1. Novel Genetic Variants Linked to Autism Identified in Diverse Populations. Am J Med Genet A;2025 (Apr);197(4):e63262.

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2. Correction to ‘Investigation of Neuronal-Astroglial Injury Proteins and MMP-9 Serum Levels in Autism Spectrum Disorder and Their Relationship With Autistic Regression. Int J Dev Neurosci;2025 (Apr);85(2):e70011.

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3. Abdel Ghafar MA, Abdelraouf OR, Harraz EM, Seyam MK, Morsy WE, Amin WM, Abd-Elfattah HM. Virtual Reality Rehabilitation Helps to Improve Postural Balance in Children with Autism Spectrum Disorder: A Randomized Control Trial. Phys Occup Ther Pediatr;2025 (Mar 6):1-14.

BACKGROUND: Children with autism spectrum disorders (ASD) can have difficulty adapting to environmental changes and motor-tasks demands. OBJECTIVE: to investigate the effectiveness of non-immersive virtual reality (VR) combined with traditional physiotherapy versus traditional physiotherapy alone on static and functional balance in children with ASD, aged from 7 to 12 years. METHODS: Fifty-three children with ASD were randomly assigned to either the VR group, received virtual reality training combined with traditional physical therapy, or the control group, received traditional physical therapy alone. The Biodex balance system and the pediatric balance scale were used to evaluate the balance control before and after the 12-week treatment program. RESULTS: MANOVA results showed significant improvements in the pediatric balance scale scores for both the VR and control groups compared to the pre-intervention, and that the post-intervention results were significantly lower than the pre-intervention in terms of the overall sway index and all Biodex tested conditions (p < 0.05). However, post-intervention between-group comparisons showed that these significant improvements in all outcome measures were in the favor of the VR group (p < 0.05). CONCLUSION: This study suggests that virtual reality training could be an effective adjunct to traditional physical therapy for improving postural control in children with ASD.

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4. Cai Z, Che C, Li D, Li X, Yu X, Yu L, Sun Q, Niu Y, Cao A. Common Gut Microbial Signatures in Autism Spectrum Disorder and Attention Deficit Hyperactivity Disorder. Autism Res;2025 (Mar 6)

The potential etiological and diagnostic values of the gut microbiota in children with neurodevelopmental disorders are encouraging but controversial. In particular, the composition and characteristics of the gut microbiota in autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) remain largely unidentified. Herein, we analyzed stool samples from 113 participants with a clinical diagnosis of ASD, 43 with ADHD, 8 with both ASD and ADHD, and 120 healthy controls between 2 and 11 years of age using 16S rRNA sequencing. We observed that clinical diagnosis, age, comorbidities, food sensitivities, and antibiotic use significantly affected the gut microbiota. The enriched genera in the control group were relatively common and dominant human gut bacteria, such as Bacteroides, Faecalibacterium, and Roseburia. The genera present in children with neurodevelopmental disorders showed greater heterogeneity, and the abundance of Bifidobacterium was consistently increased. We found 4899 deregulated microbial metabolic functions and revealed the formation of a divergent genus-level network in patients. This analysis demonstrated that the gut microbial signatures efficiently discriminated patients from healthy participants in both the discovery (area under the curve [AUC]: 0.95-0.98) and validation (AUC: 0.69-0.74) sets. Importantly, although ASD and ADHD share several gut microbial characteristics, specific bacteria that contribute to the disease pathogenesis may have different metabolic functions.

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5. Choi H, Seomun G. Adaptation and validation of the Korean version of the parental perception of uncertainty scale (K-PPUS) in parents of children with developmental disabilities. J Pediatr Nurs;2025 (Mar 4);82:47-56.

BACKGROUND: Parents of children with developmental disabilities face mental health challenges due to ongoing uncertainty, which affects parenting and family functioning. Reliable and valid scales are essential to assess this uncertainty effectively. AIM: This study translated and culturally adapted the Parental Perception of Uncertainty Scale (PPUS) into Korean for use with parents of children with developmental disabilities and evaluated its psychometric properties. METHODS: The translation followed a rigorous process, including forward and backward translation, expert panel reviews, and pilot testing. Exploratory factor analysis and confirmatory factor analysis were conducted with 314 and 298 participants, respectively, using a cross-sectional design. Internal consistency reliability was assessed using Cronbach’s alpha and McDonald’s omega. RESULTS: The final Korean version of the PPUS (K-PPUS) comprises 14 items across three factors: ambiguity, unpredictability, and lack of information. The scale demonstrated satisfactory content, construct, convergent, discriminant validity, and internal consistency (Cronbach’s alpha = 0.88, McDonald’s ω = 0.89). CONCLUSIONS: The K-PPUS was found to be a reliable and valid tool for assessing the uncertainty experienced by parents of children with developmental disabilities, providing a foundation for future intervention research to improve these families’ quality of life.

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6. Costa CIS, Madanelo L, Wang JYT, da Silva Campos G, De Sanctis Girardi AC, Scliar M, Monfardini F, de Cássia Mingroni Pavanello R, Cória VR, Vibranovski MD, Krepischi AC, Lourenço NCV, Zatz M, Yamamoto GL, Zachi EC, Passos-Bueno MR. Understanding rare variant contributions to autism: lessons from dystrophin-deficient model. NPJ Genom Med;2025 (Mar 6);10(1):18.

Duchenne and Becker Muscular Dystrophy are dystrophinopathies with a prevalence of 1:5000-6000 males, caused by pathogenic variants in DMD. These conditions are often accompanied by neurodevelopmental disorders (NDDs) like autism (ASD; ~20%) and intellectual disability (ID; ~30%). However, their low penetrance in dystrophinopathies suggests additional contributing factors. In our study, 83 individuals with dystrophinopathies were clinically evaluated and categorized based on ASD (36 individuals), ID risk (12 individuals), or controls (35 individuals). Exome sequencing analysis revealed an enrichment of risk de novo variants (DNVs) in ASD-DMD individuals (adjusted p value = 0.0356), with the number of DNVs correlating with paternal age (p value = 0.0133). Additionally, DMD-ASD individuals showed a higher average of rare risk variants (RRVs) compared to DMD-Controls (adjusted p value = 0.0285). Gene ontology analysis revealed an enrichment of extracellular matrix-related genes, especially collagens, and Ehlers-Danlos syndrome genes in ASD-DMD and DMD-ID groups. These findings support an oligogenic model for ASD in dystrophinopathies, highlighting the importance of investigating homogenized samples to elucidate ASD’s genetic architecture.

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7. Dhindsa RS, Weido BA, Dhindsa JS, Shetty AJ, Sands CF, Petrovski S, Vitsios D, Zoghbi AW. Genome-wide prediction of dominant and recessive neurodevelopmental disorder-associated genes. Am J Hum Genet;2025 (Mar 6);112(3):693-708.

