Pubmed du 22/01/25

Pubmed du jour

1. Erratum: Binder et al., « Reducing Filamin A Restores Cortical Synaptic Connectivity and Early Social Communication Following Cellular Mosaicism in Autism Spectrum Disorder Pathways ». J Neurosci. 2025.

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2. Alatrash S, Paul T, Carbone J, Penner M, Roshan Fekr A, Kushki A. Predictors of irritability in pediatric autistic populations: a scoping review. Front Child Adolesc Psychiatry. 2024; 3: 1393231.

INTRODUCTION: Autism is characterized by social communication differences and repetitive behaviors, affecting 1%-2% of children. Irritability is a disabling condition affecting 19%-80% of autistic children. While extensive research has focused on interventions to reduce irritability symptoms, the underlying correlates remain poorly understood. To address this, we conducted a scoping review of the literature examining factors contributing to irritability in pediatric autistic populations. METHODS: A literature search of Embase, MEDLINE, PubMed, PsycINFO, and Web of Science was conducted in addition to manually retrieved papers from Google Scholar. Studies underwent title and abstract screening by one reviewer and full-text screening by two reviewers; disagreements were resolved through deliberation. The remaining studies underwent data extraction. The review was conducted using the PRISMA-ScR checklist. RESULTS: The search yielded 48 studies meeting the inclusion criteria. Correlates of irritability were categorized into eight themes: demographics/environmental, autism features, mental health, language, cognition, and function, neurobiological, physical health, physiological, and multidimensional factors. Findings revealed mixed associations with demographic factors, consistent positive associations with sensory differences and mental health symptoms, and varying associations with cognitive abilities and physical health factors. Neurobiological and physiological correlates were less explored. CONCLUSION: This review revealed a significant gap in understanding sociodemographic, phenotypic, and neurobiological and physiological correlates of irritability in autism. There was also a significant gap in understanding the multi-dimensional irritability correlates. Positive associations between irritability and sensory differences and mental health symptoms suggest potential avenues for investigation of non-medication interventions.

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3. Alvarez-Dieppa AC, Griffin K, Cavalier S, Souza RR, Engineer CT, McIntyre CK. Vagus nerve stimulation rescues impaired fear extinction and social interaction in a rat model of autism spectrum disorder. J Affect Disord. 2025.

Clinical diagnosis of anxiety disorders is highly prevalent in autism spectrum disorders (ASD). Available treatments for anxiety offer limited efficacy in the ASD population. Vagus nerve stimulation (VNS) has an anxiolytic effect in rats and, when coupled with fear extinction training, VNS enhances extinction of fear in healthy rats. The valproic acid (VPA)-induced rat model of autism shows impaired extinction of fear and deficits in social interaction. This study was designed to test the potential of VNS to rescue extinction learning and influence social behaviors in VPA-exposed rats. After VNS or sham surgery, VPA-exposed rats or controls were subjected to auditory fear conditioning followed by extinction training paired with VNS or sham stimulation. Another cohort was exposed to a social interaction task paired with VNS or sham stimulation. Time spent freezing was not significantly reduced during retention testing 24 h after extinction training in VPA-exposed rats given sham stimulation (p = .26), but freezing levels were significantly lower during the retention test in saline control and in VPA-VNS rats (p < .05), indicating that VNS reverses extinction deficits in VPA-exposed rats. In addition, social interaction scores were significantly lower in VPA-sham rats (p < .0005), but VPA-VNS rats were not significantly different from saline controls (p = .19), suggesting that VNS also alleviates social interaction deficits in VPA-exposed rats. VNS is approved for use in humans for treatment of epilepsy, depression, and stroke. These findings suggest that VNS may be a useful tool for overcoming treatment resistant anxiety in ASD.

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4. Andres EM, Brady SP, Camillone I, Cragin CA, Clark MA, Lester BM, Puggioni G, Sheinkopf SJ. Caregiver report of infant behavior associated with autism likelihood in first year of life. Pediatr Res. 2025.

