Pubmed du 05/06/25

Pubmed du jour

1. Al-Nefaie AH, Aldhyani THH, Ahmad S, Alzahrani EM. Application of artificial intelligence in modern healthcare for diagnosis of autism spectrum disorder. Front Med (Lausanne);2025;12:1569464.

INTRODUCTION: Symptoms of autism spectrum disorder (ASD) range from mild to severe and are evident in early childhood. Children with ASD have difficulties with social interaction, language development, and behavioral regulation. ASD is a mental condition characterized by challenges in communication, restricted behaviors, difficulties with speech, non-verbal interaction, and distinctive facial features in children. The early diagnosis of ASD depends on identifying anomalies in facial function, which may be minimal or missing in the first stages of the disorder. Due to the unique behavioral patterns shown by children with ASD, facial expression analysis has become an effective method for the early identification of ASD. METHODS: Hence, utilizing deep learning (DL) methodologies presents an excellent opportunity for improving diagnostic precision and efficacy. This study examines the effectiveness of DL algorithms in differentiating persons with ASD from those without, using a comprehensive dataset that includes images of children and ASD-related diagnostic categories. In this research, ResNet50, Inception-V3, and VGG-19 models were used to identify autism based on the facial traits of children. The assessment of these models used a dataset obtained from Kaggle, consisting of 2,940 face images. RESULTS: The suggested Inception-V3 model surpassed current transfer learning algorithms, achieving a 98% accuracy rate. DISCUSSION: Regarding performance assessment, the suggested technique demonstrated advantages over the latest models. Our methodology enables healthcare physicians to verify the first screening for ASDs in children.

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2. Alsaedi RH. Relation between executive functioning, sensory processing, and motor performance in children with autism. BMC Pediatr;2025 (Jun 5);25(1):457.

PURPOSE: The neurological model of autism proposes that higher-order processing disturbances underpin the condition’s behavioral features, although emerging evidence attributes these executive functioning issues to lower-order processing disturbances influenced by sensory and motor development. This raises an important question concerning the directionality and development trajectories of neurological disturbances in autism. Hence, this study sought to elucidate the overlapping relations among executive dysfunctions, sensory processing atypicalities, and motor performance disruptions in children with autism. METHODS: Data were collected from 119 children with autism and their parents/guardians, who were recruited from Bahrain, Saudi Arabia, and the United Arab Emirates. The participants’ executive functioning, sensory processing, and motor performance were assessed using standardized computerized neuropsychological tests and parent rating scales. Two models were developed to examine whether the downstream effects of sensory processing disturbances and motor performance delays predict/contribute to the cognitive disruptions observed in the children. RESULTS: The structural equation modeling results revealed there to be significant structural pathways leading from the latent sensory-motor domains to the latent executive functions, which held true for both laboratory and real-world functioning, indicating that sensory-motor issues contribute to more severe disturbances in executive functions. Notably, the model including the motor variable (measured using the BOT-2) was the best predictor of altered executive functioning in everyday and laboratory settings. CONCLUSIONS: The findings of this study indicate the potential of multifaceted and clinically integrated training programs that target both sensory and motor abilities in children with autism to improve their executive functioning. An in-depth understanding of the relations among these parameters may suggest new therapeutic approaches for these children.

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3. Au CWM, Luk HM, Ho S, Cheng SW, Lam STS, Chung BHY, Chong SC, Lo IFM. Fragile X syndrome: genetic and clinical profile in the Hong Kong Chinese population. Hong Kong Med J;2025 (Jun 5)

INTRODUCTION: Fragile X syndrome (FXS) is a common inherited cause of intellectual disability, and FXS testing is recommended as a first-line genetic investigation for global developmental delay or intellectual disability. This retrospective study evaluated the diagnostic yield of FXS testing and clinical features in Chinese patients in Hong Kong. METHODS: From 1993 to 2022, 7291 patients referred to the Clinical Genetic Service for neurodevelopmental conditions (eg, developmental delay, autism spectrum disorder, and intellectual disability) underwent FXS testing. In total, 103 individuals from 61 families were confirmed to have an FMR1 full mutation, including 59 index cases and 44 family members. Clinical features of 70 Chinese patients with FXS, including growth, neurobehavioural features, and other co-morbidities, were evaluated. RESULTS: The diagnostic yield of FXS testing was 0.8%. The median age at diagnosis for index cases was 4.1 years, with a trend towards earlier diagnosis in recent years. In 27 families (44.2%), multiple members carried a full mutation. Prenatal diagnosis was arranged in 11% of families. Developmental delay was observed in all males, compared with 45.0% of females. Intellectual disability affected 86.0% of males but only 30.0% of females. Common co-morbidities included obesity, autism spectrum disorder, attention-deficit/hyperactivity disorder, epilepsy, gastrointestinal problems, and sleep disturbances. Features such as strabismus, scoliosis, and mitral valve prolapse were rarely reported. CONCLUSION: Fragile X syndrome is more than a pure neurodevelopmental disorder. Our findings highlight the importance of early diagnosis and subsequent management, with awareness of relevant surveillance and management guidelines.

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4. Bollard M, Appleby B, Kempson S. Investigating Advanced Practice for People With Intellectual Disability and Autism: A Mixed Methods Study. J Clin Nurs;2025 (Jun 5)

INTRODUCTION: Little is known about the advanced practice contribution health professionals make when working with People with Intellectual Disability and Autism. This paper shares the findings from a study investigating the delivery and impact of two university-led online postgraduate certificates. These programmes specifically focused on preparing health professionals to practice at an advanced level, with people with intellectual disability and autism across the lifespan. AIMS: The aim was to evaluate the opportunities and challenges the programmes provided, reviewing the online delivery capacity and its usefulness for preparing this group of health professionals at an advanced level across two cohorts of learners. METHODS: A concurrent mixed methods approach was adopted, collating descriptive and qualitative data virtually between February 2023 and January 2024. Adults with intellectual disability and autism were involved in the panel deciding the outcome of the research tender, as steering group members and as members of a national workforce advisory panel. No computerised software was used for the data analysis. RESULTS: Observations from minimal descriptive data, virtual focus group, nine one-to-one interviews, text-based and a jam-board data revealed online pedagogical decisions through multi-professional action learning sets. This supported enhanced practice confidence, enquiry-based practice and inter-professional capability. CONCLUSIONS: Policy and decision makers should invest in more advanced practice programmes in this field, as they strengthen the care contribution for people with intellectual disabilities and autism. IMPLICATIONS FOR PRACTICE: Advanced practice learning can raise both practice confidence levels and improve opportunities for evidence-based service change for a group of people with complex needs. REPORTING METHOD: Mixed Methods Reporting in Rehabilitation Health Science.