Despite great progress, thousands of neurodevelopmental disorder (NDD) risk genes remain to be discovered. We present a computational approach that accelerates NDD risk gene identification using machine learning. First, we demonstrate that models trained solely on single-cell RNA sequencing data can robustly predict genes implicated in autism spectrum disorder (ASD), developmental and epileptic encephalopathy (DEE), and developmental delay (DD). Notably, we find differences in gene expression patterns of genes with monoallelic and bi-allelic inheritance patterns in the developing human cortex. We then integrate expression data with 300 orthogonal features, including intolerance metrics, protein-protein interaction data, and others, in a semi-supervised machine learning framework (mantis-ml) to train inheritance-specific models for these disorders. The models have high predictive power (area under the receiver operator curves [AUCs]: 0.84-0.95), and the top-ranked genes were up to 2-fold (monoallelic models) and 6-fold (bi-allelic models) more enriched for high-confidence NDD risk genes compared to genic intolerance metrics alone. Additionally, genes ranking in the top decile were 45 to 180 times more likely to have literature support than those in the bottom decile. Collectively, this work provides robust NDD risk gene predictions that can complement large-scale gene discovery efforts and underscores the importance of considering inheritance in gene risk prediction.

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8. Dijkstra-de Neijs L, Swaab H, van Berckelaer-Onnes IA, Ester WA. Resilience Within Families of Young Children with ASD. J Autism Dev Disord;2025 (Mar 6)

Resilience within families may temper the risk of high parenting stress faced by parents of young children with ASD. Within families, individual differences between parents may contribute differently to resilience. There is a lack in knowledge regarding the contribution of intrapersonal and contextual factors associated with resilience in parents of young children with ASD within the same family. In this cross-sectional study (n=249 individuals), resilience within families is addressed by investigating (1) family parenting stress, (2) associated factors contributing to maternal (n=87) and paternal (n=74) resilience, and (3) relating to resilience within families (n=74) of 3-to-6-year-old children with ASD (n=88). (1) The percentage of families with regular parenting stress in both parents (33%) is almost equal to the proportion of families with (sub)clinical parenting stress in both parents (36%), families with mothers experiencing (sub)clinical and fathers experience regular parenting stress are twice as common (22%) than the other way around (9%). Contributors to (2) mothers’ resilience to parenting stress are good planning/organizing skills and satisfactory social relations. Contributors to fathers’ resilience are low levels of ‘worrying’ and good social relations. The shared contributing factor to resilience within families (3) is the satisfaction of both parents with their social relations. Most of the parents of the same young child with ASD experience a comparable degree of parental stress, with different dynamics in individual parents contributing to resilience within families. This suggests the need for a personalized parental approach in families with young children with ASD.

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9. Dopp RR, Tengelitsch E, Patel P, Marcus SM, Quigley J. Mental Health Access for Young Children: Findings from MC3, a Statewide Consultation Program for Primary Care. Child Adolesc Psychiatr Clin N Am;2025 (Apr);34(2):351-361.

Behavioral health conditions in young children are under-recognized and undertreated. The lack of child psychiatrists makes consultation with primary care providers (PCPs) a critical part of their health care. Of the 973 consultations to the Michigan Clinical Consultation & Care program for children 6 years and below, over half were already on at least 1 medication, and just under half were not engaged in psychotherapy. Attention deficit hyperactivity disorder, anxiety, and autism spectrum disorders were common consultation questions. Among children identified by the psychiatrist as having a trauma and stressor-related disorder, PCPs were less likely to make this diagnosis.

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10. Fekih-Romdhane F, Sarra Chaibi L, Alhuwailah A, Sakr F, Helmy M, Ahmed H, Shuwiekh M, Boudouda NE, Zarrouq B, Naser AY, Jebreen K, Roubi ML, Hassan ARB, Merdad N, Amin R, Nawajah I, Mohammed AH, Farhan SS, AlAni OA, Dabbous M, Malaeb D, Obeid S, Loch AA, Cheour M, Hallit S. Loneliness and susceptibility to social pain mediate the association between autistic traits and psychotic experiences in young non-clinical adults. Sci Rep;2025 (Mar 6);15(1):7836.

Understanding of the mechanisms involved in the occurrence of psychotic experiences (PEs) in highly autistic individuals is crucial for identifying appropriate prevention and intervention strategies. This study aimed to investigate the mediating role of susceptibility to social pain and loneliness in the relationship between autistic traits (ATs) and PEs in adults from the general population of 12 Arab countries. This cross-sectional study is part of a large-scale multi-country research project. A total of 7646 young adults (age range 18-35 years, mean age of 22.55 ± 4.00 years and 75.5% females) from twelve Arab countries (i.e., Algeria, Bahrain, Egypt, Iraq, Jordan, Kingdom of Saudi Arabia, Kuwait, Lebanon, Morocco, Oman, Palestine, and Tunisia) were included. Mediation analyses showed that, after adjusting over confounding variables, both loneliness (indirect effect: Beta = 0.18; Boot SE = 0.02; Boot CI 0.14; 0.21) and social pain (indirect effect: Beta = 0.03; Boot SE = 0.01; Boot CI 0.001; 0.05) partially mediated the association between ATs and PEs. Higher ATs were significantly associated with more loneliness and susceptibility to social pain, and directly associated with more severe PEs. Finally, higher loneliness and susceptibility to social pain were significantly associated with greater PEs scores. Findings indicated that individuals with higher ATs tend to experience greater loneliness and feel more pain from rejection, which can in turn be associated with higher levels of PEs. Interventions targeting susceptibility to social pain and loneliness as a means of mitigating PEs among highly autistic adults should be considered.

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11. Hong JS, Goodwin R, Fagan A. Assessment of Autism in Young Children. Child Adolesc Psychiatr Clin N Am;2025 (Apr);34(2):235-255.

We will review typical social development in early childhood, the basics of the Autism Diagnostic Observation Schedule-2 (ADOS-2), and the multidisciplinary team model of Autism Spectrum Disorder (ASD) assessment. To diagnose or rule out ASD for toddlers and preschoolers, clinicians should be familiar with typical developmental milestones, particularly social development. Understanding typical social development is very important in discerning atypical, delayed, or absent social behaviors. The ADOS-2 is often regarded as a reference standard in the ASD field. Basic knowledge of the ADOS-2 will guide clinicians in interpreting its findings. Early childhood development is a dynamic process involving multiple domains of cognition, language, motor, play, and social. To assess ASD concerns, clinicians should be able to assess each developmental domain and integrate all developmental information. The ideal is a multidisciplinary team, as will be described below. In the absence of a multidisciplinary team, or a clinician trained in the ADOS-2, a pediatrician or child psychiatrist can be armed with screening tools, and an understanding of development and ASD to make a diagnosis early, and assist in access to early intervention.

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12. Kardaş B, Topçu B, Şahin AB, Şişmanlar Ş G. The Process of Diagnosing Xia Gibbs Syndrome in A Male Child with Autism Spectrum Disorder and AHDC1 Gene Mutation: Case Report. Noro Psikiyatr Ars;2025;62(1):84-86.

Xia Gibbs Syndrome (XGS) is a rare disorder with different phenotypic and behavioral manifestations and clinical reflections known to develop as a result of de novo mutations in the AT-Hook DNA binding motif (AHDC1). Our patient was first evaluated in the pediatric psychiatry clinic at the age of 2 because of speech delay. The patient was followed up with a diagnosis of cognitive retardation and joint hypermobility was found as a result of pediatric neurology consultation due to his dysmorphic appearance. No pathology was found in detailed blood tests and imaging studies. During the follow-up period, it was determined that the cognitive skills gained between the ages of 4-4.5 started to regress, there was no joint attention, but there was stereotypic movements and limitation in eye contact. In the detailed genetic evaluation performed due to the deterioration in the clinical course and the addition of the diagnosis of Autism Spectrum Disorder, a mutation compatible with Xia Gibbs Syndrome was found in the whole exon sequencing test. Repeated psychiatric and medical evaluation as part of a multidisciplinary approach in rare genetic diseases such as Xia Gibbs Syndrome is important for educational planning and treatment of comorbidities. With this case, we wanted to emphasize the importance of psychiatric follow-up and further investigations especially in cases with loss of acquired skills after diagnosis.

