Pubmed du 04/07/25

Pubmed du jour

1. Cao D, Ni L, Qi Q, Zhou L, Zhang W, Wang Y, Zhu L, Ma G, Zhang F, Li S. Middle Longitudinal Fascicle Maldevelopment on Free Water Corrected MR Diffusion Underlies Language Impairment in Autism. J Neuroimaging;2025 (Jul-Aug);35(4):e70067.

BACKGROUND AND PURPOSE: The middle longitudinal fascicle (MdLF), a recently characterized white matter tract within the ventral language network, remains understudied in autism spectrum disorder (ASD). We hypothesized that altered microstructural development of the MdLF contributes to language impairment in children with ASD. METHODS: Free water corrected diffusion magnetic resonance imaging (MRI) tractography was employed to reconstruct the MdLF in 57 children with ASD (5.79±0.99 years) and 37 matched typically developing (TD) controls (5.99±1.38 years), aged 4-9 years. Language impairment was assessed using the Autism Behavior Checklist language subscale. General linear models and partial correlations (covarying age) were applied to investigate age-related differences of diffusion metrics and the correlation of diffusion metrics with language impairment in ASD. RESULTS: Significant age-by-group interactions emerged for bilateral MdLF fractional anisotropy tissue (FA(t)) (TD: left/right β = 0.614/0.511, p < 0.01; ASD: p > 0.05) and axial diffusivity tissue (AD(t)) (ASD: left/right β = -0.458/-0.348, p < 0.05; TD: p > 0.05). In ASD, FA(t) (r = -0.441, p < 0.001) and AD(t) (r = -0.28, p = 0.037) were negatively correlated with language impairment, while radial diffusivity tissue showed a positive correlation (r = 0.355, p = 0.007) in the right MdLF. There were no significant between-group differences found in diffusion metrics. CONCLUSIONS: The MdLF exhibits aberrant developmental trajectories in preschool children with ASD, and its microstructural integrity is linked to language impairment. These findings underscore the MdLF's role in ASD-related language deficits and highlight the importance of early neurodevelopmental assessment.

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2. Domarecki P, Plata-Nazar K, Nazar W. A proposed algorithm for early autism screening in Polish primary care settings – a pilot study. BMC Prim Care;2025 (Jul 3);26(1):216.

BACKGROUND: The rising rate of autism spectrum disorder (ASD) prevalence worldwide demands new screening algorithms to make the process of diagnosis more effective. General practitioners and pediatricians are well-positioned to screen all children aged 16 to 30 months during regular check-ups. In the research, the original algorithm for early autism screening in Polish primary care settings was proposed and tested. METHODS: Based on the literature review, the original algorithm of early autism screening employing observational tool was developed and tested. Personal data and M-CHAT-R/F were collected online. In the second phase, chosen patients participated in the Screening Tool for Autism in Toddlers and Young Children (STAT). Children who scored positive were referred for the comprehensive ASD evaluation. Normal distribution was analyzed with the use of the Shapiro-Wilk test. Chosen variables were compared using the U-Mann Whitney (nonparametric data) or Student’s t-test (parametric data). The Spearman’s rank correlation coefficient was calculated to analyze the strength of association between selected continuous variables. The threshold of the two-sided statistical significance was set at p < 0.05. RESULTS: Of 187 parents invited to the project, 159 filled the form in the first phase. According to the protocol, 29 children were chosen for the second stage. 10 children scored positive in the STAT session and were referred for comprehensive evaluation. 5 children out of the seven who attended the evaluation received a final diagnosis of ASD. Parental concerns were found the strongest predictor of M-CHAT-R/F results. Fear of having a child with ASD diagnosis was the most common reason for withdrawal from further steps of the protocol. CONCLUSIONS: The proposed algorithm for early developmental screening in the Polish primary care settings is a promising pathway with the potential to be implemented in clinical practice. It contributes to the early detection of developmental difficulties and therefore results in positive therapeutic outcomes. Further research is needed.

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3. Fideli Ü S, Scher AI, Young WW, Olsen CH, Susi A, Hisle-Gorman E. Mean Corpuscular Volume and Risk of Autism Spectrum Disorder. Int J Vitam Nutr Res;2025 (Jun 6);95(3):26726.

