1. Abdel-Ghafar SF, Ahmed AE, Mohammed ET, Abdel-Salam GMH, Abdel-Hamid MS, Zaki MS. EPG5-Related Disorders in Seven New Patients: Refining the Phenotypic Spectrum and Insights on Phenotype-Genotype Correlations. J Mol Neurosci. 2025; 75(4): 147.

Pathogenic variants in EPG5 have been associated with Vici syndrome (OMIM #242840) characterized by agenesis of the corpus callosum (ACC), cataracts, cardiomyopathy, hypopigmentation, and immunodeficiency as hallmark features. Additional variable features include microcephaly, hypotonia, developmental delay, and growth retardation. Recently, few reports described milder cases with a neurodevelopmental phenotype and less systemic involvement harboring EPG5 variants suggesting a broader clinical spectrum. Herein, we describe seven patients from six unrelated Egyptian families in whom exome sequencing identified six homozygous (five novel and one previously reported) EPG5 variants. Patients presented with global developmental delay, microcephaly, hypotonia, dystonia, and failure to thrive. Seizures were evident in two patients and showed a variable response to antiepileptic drugs. Fair color of hair and skin was noted in four out of seven patients (57%), while cataracts and cardiomyopathy were observed in one patient each (14%). In addition to ACC, cerebellar and pontine hypoplasia, delayed myelination, and ventricular dilatation were evident in all patients. Interestingly, deep fissure in the frontal lobes, extending from the frontal horn to the frontal pole, was documented in six patients and appears to represent a characteristic feature associated with EPG5 variants. Our study highlights the phenotypic variability associated with EPG5 variants and emphasizes the presence of a phenotypic spectrum ranging from the classic severe Vici syndrome to a neurodevelopmental disorder with less systemic manifestations and a longer survival rate.

Lien vers le texte intégral (Open Access ou abonnement)

2. Ali D, Bougoure M, Cooper B, Quinton AMG, Tan D, Brett J, Mandy W, Maybery M, Magiati I, Happé F. Burnout as experienced by autistic people: A systematic review. Clin Psychol Rev. 2025; 122: 102669.

‘Autistic burnout’ is described as a debilitating state of exhaustion experienced by autistic people due to living in a world that often lacks accommodations and understanding of their needs. This systematic review thematically synthesised research on how autistic people understand and experience burnout. We reviewed 48 studies (30 qualitative, seven quantitative, and 11 mixed methods), which included approximately 4000 autistic people, predominantly featuring White, female, late-diagnosed autistic adults with at least average intellectual and/or verbal abilities. Our findings suggest that burnout, as experienced by these autistic people, consisted of debilitating exhaustion and increased disability, which could be chronic with intermittent crises. Sensory and social overwhelm, camouflaging, ignorance and stigma, everyday life challenges, and alexithymia contributed to burnout. Burnout held negative consequences for health and well-being, community involvement, and maintaining hope for the future. Having a more accurate framework for self-understanding, meeting the needs for rest, solitude, and sensory relief, and having individual and community support helped with recovery. Addressing burnout effectively will require individual coping strategies, clinical recognition, and broader societal awareness and acceptance of supporting diverse needs and ways of being. Future research should investigate burnout and its associated factors in more representative autistic samples.

Lien vers le texte intégral (Open Access ou abonnement)

3. Amraoui N, Dali-Sahi M, Salmi T, Kachekouche Y, Harek Y, Benguella-Benmansour M, Berrahoui S, Dib J, Benosman C, Dennouni-Medjati N. GPx1 rs1050450 Polymorphism Modulates Selenium Status and Glutathione Peroxidase 1 Activity in Children with Autism Spectrum Disorder: A Case-Control Study from Western Algeria. Biol Trace Elem Res. 2025.

Oxidative stress plays a central role in autism spectrum disorder (ASD). The rs1050450 (Pro198Leu) polymorphism of glutathione peroxidase 1 (GPx1), a selenium-dependent antioxidant enzyme, may modulate selenium status and enzymatic activity. This case-control study included 75 children in western Algeria (35 children with ASD, 40 controls). Plasma selenium was quantified by voltammetry, erythrocyte GPx1 activity by spectrophotometry, and rs1050450 genotyping by PCR-RFLP. Children with ASD exhibited significantly lower plasma selenium (49.13 ± 10.75 vs. 68.84 ± 9.48 µg/L; p < 0.001) and reduced GPx1 activity (86.73 ± 36.08 vs. 116.71 ± 35.83 U/g Hb; p < 0.05). Remarkably, the TT genotype was found exclusively in ASD children (40.0%; 14/35) with complete absence in controls (0/40), yielding χ(2) = 18.01 (p < 0.001). The T allele was more frequent in ASD (47.1% vs. 22.5%; p = 0.003, Fisher p = 0.002). The TT genotype correlated with the lowest GPx1 activity. Selenium-GPx1 correlations varied dramatically by genotype: negative in ASD with CC (r = - 0.555; p < 0.001) and CT (r = - 0.450; p < 0.05), positive in controls with CT (r = 0.852; p < 0.001). Parental consanguinity was more frequent in ASD (28.6% vs. 10.0%; OR = 3.60; p = 0.072). This North African cohort demonstrates hyposelenemia, reduced GPx1 activity, and exclusive TT genotype presence in ASD, suggesting converging genetic-biochemical disruptions of selenium-dependent redox homeostasis. These findings warrant validation in larger cohorts for personalized nutritional interventions.

Lien vers le texte intégral (Open Access ou abonnement)

4. Bailes AF, Donovan J, Weisshaar R, Austing E, Kreimer J, Strenk ML. Describing Physical Therapy Services Delivered to Children With Autism in the Outpatient Medical Setting. Pediatr Phys Ther. 2025.

