Pubmed du 10/11/25
1. When Autism and Psychosis Intersect with Domestic Violence and Therapy Harm. Narrat Inq Bioeth. 2025; 15(2): 103-5.
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2. Ali D, Bougoure M, Cooper B, Quinton AMG, Tan D, Brett J, Mandy W, Maybery M, Magiati I, Happé F. Burnout as experienced by autistic people: A systematic review. Clin Psychol Rev. 2025; 122: 102669.
‘Autistic burnout’ is described as a debilitating state of exhaustion experienced by autistic people due to living in a world that often lacks accommodations and understanding of their needs. This systematic review thematically synthesised research on how autistic people understand and experience burnout. We reviewed 48 studies (30 qualitative, seven quantitative, and 11 mixed methods), which included approximately 4000 autistic people, predominantly featuring White, female, late-diagnosed autistic adults with at least average intellectual and/or verbal abilities. Our findings suggest that burnout, as experienced by these autistic people, consisted of debilitating exhaustion and increased disability, which could be chronic with intermittent crises. Sensory and social overwhelm, camouflaging, ignorance and stigma, everyday life challenges, and alexithymia contributed to burnout. Burnout held negative consequences for health and well-being, community involvement, and maintaining hope for the future. Having a more accurate framework for self-understanding, meeting the needs for rest, solitude, and sensory relief, and having individual and community support helped with recovery. Addressing burnout effectively will require individual coping strategies, clinical recognition, and broader societal awareness and acceptance of supporting diverse needs and ways of being. Future research should investigate burnout and its associated factors in more representative autistic samples.
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3. Almarzooqi SA, Efstratopoulou M, Habeeb H, Opoku M. Exploring the usefulness of companion pet ownership in the everyday functioning of children with Autism Spectrum Disorder in the United Arab Emirates: A qualitative focus-group study. Res Dev Disabil. 2025; 167: 105154.
PURPOSE: Despite the global recognition of the benefits of companion pet ownership, there is a lack of research exploring this phenomenon in an Arabic-speaking context such as the United Arab Emirates (UAE). This study fills the knowledge gap by exploring the usefulness of pet ownership on the social skills, communication, emotional and physical well-being of children with Autism Spectrum Disorder (ASD) in the UAE. MATERIALS AND METHODS: The study employs a phenomenological research design, utilizing focus-group discussions with 12 mothers of children diagnosed with ASD who own pets. The parents participated in the focus group discussions to understand the usefulness of pet ownership to their children with ASD. RESULTS: Findings are categorized into three primary themes: enhancement of social interaction and communication skills, improvement in emotional well-being, and encouragement of physical activity. For instance, the presence of pets, especially dogs, significantly boosts social engagement and non-verbal communication, reduces anxiety and stress, and increases physical activity among children with ASD. CONCLUSION: Companion pet ownership may inform family-centered routines for children with ASD in the UAE. Future work should assess the feasibility of structured animal-assisted interventions (AAI), which are distinct from household pet ownership.
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4. Bress KS, Quinde-Zilbut J, Zoltowski AR, Convery CA, Lewis B, Rogers BP, Vandekar S, Travers B, Cascio CJ. A sensorimotor basis for facial expressivity differences in autism. Imaging Neurosci (Camb). 2025; 3.
In autism, differences in the appearance, timing, and intensity of facial expressions are a major barrier to social communication. While disrupted sensorimotor feedback has been proposed as a potential contributing factor, the neural pathways linking sensory input to facial motor control are poorly understood even in the general population. In this study, we provide novel characterization of resting-state functional connectivity (rs-FC) between the facial regions of the primary somatosensory (S1) and motor (M1) cortices in both nonautistic and autistic individuals. We identify that rs-FC is somatotopically patterned for the lower but not upper face in both groups, mirroring known anatomical differences in corticomotor inputs to the upper versus lower face musculature. We independently replicate this patterning in a large, open-source neuroimaging dataset. Critically, we demonstrate that upper face actions are selectively diminished in autism, and that the relationship between sensorimotor connectivity and facial behavior diverges between autistic and nonautistic individuals. These findings offer the first direct evidence of a sensorimotor basis for altered facial expressivity in autism, challenging long-held assumptions about the underlying mechanisms of this communication barrier and pointing toward new targets for therapeutic intervention.
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5. Casillas Martinez G, Winder A, Stanley EAM, Souza R, Wilms M, Estes M, MacEachern SJ, Forkert ND. Interpretable convolutional neural network for autism diagnosis support in children using structural magnetic resonance imaging datasets. J Med Imaging (Bellingham). 2025; 12(6): 064501.
PURPOSE: Autism is one of the most common neurodevelopmental conditions, and it is characterized by restricted, repetitive behaviors and social difficulties that affect daily functioning. It is challenging to provide an early and accurate diagnosis due to the wide diversity of symptoms and the developmental changes that occur during childhood. We evaluate the feasibility of an explainable deep learning (DL) model using structural MRI (sMRI) to identify meaningful brain biomarkers relevant to autism in children and thus support its diagnosis. APPROACH: A total of 452 T1 -weighted sMRI scans from children aged 9 to 11 years were obtained from the Autism Brain Imaging Data Exchange database. A DL model was trained to differentiate between autistic and typically developing children. Model explainability was assessed using saliency maps to identify key brain regions contributing to classification. Model performance was evaluated across 20 folds and compared with traditional machine learning models trained with regional volumetric features extracted from the sMRI scans. RESULTS: The model achieved a mean area under the receiver operating curve of 71.2%. The saliency maps highlighted brain regions that are known neuroanatomical and functional biomarkers associated with autism, such as the cuneus, pericalcarine, ventricles, lingual, vermal lobules, caudate, and thalamus. CONCLUSIONS: We show the potential of interpretable DL models trained on sMRI data to aid in autism diagnosis within a narrowly defined pediatric age group. Our findings contribute to the field of explainable artificial intelligence methods in neurodevelopmental research and may help in clinical decision-making for autism and other neurodevelopmental conditions.
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6. Curran P. Embracing Neurodiversity. Narrat Inq Bioeth. 2025; 15(2): 117-22.
This commentary discusses the complexities of neurodivergence and the struggles faced by neuro-divergent individuals and their families. Reflecting on narratives from the journal Narrative Inquiry in Bioethics, I examine the challenges of understanding, acceptance, and advocating for people who are neurodiverse within a neurotypical society. I address such issues as misdiagnosis, lack of diagnosis, and the harmful effects of masking behaviors. I also touch on controversial treatments like Applied Behavior Analysis (ABA), noting its acceptance by many professionals who work with autistic people, but also its criticisms from members of the autism community. I stress the importance of embracing neurodiversity for the health and resilience of society and argue that diversity in nature and human cognition promotes adaptation and survival. Lastly, I highlight the need to remove barriers to healthcare and therapy, support responsible research, encourage continuing education for professionals, and foster neurodiverse relationships. By honoring and protecting diversity, we can strengthen our communities and improve the human experience for everyone.
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7. D’Incal CP, Van Dijck A, Annear DJ, Harutyunyan L, Elinck E, Dingemans AJM, de Vries BBA, Mateiu L, Meuwissen M, Jansen AC, Kooy RF. A frameshift variant in activity-dependent neuroprotective protein (ADNP) causes nucleocytoskeletal alterations in a dizygotic male twin: a case study. Clin Epigenetics. 2025; 17(1): 185.