BACKGROUND: Autism spectrum disorder (ASD) can be diagnosed as early as 18 months old, but more reliably after two years. Notably, no laboratory test exists to identify mothers at higher risk of having a child who will later be diagnosed with ASD or to identify at-risk infants before the manifestation of symptoms. One frequently described risk factor for neurodevelopmental disorders is vitamin B12 and folate deficiency, which results in macrocytic anemias. METHODS: We evaluated whether increased mean corpuscular volume (MCV), an indicator of macrocytic anemias in the mother or child, is associated with increased odds of a subsequent ASD diagnosis. Maternal mean MCV (mMCV) was calculated from any value in the year before birth, and the mMCV for the child was calculated from any MCV value from birth until the end of the follow-up time. Odds ratios with 95% confidence intervals were estimated from logistic regression models. RESULTS: A total of 3798 mothers (984 cases-ASD/2814 controls) and 9633 children (3206 cases-ASD/6427 controls) had at least one MCV value. The mMCV for the mother one year before birth was not associated with a later diagnosis of ASD in their children. In children, compared to the reference group (mMCV 76 femtoliters (fL)), an mMCV of 81 fL, 84 fL, and 91 fL was increased odds of ASD of 26%, 38%, and 32%, respectively. CONCLUSION: The MCV can be a potential inexpensive biomarker to identify a subset of children at risk of ASD or other developmental disorders; this exploratory study can inform larger studies to determine the clinical utility of MCV.

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4. Garvin MR, Kainer D. Dysregulation of heterochromatin caused by genomic structural variants may be central to autism spectrum disorder. Front Mol Neurosci;2025;18:1553575.

INTRODUCTION: Autism spectrum disorder (ASD) is a highly heritable and heterogeneous neuropsychiatric condition whose cause is still unknown. A common function of proteins encoded by reported risk-genes for ASD is chromatin modification, but how this biological process relates to neurodevelopment and autism is unknown. We recently reported frequent genomic variants displaying Non-Mendelian inheritance (NMI) patterns in family trios in two cohorts of individuals with autism. These loci represent putative structural variants (SV) and the genes that carry them participate in neurodevelopment, glutamate signaling, and chromatin modification, confirming previous reports and providing greater detail for involvement of these processes in ASD. The majority of these loci were found in non-coding regions of the genome and were enriched for expression quantitative trait loci suggesting that gene dysregulation results from these genomic disruptions rather than alteration of proteins. METHODS: Here, we intersected these putative ASD-associated SVs from our earlier work with diverse genome-wide gene regulatory and epigenetic multi-omic layers to identify statistically significant enrichments to understand how they may function to produce autism. RESULTS: We find that these loci are enriched in dense heterochromatin and in transcription factor binding sites for SATB1, SRSF9, and NUP98-HOXA9. A model based on our results indicates that the core of ASD may reside in the dysregulation of a process analogous to RNA-induced Initiation of Transcriptional gene silencing that is meant to maintain heterochromatin. This produces SVs in the genes within these chromosomal regions, which also happen to be enriched for those involved in brain development and immune response. DISCUSSION: This study mechanistically links previously reported ASD-risk genes involved in chromatin remodeling with neurodevelopment and may explain the role of de novo mutations in ASD. Our results suggest that a large portion of the heritable component of autism is the result of changes in genes that control critical epigenetic processes.

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5. Gonzalez B, Bartels K, Talyn B. Scoping review of the relationship between glyphosate-based herbicide exposures and autism spectrum disorder. Food Chem Toxicol;2025 (Jul 4);204:115621.

Glyphosate is an active ingredient in the plethora of glyphosate-based herbicide (GBH) products available, such as Roundup, and is the most commonly used pesticide worldwide. Studies recognize that genetic and environmental factors contribute to the development of Autism spectrum disorder (ASD) in children, with a notable correlation between the increased use of glyphosate and reported ASD cases. ASD is a neurological disorder characterized by social impairments, anxiety, repetitive behavior, etc. Animal models simulating ASD – like behavior exhibited changes in behavior, such as increased repetitive behavior and social deficits, after prenatal glyphosate/GBH exposure. Furthermore, geographic and human surveys identified correlations between glyphosate/GBH exposure and development of ASD in children. Taken together, results demonstrate a strong relationship between the deleterious effects of glyphosate/GBH exposure and ASD development in children. Even if the individual contribution of GBH exposure represents only one of many environmental risk factors, ubiquitous exposure to GBH in public spaces, through occupational exposure, and as food residue contribute to its importance. Additional research is needed to distinguish glyphosate’s impact during prenatal and postnatal exposure, test differences between pure glyphosate and various GBH formulations, and further elucidate the relationship between exposure and ASD development in humans.

