Pubmed du 16/07/25
1. Neurite density in autism: new lessons from MRI. Neuroscientist;2025 (Aug);31(4):333-334.
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2. Baroncini A, Larrieu D, Bourghli A, Pizones J, Pellisé F, Kleinstueck FS, Alanay A, Charles YP, Roscop C, Boissiere L, Obeid I. Cluster Analysis of a Database of Surgically Managed Adult Spine Deformity (ASD)Patients: Determining the Minimal Clinically Important Difference for Each Cluster, Comparing Two Clustering Approaches. Spine (Phila Pa 1976);2025 (Jul 16)
STUDY DESIGN: retrospective analysis of prospectively collected data. OBJECTIVE: to investigate whether two clustering approaches applied to the same database would lead to differences in the minimal clinical important difference (MCID) for health-related quality of life parameters (HRQoL). SUMMARY OF BACKGROUND DATA: Machine learning approaches are being increasingly employed for the analysis of complex and heterogeneous settings such as that of adult spine deformity (ASD). However, it is not yet clear whether and how the choice of number and type of variables impacts the outcomes of a study. METHODS: Two previously published clustering approaches (C12 and C16) were applied to a multicentric database of ASD patients who underwent surgery and had a minimum follow-up of one year. After clustering, the MCID for the Oswestry Disability Index, SRS-22, and SF-36 PCS were calculated for all clusters using the ROC method. RESULTS: Data from 516 patients were available. Both algorithms led to a division of the database in three clusters, which presented similar characteristics both for C12 and C16. In particular, patients in clusters 1 to 3 presented an increasing level of imbalance and disability. The MCID for ODI, SRS-22, and SF-36 for each cluster differed between C12 and C16, but a similar pattern of increase of the MCID from Cluster 1 to Cluster 3 was observed for all HRQoL parameters and in both C12 and C16. The error rate, however, was smaller for C16. CONCLUSION: Different clustering algorithms applied to the same database allowed to obtain similar clusters of ASD patients. However, the obtained MCIDs for the evaluated HRQoL parameters were different, highlighting the relevance of the choice of variables for the investigation of these parameters. The results suggest that clinically-driven clusters should be used when investigating clinical outcomes, as they allow for a smaller error rate.
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3. Barron DC, Craft MP, Florek ER, Stanley BN, Stoner AM, Paschall NA, Newman S, Tumlin KI. Effects of therapeutic horsemanship on caregiver stress scores of children with autism. Front Psychiatry;2025;16:1574448.
INTRODUCTION: Caregivers (primarily parents) of children with autism spectrum disorder (autism) report higher levels of stress, burn out and depression when compared to caregivers of children without autism. Interventions which incorporate animals have been efficacious in improving well-being for children with autism; however, investigating how caregivers are affected when their children are involved in such programs are a nascent field of inquiry. The objective of this pilot study is to characterize emotional strain and stress in caregivers of children with autism when their child attended a therapeutic horsemanship (TH) program. METHODS: Thirteen caregiver-child dyads completed the study. Utilizing a mixed methods approach, caregivers completed the Depression Anxiety Stress Scale (DASS-21) questionnaire prior to and upon completion of their child’s participation in TH for a 16-week semester. Semi-structured interviews were performed once during the semester and transcripts were analyzed using thematic analysis. RESULTS: We observed caregivers experienced a statistically significant decrease (p=0.03) in their stress levels over a single semester of TH participation demonstrated by a reduction in DASS-21 stress subcategory (pre intervention mean 12.77 (SD = 9.95), post-intervention mean 8.62 (SD = 10.98). A total of five common themes were identified from the caregivers’ interview responses. Of these, four were associated with increased caregiver stress and strain: 1) navigating the care and management of their child’s diagnosis; 2) the lack of resources for their child with autism (CWA); 3) managing finances; and 4) caring for more than one child in their household. In contrast, the fifth theme captured a reduction in caregiver stress and strain secondary to their indirect involvement in TH. DISCUSSION: This pilot study successfully captured the indirect effects of a TH program in caregivers of children with autism. Integral to understanding caregiver stress, this study further characterizes how caregiver emotional stress and strain can be impacted as their child builds life skills in TH.
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4. Burnos AE, Kopacz G. Religiosity of adults on the autism spectrum: a cognitive and empirical analysis. Front Psychiatry;2025;16:1594692.
This article presents a narrative theoretical and empirical review of religiosity in adults on the autism spectrum. Religiosity is defined as an individual set of beliefs and practices proposed by a religious institution or group. This topic is critical for better understanding the religious and spiritual needs of autistic individuals, as well as the barriers they may face in developing and practicing religiosity. Theoretical accounts of the relationship between the social and cognitive characteristics of individuals on the autism spectrum and their religious attitudes and behaviors are examined. These include theory of mind, weak central coherence, executive function deficits, restricted interests, need for predictability, cognitive rigidity, and the broken mirror hypothesis. Alongside these conceptual frameworks, the article reviews findings from nine empirical studies. The emerging picture of religiosity among autistic adults is complex and marked by inconsistency. The central hypothesis-that impairments in mentalizing reduce religiosity-has not been unequivocally supported by empirical evidence. Similarly, results regarding the overall level of religiosity and representations of God in autistic versus neurotypical individuals are inconclusive. The article offers a synthetic overview of existing hypotheses and provides recommendations for the design of future research in this area.
