Pubmed du 16/02/25

Pubmed du jour

1. Andrés-Gárriz C, Farriols Hernando N, Gómez Hinojosa AM, Pretel-Luque T, Fàbregues S, Mumbardó-Adam C. Promoting Self-Determination in Young Adults with Autism: A Multicenter, Mixed Methods Study. J Autism Dev Disord;2025 (Feb 15)

Young people with autism have support needs related to self-determination that are currently not adequately addressed in Spain. This study aimed to assess the effectiveness, implementation, and acceptability of a program to support self-determination for young adults with autism in Spain. A multicenter, mixed methods randomized controlled trial (RCT) study was conducted (2020-2022). Young adults with autism between 17 and 30 years of age were recruited, and 40 were randomly assigned to the intervention or waiting-list group. Quantitative and qualitative data on outcomes relating to self-determination, program implementation and acceptability were collected at baseline, during, and after the intervention using several tools, including the SDI: SR and focus groups. Joint displays were used to integrate the quantitative and qualitative results for a comprehensive evaluation of the program. The quantitative results revealed no significant differences between the intervention and waiting list groups but indicated positive impacts on agentic actions and overall self-determination as reported by participants and caregivers. The qualitative results expanded the quantitative results by identifying personal and contextual barriers and facilitators of self-determination while offering deeper insights into the quantitative outcomes. Implementation fidelity was high, and the qualitative data provided areas for improvement and identified challenges and best practices. Program acceptability was high, and the group format proved useful. Our study provides the first empirical evidence of an intervention designed to promote self-determination in individuals with autism in Spain, but further research is needed. This trial was retrospectively registered at www.clinicaltrial.org (NCT05938751) on January 1(st), 2023.

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2. Gu S, Xu M, Li F. Persistence of autism spectrum disorder: Insights from a longitudinal follow-up study in China. Asian J Psychiatr;2025 (Feb 4);105:104385.

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3. Koegel LK, Ponder E, Bruzzese T, Wang M, Semnani SJ, Chi N, Koegel BL, Lin TY, Swarnakar A, Lam MS. Using Artificial Intelligence to Improve Empathetic Statements in Autistic Adolescents and Adults: A Randomized Clinical Trial. J Autism Dev Disord;2025 (Feb 15)

Challenges with social communication and social interaction are a defining characteristic of autism spectrum disorder (ASD). These challenges frequently interfere with making friendships, securing and maintaining employment, and can lead to co-occurring conditions. While face-to-face clinical interventions with trained professionals can be helpful in improving social conversation, they can be costly and are unavailable to many, particularly given the high prevalence of ASD and lack of professional training. The purpose of this study was to assess whether an AI program using a Large Language Model (LLM) would improve verbal empathetic responses during social conversation. Autistic adolescents and adults, 11-35 years of age, who were able to engage in conversation but demonstrated challenges with empathetic responses participated in this study. A randomized clinical trial design was used to assess the effects of the AI program (Noora) compared to a waitlist control group. Noora asks participants to respond to leading statements and provides feedback on their answers. In this study, participants were asked to respond to 10 statements per day 5 days per week for 4 weeks for an expected total of 200 trials. Pre- and post-intervention conversation samples were collected to assess generalization during natural conversation. Additionally pre- and post-intervention questionnaires regarding each participant’s comfort during social conversation and participants’ satisfaction with the AI program were collected. The results of this study demonstrated that empathetic responses could be greatly improved by using an AI program for a short period of time. Participants in the experimental group showed statistically significant improvements in empathetic responses, which generalized to social conversation, compared to the waitlist control group. Some participants in the experimental group reported improved confidence in targeted areas and most reported high levels of satisfaction with the program. These findings suggest that AI using LLMs can be used to improve empathetic responses, thereby providing a time- and cost-efficient support program for improving social conversation in autistic adolescents and adults.