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13. Kim MA, Yi J, Hwang S, Sung J, Lee SY, Kim H. Narratives From Female Siblings of Adults With Intellectual and Developmental Disabilities: A Photovoice Study on Identity and Growth Experiences in South Korea. J Appl Res Intellect Disabil;2025 (Mar);38(2):e70029.

BACKGROUND: This study sought a holistic understanding of lived experiences of individuals with a sibling who has intellectual and developmental disabilities using photovoice. METHODS: Seven adult female siblings of individuals with intellectual and developmental disabilities in South Korea engaged in six weekly photovoice sessions, including an orientation session, phototaking on participant-driven themes, and four group discussion sessions in which they shared their photos. RESULTS: Thirteen subthemes related to four primary themes highlighted their experiences. Although these siblings faced pressure from the responsibilities of caregiving, they described growth and reflection on their identities, subsequent shifts in perspectives, and finding a balance between self-care and fulfilling responsibilities to maintain their love for their sibling. CONCLUSIONS: Social work professionals should acknowledge their challenges and growth and help them find balance in their life and caregiving role. It is also important to address their unique needs by considering the intersection of gender, culture, and disability.

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14. Koko M, Satterstrom FK, Warrier V, Martin H. Contribution of autosomal rare and de novo variants to sex differences in autism. Am J Hum Genet;2025 (Mar 6);112(3):599-614.

Autism is four times more prevalent in males than females. To study whether this reflects a difference in genetic predisposition attributed to autosomal rare variants, we evaluated sex differences in effect size of damaging protein-truncating and missense variants on autism predisposition in 47,061 autistic individuals using a liability model with differing thresholds. Given the sex differences in the rates of cognitive impairment among autistic individuals, we also compared effect sizes of rare variants between individuals with and without cognitive impairment or motor delay. Although these variants mediated different likelihoods of autism with versus without cognitive or motor difficulties, their effect sizes on the liability scale did not differ significantly by sex exome wide or in genes sex-differentially expressed in the cortex. De novo mutations were enriched in genes with male-biased expression in the adult cortex, but these genes did not show a significant sex difference on the liability scale, nor did the liability conferred by these genes differ significantly from other genes with similar loss-of-function intolerance and sex-averaged cortical expression. Exome-wide female bias in de novo protein-truncating mutation rates on the observed scale was driven by high-confidence and syndromic autism-predisposition genes. In summary, autosomal rare and damaging coding variants confer similar liability for autism in females and males.

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15. Lenker KP, Felix LL, Cichy S, Lehman E, Logan JM, Murray M, Kraschnewski JL. Using the Community Resilience Model and Project ECHO to Build Resiliency in Direct Support Professionals: Protocol for a Longitudinal Survey. JMIR Res Protoc;2025 (Mar 6);14:e59913.

BACKGROUND: Individuals with intellectual disabilities or autism spectrum disorder (ID/A) sometimes require supportive services from direct support professionals (DSPs). The supportive care provided to individuals with ID/A by DSPs can vary from assistance with daily living activities to navigating society. The COVID-19 pandemic not only exacerbated poor outcomes for individuals with ID/A but also for DSPs, who report experiencing burnout in the aftermath of the pandemic. DSPs are critical to providing much-needed support to individuals with ID/A. OBJECTIVE: The goal of this study is to evaluate the impact of the community resilience model on DSP burnout and neurodivergent client outcomes using the Project ECHO (Extension for Community Healthcare Outcomes) telementoring platform as a dissemination tool. METHODS: This protocol leverages community resilience theory and telementoring through the Project ECHO model to foster resilience in DSPs and their neurodiverse client population. ECHO participants’ resilience behaviors will be evaluated via surveys including the Connor Davison Resilience Scale and the WHO-5 Well-Being Index. These surveys will be administered preprogram, at the end of the 8-week ECHO program, and 90 days after the ECHO program’s completion. Pre-post relationships will be assessed using generalized estimating equations. The main outcomes will be self-reported changes in knowledge, self-efficacy, and resilience. RESULTS: All ECHO program cohorts and follow-up data collection have concluded, with 131 survey participants. The project team is currently analyzing and interpreting the data. We anticipate having all data analyzed and interpreted by February 2025. CONCLUSIONS: DSPs provide critical services to individuals with ID/A. By providing skills in resiliency via the ECHO model, participants will be able to apply resiliency to their own professional lives while fostering resilience within their neurodiverse client base, leading to increased positive outcomes for both groups. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/59913.

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16. Li F, Li Q, Shen Q, Zhang X, Leng H, Liu Y, Zheng X. Family Navigation Programs for Children With Autism Spectrum Disorder: A Scoping Review. Pediatrics;2025 (Mar 6)

OBJECTIVES: Family navigation (FN) programs are an integrated care delivery model for children with chronic conditions. However, there is a lack of synthesized evidence of FN programs for children with autism spectrum disorder (ASD). This scoping review aimed to map the current evidence to describe the characteristics and synthesize the effectiveness of FN programs for children with ASD. METHODS: We searched the PubMed, Web of Science, Embase, CINAHL, PsycINFO, and ProQuest databases for studies published between 2011 and 2023. After duplicate records were removed, 2 researchers read the titles and abstracts and screened the full texts. Disagreements were resolved by a third researcher. Two researchers independently extracted the data and performed data synthesis in both tabular and narrative formats. RESULTS: Twenty-seven studies were included. The navigation activities included family assessment, service coordination, psychosocial support, health education, service advocacy, and logistic assistance. Navigators could be professionals or nonprofessionals with bilingual and bicultural backgrounds. FN programs accelerated service access from positive screening to definite diagnosis and to intervention initiation for children with ASD. Positive effects were also detected for the health outcomes of caregivers. CONCLUSIONS: The results were narratively synthesized because of the heterogeneity of the included studies. This study provides guidance for the development and implementation of future FN programs. The findings indicate that the inclusion of solid theoretical frameworks, consistent reporting of intervention components, and conduction of effectiveness-implementation mixed studies may facilitate the generalizability of FN programs in wider contexts.

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17. Long D, Yang T, Chen J, Zhang J, Dai Y, Chen L, Jia F, Wu L, Hao Y, Li L, Ke X, Yi M, Hong Q, Chen J, Fang S, Wang Y, Wang Q, Jin C, Li T. Motor developmental delay in preschoolers with autism spectrum disorders in China and its association with core symptoms and maternal risk factors: a multi-center survey. Child Adolesc Psychiatry Ment Health;2025 (Mar 5);19(1):18.