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5. Carta A, Casula L, Manca S, Puci MV, Puseddu G, Fucà E, Sotgiu G, Vicari S, Sotgiu S, Valeri G. Cooperative parent mediated therapy for Italian children with autism spectrum disorder: a clinical experimental study in a community healthcare service in Italy. Front Child Adolesc Psychiatry;2025;4:1544344.
INTRODUCTION: This Clinical Experimental Study aimed to evaluate the effectiveness of Cooperative Parent Mediated therapy (CPMT), a targeted parent-coaching program for Autism Spectrum Disorder (ASD), in Community Healthcare Service in Italy. METHODS: Forty children with ASD and their parents were randomly assigned to treatment conditions: the Control group received Individual Treatment As Usual (TAU Control group); while CPMT group received weekly parent-child sessions in addition to Individual TAU. Primary blinded outcomes were 6-months post-intervention change in parent-child interaction scores. Secondary outcomes included ASD symptom severity, adaptive functioning and parental stress levels. Baseline and post-treatment evaluations, at 6 months of follow up, were performed by an independent team. RESULTS: CPMT group showed significant add-on benefits on parent-child interactions, severity of autism symptoms, adaptive skills and parental stress level. DISCUSSION: This study provides preliminary evidence for the effectiveness of the CPMT model also in community services, representing a further step forward in research on the implementation of therapy for ASD in community healthcare service.
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6. English MC, Poulsen RE, Maybery MT, McAlpine D, Sowman PF, Pellicano E. Psychometric evaluation of the Comprehensive Autistic Trait Inventory in autistic and non-autistic adults. Autism;2025 (Jul 16):13623613251347740.
Measures of autistic traits are only useful – for pre-diagnostic screening, exploring individual differences, and gaining personal insight – if they efficiently and accurately assess autism as currently conceptualised while maintaining psychometric validity across different demographic groups. We recruited 1322 autistic and 1279 non-autistic adults who varied in autism status (non-autistic, diagnosed autistic, self-identifying autistic) and gender (cisgender men, cisgender women, gender diverse) to assess the psychometric properties of the Comprehensive Autistic Trait Inventory, a recently developed measure of autistic traits that examines six trait domains using 42 self-report statements. Factor fit for the six subscales was appropriate, as was total-scale and subscale reliability. Importantly, measurement invariance was demonstrated based on both autism status and gender, indicating that Comprehensive Autistic Trait Inventory scores of these group members can be directly compared. Autistic traits were highly similar between diagnosed and self-identifying autistic adults, while gender-diverse participants showed more autistic traits than their cisgender counterparts. A total-scale discrimination threshold of 147.5 calculated was suggested which corresponded to sensitivity and specificity of 77.20 and 87.41, respectively. Our analysis indicates that the Comprehensive Autistic Trait Inventory is a practical measure of autistic traits in non-autistic and autistic participants that is useful for researchers and clinicians and for affirming self-identity.Lay abstractThe Comprehensive Autistic Trait Inventory (CATI) is a free questionnaire designed to measure autistic traits in both autistic and non-autistic adults. The CATI includes 42 items focusing on six areas: Social Interactions, Communication, Social Camouflage, Self-Regulating Behaviours, Cognitive Flexibility, and Sensory Sensitivity. Here, we set out to determine whether the CATI can accurately measure autistic traits in both autistic (both diagnosed and self-identifying) and non-autistic people, as well as people of different genders. We also wanted to explore the extent to which trait scores differed between these groups of individuals. Our study recruited over 2600 participants, including 1322 autistic and 1279 non-autistic adults. Our findings suggest that the CATI works the way it was designed to. It is a reliable and accurate tool for measuring autistic traits, can distinguish between autistic and non-autistic people, and appears appropriate for people of different genders. Notably, we found that people who self-identify as autistic have similar trait scores to those with a clinical diagnosis of autism and that gender-diverse people scored higher on autistic traits compared to cisgender people. Our data suggest that the CATI is a useful tool for measuring autistic traits in autistic and non-autistic people and for understanding the way that autistic people vary from one another. It should be helpful for researchers and clinicians, and support a public understanding of autism.
