1. Ayoub G. Autism Spectrum Disorder as a Multifactorial Disorder: The Interplay of Genetic Factors and Inflammation. Int J Mol Sci;2025 (Jul 5);26(13)

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by difficulty with social communication, behavior, and sensory integration. With its prevalence rising worldwide in recent decades, understanding and mitigating the origins of ASD has become a priority. Though its etiology is multifactorial, the current research highlights two major contributors, genetic susceptibilities and environmental inflammatory exposures, leading to oxidative stress during critical developmental periods. We explore how genetic variations, including those affecting cerebral folate metabolism, and various inflammatory triggers, including exposure to inflammatory agents during both the fetal and post-fetal period, intersect to influence the development of ASD, giving rise to specific symptoms seen in autism.

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2. Chen H, Wood JJ, Kerns CM, Storch EA, Kendall PC, Scerif G, Creswell C. How well can commonly used anxiety scales detect treatment outcomes in the context of autism?. Autism;2025 (Jul 5):13623613251349929.

Anxiety is one of the most prevalent mental health challenges in autistic children, yet there is limited evidence on effective tools to measure treatment outcomes. Previous research with non-autistic children has found that the Child Anxiety Impact Scale, Parent Version achieved good diagnostic accuracy when measuring treatment outcomes and performed better than a commonly used symptom measure. However, this has not been evaluated for autistic children. The present study examined the psychometric properties of the Child Anxiety Impact Scale, Parent Version in autistic children and compared its utility against other anxiety symptom measures, to detect treatment outcomes as assessed by a gold-standard diagnostic interview, the Anxiety and Related Disorders Interview Schedule, Child Version, Parent Interview with the Autism Spectrum Addendum. Data were used from 212 children (aged 7-13 years) who participated in a randomised controlled trial. Receiver-operating characteristic curve analyses were conducted, and subsequent subgroup analyses were conducted using DeLong tests. Results demonstrated that the Child Anxiety Impact Scale, Parent Version had strong psychometric properties, with total scores significantly outperforming other measures in predicting post-treatment recovery from anxiety diagnoses. These findings have implications for future choices of treatment outcome measures in research and clinical practice.Lay abstractStudy on the utility of anxiety scales to detect anxiety diagnostic treatment outcomes in autistic childrenWhy was the study done? The importance of having valid and reliable anxiety measures for autistic children has been highlighted as a research priority by professionals and people with lived experience. Yet, while anxiety has been frequently assessed in autistic children, we do not currently know much about how well commonly used anxiety measures work, especially parent reports, in this context. This has significant implications for care planning and resource allocation for autistic children who experience significant anxiety problems.What did the researchers do? The research team studied data collected in a previously published multi-centred randomised controlled trial (RCT) testing an adapted cognitive behavioural therapy for anxiety (Wood et al., 2020) to better understand how different anxiety measures did, compared to gold-standard anxiety diagnostic assessments, in detecting treatment outcomes. They focused in particular on the Child Anxiety Impact Scale, Parent Version (CAIS-P).What did the researchers find? This study found that the CAIS-P did better than conventional anxiety symptom measures in detecting treatment outcomes for anxiety problems in autistic children.What do the findings mean? This study adds to the current evidence base to inform choices of measurement of anxiety problems in the context of autism.

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3. Dvir T, Elefant C, Rabinowitch TC. Group Interpersonal Synchrony Increases Prosocial Behavior in Young Autistic Adults: A Randomized Controlled Trial. J Autism Dev Disord;2025 (Jul 5)

