Pubmed du 14/01/25
1. Surgent O, Andrews DS, Lee JK, Boyle J, Dakopolos A, Miller M, Ozonoff S, Rogers SJ, Solomon M, Amaral DG, Nordahl CW. Sex Differences in the Striatal Contributions to Longitudinal Fine Motor Development in Autistic Children. Biol Psychiatry. 2025.
BACKGROUND: Fine motor challenges are prevalent in autistic populations. However, little is known about their neurobiological underpinnings or how their related neural mechanisms are influenced by sex. The dorsal striatum, comprised of the caudate nucleus and putamen, is associated with motor learning and control and may hold critical information. We investigated how autism diagnosis and sex assigned at birth influence associations between the dorsal striatum and fine motor development in autistic and non-autistic children. METHODS: We used multimodal assessment of striatal structures (volume and cortico-striatal white matter microstructure) and longitudinal assessment of fine motor skills, first at approximately 3 years of age (Time 1) and again 2-3 years later (Follow-up). Fine motor and magnetic resonance imaging (T1 and diffusion) data were collected at Time 1 from 356 children (234 autistic; 128 female) and at Follow-up from 195 children (113 autistic; 76 female). RESULTS: At Time 1, associations among fine motor skills, putamen volume, and sensorimotor-striatal fractional anisotropy (sensorimotor-affiliated dorsal striatal structures) were different in autistic boys compared to autistic girls and were not significant for non-autistic children. Further, Time 1 sensorimotor-striatal and prefrontal-striatal microstructure predicted fine motor development for autistic girls but not boys. CONCLUSIONS: Sensorimotor-affiliated dorsal striatum structures may contribute to concurrent motor ability and predict fine motor improvement during critical windows of development in a sex-specific and diagnosis-dependent way. Moreover, the dorsal striatum may play a key role in the distinct neural mechanisms underlying motor challenges in autistic males and females.
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2. Firouzeh P, Hlyva O, Freeman M, Jang H, Di Rezze B. Understanding the experiences of autistic high school students and neurodivergent job coaches in a summer employment program: an interpretive description study. Disabil Rehabil. 2025: 1-9.
PURPOSE: This study explores the experiences of autistic youth and neurodivergent job coaches during a job training program. METHODS: Interpretive Description methodology guided this study. Two researchers facilitated virtual focus groups with autistic students and neurodivergent job coaches separately before (n = 14) and after (n = 12) the program. Thematic analysis was conducted to identify codes and develop themes. RESULTS: Seven themes were developed, which included both autistic high school students and neurodivergent job coaches’ perspectives about JTP: JTP surprised students; unexpected experience of working, students experienced a sense of community support in transitioning to work, students built rapport with neurodivergent job coaches, neurodivergent job coaches were buffers to students, building trusting connection; neurodivergent job coaches’ interactions with students, unexpected reality and a sense of community in coaching autistic students, and neurodivergent job coaches’ personal growth and the evolving role of coaching. CONCLUSION: The findings of this study suggest that positive work experiences and relationships between neurodivergent job coaches and students occurred within a specific program that recommended clear communication about expectations, roles, and support preferences. The findings can guide future community partnerships to promote workplace participation and facilitate accommodations based on the needs of neurodivergent population, including autistic individuals. Providing summer employment opportunities for autistic youth and neurodivergent coaches through Job Train Program (JTP) demonstrated positive outcomes of coaching that promoted inclusivity for the neurodivergent population at different stages of career paths.JTP provided the opportunity to broaden the coaching role within the program, enhancing an inclusive workplace for both neurodivergent job coaches and students transitioning to adulthood.The results of this study outlined the importance of coaches in addition to environmental support. eng.
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3. Fazioli L, Hadad BS, Denison RN, Yashar A. Suboptimal but intact integration of Bayesian components during perceptual decision-making in autism. Mol Autism. 2025; 16(1): 2.