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7. Eyring KW, Liu C, Elhajjaoui N, Abuhanna KD, Zhang Y, von Behren Z, Eskin E, Geschwind DH, Luo C. A Single-Cell Atlas of DNA Methylation in Autism Spectrum Disorder Reveals Distinct Regulatory and Aging Signatures. bioRxiv;2025 (Jun 21)
Autism spectrum disorder (ASD) is a common, genetically and clinically heterogeneous neurodevelopmental condition. Despite this diversity, studies of postmortem brain tissue have revealed convergent molecular changes across the cortex, including reduced synaptic function in subsets of excitatory and inhibitory neurons and increased glial reactivity. Whether these features are reflected in cell type-specific epigenetic signatures remains unknown. Here, we present the first single-cell analysis of DNA methylation (DNAm) coupled with transcriptomics in ASD. Using snmCT- seq, we profiled DNAm and gene expression from over 60,000 nuclei across 49 donors. We identified thousands of differentially methylated regions (DMRs) in ASD, enriched in promoters and regulatory elements active during both prenatal development and in adult cortex. ASD-related methylation changes were spatially localized but uncorrelated with gene expression, and were small in magnitude compared to robust age-associated effects. Age-DMRs were concentrated in excitatory neurons, enriched in known cognitive aging pathways, and revealed distinct roles for CG and non- CG methylation in the aging brain. Finally, we explored age-by-diagnosis interactions, identifying a reduction in inhibitory neuron abundance with age in ASD relative to controls, highlighting this area as a promising direction for future research. HIGHLIGHTS: We generate a single cell multi-omic dataset, jointly profiling DNA methylation and gene expression in autistic and neurotypical donorsWe identify thousands of cell type informed differentially methylated regions (DMRs) in ASD, particularly in excitatory neurons from superficial cortical lamina and microgliaASD-DMRs are enriched in promoters and known regulatory regions, but not strongly tied to gene expressionAge effects on DNA methylation are profound, cell type specific, and concentrated in excitatory neurons.
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8. Howland KA, Graham MG, Mentis M. Maximizing Treatment Effectiveness: Six Critical Elements of a Successful Intensive Preschool Language Program for Children With Language Disorders. Lang Speech Hear Serv Sch;2025 (Jul 16);56(3):488-505.
PURPOSE: This clinical focus article examines six critical elements of a successful and evidence-based summer Intensive Preschool Language Program and the lessons learned over the 9 years of its implementation. The program serves a heterogeneous group of children who have been diagnosed with a language disorder, including children with developmental language disorder, children who are dual language learners, and children identified with other associated conditions such as autism spectrum disorder, all of whom share the goal of expanding expressive language skills. METHOD: Each critical element is discussed in terms of its significance to the program’s success, how it has been adapted to better meet the needs of the children based on ongoing observations and progress monitoring, and the key clinical insights gained throughout the program’s duration. RESULTS: We present three case studies illustrating analysis of pretreatment language samples, selection of goals and treatment methods, and documentation of client progress in syntax and narrative development to showcase different profiles of client growth within the program. We provide a comparison of a high- versus low-intensity program and demonstrate that a lower intensity program was effective for children with high self-regulation needs. CONCLUSIONS: The results highlight the value of implementing a child-focused treatment approach, utilizing efficient and targeted language sample analysis to identify goals and monitor progress, the effectiveness of addressing syntax and narrative macrostructure at increasing levels of elaboration and complexity for preschool children, and the importance of aligning program intensity with the child’s self-regulation needs.
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9. Kilmer M, Shah E, Randolph D, Quetsch L. Predictors of caregiver satisfaction with a hybrid care model for autism diagnostic evaluations. J Pediatr Nurs;2025 (Jul 16);85:9-15.
BACKGROUND: Decreased access to diagnostic services is a known barrier in autism care management. Utilizing a hybrid care model incorporating telehealth and face-to-face appointments may be one option to increase access to care. The current study examined caregivers’ satisfaction with a hybrid model used to administer pediatric autism diagnostic evaluations. METHODS: We used a quantitative research design with convenience sampling to administer a telehealth satisfaction survey to caregivers of children living in medically underserved areas who were referred for an autism diagnostic evaluation. Timeliness and accuracy of diagnostic evaluations via the hybrid model were also assessed. FINDINGS: Most caregivers did not report barriers to telehealth, and indicated the hybrid services were either better or equal to traditional appointments. Clinician competence and courtesy, the importance of the child’s care to the staff, and access to telehealth appointments predicted caregiver satisfaction with the hybrid care model. The hybrid care model resulted in improved timeliness, and the accuracy of the evaluation results was verified with those obtained using traditional, face-to-face evaluations. DISCUSSION: A hybrid care model may be a solution to increase access to autism diagnostic evaluations for pediatric patients, especially for those living in medically underserved areas. Clinicians who administer autism screening assessments should consider incorporating telehealth appointments to facilitate pediatric autism diagnostic evaluations. Clinicians referring a patient to a hybrid program should assess for potential factors that would impede the use of telehealth prior to referral.