PURPOSE: To describe physical therapy dose (frequency, intensity, time, type) delivered to individuals with autism at an outpatient pediatric medical center in 1 year. METHODS: Retrospective electronic medical record data were collected. Physical therapists document session details in a standardized flowsheet that includes child effort (intensity) on a 0 to 6 Likert scale, minutes (time) addressing 7 focus areas, and interventions (type) from 11 categories. RESULTS: Two hundred ninety-one individuals with autism received 1356 sessions (median 2, IQR: 1-6). Child effort was distributed normally. Most of the time was spent in the pre-functional, gross motor developmental, and gait focus areas. Most intervention types delivered were in the education, musculoskeletal, and neuromuscular categories. Therapists infrequently administered standardized measures to assess motor delays or provided physical activity interventions. CONCLUSIONS: The findings are relevant to educators and administrators in determining the resources needed for serving individuals with autism. Future studies examining PT services are warranted.

Lien vers le texte intégral (Open Access ou abonnement)

5. Batterjee M. Association between breastfeeding and autism spectrum condition in Saudi Arabia: a case-control study. Int Breastfeed J. 2025; 20(1): 79.

BACKGROUND: Autism spectrum condition (ASC) is a neurodevelopmental disorder characterized by persistent difficulties in social communication and repetitive behaviors. Emerging evidence suggests that early nutrition, particularly reduced breastfeeding exposure, may be associated with an increased risk of ASC. However, this evidence is limited, especially in non-Western populations. METHODS: We conducted an unmatched case-control study in Saudi Arabia to investigate the association between breastfeeding practices and ASC. Data were collected through an online questionnaire from mothers of children with and without ASC. Cases were children with a confirmed ASC diagnosis, and controls were neurotypical children without a diagnosis of ASC. Breastfeeding exposure was categorized according to the World Health Organization definitions (from highest to lowest exposure) as follows: exclusive, predominant, partial, or no breastfeeding. Logistic regression models were used to estimate odds ratios (OR) with 95% confidence intervals (CI). RESULTS: Between 1 October 2024 and 25 January 2025, a total of 283 participants (126 cases and 157 controls) were recruited. A dose-response relationship was observed, where decreased breastfeeding exposure was associated with progressively higher odds of ASC (OR for trend: 1.58; 95% CI 1.24, 2.01). In univariable analyses, using exclusive breastfeeding as the reference category, partial breastfeeding was associated with increased odds of ASC (OR: 2.49; 95% CI 1.40, 4.42). Similarly, children who were not breastfed had significantly higher chance of ASC than the reference category (OR: 3.46; 95% CI 1.47, 8.13). The strength of these associations was attenuated after multivariable adjustment but remained statistically significant (OR: 2.28; 95% CI 1.22, 4.25 for partial versus exclusive breastfeeding and OR: 2.86; 95% CI 1.12, 7.26 for no breastfeeding versus exclusive breastfeeding). CONCLUSIONS: Our findings suggest that reduced breastfeeding exposure is associated with increased odds of ASC. However, these results should be interpreted cautiously, considering the inherent limitation of case-control studies and the potential of reverse causality.

Lien vers le texte intégral (Open Access ou abonnement)

6. Chung J, Park EJ, Kim H, Lee A. Group Stepping Stones Triple P for South Korean families of children with developmental disabilities: a pilot study. BMC Res Notes. 2025; 18(1): 463.

BACKGROUND/METHODS: Children with developmental disabilities (DDs) face behavioral, emotional, and social challenges that impact family dynamics. We aimed to investigate the feasibility and effectiveness of the Group Stepping Stones Triple P (SSTP) for South Korean families of children with DDs. Eight parents participated in six online group sessions and three individual phone sessions, supported by a behavior-tracking mobile app. To measure feasibility, satisfaction with the intervention and mobile application, along with participant retention rate, were assessed. Data were collected at three time points to assess behavior problems, quality of life (QoL), parenting stress, efficacy, and parent-child relationships. Wilcoxon signed-rank test was conducted. RESULTS: Participants reported high satisfaction with the intervention and offered suggestions for enhancement. There were no significant improvements between pre- and post-intervention. However, significant improvements in children’s behavior and QoL, parenting efficacy, positive parenting skills, and parent-child relationships were observed at the one-month follow-up. Some individual score change trends were also observed over time. CONCLUSION: This study is the first to conduct Group SSTP in the South Korean context. The results suggest Group SSTP’s potential to address behavioral issues of children with DDs and improve parenting practices, supporting its broader application in healthcare settings.

Lien vers le texte intégral (Open Access ou abonnement)

7. Collins E, Al-Jaishi A, Farrow A, Amankwah N, Georgiades S, Salt M, Holmes K, Edjoc R. Household income among families with autistic children and youths in Canada: a cross-sectional matched cohort study. BMJ Open. 2025; 15(11): e096019.

