1. The people behind the papers – Nia Teerikorpi. Development. 2025; 152(12).

Autism spectrum disorder and congenital heart disease can occur together, but the mechanisms underlying this co-morbidity are unclear. In a new study, Helen Willsey and colleagues study a group of genes that are associated with both autism and congenital heart disease. They identify the role of ciliary biology in the shared biology of both conditions. We caught up with first author Nia Teerikorpi to find out more about this work.

Lien vers le texte intégral (Open Access ou abonnement)

2. Acuña-Rodríguez M, Fiorillo-Moreno O, Delgado P. Genetic and Environmental Epidemiology of Autism Spectrum Disorder: A Critical Gap of Interest in Global Psychiatry. Psychiatr Res Clin Pract. 2025; 7(2): 91-3.

Recently, the lack of evidence regarding primary data on the epidemiology of autism spectrum disorder (ASD) in Brazil has been highlighted. The discussion underscores the concerning rise in autism diagnoses over recent decades, based on data from the United Kingdom. Although various factors have been proposed to explain this phenomenon, much of the available information remains inconclusive and restricted to specific geographic regions. This raises concerns about the validity of published findings, given the reported influence of genetic and environmental factors, both of which are key risk determinants for ASD and vary across regions and populations.

Lien vers le texte intégral (Open Access ou abonnement)

3. Akhtar M, Nashwan AJ. Evaluating Wharton’s jelly-derived stem cell therapy in autism: Insights from a case study. World J Methodol. 2025; 15(2): 100074.

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder affecting over 2% of the global population, marked by social communication deficits and repetitive behaviors. Kabatas et al explored the efficacy and safety of Wharton’s jelly-derived mesenchymal stem cell (WJ-MSC) therapy in a 4-year-old child with ASD. Using the childhood autism rating scale and Denver II developmental screening test, significant improvements were seen after six WJ-MSC sessions, with no adverse events over 2 years. Despite promising results, the study’s single-case design limits generalizability. Larger, multi-center trials are needed to validate the findings and assess long-term effects of WJ-MSC therapy in ASD.

Lien vers le texte intégral (Open Access ou abonnement)

4. Alpuche De Lille MJ, da Teixeira da Silva R, Smythe T. School-based mental health and psychosocial support interventions for children and adolescents with developmental disabilities in low- and middle-income countries: A systematic review. Trop Med Int Health. 2025.

OBJECTIVES: To identify and evaluate the characteristics and reported effects of school-based mental health and psychosocial support interventions targeting children and adolescents with neurodevelopmental disorders (NDDs) in low- and middle-income countries, as well as those involving their parents, teachers or peers. METHODS: A systematic search of MEDLINE, EMBASE, ERIC, Global Health and PsycINFO was conducted in October 2024. Eligible studies included randomised controlled trials, quasi-experimental and qualitative research on school-based interventions in low- and middle-income countries for children and adolescents with NDDs (including attention deficit hyperactivity disorder [ADHD], autism, intellectual disabilities, epilepsy, cerebral palsy and foetal alcohol syndrome), as well as those involving their caregivers, teachers or peers. Only studies published in English, Spanish or Portuguese were included. A narrative synthesis was performed. RESULTS: A total of 2158 titles were screened, with 29 studies from 13 countries included. Most studies used a quasi-experimental design (n = 19, 66%). Nearly half focused on children and adolescents with NDDs only (n = 14, 48%), with intellectual disabilities being the most targeted condition (n = 12, 34%), followed by autism (n = 8, 23%) and ADHD (n = 8, 23%). Intervention strategies included multimodal approaches (n = 6, 21%) and educational workshops (n = 6, 21%). Targeted outcomes were social skills (n = 7, 16%) and knowledge attitudes and practice (n = 5, 12%). Lifelong learning (n = 11, 33%) and educational system-strengthening interventions (n = 10, 31%) were the primary content areas. The majority of studies exhibited a moderate to high risk of bias. CONCLUSIONS: Schools offer strategic platforms for delivering mental health and psychosocial support interventions to children and adolescents with NDDs in low- and middle-income countries, involving families, teachers and peers. While improvements in social skills and knowledge, attitudes and practices were reported, heterogeneity and methodological limitations constrain the generalisability of findings. Future research should address long-term impacts and expand to underrepresented conditions.

Lien vers le texte intégral (Open Access ou abonnement)

5. Amanollahi Z, GhasemiNiaei F, Davarani FF, Esfahan MM. Development of an Integrated Developmental Model for Adaptation with Autistic Children in Family System. J Autism Dev Disord. 2025.

