1. Adamis D, Langan N, Gavin B, McNicholas F. Coexistence of autism spectrum disorder traits in adults diagnosed with attention-deficit/hyperactivity disorder: longitudinal outcomes. Ir J Psychol Med. 2025: 1-10.

OBJECTIVES: To estimate the coexistence of autism spectrum disorder (ASD) traits in an adult sample diagnosed with attention-deficit/hyperactivity disorder (ADHD); to compare individuals with ASD traits to those without, in terms of functionality, quality life and clinical outcomes; to explore the effects of ADHD medication on three main outcomes (clinical, quality of life, and functionality) in those with only ADHD and in those with coexistence of ASD and ADHD. METHODS: Prospective longitudinal study of an adult sample diagnosed with ADHD. Data were collected on age, gender, medications and on scales: Autism Spectrum Quotient (AQ-10); Adult ADHD Clinical Outcome Scale; Adult ADHD Quality of Life Questionnaire; Weiss Functional Impairment Rating Scale. RESULTS: A sample of 165 participants was recruited. The AQ-10 showed that almost half, n = 74 (44.8%) of the participants had traits of ASD. Longitudinal analyses demonstrated that people with ADHD and ASD traits have worse clinical outcomes, quality of life, social skills, and family functioning, compared to those with ADHD only. CONCLUSIONS: The study shows a high rate of co-existence of ASD in adults with ADHD. Comorbid ASD traits were associated with poorer overall clinical and functional outcomes, quality of life, social skills, and family functioning. Study limitations with particular reference to dropout rate are considered. Implications for improving services are discussed.

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2. Bai Y, Poliakoff E, Gowen E. Perception of Biological Motion and Actions in Autism: a Systematic Review. Neurosci Biobehav Rev. 2025: 106343.

Detecting and recognising the Biological Motion (BM) of other people provides essential information to understand others’ actions and intentions, thus facilitating social interactions. Difficulties with social interaction are a hallmark of autism and may stem from altered perceptual recognition or interpretation of others’ actions. This systematic review investigates whether BM perception in autistic individuals is influenced by the different categories of BM processing and the methodological differences between different BM paradigms. It also explores potential overlap between performance in non-biological motion tasks and BM perception. A total of 51 empirical studies compared BM task performance between 1,066 autistic individuals and 1,086 non-autistic individuals. Autistic individuals demonstrated poorer performance in BM discrimination tasks that involved greater social cognition. There were no consistent patterns regarding methodological differences across the tasks, such as stimulus types, motion varieties, or level of instructions. Poorer performance in BM tasks was often mirrored in non-biological motion tasks, suggesting potential overlap in underlying processing mechanisms. Future research should explore a broader range of ages, directly compare performances across tasks, and level of instructions to advance understanding of perceptual processing in autism.

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3. Bsharat BA, Al-Duhoun AH, Ghanouni P, Alhusban R, Begeske J. Parents’ attitudes towards using assistive technologies for children with ASD in Jordan. Disabil Rehabil Assist Technol. 2025; 20(6): 1727-35.

This study aimed to evaluate the acceptance and attitudes of Jordanian parents toward assistive technology (AT) for children with autism spectrum disorder (ASD) using the Unified Theory of Acceptance and Use of Technology (UTAUT). In this cross-sectional study, 130 parents participated, most female (73.8%) and over 34 (70.8%). The majority (89.6%) reported that their children used smartphones, with 68.5% using them several times daily. Smartphones (89.6%) and iPads (24%) were the most frequently used technologies, while talking books (4%) and smart boards (2.4%) had the lowest usage. UTAUT results showed moderate agreement in most factors: effort expectancy (68.7%), performance expectancy (58.7%), and attitudes toward technology (65%). Notably, 47.8% of parents reported low social support for using AT, likely due to limited awareness and financial constraints. Regression analysis revealed that technology usage explained 41% of the variance in performance expectancy, while parental factors accounted for 43% of the variance in effort expectancy. Significant positive relationships were found between AT usage, behavioral intention, and actual use. These findings suggest that increasing technology usage and social support may enhance the adoption of AT for children with ASD. There is a need to increase the awareness towards assistive technology (AT) among Jordanian caregivers of people with autism spectrum disorder (ASD).There is need for clear and comprehensive guidelines to use AT for people with ASD.This study confirms the usability of the unified theory of acceptance and use of technology (UTAUT) to measure the technology adoption.This study highlights the amount of time using AT as the most critical variables while using AT in ASD. eng.