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10. Kim YK, Park PG. Impact of early life antibiotic exposure on the preschool developmental status: a nationwide population-based study. BMJ Paediatr Open;2025 (Jul 16);9(1)
OBJECTIVE: Growing concerns exist about the potential adverse effects of early antibiotic exposure on neurodevelopmental outcomes. However, large-scale studies exploring these implications in early childhood are rare. DESIGN: A nationwide, population-based retrospective cohort study using data from the Korean National Health Insurance System and the National Health Screening Program for Infants and Children (NHSPIC) between 2015 and 2022. PATIENTS: A total of 1 848 841 children who participated in the NHSPIC at both 4-6 months and 54-60 months of age were included. INTERVENTIONS: Antibiotic exposure under 90 days old. MAIN OUTCOME MEASURES: Developmental delays in preschool-aged children assessed by the Korean Developmental Screening Test at 54-60 month of age. RESULTS: Among the 1 848 841 children assessed, 23% experienced antibiotic exposure within the first 3 months of life. Early use of antibiotics was linked to a slightly elevated risk of developmental delays at a median age of 4.94 years (OR 1.03, 95% CI 1.00 to 1.17), particularly affecting gross motor (OR 1.08, 95% CI 1.04 to 1.13), fine motor (OR 1.09, 95% CI 1.05 to 1.13), cognition (OR 1.08, 95% CI 1.04 to 1.13) and communication (OR 1.08, 95% CI 1.04 to 1.12). A dose-response relationship was also observed, with longer durations of antibiotic exposure associated with an increased risk of developmental delays. CONCLUSIONS: Exposure to antibiotics in infants under 90 days old may be associated with a modest increase in the risk of global developmental delays, especially in motor skills, cognitive functions and communication abilities. Careful consideration is necessary when prescribing antibiotics to this age group.
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11. Laguna GGC, Rodrigues IB, Neves S, Libarino DS, Maciel FBM, Pessoa AG, Santos L, Prado N. Autism Spectrum Disorder in adults: an integrative review about strategies for promotion and maintenance of quality of life. Sao Paulo Med J;2025;143(5):e2024324.
BACKGROUND: People with Autism Spectrum Disorder (ASD) experience phases of life beyond childhood, which increase the difficulties inherent in each cycle. In contrast, the scientific literature lacks broad reviews of developmental strategies regarding quality of life, even though ASD encompasses changes in social, communicative, and behavioral skills. OBJECTIVE: This study aimed to identify strategies for promoting and maintaining quality of life among adults diagnosed with autism. DESIGN AND SETTING: This integrative review was conducted in Brazil. METHODS: This review searched the Scopus and Web of Science databases, from strategies that combined the descriptors (« Autism Spectrum Disorder »), (« Autism »), (« Aging »), and (« Quality of life »). Original studies with the full text available in English published between 2018 and 2023 were included, if they responded to the eligibility criteria. RESULTS: In total, 3,098 studies were identified, of which 44 were selected to compose the bibliographic sample of this review. The population sample included 184,653 participants diagnosed with ASD, aged on average 43.5 years old. The following were described for adults with autism: 1) cognitive aspects, 2) aspects related to suffering/mental illness, and 3) strategies to promote quality of life. CONCLUSION: This research contributes to basic clinical practice and promotes responsible care that attends to the health needs of people with autism throughout life. Early interventions in autistic adults and the availability of support throughout life are essential for maintaining cognitive health and quality of life.
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12. Li Y, Anderson AG, Qi G, Wu SR, Revelli JP, Liu Z, Zoghbi HY. Early transcriptional signatures of MeCP2 positive and negative cells in Rett syndrome. bioRxiv;2025 (Jun 26)
Rett syndrome (RTT) is an X-linked neurological disorder caused by MECP2 mutations. Like other X-linked disorders, RTT patients have sex-specific differences in clinical presentation due to distinct cellular environments, where females have ∼50% of cells expressing either a mutant or wild-type copy of MECP2 (mosaic) and males have 100% of cells expressing a mutant MECP2 (non-mosaic). Typical RTT females have a short window of normal early development until ∼6-18 months, followed by regression and progressive decline, whereas neonatal encephalopathy is more likely in RTT males. How these sex-specific differences in cellular context contribute molecularly to RTT pathogenesis, particularly in the presymptomatic stages of RTT females, remains poorly understood. Here, we profiled the hippocampal transcriptomes of female ( Mecp2 (+/-) ) and male ( Mecp2 (-/y) ) RTT mice at early timepoints using both bulk and single-nucleus RNA-seq, including sorted MeCP2 positive (MeCP2+) and MeCP2 negative (MeCP2-) neurons in female mice. We identified a core disease signature consisting of 12 genes consistently dysregulated only in MeCP2-cells across RTT models. Moreover, we uncovered non-cell-autonomous effects exclusively in female MeCP2+ excitatory neurons, but not inhibitory neurons, suggesting excitatory circuits are more vulnerable early in the mosaic RTT environment. The single-nuclei data also revealed that a previously underappreciated MeCP2-interneuron subtype had the most transcriptional dysregulation in both male and female RTT hippocampi. Together, these data highlight the different effects of MeCP2 loss on excitatory and inhibitory circuits between the mosaic and non-mosaic environment that appear early in RTT pathogenesis.