OBJECTIVE: Within the Canadian context, we sought to examine the relationship between households with autistic children/youths and household income. DESIGN: We used data from the 2019 Canadian Health Survey on Children and Youth (CHSCY) to analyse households with a child/youth aged 1-17. Propensity-score matching was used to pair records for children/youths with a reported autism diagnosis to those without. We used linear regression for continuous outcomes (eg, total household income) and Poisson regression for binary outcomes (eg, low household income). All analyses were adjusted for the correlation between matched pairs. PRIMARY OUTCOME MEASURE: Total annual income of all household members. SECONDARY OUTCOME MEASURES: Low household income; single-parent or single-income status; and whether at least one parent was not working or absent from work during the past week. RESULTS: Among a total of 39 951 CHSCY records, we identified a cohort of 815 autistic children/youths. The characteristics of the matched cohort were well-balanced. Households with an autistic child/youth had a mean annual household income that was lower (mean difference: $C16 489; 95% CI $C6384 to $C27 149) compared with matched households without an autistic child/youth. Households with an autistic child/youth were also 26% more likely to be classified as having a low household income (Relative risk (RR) 1.26; 95% CI 1.17 to 1.35) and 20% more likely to rely on a single income (RR 1.20; 95% CI 1.10 to 1.33) compared with households without an autistic child/youth. CONCLUSIONS: Compared with households without an autistic child/youth, those with an autistic child/youth often face more economic challenges, including lower household income and greater risk of food insecurity. Households with an autistic child/youth are more likely to rely on a single income.

Lien vers le texte intégral (Open Access ou abonnement)

8. Di Benedetto G, Sorge G, Sarchiapone M, Di Martino L. Dietary Patterns, Not Gut Microbiome Composition, Are Associated with Behavioral Challenges in Children with Autism: An Observational Study. Nutrients. 2025; 17(21).

Background/Objectives: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition characterized by persistent social communication difficulties and restricted, repetitive behaviors, with prevalence estimates continuing to rise worldwide. The gut-brain axis has been proposed as a potential contributor to ASD, yet human studies yield inconsistent findings, partly due to confounding effects of diet and behavior. Methods: Here, we investigated the gut bacteriome and mycobiome of children with ASD (n = 17) compared with their non-ASD siblings (n = 9) and parents without ASD (n = 27), alongside detailed assessment of dietary intake (n = 79) using 7-day food diaries. Results: Multi-kingdom microbiome profiling revealed no significant differences in α- or β- diversity across ASD, sibling, and parental groups, with only minor taxonomic variation observed. Similarly, fungal community composition showed negligible group-level differences. By contrast, dietary patterns strongly differentiated ASD from non-ASD participants: children with ASD consumed higher levels of sweets and sugary foods, lower portions of vegetables, and exhibited reduced overall dietary diversity. Statistical analyses confirmed that dietary factors, rather than microbial composition, explained variation in ASD diagnosis. Conclusions: These findings suggest that selective and repetitive eating behaviors are characteristic of ASD shape dietary intake, which in turn influences gut microbial diversity. Thus, in humans, the directionality may run primarily from behavior to diet to microbiome, rather than from microbiome to behavior. Our results underscore the importance of incorporating dietary variables into microbiome research and highlight the need for targeted nutritional interventions to improve health outcomes in individuals with ASD.

Lien vers le texte intégral (Open Access ou abonnement)

9. Dolfi A, Faur D, Scălcău MR, Sorescu EM, Ciumăgeanu MD, Tudose C. Correction: Validation of the Romanian Version of Autism Spectrum Quotient (AQ) and Empathy Quotient (EQ) in the General Population. Psychiatr Q. 2025.

Lien vers le texte intégral (Open Access ou abonnement)

10. Fan X, Ko KS. Understanding dance/movement therapy: a qualitative study of Chinese parents of children with autism spectrum disorder. Front Psychol. 2025; 16: 1616329.

INTRODUCTION: This study explored the application of dance/movement therapy (DMT), a therapeutic method originating from the West, in the treatment of children with autism spectrum disorder (ASD) in China. Specifically, it examined how these children’s parents understood and perceived DMT. METHODS: A descriptive qualitative research design was employed. Five Chinese parents of children with ASD participated. Data were collected through three sources: videos of sessions, in-depth interviews, and movement interviews. Data analysis involved coding and categorization, resulting in 158 codes, 48 subcategories, and 14 categories. RESULTS: Five main themes were identified: (1) Facing the Unknown but Willing to Try, (2) Observing Embodied Communication and Emotional Growth, (3) Witnessing an Unexpected Therapeutic Relationship, (4) Seeing Therapy Extend into Daily Life, and (5) Reflecting on Parenting and Family Changes. DISCUSSION: The findings provide foundational insights into how parents of children with ASD perceive DMT in the Chinese cultural context. These results highlight the potential for implementing and promoting DMT in China based on parental perspectives.

Lien vers le texte intégral (Open Access ou abonnement)

11. Féron F, Caillol D, Fourel L, Leimkuhler S, Iranzo O, Gepner B, Guiraudie-Capraz G. An impaired glycolysis induces ATP deficiency and reduced cell respiration in stem cells of patients with autism spectrum disorders. Sci Rep. 2025; 15(1): 38353.

In two previous studies, based on human olfactory ecto-mesenchymal stem cells (OE-MSC) of 11 patients with autism spectrum disorders (ASD) and 11 healthy individuals, we demonstrated that the lower abundance of the enzyme MOCOS (MOlybdenum COfactor Sulfurase) and its associated lower expression of the long non-coding RNA, COSMOC, induces neurotransmission and synaptic defects as well as an exacerbated oxidative stress sensitivity. To move a step further, we assessed whether these defects were associated to a disturbed mitochondrial homeostasis. For that purpose, we used cellular and molecular techniques to quantitfy mitochondrial metabolism and biogenesis, ATP production and cell respiration in OE-MSCs from the 8 ASD patients of the cohort that display the most severe symptoms. We show here that OE-MSCs from ASD patients, when compared to control individuals, display (i) a reduced expression/abundance of glycolysis-associated transcripts and metabolites, (ii) an overall reduced ATP, mainly due to the impaired glycolysis, (iii) a reduced basal cell respiration and (iv) a modified mitochondrial network. These results are in accordance with some of our previously published data and may explain some of the symptoms – stress, overarousal, seizures, increased or decreased muscle tone, fatigue-observed in autism spectrum disorders.