BACKGROUND: Identification of prodromal indicators of autism in infancy has the potential to identify behaviors relevant to early autism screening. METHODS: We report on data from a prospective general population birth cohort with maternal reported measures at 9 and 12 months: the Survey of Well-Being of Young Children (SWYC; general developmental surveillance) and the First Year Inventory-Lite v3.1b (FYI-Lite; autism specific parent report research tool). Mothers completed the surveys and the Broad Autism Phenotype Questionnaire (BAPQ), a self-report measure of subclinical features of autism. RESULTS: In this sample of 332 infants (168 males), maternal-reported infant developmental milestones and behavioral indicators of difficult temperament, poor adaptability, and sleep problems at 9 months (SWYC) and maternal self-reported subclinical autism characteristics (BAPQ) were correlated with maternal-reported autism-related behaviors on the FYI-Lite at 12 months. Regression models revealed significant unique associations between infant temperament, developmental milestones, and FYI-Lite scores while controlling for significant effects of maternal BAPQ scores and education. CONCLUSIONS: Maternal report of infant temperament and developmental milestones at 9 months were associated with maternal-report early indicators of autism likelihood at 12 months in a general birth cohort. Follow up of this cohort is needed to determine associations with formal diagnostic outcomes. IMPACT: Identifying scalable measures of infant behaviors in general and specific to autism may help identify targets of intervention for infants in the first year of life. This study aims to contribute to improved first-year surveillance by assessing potential early autism indicators in a prospective general birth cohort, whereas other observational studies utilize enriched risk cohorts (e.g., infant siblings of autistic children). Preliminary findings of this cohort revealed that a maternal report of 9-month temperament significantly predicted higher scores on a maternal report 12-month autism screener and indicated the importance of considering maternal self-reported subclinical autism characteristics when interpreting parent report screeners.

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5. Aragón-Daud A, Vetere G, Argañaraz M, Musich FM. [Not Available]. Vertex. 2025; 35(166, oct.-dic.): 6-12.

OBJETIVO: El acceso efectivo a servicios esenciales es crucial para algunas personas con autismo. En Argentina, el certificado único de discapacidad (CUD) asegura derechos y beneficios esenciales para las personas con autismo. Analizar la demanda de CUD relacionadas con el autismo puede ofrecer valiosos conocimientos sobre las necesidades de esta población. Método: Este estudio examinó datos oficiales sobre la emisión de CUD por el Trastorno del Espectro Autista en Buenos Aires desde 2016 hasta 2021. RESULTADOS: Los resultados mostraron que la mayoría de los CUD fueron emitidos para hombres y para el Trastorno Generalizado del Desarrollo. Notablemente, casi la mitad de los CUD fueron otorgados a individuos mayores de 8 años, siendo estas tendencias consistentes a lo largo de los años. Observamos una caída significativa en la emisión de CUD en 2020. CONCLUSIONES: Nuestros hallazgos destacan desafíos relacionados con diagnósticos retrasados y no específicos, lo que conduce a un acceso tardío a derechos y tratamientos menos dirigidos. Estos patrones en las solicitudes espontáneas de asistencia para servicios estatales relacionados con el autismo pueden dar forma a políticas públicas bien fundamentadas y optimizar la asignación de recursos.

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6. Bai M, Xue Y, Dong H, Mohamed ZA, Jia F. Autism screening tool validation for toddlers and young children: advantages and limitations. Pediatr Res. 2025.

BACKGROUND: Early identification is crucial for children with autism. However, many children are diagnosed later due to the lack of specific assessment tools in primary care settings. The study aims to evaluate the effectiveness of the STAT in screening autism across different age groups while assessing its advantages and limitations. METHODS: In total, 434 children aged 14-48 months visiting autism clinics from March to December 2021 were included. Subjects were grouped by age (14-23, 24-36, and 37-48 months) and categorized based on clinical evaluations and STAT results. RESULTS: In the age groups of 14-23 and 24-36 months, STAT results demonstrated high sensitivity and specificity compared to DSM-5 diagnoses and exhibited better consistency with ADOS-2 results. However, its performance was weaker in the 37-48 months group. False-negative results were associated with less pronounced autistic traits and higher developmental quotients. CONCLUSION: STAT presents as a promising level 2 screening tool for early autism identification in China, but its accuracy diminishes in older children with less pronounced autistic traits. These findings emphasize the need for comprehensive assessment strategies for autism diagnosis across different age groups and varying levels of support needs. IMPACT: This study evaluates the effectiveness of the Screening Tool for Autism in Toddlers (STAT) for early screening of autism across different age groups. It highlights STAT’s effectiveness in younger age groups but emphasizes its limitations with older children and those with less pronounced autistic traits. The findings supplement existing literature by providing insights into STAT’s utility in diverse populations. The impact lies in guiding clinical practice to improve the identification of autistic characteristics, particularly in resource-limited settings, potentially enhancing early support and outcomes for autistic children.

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7. Bazzini MC, Narzisi A, Scarpini G, Scalona E, Bruzzi G, Russo A, Viglione V, Masi G, Rizzolatti G, Berchio C, Fabbri-Destro M. The Motor Melody in action Planning: The Case of Autistic Children and their Non-Autistic Siblings. Clin Neuropsychiatry. 2024; 21(6): 524-8.