BACKGROUND: Alterations in sensory perception, a core phenotype of autism, are attributed to imbalanced integration of sensory information and prior knowledge during perceptual statistical (Bayesian) inference. This hypothesis has gained momentum in recent years, partly because it can be implemented both at the computational level, as in Bayesian perception, and at the level of canonical neural microcircuitry, as in predictive coding. However, empirical investigations have yielded conflicting results with evidence remaining limited. Critically, previous studies did not assess the independent contributions of priors and sensory uncertainty to the inference. METHOD: We addressed this gap by quantitatively assessing both the independent and interdependent contributions of priors and sensory uncertainty to perceptual decision-making in autistic and non-autistic individuals (N = 126) during an orientation categorization task. RESULTS: Contrary to common views, autistic individuals integrated the two Bayesian components into their decision behavior, and did so indistinguishably from non-autistic individuals. Both groups adjusted their decision criteria in a suboptimal manner. LIMITATIONS: This study focuses on explicit priors in a perceptual categorization task and high-functioning adults. Thus, although the findings provide strong evidence against a general and basic alteration in prior integration in autism, they cannot rule out more specific cases of reduced prior effect – such as due to implicit prior learning, particular level of decision making (e.g., social), and level of functioning of the autistic person. CONCLUSIONS: These results reveal intact inference for autistic individuals during perceptual decision-making, challenging the notion that Bayesian computations are fundamentally altered in autism.
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4. Tao R, Yang Y, Wilson M, Chang JR, Liu C, Sit CHP. Comparative effectiveness of physical activity interventions on cognitive functions in children and adolescents with Neurodevelopmental Disorders: a systematic review and network meta-analysis of randomized controlled trials. Int J Behav Nutr Phys Act. 2025; 22(1): 6.
BACKGROUND: Physical activity (PA) interventions have been shown to yield positive effects on cognitive functions. However, it is unclear which type of PA intervention is the most effective in children and adolescents with Neurodevelopmental Disorders (NDDs). This study aimed to compare the effectiveness of different types of PA interventions on cognitive functions in children and adolescents with NDDs, with additional analyses examining intervention effects across specific NDD types including attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). METHODS: In this systematic review and network meta-analysis, seven databases (Web of Science, PubMed, Medline, APA PsycINFO, Embase, CINAHL, and SPORTDiscus) for randomized controlled trials from database inception to September 2023 were searched. Randomized controlled trials comparing the effectiveness of PA intervention with any non-pharmacological treatment or control group on cognitive functions in children and adolescents diagnosed with NDDs aged 5-17 years were included. Frequentist network meta-analyses were performed based on standardized mean differences (SMD) using random effects models to examine post-intervention differences in cognitive functions, including attention, memory, and executive functions. Intervention dropout was assessed as a measure of treatment acceptability. RESULTS: Thirty-one randomized controlled trials (n = 1,403, mean age 10.0 ± 1.9 years) with 66 arms were included in the network. Mind-body exercise (MBE; SMD = 1.91 for attention; 0.92 for executive functions), exergaming (SMD = 1.58 for attention; 0.97 for memory; 0.94 for executive functions), and multi-component physical activity (MPA; SMD = 0.79 for executive functions) were associated with moderate to substantial cognitive improvements compared with usual care, whereas the effectiveness of aerobic exercise (AE) was non-significant. Exergaming (SMD = 0.78, 95%CI 0.12 to 1.45) and MPA (SMD = 0.64, 95%CI 0.11 to 1.18) were more effective than AE for executive functions. When analyzing specific NDD types, exergaming lost its superiority over usual care for attention and memory in ADHD, nor for executive functions in ASD. Instead, MPA demonstrated significant benefits across these domains and populations. The certainty of evidence for these comparisons was very low to low. No significant differences in acceptability were observed among MBE, exergaming, and MPA. CONCLUSIONS: The findings in this study suggest that MBE, exergaming, and MPA were effective interventions for improving domain-specific cognitive functions in children and adolescents with NDDs. AE demonstrated non-significant effectiveness for all outcomes. MBE emerges as particularly advantageous for attention. MPA yielded consistent improvements in memory and executive functions across NDD types. Further high-quality randomized controlled trials of direct comparisons are needed to confirm and expand on the findings from this NMA. TRIAL REGISTRATION: PROSPERO CRD42023409606.
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5. Dell’Osso L, Amatori G, Bonelli C, Nardi B, Massimetti E, Cremone IM, Pini S, Carpita B. Autism spectrum disorder, social anxiety and obsessive-compulsive disorders: beyond the comorbidity. BMC Psychiatry. 2025; 25(1): 37.