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4. Koko M, Satterstrom FK, Warrier V, Martin H. Contribution of autosomal rare and de novo variants to sex differences in autism. Am J Hum Genet;2025 (Feb 11)

Autism is four times more prevalent in males than females. To study whether this reflects a difference in genetic predisposition attributed to autosomal rare variants, we evaluated sex differences in effect size of damaging protein-truncating and missense variants on autism predisposition in 47,061 autistic individuals using a liability model with differing thresholds. Given the sex differences in the rates of cognitive impairment among autistic individuals, we also compared effect sizes of rare variants between individuals with and without cognitive impairment or motor delay. Although these variants mediated different likelihoods of autism with versus without cognitive or motor difficulties, their effect sizes on the liability scale did not differ significantly by sex exome wide or in genes sex-differentially expressed in the cortex. De novo mutations were enriched in genes with male-biased expression in the adult cortex, but these genes did not show a significant sex difference on the liability scale, nor did the liability conferred by these genes differ significantly from other genes with similar loss-of-function intolerance and sex-averaged cortical expression. Exome-wide female bias in de novo protein-truncating mutation rates on the observed scale was driven by high-confidence and syndromic autism-predisposition genes. In summary, autosomal rare and damaging coding variants confer similar liability for autism in females and males.

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5. Odeh-Saba L. Mental health and personal growth of Arab mothers of children with and without intellectual developmental disabilities. Res Dev Disabil;2025 (Feb 14);158:104948.

BACKGROUND: Raising children with intellectual developmental disabilities (IDD) has implications for the mothers’ mental health, alongside positive outcomes such as personal growth. AIMS: To explore the experience of Israeli Arab mothers (coping strategies, sense of coherence [SOC], social support) of children with intellectual developmental disabilities-a topic that has not been researched enough through the years-alongside the experience of motherhood in Israeli Arab society in general. METHODS AND PROCEDURES: One hundred ninety-four Arab Israeli mothers, of whom 89 were mothers of children with mild intellectual developmental disabilities and 105 were mothers of children without disabilities, mothers completed self-report questionnaires which contained the Mental Health Inventory (MHI), The Posttraumatic Growth Inventory (PTGI), The Sense of Coherence Scale (SOC), The Support Functions Scale, The Coping Strategies Questionnaire (COPE), and The Family Inventory of Life Events and Changes (FILE). OUTCOMES AND RESULTS: Results indicate that mothers of children with ID perceive higher levels of stress, lower levels of SOC and report using more problem focused coping strategies than mothers of typically developed children. Stress, emotional focused coping strategies negatively correlated with MH, while SOC, social support and problem-focused coping were positively associated with MH. Only problem focused coping strategies were found to correlate with personal growth. CONCLUSIONS AND IMPLICATIONS: Perceived stress and SOC mediated the associations between the study group and MH, while problem-focused coping strategies mediated the association between the study group and personal growth. CONCLUSIONS AND IMPLICATIONS: These findings highlight the importance of mothers’ resources in enhancing their MH and personal growth. WHAT DOES THIS STUDY ADD?: The study emphasizes the importance of internal and external resources for the mental health of Arab mothers of children with and without intellectual developmental disabilities. Strengthening the mothers’ sense of coherence and use of problem-focused coping strategies by professionals may contribute to all mothers, particularly mothers of children with intellectual developmental disabilities.

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6. Pope L, Light J. Comparison of learning text vs. picture symbol AAC representations for young children on the autism spectrum. Augment Altern Commun;2025 (Feb 16):1-13.

Children on the autism spectrum(1) with minimal speech are generally provided with augmentative and alternative communication (AAC) systems that represent vocabulary using picture symbols (i.e., color line drawings). However, there has been minimal research investigating the comparative effectiveness of picture symbols vs. other types of symbol representation (e.g., text) in supporting the communication of children on the autism spectrum. Using a single case adapted alternating treatments experimental design, the current study compared learning of picture symbol and text representations, measured by the accurate identification and functional use of novel AAC symbols by young children on the autism spectrum with minimal speech. Two participants demonstrated notable acquisition of both picture symbols and text. The remaining four children had difficulty demonstrating learning of either symbol representation type. These results suggest that different symbol representations (e.g., digital photographs), layouts (e.g., visual scene displays), and/or instructional procedures (e.g., more naturalistic methods) may have been a better fit for these four participants. Additionally, variability in performance across participants underscores the critical importance of personalization of AAC systems – including symbol representation – based on comprehensive assessment of individual strengths and needs.