Lien vers le texte intégral (Open Access ou abonnement)

12. Fucà E, Passarini S, Guerrera S, Dentale F, Costanzo F, Parisi M, Casula L, Pirchio S, Menghini D, Valeri G, Vicari S. Sleep Mediates the Association Between Emotion Dysregulation and Repetitive Behaviors in Autistic Children. J Autism Dev Disord. 2025.

PURPOSE: Emotion dysregulation (ED) is recognized as a transdiagnostic risk factor for psychopathology, influencing both autistic and non-autistic populations. Among autistic children, ED has been linked to the occurrence of restricted and repetitive behaviors (RRBs), a core feature of autism spectrum disorder. However, the mechanisms underlying this relationship remain poorly understood. Given that sleep problems are common in autistic children and play a critical role in shaping emotional and behavioral functioning, this study investigates whether sleep difficulties mediate the link between ED and RRBs, offering new insights into their interconnected dynamics in ASD. METHODS: The study included 90 autistic children aged 6-12 years (71 males and 19 females). A mediation model was tested, examining ED as the predictor, sleep disturbances as the mediator, and children’s RRBs-total RRBs, low-order RRBs, and high-order RRBs-as criteria. RESULTS: The results revealed a significant indirect effect of ED on children’s RRBs via sleep disturbances. Specifically, we identified the role of sleep as a mediator for the relationship between ED and low-order RRBs. CONCLUSION: Our finding indicates that difficulties in emotion regulation may amplify sleep disturbances, thus triggering or intensifying RRBs, especially those related with repetitive physical movements, such as motor stereotypes and self-harming repetitive actions. The mediation effect of sleep highlights its potential as a target for interventions to reduce both ED and RRBs in autistic children. Improving sleep quality could address emotional and behavioral symptoms simultaneously, underscoring the need for integrated therapeutic approaches that prioritize sleep in comprehensive autism care.

Lien vers le texte intégral (Open Access ou abonnement)

13. Gigliotti F, Martelli ME, Foglietta S, Balestrini A, Sogos C. Exploring the Association Between Medically Assisted Reproduction and Autism Spectrum Disorder: Clinical Correlations from a Retrospective Cohort. Pediatr Rep. 2025; 17(6).

Background/Objectives: Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by impairments in social interaction and communication, as well as by repetitive behaviors, with a rising global prevalence. Concurrently, the use of Assisted Reproductive Technologies (ART) has increased among couples experiencing infertility. This study aimed to compare the frequency of ART-conceived children between those diagnosed with ASD and those with other neurodevelopmental disorders (nASD), and to examine differences in prenatal, perinatal and medical histories of ART- and spontaneously (non-ART)-conceived children within an ASD group. Methods: We retrospectively analyzed data from 507 children with a neurodevelopmental disorders (NDDs) diagnosis, classified into ASD (n = 234) and nASD (n = 273) groups. Subsequent analyses focused on the ASD group, further divided into an ART and non-ART group according to the conception mode. Results: ART-conceived children were more frequent in the ASD group than in the nASD group. Moreover, within ASD, ART was significantly associated with potential risk factors such as twin pregnancy, cesarean delivery, low birth weight and parental age. Logistic Binary Regression confirmed these results, suggesting that ART co-occurs with a cluster of perinatal and familial risk factors. Conclusions: Our results indicate that ART is not an independent causal exposure; however, given the retrospective design and the absence of a general population control group, causal inference cannot be drawn. The observed association with ASD appears to be mediated by perinatal and parental variables. These findings underscore the importance of improving obstetric management and care, and ensuring early developmental monitoring for ART-conceived children.

Lien vers le texte intégral (Open Access ou abonnement)

14. Gordon M, Aounallah A, Russell A. Lighting the way: the LANTERN system for children’s autism referrals to enhance triage effectiveness and navigate frontline timely support. BMJ Paediatr Open. 2025; 9(1).

OBJECTIVES: To evaluate the implementation and outcomes of the Layered Assessment of Neurodevelopmental Needs, Evaluation of Referrals and Navigation of support (LANTERN) triage system developed to improve referral quality, reduce unnecessary delays and enhance support for children referred for autism diagnostic assessment. DESIGN: Service improvement informed by action-based methodology and clinical audit, employing descriptive analysis of administrative and outcome data. SETTING: A UK National Health Service community paediatric service covering 59 000 children aged 4-16. PARTICIPANTS: All referrals to the neurodevelopmental pathway for autism assessment from April 2019 to March 2025. INTERVENTION: The LANTERN system incorporates senior diagnostician-led triage, expanded evidence review and detailed guidance for families and referrers. MAIN OUTCOME MEASURES: Referral volume and acceptance rates, rates per 1000 population, patient experience via friends and family test and cost-effectiveness. RESULTS: Referral rates fell 25% over 5 years, and acceptance rates dropped from 79.6% (2019-2020) to 61% (2024-2025), compared with 92% in the wider region. LANTERN achieved a local referral rate of 4 per 1000 versus 33 system-wide. ‘Good’ or ‘very good’ family satisfaction rose from 35% to 95%. The system incurred an annual cost of £58 695 but avoided £96 025 in assessments not indicated, yielding a net saving of ~£37 330. CONCLUSIONS: The LANTERN system reduced assessments not indicated while improving family satisfaction and support for children, families and referrers. A senior-led, evidence-informed triage can enhance quality and efficiency in the autism diagnostic pathway.

Lien vers le texte intégral (Open Access ou abonnement)

15. Han Y, Mao C, Zhou K, Liang M, Zhao L, Hong Y, Zhang J, Hu N, Wu F. Fragile X mental retardation 1 gene FMR1 promotes proliferation, migration, and invasion of gastric cancer cells via c-MYC. J Transl Med. 2025; 23(1): 1210.