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13. Luckhardt C, Schütz M, Mühlherr AM, Boxhoorn S, Ecker C, Mössinger H, Siemann J, Schlechter F, Castelo-Branco M, Pereira HC, Latinus M, Ricou C, Bonnet-Brilhault F, Salvador R, Ruffini G, Nowak R, Siniatchkin M, Dempfle A, Freitag CM. Transcranial Direct Current Stimulation of the Temporoparietal Junction in Autism Spectrum Disorder: Results of a Phase-IIa Randomized, Double-Blind, Sham-Controlled Feasibility Study. Autism Res;2025 (Jul 16)
Activation of the temporoparietal junction (TPJ) is reduced in autism spectrum disorder (ASD) during social cognitive tasks. Therefore, anodal transcranial direct current stimulation (tDCS) of the TPJ may enhance social cognitive abilities in autistic individuals. In a multicenter, randomized, sham-controlled, double-blind parallel-group Phase-IIa trial, we investigated feasibility, safety, and effect sizes of 10 sessions of anodal tDCS of the bilateral TPJ at 2 mA as an add-on to computer-based social cognitive training in 10- to 17-year-old youth with autism. Feasibility of recruitment was low, with only 11% of screened individuals being randomized to tDCS (N = 12) or sham (N = 12). In contrast, retention in the study, data collection, intervention adherence, and technical feasibility were mostly excellent. No serious adverse events occurred, and stimulation was well tolerated. There were no differences in the prespecified primary outcome social responsiveness between sham and tDCS immediately after the intervention (standardized estimated effect size [ES] = 0.098; 95%-confidence interval [95% CI] -1.043;1.240), but the sham group showed a trend for better social responsiveness at the 4 week follow-up (ES = 1.106; 95% CI -0.054; 2.270). Secondary outcomes including questionnaires and event-related potentials showed improved compulsive behavior and quality of life by tDCS. High technical feasibility, participant retention, and safety highlight the potential of tDCS in autism and may inform future improvements in the feasibility of recruitment. The differential pattern of effect estimates indicates positive, but also potential negative effects of tDCS, which may vary due to tDCS stimulation parameters. The trial was prospectively registered in the German Clinical Trials Register (Deutsches Register für klinische Studien, DRKS, DRKS00014732).
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14. Sabnis RW. Novel Pyrrolidinyl Derivatives as HCN2 Modulators for Treating Central Nervous System and Psychiatric Disorders, Namely, Autism, Mood Disorders and Schizophrenia. ACS Med Chem Lett;2025 (Jul 10);16(7):1243-1244.
Provided herein are novel pyrrolidinyl derivatives as HCN2 modulators, pharmaceutical compositions, use of such compounds in treating central nervous system (CNS) and psychiatric disorders, namely, autism, mood disorders and schizophrenia, and processes for preparing such compounds.
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15. Sandakly J, Frasca A, Landsberger N. Rett syndrome: a complex disorder with promising therapeutic prospects. Trends Mol Med;2025 (Jul 16)
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16. Song W, Zuo B, Jiang C, Zhang Z. Brain Activity Within Prefrontal Cortex: A Resting-State fNIRS Comparative Study in High-Functioning Autism Preschoolers and Typically Developed Peers. J Biophotonics;2025 (Jul 16):e202500527.
We applied functional near-infrared spectroscopy (fNIRS) technology to detect brain function within the prefrontal cortex in 23 typically developing (TD) preschool children and 48 children with high-functioning autism (HFA), aiming to observe the differences in brain function within the prefrontal cortex between the two groups. We found that the activation degree of channels 6-7-11 corresponding to the activation area of the right prefrontal lobe in the HFA group, is significantly higher than that in the Typical Development TD group. Moreover, the number and intensity of brain functional connectivity in the HFA group are significantly lower than those in the TD group. The active areas of the brain network in the HFA group are not as concentrated as those in the TD group. This demonstrates that fNIRS detection can serve as a potential biomarker for brain activity within the prefrontal cortex of preschool children with HFA.
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17. Wang Y, Chen Z, Song P, Lam GY, Kang X, Wong PCM, Geng X. Diagnosis-informed neuro-subtyping reveals subgroups of autism spectrum disorder with reliable and distinct functional connectivity profiles. Prog Neuropsychopharmacol Biol Psychiatry;2025 (Jul 16):111452.