BACKGROUND: Motor disturbance, as a related symptom of autism spectrum disorders (ASD), has not received the attention it deserves. We aimed to investigate the different degrees of motor developmental delay and influencing factors in Chinese preschool children with ASD, in order to enhance people’s awareness of motor developmental delay in ASD children. METHODS: We recruited 1,256 ASD children aged 2-6 years from the China Multi-Center Preschool Autism Project (CMPAP). We investigated the overall status of neurodevelopment in preschool children with ASD through the Revised Children Neuropsychological and Behavior Scale (CNBS-R2016) and the Gesell Developmental Scale (GDS). The multivariate ordered logistic regression model was used to analyze the relationship between different degrees of motor developmental delay and demographic, core symptoms of ASD, and maternal risk factors, which were evaluated using the questionnaires, the Childhood Autism Rating Scale (CARS) and the Social Responsiveness Scale-Second Edition (SRS-2). RESULTS: The proportions of delayed development in various neurodevelopmental domains was significantly imbalanced in preschool children with ASD. The proportions of gross and fine motor developmental delay were as high as 39.6% and 68.4% respectively. ASD children in different age subgroups all exhibited gross and fine motor developmental delay. The CARS and SRS-2 total scores of ASD children with mild, moderate-severe gross or fine motor developmental delay were significantly higher than those with normal motor skills development (P < 0.05). ASD children aged ≥ 5 years, or higher CARS and SRS-2 total scores, or gestational age in the 28-36(+ 6) weeks were more likely to suffer from gross motor developmental delay (OR values were 5.504, 1.083, 1.846 respectively) and fine motor developmental delay (OR values were 2.216, 1.074, 1.011, 1.661 respectively). CONCLUSION: Gross and fine motor developmental delay were difficulties that most preschool children with ASD may face, and ASD children with motor developmental delay had greater deficits in social skills. Therefore, it is necessary to continuously monitor the gross and fine motor development progress of children with ASD for facilitating early identification and individualized intervention.

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18. Lyu W, Li Y, Yao A, Tan QQ, Zhang R, Zhao JP, Guo K, Jiang YH, Tian R, Zhang YQ. Oxytocin improves maternal licking behavior deficits in autism-associated Shank3 mutant dogs. Transl Psychiatry;2025 (Mar 6);15(1):76.

Impaired social interaction and repetitive behavior are key features observed in individuals with autism spectrum disorder (ASD). SHANK3 is a high-confidence ASD risk gene that encodes an abundant scaffolding protein in the postsynaptic density. In wild-type (WT) domestic dogs, maternal behaviors such as licking and nursing (largely milk feeding) of puppies are most commonly observed. To address whether SHANK3 plays a role in social behaviors especially maternal behaviors, we analyzed Shank3 mutant dogs generated by CRISPR/Cas9 methodology. We found that Shank3 mutant dams exhibited a fewer and shorter licking behavior, as well as reduced nursing frequency when compared with WT dams. Additionally, a significant decrease in blood oxytocin (OXT) concentration was detected in Shank3 mutant dams. We thus conducted a vehicle-controlled experiment to examine whether a two-week intranasal OXT treatment, initiated on the 8(th) postpartum day, could rescue the maternal licking deficits in Shank3 mutant dams. We found that the decreased licking behavior in Shank3 mutant dams was significantly attenuated both acutely and chronically by OXT treatment. The rescue effect of OXT implicates an oxytocinergic contribution to the maternal defects in Shank3 mutant dams, suggesting a potential therapeutic strategy for SHANK3-associated ASD.

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19. McCluskey KE, Stovell KM, Law K, Kostyanovskaya E, Schmidt JD, Exner CRT, Dea J, Brimble E, State MW, Willsey AJ, Willsey HR. Autism gene variants disrupt enteric neuron migration and cause gastrointestinal dysmotility. Nat Commun;2025 (Mar 6);16(1):2238.

The co-occurrence of autism and gastrointestinal distress is well-established, yet the molecular underpinnings remain unknown. The identification of high-confidence, large-effect autism genes offers the opportunity to identify convergent, underlying biology by studying these genes in the context of the gastrointestinal system. Here we show that the expression of these genes is enriched in human prenatal gut neurons and their migratory progenitors, suggesting that the development and/or function of these neurons may be disrupted by autism-associated genetic variants, leading to gastrointestinal dysfunction. Here we document the prevalence of gastrointestinal issues in patients with large-effect variants in sixteen autism genes, highlighting dysmotility, consistent with potential enteric neuron dysfunction. Using Xenopus tropicalis, we individually target five of these genes (SYNGAP1, CHD8, SCN2A, CHD2, and DYRK1A) and observe disrupted enteric neuronal progenitor migration for each. Further analysis of DYRK1A reveals that perturbation causes gut dysmotility in vivo, which can be ameliorated by treatment with either of two serotonin signaling modulators, identified by in vivo drug screening. This work suggests that atypical development of enteric neurons contributes to the gastrointestinal distress commonly seen in individuals with autism and that serotonin signaling may be a productive therapeutic pathway.

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20. Nelson B, Emmelin M, Agardh A, Löfgren L, Stafström M. Shifting participatory approach when ideology meets reality: a grounded theory study based on project leaders’ experiences with peer-led sex education programs for and by persons with intellectual disabilities and/or autism. Reprod Health;2025 (Mar 6);22(1):34.

BACKGROUND: This study explored peer-led sex education for individuals with intellectual disabilities and/or autism (ID/ASD) from the perspective of project leaders within Swedish non-governmental organizations (NGOs). The purpose of this Grounded Theory study was to develop a conceptual model that characterizes the ways in which peer-led sex education is implemented by Swedish NGOs. This was done by exploring what the concept of peer-led sex education means to NGO project leaders, and how they experience, explain and reason about the application of peer education in their daily operations. METHODS: This study conducted 12 qualitative in-depth interviews with project leaders working with peer-led sex education initiatives. Grounded Theory enabled the construction of a conceptual model. RESULTS: The study identified the core category, « Shifting participatory approach when ideology meets reality, » encapsulating project leaders’ experiences in managing peer-led sex education programs. Three distinct approaches were discerned: (1) The Radical approach, where project leaders prioritize empowerment and norm criticism, striving to create an inclusive and equitable environment for individuals with ID/ASD. This approach resonates with Paulo Freire’s pedagogy of the oppressed, emphasizing liberation through education. (2) The Pragmatic approach, which navigates the tension between ideology and pragmatism, recognizing the co-dependency between project leaders and persons with ID/ASD. External pressures from funders and the requirements to achieve tangible project outcomes inform this approach. (3) The Skeptical approach, which exhibits caution, doubting the capabilities and willingness of individuals with ID/ASD to challenge societal norms and work equally with people without ID/ASD. CONCLUSIONS: The findings underscore the complexity of peer-led sex education programs and highlight the need for a balanced approach that addresses both ideological aspirations and practical constraints. Empowerment and norm criticism are central to fostering agency and challenging oppressive systems. However, the pragmatic realities of project management and external pressures necessitate a delicate balance. Understanding these diverse approaches can inform the design of more effective initiatives, ultimately contributing to sexual and reproductive health and rights of individuals with ID/ASD. This study is about sex education for and by people with intellectual disabilities and/or autism (ID/ASD). This research focuses on peer education programs managed by Swedish non-governmental organizations (NGOs). Through interviews with the program project leaders we discovered that they use three main approaches (1) A Radical Approach that emphasizes empowering peer educators with disabilities as well as challenging societal norms. The aim is to create an inclusive environment where everyone’s voice is heard. Here inspiration is drawn from Paulo Freire’s idea of using education to liberate and empower marginalized groups. (2) A Pragmatic Approach which tries to find a balance between ideals and the practical demands of running a program and where the need to meet specific goals and fulfill the requirements of funders is recognized. (3) Finally, a Skeptical Approach which is marked by caution and skepticism. In this approach there is uncertainty about whether participants with ID/ASD can challenge societal norms effectively. Awareness of the limitations when running projects with people with intellectual disability may lead to prioritizing stability over empowerment. In conclusion, running peer-led sex education programs for people with ID/ASD is not straightforward. Balancing empowerment and practicality is challenging. Understanding these different approaches can create more effective programs that empower individuals while addressing real-world constraints. Future research should involve the perspectives of peer educators and program participants for a comprehensive view of these programs’ impact and challenges. eng