Dance movement therapists use interventions in which participants share synchronous movement to enhance well-being and increase social skills among autistic individuals. However, there is limited research about the effects of synchronized interventions on interpersonal and intrapersonal outcomes of autistic individuals. This field study evaluated the immediate and long-term impacts of a movement-based synchronized group intervention on prosocial behavior, social cohesion, and work-related stress among young autistic adults. A randomized controlled trial was conducted to investigate two movement-based group intervention conditions: synchronous and non-synchronous. Fifty-four young adults, aged 18-22, enrolled in an innovative program integrating young autistic adults into the Israeli army workforce. One-hour-long movement-based intervention sessions took place once a week for six to seven weeks, and data was collected at three time points: before and after the intervention period, and 17 weeks after it ended. Results suggest that the synchronized intervention may be more effective than the non-synchronized intervention in enhancing cooperative behavior after 17 weeks and fostering social closeness with familiar peers post-intervention. However, the synchronized intervention may not be more effective in reducing work-related stress. A holistic approach is discussed, which integrates synchronized and non-synchronized movement-based group interventions for young autistic individuals transitioning into work environments.Trial Registration ClinicalTrials.gov (ID: NCT05846308; URL: https://clinicaltrials.gov/ct2/show/NCT05846308 ).

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4. Giniatullin R, Cherubini E. Gabaergic signalling in Autism Spectrum disorders (ASD): Role of glial cells and therapeutic perspectives. Brain Behav Immun;2025 (Jul 5);129:681-689.

During postnatal development, GABA, the major inhibitory neurotransmitter in the adult brain, depolarizes immature neurons via an outward flux of chloride. This effect results from the high intracellular chloride concentration due to activity of the cation- chloride importer NKCC1. GABA induced depolarization gives rise to Giant Depolarizing Potentials (GDPs), a primordial form of coherent network oscillations involved in neuronal networks refinement. After a critical postnatal period, the increased expression of the chloride exporter KCC2, shifts GABA’s action from depolarizing to hyperpolarizing, a process altered in many neurodevelopmental disorders including ASD. The development of sharp waves ripples, a form of network oscillations implicated in memory consolidation, is controlled by GABAergic signalling at the axon initial segment (AIS). The formation and functioning of the AIS are monitored by a special subtype of microglia located at AIS axo-axonic synapses. The persistent depolarizing action of GABA beyond the critical period or its early hyperpolarizing action, as well as aberrant formation/function of AIS, lead to changes in neuronal circuits responsible for cognitive dysfunctions in ASD. In this review, considering various models of ASD, we discuss the multifaceted role of GABA, the regulation of cation-chloride cotransporters by astrocytes and microglia, the functional role of the latter in AIS, and the emerging role of brain-derived neurotrophic factor in ASD. Accordingly, we present novel therapeutic strategies which, could reinstate a proper chloride homeostasis and GABAergic signalling in selective neuronal circuits involved in behavioural and cognitive deficits observed in ASD.

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5. 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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6. 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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7. Langley E. Father Involvement in the Lives of Their Children With Intellectual and Developmental Disabilities in the UK. J Appl Res Intellect Disabil;2025 (Jul);38(4):e70091.

BACKGROUND: Father involvement in parenting has received scarce attention in the disability field. This qualitative study explored the involvement, roles and responsibilities of fathers of individuals with Intellectual and Developmental Disabilities (aged 5-24 years). METHODS: Thirteen fathers participated in online, semi-structured interviews. Fathers were asked to describe their involvement in caregiving, their roles and responsibilities, and the factors that had an impact on these domains. RESULTS: Fathers were involved in the direct and indirect care of their child, and provided support for their partner and any siblings, alongside work commitments. A range of individual, interpersonal and contextual factors impacted their involvement and parenting role. CONCLUSIONS: Fathers play an important role in the lives of children with Intellectual and Developmental Disabilities. Ways in which services could improve the quantity and quality of paternal involvement in parenting are discussed.

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8. 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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9. Manning C, Mohan G, Maher L, Khan A, Tyler SL. Our understanding of autistic sensory processing is limited by our questionnaire measures. Autism;2025 (Aug);29(8):1915-1920.

