Pubmed du 23/06/25

Pubmed du jour

1. Azevedo M, Martins A, Pereira T, Couto PS, Lousada M. The Effects of PROsyntax in Children with Developmental Language Disorder and Autism Spectrum Disorder: A Nonrandomized Controlled Trial. Autism Dev Lang Impair. 2025; 10: 23969415251350586.

BACKGROUND: Children with autism spectrum disorder (ASD) and children with development language disorder (DLD) often experience syntactic impairments. It is of the utmost importance to implement evidence-based intervention at the earliest possible stage to mitigate the adverse effects of these difficulties. Internationally, several programs are supported by scientific evidence. In Portugal, there are currently only two intervention programs, one of which is PROsyntax. However, its effectiveness has not yet been established. AIM: This study aims to determine the effects of PROsyntax on expressive and receptive syntax in preschool-age children with syntactic impairments diagnosed with DLD or ASD. METHODS AND PROCEDURES: This study is a nonrandomized controlled trial with a nonprobabilistic convenience sample. Thirty-one children aged between 3 and 6 years were recruited and allocated into an experimental group (EG, intervention group) (n = 14) and a control group (CG, without intervention) (n = 17). A blind pre- (T1) and postintervention (T2) assessment was conducted using two standardized instruments (SIN:TACS for expression and Subtest 3 of Avaliação da Linguagem Oral (ALO) for comprehension). Children in the EG received intervention with PROsyntax, comprising 24 sessions, biweekly, lasting 1 hr each. The intervention was conducted within the school setting by a speech and language therapist. OUTCOMES AND RESULTS: Statistically significant improvements were observed in the EG compared to the CG in both expressive (F(Time × Group)(1,27) = 293.22; p < .001; η(p) (2) = 0.92) and receptive (F(Time × Group)(1,27) = 147.18; p < .001; η(p) (2) = 0.85) syntax. Large effect sizes were found (SIN:TACS: d = 4.07 (DLD) and d = 11.67 (ASD); ALO: d = 3.29 (DLD) and d = 4.31 (ASD)). Strong correlations between measures were observed at both time points. Postintervention, the CG also received the intervention and showed comparable gains. High satisfaction ratings were reported by both families and early childhood educators. CONCLUSIONS AND IMPLICATIONS: The findings provide preliminary evidence supporting the effects of PROsyntax in improving expressive and receptive syntactic skills in preschool-age children with ASD or DLD. These findings have important implications for clinical practice, suggesting that explicit interventions can yield significant gains in preschool-age children with syntactic impairment. However, the nonrandomized design, small sample size, and absence of long-term follow-up limit the generalizability of results. Further research is needed to confirm these effects and explore differential responses across diagnostic groups.

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2. Briet G, Le Maner-Idrissi G, Seveno T, Le Sourn-Bissaoui S. Effectiveness of a Peer-Mediated Intervention During iPad-Based Academic Tasks on Social Behaviors of Four Students with Autism Spectrum Disorder. J Autism Dev Disord. 2025.

The present study aimed to examine the effectiveness of a peer-mediated pivotal response treatment implemented during iPad-based academic tasks on the social behaviors of children with autism spectrum disorder (ASD) and typically developing (TD) peers. Four children with ASD and four TD children attending mainstream school settings participated. A multiple baseline design across dyads was used to measure the effects of the intervention on the social behaviors of participants. After the intervention, all children increased their rates of social responses, one child with ASD increased his rate of social initiations and three TD children increased their rates of social initiations. Additionally, inappropriate social behaviors decreased for three children with ASD. The improvements were maintained for all participants. These findings suggest that a PMI-PRT implemented during iPad-based academic tasks may be a viable option for targeting the inclusive education of students with ASD, especially for promoting positive social relationships with peers.

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3. Chen E, Schmitt J, McIntosh G, Young BP, Lian T, Liu J, Chen KK, Liston JB, MacDonald L, Wang B, Medina Giro S, Boehme B, Das M, Indran S, Chao JT, Rogic S, Pavlidis P, Allan DW, Loewen CJR. Revealing function-altering MECP2 mutations in individuals with autism spectrum disorder using yeast and Drosophila. Genetics. 2025.