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21. Parra-Díaz P, Monteil A, Calame D, Hadouiri N, Soliani L, Spinelli E, Caron EJ, Dieterich K, Kritzer A, Riley K, Serratosa Fernández JM, Tanner JA, Tevissen H, Thauvin C, Vera-Medialdea R, Waltz SM, Beltrán-Corbellini Á, García Morales I, Sánchez-Miranda Román I, Toledano R, Valls-Carbó A, Gil-Nagel A. Genotype-Phenotype Landscape of NALCN and UNC80-Related Disorders. Neurology;2025 (Apr 8);104(7):e213429.

BACKGROUND AND OBJECTIVES: The NALCN channelosome regulates the resting membrane potential through sodium leak currents, influencing cellular excitability. Genetic variants in NALCN and UNC80, a subunit of the NALCN channelosome, cause ultra-rare and severe neurodevelopmental disorders. Autosomal dominant congenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD) syndrome is associated with gain-of-function (GOF) variants in NALCN. Infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) 1 syndrome is associated with biallelic variants in NALCN and IHPRF 2 syndrome with biallelic variants in UNC80, both resulting in a loss-of-function (LOF). This study aims to expand the phenotypes associated with these syndromes, exploring potential genotype-phenotype associations. METHODS: This is a cross-sectional study including patients with pathogenic or likely pathogenic variants in NALCN and UNC80. Phenotypes were evaluated through a structured interview, questionnaires, and review of medical records. Associations between variants, clinical features, and syndromes were analyzed. RESULTS: Fifty-one patients were included (34 with CLIFAHDD, 9 with IHPRF 1, 8 with IHPRF 2; 3 months-27 years; 37.3% female). All exhibited neurodevelopmental delay, more severe in patients with LOF variants (p = 0.019). Neurodevelopmental regression was observed in 29.4% of patients with CLIFAHDD syndrome, associated with the onset of ataxia (70%). Patients with CLIFAHDD had more severe respiratory symptoms at birth (11.7% orotracheal intubation). Distal arthrogryposis (76.5%), episodic ataxia (41.2% of ambulatory patients), and paroxysmal dystonia (11.7%) were exclusively diagnosed in patients with CLIFAHDD. Patients with LOF variants presented more frequently with failure to thrive (88.2%, p = 0.001), central sleep apnea (CSA, 64.7%, p < 0.001), and epilepsy (70.6%, p < 0.001). Epilepsy was associated with more severe cognitive delays (p = 0.016) and was refractory in 58.8% of patients. Earlier seizure onset was associated with refractory epilepsy (p = 0.014). Patients with CLIFAHDD and premature death, epilepsy, or paroxysmal dystonia carried variants within NALCN pore domains. DISCUSSION: This study provides an in-depth clinical characterization of NALCN-related and UNC80-related disorders. Distal arthrogryposis, episodic ataxia, and paroxysmal dystonia were diagnosed in patients with CLIFAHDD while failure to thrive, CSA, and epilepsy were associated with LOF variants. We suggest potential genotype-phenotype associations, formulating hypotheses for validation in future studies with larger cohorts.

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22. Pelizza L, Federico A, Leuci E, Quattrone E, Palmisano D, Pupo S, Paulillo G, Pellegrini C, Pellegrini P, Menchetti M. What autism features in first episode psychosis? Results from a 2-year follow-up study. Eur Arch Psychiatry Clin Neurosci;2025 (Mar 5)

The PANSS Autism Severity Score (PAUSS) is a popular measure of autistic features in First Episode Psychosis (FEP) samples. However, evidence on its longitudinal stability, course and treatment response is poor. Therefore, the main aim of this research was to compare clinical outcomes between FEP individuals with or without « autistic features » enrolled within an « Early Intervention in Psychosis » (EIP) service across 2 years of follow-up, as well as any significant association with EIP treatment components. FEP subjects completed the Positive And Negative Syndrome Scale (PANSS), the Global Assessment of Functioning (GAF), and the Health of the Nation Outcome Scale (HoNOS) at entry and across the follow-up. Statistical tests included Kaplan-Meyer survival analysis, mixed-design ANOVA, and multiple linear logistic regression analysis. 301 FEP subjects were enrolled (85 [28.0%] scored above the PAUSS cut-off score). Across the follow-up, the PAUSS + subgroup showed lower incidence rates of both symptomatic and functional remission. No PAUSS long-term stability was observed, but a statistically significant reduction in its values. This longitudinal change was mainly predicted by the total number of case management sessions offered within the EIP program. Our results suggest that the PAUSS could not represent a valid instrument to assess « trait-like » autistic features in FEP subjects. On contrary, it seems to capture a FEP subgroup characterized by higher severity levels in psychopathology and poorer outcomes and prognosis.

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23. Pellicano E, Heyworth M. Weak ties and the value of social connections for autistic people as revealed during the COVID-19 pandemic. Commun Psychol;2025 (Mar 6);3(1):36.

A diverse portfolio of social relationships matters for people’s wellbeing, including both strong, secure relationships with others (‘close ties’) and casual interactions with acquaintances and strangers (‘weak ties’). Almost all of autism research has focused on Autistic people’s close ties with friends, family and intimate partners, resulting in a radically constrained understanding of Autistic sociality. Here, we sought to understand the potential power of weak-tie interactions by drawing on 95 semi-structured interviews with Autistic young people and adults conducted during the COVID-19 pandemic. We analysed the qualitative data using reflexive thematic analysis within an essentialist framework. During the COVID-19 lockdowns, Autistic people deeply missed not only their close personal relationships but also their « incidental social contact » with acquaintances and strangers. These weak-tie interactions appear to serve similar functions for Autistic people as they do for non-autistic people, including promoting wellbeing. These findings have important implications both for future research into Autistic sociality and for the design of practical services and supports to enhance Autistic people’s opportunities to flourish.

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24. Percy AK, Ryther R, Marsh ED, Neul JL, Benke TA, Berry-Kravis EM, Feyma T, Lieberman DN, Ananth AL, Fu C, Buhrfiend C, Barrett A, Doshi D, Darwish M, An D, Bishop KM, Youakim JM. Results from the phase 2/3 DAFFODIL study of trofinetide in girls aged 2-4 years with Rett syndrome. Med;2025 (Feb 28):100608.