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5. Davison KE, Liu T, Belisle RM, Perrachione TK, Qi Z, Gabrieli JDE, Tager-Flusberg H, Zuk J. Right-Hemispheric White Matter Organization Is Associated With Speech Timing in Autistic Children. J Speech Lang Hear Res;2025 (Jun 5);68(6):2685-2699.

PURPOSE: Converging research suggests that speech timing, including altered rate and pausing when speaking, can distinguish autistic individuals from nonautistic peers. Although speech timing can impact effective social communication, it remains unclear what mechanisms underlie individual differences in speech timing in autism. METHOD: The present study examined the organization of speech- and language-related neural pathways in relation to speech timing in autistic and nonautistic children (24 autistic children, 24 nonautistic children [ages: 5-17 years]). Audio recordings from a naturalistic language sampling task (via narrative generation) were transcribed to extract speech timing features (speech rate, pause duration). White matter organization (as indicated by fractional anisotropy [FA]) was estimated for key tracts bilaterally (arcuate fasciculus, superior longitudinal fasciculus [SLF], inferior longitudinal fasciculus [ILF], frontal aslant tract [FAT]). RESULTS: Results indicate associations between speech timing and right-hemispheric white matter organization (FA in the right ILF and FAT) were specific to autistic children and not observed among nonautistic controls. Among nonautistic children, associations with speech timing were specific to the left hemisphere (FA in the left SLF). CONCLUSION: Overall, these findings enhance understanding of the neural architecture influencing speech timing in autistic children and, thus, carry implications for understanding potential neural mechanisms underlying speech timing differences in autism. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.28934432.

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6. De Domenico C, Alito A, Leonardi G, Pironti E, Di Cara M, Piccolo A, Settimo C, Quartarone A, Gagliano A, Cucinotta F. Children and Adolescents with Co-Occurring Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder: A Systematic Review of Multimodal Interventions. J Clin Med;2025 (Jun 5);14(11)

Background/Objectives: The co-occurrence of Attention-deficit/hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD) is very common and worsens adaptive functioning. This systematic review evaluates both pharmacological and non-pharmacological interventions in this underserved population. Methods: Registered on PROSPERO (CRD42024526157), a systematic search was conducted on PubMed, Embase, and Web of Science until 5 April 2025. The review includes (a) pilot studies and RCTs, (b) participants aged <18 years, (c) diagnoses of ASD and ADHD based on DSM-IV/V or ICD-9/10, (d) at least one group receiving any intervention, and (e) publications in English, Italian, Spanish, or German. Newcastle Ottawa Scale tools for non-randomized studies and the Cochrane Risk of Bias Tools for randomized controlled trials were used to assess studies' quality. Results: A total of 32 studies were included: 87.5% concerning pharmacological treatments. Specifically, methylphenidate (MPH, n = 11), atomoxetine (ATX, n = 11), guanfacina (n = 4), clonidine (n = 1), or atypical antipsychotics (n = 1) were examined. MPH and ATX were most frequently studied, with both showing positive effects in reducing ADHD core symptoms compared to placebo. ATX also reduces stereotyped behaviors and social withdrawal, although more withdrawals due to adverse events (AEs) were reported for ATX than MPH. Four studies (12.5%) examined non-pharmacological interventions, including treatment with virtual reality tools, digital platforms, educational animations, and biomedical protocols; improvements in emotion recognition, behavioral regulation, attention, and social functioning were found. Conclusions: While limited data prevent definitive conclusions, MPH and ATX appear to be relatively safe and effective on hyperactivity-impulsivity symptoms, even in individuals with ASD. Evidence on non-pharmacological treatments is limited, and further studies are needed to better establish their therapeutic potential.

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7. Dilbaz-Gürsoy M, Noyan-Erbaş A, Esen H, Köse A, Özcebe E. What Influences Parenting Stress? Examining Parenting Stress and Self-Efficacy Across Groups of Children With Autism Spectrum Disorder, at Risk of Developmental Language Disorder, and With Typically Developing Language. J Speech Lang Hear Res;2025 (Jun 5);68(6):2837-2850.

PURPOSE: The purpose of this study was to examine whether there are differences in parenting stress levels and self-efficacy among children with autism spectrum disorder (ASD), at risk of developmental language disorder (rDLD), and with typically developing language (TDL). The study also investigated the children’s language abilities and/or behavioral problems as potential predictors of parents’ levels of stress and self-efficacy. METHOD: The study assessed children’s language skills and behavioral problems as well as parental stress and self-efficacy in a sample of 2- to 4-year-old children with ASD (n = 35), rDLD (n = 35), and with TDL (n = 25). RESULTS: The findings of the study revealed that parents of children with ASD experienced the highest level of parenting stress related to child characteristics and the lowest level of self-efficacy, whereas parents of children rDLD had higher parenting stress compared to parents of children with TDL. Furthermore, although behavioral problems were shown to be a predictor that explains parenting stress in all groups, expressive language was identified as a predictor only in the rDLD group. While parental self-efficacy was also found to be predicted by expressive language in the TDL group, it was discovered that self-efficacy affected parenting stress in parents of children with ASD and rDLD. CONCLUSIONS: These findings demonstrated that parental stress was a complex phenomenon impacted by several factors. This study may suggest the importance of interventions that aim to decrease parental stress and enhance self-efficacy, going beyond the children’s language skills and behavioral problems.

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8. Fernández-Sánchez J, Lavín-Pérez AM, Rincón LLL, García IG, Bermejo JV, Rueda JC, Fernández PE, Carceller SS, Collado-Mateo D. Impact of dog-assisted therapy on biomechanical and functional parameters in adults with autism spectrum disorder: A non-randomized controlled trial. Arch Psychiatr Nurs;2025 (Jun);56:151891.

Dog-assisted therapy (DAT) is a complementary therapy that can lead to several therapeutic benefits in different populations, but little investigation has been made about its benefits in adults with autism spectrum disorder (ASD). Thus, the present study aimed to explore the biomechanical and functional benefits of DAT in adults with ASD. The study was a non-randomized controlled clinical trial following the CONSORT guidelines, in which 25 adults with ASD participated. Twelve of them were involved in a dog-assisted intervention twice a week with a multidisciplinary team for 10 weeks. Results showed a within-group improvement in the gait (p = 0.041), balance (p = 0.020) and risk of falling (p = 0.022) of adults with ASD who completed dog-assisted intervention. However, no differences were found with the control group. Regarding the number of falls, all the adults who experienced a fall before de DAT decreased its number after the intervention. These results suggest the potential of DAT to address physical problems in groups of patients with difficulties or severe disabilities.