Pathogenic variants in MECP2 commonly lead to Rett syndrome, where MECP2’s function as a DNA cytosine methylation reader is believed critical. MECP2 variants are also catalogued in individuals with autism spectrum disorder (ASD), including nine missense variants which had no known clinical significance at the start of this study. To assess these nine variants as risk alleles for ASD, we developed MECP2 variant functional assays using budding yeast and Drosophila. We calibrated these assays with known pathogenic and benign variants. Our data predict that four ASD variants are loss of function and five are functional. Protein destabilization offers insight into the altered function of some of these variants. Notably, yeast and Drosophila lack DNA methylation, yet all Rett pathogenic and ASD variants located in the methyl DNA binding domain that we analyzed proved to be loss of function, suggesting a clinically-relevant role for non-methyl DNA-binding by MECP2.

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4. Coco ER, Munson J, John TS, Dager SR, Botteron K, Elison J, Garic D, Hazlett H, Lee C, Marrus N, Pruett JR, Jr., Schultz R, Shen M, Zwaigenbaum L, Piven J, Estes A. Sleep in Infants with Down Syndrome or Familial Likelihood of Autism in the First Year of Life. J Autism Dev Disord. 2025.

Sleep problems have been associated with atypical development, but there is limited understanding of when sleep problems arise and how they differ across clinical populations. We aimed to evaluate sleep characteristics of infants with Down syndrome (DS), higher familial likelihood of autism (HL) and lower familial likelihood of autism (LL) at 6 and 12 months of age. Participants were from two longitudinal, multi-site, studies. Sleep was estimated by parent report on the Brief Infant Sleep Questionnaire at 6 months (59 DS, 173 HL, 54 LL); 12 months (58 DS, 129 HL, 30 LL); and in a longitudinal subset at both 6 and 12 months (100 HL; 23 LL; 33 DS). At 6-months, DS parents reported less concern about infant sleep and less night wakefulness than LL parents; HL parents reported longer sleep onset latency (SOL). At 12 months DS parents reported less night sleep and more night wakefulness; HL parents reported less night sleep, more night wakefulness and longer SOL compared to LL. Night wakefulness increased significantly in the DS and HL groups from 6 to 12 months of age. A higher proportion of DS and HL infants decreased Night Sleep and increased Night Wakefulness compared with the LL group. A higher proportion of DS infants increased SOL compared with the LL group. Sleep alterations are present in the first year of life and may differ in DS and HL infants. The mechanisms behind these sleep alterations may be an important early intervention target.

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5. de Marchena A, Cuneo N, Gurbuz E, Brown M, Trujillo J, Bergstrom J. Communication in Autistic Adults: An Action-Focused Review. Curr Psychiatry Rep. 2025.

PURPOSE OF REVIEW: This review focuses on recent research (primarily published between 2020-2024) describing unique aspects of communication in autistic adults. We review research on communication-related outcomes, as well as four communication topics frequently cited as important to autistic people (literal and non-literal language, augmentative and alternative communication, nonverbal communication, and double empathy). RECENT FINDINGS: A substantial proportion of autistic adults do not develop fluent language by adulthood. Autistic adults frequently experience communication barriers impacting relationships, employment, and health. These barriers arise from multiple sources (e.g., language, nonverbal communication, and unaccommodating environments and communication partners). Thus, it is essential to take a multifaceted approach to supporting autistic adults to ensure their communication success. We conclude that it is vital for clinicians and researchers to understand how autistic traits commonly manifest in adults and to accept and accommodate communication differences as they arise. To that end, we offer specific recommendations to help clinicians and researchers strengthen their interactions with the autistic people in their lives.

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6. Diemer MC, Ros-Demarize R, Bradley CC, Kanne S, Kim SH, Parish-Morris J, Snyder LG, Wodka E, Carpenter LA. Comparative Analysis of Autistic Women Across the Lifespan: Childhood vs. Adulthood Diagnosis. Autism Res. 2025.

This study investigates the experiences of autistic adult women, a group understudied in autism research due to a predominant focus on early identification/intervention, restrictive research participation criteria, and differing rates of diagnosis by sex. This study characterizes a cohort of autistic adult women (n = 1424) across various dimensions including demographics, relationships, education, employment, income, well-being, and co-occurring psychiatric conditions. It also explores differences among those diagnosed with autism as children versus those diagnosed as adults. The sample was limited to women able to read and provide independent consent to participate. Results indicated that the average age of diagnosis for those diagnosed before age 18 was 9.6 years old, whereas for those diagnosed in adulthood it was 31.8. Over 80% of the sample had completed some college or post-secondary education, with more than a third of those diagnosed as adults having attained a 4-year college degree or higher. More than half were employed, with those diagnosed as adults more likely to be employed full time (31.74%). Additionally, more than half were married or identified a romantic partner. Significant rates of psychiatric comorbidity were reported, with those diagnosed with autism as adults more likely to have co-occurring anxiety (69.87%), depression (61.79%), eating disorders (17.28%), and substance use diagnoses (8.85%) than those diagnosed as children. High rates of suicidal ideation (34%) and self-harm (21%) were endorsed in the full sample. Regression analyses indicated that being diagnosed with autism at a later age was associated with higher internalizing, externalizing, and substance use as well as a lower report of personal strengths, even when accounting for demographic factors. Despite these challenges, our findings highlight that many autistic women have positive outcomes and meet common adult developmental milestones. The authors advocate for the development of more tailored treatment options that address the specific needs of autistic women.