OBJECTIVE: it is well known that during an intentional behavior, the final goal of the action shapes the entire sequence of motor acts. This chained organization has been previously demonstrated to be altered in school-age autistic children, who modulate only the final motor act according to the action goal. Here, we investigate the temporal modulation during the intentional action in three groups of preschoolers: neurotypical, autistic, and non-autistic siblings of autistic children. METHOD: the participants engaged in a simple task of reaching and grasping an object and placing it into two containers of different sizes. RESULTS: neurotypical children adjusted both reaching and placing times according to the width of the containers, indicating an action-chained organization. In contrast, both autistic children and non-autistic siblings adapted only the placing – but not the reaching- time according to the container size, exhibiting an unchained organization of intentional actions. CONCLUSIONS: despite not being included among the diagnostic criteria, motor alterations are present in a large number of autistic individuals, detectable from an early age. Being motor signs also expressed by non-autistic siblings, our findings suggest a potential link between motor abnormalities and the pathogenesis of autism. Thereby, tasks similar to the one employed here could be valuable for screening children with an increased likelihood of atypical neurodevelopment.

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8. Calderoni S, Coghill D. Editorial: Advancements and challenges in autism and other neurodevelopmental disorders. Front Child Adolesc Psychiatry. 2024; 3: 1372911.

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9. Candini M. Editorial: New insights into neurodevelopmental biology and autistic spectrum disorders. Front Neurosci. 2024; 18: 1514075.

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10. Dion J, Paquette G, De La Sablonnière-Griffin M, Argumedes M, Martin-Storey A, Bolduc ML, Hélie S, Bussières È L. Forms and correlates of child maltreatment among autistic children involved in child protection services. Front Child Adolesc Psychiatry. 2024; 3: 1386781.

BACKGROUND: Child maltreatment is a significant social problem impacting both health and society, with severe and enduring consequences. Certain children, such as those with neurodevelopmental conditions like autism, may be more at risk of experiencing maltreatment. However, little research has examined the characteristics of these children. This study aimed to compare child maltreatment and child protection services experienced by autistic children to those of non-autistic children. METHOD: Drawing from a representative selection of verified cases of child abuse investigated by child protection services in Quebec, Canada, a sample of 1,805 substantiated child maltreatment cases were analyzed. RESULTS: Overall, 4.0% (n = 73) of children had child protection services-reported autism diagnoses. Attention-deficit (OR = 2.207) and attachment problems risk (OR = 2.899) were higher among autistic children compared to non-autistic children. They were more likely to be boys (OR = 5.747), and to present with an intellectual disability (OR = 11.987), but less likely to have previously been investigated by child protection services (OR = 0.722). CONCLUSION: These findings suggest that autistic children who have been maltreated are facing specific challenges that require protective interventions tailored to their specific needs.

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11. Gioiosa S, Gasparini S, Presutti C, Rinaldi A, Castrignanò T, Mannironi C. Integrated gene expression and alternative splicing analysis in human and mouse models of Rett syndrome. Sci Rep. 2025; 15(1): 2778.

Mutations of the MECP2 gene lead to Rett syndrome (RTT), a rare developmental disease causing severe intellectual and physical disability. How the loss or defective function of MeCP2 mediates RTT is still poorly understood. MeCP2 is a global gene expression regulator, acting at transcriptional and post-transcriptional levels. Little attention has been given so far to the contribution of alternative splicing (AS) dysregulation to RTT pathophysiology. To perform a comparative analysis of publicly available RNA sequencing (RNA-seq) studies and generate novel data resources for AS, we explored 100 human datasets and 130 mouse datasets from Mecp2-mutant models, processing data for gene expression and alternative splicing. Our comparative analysis across studies indicates common species-specific differentially expressed genes (DEGs) and differentially alternatively spliced (DAS) genes. Human and mouse dysregulated genes are involved in two main functional categories: cell-extracellular matrix adhesion regulation and synaptic functions, the first category more significantly enriched in human datasets. Our extensive bioinformatics study indicates, for the first time, a significant dysregulation of AS in human RTT datasets, suggesting the crucial contribution of altered RNA processing to the pathophysiology of RTT.

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12. Hasan H, Santos ER, Amrei SAM, Tassone F, Randol JL, Hagerman P, Hagerman RJ. Novel p.Arg534del Mutation and MTHFR C667T Polymorphism in Fragile X Syndrome (FXS) With Autism Spectrum Phenotype: A Case Report. Case Rep Genet. 2025; 2025: 9751565.