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4. Cimmino F, Petrella L, Cristiano C, Cavaliere G, Penna E, Pizzella A, Pirozzi C, Fogliano C, Coretti L, Lembo F, Canani RB, Avallone B, Crispino M, Trinchese G, Mollica MP. Autism spectrum disorders and nutritional interventions: dimethylglycine and B-vitamins effects on behaviour, inflammation, microbiota and mitochondria in liver and brain synapses. Biomed Pharmacother. 2025; 191: 118477.

Autism Spectrum Disorders (ASD) are complex neurodevelopmental conditions with a multifactorial etiology, where genetic and environmental interactions lead to cellular dysfunctions in the brain and peripheral tissues, associated with dysbiosis, inflammation, oxidative stress, and mitochondrial impairment. Emerging evidence highlights the critical role of the gut microbiota in the metabolic and neuroinflammatory imbalances observed in ASD. In this context, the liver plays a pivotal metabolic role, being closely connected to the gut and brain through metabolic pathways, influencing overall health. Since nutritional interventions and bioactive food compounds are key modulators of these processes, this study aims to investigate the effects of dietary supplementation with dimethylglycine and B group vitamins on the metabolic and inflammatory state of BTBR mice, a well-established model of ASD, focusing on the gut-liver-brain axis. Our findings indicate that dimethylglycine and B group vitamins administration in BTBR mice mitigates ASD-like behaviors. This beneficial effect may be the result of multiple mechanisms as decrease in oxidative stress and inflammatory state, modulation of gut microbiota and body composition, reduced hepatic steatosis, and improved mitochondria functions in liver, brain cortex and synaptic areas. These results suggest that dietary supplementation with dimethylglycine and B vitamins can positively modulate the gut-liver-brain axis in ASD, offering new insights into metabolic and neuroinflammatory interventions.

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5. Hu L, Ren K, Li Y, Xia Y, Chen G, Wang X, Luo C, Sun Y, Li D. Developmental exposure to methyl ester sulfonate induces autism-like behavioral deficits in mice by dysregulation of the Notch/Hes signaling pathway disrupting neuronal differentiation. Arch Toxicol. 2025.

Developmental exposure to environmental pollutants is increasingly recognized as a significant risk factor for autism spectrum disorder (ASD), yet the specific mechanisms by which individual toxicants contribute to this neurodevelopmental disorder remain largely unknown. Methyl ester sulfonate (MES), a widely used anionic surfactant with widespread environmental detection, lacks comprehensive evaluation for developmental neurotoxicity. Here, we exposed pregnant mice to environmentally relevant MES doses (0.06-6 mg/L) from gestational day 8.5 (GD8.5) to postnatal day 21.5 (PND21.5) and assessed their offspring for neurodevelopmental changes. Results showed dose-dependent ASD-like behavioral deficits, including impaired social interactions, heightened anxiety-like behaviors, and increased repetitive/stereotypic patterns. These behavioral anomalies were accompanied by neuropathological alterations, including blood-brain barrier disruption, neuronal loss, and reduced dendritic spine density, indicative of impaired synaptogenesis. Integrative transcriptomic analysis of hippocampal tissue revealed significant dysregulation of key pathways involved in neurodevelopment, prominently featuring the Notch/Hes signaling pathway. Molecular docking simulations suggested that MES could directly interact with Notch receptors, potentially disrupting ligand-receptor interactions. Further in vitro experimental validation demonstrated that MES exposure suppressed neural stem cell differentiation. Collectively, these findings provided evidence that early-life MES exposure acts as a neurodevelopmental toxicant by disrupting Notch/Hes signaling, thereby impairing neuronal differentiation and synaptogenesis, which underlined the observed ASD-like behavioral deficits in mice. This study offers novel mechanistic insights into how environmental factors contribute to ASD pathogenesis and highlights the need for toxicological assessment of widely distributed surfactants.