OBJECTIVE: Autism spectrum disorder (ASD) is characterized by high rates of comorbidity with other mental disorders, including anxiety disorders and obsessive-compulsive disorder. Beyond a mere concept of comorbidity, recent literature is speculating the existence of a neurodevelopmental nature of such mental disorders. The aim of the study is to investigate the distribution of social-phobic, obsessive-compulsive and panic-agoraphobic traits within a sample of individuals with ASD, social anxiety disorder (SAD), obsessive-compulsive disorder (OCD) and panic disorder (PD). METHODS: 40 participants with ASD, 40 with SAD, 40 with OCD, 40 with PD and 50 HC were assessed with the Social Anxiety Spectrum-Short Version (SHY-SV) questionnaire, the Obsessive-Compulsive Spectrum-Short Version (OBS-SV) questionnaire and the Panic Agoraphobic Spectrum-Short Version (PAS-SV) questionnaire. Statistical analyses included Kruskal-Wallis test and Chi-square test. RESULTS: When analyzing SHY-SV scores, the SAD group obtained the highest scores, with individuals with ASD following closely, significantly surpassing the scores of the remaining diagnostic groups. In the examination of OBS-SV questionnaire scores, individuals with ASD once again secured the second-highest scores, trailing only the OCD group. These scores were notably higher than those of both the PD group and healthy controls. In the analysis of PAS-SV scores, the ASD group once again achieved the highest scores after the PD individuals, although this time the difference was not statistically significant compared to the other diagnostic groups. DISCUSSION: These findings highlight the central role of the autism spectrum in SAD and OCD diagnoses. They provide support for the hypotheses of a neurodevelopmental basis for social anxiety and OCD, contributing to the growing body of evidence supporting a dimensional and interconnected view of mental health conditions.
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6. Fernandes M, Matuskova O, Babelova R, Santosa WB, Shaw O, Hrica P. A community-based intervention (the Omama Project) improves neurodevelopment in impoverished 2-year-old Roma children: a quasi-experimental observational study. Eur J Pediatr. 2025; 184(2): 133.
High rates of childhood neurodisability are reported among the Roma, Europe’s largest ethnic minority community. Interventions targeting early child development (ECD) during the first 2 years of life can improve neurodevelopmental outcomes in vulnerable children; however, evidence from Roma preschoolers is scarce. In a quasi-experimental observational study, we compared neurodevelopmental outcomes at age 2 years, measured on the INTERGROWTH-21st Project Neurodevelopmental Assessment (INTER-NDA), between Roma children receiving a community-based ECD intervention (RI, n = 98), and age- and sex-matched Roma and non-Roma children (RC, n = 99 and NRC, n = 54, respectively) who did not receive the intervention in Eastern Slovakia. The intervention was delivered between 3 weeks and 20 months in weekly home-based sessions by trained Roma women from matched settlements to RIs. Compared with RC, RI had higher 2-year cognitive (B = 0.15; 95% CI, 0.04, 0.25), language (B = 0.25; 95% CI, 0.11, 0.38) and fine motor (B = 0.08; 95% CI, 0.01, 0.16) scores. After adjustment for covariates, cognitive delay decreased by 88% in RI compared with RC (aOR, 0.12; 95% CI, 0.03, 0.53). Linear growth at 24 months was a key predictor of developmental scores for both groups (range, B = 0.04-0.14; 95% CI, 0.01, 0.07 and 0.09, 0.20). CONCLUSIONS: Our results highlight that, without directly intervening on nutritional and poverty status, a community-based ECD intervention, delivered by trained Roma women to Roma children, can significantly improve neurodevelopmental outcomes at age 2 years. WHAT IS KNOWN: • The Roma are Europe’s largest ethnic minority. High rates of neurodisability, malnutrition and poverty are reported in Roma preschoolers. • Optimal early child development (ECD) is foundational to lifecourse health and wellbeing. Early interventions improve ECD outcomes in vulnerable children; however, evidence from Roma communities is limited. WHAT IS NEW: • The Omama project is a community-based ECD intervention, delivered by trained Roma women to Roma children aged 3 weeks to 20 months living in impoverished settlements in Eastern Slovakia. • Roma children receiving the intervention had (i) higher cognitive, language and fine motor scores and (ii) lower rates of cognitive delay compared with controls.
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7. Gorlewicz A, Kanpska E. Different faces of autism: Patients with mutations in PTEN and FMR1 genes. Acta Neurobiol Exp (Wars). 2025; 84(4): 352-8.