BACKGROUND: Gastric cancer is a highly aggressive malignancy with poor prognosis and low survival rates. The Fragile X Mental Retardation 1 (FMR1) gene has been implicated in the development and progression of various tumors, but its role in gastric cancer remains unclear. METHODS: We performed pan-cancer expression analysis of FMR1 using the TIMER2.0 platform, and evaluated its differential expression in gastric cancer versus normal gastric tissues in the TCGA cohort. FMR1 expression was validated by qRT-PCR, Western blotting, and immunohistochemistry. Using R software and clinical samples to evaluate the association between FMR1 expression levels and clinicopathological factors in gastric cancer patients, and to analyze patient survival curves. The relationship between FMR1 expression and tumor immune infiltration was analyzed via the TISIDB database, and after co-culture, cytokine secretion by CD4⁺ T cells was assessed using ELISA following FMR1 knockdown in tumor cells. Functional enrichment analyses of FMR1 and its interacting genes were performed. Single-cell transcriptomics was used to extend the interpretation of intratumoral lineages and states. Malignant epithelial populations were identified using inferCNV, and these cells were subsequently stratified by FMR1 expression for GSVA. We measured FMR1 expression in control and FMR1 knockdown gastric cancer cells, performed proliferation, migration, and invasion assays to investigate the biological effects of FMR1 in gastric cancer. Mechanistic insights were further explored through co-immunoprecipitation, cycloheximide chase, proteasome inhibition, and rescue assays. RESULTS: FMR1 was significantly overexpressed in gastric cancer tissues compared to normal gastric mucosa, with high expression levels associated with poor prognosis. The differential expression of FMR1 in gastric cancer was strongly associated with the activity of multiple immune cell types within the tumor microenvironment. Functional assays further demonstrated that FMR1 knockdown suppressed cytokine secretion by CD4⁺ T cells. The expression level of FMR1 in malignant epithelial cells is higher than that in the non-malignant group, and the high-expression group of FMR1 in malignant cells shows a consistent increase in the Hallmark gene sets directly related to stem cell like phenotype, chemotherapy resistance, and immune evasion. Knockdown of FMR1 suppressed gastric cancer cell proliferation, migration, and invasion, while mechanistic studies indicated that FMR1 positively regulates c-MYC expression to drive these phenotypes. And we found that FMR1 interacted with c-MYC at the protein level and stabilized c-MYC by suppressing its proteasomal degradation. CONCLUSION: Our findings demonstrate that FMR1 promotes gastric cancer cell proliferation, migration, and invasion through c-MYC signaling, suggesting that FMR1 may serve as a potential prognostic biomarker and therapeutic target for gastric cancer.

Lien vers le texte intégral (Open Access ou abonnement)

16. He J, Lin Z, Lin X, Wang C, Cao M, Xia R, Hong W. Targeted fecal microbiota transplantation ameliorates autism-like behaviors via gut-brain axis and excitatory/inhibitory balance restoration in a propionic acid mouse model. Brain Behav Immun. 2025; 131: 106162.

Autism spectrum disorder (ASD) is characterized by social interaction deficits, repetitive behaviors, and restricted interests. Emerging evidence suggests a role for the gut microbiota in ASD pathophysiology, with fecal microbiota transplantation (FMT) emerging as a potential therapeutic strategy. This study investigated the effects of targeted FMT using processed fecal suspensions from rigorously screened healthy human donors, selected by 16S rRNA sequencing for high Lactobacillus abundance, on a propionic acid (PPA)-induced ASD mouse model. PPA-exposed mice exhibited ASD-like behaviors, including anxiety, repetitive grooming, and social interaction deficits, along with alterations in gut microbiota composition, SCFA levels, and neurotransmitter profiles. Donor selection based on 16S rRNA gene sequencing revealed that FMT from donors with high Lactobacillus abundance was more effective in improving social interaction deficits compared to donors with lower Lactobacillus levels. Targeted FMT intervention restored gut microbiota diversity and enriched beneficial taxa, such as Lactobacillus, Roseburia, and Blautia. Furthermore, targeted FMT reduced PPA levels in both feces and the prefrontal cortex (PFC), and normalized the Glu/GABA ratio in the PFC, suggesting a restoration of E/I balance. Electrophysiological recordings confirmed that FMT corrected the E/I imbalance in PFC pyramidal neurons by reducing sEPSC frequency and increasing sIPSC frequency. These findings demonstrate that FMT can ameliorate ASD-like behaviors in a PPA-induced mouse model by modulating gut microbiota and restoring E/I balance in the brain. Our study provides foundational evidence for the potential of targeted FMT as a therapeutic strategy for ASD, highlighting the importance of donor selection based on gut microbiota composition.

Lien vers le texte intégral (Open Access ou abonnement)

17. Hosseinzadeh N, Mahalleh M, KamaliZonouzi S, Alikarami S, Gouravani M, Arevalo JF. Optical coherence tomography measurements of retina and choroid in autism spectrum disorder: a systematic review and meta-analysis. Ophthalmic Res. 2025: 1-25.