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9. Fong S, Carollo A, Vivanti G, Messinger DS, Dimitriou D, Esposito G. Autism Spectrum Disorders Discourse on Social Media Platforms: A Topic Modeling Study of Reddit Posts. Autism Res;2025 (Jun 5)

Social media platforms play a crucial role in shaping public perceptions of neurodevelopmental conditions, such as autism spectrum disorders, by providing spaces for community interaction and content sharing. These platforms hold the potential to foster connections and support among autistic individuals while offering valuable insights into their personal experiences and diverse perspectives. However, knowledge is limited on autism-related content shared within Reddit, one of the most prominent social media outlets. In this study, we aimed to examine discussions and narratives shared on Reddit about autism, with the dual objectives of identifying the main topics of discussion and exploring the lived experiences of autistic individuals. To achieve this, we utilized state-of-the-art natural language processing techniques to perform a topic modeling analysis on 740,042 autism-related posts collected from Reddit. Converging themes emerged when comparing the largest and most general subreddit in the dataset (r/autism) with 15 additional autism-related subreddits. The most prominent topics of discussion included challenges in social relationships, behaviors such as stimming, and sensory sensitivities. Additional themes highlighted specific emotional experiences and practical concerns, such as managing a diagnosis, navigating intervention options, and coping with daily life. These findings were organized and discussed in relation to social communication differences and restricted, repetitive behaviors, which are frequently highlighted in discussions about autism. At the same time, we acknowledge the perspective of autistic communities, which view these traits as differences rather than deficits, with many challenges arising from societal expectations and the pressure to mask neurodivergent traits. Together, the results provide a comprehensive overview of the most common topics discussed within autism-related social media content and offer valuable insights into the lived experiences and motivations for social media engagement among autistic individuals.

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10. Galán-Vera IZ, Robles-Bello MA, Sarhani-Robles A, Valencia-Naranjo N. Experiences and coping strategies of parents with children diagnosed with autism spectrum disorder in early care with emphasis on social skills and family cultural values: A qualitative study. Arch Psychiatr Nurs;2025 (Jun);56:151864.

Parents of children diagnosed with autism spectrum disorder (ASD) often experience a grieving process upon receiving the diagnosis. In Spain, early care centers focus on providing care to this population. However, little is known about parents’ experiences during this process, the daily challenges they face due to their children’s social skills deficits, and how their context and values influence this process. The aim of this study was to explore and describe the experiences of parents of children diagnosed with ASD in early care services, focusing on their children’s social skills and the family’s cultural values. For this purpose, a semi-structured interview was conducted with 17 parents and a qualitative thematic analysis was made based on the principles of Gadamer’s hermeneutic phenomenology. Three main themes could be identified: the emotional process of the parents upon receiving the diagnosis, the unanticipated obstacles and coping strategies they use, and the role of cultural family values that maintain the family dynamics. Part of the findings emphasize the need for greater parental mental health care, the social difficulties faced by both parents and their children, and the importance of support networks and parental values in raising their children.

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11. Geoffray MM, Oreve MJ, Jurek L, Sonie S, Schroder C, Delvenne V, Manificat S, Touzet S, Agathe J, Mengarelli F, Natacha G, Petit N, Speranza M, Bahrami S, Bouveret L, Dochez SL, Auphan P, Zelmar A, Falissard B, Carlier S, Nourredine M, Denis A, Febvey-Combes O. Early Start Denver Model effectiveness in young autistic children: a large multicentric randomised controlled trial in two European countries. BMJ Ment Health;2025 (Jun 5);28(1)

BACKGROUND: Evidence regarding early interventions based on the Naturalistic Developmental Behavioral Interventions framework, such as the Early Start Denver Model (ESDM), suggests efficacy for autistic children. However, the effectiveness of ESDM across diverse cultural contexts remains under-researched. OBJECTIVE: To assess the effectiveness of ESDM compared with treatment as usual (TAU) on overall development in young children with autism spectrum disorder (ASD). METHOD: This parallel, randomised controlled trial, using a modified Zelen design, was conducted in five Child and Adolescent Mental Health Services in France and Belgium. A total of 180 children aged 19-36 months, who met autism criteria and were referred by community professionals, were randomly assigned to either receive 12-hour weekly ESDM+TAU or TAU alone. The primary outcome was the change in developmental quotient (DQ) on the Mullen Scale of Early Learning, assessed blindly from baseline to 24 months post randomisation. FINDINGS: From September 2015 to March 2019, 180 children were randomly assigned to either ESDM+TAU (n=61, girls=21.7%) or TAU alone (n=119, girls=15.4%). Three children dropped out immediately after randomisation. Compared with TAU alone, children in the ESDM+TAU group did not significantly improve global DQ (endpoint mean difference 3.82 (95% CI -1.25 to 8.89), p=0.14). CONCLUSIONS AND CLINICAL IMPLICATIONS: Our findings suggest that ESDM+TAU cannot be universally recommended for young children with ASD. Further research is required to evaluate the long-term effectiveness of ESDM and identify subgroups that may benefit more, thereby guiding optimal implementation strategies. TRIAL REGISTRATION NUMBER: NCT02608333.

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12. Gill C, Zuo Y, Ha DS, Littman R, Hong J, Cheng J, Blencowe M, Wang SS, Hong W, Wu YE, Yang X. Convergence and Divergence of Common and Rare Variants of Autism Spectrum Disorders in Tissue-specific Pathways and Gene Networks. Res Sq;2025 (May 15)

The genetic heterogeneity of autism spectrum disorder (ASD) presents significant challenges in understanding its pathogenic mechanisms, as the genetic risk involves numerous common variants and rare de novo or inherited variants. Prior research has mainly focused on identifying rare variants and their impact on neurodevelopment and neuronal functions in cortical brain regions. By contrast, common variants, which contribute substantially to ASD heritability, remain understudied, suggesting a need to consider both variant types to understand ASD’s genetic mechanisms. Previous studies have also implicated subcortical brain regions and peripheral digestive and immune systems, but tissue-specific mechanisms remain unclear. We address these knowledge gaps by identifying gene networks, pathways, and key regulators informed by ASD common variants in brain and peripheral tissues, further examining whether these networks also capture genes informed by rare variants. Our approach integrates genome wide association study (GWAS) summary statistics, tissue-level genetics of gene expression, and gene coexpression and transcriptional regulatory networks across ~50 tissues. Our multitissue, multiomics analysis reveals that key brain regions and networks crucial for synaptic signaling and neurodevelopment are enriched for both rare and common variants, whereas peripheral tissues, such as the digestive and immune systems, are primarily informed by common variants. This partitioning of key tissues and biological pathways into core (targeted by both variant types) and modifying components provide insight into ASD heterogeneity. We also identified central gene network regulators, such as SYT1 and ADD2, which may orchestrate the effects of both common and rare ASD genetic risk factors on ASD pathogenesis.