BACKGROUND: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder characterized by heterogeneous symptoms and neurobiological features, which hinders the identification of reliable biomarkers. Until recently, ASD neuro-subtyping has emerged to detect neural features in each subgroup. METHODS: We implemented neuro-subtyping of ASD using a semi-supervised clustering method, HeterogeneitY through DiscRiminative Analysis (HYDRA), guided by the labeling information of ASD/controls, together with a multi-scale dimension reduction method of high-dimensional input features. Functional connectivity was estimated as neural features for subtyping subjects from a large dataset with ~2000 subjects. Systematic evaluation of clustering performance was conducted and the semi-supervised approach was compared with unsupervised K-means, commonly used for neuro-subtyping, combined with different types of feature reduction methods. RESULTS: We successfully detected two clusters, the hyper-connectivity subtype and hypo-connectivity subtype, each exhibiting distinct connectivity patterns between and within large networks, with high reliability. The semi-supervised clustering approach demonstrated superior performance compared to the unsupervised approach. We observed cluster effect on functional connectivities, for instance, the hyper-connectivity cluster shows hyper-connectivity within major large networks and hyper/hypo-connectivities between networks, such as hyper-connectivity between default mode and attention networks, and hypo-connectivity between default mode and visual/auditory networks. In contrast, the hypo-connectivity cluster displayed the opposite connectivity patterns. Furthermore, we found varying correlations between connectivities and main symptoms of ASD across subtypes. CONCLUSIONS: Our findings indicate that the semi-supervised approach has the potential to subtype ASD into distinct and reliable clusters. The clusters effectively differentiate heterogeneous neural markers based on functional connectivity patterns, meanwhile establish distinct neurobehavioral relationships across each subtype, which is a critical step towards developing individualized diagnosis and treatment strategies in the future.
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18. Wiegand SD, Brown JA, Lieberman-Betz RG. « It’s Not My Journey, It’s Theirs »: Experiences of Part C Providers Screening for Autism. Lang Speech Hear Serv Sch;2025 (Jul 16);56(3):719-729.
PURPOSE: Part C early intervention (EI) providers, including speech-language pathologists, are often involved in autism screening practices and discussing autism with families of toddlers. The purpose of this study was to understand EI providers’ perspectives of screening for autism. METHOD: Using a phenomenological qualitative design, we explored EI providers’ perspectives and experiences related to autism screening and engaging in conversations about autism with families. RESULTS: Findings from semistructured interviews with EI providers revealed themes related to (a) experiences screening for autism and engaging in conversations about autism, (b) interactions with families during autism conversations, and (c) resources and supports for providers and families. CONCLUSION: Findings from this study have implications for professional development and policies surrounding screening for autism in Part C.
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19. Willbrand EH, Maboudian SA, Ludwig JJ, Weiner KS. Anterior cingulate folding pattern is altered in autism spectrum disorder. bioRxiv;2025 (Jun 26)
Neuroimaging research has identified focal differences in the cerebral cortex of individuals with autism spectrum disorder (ASD), particularly in the cortical folds (sulci) within higher-level association cortices. The present study investigated the sulcal patterning and morphology of the anterior cingulate cortex (ACC) in individuals with ASD compared to neurotypical (NT) individuals for the first time. We used neuroimaging data from 50 NT and 50 ASD participants. All participants were under 20 years old and male. The two groups were age-matched. Using established criteria and cortical reconstructions generated from each participant’s T1-weighted magnetic resonance imaging scans with FreeSurfer, we identified the defining sulcal feature of ACC, the variably present paracingulate sulcus (PCGS): its presence in the left and right hemispheres, and asymmetry in PCGS presence between hemispheres. Finally, multiple quantitative morphological features (length, depth, and cortical thickness mean and standard deviation) were extracted from the PCGS using FreeSurfer tools. Analyses revealed that NT participants were more likely to have asymmetrical PCGS patterns than ASD participants (controlling for age and scanner site). However, none of the quantitative morphological features differed between groups. These findings suggest the presence of a variation in the prenatal neurodevelopment of ACC in young males with ASD; however, further research is necessary to uncover the role of this observed difference in the pathogenesis of ASD. The present study also adds to the growing literature implicating variations in PCGS patterning as a trait marker across multiple disorders. LAY SUMMARY: This study found that young males with autism spectrum disorder (ASD) show less hemispheric asymmetry in the presence of a notoriously variable brain structure (paracingulate sulcus (PCGS)) compared to neurotypical individuals. Considering that this feature of the PCGS develops before birth, the reduced asymmetry may indicate focal differences in brain development in ASD. These findings further enhance our understanding of the neurodevelopmental characteristics of ASD and highlight growing findings indicating that the PCGS may be a useful transdiagnostic marker for various psychiatric conditions.
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20. Willems K, Loveall SJ, Goodrich JM, Lang D. Correlation Between Emergent Literacy Skills and Reading Abilities in Young Autistic Children: A Meta-Analysis. Lang Speech Hear Serv Sch;2025 (Jul 16);56(3):847-863.
PURPOSE: Autistic individuals often exhibit poorer emergent literacy skills (e.g., phonological awareness, print knowledge, oral language) relative to their non-autistic peers. Although emergent literacy skills are known to impact future reading success in typical development, their relationship with word recognition and reading comprehension in autistic children remains unclear. The purpose of this meta-analysis was to identify the correlation between emergent literacy skills and reading abilities (i.e., word recognition and reading comprehension) in young autistic children. METHOD: Fourteen correlational studies, including 837 autistic children ranging in age from 28 to 109 months, met the inclusion criteria. Robust variance estimation was used to compute an average weighted effect size, and possible moderator variables were also explored. RESULTS: Results indicated a significant, positive correlation between emergent literacy skills and reading abilities. Moderator analyses indicated that the correlations between emergent literacy and reading ability did not differ based on the type of reading ability (i.e., word recognition vs. reading comprehension) or emergent literacy skill (i.e., code- vs. meaning-based skills). However, IQ was a marginally significant moderator, and the relation between emergent literacy and reading ability was stronger in studies with participants with lower average IQ scores. CONCLUSIONS: These findings have important implications for research and practice for young autistic children. There is a need for educators and other practitioners to (a) assess emergent literacy skills in early childhood to better identify autistic children who are at risk for reading difficulties and (b) actively promote and teach emergent literacy skills in young autistic children, as these skills are related to more advanced reading abilities. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.29231057.