BACKGROUND: The Helsmoortel-Van der Aa syndrome is an autosomal-dominant neurodevelopment disorder caused by heterozygous de novo variants in the Activity-Dependent Neuroprotective Protein (ADNP) gene, characterized by autism, intellectual disability, dysmorphic facial features, and deficits in multiple organ systems. ADNP is a zinc finger DNA-binding protein that primarily interacts with chromatin remodelers regulating embryonic development, while also associating with components of the cytoskeleton, thereby regulating autophagy and microtubule dynamics during development. In this study, we investigated these nucleocytoskeletal alterations explaining neurodevelopmental delay in a child with Helsmoortel-Van der Aa syndrome who had an unaffected dizygotic twin brother. RESULTS: We performed a genome-wide methylation array on PBMCs from dizygotic twins, showing a predominant CpG hypomethylation episignature. Enrichment analysis of methylated genes revealed significant pathway changes in actin filament organization, Wnt signaling, embryonic development, heart development, and the immune system. In addition, transcriptome sequencing substantiated the affected pathways regulating nuclear and cytoskeletal filamentous alterations associated with autism and neurodevelopmental delay. Brain magnetic resonance imaging showed a mild generalized prominence of the subarachnoid space overlying both hemispheres, revealing intricate patterns of neurodevelopmental delay. CONCLUSIONS: We report the first molecular study performed on dizygotic twins of which one was diagnosed with Helsmoortel-Van der Aa syndrome, revealing Wnt signaling and filamentous cytoskeletal alterations as a potential drug targets for therapy. LIMITATIONS: Indications for neurodegeneration, following these cytoskeletal perturbations, have been observed in cellular and murine models for the Helsmoortel-Van der Aa syndrome. However, clinical evidence remains unclear due to the young age of patients, limiting long-term studies on the aging brain. Further longitudinal imaging studies combined with histopathological autopsy sections are required to study the impact of an ADNP variant in the brain as patients come to age.
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8. de la Peña FR, Ulloa RE, Rosetti MF, Díaz Sánchez R, Soto-Briseño AI, Mayer-Villa PA, Escamilla-Orozco RI, Medina-Rodríguez JC. Sociodemographic, clinical, and global functioning vulnerabilities in Mexican children and adolescents with and without autism spectrum disorders. Int Rev Psychiatry. 2025: 1-13.
Research indicates that sociodemographic, clinical, and global functioning are associated with autism spectrum disorder (ASD). To measure and compare sociodemographic, clinical, and global functioning vulnerability profiles of a sample of Mexican children and adolescents with and without ASD. The study was done at two outpatient institutions in Mexico City. The assessment used semi-structured interviews with rating scales, and t-tests and chi-squared (χ(2)) tests were run to evaluate group comparisons. A latent class analysis was executed to generate probabilistic vulnerability profiles. A total of 103 participants were recruited, 22 with ASD (21.3%, mean age 12.8 ± 3.17, 77.27% male). Those without ASD showed a significantly special education placement (χ(2) = 3.91, p = 0.048), had oppositional and defiant symptoms (t = 3.32, p = 0.001), and lower global functioning as measured by the Children’s Global Assessment Scale (t = 11.78; p = 0.001) and the World Health Organization Disability Assessment Schedule 2.0 (t = -4.10; p = 0.001). Vulnerability was identified in a subgroup of participants with ASD due to increased psychosocial and psychopathological symptoms and lower global functionality. Mexican children and adolescents with ASD experience special education placement and impaired global functioning.
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9. Dolfi A, Faur D, Scălcău MR, Chișcu A, Tudose C. Autism in Adults in Romania: Challenges in Diagnosis and Screening. Alpha Psychiatry. 2025; 26(5): 39058.
BACKGROUND: Due to the absence of validated screening tools for Autism Spectrum Disorder (ASD) in adults without intellectual or language deficits in Romania, clinicians often overlook ASD during evaluations, leading to frequent misdiagnoses. To screen for symptoms of comorbid pathologies in an ASD sample compared with a non-ASD sample using the Psychiatric Diagnostic Screening Questionnaire (PDSQ) and to establish cut-off scores for the Romanian-translated versions of the Autism Quotient (AQ) and Empathy Quotient (EQ). METHODS: The study included 143 participants, 31 diagnosed with ASD and 112 from the general population. Both groups completed the PDSQ, AQ, and EQ. Analyses focused on the factorial structure, reliability, criterion validity, sensitivity, and specificity of the AQ and EQ, as well as correlations between AQ/EQ scores and PDSQ scores. RESULTS: Higher AQ scores were associated with anxiety, trauma, and obsessive-compulsive disorder (OCD) symptoms. A cut-off score of 21 on the AQ accurately classified 100% of clinically diagnosed ASD participants and correctly identified 80% of non-ASD participants, yielding an overall accuracy of 84%. For the EQ, a cut-off score of 26 achieved the highest specificity while maintaining optimal sensitivity, with an overall accuracy of 88%. Both AQ and EQ demonstrated good internal consistency and reliability. CONCLUSION: The Romanian versions of the AQ and EQ are highly reliable screening tools for clinical use. Correlations between AQ scores and elevated anxiety, OCD, and trauma symptoms on the PDSQ highlight the importance of assessing ASD comorbidities during clinical evaluations.
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10. Dowds E, MacWilliam S, Solish A, Osten S, Zwaigenbaum L, Smith IM, Brian JA. A pilot evaluation of the Baby Social ABCs caregiver-mediated intervention for 6-15-month-olds with early signs of autism-feasibility, acceptability, and preliminary evidence. Front Child Adolesc Psychiatry. 2025; 4: 1689781.
BACKGROUND: Autism spectrum disorder (autism) is a neurodevelopmental condition with a high prevalence of approximately 1 in 50 children. Early intervention can support long-term outcomes. Caregiver-mediated interventions (CMIs) are evidence-based and appropriate for toddlers with autism or early social communication challenges. The Social ABCs, one such CMI, is supported by robust evidence. Originally developed for toddlers (12-42 months), it shows potential for supporting social communication development even earlier, i.e., for infants with early signs of autism. The current project adapted the toddler Social ABCs for use with infants (aged 6-15 months) showing early signs of autism or with a confirmed diagnosis. This paper describes the development, acceptability, feasibility, and preliminary outcomes for the Baby Social ABCs. METHODS: Nine infants (aged 6-14 months) participated. Families either self-referred or were referred by community clinicians and were eligible based on age and clinician and/or parent concerns about social communication and/or behavioral differences. Each infant and one of their primary caregivers participated in the 12-week Baby Social ABCs intervention online via Zoom for Healthcare. RESULTS: Caregiver implementation fidelity increased significantly, along with infant responsivity and social communication behaviors (social orienting, shared smiling, and gesturing). The caregivers reported high satisfaction with the coaching approach, session structure, and curriculum. DISCUSSION: This pilot study demonstrated the feasibility and acceptability of the Baby Social ABCs as a novel CMI for infants with signs of emerging autism and showed promising effects on the caregivers’ fidelity and the infants’ social communication and engagement. Future research should consider the optimal timing (or personalized « fit ») for families to access such support to better understand the type and intensity of pre-diagnostic care that best meets families’ diverse needs.
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11. Garrison E, MacNeil S, Hantula DA, West M, Dragut E, Tincani M, Vucetic S. Exploring the challenges and assistive technology for autistic job seekers across employment pathways. Res Dev Disabil. 2025; 167: 105155.