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13. Hadad E, Segal O. Theory of Mind Abilities and Comprehension of Mental Terms in Subgroups of Children With Autism Spectrum Disorder and Developmental Language Disorder. J Speech Lang Hear Res;2025 (Jun 5);68(6):2885-2899.

PURPOSE: This study examined how subgroups of children with autism spectrum disorder (ASD) and developmental language disorder (DLD) perform on theory of mind (ToM) tasks and comprehend mental terms. METHOD: Eighty Hebrew-speaking children aged 5-6 years were divided into four groups: children with DLD, ASD and language impairment (ASD-LI), and ASD and typical language abilities (ASD-LN) and typically developing (TD) peers. Language was assessed using the Hebrew Goralnik test. All participants had an average nonverbal IQ (> 85). Comprehension of mental terms, including the factive verb know, the nonfactive verbs think and guess, and the adjective sure, was evaluated contrasting these terms by using 12 paired stimuli organized into three sets. RESULTS: TD children scored highest on the Theory of Mind Task Battery (ToMTB), followed by ASD-LN, ASD-LI, and DLD groups. For factive and nonfactive terms (FNFTs), ASD-LN performed highest, followed by TD, DLD, and ASD-LI. One-way analyses of covariance controlling for nonverbal IQ revealed significant group differences. Pairwise comparisons demonstrated that TD and ASD-LN outperformed ASD-LI and DLD on the ToMTB and FNFTs. Hierarchical regression analysis indicated that both nonverbal intelligence and language ability significantly predicted ToM performance. The addition of FNFT comprehension increased the explanatory power of the model. CONCLUSIONS: This study underscores differences in ToM and FNFT comprehension across subgroups and highlights similarities between ASD-LI and DLD. These findings emphasize the strong link between language skills and ToM abilities, with FNFT comprehension playing a crucial role in ToM development.

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14. Hsieh M, Wang HT, Chen YP, Wang WC. Reliability and Validity of the Chinese Version of the Social Skills Improvement System Autism Spectrum Scale. J Autism Dev Disord;2025 (Jun 5)

The purpose of this study was to examine the reliability and validity of the Chinese version of the SSIS Autism Spectrum Scale Teacher Form, a scale of the SSIS-Rating Scales (Social Skills Improvement System Rating Scales) created by Gresham and Elliott. The scale consists of 15 items divided into two subscales: social skills and problem behaviors related to autism. The participants included 541 school-age children aged 4 to 18 years old (266 females, 275 males). The Autism Behavior Checklist-Taiwan Version Teacher Form was used as a criterion measure. Data analyses were performed using SPSS 25 and Mplus 8.3 statistical package programs, with procedures including reliability testing, criterion-related validity testing, and confirmatory factor analysis (CFA). The results suggested that the SSIS Autism Spectrum Scale Teacher Form has adequate internal consistency reliability, test-retest reliability, and convergent validity. In addition, the confirmatory factor analysis results supported the two-factor structure of the Chinese version of the SSIS Autism Spectrum Scale Teacher Form.

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15. Keen DL. Enhancing the Well-Being of Older Adults and Young Adults with Developmental Disabilities Through an Intergenerational Community Garden: Participatory Action Research. Glob Qual Nurs Res;2025 (Jan-Dec);12:23333936251342017.

Loneliness and lack of purpose have a negative impact on well-being for young adults with developmental disabilities (DD) and older adults. Young adults with DD often lack meaningful relationships. While some aspects of well-being remain stable as a person ages, a sense of purpose may decline as life roles diminish. The purpose of this research was to discover ways enhance well-being in adults with DD and older adults through intergenerational interaction. A participatory action research approach was used with qualitative methods that included semi-structured interviews with four young adults with DD and five older adults. Participant observation and field notes were employed to enhance the rigor of the study. A community garden was the environment for intergenerational activities. Through thematic analysis of the data, five themes of well-being were constructed: engagement, positive relationships, accomplishment, meaning and purpose, and positive emotion with elements specific to adults with DD and older adults. The study revealed ways to enlist the wisdom and knowledge of older adults to enhance the well-being of young adults with DD and consequently enhance the well-being of the older adult as well. Implications of this study include employing social capital to improve well-being through synergistic relationships.

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16. Kılıç B, Ünal D, Bingöl ME. Diagnostic persistence, autistic traits, and resilience in youth and adolescents with attention deficit hyperactivity disorder. Turk J Pediatr;2025 (May 4);67(2):208-220.

OBJECTIVE: This study aimed to determine whether children diagnosed with attention deficit hyperactivity disorder (ADHD) continue to receive this diagnosis during adolescence and young adulthood, and to examine the relationships between autistic traits, psychological resilience, emotion regulation levels, and the continuity of diagnosis. METHODS: In the initial evaluations conducted between 2012 and 2013, 121 children diagnosed with ADHD began medication treatment. From this group, 20 participants aged 13 to 25 who agreed to participate in the second evaluation, conducted between 2020 and 2022, were included in this study. The presence of ADHD in their second evaluation was determined using the DSM-5 criteria. Psychiatric comorbidities in adolescents were screened using the Schedule for Affective Disorders and Schizophrenia for School-Age Children – Present and Lifetime Version, 2016 Turkish Adaptation of the DSM-5, while for adults, the DSM-5 criteria were utilized. Parents completed the Social Responsiveness Scale and the Family Assessment Device, while the young participants completed the Child and Youth Resilience Measure and the Difficulties in Emotion Regulation Scale. RESULTS: Among the participants, 10 individuals (50%) continued to have an ADHD diagnosis, exhibiting lower psychological resilience and significantly more autistic traits. No difference in emotional dysregulation was observed between those with and without an ADHD diagnosis, and a negative relationship between autistic traits and psychological resilience was identified. CONCLUSION: The continuity of an ADHD diagnosis during adolescence and young adulthood may be associated with psychological resilience and autistic traits. However, the limited number of participants and the cross-sectional design highlight the need for larger longitudinal studies to further explore the cause-and-effect relationships.

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17. Laguna GGC, Gusmão ABF, Marques BO, Bragas N, Rodrigues IB, Melo RS, de Azevedo KRM. Neuroplasticity in autism spectrum disorder: a systematic review. Dement Neuropsychol;2025;19:e20240182.