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21. Xiang F, Zhang M, Wei X, Chang J. Gut microbiota composition and phylogenetic analysis in autism spectrum disorder: a comparative study. Front Psychiatry;2025;16:1609638.
BACKGROUND: Autism spectrum disorder (ASD) is frequently associated with gastrointestinal (GI) disturbances, implicating the gut microbiota and its metabolites, short-chain fatty acids (SCFAs), in disease pathology via the gut-brain axis. However, the microbial-SCFA nexus in ASD remains controversial, necessitating integrated analyses to clarify these relationships. This study aimed to investigate intestinal microbiota composition and its potential influence on SCFA production in children with ASD compared to typically developing Control, exploring links to GI symptoms and neurodevelopmental outcomes. METHODS: Fecal samples from 38 ASD children (aged 4-12 years) and 33 age-matched Control were analyzed using 16S rRNA gene sequencing (Illumina MiSeq, V3-V4 region) to assess microbial diversity, taxonomy, and predicted functions (PICRUSt2). Alpha and beta diversity, differential taxa, and metabolic pathways were evaluated with QIIME2, MetagenomeSeq, and LEfSe. SCFA production was inferred based on taxonomic composition and microbial abundance analysis. RESULTS: ASD samples exhibited reduced alpha diversity (Chao1, Observed species, p < 0.05), distinct beta diversity (PERMANOVA, p = 0.001), and taxonomic shifts, with inferred Firmicutes depletion and Bacteroidetes enrichment. Predicted metabolic pathways suggested lower butyrate and higher acetate/propionate production in ASD (p < 0.01). Network analysis revealed diminished microbial connectivity, potentially disrupting SCFA synthesis. CONCLUSIONS: These findings indicate microbial dysbiosis in ASD, likely skewing SCFA profiles toward reduced butyrate and elevated propionate, which may exacerbate GI and neurological symptoms. This supports microbiota-targeted interventions (e.g., probiotics) as potential therapeutic strategies, providing theoretical and data support for further determining the impact of SCFAs on metabolism.
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22. Yaseen M, Alsayed Hassan D, O’Hara L. Sleep patterns in autistic children and adolescents and their caregivers during the COVID-19 pandemic lockdown: A systematic review. Acta Psychol (Amst);2025 (Jul 16);258:105258.
BACKGROUND: Sleep patterns significantly influence health and wellbeing, with disturbances to sleep quality and duration, and increased sleep disorders commonly affecting autistic people. The COVID-19 pandemic lockdown altered daily routines for almost all people, impacting their sleep patterns. AIM: This study aimed to systematically review studies on sleep patterns among autistic children, adolescents, and their caregivers during the COVID-19 lockdown. METHODS: In April 2023, six databases (PubMed, Embase, Web of Science, Scopus, ProQuest Central, and CINAHL) were searched for quantitative and qualitative studies. Data from eligible studies were extracted and analyzed through narrative synthesis. RESULTS: Thirty-four studies were included, with thirty-one focusing on autistic children and adolescents and three on caregivers. Autistic males and mothers were the predominant demographic groups in the studies. The findings regarding sleep quality, duration, and disorders were inconsistent; some studies reported improvements, while others noted worsening sleep or no changes. The most common negative impacts in autistic children and adolescents were decreased sleep quality and an increase in sleep disorders. All caregiver studies indicated significant declines in sleep quality and duration. CONCLUSION: The COVID-19 lockdown adversely affected sleep patterns in many autistic children, adolescents, and their caregivers. To address these challenges during extreme circumstances such as lockdowns, strategies are needed to maintain or improve sleep quality and reduce the risk of negative sleep patterns in these populations.
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23. Zhang C, He Q, Bennett AN, Pu Y, Wang T, Katie Chan KH. Repositioning Drugs for Autism Spectrum Disorder: An Integrated Network Analysis of Blood and Brain Tissue Key Driver Genes. Eur J Pharmacol;2025 (Jul 16):177963.