BACKGROUND: Trofinetide is the first available treatment for Rett syndrome (RTT) and is approved in the United States in adults and pediatric patients aged ≥2 years. The DAFFODIL study was conducted in girls aged 2-4 years with RTT to examine the safety, tolerability, and efficacy of trofinetide and to validate that the recommended dosage, according to body weight, achieved target exposure. METHODS: DAFFODIL was a phase 2/3, open-label study of trofinetide consisting of two treatment periods (12 weeks [period A] and ∼21 months [period B]). Pharmacokinetic samples were collected at regular intervals during period A. Assessments included treatment-emergent adverse events (TEAEs) and exploratory efficacy (Clinical Global Impressions-Improvement [CGI-I], CGI-Severity, caregiver GI-I [CaGI-I], and overall quality of life rating of the Impact of Childhood Neurologic Disability Scale [ICND-QoL]). Optional caregiver exit interviews were also conducted. FINDINGS: Fifteen participants were enrolled. Overall, the most common TEAEs were diarrhea (80.0%) and vomiting (53.3%), which were mild or moderate in severity. Steady-state exposure at clinical doses fell within the target exposure range. RTT symptoms improved throughout the study as measured by the CGI-I, CaGI-I, and change from baseline in the ICND-QoL. In caregiver interviews (n = 7), all caregivers reported they were « very satisfied » or « satisfied » with trofinetide benefits. CONCLUSIONS: Trofinetide has acceptable tolerability in girls 2-4 years of age with RTT and provides long-term efficacy. Weight-based dosage achieves target exposure in younger children. FUNDING: The study was supported by Acadia Pharmaceuticals (San Diego, CA). This study was registered at ClinicalTrials.gov (NCT04988867).

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25. Pozzer D, Indrigo M, Breccia M, Florio E, Franchino CA, De Rocco G, Maltecca F, Fadda A, Rossato M, Aramini A, Allegretti M, Frasca A, De Filippis L, Landsberger N. Clinical-grade intranasal NGF fuels neurological and metabolic functions of Mecp2-deficient mice. Brain;2025 (Mar 6);148(3):845-860.

MECP2 deficiency causes a broad spectrum of neuropsychiatric disorders that can affect both genders. Rett syndrome is the most common and is characterized by an apparently normal growth period followed by a regression phase in which patients lose most of their previously acquired skills. After this dramatic period, various symptoms progressively appear, including severe intellectual disability, epilepsy, apraxia, breathing abnormalities and motor deterioration. MECP2 encodes for an epigenetic transcription factor that is particularly abundant in the brain; consequently, several transcriptional defects characterize the Rett syndrome brain. The well-known deficiency of several neurotrophins and growth factors, together with the positive effects exerted by trofinetide, a synthetic analogue of insulin-like growth factor 1, in Rett patients and in mouse models of Mecp2 deficiency, prompted us to investigate the therapeutic potential of nerve growth factor. Initial in vitro studies demonstrated a healing effect of recombinant human GMP-grade NGF (rhNGF) on neuronal maturation and activity in cultured Mecp2-null neurons. Subsequently, we designed in vivo studies with clear translational potential using intranasally administered rhNGF already used in the clinic. The efficacy of rhNGF in vivo in Mecp2-null hemizygous male mice and heterozygous female mice was assessed. General well-being was evaluated by a conventional phenotypic score and motor performance through the Pole and Beam Walking tests, while cognitive function and interaction with the environment were measured by the Novel Object Recognition test and the Marble Burying test, respectively. At the end of the treatment, mouse cortices were dissected and bulk RNA sequencing was performed to identify the molecular pathways involved in the protective effects of rhNGF. In both male and female mouse models of Rett syndrome, rhNGF exerted positive effects on cognitive and motor functions. In male hemizygous mice, which suffer from significantly more severe and rapidly advancing symptoms, the drug’s ability to slow the disease’s progression was more pronounced. The unbiased research for the molecular mechanisms triggering the observed benefits revealed a strong positive effect on gene sets related to oxidative phosphorylation, mitochondrial structure and function. These results were validated by demonstrating the drug’s ability to improve mitochondrial structure and respiration in Mecp2-null cerebral cortices. Furthermore, Gene Ontology analyses indicated that NGF exerted the expected improvement in neuronal maturation. We conclude that intranasal administration of rhNGF is a non-invasive and effective route of administration for the treatment of Rett syndrome and possibly for other neurometabolic disorders with overt mitochondrial dysfunction.

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26. Raj S, Jemi MT, Mammen P. Clinical practice guidelines for cognitive impairment in Autism spectrum disorder – Assessment and management. Indian J Psychiatry;2025 (Jan);67(1):117-127.

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27. Shin YS, Christensen D, Wang J, Shirley DJ, Orlando AM, Romero RA, Vaillancourt DE, Wilkes BJ, Coombes SA, Wang Z. Transcallosal white matter and cortical gray matter variations in autistic adults aged 30-73 years. Mol Autism;2025 (Mar 6);16(1):16.

BACKGROUND: Autism spectrum disorder (ASD) is a lifelong condition that profoundly impacts health, independence, and quality of life. However, research on brain aging in autistic adults is limited, and microstructural variations in white and gray matter remain poorly understood. To address this critical gap, we assessed novel diffusion MRI (dMRI) biomarkers, free water, and free water corrected fractional anisotropy (fwcFA), and mean diffusivity (fwcMD) across 32 transcallosal tracts and their corresponding homotopic grey matter origin/endpoint regions of interest (ROIs) in middle and old aged autistic adults. METHODS: Forty-three autistic adults aged 30-73 and 43 age-, sex-, and IQ-matched neurotypical controls underwent dMRI scans. We examined free water, fwcFA, fwcMD differences between the two groups and age-related pattern of each dMRI metric across the whole brain for each group. The relationships between clinical measures of ASD and free water in regions that significantly differentiated autistic adults from neurotypical controls were also explored. In supplementary analyses, we also assessed free water uncorrected FA and MD using conventional single tensor modeling. RESULTS: Autistic adults exhibited significantly elevated free water in seven frontal transcallosal tracts compared to controls. In controls, age-related increases in free water and decreases in fwcFA were observed across most transcallosal tracts. However, these age-associated patterns were entirely absent in autistic adults. In gray matter, autistic adults showed elevated free water in the calcarine cortices and lower fwcMD in the dorsal premotor cortices compared to controls. Lastly, age-related increases in free water were found across all white matter and gray matter ROIs in neurotypical controls, whereas no age-related associations were detected in any dMRI metrics for autistic adults. LIMITATIONS: We only recruited cognitively capable autistic adults, which limits the generalizability of our findings across the full autism spectrum. The cross-sectional design precludes inferences about microstructural changes over time in middle and old aged autistic adults. CONCLUSIONS: Our findings revealed increased free water load in frontal white matter in autistic adults and identified distinct age-associated microstructural variations between the two groups. These findings highlight more heterogeneous brain aging profiles in autistic adults. Our study also demonstrated the importance of quantifying free water in dMRI studies of ASD.