The brain’s ability to adapt in response to stimuli is called neuroplasticity. OBJECTIVE: This study investigates neuroplasticity in autistic individuals, focusing on neurobiological aspects, clinical correlations, and therapeutic interventions. METHODS: This systematic review, registered in the International Prospective Register of Systematic Reviews-PROSPERO (ID: CRD42024522425) and guided by Preferred Reporting Items for Systematic Reviews and Meta-Analyses-PRISMA (2020) criteria, searched databases like Web of Science, Scopus, United States National Library of Medicine/ Medical Literature Analysis and Retrieval System Online (PubMed/Medline), Latin American and Caribbean Health Sciences Literature (LILACS), and Scientific Electronic Library Online (SciELO) for original articles published in 2018-2023. RESULTS: Of the 2,316 studies found, 11 were selected, involving 1,943 autistic individuals, both children and adults. Most studies were classified as high/moderate quality using the Newcastle-Ottawa and Jadad scales. Observations included variations in SHANK2 gene expression, lower concentrations of α-synuclein, higher β-synuclein in children with autism spectrum disorder (ASD), correlations between NCAM1 expression and motor skills, and higher brain-derived neurotrophic factor (BDNF) concentration compared to non-autistic children. CONCLUSIONS: Alterations in SHANK2, α-synuclein, β-synuclein, NCAM1, and BDNF in ASD suggest biomarkers and therapeutic targets for more effective interventions, improving care for autistic individuals.

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18. Lee HB, Peña H, Jr., Li YF, Cheak-Zamora N. Integrating Chatbots: Supporting the College Transition for Autistic Students in Texas. J Autism Dev Disord;2025 (Jun 5)

Despite strides in reducing postsecondary enrollment disparities between students with and without disabilities, the transition to postsecondary education remains particularly challenging for students with autism spectrum disorder (ASD). These students encounter unique barriers that necessitate tailored support during the college application process. Advances in artificial intelligence (AI), particularly personalized assistance, offer promising opportunities for enhancing inclusivity in educational counseling. This study explored the application of AI to assist autistic students in navigating the complexities of the college admissions process by examining ADVi, an AI chatbot that communicates through text messages to provide information, suggest actionable steps, and answer college admission-related inquiries. We used a multilevel negative binomial regression model to examine whether autistic students showed a distinct need for AI-based assistance during their transition to higher education. This analysis was based on data from 115,354 college-aspiring students who graduated from public high schools in Texas in 2021, of whom 807 identified as having ASD. Autistic students utilized ADVi significantly more than their typically developing peers, particularly among those with lower prior test achievement (a composite measure based on five state-mandated tests administered during high school). In the bottom tertile of prior test achievement, autistic students sent 132.2% more messages than their peers; the difference was 78.5% in the middle tertile and 36.2% in the top tertile. These results highlight the increased utilization of ADVi by autistic students and suggest a potential need for additional AI tools to facilitate smoother educational transitions for students requiring specialized assistance.

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19. Li R, Ernst J. Identifying associations of de novo noncoding variants with autism through integration of gene expression, sequence, and sex information. Genome Biol;2025 (Jun 4);26(1):156.

BACKGROUND: Whole-genome sequencing (WGS) data has facilitated genome-wide identification of rare noncoding variants. However, elucidating these variants’ associations with complex diseases remains challenging. A previous study utilized a deep-learning-based framework and reported a significant brain-related association signal of autism spectrum disorder (ASD) detected from de novo noncoding variants in the Simons Simplex Collection (SSC) WGS cohort. RESULTS: We revisit the reported significant brain-related ASD association signal attributed to deep-learning and show that local GC content can capture similar association signals. We further show that the association signal appears driven by variants from male proband-female sibling pairs that are upstream of assigned genes. We then develop Expression Neighborhood Sequence Association Study (ENSAS), which utilizes gene expression correlations and sequence information, to more systematically identify phenotype-associated variant sets. Applying ENSAS to the same set of de novo variants, we identify gene expression-based neighborhoods showing significant ASD association signal, enriched for synapse-related gene ontology terms. For these top neighborhoods, we also identify chromatin state annotations of variants that are predictive of the proband-sibling local GC content differences. CONCLUSIONS: Overall, our work simplifies a previously reported ASD signal and provides new insights into associations of noncoding de novo mutations in ASD. We also present a new analytical framework for understanding disease impact of de novo mutations, applicable to other phenotypes.

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20. Liu L, Xie L, Shen Y, Zeng Z, Xu D, Bo L, Wu L, Wu Y, Zhang Y, Wang Y, Pi J, Chen X, Wang R, Yang X, Wei X, Liu H, Tang Y. Reduced exosomal miR-215-5p activates the NEAT1/MAPK1/p-CRMP2 pathway and contributes to social dysfunction in a VPA-induced autism model. Neuropharmacology;2025 (Jun 2);278:110539.

Autism is a prevalent neurodevelopmental disorder characterized by social deficits. Environmental factors, such as prenatal exposure to valproic acid (VPA), are major risk factors for the development of autism in offspring. Environmental epigenetics investigates how environmental factors influence gene expression and function. Exosomal miRNAs carry epigenetic information, but their role in autism remains unknown. Here, we found that prenatal VPA exposure reduced the majority of exosomal miRNA expressions in male newborn amygdala tissue, with exosomal miR-215-5p showing the highest decline. Reduced exosomal miR-215-5p increased neuronal lncRNA NEAT1 expression. Overexpressed neuronal NEAT1 increased the recruitment of the HSP90AB1-MAPK1-CRMP2 complex, which elevated phosphorylated CRMP2 (p-CRMP2) levels. Enhanced p-CRMP2 acted as an « eat me » signal to microglia, resulting in excessive synaptic pruning and aberrant synaptic maturation. Increasing neuronal p-CRMP2 levels via phosphorylation virus T514E or overexpression of MAPK1 promoted microglial synaptic pruning, leading to synaptic defects and social dysfunction. Furthermore, NEAT1 silencing or MAPK1 inhibition reversed the elevated p-CRMP2 levels in VPA-exposed offspring, hence preventing excessive synaptic pruning and social dysfunction. These findings suggested that prenatal VPA exposure reduced exosomal miR-215-5p and activated NEAT1/MAPK1/p-CRMP2 pathway, which resulted in abnormal synaptic development and social interaction disorders.

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21. Maffei MF, Chenausky KV, Tager-Flusberg H, Green JR. An Acoustic Analysis of Speech Motor Performance in Autistic Children. J Speech Lang Hear Res;2025 (Jun 5);68(6):2802-2824.

PURPOSE: Despite known motor and spoken language impairments in autism spectrum disorder (ASD), the motor skills underlying speech production and their relationship with language skills have rarely been directly investigated in this population. METHOD: Thirty-nine autistic children (14 minimally verbal [MV], 25 verbal [V]) and 11 non-autistic [NA]) children aged 4-7 years were audio-recorded producing multiple repetitions of single syllables. Acoustic features quantifying speech precision, coordination, and consistency were compared among groups. Correlations between acoustic speech features and language measures were examined. RESULTS: The MV group showed significant differences from the V and NA groups in speech precision, coordination, and consistency. Across all the ASD children (MV + V), there were significant correlations between numerous acoustic speech features and expressive and receptive language. CONCLUSIONS: These results are an initial step toward establishing acoustic-based speech motor profiles and understanding the connections between motor and language development in ASD. Measures of early oromotor function have the potential to play a role in the early identification of language impairments and in predicting language outcomes in this population. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.29042162.