BACKGROUND: When transitioning from high school, autistic job seekers often navigate three different pathways to employment: University, Job Coaching, and Self-Directed (defined as those job seekers who independently complete the job search process, without formal support). Assistive technology may aid job seekers throughout the job seeking process. The aim of this study is to learn more about the challenges and assistive technology that autistic job seekers encounter while navigating these three different employment pathways. METHODS: Qualitative semi-structured interviews were conducted with fifteen stakeholders in the United States, autistic job seekers and support personnel, within each pathway of the hiring process to gather information regarding the challenges autistic job seekers encounter, and the assistive technology they use to address those challenges. RESULTS: From a thematic analysis of these interviews, we found that autistic job seekers along each pathway commonly move through the following, phases of the hiring process or « checkpoints »: resume building, networking, job search, job application, and interviews. Autistic job seekers also face challenges within each checkpoint, such as knowing when and what to disclose; self-efficacy, anxiety, and communication challenges; and a lack of communication from potential employers. We also learned that some self-directed autistic job seekers, when compared to those in the University and Job Coaching pathways, may not be using assistive technologies available in the job search process. From our interviews, we also learned the types of assistive technology that autistic job seekers and assistants use in the job seeking process which can be classified as organizational tools, connectivity tools, and visual media tools. CONCLUSION AND IMPLICATIONS: Our findings revealed a necessity to connect self-directed autistic job seekers to assistive technology available. Based on these results, we present suggestions for future research and design suggestions for developing assistive technology for autistic job seekers. WHAT THIS PAPER ADDS?: We define three career pathways for autistic job seekers: University, Job Coaching and Self Directed. To learn more about the hiring process for autistic job seekers and the assistive technology used within each pathway, we conducted a need-finding study. As a contribution of this study, we discovered challenges along each checkpoint in the hiring process, as well as various forms of assistive technology used to support autistic job seekers when encountering those challenges. For our second contribution, we use the information from these interviews to provide suggestions for the design of future assistive technology within the hiring process, potentially supporting the self-efficacy of autistic job seekers, during this process.
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12. Girolamo T, Escobedo A, Butler L, Larson CA, Campos I, Greene-Pendelton K. The role of social drivers of health in communication abilities of autistic adolescents and young adults. Autism. 2025: 13623613251380448.
Despite their relevance to outcomes in autism, little is known about how social drivers of health affect communication, especially in transition-aged autistic adolescents and young adults with structural language impairment. This knowledge gap limits our understanding of developmental trajectories and the ability to develop supports. This cross-sectional study examined the role of social drivers of health in the communication abilities of autistic individuals ages 13-30. Participants (N = 73) completed language, nonverbal cognitive assessments, and social drivers of health (sense of community, unmet services, barriers to services) measures. Data were analyzed descriptively and using mixed-effects modeling. More unmet service needs, more barriers to services, and a lower sense of community were associated with greater social communication impairment. In turn, both unmet service needs and barriers to services were negatively associated with functional communication. In regression modeling, language scores contributed to functional communication, and sense of community to social communication impairment. Findings support the relevance of language and social drivers of health in communication. Future work should focus on possible bidirectional relationships between these variables and explore and real-world translation.Lay AbstractWhere people live, work, and spend their time is important. Environments can have more or less services or differ in how much they help people feel like they belong to their community. These parts of the environment are called social drivers of health. Social drivers of health are important for outcomes in autism, but we do not know much about them in autistic teens or young adults. We recruited 73 autistic teens and young adults (ages 13-30 years) and 52 caregivers to our study. Autistic teens and young adults did language and NVIQ tests on Zoom. Autistic teens, young adults, and caregivers also answered questionnaires. Sense of community was important for social communication impairment, and language was important for real-world communication. These findings tell us two things. First, thinking about how to create supportive communication environments for autistic teens and adults is important. Second, understanding how social drivers of health shape outcomes is important. In the future, we should focus on how improving environments can help autistic teens and adults meet their communication goals.
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13. Grant A, Axbey H, Holloway W, Caemawr S, Craine M, Lim H, Shaw SCK, Ellis R. Autism and the Menopause Transition: A Mixed-Methods Systematic Review. Autism Adulthood. 2025: 25739581251369452.
BACKGROUND: The menopause transition commonly occurs between the ages of 45 and 55 years. In a general population, hormonal shifts result in a range of biological, psychological, and social changes. Recently, research has begun to focus on Autistic people’s experiences of the menopause. METHODS: We undertook a prospectively registered (PROSPERO: CRD42023450736) systematic review of research and first-hand accounts from grey literature related to Autism and menopause. We utilised the Joanna Briggs Institute convergent integrated synthesis approach. RESULTS: Our search identified eight studies and seven pieces of grey literature, primarily comprising Autistic people. No studies evaluated interventions or provided data from those supporting Autistic people. We developed three themes. First, « knowledge of the menopause transition and peer support » focused on Autistic people’s lack of knowledge of menopause symptoms, including differences for Autistic people, and the role of peer support in obtaining knowledge. Second, « Autistic people’s experiences of menopausal symptoms » describes a broad range of negative symptoms which sometimes had significant impacts on mental health and daily activities. Limited quantitative evidence highlighted increased menopause symptom severity for Autistic people compared to non-Autistic comparison groups. Menopause symptoms impacted on work and relationships, and there was an inter-relationship between menopausal symptoms and Autistic identities. Third, « treatment of menopause symptoms » describes non-medical and medical approaches, including Hormone Replacement Therapy, to reduce symptom impacts. Most reports of medical treatment highlighted barriers to access, or negative experiences of appointments. CONCLUSION: There is a clear need for better menopause supports for Autistic people. This should include Autism-friendly information to increase knowledge of menopause, and how it may impact Autistic people. Corresponding information should also be available for health professionals, with systemic barriers to healthcare also reduced to allow the best chance for Autistic people to receive menopause support. Autism-specific menopause peer support may be worthy of evaluation.
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14. Gullapalli S, Baldado L, Szobody MW, Murambadoro AK, Valdez KG, Bellamkonda A, Gonzalez D, Ghumman U, Anand N, Potter-Baker K, Gadad BS. From molecules to models: A holistic review of autism spectrum disorder mechanisms and research tools. Neurobiol Dis. 2025; 217: 107187.
Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition characterized by persistent deficits in social communication and interaction, as well as restricted, repetitive patterns of behavior, interests, or activities. These features are associated with atypical early brain development and connectivity. While ASD has been traditionally associated with molecular genetic alterations, recent research highlights the significant contribution of various environmental factors to the pathophysiology of the disorder. Pathogenic genetic variations in key regulatory genes remain central to ASD risk; however, environmental influences such as advanced maternal or paternal age, poor maternal health during pregnancy, gestational diabetes mellitus, alterations in the early-life gut microbiome, and other perinatal or early childhood environmental exposures have all been associated with an increased likelihood of developing ASD. This review synthesizes recent advances in our understanding of ASD by providing a comprehensive analysis of the disorder’s diverse pathophysiological mechanisms from multiple perspectives. Specifically, this paper discusses neurophysiological, behavioral, and post-mortem findings, and explores the utility of widely used animal models in ASD research. Particular attention is given to dysregulation of key metabolic pathways and the role of the gut-brain axis in ASD. The review also evaluates both established and emerging pharmacotherapeutic approaches, highlighting significant cellular, histological, and behavioral alterations associated with ASD. Collectively, these insights provide a foundation for developing novel tools to understand the molecular pathways of these genes and its implication of novel therapeutic opportunities for individuals with ASD.
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15. Gupta S, Kopacz KS, Hurdle MFB. Acetaminophen, autism, and analgesia in pregnancy-a pain medicine perspective. Pain Manag. 2025: 1-3.
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16. Hinterberger M. Into My Mirror: A Reflection of Undiagnosed Autism. Narrat Inq Bioeth. 2025; 15(2): 90-3.
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17. Hoyt CR, King AA. The Pediatric Clinician’s Assessment of School Readiness for Children with Sickle Cell Disease: Applying the American Society of Hematology and American Academy of Pediatrics Guidelines. Pediatr Clin North Am. 2026; 73(1): 11-27.
Children with sickle cell disease face heightened risk of developmental delays and cognitive impairments owing to biological and social factors. Developmental delay and cognitive impairments negatively affect educational attainment, health outcomes, and quality of life. The American Society of Hematology and American Academy of Pediatrics have explicit guidelines, to identify and address developmental concerns. Effective collaboration among clinicians, families, and schools ensures optimal support and readiness for academic success. The authors highlight the importance of early developmental surveillance and screening and recommend integrating surveillance and standardized tools, like the Ages and Stages Questionnaire, into routine care.
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18. Hu C, Thrasher J, Li W, Ruan M, Yu X, Paul LK, Wang S, Li X. Speech pattern disorders in verbally fluent individuals with autism spectrum disorder: a machine learning analysis. Front Neuroinform. 2025; 19: 1647194.