INTRODUCTION: The purpose of this systematic review and meta-analysis is to compare optical coherence tomography (OCT) retinal measurements between patients with autism spectrum disorder (ASD) and the neurotypical controls, exploring the potential of OCT as a non-invasive biomarker for ASD-related neurodevelopmental alterations. METHODS: PubMed, Embase, and Scopus databases were explored to determine eligible articles reporting OCT measurements of retina and choroid in patients with ASD compared to healthy controls. Statistical analysis of OCT metrics was performed if reported in at least three discrete studies. In the process, fixed and random effects models were utilized, depending on the heterogeneity level between studies. Subgroup analysis based on the age group of cases, the method of eye selection, age and sex matching of cases and controls, and the OCT device used was also conducted. RESULTS: Ten studies with 373 ASD cases (with a total of 640 eyes) and 443 controls (with a total of 760 eyes) were included in this study. No significant alteration was observed in the average total macular layer, macular inner nuclear layer (INL), macular inner plexiform layer (IPL), macular ganglion cell layer (GCL), and macular retinal nerve fiber layer (RNFL) thickness. There was also no significant difference in the peripapillary retinal nerve fiber layer (pRNFL) thickness of the eyes of cases with ASD compared to healthy controls, except for the inferonasal portion of the pRNFL, which was significantly thicker in ASD subjects when compared to controls (p = 0.02). CONCLUSION: The findings of the present meta-analysis indicate a localized thickening of the inferonasal pRNFL with no alteration of other portions of pRNFL and macular layers (IPL, INL, GCL, RNFL). Although OCT may reflect subtle neurodevelopmental differences in ASD, current evidence is limited by small sample sizes, methodological heterogeneity, and potential confounders.

Lien vers le texte intégral (Open Access ou abonnement)

18. Jiang W, Liu F. Bright Lights, Silent Signals: Colour-Specific Attention-Arousal Decoupling in Autistic Children Revealed by Eye-Tracking and Pupillometry. J Autism Dev Disord. 2025.

PURPOSE: Atypical visual exploration is widely reported in autism spectrum disorder (ASD), yet little is known about how chromatic properties modulate oculomotor behaviour. This study aims to address this problem. METHODS: We recorded eye movements from 34 children with ASD (6-16 y) and 40 age-matched typically developing (TD) peers while they viewed six picture sets that independently manipulated hue, luminance and saturation. Nine eye-movement metrics were extracted per task and analysed with mixed-effects ANOVAs; false-discovery-rate control (q = .05) and Holm-Bonferroni corrections were applied across 54 planned tests. RESULTS: Across all tasks, the ASD group showed a 29% reduction in total fixation time (F = 11.13, q < .001; p(Holm) < .001†), a 19% reduction in fixation count (F = 5.88, q = .027), and 42% fewer saccades (F = 16.06, q < .001; p(Holm) < .001†). Individual fixations were shorter (F = 8.40, q < .001; p(Holm) < .001†). These differences generalised across all areas of interest. Stimulus-specific analyses revealed that highly saturated images amplified group differences in fixation metrics, whereas hue and luminance manipulations produced parallel but smaller effects. CONCLUSIONS: Children with ASD allocate less dwell time and execute fewer, briefer fixations and saccades, especially when stimuli are highly saturated. Because effects persisted after stringent multiple-comparison correction and were independent of pupil size, they likely reflect how brightness changes guide eye movements and moment-to-moment arousal.

Lien vers le texte intégral (Open Access ou abonnement)

19. Jinhe H, Min L, Jieling W, Shuhua S, Qiaoyun L. Recognition of basic affective prosody in children with autism spectrum conditions: A three-level meta-analysis based on emotional dimension theory. J Commun Disord. 2025; 118: 106589.

The recognition of basic affective prosody in children with autism spectrum condition (ASC) was investigated using a three-level meta-analysis. The analysis focused on emotional dimensions-namely, the three core attributes of emotion (arousal, valence, and dominance)-as well as experimental factors such as chronological age, sample size, stimulus presentation (stimuli with pure prosody or neutral semantic content), and semantic presentation (words and sentences). We examined how these features influenced affective prosody recognition in children with ASC. The meta-analysis comprised 16 empirical studies. A random effect model revealed a small but significant effect size (Hedges’ g = -0.277). Egger’s test and fail-safe N indicated an absence of publication bias. Heterogeneity analysis revealed a significant between-study variability, and no significant within-study heterogeneity was detected. Age, stimulus presentation and semantic presentation method did not significantly account for the observed between-study heterogeneity. However, significant group differences between ASC and typically developing (TD) children emerged when the semantic content was presented in a sentence form. Moreover, valence was a significant moderator. The difference between ASC and TD children was greater for positive-valence than negative-valence emotional expressions. Additionally, group differences were more pronounced for emotional expressions characterized by high arousal and high dominance. Furthermore, children with ASC exhibited greater difficulty recognizing affective prosody embedded in semantically complex contexts. In basic affective prosody recognition, children with ASC appear particularly sensitive to emotional valence. This finding is consistent across cultures. Moreover, the results of the meta-analysis were discussed in relation to the impacts of cue integration, information overload, impaired social cognition, abnormal neural system activation, and the development and accumulation of social experiences on children with ASC.

Lien vers le texte intégral (Open Access ou abonnement)

20. Johansson M, Kochukhova O, Larsson E, Montgomery C, Kaul YF. Perceptual interpretation of biological motion relates to autistic traits in children born very preterm. Exp Brain Res. 2025; 243(12): 242.