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6. MacIsaac MF, Fritz A, Crenshaw ML, Gardner L, Halsey JN, Rottgers SA. Autism Spectrum Disorder in the Cleft Population: Evaluating Occurrence in Non-Syndromic Patients. Cleft Palate Craniofac J. 2025: 10556656251368659.

ObjectiveThis study aimed to quantify the prevalence of autism spectrum disorder (ASD) in patients with non-syndromic orofacial clefts (OFCs) and to examine associated socio-demographic, phenotypic, and genetic factors. As a secondary objective, we evaluated ASD prevalence in the full OFC cohort, including syndromic cases, to provide context and enable comparison between groups.DesignA retrospective chart review was performed in this study.SettingThis study was conducted in a multidisciplinary cleft/craniofacial clinic at a tertiary children’s hospital.PatientsA total of 412 patients with OFC (ages 2-20) were evaluated between 2019 and 2024.Main Outcome MeasuresThe main outcome measures of interest were the occurrence of ASD diagnosis or concern, association with syndromic status, cleft phenotype, and socioeconomic context (measured using the Area Deprivation Index [ADI] and Child Opportunity Index [COI]).ResultsOverall, 7.0% of patients had a confirmed ASD diagnosis, and 7.5% had documented concern for ASD. Among patients with non-syndromic OFC (n = 293), 7.8% had a confirmed ASD diagnosis, which is 3.9 times higher than prior pooled estimates. When categorized by cleft phenotype, ASD diagnosis was highest in patients with cleft palate (CP) only (9.8%). Among non-syndromic patients, ASD was associated with higher ADI and lower COI scores, suggesting greater socioeconomic disadvantage; no associations were seen in the syndromic group. Genetic testing was pursued more frequently in patients with ASD, though pathogenic variant rates were not significantly different.ConclusionASD was more common among patients with non-syndromic OFC than previously reported in the literature or expected based on general population rates. Children with CP and those from disadvantaged backgrounds may be at particularly elevated risk within the current sample. Routine developmental surveillance in all OFC patients may support earlier ASD identification and intervention.

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7. Mavridou M, Kyriazidi MA, Varlamis S, Skepastianos P, Mitka S, Papaliagkas V, Chatzidimitriou M. Elucidating the interplay between gut microbiota and autism spectrum disorder. New insights and therapeutic perspectives. Acta Microbiol Immunol Hung. 2025.

Autism is a complex neurodevelopmental disorder characterized by a wide range of cognitive, behavioural and communication impairments. Children with autism have a distinctive and underdeveloped range and volume of gut bacteria (microbiome) which is often not related to their diet. Evidence gathered throughout years of research suggests that the pathway between gut bacteria and the central nervous system, referred to as the gut-brain axis (GBA), has a profound effect on the social behaviours of autistic children. The gut microbiome has been shown to play a vital role in the manifestation of autism spectrum disorder (ASD) symptoms as gut dysbiosis – an imbalance in the gut microbiome – affects brain development through processes regulated by the neuroendocrine, neuroimmune and autonomic nervous systems. Although dysregulation of the gut microbiome and subsequent disruption of GBA are thought to contribute to the pathogenesis of autism, the underlying mechanisms and the extent to which the microbiome contributes to neurodevelopmental disorders remain unclear. In this review, we focus on understanding the complex and multidirectional interplay between gut microbiota and ASD based on evidence mounted over the years. Furthermore, we examine how genomics, metabolomics and microbiome components can be integrated to unravel this multifactorial disorder. The ability to understand the underlying mechanisms involved in ASD will pave the way for future advancements in therapy and treatment.

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8. May D, Barshir R, Shahar M, Rose AJ, Shmueli D. Genetic Testing of Neurodevelopmental Disorders in Israel. JAMA Netw Open. 2025; 8(8): e2527464.