INTRODUCTION: Diagnosing Autism Spectrum Disorder (ASD) in verbally fluent individuals based on speech patterns in examiner-patient dialogues is challenging because speech-related symptoms are often subtle and heterogeneous. This study aimed to identify distinctive speech characteristics associated with ASD by analyzing recorded dialogues from the Autism Diagnostic Observation Schedule (ADOS-2). METHODS: We analyzed examiner-participant dialogues from ADOS-2 Module 4 and extracted 40 speech-related features categorized into intonation, volume, rate, pauses, spectral characteristics, chroma, and duration. These acoustic and prosodic features were processed using advanced speech analysis tools and used to train machine learning models to classify ASD participants into two subgroups: those with and without A2-defined speech pattern abnormalities. Model performance was evaluated using cross-validation and standard classification metrics. RESULTS: Using all 40 features, the support vector machine (SVM) achieved an F1-score of 84.49%. After removing Mel-Frequency Cepstral Coefficients (MFCC) and Chroma features to focus on prosodic, rhythmic, energy, and selected spectral features aligned with ADOS-2 A2 scores, performance improved, achieving 85.77% accuracy and an F1-score of 86.27%. Spectral spread and spectral centroid emerged as key features in the reduced set, while MFCC 6 and Chroma 4 also contributed significantly in the full feature set. DISCUSSION: These findings demonstrate that a compact, diverse set of non-MFCC and selected spectral features effectively characterizes speech abnormalities in verbally fluent individuals with ASD. The approach highlights the potential of context-aware, data-driven models to complement clinical assessments and enhance understanding of speech-related manifestations in ASD.
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19. Iftimovici A, Martinez G, Victor J, Bendjemaa N, Jantac C, Danset-Alexandre C, Amado I, Pina-Camacho L, Chaumette B, Fatjó-Vilas M, Fañanás L, Duchesnay E, Krebs MO. Schizophrenia Following Early Adolescence Prodrome: A Neurodevelopmental Subtype With Autism-like Sensorimotor and Social Cognition Deficits. Schizophr Bull. 2025; 51(6): 1581-91.
BACKGROUND AND HYPOTHESIS: While age at onset in schizophrenia (SCZ) is usually defined by age at onset of psychosis, the illness actually occurs earlier, with a prodrome often starting in childhood or adolescence. We postulated that SCZ with early-adolescence prodromes (SCZ-eaP) presents with social cognition deficits and sensorimotor impairments more similar to autism spectrum disorders (ASD) than SCZ with late-adolescence prodromes (SCZ-laP). STUDY DESIGN: The movie for the assessment of social cognition and neurological soft signs (NSS) were compared between four groups, ASD, SCZ-eaP (<15 years), SCZ-laP (>15 years), and controls (N = 119), while accounting for age, sex, intelligence quotient, education level, and medication effect. Mediation analyses tested the effect of NSS on social cognition, across groups, and local gyrification indices were used to test whether NSS reflected deviations in early neurodevelopmental trajectories. STUDY RESULTS: For social cognition and NSS, subjects with ASD were not different from SCZ-eaP, while they differed from SCZ-laP. Age at onset of prodrome correlated with NSS (r = -0.34, P = .018), and social cognition (r = 0.28, P = .048). Neurological soft signs mediated social cognition impairment across diagnoses (β = -1.24, P < 1e-6), and was explained by hypergyrification in the right fusiform gyrus, right frontal pole gyrus, and left postcentral gyrus. CONCLUSIONS: Earlier age of prodrome in SCZ is associated with impaired social cognition, mediated by neurodevelopmentally-related sensorimotor impairments along the ASD-SCZ spectrum. It suggests age of prodrome, rather than the age at psychosis onset, should be considered to define more homogeneous subgroups in SCZ.
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20. Jinhe H, Min L, Jieling W, Shuhua S, Qiaoyun L. Recognition of basic affective prosody in children with autism spectrum conditions: A three-level meta-analysis based on emotional dimension theory. J Commun Disord. 2025; 118: 106589.
The recognition of basic affective prosody in children with autism spectrum condition (ASC) was investigated using a three-level meta-analysis. The analysis focused on emotional dimensions-namely, the three core attributes of emotion (arousal, valence, and dominance)-as well as experimental factors such as chronological age, sample size, stimulus presentation (stimuli with pure prosody or neutral semantic content), and semantic presentation (words and sentences). We examined how these features influenced affective prosody recognition in children with ASC. The meta-analysis comprised 16 empirical studies. A random effect model revealed a small but significant effect size (Hedges’ g = -0.277). Egger’s test and fail-safe N indicated an absence of publication bias. Heterogeneity analysis revealed a significant between-study variability, and no significant within-study heterogeneity was detected. Age, stimulus presentation and semantic presentation method did not significantly account for the observed between-study heterogeneity. However, significant group differences between ASC and typically developing (TD) children emerged when the semantic content was presented in a sentence form. Moreover, valence was a significant moderator. The difference between ASC and TD children was greater for positive-valence than negative-valence emotional expressions. Additionally, group differences were more pronounced for emotional expressions characterized by high arousal and high dominance. Furthermore, children with ASC exhibited greater difficulty recognizing affective prosody embedded in semantically complex contexts. In basic affective prosody recognition, children with ASC appear particularly sensitive to emotional valence. This finding is consistent across cultures. Moreover, the results of the meta-analysis were discussed in relation to the impacts of cue integration, information overload, impaired social cognition, abnormal neural system activation, and the development and accumulation of social experiences on children with ASC.
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21. Kang J, Li Y, Wu J, Mao W, Li X, Li X, Su R. Multiscale static and dynamic brain functional network analysis reveals aberrant connectivity patterns in preschool children with autism spectrum disorder. Behav Brain Res. 2025; 498: 115931.
BACKGROUND: Autism spectrum disorder (ASD) is associated with altered brain functional connectivity, but findings regarding the nature of these abnormalities remain inconsistent, partly due to methodological limitations and the disorder’s intrinsic heterogeneity. This study aims to provide a comprehensive characterization of functional network alterations in preschool children with ASD by integrating low- and high-order functional connectivity (LOFC/HOFC), static and dynamic network analysis, and entropy-based state transition assessment. METHODS: EEG data were collected from 32 children with ASD and 32 typically developing (TD) children during resting state. Static and dynamic LOFC and HOFC networks were constructed across four frequency bands (delta, theta, alpha, beta). Graph theoretical measures (clustering coefficient, characteristic path length, global and local efficiency) and state entropy were computed to assess network organization and dynamic integration-segregation transitions. RESULTS: Compared to TD children, those with ASD exhibited decreased LOFC strength in theta, alpha, and beta bands but increased strength in the delta band. In contrast, HOFC analysis revealed higher connectivity in ASD across delta, theta, and alpha bands. Graph metrics showed significantly lower clustering, efficiency, and higher path lengths in the ASD group, indicating reduced integrative capacity. Dynamic network analysis further revealed altered state entropy in ASD, suggesting impaired flexibility in transitioning between network integration and segregation. These alterations varied across frequency bands and time scales, with distinct patterns between LOFC and HOFC. CONCLUSION: This multiscale approach demonstrates that ASD in early childhood is characterized by both hypo- and hyper-connectivity, disrupted topological organization, and abnormal temporal dynamics in brain networks. The integration of hierarchical connectivity analysis with dynamic measures provides novel insights into the neurophysiological underpinnings of ASD and may inform future biomarker development.
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22. Kay MA, Karaca MA, Çelik OT, Kaçmaz C. Difficulties faced by children with autism spectrum disorders after an earthquake: a study from parents’ perspectives. Sci Rep. 2025; 15(1): 39258.