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6. Harh S, Shahoud S, Daher S, Alasmar D. A novel sequence of the PHKG2 mutation associated with the first case of glycogen storage diseases type IXc in Syria: a case report and review of literature. J Med Case Rep;2025 (Jul 4);19(1):317.

BACKGROUND: Glycogen storage diseases are a group of inherited metabolic disorders that affect the body’s ability to break down and/or store glycogen. Type IX glycogen storage disease is an inherited disorder caused by a deficiency of phosphorylase kinase, which leads to various symptoms. We report the first reported case in Syria of glycogen storage disease type IXc caused by a novel phosphorylase B kinase catalytic subunit gamma 2 gene mutation, emphasizing the importance of early diagnosis and genetic counseling. CASE PRESENTATION: A 6-month-old Syrian male infant of Arab ethnicity presented with developmental delay, hepatomegaly, and hypoglycemia. Genetic testing identified a previously unreported phosphorylase B kinase catalytic subunit gamma 2 variant (c.801G > A p.( =)), classified as a variant of uncertain significance. Liver biopsy and clinical features were consistent with glycogen storage disease type IXc. DISCUSSION: This report expands the current understanding of phosphorylase B kinase catalytic subunit gamma 2-related glycogen storage disease type IXc by documenting a novel synonymous mutation with potential clinical significance. It underscores the critical role of early genetic testing in consanguineous populations, not only for accurate diagnosis but also for guiding family counseling and long-term management. CONCLUSION: The identification of this novel mutation contributes to expanding the known phosphorylase B kinase catalytic subunit gamma 2 mutation spectrum and stresses the need for genetic counseling in similar populations.

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7. Keshavarz S, Esmaeilpour K. Exploring the interplay of sensory hypersensitivity and autistic traits in children. BMC Psychol;2025 (Jul 4);13(1):726.

OBJECTIVES: Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by social challenges and repetitive behaviors, influenced by genetic and environmental factors. Autistic traits, including variations in sensory processing, exist across both clinical and subclinical spectrums, impacting individuals with and without an ASD diagnosis. Given the importance of understanding sensory processing in individuals with autism, this essay aims to explore the relationship between autistic traits and sensory hypersensitivity within the general population. MATERIALS & METHODS: This cross-sectional study, was based on caregiver reports of 247 children aged 7 to 11 years. The parents completed the Autism-spectrum Quotient-Children’s Version (AQ-C) and the Short Sensory Profile 2 (SSP2). using the multiple regression analysis, we investigated the relative contributions of different AQ sub-scales to sensory hypersensitivity scores. A one-way analysis of variance (ANOVA) was then conducted to determine whether sensory hypersensitivity levels (categorized as typical performance, probable difference, and definite difference) influenced overall autistic traits. Additionally, Spearman’s rank-order correlations were used alongside parametric tests to explore the relationships between sensory hypersensitivity subgroups (Tactile Sensitivity, Taste/Smell Sensitivity, Movement Sensitivity, Seeks Sensation, Auditory Filtering, Low Energy, and Visual/Auditory Sensitivity) and AQ scores. RESULTS: while Pearson correlation analysis revealed a significant linear relationship between AQ scores and the total sensory score (r = -.496**, p <.01), The multiple regression model revealed that, among autistic traits, only Attention Switching (β = - 0.291, p =.000) and Communication (β = - 0.479, p =.000) were significant predictors of hypersensitivity. Furthermore, the result of one-way ANOVA indicated a significant effect of sensory hypersensitivity sub-scales on autistic traits, F (2, 241) = 33.096, p <.01. CONCLUSIONS: Based on the results, a link between sensory processing and autistic traits in the general population was confirmed. These insights underscore the importance of considering sensory processing differences when assessing autism-related traits and could inform targeted interventions for individuals experiencing sensory challenges.

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8. Lin K, M KAH, Thapa S, Allan J, Buys N, Sun J. Relationship of parental caregiving and child labour with developmental problems and mental health in children in low-to-middle-income countries using the socioecological resilience model. BMC Public Health;2025 (Jul 3);25(1):2323.