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7. Waugh JL, Hassan AOA, Funk AT, Maldjian JA. The striatal matrix compartment is expanded in autism spectrum disorder. J Neurodev Disord;2025 (Feb 15);17(1):8.

BACKGROUND: Autism spectrum disorder (ASD) is the second-most common neurodevelopmental disorder in childhood. This complex developmental disorder manifests with restricted interests, repetitive behaviors, and difficulties in communication and social awareness. The inherited and acquired causes of ASD impact many and diverse brain regions, challenging efforts to identify a shared neuroanatomical substrate for this range of symptoms. The striatum and its connections are among the most implicated sites of abnormal structure and/or function in ASD. Striatal projection neurons develop in segregated tissue compartments, the matrix and striosome, that are histochemically, pharmacologically, and functionally distinct. Immunohistochemical assessment of ASD and animal models of autism described abnormal matrix:striosome volume ratios, with an possible shift from striosome to matrix volume. Shifting the matrix:striosome ratio could result from expansion in matrix, reduction in striosome, spatial redistribution of the compartments, or a combination of these changes. Each type of ratio-shifting abnormality may predispose to ASD but yield different combinations of ASD features. METHODS: We developed a cohort of 426 children and adults (213 matched ASD-control pairs) and performed connectivity-based parcellation (diffusion tractography) of the striatum. This identified voxels with matrix-like and striosome-like patterns of structural connectivity. RESULTS: Matrix-like volume was increased in ASD, with no evident change in the volume or organization of the striosome-like compartment. The inter-compartment volume difference (matrix minus striosome) within each individual was 31% larger in ASD. Matrix-like volume was increased in both caudate and putamen, and in somatotopic zones throughout the rostral-caudal extent of the striatum. Subjects with moderate elevations in ADOS (Autism Diagnostic Observation Schedule) scores had increased matrix-like volume, but those with highly elevated ADOS scores had 3.7-fold larger increases in matrix-like volume. CONCLUSIONS: Matrix and striosome are embedded in distinct structural and functional networks, suggesting that compartment-selective injury or maldevelopment may mediate specific and distinct clinical features. Previously, assessing the striatal compartments in humans required post mortem tissue. Striatal parcellation provides a means to assess neuropsychiatric diseases for compartment-specific abnormalities. While this ASD cohort had increased matrix-like volume, other mechanisms that shift the matrix:striosome ratio may also increase the chance of developing the diverse social, sensory, and motor phenotypes of ASD.

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8. Xiao HL, Zhu H, Zeng TA, Xu F, Yu SH, Yang CJ. Potential similarities in gut microbiota composition between autism spectrum disorder and neurotypical siblings: Insights from a comprehensive meta-analysis. Neuroscience;2025 (Feb 16);567:172-181.

BACKGROUND: Previous studies have explored the differences in gut microbiota (GM) between individuals with autism spectrum disorder (ASD) and neurotypical controls. However, factors such as diet, lifestyle, and environmental exposure influence GM, leading to significant variability, even among neurotypical individuals. Comparing the GM of ASD individuals with neurotypical siblings, who share similar genes and living conditions, may offer better insights into the GM mechanisms associated with ASD. Therefore, this study aims to analyze the GM composition in ASD by comparing it to that of neurotypical siblings, potentially identifying microbiota that influence ASD. METHODS: We explored electronic databases up to July 2024, including EBSCOhost, PubMed, ScienceDirect, Web of Science, and Scopus. Meta-analysis using RevMan 5.4 assessed the relative abundance (RA) of gut bacteria from 8 phyla and 4 genera in ASD individuals and neurotypical siblings. RESULTS: Eight studies were included, involving 248 people with ASD and 197 neurotypical siblings. Significant but unstable differences were observed in the RA of Bacteroidetes, Firmicutes, and Fusobacteria. No significant differences were found in the RA of Proteobacteria, Cyanobacteria, Actinobacteria, Verrucomicrobia, Tenericutes, or Bacteroides, Roseburia, Sutterella, Bifidobacterium. CONCLUSIONS: GM composition in ASD individuals closely resembles that of neurotypical siblings, with only a few unstable differences. This suggests that other crucial bacteria or certain interacting environmental factors play a role. Further studies are needed to gather stronger evidence to uncover the differences in GM and their mechanisms in ASD people.

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