The February 6, 2023 Kahramanmaraş earthquake severely affected 11 provinces in Türkiye, disrupting services for vulnerable groups. This research aims to examine the difficulties that children diagnosed with Autism Spectrum Disorder (ASD) face in education, health, and social support services from the parental perspective following the earthquakes centered in Kahramanmaraş on February 6, 2023. The research used a basic qualitative research method and semi-structured interviews were conducted with 22 parents residing in Malatya, which was affected by the earthquake. The data obtained were examined with content analysis method. Students diagnosed with autism spectrum disorder have been found to experience significant declines in their educational performance, health routines (in adapting to them) and basic skills such as going to the toilet, eating and self-care. At the same time, parents faced difficulties in accessing health and social services. As a result of the research, it was determined that the interruption of the daily routines of children diagnosed with ASD and their alienation from their social environments after the disaster increased behavioral and emotional problems. It was emphasized that alternative education models should be developed for children diagnosed with ASD during disaster periods and families should be encouraged to take an active role in this process. Following disasters, ABA practices, mobile tools and teletherapy should be integrated into technology-based disaster response policies to continue ASD training and therapy.
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23. Knopes J. Entanglements and Absences: Mental Health in Narratives of Neurodiversity. Narrat Inq Bioeth. 2025; 15(2): 127-32.
This commentary discusses the relationship between neurodiversity and mental health across twelve narratives shared by people with lived experiences of neurodivergence, mainly autism and attention deficit hyperactivity disorder (ADHD). Many authors in this symposium describe the psychological distress they endure as the product of ableism against neurodivergent people, calling us to reflect upon the entangled nature of neurodevelopmental conditions and mental health conditions. Absent in this issue are stories of people whose sole or primary experience of neurodivergence is a mental health condition like bipolar or schizophrenia, and I reflect here on what such missing narratives could teach us about neurodiversity, mental health, and disability.
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24. Lee YL, Shin HI, Bang MS, Shin SH, Kim EK, Lee ES, Jo S, Shin HI, Lee WH. Movement smoothness at term-equivalent age is associated with motor developmental delay in preterm infants. Sci Rep. 2025; 15(1): 39256.
This prospective longitudinal cohort study aimed to quantify limb-movement smoothness at term-equivalent age and investigate whether limb-movement smoothness is associated with motor developmental delay (MDD) in very-preterm or very-low-birth-weight infants. Video recordings of limb movements were obtained at term-equivalent age, and the Bayley Scales of Infant and Toddler Development, Third Edition, was conducted at nine months of corrected age. Upper and lower limb movement smoothness was quantified using a pretrained 2D pose estimator and smoothness indices measured by log dimensionless jerk (LDJ) and spectral arc length (SPARC), with lower LDJ magnitude and less-negative SPARC indicating smoother movement. The quantified movement smoothness was compared between infants with and without MDD. Among 111 infants, 11 (9.9%) exhibited MDD. The LDJ measurements showed significant differences at the right shoulder, elbow, hip, knee, and left elbow between infants with and without MDD (p < 0.05, d ≈ 0.96-1.12). The SPARC measurements showed significant differences at the right shoulder, hip, knee, and left knee between the two groups (p < 0.05, d ≈ 0.64-0.89). The motor composite scores showed significant positive correlations with the absolute values of LDJ and SPARC at the multiple joints. Limb-movement smoothness at term-equivalent age is associated with MDD in very-preterm or very-low-birth-weight infants. Smoothness indices of limb movements can be potentially useful for the early detection of MDD.
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25. Li G, Wei D, Xing Y, Li Y, Song W. Drawing therapy based on embodied cognition theory on emotional expression and social behavior in students with autism: a mixed-methods study. Front Psychol. 2025; 16: 1664699.
OBJECTIVE: Autism spectrum disorder (ASD) is often characterized by deficits in emotional expression and social functioning. Existing interventions tend to emphasize behavioral correction, often overlooking the role of bodily movement in cognitive reconstruction and neglecting the emotional-metaphorical function of cultural symbols that may limit therapeutic effectiveness. METHODS: This mixed-method study randomly assigned 60 ASD students aged 6-19 into an intervention group (n = 30) and a control group (n = 30), which received a 9-week Embodied Cognition-Based Drawing Therapy (EC-DT), or a control group (n = 30) that continued routine training. Assessment tools included psychiatric diagnostic instruments, art-based drawing evaluations, and self-report scales (TSCS, GQOL-74). To complement the quantitative results, qualitative data were collected through semi-structured interviews and analysis of participants’ drawings, enabling a case-based evaluation of the intervention’s effectiveness. RESULTS: Quantitative analyses revealed that the intervention group showed significantly greater improvements than the control group in self-concept (ΔTSCS = 29.37, p < 0.001), social functioning (ΔGAS = 15.6, p = 0.003), and quality of life (ΔGQOL-74 = 21.3, p < 0.001). Qualitative findings identified a "body-media-emotion" pathway, illustrating how participants regulated emotions through tactile engagement (e.g., "feeling emotions flow through the fingertips while drawing circles") and embedded cultural elements (e.g., using red to symbolize warmth) to enhance emotional resonance and social connectivity. CONCLUSION: The EC-DT model significantly improves emotional expression, social behavior, and self-concept among autistic students through multisensory integration and culturally embedded embodied experiences. These findings support the development of localized, culturally responsive intervention frameworks. Further longitudinal research is needed to confirm the durability of these therapeutic effects.
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26. Mansournia MA, Nakhostin-Ansari A, Shayestehfar M, Memari AH. Prenatal Risk Factors of Autism Spectrum Disorder Compared to Congenital Visual and Hearing Loss: A Case-Control Study. Iran J Child Neurol. 2025; 19(4): 53-9.
OBJECTIVES: Relations exist between autism spectrum disorder (ASD) and visual and hearing loss (VL/HL). This study evaluated the prenatal risk factors specific to ASD compared to VL/HL. MATERIALS & METHODS: This case-control study recruited individuals with ASD to compare with individuals with VL/HL as controls from special schools. Parents completed a questionnaire containing questions about demographic characteristics, socioeconomic status, family history of neurological or psychological disorders, and problems during the pregnancy. RESULTS: Five hundred thirty-six participants were enrolled in the study, of which 238 (44.4%) had ASD, 198 individuals had HL (36.9%), and 100 had VL (18.7%). Seven (2.9%) participants in the ASD group were male, significantly (p<0.001) lower than the proportion of males in the HL/VL group (99, 33.2%). In the final regression model, higher educational levels of parents and gestational hypertension were associated with a higher risk of ASD (p<0.05). However, female gender, parents not living together, and cousin marriage were associated with a higher risk of HL/VL (p<0.05). CONCLUSION: This preliminary study determined the factors more associated with ASD than HL/VL. Believably, the study's results could shed more light on the exclusive risk factors of ASD.
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27. Martínez-de Castro S, Bermúdez-Saiz A, Cobo-Sánchez JL. Case report: Autism spectrum disorder as the basis of a feeding problem. A view from nursing care. Enferm Clin (Engl Ed). 2025: 502360.
This case report presents the nursing approach to a 38-year-old woman diagnosed with restrictive-type anorexia nervosa (AN) since the age of 15 and autism spectrum disorder (ASD) at 35. The patient was admitted due to structured suicidal ideation with a high risk of acting on it, triggered by the experience of significant personal losses. A comprehensive assessment was conducted using Gordon’s functional health patterns, identifying the following nursing diagnoses: ineffective health self-management, impaired social interaction, imbalanced nutrition: less than body requirements, and constipation. Additionally, collaborative problems such as insomnia, chronic pain, and suicidal behaviour risk were identified. The care plan was designed following the Nursing Outcomes Classification (NOC) and the Nursing Interventions Classification (NIC), incorporating individualised interventions that included adapting the environment to the sensory and communicative needs associated with ASD, as well as implementing a personalized educational strategy to promote health self-management. After three months of hospitalization, notable improvements were observed in emotional regulation, coping mechanisms, and the resolution of suicidal ideation. Furthermore, a weight gain of 7 kg was achieved, placing the patient within the normal BMI range. This case highlights the importance of specialised mental health nursing care and the need to tailor interventions to comprehensively address the needs resulting from the coexistence of ASD and AN.