BACKGROUND: The socioecological resilience (SER) model explains that individual, relational, and structural factors influence child development and mental health. Children in low-to middle-income countries (LMICs) are affected by multiple risk factors on different SER levels. This cross-sectional study aimed assess the influence of experience of child labour and poor caregiving practices on child development in LMICs using the SER model. METHOD: Data regarding child development, caregiving practices, and child labour collected through Multiple Indicator Cluster Surveys (MICS) by UNICEF were analysed. Differences in prevalence of developmental delays, mental illness, child labour, and poor caregiving practices were compared across countries and across different sociodemographic index (SDI) levels. Multi-level modelling was used to determine factors associated with developmental difficulties, and anxiety, and depression symptoms in children. RESULTS: 251,681 children were included in the analysis. Significant variations in child labour engagement existed across low to upper-middle SDI countries. Prevalence of anxiety (30.8%), depression (40.8%) and socio-emotional difficulties (mean score = 0.115) were highest in low SDI countries. Poor physical caregiving, engagement in child labour, and low maternal education was significantly associated with higher socio-emotional difficulties, anxiety, and depression. CONCLUSION: To address the complex interplay between extreme poverty and adverse child health outcomes across low SDI countries, a multifaceted approach aimed at alleviating poverty, improving access to education, strengthening social protection systems, and promoting effective caregiving practices are required.

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9. Lou S, R DJT, Wasko UN, Equbal Z, Venkatesan S, Braczyk K, Przanowski P, Il Koo B, Saltani I, Singh AT, Likhite S, Powers S, Souza G, Maxwell RA, Yu J, Zhu LJ, Beenhakker M, Abbott SBG, Lu Z, Green MR, Meyer KC, Tushir-Singh J, Bhatnagar S. Targeting microRNA-dependent control of X chromosome inactivation improves the Rett Syndrome phenotype. Nat Commun;2025 (Jul 4);16(1):6169.

X chromosome inactivation (XCI) is induced by Xist long non-coding RNA and protein-coding genes. However, the role of small non-coding RNA function in XCI remains unidentified. Our genome-wide, loss-of-function CRISPR/Cas9 screen in female fibroblasts identified microRNAs (miRNAs) as regulators of XCI. A striking finding is the identification of miR106a among the top candidates from the screen. Loss of miR106a is accompanied by altered Xist interactome, leading to dissociation and destabilization of Xist. XCI interference via miR106a inhibition has therapeutic implications for Rett syndrome (RTT) girls with a defective X-linked MECP2 gene. Here, we discovered that the inhibition of miR106a significantly improves several facets of RTT pathology: it increases the life span, enhances locomotor activity and exploratory behavior, and diminishes breathing variabilities. Our results suggest that miR106a targeting offers a feasible therapeutic strategy for RTT and other monogenic X-linked neurodevelopmental disorders.

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10. Magidigidi-Mathiso L, Frantz J, Filies GC. Caregiver capabilities: Healthcare interventions for children with developmental disabilities. Afr J Disabil;2025;14:1563.

BACKGROUND: Developmental disabilities (DDs) involve impairments affecting children’s abilities, impacting development and necessitating specialised care. Many caregivers face challenges caring for these children, lacking access to supportive healthcare interventions. Addressing this issue aligns with United Nations (UN) goals for ensuring access to quality services for children with disabilities and their caregivers. OBJECTIVES: This study aimed to systematically review and synthesise evidence on healthcare interventions enhancing caregiver capabilities for children with DDs, identifying intervention types, components and effectiveness. METHOD: Our systematic review analysed peer-reviewed English-language studies from 2014 to 2024, focusing on interventions for caregivers of children with DDs. The review investigated healthcare interventions designed to enhance caregiver capabilities across diverse cultural contexts, examining international research to understand strategies supporting caregivers of children with DDs. RESULTS: We found significant improvements in caregiver well-being through five interventions. Parent education reduces stress and improves parenting. Peer support decreased isolation while counselling enhanced family functioning. Condition-specific interventions increased intervention adherence among minorities. Combined interventions showed strong positive effects, especially when tailored. Comprehensive programmes greatly improved caregiver quality of life. Further research is needed for underserved communities and culturally adaptive interventions. CONCLUSION: Our review indicates potential positive parental impacts with limited evidence. Small samples warrant future research using larger studies, emphasising rigorous methods, cultural adaptation and diverse community representation. CONTRIBUTION: Our review identifies promising intervention types and highlights the need for further research to optimise caregiver support and promote access to quality services.

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11. Nandipati S, Reddy A. Gender Dysphoria & Dissociative Identity Disorder in Autism Spectrum Disorder. Psychopharmacol Bull;2025 (Jul 4);55(4):104-109.