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28. Smith JV, Howard M, Menezes M, Burroughs C, Pappagianopoulos J, Sastri V, Brunt S, Miller R, Parenchuk A, Kuhn J, Mazurek MO. Building Capacity: A Systematic Review of Training in the Diagnosis of Autism for Community-Based Clinicians. Autism Res;2025 (Mar 5)

In an effort to reduce the « waitlist crisis, » researchers have developed training programs to educate community-based clinicians in best-practice autism diagnostic assessments. This systematic review aims to synthesize the effectiveness and implementation outcomes of such trainings. The following databases were searched from inception until August 2023: PubMed, Web of Science, APA PsycINFO, CINAHL, ERIC, and a select number from Google Scholar. Ten studies were included in the present review because they met the following criteria: development and/or evaluation of a training for practicing community-based clinicians to diagnose autism, published full-text in English, and original research. Risk of bias was assessed through an adapted NIH quality assessment tool. Only seven distinct training programs in autism diagnosis for practicing community-based clinicians were identified. Trainings demonstrated preliminary efficacy in the improvement of clinician knowledge, self-efficacy, practice behavior, and diagnostic accuracy. Many of the trainings had a reported positive impact on the community and were feasible to participate in; however, systems-level factors (e.g., time and reimbursement) remain as barriers to community-based diagnosis. Findings from the present review position clinician training as a promising strategy to increase families’ timely access to an autism diagnosis. More research on training models is needed due to both the limited number of trainings and the limited reported effectiveness and implementation outcomes. Future implementation studies are also needed to reduce systems-level barriers and to aid in the determination of what trainings best fit the needs of different contexts.

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29. Tsujimura K, Ortug A, Alatorre Warren JL, Shiohama T, McDougle CJ, Marcus RE, Tseng CJ, Zürcher NR, Mercaldo ND, Faja S, Maunakea A, Hooker J, Takahashi E. Structural pathways related to the subventricular zone are decreased in volume with altered microstructure in young adult males with autism spectrum disorder. Cereb Cortex;2025 (Mar 6);35(3)

Autism spectrum disorder is a neurodevelopmental condition characterized by reduced social communication and repetitive behaviors. Altered neurogenesis, including disturbed neuronal migration, has been implicated in autism spectrum disorder. Using diffusion MRI, we previously identified neuronal migration pathways in the human fetal brain and hypothesized that similar pathways persist into adulthood, with differences in volume and microstructural characteristics between individuals with autism spectrum disorder and controls. We analyzed diffusion MRI-based tractography of subventricular zone-related pathways in 15 young adult men with autism spectrum disorder and 18 controls at Massachusetts General Hospital, with validation through the Autism Imaging Data Exchange II dataset. Participants with autism spectrum disorder had reduced subventricular zone pathway volumes and fractional anisotropy compared to controls. Furthermore, subventricular zone pathway volume was positively correlated (r: 0.68; 95% CI: 0.25 to 0.88) with symptom severity, suggesting that individuals with more severe symptoms tended to have larger subventricular zone pathway volumes, normalized by brain size. Analysis of the Autism Imaging Data Exchange cohort confirmed these findings of reduced subventricular zone pathway volumes in autism spectrum disorder. While some of these pathways may potentially include inaccurately disconnected pathways that go through the subventricular zone, our results suggest that diffusion MRI-based tractography pathways anatomically linked to the periventricular region are associated with certain symptom types in adult males with autism spectrum disorder.

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30. Tunçak S, Gören B, Uzbay T, Öz P. Assessment of Empathy-Like Behaviour in Valproic Acid-Induced Rat Model of Autism. Int J Dev Neurosci;2025 (Apr);85(2):e70008.

Prenatal VPA exposure is used to model ASD-like symptoms. Disrupted empathy is frequently observed in individuals with ASD, but empathy-like behaviour is not well documented in animal models. Pregnant Wistar Albino rats were administered either 400 mg/kg VPA or saline i.p. on E12.5. Empathy-like behaviour was assessed at P30 and P60 in both female and male offspring, who were also tested for olfactory discrimination, sociability, locomotor activity, and pre-pulse inhibition. Prenatal exposure to VPA significantly impaired empathy-like behaviour, as measured by the duration of time the subject spent with its sibling and the frequency of attempts to open the restrainer door. When P30 and P60 results were compared within groups, a developmental arrest in empathy-like behaviour was observed in the VPA group, whereas the control group showed improvement in their scores. Prenatal exposure to VPA also resulted in significantly decreased sociability and pre-pulse inhibition rates. In this study, an adapted version for measuring empathy-like behaviour has been proposed. This version involved a restrained sibling and no prior training, allowing the measurement to be independent of learning, memory, and stranger anxiety. The results show that VPA has negative effects on social development and is a valid tool for modelling ASD in both females and males.

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31. Umut İ, Köse S. The Relationship Between Autistic Traits, Internet Addiction, Perceived Social Support and Life Satisfaction. Noro Psikiyatr Ars;2025;62(1):34-40.

INTRODUCTION: We aimed to examine the relationship between autistic traits, internet addiction and multidimensional perceived social support in individuals aged over 18 years in a non-clinical population sample. METHODS: Volunteers were invited to the study via social media and e-mail, and the data were collected using an online questionnaire form. The research sample consists of 355 participants. The socio-demographic and internet usage information of the participants were collected via the Personal Information Form. Autism-Spectrum Quotient (AQ), Young-Internet Addiction Test (Y-IAT), Multidimensional Scale of Perceived Social Support (MSPSS), and The Satisfaction with Life Scale (SWLS) which were administered to the participants. RESULTS: As the AQ scores increased, the scores of the Y-IAT also increased, and MSPSS and SWLS scores decreased. According to our results, autistic traits (ATs) were associated with internet addiction, perceived social support and life satisfaction. A positive and significant relationship was found between internet addiction and the sub-dimensions of the autism spectrum questionnaire, such as social skills, shifting attention, attention to detail and communication scores. We stated that 10% of the total variance regarding internet addiction, 8% of the total variance regarding social support and 2% of the total variance regarding life satisfaction are explained by autistic traits. Also, as the level of internet addiction increases, the perceived social support and life satisfaction levels decrease. CONCLUSION: Individuals with more ATs are more prone to internet addiction. ATs negatively predicted the perceived social support and life satisfaction. Preventive and therapeutic algorithms need to be developed for individuals with autistic traits.

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32. Wang T, Ma H, Ge H, Sun Y, Kwok TT, Liu X, Wang Y, Lau WKW, Zhang W. The use of gamified interventions to enhance social interaction and communication among people with autism spectrum disorder: A systematic review and meta-analysis. Int J Nurs Stud;2025 (Feb 27);165:105037.