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10. Miller S, Holyfield C, Griffen B, Lorah E, Caldwell NS, Caron J. Effect of AAC intervention on communication within social routines from preschool-age emerging symbolic communicators with developmental disabilities. Augment Altern Commun;2025 (Jul 5):1-14.

Preschool-age children learn, build social connections, and develop language through social interactions. Preschool-age emerging symbolic communicators with developmental disabilities require augmentative and alternative communication (AAC) intervention to communicate linguistically (i.e., using language) in social interactions. The current study evaluated the effect of an AAC intervention including high-tech color photo visual scene displays (VSDs) and least-to-most prompting on linguistic communication in social routines within song singing activities from six preschoolers who were emerging symbolic communicators and had developmental disabilities, including autism. The study used a multiple baseline across participants single-subject research design. All six participants demonstrated increased linguistic communication in the social routines as the result of the AAC intervention, though variability in communication was observed across and within participants. Furthermore, increases in communication within the routines largely maintained after prompting was removed in the maintenance phase. Increases also largely generalized to linguistic communication using a high-tech grid display featuring the same color photos from the VSDs as representation. More research is needed, but the current intervention is a promising approach to supporting emerging symbolic communicators in communicating linguistically in social routines.

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11. Minghui Q, Wang Y, Chen B, Sun S, Hu Q, Chen L, Xu S. The effects of rTMS and tDCS on repetitive/stereotypical behaviors, cognitive/executive functions in intellectually capable children and young adults with autism spectrum disorder: A systematic review and meta-analysis of randomized controlled trials. Res Dev Disabil;2025 (Jul 5);164:105076.

OBJECTIVE: This study aims to evaluate the efficacy of repetitive transcranial magnetic stimulation (rTMS) and transcranial direct current stimulation (tDCS) on repetitive/stereotypical behaviors and cognitive/executive functions in children and young adults with intellectually capable autism spectrum disorder (IC-ASD). METHODS: Literature searches across PubMed, Web of Science, Cochrane Library, Embase, and Scopus were performed to identify randomized controlled trials (RCTs) evaluating the efficacy of rTMS and tDCS in children and young adults with IC-ASD. The search encompassed articles published up to April 25, 2025. The standardized mean difference (SMD) with 95 % confidence intervals (CI) was calculated and pooled. Sensitivity and subgroup analyses were conducted to assess potential sources of heterogeneity and refine the robustness of the findings. RESULTS: This meta-analysis included 18 RCTs involving 813 participants. Compared with sham interventions, tDCS demonstrated significant improvements in social communication, repetitive and stereotypical behaviors, cognitive and executive functions among individuals with IC-ASD (e.g., Social Responsiveness Scale: SMD = -0.48; 95 % CI: -0.75 to -0.22; p < 0.01). Similarly, rTMS improved social communication, repetitive and abnormal behaviors (Social Responsiveness Scale: SMD = -0.21; 95 % CI: -0.42 to -0.00; p < 0.05; Repetitive Behavior Scale-Revised: SMD = -0.62; 95 % CI: -1.17 to -0.07; p = 0.04; Aberrant Behavior Checklist: SMD = -0.53; 95 % CI: -0.79 to -0.26; p < 0.01). No significant heterogeneity was observed across studies. CONCLUSION: tDCS and rTMS may enhance cognitive and executive functions and reduce repetitive behaviors in children and young adults with IC-ASD. However, these findings require careful interpretation due to the limited high-quality studies and variability in treatment protocols. Future research should prioritize the development of standardized protocols to address inconsistencies in stimulation parameters (including frequency, intensity, and duration) and core outcome sets. Additionally, larger-scale, rigorously blinded multi-center RCTs are necessary to accurately evaluate the clinical efficacy and applicability of these neuromodulation techniques in these populations.

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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. Rao MG, Wen T, D’Alton M, Logue TC, Friedman A, Zork N. Adverse outcomes during delivery hospitalizations among patients with an intellectual or developmental disability diagnosis. Am J Obstet Gynecol;2025 (Jul 2)

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