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28. Medeiros D, Polepalli L, Li W, Pozzo-Miller L. Altered activity of mPFC pyramidal neurons and parvalbumin-expressing interneurons during social interactions in a Mecp2 mousemodel for Rett syndrome. J Neurophysiol. 2025.
Social memory impairments in Mecp2 knockout (KO) mice result from altered neuronal activity in the monosynaptic projection from the ventral hippocampus (vHIP) to the medial prefrontal cortex (mPFC). The hippocampal network is hyperactive in this model for Rett syndrome, and such atypically heightened neuronal activity propagates to the mPFC through this monosynaptic projection, resulting in altered mPFC network activity and social memory deficits. However, the underlying mechanism of cellular dysfunction within this projection between vHIP pyramidal neurons (PYR) and mPFC PYRs and parvalbumin interneurons (PV-IN) resulting in social memory impairments in Mecp2 KO mice has yet to be elucidated. We confirmed social memory (but not sociability) deficits in Mecp2 KO mice using a new 4-chamber social memory arena, designed to minimize the impact of the tethering to optical fibers required for simultaneous in vivo fiber photometry of Ca(2+)-sensor signals during social interactions. mPFC PYRs of wildtype (WT) mice showed increases in the amplitude of population Ca(2+) signals during explorations of a novel toy mouse and interactions with both familiar and novel mice, while PYRs of Mecp2 KO mice showed smaller population Ca(2+) signals during interactions only with live mice. On the other hand, mPFC PV-INs of Mecp2 KO mice showed larger population Ca(2+) signals during interactions with a familiar cage-mate compared to those signals in PYRs, a difference absent in the WT mice. These observations suggest atypically heightened inhibition and impaired excitation in the mPFC network of Mecp2 KO mice during social interactions, potentially driving their deficit in social memory.
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29. Mencattini A, Curci G, Riccardi A, Casti P, D’Orazio M, Filippi J, Antonelli G, Debbi E, Daprati E, Zhang W, Meng Q, Martinelli E. MEA-Based Graph Deviation Network for Early Autism Syndrome Signatures in Human Forebrain Organoids. Cyborg Bionic Syst. 2025; 6: 0441.
Multi-electrode arrays (MEAs) are a key enabling technology in the development of cybernetic systems, as they provide a means to understand and control the activity of neural populations linking brain microtissue dynamics with electronic systems. MEAs allow high-resolution, noninvasive recordings of neuronal activity, creating a powerful interface for investigating in vitro brain development and dysfunction. In this work, we introduce a novel deep learning framework based on a graph deviation network (GDN) to analyze spiking activity from human forebrain organoids (hFOs) and predict network-level alterations associated with autism spectrum disorder (ASD) risk. Our method extends traditional spike and burst analysis by encoding amplitude-modulated spike trains as dynamic graphs, enabling the extraction of meaningful topological descriptors. These graph-based features are then processed to detect deviations in network organization induced by neurodevelopmental perturbations. As proof of concept, we examine the impact of valproic acid (VPA), a known environmental ASD risk factor. VPA disrupts synaptic signaling in hFOs, reducing efficiency, increasing path length, and decreasing input connectivity. Despite biological variability, the GDN consistently detects early dysfunction within 24 h post-exposure and captures transient millisecond-level events. This supports MEA-coupled hFOs as predictive platforms for ASD risk assessment and real-time neurotoxicity screening.
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30. Metwally AM, Omar TMY, Abdel Raouf ER, Ashaat EA, Elsaeid A, El-Saied MM, Elkhouly AE, Hassan NA, Helmy MA, Goda AA, Abu Zeid D, ElRifay AS, ElDeeb SE, Elshaarawy GA, Sharaf NE. Diagnostic Utility of Hair Toxic Metals in Autism Spectrum Disorder: Unlocking Biomarkers Among Egyptian Children. Biol Trace Elem Res. 2025.
This study aimed to assess the diagnostic utility of hair-based toxic metal profiling in Egyptian children with autism spectrum disorder (ASD). The objectives included establishing population-specific cutoff values for selected metals and examining their correlation with ASD symptom and severity. A national, facility-based comparative study was conducted across eight Egyptian governorates. It included 455 children with clinically confirmed ASD and 230 age- and sex-matched typically developing relatives. ASD diagnoses were established using DSM-5 criteria and the Gilliam Autism Rating Scale, Second Edition (GARS-2). Hair samples were collected and analyzed for five toxic metals; aluminum (Al), arsenic (As), cadmium (Cd), mercury (Hg), and lead (Pb) using inductively coupled plasma mass spectrometry (ICP-MS). Receiver operating characteristic (ROC) curve analysis was applied to determine optimal diagnostic cutoffs. Sensitivity, specificity, and predictive values were calculated. Correlation analyses were conducted to evaluate the association between metal levels and ASD severity. Children with ASD had significantly elevated hair levels of Al, As, Cd, and Pb compared to typically developing controls. Hg levels were statistically insignificant higher in the ASD group. Al showed the strongest diagnostic performance with 89.4% sensitivity and a cutoff ≥ 10.35 ppm. Proposed cutoff values for the other metals were: As ≥ 0.10 ppm, Cd ≥ 0.10 ppm, Hg ≥ 0.31 ppm, and Pb ≥ 1.87 ppm. Only Al levels were positively correlated with ASD severity. Hair-based toxic metal profiling, particularly of Al, may support early ASD risk detection. However, it should be integrated within a broader diagnostic framework that includes clinical, behavioral, and environmental assessments.
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31. Peery E, Singleton AL, Merkison J, Brockman D, Hipp H, Ali N, Lichten L, Allen EG. Improving women’s healthcare providers’ knowledge about fragile X-associated primary ovarian insufficiency through a novel educational tool. J Assist Reprod Genet. 2025.
PURPOSE: Gaps in knowledge among women’s healthcare providers have contributed to diagnostic delays and delayed care for women with fragile X-associated primary ovarian insufficiency (FXPOI). The objective of this study was to assess if an educational tool could improve women’s healthcare providers’ knowledge of FXPOI. METHODS: A one-page educational tool about the premutation and FXPOI was developed. To assess the impact, a pre- and post-intervention survey was given to 95 providers. The post-intervention survey was emailed approximately 1 month after the pre-intervention survey. Surveys consisted of 12 knowledge-based questions (12 points total). Additional information collected included demographics, routine POI workup, comfort level explaining carrier screening results, and feedback on the tool. RESULTS: Provider knowledge significantly improved from 7.34/12 (± 1.75) to 8.66/12 (± 2.30) (p < 0.0001). Significant predictors of pre-intervention knowledge included provider type, specialty, presence of a genetic counselor (GC) in clinic, and graduation year. Physicians outperformed nurse practitioners and nurse midwives (p < 0.0128). Reproductive endocrinologists and maternal-fetal medicine providers outperformed other specialties (p < 0.0001). Providers with a GC in the clinic performed better than those without (p = 0.0128). Providers who graduated between 2010 and 2019 outperformed more recent graduates (p = 0.0348). No significant predictors were identified for post-intervention scores. CONCLUSIONS: The implementation of our novel educational tool led to measurable improvement in provider knowledge regarding FXPOI and the fragile X premutation. The absence of significant demographic predictor variables on the post-intervention survey suggests that the educational tool may help reduce provider gaps in knowledge and ultimately reduce time to diagnosis and improve reproductive care for women with FXPOI.
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32. Rutz C. A Tale of an Autistic Kentucky Colonel. Narrat Inq Bioeth. 2025; 15(2): 112-5.
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33. Selvam B. Autistically Gendered. Narrat Inq Bioeth. 2025; 15(2): 93-5.