Autistic children face challenges in communication, verbal skills, and emotional abilities, which, along with their special-care needs, place additional pressure on families, leading to difficulties in maintaining family balance and parental management. Therefore, the present study aimed to design and develop an integrated developmental model of autistic children based on parent-child adaptation within the family system. This qualitative research was conducted using a grounded theory approach. The population consisted of parents of autistic children in Tehran, from whom 14 parents (both men and women) were selected through purposive and theoretical sampling at the Masir Center and were interviewed, adhering to ethical considerations, lasting approximately 50 to 60 min. Following the interviews, the findings were coded using Strauss and Corbin’s method at three levels: open coding, axial coding, and selective coding. The findings of this research were discussed within the framework of underlying factors (enriching children’s experiences), predisposing factors (environmental supports), mediating factors (organizational supports), growth-oriented coping strategies (implementation of an integrated development education program), and consequential outcomes (integrated developmental transformation of autistic children). Findings revealed the impact of collaboration and coordination within the support and therapeutic system on effective adaptation and development in autistic children. Therefore, attending to a multifaceted and integrated perspective in the development and adaptation processes of these children within the family system is required when interacting with them and designing educational programs.

Lien vers le texte intégral (Open Access ou abonnement)

6. Blichert-Refsgaard L, Lindgren MS, Sundelin MO, Graugaard-Jensen C, Nørgaard M, Jensen JB. Use of Photodynamic diagnosis (PDD) at primary TURB: Potential influence on recurrence and progression rates in NMIBC: a registry-based study using a country cohort. Scand J Urol. 2025; 60: 115-23.

OBJECTIVE: To investigate whether department-level use of photodynamic diagnosis (PDD) for primary transurethral bladder resections (TURBs) is associated with recurrence and progression rates in a non-selected, national cohort. Non-muscle invasive bladder cancer (NMIBC) has high global prevalence, and is characterized by high recurrence risk and risk of progression to muscle-invasive bladder cancer. Treatment effects and long-term outcomes rely on diagnostic accuracy, which may be enhanced using PDD for TURB. PDD-use in Denmark has varied between departments. Material and Methods: We identified all Danish patients with primary NMIBC during 2011-2017 via the Danish National Patient Registry (DNPR) and divided them into four groups based on the treating department’s annual PDD use. We included 8,502 patients; 76% men, median age at diagnosis: 70 years (interquartile range [IQR]: 63, 77). Primary outcomes were recurrence- and progression risk differences (RDs) at 2 and 5 years depending on the PDD-exposure group. Results were additionally stratified by baseline pathological risk group. RESULTS: The PDD-use varied from <40% of primary TURBs in group 1 to >74% in group 4. Overall 2- and 5 years recurrence risks were 39.9% [95% CI: 38.8; 41.0] and 48.1% [95% CI: 46.9; 49.3], while risks of progression were 17.5% [95% CI: 16.7; 18.4] and 22.9% [95% CI: 21.9; 23.9]. PDD-exposure groups 2-4 had lower recurrence- and progression risks compared to group 1, most pronounced for high-risk NMIBC. CONCLUSIONS: PDD-use in primary TURBs correlates with reduced 2- and 5 years recurrence- and progression risks in NMIBC. The PDD benefit was most noticeable in higher risk NMIBC. Photodynamic diagnosis, primary Trans Urethral Resection of the Bladder (TURB), progression risk, recurrence risk.

Lien vers le texte intégral (Open Access ou abonnement)

7. Caraballo RH, Fortini S, Beltrán L, Semprino M, Galicchio S, Espeche A, Reyes Valenzuela G, Chacón S, Gamboni B, Adi J, Fasulo L, Calvo A, Cachia P. Focus on epilepsy and epilepsy syndromes in children with autism spectrum disorders: a study of 74 patients. Brain Dev. 2025; 47(4): 104385.

BACKGROUND: Epilepsy is a common finding in children with autism spectrum disorders (ASD), but few studies describe the characteristics of epilepsy in these children. Our study aimed to characterize the electroclinical features of children with ASD and epilepsy through a retrospective multicenter study. MATERIAL AND METHODS: Patients with ASD who subsequently developed epilepsy seen at nine pediatric neurology departments were included. Patients with developmental and epileptic encephalopathies (DEE), chronic neurological diseases with epilepsy who developed autism, and those with non-epileptic paroxysmal disorders were excluded. RESULTS: Overall, 74 patients were included, accounting for 15 % of 494 children with ASD seen between 2015 and 2023; 39 were female (52.7 %) and 35 male (47.3 %). Focal epilepsies were identified in 43 patients (58.1 %), which were non-self-limited in 24 and self-limited in 19. Generalized epilepsies were observed in 19 (25.7 %), including six with generalized tonic-clonic seizures alone (one in childhood, five in adolescence), nine with juvenile myoclonic epilepsy, one with childhood absence epilepsy, and three with juvenile absence epilepsy. Eight patients (10.8 %) had epileptic encephalopathies: EE-SWAS in six and epilepsy with myoclonic atonic seizures in two. Four patients (5.4 %) had combined focal and generalized epilepsy. No significant differences were found between epilepsy syndrome or type of epilepsy, seizure type, and comorbidities. CONCLUSIONS: No specific epilepsy phenotype was identified in our patients with ASD; the types of epilepsy and syndromes were similar to those seen in the general population. Management should address both epilepsy and the broader complexities of ASD through an integrated approach.