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22. Mitroulaki S, Merkouris E, Tripsianis G, Kadoglou M, Samakouri M, Serdari A. Psychometric properties of the Greek-language Opinions Relative to Inclusion of Students with Autism Spectrum Disorder scale (ORI-ASD) and Teachers’ Sense of Efficacy Scale – Autism Spectrum Disorder (TSES-ASD). BJPsych Int;2025 (May);22(2):35-42.

BACKGROUND: In recent decades inclusion of children with autism spectrum disorder (ASD) in mainstream settings has gained momentum all over the world. However, teachers’ attitudes to this have an impact on the success of implementing inclusive practices, while their efficacy beliefs are a crucial factor for promoting educational reform. AIMS: To explore the psychometric properties of the Opinions Relative to Inclusion of Students with Autism Spectrum Disorder (ORI-ASD) and the Teachers’ Sense of Efficacy Scale – Autism Spectrum Disorder (TSES-ASD). METHOD: A total of 853 educators (155 preschool teachers, 388 primary school teachers and 310 university students) reported sociodemographic characteristics and completed the ORI-ASD and TSES-ASD, which were Greek-language adapted versions of the Opinions Relative to Integration of Students with Disabilities scale and the Teachers’ Sense of Efficacy Scale. Confirmatory and exploratory factor analyses were conducted. RESULTS: Exploratory and confirmatory factor analyses were performed for the two scales. Confirmatory factor analyses confirmed the three-factor structure of the ORI-ASD and one-factor structure of the TSES-ASD for both pre-service and in service teachers, which show satisfactory psychometric properties. Moreover, the results showed that educators hold moderate self-efficacy beliefs. CONCLUSIONS: The translated and adapted ORI-ASD and TSES-ASD showed good psychometric properties in a Greek sample of teachers and university students. The current study indicates that the ASD-adapted versions of the ORI and TSES are reliable and valid scales for rating pre-service and in-service teachers’ opinions related to perceived self-efficacy and the inclusion of students with ASD. Our findings could have important implications for policy and practice relating to inclusive education.

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23. Narzisi A, Vivanti G, Berloffa S, Milone A, Fantozzi P, Tancredi R, Sesso G, Viglione V, Fabbri Destro M, Pelagatti S, Olivero L, Campatelli G, Pagetti D, Masi G. Sensory processing in autism: a call for research and action. Front Psychiatry;2025;16:1584893.

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24. Nicolaidis C, Scharer M, Raymaker DM, Vera J, Edwards T, Moura I, Baker-Ericzén M, Maslak J, Yang LQ, Kripke-Ludwig R, Kapp SK, Joyce A, Wallington A. Consensus on high-priority outcomes to be used in the evaluation of services for autistic adults: Results from a « CBPR-Nested Delphi Process ». Autism;2025 (Jun 5):13623613251322082.

People are increasingly recognizing the need for service interventions to improve the lives of autistic adults. However, less is known about how to best evaluate such services. We aimed to identify (1) which self-reported outcomes are most important to measure when evaluating the effectiveness of services for autistic adults and (2) what survey instruments would be needed to measure them. We nested a traditional researcher-driven « Delphi process » within our community-based participatory research approach in what we are calling a « CBPR-Nested Delphi Process. » The process allowed us to reach a full consensus among 53 experts with professional and lived experience as autistic adults, family members, health and disability service providers, autism community leaders, and researchers. The final list of outcomes included quality of life, overall health, emotional wellbeing, anxiety, depression, suicidality, autistic burnout, social support, employment satisfaction, community participation, self-determination, access to communication, activities of daily living, satisfaction with social services, and satisfaction with healthcare services. Experts felt almost all available instruments to measure these outcomes would need adaptations to be used with autistic adults (or proxies). Researchers and service providers should consider targeting interventions to these measurable outcomes and evaluating them using instruments that have been co-developed with autistic adults.Lay abstractWhy was this project done?People are starting to recognize the need for services to improve the lives of autistic adults. But less is known about how to best evaluate such services.What were the goals of the project?To identify (1) which outcomes are most important to measure when evaluating the effectiveness of services for autistic adults and (2) how we can successfully measure them using surveys.What did the researchers do?We used a method called a « Delphi process » that gets input from lots of different experts. We used that method inside our own long-standing community-based participatory research (CBPR) process so that we could share power between the academic and community members of our team. We reached a full consensus (agreement) among 53 experts. These experts had professional and/or lived experience as autistic adults, family members, health and disability service providers, autism community leaders, and researchers.What does this study add?The final list of outcomes included quality of life, overall health, emotional wellbeing, anxiety, depression, suicidality, autistic burnout, social support, employment satisfaction, community participation, self-determination, access to communication, activities of daily living, satisfaction with social services, and satisfaction with healthcare services. Experts felt almost all available surveys that try to measure these outcomes would need adaptations to be used with autistic adults (or if needed, with their caregivers).What are the implications?Researchers and service providers should consider targeting services to these outcomes. They should evaluate the effectiveness of services using surveys that have been created with and for autistic adults.

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25. Ontiveros Perez NL, Rios PM, Wang SF, Marchman VA, Aishworiya R, Feldman HM. Positive Autism Screening in Children Born Preterm. J Autism Dev Disord;2025 (Jun 5)

PURPOSE: Autism is more common among children born preterm than children born at term. This study determined the prevalence of positive autism screening among children born preterm and evaluated sociodemographic, clinical, and neurodevelopmental factors associated with positive screens. METHODS: Secondary analyses of data from Lucile Packard Children’s Hospital High Risk Infant Follow-up clinic. Infants born < 32 weeks gestation between 2016 and 2020, who attended the clinic at 18-30 months, were classified into two groups based on results of Modified Checklist for Autism in Toddlers-Revised with Follow-Up (M-CHAT-R/F): positive-screen (score > 2) and negative-screen (≤ 2). We compared sociodemographics, clinical factors, and language development across groups. RESULTS: The prevalence of positive screens was 12.2%. Children in the positive-screen group had lower gestational age, birthweight, and longer hospital stays than children in the negative-screen group (all p <.05). However, in multivariate analysis, gestational age was the only factor significantly associated with positive screens (p =.04). We found no group differences in sociodemographics or medical complications. The positive-screen group had lower mean language scores than the negative-screen group (p <.001). However, 36.6% of children in the negative-screen group also had a language developmental quotient ≤ 85. CONCLUSION: The high prevalence of positive screens reinforces the importance of early screening for autism in preterm children. Gestational age at birth was the primary factor associated with positive screens. Language difficulties were not specific to children with positive screens, highlighting the need for autism screening and routine developmental assessments for preterm children.

