = -4.709, FDR-corrected p < 0.001). Global functional connectivity was also greater in Group 1 (mean = 0.586, SD = 0.521) relative to Group 2 (mean = 0.413, SD = 0.521) (permutation statistic = 4.82, FDR-corrected p < 0.001). Moreover, Oxy-Hb changes in channels 1 (r(s)  = 0.304, p < 0.05), 2 (r(s)  = 0.405, p < 0.01), and 10 (r(s)  = 0.253, p < 0.05) were positively correlated with FSIQ scores. Activation in channels 1 (r(s)  = 0.529, p < 0.001), 2 (r(s)  = 0.569, p < 0.001) and 10 (r(s)  = 0.290, p < 0.05) were also significantly correlated with verbal production. CONCLUSION: Our findings provide neurofunctional evidence for the association between cognitive resource capacity and verbal-executive processing in ASD. ASD children with lower FSIQ exhibited lower prefrontal activation and lower functional connectivity during the VFT, particularly within the IFG, frontopolar cortex (FPC), and dorsolateral prefrontal cortex (DLPFC). These results underscore the utility of fNIRS in delineating distinct neurocognitive profiles within ASD and highlight the IFG as a key region where neural activity correlates with both cognitive ability and language output, offering a potential target for mechanism-based intervention strategies.

Lien vers le texte intégral (Open Access ou abonnement)