This patient is a 17 year old Caucasian transgender male (FTM) with autism spectrum disorder (ASD level 1), gender dysphoria (GD), and dissociative identity disorder (DID). The patient has multiple psychiatric comorbidities including obsessive-compulsive disorder (OCD), generalized anxiety disorder (GAD), attention-deficit hyperactivity disorder (ADHD), emotional dysregulation, trauma and stressor disorder, and insomnia. Medical comorbidities include 16p13.3 and 16p24.3 microdeletions, hypotonia, bilateral cataracts (surgically corrected), and minimal change disease. To our knowledge, this is the first case report in which the patient is suffering from ASD, GD, and DID as comorbid diagnoses. Our review of this patient serves to highlight the complexity of providing care to patients with a comorbidity of ASD, GD, and DID, as well as the complexity in distinguishing these conditions from one another.

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12. Perez Y, Velmeshev D, Wang L, White ML, Siebert C, Baltazar J, Zuo G, Moriano JA, Chen S, Steffen DM, Dutton NG, Wang S, Wick B, Haeussler M, Chamberlain S, Alvarez-Buylla A, Kriegstein A. Single-cell analysis of dup15q syndrome reveals developmental and postnatal molecular changes in autism. Nat Commun;2025 (Jul 4);16(1):6177.

Duplication 15q (dup15q) syndrome is a leading genetic cause of autism spectrum disorder, offering a key model for studying autism-related mechanisms. Using single-cell and single-nucleus RNA sequencing of cortical organoids from dup15q patient-derived iPSCs and post-mortem brain samples, we identify increased glycolysis, disrupted layer-specific marker expression, and aberrant morphology in deep-layer neurons during fetal-stage organoid development. In adolescent-adult postmortem brains, upper-layer neurons exhibit heightened transcriptional burden related to synaptic signaling, a pattern shared with idiopathic autism. Using spatial transcriptomics, we confirm these cell-type-specific disruptions in brain tissue. By gene co-expression network analysis, we reveal disease-associated modules that are well preserved between postmortem and organoid samples, suggesting metabolic dysregulation that may lead to altered neuron projection, synaptic dysfunction, and neuron hyperexcitability in dup15q syndrome.

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13. Powell A, Yamaguchi N, Lu H, Pareek O, Elman I, Gold MS, Pinhasov A, Blum K, Thanos PK. The Role of Fatty Acid Binding Proteins in Neuropsychiatric Diseases: A Narrative Review. Front Biosci (Landmark Ed);2025 (Jun 17);30(6):26812.

Fatty acid binding proteins (FABPs) transport lipids in the brain and may be involved in the course of various neuropsychiatric syndromes, e.g., major depressive disorder (MDD), anxiety, schizophrenia, neurodegenerative disorders, autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), and substance use disorders (SUDs). However, the nature of this link is not sufficiently elucidated. To that end, we performed a comprehensive literature search on the role of FABPs in neuropsychiatric disorders. Literature searches were conducted from Medline/PubMed electronic databases utilizing the search terms (« fatty acid binding protein » OR « FABP ») AND (« psychiatry » OR « ADHD » OR « autism » OR « schizophrenia » OR « substance abuse » OR « substance use disorder » OR « addiction » OR « cocaine » OR « ethanol » OR « tetrahydrocannabinol (THC) » OR « nicotine » OR « anxiety » OR « depression » OR « major depressive disorder », OR « neurodegenerative » OR « Alzheimer » OR « Parkinson » OR « dementia »). Of the 1281 publications found, 90 met the inclusion criteria. FABP alterations were found to be involved in pathology and/or associated with the severity of all conditions examined. Elevated levels of FABP2 and FABP7 were found in patients with MDD and ASD, while FABP3 is implicated in dopamine receptor regulation linked to ADHD and SUDs. Moreover, FABPs’ involvement in neuroinflammation and lipid metabolism could shed light on new therapeutic strategies. Alterations in FABP expression may contribute to the increased prevalence and severity of certain neuropsychiatric conditions. Our findings, albeit pending further validation via prospective clinical trials, call for further research into the mechanisms by which FABPs affect neurophysiopathology and highlight the therapeutic potential of FABP inhibitors in mitigating such illnesses.

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14. Ramme A, Zachow M, Habelt B, Vojtechova I, Petrasek T, Waltereit R, Bernhardt N. Behavioral phenotyping identifies autism-like repetitive stereotypies in a Tsc2 haploinsufficient rat model. Behav Brain Funct;2025 (Jul 3);21(1):20.