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34. Sheikh J, Allotey J, Sobhy S, Plana MN, Martinez-Barros H, Naidu H, Junaid F, Sofat R, Mol BW, Kenny LC, Gladstone M, Teede H, Zamora J, Thangaratinam S. Maternal paracetamol (acetaminophen) use during pregnancy and risk of autism spectrum disorder and attention deficit/hyperactivity disorder in offspring: umbrella review of systematic reviews. Bmj. 2025; 391: e088141.
OBJECTIVE: To assess the quality, biases, and validity of evidence on maternal paracetamol (acetaminophen) use during pregnancy and the risk of autism spectrum disorder (referred to as autism) and attention deficit/hyperactivity disorder (ADHD) in offspring. DESIGN: Umbrella review of systematic reviews. DATA SOURCES: Medline, Embase, PsycINFO, and the Cochrane Database of Systematic Reviews, along with grey literature, Epistemonikos, and the reference lists of included studies (inception to 30 September 2025). INCLUSION CRITERIA: Systematic reviews of randomised trials and cohort, case-control, or cross sectional studies that reported maternal paracetamol use during pregnancy and the diagnosis of autism or ADHD in offspring. Details of the primary studies included in the reviews are reported, including adjustments for key confounders (maternal characteristics, indication for paracetamol use, and familial factors) and unmeasured confounders and ascertainment of outcomes. RESULTS: Nine reviews (40 studies) reporting on autism (six studies) and ADHD (17 studies) in offspring were included. Four reviews undertook meta-analysis. The overlap of primary studies included in the reviews was very high (corrected covered area 23%). The reviews reported a possible to strong association between maternal paracetamol intake and autism or ADHD or both in offspring. Seven of the nine reviews advised caution when interpreting the findings owing to the potential risk of bias and confounding in the included studies. Confidence in the findings of the reviews was low (two reviews) to critically low (seven reviews) based on the AMSTAR 2 (A MeaSurement Tool to Assess Systematic Reviews) criteria. Only one review included studies (n=2) reporting autism and ADHD in offspring that appropriately adjusted for familial factors and unmeasured confounding through sibling controlled analyses. In both studies, the increased risk of autism in offspring (one study, hazard ratio 1.05, 95% confidence interval 1.02 to 1.08) and ADHD (two studies, 1.07, 1.05 to 1.10 and 2.02, 1.17 to 3.25 ) observed in the whole cohort analyses did not persist in sibling controlled analyses for autism (0.98, 0.93 to 1.04) and ADHD (0.98, 0.94 to 1.02 and 1.06, 0.51 to 2.05). CONCLUSION: Existing evidence does not clearly link maternal paracetamol use during pregnancy with autism or ADHD in offspring. SYSTEMATIC REVIEW REGISTRATION: PROSPERO CRD420251154052.
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35. Suprunowicz M, Wińska A, Oracz AJ, Modzelewski S, Konarzewska B, Waszkiewicz N. The role of neurotrophins in sensory processing in autism. Neuroscience. 2025; 587: 90-7.
Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by a wide range of symptoms, including altered sensory processing. Impaired perception and interpretation of sensory stimuli may result from abnormal neuroplasticity and disruptions in neurotrophin signaling. These phenomena play a crucial role in neuronal development and function. Elevated serum levels of brain-derived neurotrophic factor (BDNF) and nerve growth factor (NGF) have been reported in individuals with ASD, while concentrations of neurotrophin-3 (NT-3) and neurotrophin-4/5 (NT-4/5) appear unchanged. However, extant research has not yet examined the relationship between neurotrophin levels and sensory integration deficits, thus indicating a significant gap in the current body of knowledge. The heterogeneity of ASD, encompassing a broad spectrum of symptoms and neuroanatomical alterations, complicates the search for universal biomarkers. Consequently, an analysis of neurotrophin concentrations in relation to specific sensory disturbances and their severity may offer valuable insights. Modulation of neurotrophin signaling has emerged as a promising therapeutic avenue; however, its effectiveness in ASD remains unclear. A paucity of studies has evaluated the potential of neurotrophins as biomarkers for diagnosis or treatment monitoring. Nevertheless, recent advances in biotechnology-including gene therapy, pharmacological agents that enhance neurotrophin release, and non-invasive brain stimulation-offer the prospect of more effective and personalized interventions for ASD. Despite the nascent stage of research in this domain, these approaches hold considerable promise for future autism treatment.
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36. Velinov M. Gene Therapy for Fragile X Syndrome, Challenges, and Promises. J Gene Med. 2025; 27(11): e70049.
Fragile X syndrome (FXS) is the most common single gene cause of inherited intellectual disability and autism spectrum disorder (ASD). FMR1, the gene associated with FXS, is located on chromosome X. Accordingly, males with loss-of-function (full) mutations are more severely affected than females. Strategies for therapeutic intervention for this disorder have included behavioral and medication therapy. To date, no management strategies have been shown to be curative. Gene therapy that aims to supply the functional protein product of the gene FMR1 to the brain is an attractive concept for curative treatment. Experiments aimed at activating the mutant FMR1, modifying its abnormal RNA product, or supplying functional FMR1 copies to the CNS have been conducted. The delivery of the FMR1 gene and its product to animal models of FXS have been primarily conducted with intrathecal applications because of the low efficiency of the gene therapy vectors to cross the blood-brain barrier (BBB). This delivery approach is associated with a higher risk of complications and appears to distribute the gene product unevenly across different brain regions. We have explored the efficiency of a recently developed adeno-associated virus (AAV) vector with increased BBB crossing in certain strains of mice to deliver FMR1 with peripheral IV administration. Our experiments demonstrated very high delivery efficiency and also highlighted the risk of oversupplying the brain with FMRP, the protein product of the FMR1 gene. Other AAV vectors with enhanced crossing of the BBB in primates have been developed, providing an attractive option for further experiments involving peripheral administration. Providing the gene product to specific brain cells remains a difficult challenge for future experiments. It may also be important or even necessary to regulate the gene expression to mimic physiological expression patterns since the levels of FMRP change dramatically during development, with maximum levels early in the postnatal period and a decline across early life. In addition, there are 12 identified mouse isoforms of FMRP due to alternative RNA splicing, and an even higher number of isoforms is found in humans. It may thus be a challenge to determine what FMR1 isoform or set of isoforms would have the optimum efficiency in correcting the phenotype. Despite these challenges, the recent developments establish the basis for future research to develop efficient and minimally invasive gene therapy protocols for FXS.
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37. Wang P, Sun J. A comprehensive review of GABA in autism spectrum disorders: associations, mechanisms, and therapeutic implications. Front Psychiatry. 2025; 16: 1587432.
The etiology and pathogenesis of Autism Spectrum Disorder (ASD) are not yet clear. Gamma-aminobutyric acid (GABA), as an inhibitory neurotransmitter in the brain, is closely related to the pathogenesis of ASD. Animal models and clinical studies of ASD suggest that abnormalities in GABAergic neurons, signaling pathways, and related genes may play an important role in the pathogenesis of ASD, leading to abnormal levels of GABA in the blood and brain tissue of individuals with ASD. Additionally, GABAergic drugs have shown potential to improve ASD symptoms in animal models, but their efficacy and safety in clinical use still need further research. Therefore, this article reviews the relationship between GABA and ASD, as well as the related research on GABA levels and drug treatment, to further explore the pathogenesis of ASD and provide a theoretical basis for the diagnosis and treatment.
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38. Wang X, Lin S, Chen Y, Qi Y, Sun X, Wang W, Jiang K. De novo missense mutation in MYT1l leading to autosomal dominant intellectual disability 39 and autism spectrum disorder: a case report. Front Pediatr. 2025; 13: 1672911.