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7. Downs J, Adams M. Re-imagining connection: the role of late autism diagnosis in eating disorder recovery and social support. J Eat Disord. 2025; 13(1): 120.

This paper explores the complex relationship between autism, social connection, and eating disorder recovery, drawing on the lived experiences of two late-diagnosed autistic adults with histories of longstanding and severe eating disorders. Using narrative and autoethnographic methods, we examine how delayed autism diagnosis intersects with the social dimensions of illness, and the process of treatment and recovery. We identify unique barriers autistic individuals with eating disorders face in building meaningful social connections, navigating support systems, and accessing appropriate care. By integrating personal insights with existing research, we advocate for earlier autism screening and neurodiversity-affirming treatment approaches that embrace and value autistic differences, including the strengths inherent in neurodivergence. This requires a shift in how social support is conceptualised within eating disorder care, prioritising the creation of meaningful connections that address the unique social and emotional needs of autistic individuals. We argue for clinical practices that not only recognise the challenges faced by neurodivergent individuals but also embrace the strengths they bring, fostering environments where autistic individuals can engage authentically in their recovery process. This approach ultimately benefits patients and treatment providers alike, promoting more inclusive, empathetic, and effective care for all.

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8. Dufault RJ. Biomarkers for tracking metabolic changes pre-post nutritional epigenetics diet/intervention to prevent autism and attention deficit/hyperactivity disorders in children. World J Exp Med. 2025; 15(2): 101555.

The prevalence of autism and attention deficit/hyperactivity disorders is increasing worldwide. Recent studies suggest the excessive intake of ultra-processed food plays a role in the inheritance of these disorders via heavy metal exposures and nutritional deficits that impact the expression of genes. In the case of the metallothionein (MT) gene, biomarker studies show dietary zinc (Zn) deficits impact MT protein levels in children with autism and are associated with the bioaccumulation of lead and/or mercury in children exhibiting autism/attention deficit/hyperactivity disorders symptomology. The impact of dietary changes on lead and mercury exposures and MT gene behavior could be determined using a randomized test and control group design. Pregnant women serving in the test-group would participate in a nutritional epigenetics education intervention/course designed to reduce ultra-processed food intake and heavy metal levels in blood while increasing whole food intake and MT and Zn levels. Changes in maternal diet would be measured using data derived from an online diet survey administered to the test and control groups pre-post intervention. Changes in maternal lead, mercury, Zn, and MT levels would be measured via blood sample analyses prior to the intervention and after childbirth via cord blood analyses to determine infant risk factors.

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9. Hinde K, Hald GM, Hallford D, Gilmour J, Arendt M, Pavan S, Austin D. Posttraumatic stress symptoms in Australian parents of autistic children: Factor structure of the International Trauma Questionnaire (ITQ) and the Posttraumatic Stress Disorder Checklist for the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (PCL-5). Psychol Trauma. 2025.

OBJECTIVE: Research indicates that parents of autistic children may have a higher risk of posttraumatic stress disorder (PTSD) than parents of neurotypical children. This study was to determine the optimal factor structure of two trauma screening assessments: the PTSD Checklist for Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-5) and the International Trauma Questionnaire, within this parent population. METHOD: Confirmatory factor analysis examined and compared one novel DSM-5 model and 14 previously identified DSM-5 and International Classification of Diseases 11th Revision (ICD-11) trauma symptom models among Australian parents of autistic children (N = 563). RESULTS: Three DSM-5 PTSD models (anhedonia, hybrid, and intrusion/distress) provided a marginal fit, with the novel intrusion/distress model offering a superior fit. None of the five DSM-5 models tested achieved a good overall fit. For ICD-11, a three-factor model best fit the latent structure of PTSD symptoms. For complex PTSD (CPTSD), a two-factor second-order model and a six-factor first-order model provided a superior fit over five alternative CPTSD models. CONCLUSIONS: Results strongly support the internal reliability and construct validity of the ICD-11 PTSD and CPTSD models in Australian parents of autistic children, as measured by the International Trauma Questionnaire. The ICD-11 models outperformed the best DSM-5 models, highlighting their superiority for this population. While more complex DSM-5 models showed better fit than simpler ones, they still did not achieve a good overall fit. Notably, the results were largely consistent when assessing individuals meeting Criterion A for PTSD, specifically in relation to parenting-related traumatic experiences. The International Trauma Questionnaire is a more reliable and suitable tool for assessing PTSD and CPTSD in Australian parents of autistic children. (PsycInfo Database Record (c) 2025 APA, all rights reserved).