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26. Pecci-Terroba C, Lai MC, Lombardo MV, Chakrabarti B, Ruigrok ANV, Suckling J, Anagnostou E, Lerch JP, Taylor MJ, Nicolson R, Georgiades S, Crosbie J, Schachar R, Kelley E, Jones J, Arnold PD, Seidlitz J, Alexander-Bloch AF, Bullmore ET, Baron-Cohen S, Bedford SA, Bethlehem RAI. Subgrouping autism and ADHD based on structural MRI population modelling centiles. Mol Autism;2025 (Jun 4);16(1):33.

BACKGROUND: Autism and attention deficit hyperactivity disorder (ADHD) are two highly heterogeneous neurodevelopmental conditions with variable underlying neurobiology. Imaging studies have yielded varied results, and it is now clear that there is unlikely to be one characteristic neuroanatomical profile of either condition. Parsing this heterogeneity could allow us to identify more homogeneous subgroups, either within or across conditions, which may be more clinically informative. This has been a pivotal goal for neurodevelopmental research using both clinical and neuroanatomical features, though results thus far have again been inconsistent with regards to the number and characteristics of subgroups. METHODS: Here, we use population modelling to cluster a multi-site dataset based on global and regional centile scores of cortical thickness, surface area and grey matter volume. We use HYDRA, a novel semi-supervised machine learning algorithm which clusters based on differences to controls and compare its performance to a traditional clustering approach. RESULTS: We identified distinct subgroups within autism and ADHD, as well as across diagnosis, often with opposite neuroanatomical alterations relatively to controls. These subgroups were characterised by different combinations of increased or decreased patterns of morphometrics. We did not find significant clinical differences across subgroups. LIMITATIONS: Crucially, however, the number of subgroups and their membership differed vastly depending on chosen features and the algorithm used, highlighting the impact and importance of careful method selection. CONCLUSIONS: We highlight the importance of examining heterogeneity in autism and ADHD and demonstrate that population modelling is a useful tool to study subgrouping in autism and ADHD. We identified subgroups with distinct patterns of alterations relative to controls but note that these results rely heavily on the algorithm used and encourage detailed reporting of methods and features used in future studies.

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27. Rakap S, Balikci S. Investigating the Impact of Embedded Learning Opportunities on the Engagement of Children With Autism and Intellectual Disability. J Appl Res Intellect Disabil;2025 (May);38(3):e70073.

BACKGROUND: Engagement is essential for fostering learning and development in young children with disabilities, including those with autism spectrum disorder (ASD) and intellectual disability (ID). METHODS: This study used a non-concurrent multiple-baseline across participants design to examine the effects of embedded learning opportunities (ELOs) on engagement and learning in four preschool-aged children diagnosed with ASD and ID. RESULTS: Results showed a consistent increase in engagement for each child following the introduction of ELOs by teachers, with children generalising this engagement to other settings and sustaining high engagement levels during follow-up. Additionally, enhanced engagement was linked with improvements in independent performance of target behaviours. Social validity data from teachers further supported the intervention’s effectiveness. CONCLUSIONS: These findings highlight ELOs as a promising and individualised approach to enhancing engagement and learning outcomes for preschool children with dual diagnoses of ASD and ID.

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28. Russo N, Cascio CJ, Baranek GT, Woynaroski TG, Williams ZJ, Green SA, Schaaf R. A cascading effects model of early sensory development in autism. Psychol Rev;2025 (Jun 5)

Autism has historically been defined by the presence of differences in social communication and restricted, repetitive patterns of behavior, interests, or activities (RRBs). Since 2013 when the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders was published, sensory features were added as one of the polythetic restricted and repetitive behavior diagnostic criteria of autism, though it has remained understudied. Here, we summarize theory and research to provide support for the perspective that early sensory functions and experiences play a primary role in autism and have downstream effects on social communication and repetitive behavioral features of autism. The goals of this article are to provide an understanding of the current sensory research landscape over the early developmental period; to contextualize our knowledge autism within a developmental framework; to delineate a cascading developmental model that provides testable hypotheses; and to identify current gaps in research that would allow us to further our understanding of the role, and primacy of sensory differences in the development of the autistic phenotype. We close by offering a set of recommendations for the field. (PsycInfo Database Record (c) 2025 APA, all rights reserved).

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29. Schwartzman JM, Kujawa A, Jeste SS, Corbett BA, Xu W, Monachino AD, Castro MA, Cardenas-Quintero K, Dao A, Durazo-Arvizu R, Morales S. Study protocol for a multimethod investigation of the development of social and nonsocial reward responsivity and depression in autistic adolescents: Reward and Depression in Autism (RDA). BMC Psychol;2025 (Jun 4);13(1):603.

BACKGROUND: Autistic adolescents are more likely to experience depression than their non-autistic peers, yet risk factors for depression in autistic adolescents are not well understood. Better mechanistic knowledge of depression in autistic adolescents is critical to understanding higher prevalence rates and developing targeted interventions. Altered reward responsiveness and social processes, as assessed by clinical and neural measures [i.e., electroencephalography (EEG)], are important risk factors for depression in non-autistic adolescents that remain largely unexplored in autistic adolescents, even though autistic people have higher rates of depression, exhibit reward differences, and often experience difficulties in social interactions. Therefore, a multimethod investigation of social and nonsocial reward responsivity and their associations with depression symptoms in autistic adolescents, particularly over time, is needed. METHODS: The current project will employ clinical and neural measures (i.e., interviews, EEG tasks) of social and nonsocial reward responsivity and depression to test associations between these constructs in autistic adolescents for the first time. A clinical sample of 100 autistic adolescents (14-17 years old) without intellectual disability and with varying severity of depression symptoms (at least 50% with current depression) will be recruited. Clinical and neural measures will be administered at two timepoints one year apart. Planned analyses will test cross-sectional and longitudinal relations between clinical and neural measures of reward responsivity and depression symptoms. DISCUSSION: This systematic study of reward responsivity and depression in autistic adolescents is likely to advance our collective understanding of depression in this population by informing risk stratification models and identifying potential intervention targets. Findings may also establish the reliability of several clinical and neural measures of reward responsivity in this population that can eventually be used to measure treatment outcome and identify predictors of treatment response.