Fragile X syndrome (FXS) presents with autism spectrum disorder (ASD), intellectual disability, developmental delay, seizures, hypotonia during infancy, joint laxity, behavioral issues, and characteristic facial features. The predominant mechanism is due to CGG trinucleotide repeat expansion of more than 200 repeats in the 5’UTR (untranslated region) of FMR1 (Fragile X Messenger Ribonucleoprotein 1) causing promoter methylation and transcriptional silencing. However, not all patients presenting with the characteristic phenotype and point/frameshift mutations with deletions in FMR1 have been described in the literature. It is believed that < 1% of cases are caused by point mutations. Genetic and functional testing of point mutations in FXS has yielded insights on KH domain RNA-binding properties of FMRP (Fragile X Messenger Ribonucleoprotein Protein) and nuclear export of the protein. Here, we report a c.1599_1601del p.Arg534del novel mutation in FMR1 with homozygous C677T MTHFR polymorphism in a 12-year-old boy. He presents with unique phenotype of FXS with ASD, developmental delay, nonverbal learning disorder (NVLD), overall IQ in the 5(th) percentile with above average verbal IQ (66(th) percentile), difficulties with quantitative reasoning, dyspraxia, below average visual-spatial skills (2(nd) percentile), difficulty with social pragmatics and social understanding, and executive dysfunction. He has a strong aptitude for music and exceptional aural skills. Identification of novel variants has helped in understanding functional aspects of FMRP. In addition, it aids families in genetic counseling and in administering therapies for children with FXS who present with atypical features.

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13. Igliozzi R, Cagiano R, Berni M, Pecini C, Viglione V, Masi G, Muratori F, Calderoni S, Tancredi R. Effects of Difficulties in Executive Functions on Behavioral and Adaptive Problems in Italian Autistic Preschoolers. Clin Neuropsychiatry. 2024; 21(6): 509-23.

OBJECTIVE: To describe the relationship between executive functions (EF) and symptom’s severity, behavioral problems, and adaptive functioning in autistic preschoolers. METHOD: Seventy-six autistic preschoolers (age-range: 37-72 months; SD: 8.67 months) without intellectual disability were assessed. Executive functions were measured by both performance-based (Battery for Assessment of Executive Functions -BAFE-) and indirect measures (Behaviour Rating Inventory of Executive Function – Preschool Version -BRIEF-P); adaptive skills were assessed using the Vineland Adaptive Behavior Scales Second Edition (VABS-II); ASD severity was evaluated through the ADOS-2 and the SCQ; the Child Behavior Checklist (CBCL ½-5) questionnaire was used to describe the emotional/behavioral profile. RESULTS: A considerable rate of autistic preschoolers showed weaknesses in one or more measures of EF, in particular in inhibition and working memory at both performance-based and parent report measures. EF measures explained a significant proportion of variance in the emotional/behavioral profile, and in the adaptive skills, particularly in the socialization domain. Specifically, the most relevant EF predictors are Inhibition, Emotional Control and Cognitive Flexibility subscales of the BRIEF-P. CONCLUSIONS: Assessment of EF in autistic preschoolers may identify those children at higher risk for emotional/behavioral problems and adaptive difficulties. EF are a crucial target for early intervention in preschoolers with autism with the potential to improve child outcomes.

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14. Iskafi R, AbuRahmeh B, Aljuneidi R, AlShweiki H, Abdelnabi S, Abukhalaf A, Maraqa B. A Case of Rafiq Syndrome (MAN1B1-CDG) in a Palestinian Child, With Brief Literature Review of 44 Cases. J Investig Med High Impact Case Rep. 2025; 13: 23247096251313731.

Rafiq syndrome, MAN1B1-CDG, was described in 2010 and associated with genetic mutation in MAN1B1 gene in 2011. The disorder follows an autosomal recessive pattern of inheritance and typically presents with specific facial dysmorphism, intellectual disability, developmental delay, obesity, and hypotonia. The syndrome belongs to a group of metabolic disorders called Congenital Glycosylation Disorders (CGD). In this study, we discuss a 5-year-old male from Palestine who presented with developmental delay, hypotonia, characteristic facial dysmorphisms, impulsive behaviors, inability to speak, cryptorchidism, and other manifestations. This constellation of manifestations raised suspicion of a genetic disorder, prompting whole exome sequencing (WES), which revealed the presence of a homozygous likely pathogenic variant in the MAN1B1 gene (c.1976T>G)(p.Phe659Cys). We also reviewed all previously documented cases and compared the clinical features among them. After reviewing the family pedigree and its suspected cases, we found that the 2 most frequent features among them are intellectual disability and facial dysmorphism, whereas the least frequent one is truncal obesity. We discussed the importance of providing genetic counseling to parents of children with this and other rare, autosomal recessive disorders to prevent new cases from appearing.