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10. Li J, Chai X, Song D, Wang M, Sun P, Zhao Y, Ren D, Liu F, Ni H, Jiang Y, Zhu X, Li E, Zhao S. Acer truncatum oil ameliorates autism-like behaviours by promoting maturation of oligodendrocytes and inhibiting neuroinflammation: the role of the brain-gut axis. Food Funct. 2025.

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder characterized by deficits in social communication and repetitive behaviours. The gut microbiota plays a pivotal role in the etiology of autism spectrum disorder, and its modulation represents a promising therapeutic strategy to alleviate autism-like behaviours. The purpose of this study was to evaluate the effects of Acer truncatum oil (ASO) on autism-like behaviours in an autistic mouse model, BTBR T(+) Itpr3(tf)/J (BTBR) mice, and to assess the related molecular mechanisms. The juvenile BTBR mice were administered with ASO for 36 consecutive days by gavage. Behaviour tests showed that ASO remarkably alleviated the autism-like behaviours of BTBR mice. In addition, the supplementation with ASO promoted the maturation of oligodendrocytes and suppressed microglial over-activation, and reduced the IL-1β and TNF-α levels in the hippocampus of the BTBR mice. Oral ASO administration also improved gut microbiota imbalances in BTBR mice by reducing the abundance of the harmful bacterium Mycoplasma and the ratio of Firmicutes to Bacteroidetes. Additionally, ASO decreased the expression of TNF-α and IL-1β, and increased the levels of ZO-1, claudin-1 and occludin in the intestine, thereby reducing intestinal inflammation and repairing intestinal barrier damage. Our results indicate that ASO has great potential in the treatment of autism, providing theoretical basis for the development of autism drugs.

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11. Markfeld JE, Feldman JI, Bush CT, Yoder PJ, Woynaroski TG. Project ImPACT Reduces Social Hyporesponsiveness and Translates to More Optimal Expressive Language Outcomes in Some Infants at Increased Likelihood of Autism. J Autism Dev Disord. 2025.

Low responsiveness to sensory stimuli, particularly stimuli that are social in nature (i.e., social hyporesponsiveness), predicts expressive language in autistic children and in infant siblings of autistic children (Sibs-autism), who are at high likelihood for a future diagnosis of autism and developmental language disorder. However, our understanding of whether social hyporesponsiveness can be addressed via early intervention to improve expressive language outcomes of Sibs-autism is limited. This randomized controlled trial investigated whether Project ImPACT, a caregiver-implemented Naturalistic Developmental Behavioral Intervention (NDBI), has an indirect effect on expressive language outcomes by reducing social hyporesponsiveness. Sibs-autism were randomized into a Project ImPACT group (n = 23) for 12 weeks of intervention, or into a non-Project ImPACT control group (n = 23). Social hyporesponsiveness was measured immediately following intervention, and expressive language was measured three months after the end of intervention. Project ImPACT indirectly influenced distal expressive language outcomes through social hyporesponsiveness, but only for infants whose caregivers had high levels of education at study entry. Clinical implications of the results are discussed.

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12. McQuillan TJ, Gabriel D, Miller PE, Waters PM, Bauer AS. Incidence of Autism Spectrum Disorder and Global Developmental Delay in Infants With Brachial Plexus Birth Injury: An Early Association With Birth Asphyxia. J Pediatr Orthop. 2025.