IMPORTANCE: Genetic testing is the criterion standard for diagnosing neurodevelopmental disorders (NDDs), with chromosomal microarray analysis (CMA) used as a first-line test for autism, intellectual disability, or global developmental delay. Despite advancements in genetic testing technologies and integration into health care systems, data on clinical use remain limited. OBJECTIVE: To evaluate genetic counseling and testing rates in patients with major NDDs and these individuals’ clinical and sociodemographic characteristics. DESIGN, SETTING, AND PARTICIPANTS: This longitudinal, retrospective, population-based cohort study analyzed electronic health records of individuals born between 2000 and 2020 and insured by Clalit Health Services, the largest health maintenance organization in Israel. Follow-up extended through December 6, 2023. Patients diagnosed with autism spectrum disorder, intellectual disability or global developmental delay, epilepsy, or cerebral palsy (major NDDs) were included. EXPOSURE: Neurodevelopmental disorders. MAIN OUTCOMES AND MEASURES: The outcome was the rate of genetic counseling, CMA testing, and NDD diagnosis measured using descriptive statistics. RESULTS: Of 2 406 763 individuals born in Israel between 2000 and 2020, 25 403 (1.06%; mean [SD] age at December 6, 2023, 11.9 [4.3] years; 68.7% male) were diagnosed with a major NDD. The cohort was predominantly of middle socioeconomic status (56.5%), and autism was the most common diagnosis (40.6%). Among 18 709 children indicated for CMA (ie, those with autism, intellectual disability or global developmental delay, or multiple diagnoses), 7233 (38.7%) received genetic counseling, and 4592 (24.5%) underwent testing (63.5% of those counseled). Genetic testing rates were higher in children with multiple co-occurring NDDs (1478 of 4005 [36.9%]) compared with those with autism alone (2189 of 10 311 [21.2%]). Genetic counseling rates were lowest for cerebral palsy and epilepsy as guidelines were less established. Genetic evaluation rates increased with more recent birth cohorts. While evaluation rates were similar across subpopulations for children with a diagnosis, initial autism diagnosis rates were 54% to 83% lower in lower socioeconomic status and minority populations, limiting access to counseling and testing. CONCLUSIONS AND RELEVANCE: A key finding of this cohort study was that more than one-third of patients who received genetic counseling did not undergo testing. Furthermore, low socioeconomic status and minority populations experienced drastic underdiagnosis of autism. These findings underscore the need for national initiatives to improve awareness and access to counseling and testing for all major NDDs and the recognition of autism in minority groups.

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9. Miao Y, Luo R, Lin F, Tong B, Yan J, Yang T, Sun Z, Li T, Xiao L, Chen J. Corrigendum to « Increasing indoxyl sulfate induces iNOS expression via aryl hydrocarbon receptor leading to microglia hyperactivation in the prefrontal cortex of autism-like offspring rats » [Neurosci. Lett. 862 (2025) 138298]. Neurosci Lett. 2025: 138358.

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10. Odeberg H, Ackermark P, Andersson U, van Geijt C, Jonsson K, Mårtensson B. [Early diagnosis of neurodevelopmental disorders (NDD)]. Lakartidningen. 2025; 122.

Comorbidity between NDD and chronic pain is common. For some pain patients, the NDD has not yet been diagnosed. Referral for diagnosis may interrupt and delay pain rehabilitation, which suggests that integration of such assessment could be beneficial. In 2022-2023 the Regional Pain Rehabilitation unit of Nyköping ran a project in which an external psychologist performed diagnostic assessments, together with the unit’s psychiatrist, of 20 patients with a suspected diagnosis of NDD. Nine patients were diagnosed with autism spectrum disorders and 10 with ADD/ADHD. At follow-up, a majority of these patients reported significantly improved overall health and well-being. For these patients, what dominated the clinical picture were the secondary consequences of their underlying developmental disorders, and the energy expended to compensate for them. How to address the needs of these patients is an important field of research.