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15. Jellinek-Russo E, Keller-Margulis M, Mire SS, Lozano I, Duran B, Fein RH, Gonzalez J, Day SX. The Transition to Kindergarten for Hispanic and Latine Autistic Children: A Focus Group Study with Caregivers. J Autism Dev Disord. 2025.

PURPOSE: Past research highlights the different facilitators and barriers that caregivers of children on the autism spectrum experience during the transition to kindergarten and when navigating special education services. Caregivers who identify as Hispanic and/or Latine may face distinct challenges during this process, such as language differences, differences in understanding autism and special education, and barriers to advocating for their child. Hispanic and Latine caregivers also have strengths, resources, and strategies (i.e. cultural capital) that they use during this time. However, there is little research aimed at understanding the unique experiences of Hispanic and Latine caregivers of autistic children during their entry to kindergarten. METHODS: To address this shortcoming, the current study used qualitative methods and thematic analysis to explore the transition to kindergarten experiences of four caregivers of autistic children. RESULTS: This study identified strengths, supportive practices, and challenges that participants experienced fell under four major themes: importance of proactive and ongoing partnerships between caregivers and schools, navigating unfamiliar language and processes, the need for dissemination of information about autism to teachers and support from trusted systems. Themes highlighted challenges such as communication differences, unfamiliar school processes, community and teacher misconceptions about autism. Facilitators the transition included proactive communication, shared goals and partnerships with school. Yosso’s Community Cultural Wealth Framework is integrated into the discussion of themes and the forms of cultural capital participants used to support their child. CONCLUSION: Recommendations for practice and research to support Hispanic and Latine autistic children during the kindergarten transition are provided.

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16. Kasitipradit K, Thongkorn S, Kanlayaprasit S, Saeliw T, Lertpeerapan P, Panjabud P, Jindatip D, Hu VW, Kikkawa T, Osumi N, Sarachana T. Sex-specific effects of prenatal bisphenol A exposure on transcriptome-interactome profiles of autism candidate genes in neural stem cells from offspring hippocampus. Sci Rep. 2025; 15(1): 2882.

Bisphenol A (BPA), an endocrine-disrupting chemical, is increasingly linked to the pathogenesis of autism spectrum disorder (ASD). This study investigates the effects of prenatal BPA exposure on neural stem cells (NSCs) from the hippocampi of rat offspring, a brain region critical for neurodevelopment and implicated in ASD. Pregnant rats were administered with BPA or vehicle control once daily via oral gavage from gestational day 1 until parturition. NSCs were isolated from the offspring’s hippocampi on postnatal day 1, and RNA sequencing was performed to examine transcriptomic alterations. Differentially expressed genes (DEGs) were identified through RNA-seq and further analyzed using Ingenuity Pathway Analysis (IPA) to explore disrupted pathways. In addition, in vitro proliferation assays were conducted, utilizing immunofluorescence staining for Sox2, a stem cell marker, and BrdU to quantify proliferating NSCs. Our results revealed that prenatal BPA exposure induced sex-specific alterations in NSC gene expression, with ASD-related genes such as Atp1a3, Nefl, and Grin1 being particularly dysregulated in male offspring. Moreover, sex-specific changes in NSC proliferation were observed. The study underscores BPA’s potential as an environmental risk factor for ASD, emphasizing the need for further research into its role in sex-specific neurodevelopmental effects.

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17. Keshavarz S, Esmaeilpour K. Relationship between social anxiety and separation anxiety symptoms with insistence on sameness with the mediating role of sensory hypersensitivity. BMC Psychol. 2025; 13(1): 62.

BACKGROUND: Autism spectrum disorder (ASD) is characterized by impairments in social communication and interaction, restricted and repetitive patterns of behavior, and sensory processing abnormalities. These core features are often accompanied by comorbid anxiety disorders. However, the sequence and mechanisms of these associations warrant further investigation. Therefore, the aim of this study was to examine the relationship of social anxiety and separation anxiety on insistence on sameness, mediated by sensory hypersensitivity. METHODS: This was a cross-sectional study based on caregiver reports of 247 children, aged 7 ̶ 11 years. The parents completed the Autism Quotient-Children’s Version (AQ-C), the Repetitive Behavior Questionnaire-2 (RBQ-2), the Sensory Profile 2 (SP2), and the Spence Children’s Anxiety Scale-Parent Version (SCAS-P). RESULTS: The path analysis revealed a significant indirect effect of social anxiety and separation anxiety on insistence on sameness via sensory hypersensitivity (p ≤ 0.05). However, neither social anxiety nor separation anxiety had a significant direct effect on insistence on sameness (p = 0.108 and p = 0.342, respectively). CONCLUSIONS: Based on the results, the mediated association of sensory hypersensitivity with the relationship between social anxiety, separation anxiety, and insistence on sameness was observed. The article discusses the theoretical explanations and implications of the results, as well as various manifestations of anxiety symptoms in children with ASD.