BACKGROUND: Traditional gamified interventions and serious games have been widely employed by therapists and researchers working with people with autism spectrum disorder. Recent studies have also indicated a trend towards technology-based gamification for training behavioral and social skills in autistic people. Nevertheless, the effectiveness of these gamified interventions in enhancing social interaction and communication outcomes among autistic people remains unclear. OBJECTIVE: This systematic review and meta-analysis of existing gamified interventions focused on people with autism spectrum disorder aimed to provide an overview of commonly used gamification elements and features for enhancing their social interaction and communication outcomes. METHODS: A total of 11 bibliographic databases were systematically searched from inception to April 2024. Experimental studies, including but not limited to randomized controlled trials, quasi-experimental studies (e.g., non-randomized studies, pre-post studies), and pilot studies. Medical Subject Heading terms, keywords, and free words such as ‘ASD’, ‘gamification’, and ‘social interaction and communication’ were used for the search. The extracted data were subjected to a narrative synthesis, and the study outcomes were subjected to a meta-analysis. Gamified elements were classified based on the most widely adopted gamification elements for learning purposes. RESULTS: Twenty studies involving 349 participants were eligible. Of 297 participants included for descriptive synthesis, 246 (82.8 %) were male, with a mean age at study entry of 11.55 years. Children and adolescents with autism spectrum disorder were the most common target populations (k = 19, 95 %), followed by the general adult population (k = 1, 5 %). Two main themes related to the application of gamification interventions emerged from the included studies: the augmentation of engagement in the intervention and the amplification of the desired interventional outcomes. Commonly used gamification elements included feedback (k = 10, 50 %), rewards (k = 10, 50 %), custom learning (k = 9, 45 %), monitoring (k = 9, 45 %), and personalization (k = 8, 40 %). Four of the included studies applied 5-7 elements in their interventions. Five studies were included in the meta-analysis, showing a positive overall effect of gamified interventions on social interaction and communication (pooled standardized mean difference: 0.46; 95 % CI 0.08, 0.85; I(2) 0%). CONCLUSION: This study offers a comprehensive review of gamification elements and gamified interventions currently used in social interaction and communication skills among people with autism spectrum disorder. The potential benefits of included studies targeting social interaction and communication skills highlight the need for further in-depth investigation in this group. Future randomized controlled trials with more comprehensive development and trials that apply game-related design are suggested.

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33. Weiner L, Bemmouna D, Costache ME, Martz E. Dialectical Behavior Therapy in Autism. Curr Psychiatry Rep;2025 (Mar 6)

PURPOSE OF REVIEW: Recent research indicates that Dialectical Behavior Therapy (DBT) is feasible, acceptable, and effective for autistic adults. This review aims to provide conceptual arguments and empirical evidence to support DBT as a relevant therapeutic alternative for autistic individuals experiencing emotion dysregulation (ED). RECENT FINDINGS: ED is frequent in autism whereby it is associated with severe mental health challenges. However, appropriate therapeutic options are limited. Currently, DBT has amassed the most evidence for treatment of ED across a range of clinical conditions, although it was originally developed for borderline personality disorder (BPD). In the context of autism, there is evidence supporting the efficacy of DBT for ED, life-threatening behaviors and depression, but adaptations are likely to improve its dissemination and acceptability. While similar biosocial factors seem to be involved in ED in BPD and autism, alexithymia is prominent in autism and autistic features such as sensory sensitivity and social overload also contribute to ED in autistic adults. CONCLUSION: Given the significant impact of ED on the well-being of autistic adults, there is an urgent need to enhance our understanding of the mechanisms involved in ED in autism and the adaptations likely to improve the acceptability and dissemination of DBT for autistic people.

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34. Ye F, Hu P, Yang A, Du L, Xu X, Liu J, Luan J, Xu M, Lv K, Liu B, Wang K, Wang Y, Shu N, Ouyang G, Yu H, Wang Y, Yuan Z, Shmuel A, Xu P, Zhang Q, Ma G. Reduced local functional connectivity correlates with atypical performances in children with autism spectrum disorder. Brain Imaging Behav;2025 (Mar 6)

To characterize local functional connectivity (FC) differences in children with autism spectrum disorder (ASD) compared to typically developed (TD) children, and to analyze the correlation between local FC and the atypical behavior in autistic children. Thirty children with ASD and 25 TD children were recruited. Participants underwent rs-fMRI scans, and regional homogeneity (ReHo) of specific brain regions was measured. Performance was assessed using the Autism Behavior Checklist (ABC) and the Gesell Development Diagnosis Scale (GDDS). Children with ASD demonstrated reduced ReHo in the right occipital lobe lingual, left postcentral, and left precuneus compared with TD children. Within the ASD group, the ABC total score was negatively related to ReHo values in both the left postcentral and left precuneus. The ReHo value in the left postcentral was negatively correlated with ABC scores related to sensory and body/object use, while the ReHo value in the left precuneus was negatively correlated with scores related to social skills and self-help. The mean Developmental Quotient (DQ) of GDDS was positively correlated with the ReHo value in the right occipital lobe lingual. Besides, the ReHo value in this region was positively correlated with the DQ of adaptive behavior. The ReHo value in the left postcentral was positively correlated with the DQ of fine motor skills (p < 0.05 for all). Children with ASD exhibit reduced local FC in specific brain regions, which are associated with specific performances in autism. These findings may provide a novel insight into the pathophysiological mechanisms of ASD.

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35. Yorke I, Murphy J, Rijsdijk F, Colvert E, Lietz S, Happé F, Bird G. Alexithymia may explain the genetic relationship between autism and sensory sensitivity. Transl Psychiatry;2025 (Mar 5);15(1):75.

Sensory symptoms are highly prevalent amongst autistic individuals and are now considered in the diagnostic criteria. Whilst evidence suggests a genetic relationship between autism and sensory symptoms, sensory symptoms are neither universal within autism nor unique to autism. One explanation for the heterogeneity within autism and commonality across conditions with respect to sensory symptoms, is that it is alexithymia (a condition associated with difficulties identifying and describing one’s own emotions) that has a genetic relationship with sensory symptoms, and that alexithymia commonly co-occurs with autism and with several other conditions. Using parent-reports of symptoms in a sample of adolescent twins, we sought to examine the genetic association between autism, alexithymia and sensory symptoms. Results showed that the genetic correlation between autism and sensory symptoms was not significant after controlling for alexithymia. In contrast, after controlling for variance in alexithymia explained by autism, the genetic correlation between alexithymia and sensory symptoms was significant (and the proportion of variance explained by genetic factors remained consistent after controlling for autism). These results suggest that 1) alexithymia and sensory symptoms share aetiology that is not accounted for by their association with autism and 2) that the genetic association between sensory symptoms and autism may be, in part or wholly, a product of alexithymia. Future research should seek to examine the contribution of alexithymia to sensory symptoms across other conditions.

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36. Yu Y, Zhang B, Wang N, Zuo Z, Ji P, Zhao F. Unravelling lipidomic disruptions across multiple tissues in Chd8-mutant ASD mice through integration of lipidomics and single-cell transcriptomics. Gut;2025 (Mar 6);74(4):684-686.

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37. Zhou X, Deng YY, Qian L, Zhong SS, Zou FY, Shen LS, Luo XW, Yin BY, He YF, Guo RM. Alterations in brain iron and myelination in children with ASD: a susceptibility source separation imaging study. Neuroimage;2025 (Mar 6):121128.

Autism spectrum disorder (ASD) may have both brain iron and myelin changes, but traditional methods fail to differentiate them. This study utilized an advanced susceptibility source separation technique, APART-QSM (iterAtive magnetic suscePtibility sources sepARaTion), to investigate brain iron and myelination alterations in children with ASD and link neuroimaging findings to clinical symptom severity. Sixty-five school-aged children with ASD and Sixty age- and sex-matched typically developing children were included. By providing enhanced and broader detection capabilities compared to conventional QSM, APART-QSM uncovered reduced iron content across multiple deep gray matters and decreased myelin content in the globus pallidum in ASD. The iron and myelin contents in the globus pallidum and iron content in the substantia nigra were significantly negatively correlated with ASD symptom severity. Coexisting abnormal brain iron and myelin contents in ASD, particularly in the globus pallidus, offer innovative and promising insights into ASD pathology and potential biomarkers.

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