Besides deficits in social communication and interaction, repetitive behavior patterns are core manifestations of autism spectrum disorder (ASD). Phenotypes are heterogeneous and can range from simple lower-order motor stereotypies to more complex higher-order cognitive inflexibility and fixated interests. Due to ASD’s multifaceted etiology, animal models are often generated from monogenic diseases associated with ASD, such as Tuberous Sclerosis Complex (TSC), and are expected to copy behavioral core deficits to increase the model´s translational value for ASD disease research and novel treatment development. The global haploinsufficient Tsc2(+/-) Eker rat model has been shown to display ASD core symptoms in the social domain. However, the presence and extent of aberrant repetitive behavior patterns in the Eker rat remain to be investigated. Thus, the present study applied a set of behavioral tests to determine the repetitive behavioral profile in Tsc2(+/-) Eker rats and used brain-region-specific neurotransmitter analysis to support findings on a molecular level. Tsc2(+/-) animals demonstrated lower-order repetitive behavior in the form of excessive self-grooming and nestlet shredding under non-stressful conditions that co-occurred alongside social interaction deficits. However, no higher-order repetitive behavior was detected in Tsc2(+/-) rats. Interestingly, Tsc2(+/-) rats exhibited increased levels of homeostatic dopamine in the prefrontal cortex, supporting the link between aberrant cortical dopaminergic transmission and the appearance of lower-order repetitive phenotypes. Together, our results support the Tsc2(+/-) Eker rat as a model of ASD-like behavior for further investigation of ASD-related development and neurobiology.

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15. Ricou C, Aguillon-Hernandez N, Wardak C. Motion Processing in ASD: From Low-Level Information to Higher-Level Social Information. Wiley Interdiscip Rev Cogn Sci;2025 (Jul-Aug);16(4):e70010.

From birth, our visual system is sensitive to movement. Motion, as defined by any change in spatial position over time, is part of our daily lives and can refer to various visual information from elements of nature (like a tree swaying in the wind), objects (like a moving car), animals (like a running dog) or people (like two people dancing). Atypical motion processing, in particular for social and biological movement cues, could lead to difficulties in social interaction and communication, like those observed in Autism Spectrum Disorder (ASD). Extensive research has focused on coherent and biological motion processing in ASD, showing difficulties for both motion categories. Motion-related differences also emerge in several social contexts like emotion processing, joint attention, language acquisition, and body relationship with the environment. However, it remains unclear whether high-level difficulties stem from low-level processing issues or are specific to interpreting social cues. It appears that critical steps between low-level local cues processing and high-level biological/social contexts have not been studied. Adopting an approach encompassing a motion gradient from low to high levels could help identify when motion-related difficulties arise in ASD and which specific types or attributes of motion are most affected. This would offer a more comprehensive and integrated perspective on motion processing in ASD. This article is categorized under: Neuroscience > Cognition.

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16. Sameea AA, Abd El-Wahab EW, Osman SO. Mothers’ Awareness and Knowledge of Autism Spectrum Disorder (ASD): A Multi-Center Study in Qatar. Sage Open Pediatr;2025 (Jan-Dec);12:30502225251348293.

BACKGROUND: Awareness of autism spectrum disorder (ASD) may impact early diagnosis, intervention, and developmental outcomes the disease. OBJECTIVES: To assess the awareness and knowledge regarding ASD among mothers of children with ASD in the State of Qatar. METHODS: We conducted a cross-sectional study on 600 mothers of eligible children at 10 main primary health care centers (PHCCs) in Qatar. A qualitative approach through a pretested questionnaire was used to collect data. RESULTS: Around 91.2% of the mothers were aware of ASD, of which 32.7% had good knowledge of the common disease features. Mothers’ satisfaction with the delivered healthcare was variable with regard to health education, support and interventions. CONCLUSIONS: Although mothers’ awareness of ASD was high, their actual knowledge about the disease features was poor. Mothers’ experience with ASD is vivid expressing emotional and social aspects, together with satisfaction about relevant services.

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17. Silver K, Parsons S. Strategies for developing interactional expertise: how non-autistic communication partners enable or block the effective contributions to significant conversations by autistic people. Disabil Rehabil;2025 (Jul 4):1-14.