BACKGROUND: Autosomal dominant intellectual disability type 39 (MRD39; OMIM # 616521) is caused by heterozygous mutation in the MYT1l gene on chromosome 2p25.3. The MYTL1 encoded protein belongs to a novel class of cystein-cystein-histidine-cystein zinc finger proteins that function in the developing mammalian central nervous system. CASE SUMMARY: We report a 1-year-6-month-old girl presenting with global developmental delay (GDD) and autistic behaviors, demonstrating inability to stand independently, crawling mobility, poor response to name calling, and impaired joint attention. Initial developmental assessments yielded a Griffiths Mental Development Scale score of 57 and an ADOS-2 score of 11. Following 20 months of systematic rehabilitative training, the patient achieved independent ambulation, could follow simple commands, and produced phrases under 10 words, though suboptimal response to name calling and joint attention persisted. Re-evaluation showed a Griffiths score of 59 and an ADOS-2 score of 10. Whole-exome sequencing identified a de novo heterozygous missense variant in the MYT1l gene [c.1695G > T; p.(Arg565Ser)]. According to the American College of Medical Genetics and Genomics (ACMG) guidelines, this variant was classified as Likely Pathogenic based on criteria PM6 (de novo status) and PM2 (absence in population databases). Based on the concordant genotype and phenotype, the patient was diagnosed with MYT1l-related neurodevelopmental disorder (MRD39). CONCLUSION: We report a case of MYT1l-related disorder presenting with global developmental delay and features of autism spectrum disorder, associated with the previously documented but functionally uncharacterized c.1695G > T (p.Arg565Ser) variant. This case provides valuable clinical evidence supporting the pathogenicity of this variant and contributes to a deeper understanding of the phenotypic spectrum of MYT1l-related conditions.
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39. West S. Autistische Ausländerin-Finding Comfort in Foreign Cultures. Narrat Inq Bioeth. 2025; 15(2): 98-100.
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40. Wise J. Paracetamol (Tylenol): No clear link between use in pregnancy and autism or ADHD in children, rapid review finds. Bmj. 2025; 391: r2368.
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41. Woeste H, van Agen L, Müller M. Mapping of neuronal redox conditions in a mouse model of Rett syndrome. Neuroimage Rep. 2025; 5(4): 100297.
Rett syndrome (RTT) is associated with a systemic redox imbalance, potentially provoking cellular dysfunction and contributing to some of the disease symptoms. While previous studies have reported these redox alterations also in brain, the exact cerebral redox pattern remains unclear. We therefore generated MeCP2-deficient mice expressing the cytosolic redox sensor roGFPc in excitatory projection neurons. Taking advantage of the earlier developed excitation ratiometric 2-photon imaging, we mapped the redox conditions of individual hippocampal and cortical neurons in acute brain tissue slices of female mice. These quantitative redox analyses revealed clear brain-regional differences in the degree of roGFPc oxidation, with dentate gyrus and CA3 being most oxidized, CA1 being least oxidized and cortical areas presenting intermediate oxidation levels. On postnatal day p50, hardly any RTT-related differences were evident. With maturation (>p100), redox conditions became more reducing in WT females. This was, however, not the case in MeCP2-deficient females, whose hippocampal and especially cortical neurons now appeared clearly more oxidized. By correlative redox microscopy, we succeeded to relate cellular redox-conditions to cellular MeCP2 expression. Validation in CA1 and somatosensory cortex revealed that, based on improved discrimination sensitivity, a more oxidized redox balance became detectable in MeCP2-deficient cortical neurons already on p50. Expression of a mitochondrial catalase efficiently abolished the more oxidizing redox milieu in MeCP2-deficient cortical neurons. This confirms a widespread oxidative burden in forebrain neurons, which manifests already in pre-symptomatic MeCP2-deficient female mice and intensifies with disease progression. Stabilizing mitochondrial function by targeted catalase expression proved potentially protective.
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42. Wulffraat G, Rosta L, Hernández P, Iyer S, Wang L, Brumback A, Pierce J. Autism risk variants in DLG4 ortholog increase penetrance of uncommon individual behavioral trait in Caenorhabditis elegans. MicroPubl Biol. 2025; 2025.
Autism is a largely neurogenetic condition characterized by atypical behaviors, including increased prevalence of motor stereotypies. We used Caenorhabditis elegans to model the T611I variant in the DLG4 ortholog dlg-1 . During phenotyping, we found that some worms intersperse typical dorsoventral swimming bends with left-right bends, resembling an orchestra conductor’s arm motions. Conducting behavior occurred in 30% of wild-type but 50% of dlg-1 mutant worms. The high proportion of conducting in dlg-1 is recessive, rescuable with the wild-type gene, and phenocopied with another DLG4 patient variant. This provides an example of autism variants increasing the proportion of a low-penetrant individual behavior.
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43. Zhang Y, Chen S, Li M, Li B, Lu S, Chan A, Ge H, Tang T, Chen Z. Sung Speech Training Improves Prosodic Focus Marking in a Nondominant Language in Children With Autism Spectrum Disorder. J Speech Lang Hear Res. 2025: 1-21.
INTRODUCTION: Music and speech prosody share notable parallels, and music-based interventions have shown promise in fostering language development and social responsiveness. Song-based training, leveraging acoustic similarities between song and speech, is especially effective. This study examined whether short-term song-based training could enhance prosodic focus-marking in nondominant languages for autistic children. Specifically, it explored improvements in focus-marking strategies, such as on-focus expansion (OFE) and post-focus compression (PFC), and the number of prosodic correlates used. METHOD: A short-term sung speech training intervention was designed, aligning melodic patterns with Mandarin’s prosodic focus marking. Eighteen native Cantonese-speaking children with autism spectrum disorder underwent short-term sung speech training, and their pre- and posttraining performance was compared with two control groups: 18 Cantonese-speaking and 20 Mandarin-speaking typically developing children. Comparisons were made across participant groups as well as within the autistic group before and after the training. RESULTS: Sung speech training improved OFE use, particularly in fundamental frequency range, for noncontrastive focus marking in autistic children. Effects on PFC were less evident, and the training primarily enhanced OFE rather than increasing the number of prosodic correlates used. Control Cantonese-speaking participants showed no comparable improvements. CONCLUSION: These findings highlight the potential of short-term, perception-based sung speech training as a supplementary intervention for improving prosodic focus marking in trilingual autistic children’s nondominant languages, indicating positive cross-domain effects on speech-processing abilities. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.30347731.
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44. Zhou K, Kim J, Choi H. A person-centred, latent profile analysis of assistive technology needs among autistic adults in employment. Disabil Rehabil Assist Technol. 2025: 1-16.
PURPOSE: This study aimed to identify distinct profiles of assistive technology (AT) needs among autistic adults in employment contexts and examine whether these profiles predict differences in life satisfaction. It also explored individual characteristics associated with profile membership. METHODS: A total of 501 autistic adults completed an online survey assessing employment-related AT needs, AT awareness, life satisfaction and demographic characteristics. Latent profile analysis was used to identify subgroups based on AT needs. A Wald chi-square test was conducted to assess whether life satisfaction differed across the identified profiles, and a multinomial logistic regression was conducted to examine predictors of profile membership. RESULTS: Three AT needs profiles emerged: low, mid and high. Life satisfaction significantly differed across profiles, with individuals in the high-needs group reporting greater life satisfaction than those in the mid-needs group. Additionally, greater AT awareness and older age were significant predictors of high-needs profile membership. CONCLUSIONS: Findings suggest that AT needs profiles are meaningfully associated with life satisfaction. Individuals with greater AT needs may be more engaged in identifying support and exercising personal agency, which contributes to well-being. These results underscore the importance of promoting awareness and inclusive AT services to improve life satisfaction among autistic adults in employment. Rehabilitation professionals should conduct comprehensive, person-centred assessments to support autistic adults in using AT across all stages of employment.Increasing awareness of available AT, how to use it and where to access support is essential for improving AT effectiveness.Using AT may reflect autistic adults’ efforts to enhance autonomy and achieve personal goals rather than simply compensate for deficits. eng.