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11. Ortiz Hernández IY, Noboa Rodríguez J, Bueno Fernandez LA, Rijo Florimon K. Early-Onset 15q11.2 Microdeletion Syndrome in a Six-Year-Old Child: A Case Report of Refractory Epilepsy, Autism, and Multisystem Manifestations. Cureus. 2025; 17(8): e90530.

The 15q11.2 microdeletion syndrome, also known as Burnside-Butler syndrome (BBS), is a rare genetic disorder involving a deletion in the breakpoint 1 to breakpoint 2 (BP1-BP2) on the long arm of chromosome 15, often associated with growth retardation and delayed speech development. In contrast, rare manifestations consist of dysmorphic traits, seizures, and neurodevelopmental or psychiatric conditions such as epilepsy, autism spectrum disorder (ASD), and schizophrenia. The BP1-BP2 region contains genes critical for brain development and function, including non-imprinted in Prader-Willi/Angelman syndrome 1 (NIPA1), non-imprinted in Prader-Willi/Angelman syndrome 2 (NIPA2), cytoplasmic FMR1 interacting protein 1 (CYFIP1), and tubulin gamma complex associated protein 5 (TUBGCP5), which have been linked to conditions such as attention-deficit/hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), and epilepsy. Prenatal tests and karyotype lead to unclear results, but the current chromosomal microarray analysis (CMA) provides an accurate diagnosis of BBS. Treatment for these individuals is personalized and typically involves a multidisciplinary approach. We present the case of a six-year-old male patient with 15q11.2 microdeletion syndrome and a complex neurological and developmental profile, including developmental delay and ASD. We highlight the rare combination of early-onset refractory epilepsy, schizencephaly, and cystic fibrosis transmembrane conductance regulator (CFTR) variant carrier status, which adds to the uniqueness of the case. This article contributes to expanding the clinical spectrum of 15q11.2 microdeletion syndrome. It underscores the importance of genetic testing in children with complex neurodevelopmental symptoms, as the clinical presentation of this syndrome is often subtle or nonspecific, making early diagnosis and genetic counseling challenging but essential for guiding appropriate interventions.

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12. Roberts CT, Kadar Shahib A, Arezoumand KS, Akhtar GB, Nejati-Koshki K, Jarmasz JS, Ziaee SM, Buist M, Raabe N, Rezaeian Mehrabadi A, Olson CO, Rastegar M. Mutation of MeCP2 at T158M Leads to Distinct Molecular and Phenotypic Abnormalities in Male and Female Mice. Cells. 2025; 14(16).

Methyl CpG-binding protein 2 (MeCP2) is an epigenetic reader of DNA methylation with high abundance in the brain. While genetic mutations occur across different protein domains of MeCP2, the T158M mutation is amongst the most frequent MeCP2 mutations. MeCP2 is encoded by the MECP2/Mecp2 gene located on the X chromosome. In humans, MECP2 mutations cause Rett Syndrome, a debilitating neurodevelopmental disorder in females, with very rare cases presenting in males. Despite the generation of different transgenic mouse lines with MeCP2 mutations, the sex-dependent phenotypic and molecular impact of common MeCP2 mutations in mouse models of disease remains largely unexplored. Here, we focus on the MeCP2 T158M mutation using Mecp2(tm4.1Bird/)J transgenic mice (referred to as Mecp2(T158M)), and report that Mecp2(T158M) mutant mice display sex-specific molecular, behavioural, and phenotypic characteristics when compared to wild-type controls. Our data indicates sex- and brain-region-dependent impacts on the expression of MeCP2, synaptic proteins, cytoskeletal markers, and autophagy factors. Our findings demonstrate that the phenotypic and molecular characteristics of this mouse model may relate to the clinical manifestation in human patients with Rett Syndrome.

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13. Zaks N, Kodesh A, Zatorski N, Wang Y, Levine SZ, Sandin S, Reichenberg A, Schlessinger A, Janecka M. Maternal medication use in pregnancy and offspring ASD risk: a prescription-wide, target-informed study. Eur Psychiatry. 2025: 1-21.

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