BACKGROUND: Autism spectrum disorder (ASD) and global developmental delay (GDD) are 2 common central nervous system (CNS) diagnoses in children. We hypothesized that the incidence of ASD and GDD is higher among patients with brachial plexus birth injury (BPBI), and that the subgroup of patients with BPBI and CNS diagnoses would have increased rates of maternal risk factors and birth-related complications. METHODS: A single institution prospective cohort of 849 patients with BPBI was used. Demographics, perinatal history, maternal factors and treatment, and patient outcomes were recorded. Charts were reviewed for concomitant diagnoses of GDD and ASD. Cohorts were compared regarding demographics and treatment data, and then age and sex-matched to analyze for risk factors. RESULTS: Of 834 unique patients seen for BPBI, 772 met inclusion criteria. Seventeen subjects had a diagnosis of GDD (13) or ASD (4) before the age of 5 years, an incidence of 2.2%, which is not different from the general population incidence of ASD and GDD. After age and sex-matching, a history of birth asphyxia (58% vs. 15%, P<0.05) was most associated with an increased likelihood of ASD or GDD diagnosis. Rates of shoulder dystocia and eventual surgical management did not differ between cohorts. CONCLUSIONS: Birth complications, especially birth asphyxia, are associated with GDD/ASD in patients with BPBI. Providers should consider that BPBI and GDD/ASD may coexist in children with a history of a complicated birth. LEVEL OF EVIDENCE: Level IV.

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13. Palanivelu L, Chen YY, Liang YW, Li SJ, Chang CW, Huang YT, Lo YC. Diffusion kurtosis imaging biomarkers associated with amelioration of neuroinflammation, gray matter microstructural abnormalities, and gut dysbiosis by central thalamic deep brain stimulation in autistic -like young rats. Neuroimage. 2025; 317: 121344.

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by abnormalities in brain microstructure, neuroinflammation, and social behavior deficits. In addition, children with ASD frequently exhibit irritable bowel syndrome and other gastrointestinal symptoms linked to anxiety. This study investigated if central thalamic nucleus deep brain stimulation (CTN-DBS) can improve social behavior, suppress neuroinflammation, restore brain microstructure, and reverse gut dysbiosis in the valproic acid-induced rat model of ASD by modulating the microbiota-gut-brain (MGB) axis. Daily CTN-DBS for 7 days (30 min/day) enhanced neuronal density, organization, and microstructural complexity as evidenced by increases in the diffusion kurtosis imaging (DKI) metrics-mean kurtosis (MK), axial kurtosis (AK), and radial kurtosis (RK). These neurostructural improvements were associated with reduced astrocyte and microglial activation, two core hallmarks of neuroinflammation in ASD, and lower systemic levels of the pro-inflammatory cytokines interleukin (IL)-1β, IL-6, interferon (IFN)-γ, and tumor necrosis factor (TNF)-α, signaling factors that may increase gut permeability and disrupt gut microbial composition. Indeed, CTN-DBS enhanced gut barrier function, promoted the proliferation of beneficial Bacteroides spp., and improved short-chain fatty acid (SCFA) metabolism, thereby restoring normal gut acetate and butyrate levels and counteracting dysbiosis. Specific energy absorption rate and thermal effect analyses demonstrated that CTN-DBS is safe under DKI. These findings support CTN-DBS as a safe and efficacious therapeutic strategy to reduce neuroinflammation, restore gray matter circuit function, and improve gut microbial composition in ASD via MGB axis modulation. Furthermore, DKI can reveal neurobiomarkers indicative of these improvements in ASD model rats.

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14. Valles-Capetillo E, Kurtz MR, Kana RK. The Role of the Brain’s Pragmatic Language Network in Reading Comprehension in Autistic Children. Autism Res. 2025.

One of the earliest and commonly reported symptoms of autism spectrum disorder (ASD) is a delay in language development. Such delay may sometimes accompany deficits which can have a long-term impact on reading comprehension. It is frequently reported that autistic children exhibit significant difficulties in pragmatics, which is the communicative use of language. While the focus of most studies on reading has been on comprehension, some have proposed a positive correlation between reading and pragmatics. Nevertheless, the neural mechanisms that underpin pragmatic language in autism remain poorly understood. The objective of this functional MRI study is to examine the differences in the brain’s Pragmatic Network (PN) during two levels of reading tasks in autistic and neurotypical (NT) children. The study included children aged 8-13 years (VA task = 26 ASD and 15 NT; MS task = 25 ASD and 15 NT). The results demonstrate that while both groups engaged the PN, the ASD participants exhibited additional recruitment of PN areas that overlapped with language processing, contextual integration of linguistic information, and theory of mind. Furthermore, the ASD group, but not the NT group, showed a correlation between the percentage of signal change and reading comprehension. In addition to underscoring the role of the PN in reading comprehension, these findings point to increased engagement of the PN in autism.

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