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30. Stanfield AC, McKechanie AG. Behavioural difficulties in fragile X syndrome: current pharmacological options and potential future developments. Expert Rev Neurother;2025 (Jun 5):1-11.

INTRODUCTION: Fragile X Syndrome (FXS) is the most frequent inherited form of intellectual disability and a common cause of autism spectrum disorders and other neurodevelopmental conditions. It is commonly associated with hyperarousal, anxiety, and behavioral difficulties such as agitation, self-injurious behavior, and aggression. AREAS COVERED: This narrative review covers the physical, cognitive, and behavioral phenotype associated with FXS and the evidence for pharmacological interventions for behavioral difficulties, including those prescribed on the basis of symptoms and those aimed at the pathophysiological mechanisms of FXS (‘targeted’ interventions). Consideration is then given to the evidence for novel targeted treatments currently in later stages of clinical development. EXPERT OPINION: The first-line management of behavioral difficulties are non-pharmacological interventions, and there are only a few studies in FXS to guide pharmacological approaches. Identification and management of anxiety and ADHD, which contribute to behavioral difficulties, are important steps before considering antipsychotic treatment for agitation, aggression, or self-injurious behavior. The evidence for repurposed targeted treatments remains based on small RCTs or open-label studies; therapeutic trials of these interventions therefore need close monitoring. Multiple novel medications are in clinical development; genetic therapies remain preclinical but are likely to be important in the coming years.

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31. Stankovic I, Smit P, Cross J, Wolujewicz P, Greening D, Colak D. Extracellular Vesicle Profiling Reveals Novel Autism Signatures in Patient-Derived Forebrain Organoids. Res Sq;2025 (May 13)

Autism Spectrum Disorder (ASD) affects 1 percent of the world’s population with an increased prevalence of 178 percent since 2000. Although altered synaptic function putatively accounts for many of the abnormalities seen in ASD, the specific molecular mechanisms underlying this disorder remain poorly defined. A growing body of evidence suggests that extracellular vesicles (EVs), specifically exosomes, play a critical role in cellular communication within the brain. While they have been implicated in various types of diseases from cancer to neurodegeneration, their involvement in ASD remains largely unexplored. In this study, we utilized patient-derived cortical organoid models to characterize EVs secreted by human three-dimensional (3D) tissue and defined their cargo. Our study reports, for the first time, alterations in ASD organoid-derived EVs in comparison to healthy control cortical EVs. By utilizing small RNA sequencing, proteomics, nanoparticle tracking and microscopy, we provide a comprehensive characterization of the cargo carried by EVs secreted from human 3D forebrain models. Our findings reveal substantial differences both in the RNA and protein content of ASD-derived EVs, providing insight into disease mechanisms as well as highlighting the potential of exosome-based diagnostics and therapies for ASD.

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32. Vlasits AL, Syeda M, Wickman A, Laskey E, Guzman P, Schmidt TM. Atypical retinal ganglion cell function in a mouse model of Fragile X syndrome. J Neurosci;2025 (Jun 4)

Altered function of peripheral sensory neurons is an emerging mechanism for symptoms of autism spectrum disorders. Visual sensitivities are common in autism, but whether differences in the retina might underlie these sensitivities is not well understood. This includes Fragile X syndrome, which is the most common syndromic cause of autism. We explored retinal function in the Fmr1 knockout mouse model of Fragile X syndrome. We focused on a specific type of retinal neuron homologous with primate ganglion cells, the « sustained On alpha » retinal ganglion cell, which plays roles in contrast sensing and binocular vision in mice. We found that these cells exhibit changes in dendritic structure and dampened responses to light in male Fmr1 knockout mice. We show that decreased light sensitivity is due to increased inhibitory input and reduced E-I balance. The change in E-I balance supports maintenance of circuit excitability similar to what has been observed in cortex. However, this maintenance also reshapes the tuning of this retinal ganglion cell type. These results show that loss of Fmr1 in the mouse retina affects sensory function of one retinal neuron type. As other retinal cell types also express Fmr1, Fragile X syndrome may affect the tuning of retinal cells more broadly. Our findings suggest that the retina may be relevant for understanding visual function in Fragile X syndrome.Significance statement Atypical sensory processing underlies some symptoms and experiences of people with autism spectrum disorders. These symptoms may include differences in vision, audition and sense of touch. In recent years, evidence has emerged that these differences start with atypical function of neurons in the periphery. However, not much is known about how ASD affects the function of the retina. Here, we explored retinal function in a mouse model of a disease strongly linked to ASD, Fragile X syndrome. Our experiments demonstrate that a cell type in the retina has dampened responses to light in the mouse model of Fragile X syndrome. Our work suggests that atypical processing in the retina may contribute to sensory symptoms in Fragile X syndrome.

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33. Vy M, Dollion N, Pierrot A, Declercq C. Analyzing Emotion Regulation Behaviors in Children and Adolescents with Non-Specific Intellectual Developmental Disabilities (NS-IDDs) During a Game Situation. J Autism Dev Disord;2025 (Jun 5)

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34. Zoppé H, Trocmet L, Rambault A, Abtroun Y, Defresne D, Ansoborlo M, Hazard M, Bonnet-Brilhault F. Early detection of neurodevelopmental disorders in children with delayed milestones: Navigating between overlapping trajectories and the limits of a single-diagnosis categorical approach (A Preliminary Study for the CONDOR Cohort). Asian J Psychiatr;2025 (Jul);109:104561.

CONTEXT: Neurodevelopmental disorders are characterized by motor, language, cognitive, or socio-emotional delays and/or deficits in affected children. However, a categorical view of these disorders leads to a limited understanding of the challenges they pose. METHODS: Among 184 children aged 1-7 years, referred due to concerns about their development and who subsequently received a primary diagnosis of ADHD, ASD, IDD, LD, or DCD following a care pathway in a child psychiatry service, we assessed delays in gross and fine motor skills, language, and socio-emotional development. Delays were assessed based on the child’s age using developmental milestones from the American Academy of Pediatrics. Adjustments were made for age, sex, and medical history. RESULTS: Our findings indicate that children with NDDs exhibit functional overlaps. The number of fine motor delays was comparable among children with ASD, DCD, and IDD. Similarly, language delays did not differ significantly among those with ASD, LD, and IDD. Children with ADHD did not exhibit more fine motor difficulties than those with other diagnoses. Children with IDD were among the most significantly affected across all four evaluated domains. DISCUSSION: These results highlight the intertwined nature of these domains in early neurodevelopment, even though the lack of data on comorbidities significantly limits our conclusions. Nevertheless, it emphasizes the importance of adopting a functional approach to enhance early detection. This also calls into question the relevance of the categorical DSM approach in both clinical practice and research, emphasizing the need to establish a functional classification of delays and deficits.

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