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18. La Valle C, Mejia GD, Wilkinson CL, Baumer N. Examining Concurrent Associations Between Gesture Use, Developmental Domains, and Autistic Traits in Toddlers With Down Syndrome. J Speech Lang Hear Res. 2025: 1-11.

PURPOSE: Toddlers with Down syndrome (DS) showcase comparable or higher rates of gestures than chronological age- and language-matched toddlers without DS. Little is known about how gesture use in toddlers with DS relates to multiple domains of development, including motor, pragmatics, language, and visual reception (VR) skills. Unexplored is whether gesture use is a good marker of social communication skills in DS or if gesture development might be more reliably a marker of motor, language, pragmatics, or VR skills. This study examined the concurrent association of gesture use on other areas of development and investigated the association of autistic traits with gesture use in toddlers with DS. METHOD: Thirty toddlers with DS (15 females; M = 26.12 months, SD = 6.42 months) completed the Mullen Scales of Early Learning (MSEL) and the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2). Parents completed the MacArthur-Bates Communicative Development Inventories Words and Gestures form and the Language Use Inventory (LUI; pragmatic language) about their child. RESULTS: Controlling for child chronological age and sex, total gestures was strongly positively associated with the LUI total score (pragmatic language) and MSEL language (receptive, expressive) raw scores, moderately positively associated with motor (fine, gross) raw scores, but not significantly associated with VR raw scores. Higher ADOS social affect (SA) calibrated severity scores was strongly negatively associated with total gestures but not significantly associated with restricted and repetitive behaviors. CONCLUSIONS: Gestures track together with language, pragmatics, and motor skills. Higher ADOS SA calibrated severity scores were associated with fewer gestures in toddlers with DS. Clinicians can consider each child’s developmental profile (e.g., motor, pragmatics, language, social communication skills) to better understand their gesture development. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.28169186.

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19. Myat P, John JR, Montgomery A, Eapen V. Sociocultural and perinatal health factors associated with Autism spectrum disorder (ASD) in children. Compr Psychiatry. 2025; 138: 152576.

While previous research has examined perinatal factors in the context of Autism Spectrum Disorder (ASD), studies focusing on sociocultural factors is limited. We conducted a cross-sectional analysis utilizing data from the Australian Autism Biobank (AAB), which encompasses autistic children aged 2-17, their siblings, parents, and unrelated controls. Employing multivariable regression analyses, we aimed to identify factors associated with ASD across various domains, spanning health and lifestyle, perinatal, and postnatal contexts. Importantly, our analyses were adjusted for critical sociodemographic covariates. Advanced maternal age, male sex at birth, and identifying as from culturally and linguistically diverse (CALD) background, were found to be associated with risk of ASD. Pre-existing chronic health conditions in both parents and paternal medication use before conception were also associated with ASD risk in children. Associations with complications during pregnancy, caesarean delivery, and maternal medication use during pregnancy were also found. Postnatal factors of interest included the presence of health conditions (e.g., epilepsy), infections in early-life (e.g., respiratory infections), and atypical development in the first six months of life (e.g., hypotonia). These insights can guide closer monitoring and support for those with pre-existing vulnerabilities especially in terms of certain perinatal and sociocultural characteristics.

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20. Norbom LB, Syed B, Kjelkenes R, Rokicki J, Beauchamp A, Nerland S, Kushki A, Anagnostou E, Arnold P, Crosbie J, Kelley E, Nicolson R, Schachar R, Taylor MJ, Westlye LT, Tamnes CK, Lerch JP. Probing Autism and ADHD subtypes using cortical signatures of the T1w/T2w-ratio and morphometry. Neuroimage Clin. 2025; 45: 103736.

Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) are neurodevelopmental conditions that share genetic etiology and frequently co-occur. Given this comorbidity and well-established clinical heterogeneity, identifying individuals with similar brain signatures may be valuable for predicting clinical outcomes and tailoring treatment strategies. Cortical myelination is a prominent developmental process, and its disruption is a candidate mechanism for both disorders. Yet, no studies have attempted to identify subtypes using T1w/T2w-ratio, a magnetic resonance imaging (MRI) based proxy for intracortical myelin. Moreover, cortical variability arises from numerous biological pathways, and multimodal approaches can integrate cortical metrics into a single network. We analyzed data from 310 individuals aged 2.6-23.6 years, obtained from the Province of Ontario Neurodevelopmental (POND) Network consisting of individuals diagnosed with ASD (n = 136), ADHD (n = 100), and typically developing (TD) individuals (n = 74). We first tested for differences in T1w/T2w-ratio between diagnostic categories and controls. We then performed unimodal (T1w/T2w-ratio) and multimodal (T1w/T2w-ratio, cortical thickness, and surface area) spectral clustering to identify diagnostic-blind subgroups. Linear models revealed no statistically significant case-control differences in T1w/T2w-ratio. Unimodal clustering mostly isolated single individual- or minority clusters, driven by image quality and intensity outliers. Multimodal clustering suggested three distinct subgroups, which transcended diagnostic boundaries, showing separate cortical patterns but similar clinical and cognitive profiles. T1w/T2w-ratio features were the most relevant for demarcation, followed by surface area. While our analysis revealed no significant case-control differences, multimodal clustering incorporating the T1w/T2w-ratio among cortical features holds promise for identifying biologically similar subsets of individuals with neurodevelopmental conditions.

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21. Paynter J, Sommer K, Cook A. How can we make therapy better for autistic adults? Autistic adults’ ratings of helpfulness of adaptations to therapy. Autism. 2025: 13623613251313569.

Autistic people experience more mental health conditions like depression or anxiety than non-autistic people. They are also more likely to experience difficulties in accessing mental health supports Clinicians have published suggestions on how to improve therapy for autistic people. However, whether these ways to adapt (i.e. adaptations) therapy for autistic people are seen as helpful by autistic people themselves has not been investigated. We recruited 130 autistic adults to complete an online survey. They rated 55 adaptations to therapy from « Not at all helpful » to « Extremely helpful. » We also asked for ideas of additional adaptations. Adaptations classified as neurodiversity affirming (e.g. having a therapist that embraces differences in brains and provides support to affirm neurodivergent identity) were rated highest. Approximately half of adaptations were rated positively at a group level. However, for almost every adaptation at least one person rated it as not at all helpful and at least one rated it as extremely helpful. Additional adaptations were around general good practice, financial cost, neurodiversity-affirming practices, practical, sensory/environmental, structure, and therapy style/techniques. Our findings add how helpful autistic people themselves rate adaptations to therapy and similarities and differences to clinicians. This is important to consider how these perspectives can differ. Findings also identify additional suggestions that clinicians could use in their practice and ideas for future research. Findings can help autistic adults in advocating for adaptations to therapy that address their needs by providing a list of possible adaptations. Furthermore, findings may help clinicians to better support their autistic clients.

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22. Swanepoel A. ADHD and ASD are Normal Biological Variations as part of Human Evolution and are not « Disorders ». Clin Neuropsychiatry. 2024; 21(6): 451-4.

Recent developments driven by people with attention-deficit hyperactivity disorder (ADHD) and/or autism spectrum disorder (ASD) have highlighted that far from being disorders, ADHD and/or ASD can be seen as natural variations in neurodevelopment. The neurodiversity movement acknowledges that people with ADHD and/or ASD have specific strengths, that can help them outperform neurotypical individuals in certain situations and that these conditions should therefore not be seen as disorders. This view is supported by evolutionary science, which can be used as a framework to understand ADHD and/or ASD as natural variations that were not eliminated by natural selection due to their benefit to the individual and group in certain situations. The evolutionary perspective supports neurodiversity as relevant and important in helping our species thrive.

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23. Tafolla M, Singer H, Lord C. Autism Spectrum Disorder Across the Lifespan. Annu Rev Clin Psychol. 2025.

Autism is a neurodevelopmental condition that affects individuals worldwide throughout their lives. Copious advances in research have enhanced our understanding of autism significantly since Dr. Leo Kanner’s first description of the condition in 1943. This review aims to provide an overview of our current knowledge of autism, examining its manifestations across age, race, gender, and co-occurring conditions (e.g., intellectual disability) from childhood through adulthood. We also focus on the identification and diagnosis of autism, long-term outcomes with a spotlight on adulthood, and appropriate supports and interventions across different developmental stages for autistic individuals and their families. We stress the importance of a lifespan perspective that considers the evolving needs of individuals with autism as they age, and we highlight the role of longitudinal research.

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24. Tajadod S, Roumi Z, Abbas Torki S, Mousavi Shalmani SH, Moradi M, Saeedirad Z, Abbasi Mobarakeh K, Mohammadi S, Shekari S, Mirzaee P, Bahmani P, Houshyar-Rad A, Doaei S. The Association Between Autism Spectrum Disorders and Dietary Intake of Carbohydrates in School-Aged Children in Iran: A Case-Control Study. Neuropsychopharmacol Rep. 2025; 45(1): e12521.