BACKGROUND: Autism spectrum disorder (ASD) is a complex neurological condition marked by social, communication, and behavioral challenges. Current treatments are limited, with few approved drugs. This study used network analysis of key driver genes from blood and brain tissues to identify potential therapeutic drugs for ASD. METHOD: We examined Gene Expression Omnibus (GEO) data from postmortem brain (GSE28521) and blood leukocyte (GSE42133) samples to find differentially expressed genes. Key driver genes were identified using weighted key driver analysis, supported by literature, knockout mouse model databases, and enrichment analysis. Drug repositioning was performed with PharmOmics and Connectivity Map (CMap) platforms. RESULTS: In blood samples, 204 key driver genes were discovered, associated with cell cycle regulation and stress response. In brain samples, 290 key driver genes focused on ribosomal activity and protein production. An integrated protein-protein interaction (PPI) network identified 16 shared key driver genes, demonstrating common disease signatures including RNA metabolism, protein regulation, SLIT and ROBO signaling, and antiviral pathways. Drug repositioning revealed 23 potential drugs for ASD, with sulpiride and everolimus demonstrating promise, and 19 drugs exhibiting neurological significance, including six with substantial blood-brain barrier permeability. CONCLUSIONS: Our study reveals both tissue-specific and shared molecular signatures of ASD in blood and brain tissues through PPI network analysis. We identified 16 key driver genes and 23 potential therapeutic drugs. Additionally, we discovered twelve novel key driver genes associated with ASD, emphasizing their roles in neurological and immune functions. These findings enhance our understanding of the molecular basis of ASD and suggest new therapeutic possibilities.
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24. Zhong HJ, Pan ZY, Wei YF, Yu Q, Wu L, Wei H, He XX. Tongue-coating microbiota as a predictive biomarker of washed microbiota transplantation efficacy in pediatric autism: integration with clinical features. J Transl Med;2025 (Jul 16);23(1):799.
BACKGROUND: Alterations in both oral and gut microbiota have been identified in children with autism spectrum disorder (ASD), but the interaction between these microbiota and their potential to predict outcomes of fecal microbiota transplantation (FMT) remain poorly understood. METHODS: This study investigated the structure and function of the tongue-coating microbiota in children with ASD and explored its correlation with ASD symptoms and gut microbiota. Germ-free ASD mice, colonized with healthy gut microbiota, and children with ASD treated with washed microbiota transplantation (WMT) were assessed for changes in autism symptoms and microbiota composition. Predictive models were also developed based on pre-treatment tongue-coating microbiota and clinical features to forecast WMT outcomes. RESULTS: Significant alterations were detected in the tongue-coating microbiota of children with ASD, with several bacterial species showing associations with ASD symptoms and gut microbiota composition. Following WMT, both mice and children exhibited substantial improvements in autism-related behaviors, alongside marked shifts in their gut and tongue-coating microbiota. A significant decrease in Haemophilus in the tongue-coating microbiota, which positively correlated with ASD severity, was observed. Additionally, a reduction in chemoheterotrophic and fermentation functions in the tongue-coating microbiota was identified. Predictive models utilizing pre-treatment tongue-coating microbiota and clinical data demonstrated comparable accuracy to those based on gut microbiota for forecasting WMT outcomes. CONCLUSIONS: These findings highlight a significant interaction between gut and tongue-coating microbiota in ASD, which may play a pivotal role in treatment outcomes. Predictive models integrating pre-treatment microbiota and clinical features could improve precision treatment strategies for children with ASD undergoing WMT.
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25. Zoga K, Villiere S, Tikiyani V, Edwards-Cintron AF, Thokachichu P, Nicodemus P, Camara PG, Hart MP. Multiple autism genes influence GABA neuron remodeling via distinct developmental trajectories. bioRxiv;2025 (Jun 27)
Variation in over 100 genes are now associated with increased risk for autism and related neurodevelopmental condition, but how this variation results in distinct and overlapping behavioral changes is still not well understood. Recent efforts have focused on screening many autism genes at once for functional and phenotypic convergence, and identified subsets that are crucial for many early steps of neurodevelopment. Few studies have screened later steps of neurodevelopment, circuit function, circuit plasticity, or behaviors. We screened twenty conserved autism-associated genes for impact on experience-dependent neuron remodeling in C. elegans . Loss of unc-44/ANK2 , set-4/KMT5B, daf-18/PTEN, gap-2/SYNGAP1, and chd-1/CHD8 increased, while CACNA2D3/unc-36 decreased, neurite outgrowth of the GABAergic DVB neuron in adults. Although daf-18/PTEN, set-4/KMD5B, and unc-44/ANK2 had convergent phenotypes, they arise from distinct temporal trajectories with differential impact on DVB pre-synaptic morphology. Screening for the DVB regulated spicule protraction behavior identified multiple autism genes involved, but only unc-44/ANK2 and CACNA2D3/unc-36 were shared between screens. Application of a metric geometry computational framework (CAJAL) to the DVB morphology dataset identified 5 additional genes that impact DVB morphology, including unc-2/CACNA1A and unc-10/RIMS1, which also significantly impacted behavior. This work defines new regulators and molecular mechanisms of experience-dependent neuron remodeling and circuit plasticity, and further links these processes with conserved autism genes. It also demonstrates the utility of using intact, behavior generating circuits in C. elegans , to screen for novel roles for conserved autism genes.