PURPOSE: Decades of communication research have focused on the so-called « deficits » of autistic people and on interventions to remediate these. This study takes a different perspective in line with the neurodiversity paradigm to examine what non-autistic communication partners do to enable or undermine the ability of autistic people to think and to contribute their own knowledge and ideas to the conversation. MATERIALS AND METHODS: In-depth, longitudinal case studies of the communication exchanges between three autistic women and two autistic men and their chosen, non-autistic communication partners (one man and six women) were undertaken over 4-12 months via semi-structured interviews, observation, reflective conversations, and diary records. RESULTS: Conversation transcripts were analysed thematically to identify the communication of the non-autistic participants as broadly helpful (« grease » or « flow ») or unhelpful (« blocks »). Sub-themes included how to optimise engagement, respond to disengagement, build shared understanding, and provide prompts at the right time. Interrupting, giving ideas and asking unhelpful questions often functioned as a block to thinking and contribution to the conversation. CONCLUSION: The « grease » and « blocks » identified could provide a powerful and timely reframing for the focus of autism communication training towards promoting interactional expertise, especially for anyone involved in important consultation with autistic people. This study explores how a non-autistic communication partner may develop interactional expertise in supporting autistic people to contribute what they think and know to conversationsHelpful strategies were identified and used by non-autistic communication partners, enabling autistic participants to feel able to think and explore their ideas, and to feel listened to and understoodNon-autistic partners learned how to avoid having a negative impact on the thinking and contribution of an autistic person in conversationThe findings of this study may inform “communication partner training” for those who support autistic people in their everyday lives and in health and social care decision-making. eng

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18. Smith L, Kirton J, West H, Jackson L, Herron K, Cherry MG. The interpersonal experiences of autistic women and birthing people in the perinatal period: a systematic review using the autistic SPACE framework. J Reprod Infant Psychol;2025 (Jul 3):1-23.

AIMS/BACKGROUND: Autistic women and birthing people encounter challenges beyond those typically experienced in the perinatal period. In non-perinatal healthcare settings, autistic people do not feel well-understood and supported by healthcare professionals. Little is known about how autistic people experience maternity and perinatal healthcare services. This systematic review synthesises studies exploring autistic women and birthing people’s interpersonal experiences when engaging with perinatal healthcare services, using the Autistic SPACE Framework to guide interpretation. DESIGN/METHODS: Searches of MEDLINE, CINAHL, Embase, PsycINFO, Scopus and Web of Science were supplemented with hand searching. Studies were included if they included qualitative data from peer-reviewed publications relating to autistic women and birthing people’s experiences of perinatal healthcare. Studies were assessed using the Critical Appraisal Skills Programme (CASP) qualitative checklist. Data were extracted and synthesised using thematic synthesis; confidence in findings was assessed using the GRADE CER-Qual framework. RESULTS: Ten high-quality studies, with 301 participants, were included. Eight over-arching themes were identified with high confidence, mapping onto the SPACE framework: (1) Feeling over-stimulated; (2) The need to build rapport with healthcare professionals; (3) The need for clear factual information; (4) Feeling judged; (5) Poor understanding of autism; (6) Not asking for help does not mean not needing help, (7) The need for autism-tailored communication and (8) Feeling uncared for. CONCLUSION: Autistic women and birthing people’s needs are not well-understood and supported in perinatal and maternity services, which negatively effects access to, and experience of, care. More autism-nuanced training, including education on sensory and communication differences, is needed.

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19. Torres EB, Travers BG, Delafield-Butt JT, Srinivasan A. Editorial: Autism: the movement (sensing) perspective a decade later. Front Integr Neurosci;2025;19:1634265.

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20. Treves N, Dagan A, Kohn E, Hazan A, Berkovitch M, Abu-Kishk I, Agajani N, Barchel D, Heyman E, Lazinger M, Hartmann I, Stolar O. Evaluating the impact of cannabis oil for autistic children with and without concomitant medications: Insights from an open-label study. J Psychopharmacol;2025 (Jul 4):2698811251332841.

BACKGROUND: Although only two drugs are FDA approved for autism spectrum disorder (ASD), clinical practice treatment includes off-label use of medications to address the troubling symptoms of ASD. Several trials showed the beneficial effects of medical cannabis for alleviating symptoms of ASD. However, data are lacking regarding its safety and effectiveness as a single agent compared to add-on therapy. AIMS: To compare the safety and effectiveness of medical cannabis as a monotherapy and add-on therapy in autistic children. METHODS: An open-label trial recruiting autistic children was performed and treated with medical cannabis oil with a THC:CBD ratio of 1:20, respectively. Tests were conducted at baseline and after 6 months of therapy. A secondary analysis was done to compare physical and behavior parameters, using tests such as Autism Diagnostic Observation Schedule and Wechsler tests in the two groups. RESULTS: Out of 109 participants, 81 completed the treatment. Thirty received cannabis as add-on therapy to a pre-existing treatment, whereas 51 received cannabis as monotherapy, with no observed differences in baseline characteristics between the groups. The mean maximal CBD dose was 3.1 mg/kg/day in the monotherapy group, compared to 2.8 mg/kg/day in the add-on group (p = 0.40). In patients treated with drugs for psychosis, the mean maximal dose was 2.48 mg/kg/day (p = 0.12). No differences were observed in most physical and behavioral parameters. In addition, no differences in CBD blood levels were observed. CONCLUSIONS: Add-on cannabis therapy is as safe as monotherapy treatment, without significant differences in efficacy.