Children born very preterm (VPT, ≥ 28 to < 32 gestational weeks) and extremely preterm (EPT, < 28 weeks) are at higher risk for autistic traits and biological motion (BM) processing deficits. Thus, we aimed to examine links between autistic traits and a condensed BM interpretation assessment, as well as potential group differences in performance in 12-year-old children born preterm and full-term. Four short BM stimuli (point-light-walkers) in two noise levels were presented to 25 EPT, 53 VPT and 48 full-term 12-year-old children. Accuracy in BM interpretation was compared across groups and analyzed with parental ratings on the Social Responsiveness Scale 2, adjusting for neonatal characteristics and intelligence. Interactions between preterm status and BM interpretation accuracy with autistic traits were explored. Results showed that the children born EPT had poorer accuracy interpreting BM than the other groups, and children born VPT showed poorer accuracy BM interpretation in high noise compared with the full-term group. BM interpretation accuracy was linked to autistic traits in the EPT and VPT groups. Children born preterm with the poorest BM interpretation accuracy also exhibited the most autistic traits. We concluded that the condensed assessment found prematurity-related deficits in BM interpretation. Performance was strongly linked to autistic traits in the preterm groups, highlighting the relevance of BM interpretation for social reciprocity in children born VPT and EPT.

Lien vers le texte intégral (Open Access ou abonnement)

21. Li J, Xi H, Zhang Q, Duan T, Li D, Shi L, Gan S, Li H, Zhu C. Reduced Attentional Capture by Topological Changes in Children with Autism Spectrum Disorder: Evidence for a Perceptual Deficit. Neuropsychiatr Dis Treat. 2025; 21: 2401-13.

BACKGROUND: Deficits in the adaptive allocation of attention are considered a feature associated with autism spectrum disorder (ASD). It remains unclear whether the attention of children with ASD can be modulated involuntarily by stimulus-driven processes. Visual processing is believed to initiate with topological perception; thus, we investigate the modulation of attention shifts in children with ASD by altering topological properties. This approach aims to elucidate the mechanism underlying atypical attentional capture in ASD. METHODS: Our study recruited 32 ASD children and 30 age-matched typically developing (TD) children. Employing an attentional capture paradigm, we systematically documented the eye movement of both ASD and TD participants in response to stimuli that included non-topological change (nTC), topological change (TC) and abrupt onset. RESULTS: The results suggest that the attention of children with ASD fails to be captured by TC and onset stimuli, and the degree of attentional bias towards TC is significantly correlated with their scores on clinical diagnostic scales. CONCLUSION: Our results suggest that atypical attentional capture in ASD children is likely a result of impaired processing of topological perception. This finding not only enhances our understanding of their attentional atypicality but also provides insights for intervention practices to improve global processing.

Lien vers le texte intégral (Open Access ou abonnement)

22. Mathée-Scott J, Corrigan G, Lorang E, Hesse Z, Johnson J, Venker CE. A novel method for examining autistic children’s comprehension of individual words produced within delayed echolalia: a proof-of-concept pilot study. Front Psychol. 2025; 16: 1681076.

Delayed echolalia, or the repetition of previously heard speech, is often observed in the expressive language of autistic children. Relatively little is known about how the production of delayed echolalia fits within the overall picture of autistic children’s language ability, including receptive language. To date, no empirical studies have tested autistic children’s comprehension of individual words within their delayed echoes. The present study aimed to establish proof-of-concept for a novel method of examining children’s comprehension of individual words that they produce in their own delayed echoes. Using natural language sampling combined with parent report, we identified instances of delayed echolalia in two young autistic children. We then employed eyegaze methods (i.e., Looking-While-Listening) to test children’s comprehension of individual target words derived from their delayed echoes. Preliminary results revealed that two autistic participants demonstrated comprehension of individual words that they produced in delayed echoes in two different carrier phrases and as single words (p’s < 0.001). These findings suggest that it is feasible to employ eyegaze methods to test autistic children's comprehension of the individual words within their own delayed echoes.

Lien vers le texte intégral (Open Access ou abonnement)

23. Randell E, Forslund T, Strandberg T, Holmefur M, Wennberg B. Parenting Young Children (PYC) for parents with intellectual and developmental disabilities: parents’ experiences of the support program’s methodology. J Intellect Dev Disabil. 2025: 1-11.

BACKGROUND: Research on how parents with intellectual and developmental disabilities perceive the Parenting Young Children (PTC) support program for the development of parenting skills is scarce. The study explored parents’ experiences of PYC’s methodology. METHOD: Interviews were conducted with 15 Swedish parents (8 mothers, 7 fathers) at risk for child neglect who had received PYC for 6 months or longer. The interviews were analysed with reflexive thematic analysis. RESULTS: Two main themes, with six subthemes, were identified: « Developing a trusting relationship with the PYC practitioner » and « Tailored support, planning, and training in collaboration. » One overarching theme was also created: « The PYC methodology facilitates learning of parenting skills through a trusting and collaborative process guided by adapted support. » CONCLUSION: Parents with intellectual and developmental disabilities perceived the PYC methodology as helpful and well-adapted. The study highlights that learning parenting skills can be facilitated by a collaborative and tailored approach using behavioural teaching strategies.

Lien vers le texte intégral (Open Access ou abonnement)

24. Shwetabh RK, Singh A, Mandal K, Naranje K, Verma A. Congenital disorder of glycosylation type IIb in an infant with developmental and epileptic encephalopathy. BMJ Case Rep. 2025; 18(11).

We report a term infant presenting in early infancy with progressive developmental delay, feeding difficulties, recurrent seizures and failure to thrive. The infant initially exhibited symptoms from early neonatal age, including vomiting, lethargy and seizures, necessitating multiple hospitalisations. Progressive neurological deterioration, hepatomegaly, bilateral nephromegaly, hypothyroidism, gastro-oesophageal reflux disease and auditory neuropathy were noted. MRI showed cerebral atrophy and dilated ventricles. Extensive investigations ruled out infections, metabolic acidosis and structural brain malformations. Whole exome sequencing identified a homozygous missense mutation in the mannosyl-oligosaccharide glucosidase (MOGS) gene (c.2090T>C; p.Leu697Ser), previously reported in MOGS CDG (congenital disorder of glycosylation type IIb). A mannose-based diet led to partial improvement. This case highlights the importance of considering neurometabolic conditions such as CDG in infants with early-onset developmental and epileptic encephalopathy and multisystem involvement. Early diagnosis and supportive multidisciplinary care are vital for improving outcomes and guiding family counselling.