Autism spectrum disorder (ASD) is among the most common neurodevelopmental conditions in humans. While public awareness of the challenges faced by individuals with autism is steadily increasing, the underlying causes of abnormalities observed in ASD remains incompletely understood. The autism spectrum is notably broad, with symptoms that can manifest in various forms and degrees of severity. Core features of ASD, such as communication difficulties, impaired social interactions, and restricted patterns of behavior, interests, and activities, are often accompanied by other co‑occurring conditions, such as anxiety. ASD affects individuals regardless of gender, race, or ethnicity. Although we are currently unable to pinpoint a single definitive cause of autism, it is clear that genetics play a crucial role in its development. The first genes associated with an increased risk for ASD were discovered in rare monogenic disorders, such as fragile X syndrome (FXS), caused by mutations in the fragile X messenger ribonucleoprotein 1 (FMR1) gene, and macrocephaly, linked to mutations in the phosphatase and tensin homolog (PTEN) gene. This review aims to summarize the current knowledge of ASD in patients with mutations in the FMR1 and PTEN genes.
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8. Crotti M, Ortibus E, Ben Itzhak N, Kleeren L, Decraene L, Leenaerts N, Feys H, Mailleux L. Erratum to « The relation between visual functions, functional vision, and bimanual function in children with unilateral cerebral palsy » [Research in Developmental Disabilities 152 (2024) 104792]. Res Dev Disabil. 2025; 157: 104920.
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9. Pellegrini E, Scarpelli S, Alfonsi V, Gorgoni M, Pazzaglia M, De Gennaro L. Behind Closed Eyes: Understanding Nightmares in Children and Adolescents with Autism Spectrum Disorder – A Systematic Review. Neurosci Biobehav Rev. 2025: 106012.
INTRODUCTION: Brain and sleep development in childhood shapes emotional and cognitive growth, including the ability to recall dreams. In line with the continuity hypothesis of dreaming, several findings suggest a link between clinical symptoms and nightmare frequency. Sleep disorders and anxiety are among the most frequently co-occurring conditions in children and adolescents with autism spectrum disorder (ASD). However, their impact on nightmares has not yet been systematically explored. This review aims to address this research gap by investigating nightmares in autism and their influence on clinical symptoms and cognitive functioning. METHODS: The literature was searched utilizing the databases PubMed, PsycINFO, Web of Science, and Scopus, following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. The included studies were assessed for methodological quality. RESULTS: Twenty-nine papers were reviewed. The prevalence of nightmares occurring very frequently was below 5%, with no significant difference in nightmare prevalence between children with ASD and their healthy peers. Furthermore, several findings reported a relationship between nightmares and other sleep disturbances among individuals with ASD. DISCUSSION: The study of dreaming in ASD may provide valuable insights into the disorder. Although comorbid sleep disorders can influence nightmare frequency, the results of this review suggest that nightmares may not represent a distinctive feature of ASD. However, poor communication and introspection skills may explain the difficulties in reporting dream experiences. Given the preliminary nature of current research on nightmares in ASD, further studies are essential to overcome existing limitations and deepen our understanding.
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10. Jeong Y, Kim MW, Lee SG, Park S, Jeong KS, Lee YH, Lee S, Chung HM, Kim J, Kim CY. Therapeutic effects of CGS21680, a selective A(2A) receptor agonist, via BDNF-related pathways in R106W mutation Rett syndrome model. Biomed Pharmacother. 2025; 183: 117821.
Rett syndrome (RTT) is a neurological disorder caused by a mutation in the X-linked methyl-CpG binding protein 2 (MECP2), leading to cognitive and motor skill regression. Therapeutic strategies aimed at increasing brain-derived neurotrophic factor (BDNF) levels have been reported; however, BDNF treatment has limitations, including the inability to penetrate the blood-brain barrier, a short half-life, and potential for adverse effects when administered via intrathecal injection, necessitating novel therapeutic approaches. In this study, we focused on the adenosine A(2A) receptor (A(2A)R), which modulates BDNF and its downstream pathways, and investigated the therapeutic potential of CGS21680, an A(2A)R agonist, through in vitro and in vivo studies using R106W RTT model. CGS21680 restored neurite outgrowth, the number of SYN1(+)/MAP2(+) puncta pairs, genes related to the BDNF-TrkB signaling pathway (Bdnf, TrkB, and Mtor) and neural development (Tuj1 and Syn1), and electrophysiological functions in in vitro RTT primary neurons. Additionally, CGS21680 alleviated neurobehavioral impairments and modulated gene expression in an RTT in vivo model. Our findings suggest that activation of A(2A)R via CGS21680 enhances BDNF-TrkB signaling, which in turn activates downstream pathways, ultimately increasing neurite outgrowth and synaptic plasticity, and restoring neurobehavioral clinical symptoms. This is the first study to report the therapeutic effect of CGS21680 in R106W point mutation RTT models, both in vitro and in vivo. These research results suggest that CGS21680 could be a promising therapeutic candidate for the treatment of RTT.