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with both genetic and environmental risk factors. Imbalanced dietary Intake has recently been proposed as a possible environmental risk factor for ASD. The purpose of this study was to investigate the possible connection between ASD and intake of various carbohydrate types. METHODS: 110 patients with autism from 5 to 15 years of age have been included as the case group and 110 neurotypical children who are part of a similar age category have been chosen as controls for this case-control study. To estimate the dietary intake of carbohydrates, a validated food frequency questionnaire (FFQ) was used. RESULTS: Positive connections were found between ASD and the intake of sugar (OR = 1.03, CI 95%: 1.02-1.06, p = 0.001), and maltose (OR = 2.09, CI 95%: 1.37-3.20, p = 0.001). A reverse correlation was found between ASD and dietary intake of carbohydrates (OR = 0.97, CI 95%: 0.96-0.98, p = 0.001), fructose (OR = 0.85, CI 95%: 0.77-0.94, p = 0.002), and lactose (OR = 0.89, CI 95%: 0.83-0.96, p = 0.002). CONCLUSION: This study showed a direct link between autism and the intake of sugar and maltose and an inverse connection between autism and the dietary intake of total carbohydrate, fructose, and lactose. There is a need to carry out additional long-term studies.

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25. van der Lubbe A, Swaab H, van den Akker E, Vermeiren R, Ester WA. Hair Cortisol in Young Children with Autism and Their Parents: Associations with Child Mental Health, Eating Behavior and Weight Status. J Autism Dev Disord. 2025.

Children with autism and their parents face daily challenges that may be stressful for both. However, little is known about biological stress (hair cortisol concentrations [HCC]) in these families and its connection to children’s health outcomes. This study investigates biological stress in children with autism and their parents and its associations with child mental health, eating behavior and BMI. Stress was measured in 102 young children with autism and their parents (101 mothers, 86 fathers) using HCC and self-reported parenting stress (OBVL). Child mental health was measured through autism symptoms (ADOS-2, SRS-2) and problem behavior (CBCL). Child eating behavior (CEBQ) and BMIz were also measured. Children with autism had higher HCC than their peers. Child HCC was not linked to mental health, eating behavior, or BMIz. Maternal stress (self-reported and HCC) was associated with child problem behavior. In fathers, self-reported parenting stress correlated with child autism symptoms (SRS-2) and behavior problems. Both parents’ self-reported stress was associated with child eating behavior, specifically emotional undereating and overeating. In conclusion, higher HCC levels in children with autism in comparison to children from the general population, suggest differences in stress-regulation in children with autism. Given these findings, monitoring HCC in research and clinical practice could improve our understanding of stress-regulation in children with autism. The association between parental stress and children’s mental health and eating behaviors, underscores the importance of considering family dynamics in clinical (preventive) interventions and in further research that addresses the mental and physical health of children with autism.

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26. Zhang W, Cai K, Xiong X, Zhu L, Sun Z, Yang S, Cheng W, Mao H, Chen A. Alterations of triple network dynamic connectivity and repetitive behaviors after mini-basketball training program in children with autism spectrum disorder. Sci Rep. 2025; 15(1): 2629.

Physical exercise has been demonstrated to effectively mitigate repetitive behaviors in children with autism spectrum disorder (ASD), but the underlying dynamic brain network mechanisms are poorly understood. The triple network model consists of three brain networks that jointly regulate cognitive and emotional processes and is considered to be the core network underlying the aberrant manifestations of ASD. This study investigated whether a mini-basketball training program (MBTP) could alter repetitive behaviors and the dynamic connectivity of the triple network. 28 male children with ASD were scanned twice with resting-state functional MRI and assessed for repetitive behaviors using the repetitive behavior scale (RBS-R). 15 children in the exercise group participated in a 12-week MBTP, while 13 in the control group maintained their regular routines. The feature of Dynamic independent component analysis (dyn-ICA) is its ability to capture the rate of change in connectivity between brain regions. In this study, it was specifically employed to examine the triple network dynamic connectivity in both groups. Compared to the control group, the exercise group exhibited distinct dynamic connectivity patterns in two networks: Network 1 involved cross-network dynamic connectivity changes within the triple network, and Network 2 pertained to dynamic connectivity alterations within the default mode network. Furthermore, a reduction in the RBS-R Total score was observed in the exercise group, reflecting improvements in self-injurious behavior and restricted behavior. Correlation analysis revealed that the amelioration of repetitive behaviors was associated with enhanced dynamic connectivity in parts of the triple network. These findings suggest that MBTP can improve repetitive behaviors in ASD children and is linked to changes in triple network dynamic connectivity.

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