Lien vers le texte intégral (Open Access ou abonnement)

25. van Arnhem MML, van Teeseling HC, van den Berg L, Braun KPJ, Jansen FE. Intelligence outcomes in 17 patients with developmental and/or epileptic encephalopathy with spike-wave activation in sleep ((D)EE-SWAS) after remission of SWAS. Epilepsy Behav. 2025; 173: 110806.

Developmental and/or Epileptic encephalopathy with spike-wave activation in sleep ((D)EE-SWAS) is an age related epilepsy syndrome that is associated with, often profound, cognitive deterioration in childhood. Although the EEG pattern in (D)EE-SWAS resolves, cognitive deficits persist during adulthood. Studies assessing objective cognitive outcomes after resolution of the EEG SWAS pattern are scarce. In this study we assessed intelligence quotient (IQ) scores after remission of SWAS in seventeen patients with a history of (D)EE-SWAS. In all patients with IQ data available before the onset of SWAS there was a profound decline in IQ during (D)EE-SWAS (mean decline -22.1 IQ points, sd 9.3). When we plotted change in IQ over time we observed two different developmental trajectories: in 8 children there was a further decrease of IQ after remission of SWAS (mean decrease of 8.1 IQ points, sd 4.8) and in 9 children an increase (mean increase of 15.9 IQ points, sd 11.0). The group with a decrease of IQ had a significantly earlier first assessment of SWAS. Our results reinforce the classification of (D)EE-SWAS as a true epileptic encephalopathy and suggest that an earlier onset of SWAS is related to poorer neurodevelopmental outcome.

Lien vers le texte intégral (Open Access ou abonnement)

26. Vanneau T, Brittenham C, Darrell M, Foxe JJ, Molholm S. Neural oscillatory dynamics reveal altered top-down and integrative mechanisms during face processing in autistic children and unaffected siblings of autistic children. bioRxiv. 2025.

Face processing is fundamental to social communication and has been a major focus of autism research. While event-related potential (ERPs) studies of face processing have produced mixed results, little work has examined neuro-oscillatory dynamics, which may better capture the integrity of underlying networks. To address this gap, EEG was recorded from children aged 8-13 across three groups: autistic ( n = 50), non-autistic ( n = 38) and siblings of autistic children ( n = 26), during a visual oddball task. In a blocked design, participants viewed faces and objects, presented upright and inverted (non-targets), to assess the face inversion effect (the FIE; a larger or earlier N170 to inverted than upright faces), and responded to infrequent shadow versions (targets). Analyses using permutation statistics and linear mixed models focused on non-target stimuli, quantifying face-related ERPs (P1, N170) and oscillatory activity associated with sensory and attentional processing (theta, alpha, gamma). Across groups, faces elicited earlier P1 and larger N170 amplitudes than objects, and showed a FIE. Furthermore, the rightward lateralization of the FIE was reduced for autistic participants. Analyses in the frequency domain revealed greater induced theta for inverted versus upright stimuli and for faces versus objects, revealing face specific effects, and stronger theta for inverted faces for the autistic and sibling groups, suggesting greater cognitive effort in processing these social stimuli. Gamma-band inter-trial phase coherence exhibited face selectivity only in the non-autistic group, pointing to differences in early network synchronization in autistic children relative to their non-autistic peers, whereas alpha event-related desynchronization did not vary by group or category. Altogether, these findings support altered neural synchronization/efficiency for autistic participants and siblings of autistic children, that is specific to face stimuli and seen despite largely typical sensory driven encoding. These data suggest that neural oscillatory assays are more sensitive to face processing differences in autism than broadband ERPs and that these oscillatory assays may be endophenotypic.

Lien vers le texte intégral (Open Access ou abonnement)

27. Wu P, Davis NO, Engelhard MM, Dawson G, Goldstein BA. Using mixture cure models to address algorithmic bias in diagnostic timing: autism as a test case. JAMIA Open. 2025; 8(6): ooaf148.

OBJECTIVES: To address algorithmic bias in clinical prediction models related to the timing of diagnosis, we evaluated the efficacy of mixture cure models that integrate time-to-event and binary classification frameworks to predict diagnoses. MATERIALS AND METHODS: We conducted a simulation and analyzed real-world North Carolina Medicaid data for children born in 2014, followed until 2023. The study evaluated traditional time-to-event and classification models against mixture cure models under scenarios with varied diagnostic timing and censoring. RESULTS: Simulation results demonstrated that traditional models exhibit increased bias as diagnosis timing differences widened, whereas mixture cure models yielded unbiased estimates across varying censoring times. In real-world analyses, significant racial and ethnic variations in autism diagnosis rates were observed, with non-Hispanic White children having higher diagnosis rates compared to other groups. The mixture cure model effectively adjusted for these disparities, providing fairer and more accurate diagnostic predictions across varying levels of censoring. DISCUSSION: Mixture cure models effectively address algorithmic bias by providing unbiased estimates regardless of variations in diagnostic timing and censoring, making them particularly suitable for conditions like autism where not all individuals will receive a diagnosis. This approach shifts focus from when an event will occur to whether it will occur, aligning more closely with clinical needs in early detection of pediatric developmental conditions. CONCLUSION: Mixture cure models offer a promising tool to enhance accuracy and fairness in predictive modeling, especially when the outcome of interest is not uniformly observed across groups.

Lien vers le texte intégral (Open Access ou abonnement)