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21. Zehnwirth N, Smith L, Shepherd DA, Sung V. Developmental Profiles of Young Deaf and Hard of Hearing Children and Their Associated Predictors. Child Care Health Dev;2025 (Jul);51(4):e70129.

BACKGROUND: Concomitant developmental disability is common in deaf and hard of hearing (DHH) children. We describe the early developmental profiles of DHH children and explore factors that may be predictive of these profiles. METHODS: We report on data from DHH children aged 0-66 months who are participants of a longitudinal child hearing databank in Victoria, Australia. Developmental profiles were measured using the Ages and Stages Questionnaire (ASQ) across five domains (communication, gross motor, fine motor, personal social and problem solving). We reported descriptive statistics and used logistic regression to estimate odds ratios and determined which characteristics were associated with below cut-off ASQ scores. RESULTS: Caregivers of 882 children aged 0-66 months completed the ASQ between 2012 and 2022. A considerable proportion of children scored below their developmental expectations for age with 35% below ASQ cut-off for communication, 24% fine motor, 23% problem solving, 21% gross motor and 20% personal social. Children with a mild degree of hearing loss scored below cut-off ranging from 16% to 26% across the domains. Predictive factors for below cut-off development included admission to neonatal intensive care, extreme prematurity, infection requiring intravenous antibiotics and having more than one comorbidity for all domains. Bilateral hearing loss, cochlear implant use, jaundice requiring treatment and seizures were associated with communication delays. Cochlear implant use was a protective factor for gross motor development. CONCLUSIONS: Early developmental screening is vital for DHH children, as these children have multiple developmental needs. Degree of hearing loss does not predict overall development; however, children with a mild degree of hearing loss can have developmental impairments and benefit from developmental monitoring. Early targeted intervention to support DHH children is imperative in maximizing their functional abilities and well-being. SUMMARY: Deaf and hard of hearing children may have additional developmental disabilities and comorbidities, and early intervention supports their development. This paper provides insights into the specific factors that influence development in young deaf and hard of hearing children drawn from a large sample of universally early-identified children. All deaf and hard of hearing children should receive developmental monitoring, including children with mild hearing loss. Developmental monitoring should target deaf and hard of hearing children who were born premature, those who received early medical interventions at birth and those with medical comorbidities.

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22. Zhu L, Zhang H, Wang L, Yang X. Global and Regional Trends in Autism Burden from 1990 to 2021: A Data Re-Analysis and Prediction from the Global Burden of Disease Study. Risk Manag Healthc Policy;2025;18:2151-2168.

OBJECTIVE: This study aims to investigate global incidence rates and disability-adjusted life-years (DALYs) for autism spectrum disorder (ASD) from 1990 to 2021 and forecast trends for the next 25 years. METHODS: Utilizing data from the Global Burden of Disease (GBD) study, we examined global and country-specific ASD incidence, prevalence, and burden. We also calculated age-standardized prevalence, analyzed by sex, age groups, sociodemographic index (SDI) regions, and GBD regions, and made predictions for the future. RESULTS: In 2021, the GBD reported global age-standardized ASD incidence and prevalence at 0.019% and 0.788%, respectively. High-income Asia-Pacific had the highest burden, while Tropical Latin America had the lowest. From 1990 to 2021, global age-standardized prevalence rose by 1.95%, and incidence by 5.20%. Females and low-middle SDI regions saw the most significant increases in incidence, while the Caribbean and Serbia saw decreases. High-income Asia Pacific and Japan experienced the largest prevalence increases, and Middle SDI, East Asia, high-income Asia Pacific, and Equatorial Guinea saw the most significant DALY increases, with Oceania showing the largest decrease. Predictive models forecast continued increases in incidence, prevalence, and DALYs from 2022 to 2046. CONCLUSION: ASD incidence, prevalence, and DALYs are rising annually, with notable increases in females and middle-low income countries and a decline in the Caribbean. Tailored screening and interventions based on regional rates are essential for improving the health of individuals with autism.

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