Lien vers le texte intégral (Open Access ou abonnement)

8. Chen Z, Yang Q, Zhang S, Yang DJ, Peng T. Mendelian randomization analysis does not reveal a causal association between genetic liability to chronic pain and autism spectrum disorder. J Psychosom Res. 2025; 195: 112189.

OBJECTIVE: Although observational studies suggest potential comorbidities between chronic pain (CP) and autism spectrum disorder (ASD), causal relationship remains unclear. This study aimed to investigate the causal association between genetic liability to CP and ASD using a bidirectional Mendelian Randomization (MR) analysis. METHODS: Genome-wide association summary-level data for CP and ASD were sourced from public databases. Single nucleotide polymorphisms (SNPs) were used as instrumental variables (IVs) in MR analysis. Inverse variance weighted (IVW) was the primary MR method, with MR-Egger, weighted median, and maximum likelihood analyses supplementing IVW results. Forward MR analysis evaluated the causal effect of CP on ASD, and reverse MR analysis assessed the causal impact of ASD on CP. Various sensitivity tests were performed for MR results’ reliability. RESULTS: The forward MR analysis found no causal effect of seven CP types on ASD (P > 0.05). Similarly, reverse MR analysis showed no causal effect of ASD on seven CP types (P > 0.05). Sensitivity tests confirmed results’ reliability: (i) Cochran’s Q test showed no significant heterogeneity; (ii) MR-Egger intercept test and MR-PRESSO global test indicated no horizontal pleiotropy; (iii) leave-one-out test confirmed the stability of the MR results. CONCLUSION: This bidirectional MR analysis did not find evidence for a causal relationship between genetic liability to CP and ASD. The observed comorbidity may be due to shared mechanisms rather than direct causation. Further research is needed to explore these mechanisms and inform therapeutic strategies.

Lien vers le texte intégral (Open Access ou abonnement)

9. Coco ER, Munson J, John TS, Dager SR, Botteron K, Elison J, Garic D, Hazlett H, Lee C, Marrus N, Pruett JR, Jr., Schultz R, Shen M, Zwaigenbaum L, Piven J, Estes A. Sleep in Infants with Down Syndrome or Familial Likelihood of Autism in the First Year of Life. J Autism Dev Disord. 2025.

Sleep problems have been associated with atypical development, but there is limited understanding of when sleep problems arise and how they differ across clinical populations. We aimed to evaluate sleep characteristics of infants with Down syndrome (DS), higher familial likelihood of autism (HL) and lower familial likelihood of autism (LL) at 6 and 12 months of age. Participants were from two longitudinal, multi-site, studies. Sleep was estimated by parent report on the Brief Infant Sleep Questionnaire at 6 months (59 DS, 173 HL, 54 LL); 12 months (58 DS, 129 HL, 30 LL); and in a longitudinal subset at both 6 and 12 months (100 HL; 23 LL; 33 DS). At 6-months, DS parents reported less concern about infant sleep and less night wakefulness than LL parents; HL parents reported longer sleep onset latency (SOL). At 12 months DS parents reported less night sleep and more night wakefulness; HL parents reported less night sleep, more night wakefulness and longer SOL compared to LL. Night wakefulness increased significantly in the DS and HL groups from 6 to 12 months of age. A higher proportion of DS and HL infants decreased Night Sleep and increased Night Wakefulness compared with the LL group. A higher proportion of DS infants increased SOL compared with the LL group. Sleep alterations are present in the first year of life and may differ in DS and HL infants. The mechanisms behind these sleep alterations may be an important early intervention target.

Lien vers le texte intégral (Open Access ou abonnement)

10. Collins E, Edjoc R, Farrow A, Dharma C, Georgiades S, Holmes K, Orchard C, O’Donnell S, Palmeter S, Salt M, Al-Jaishi A. Prevalence of autism among adults in Canada: results from a simulation modelling study. BMJ Open. 2025; 15(6): e089414.

OBJECTIVE: To estimate the prevalence of autism among adults living in Canada. DESIGN: A Monte Carlo simulation modelling approach was employed. Input parameters included adult population estimates and mortality rates; autism population all-cause mortality risk ratios; and autism prevalence estimates derived from child and youth data due to the lack of adult data. This approach was executed through 10 000 simulations, with each iteration generating a distinct data scenario. Prevalence estimates were reported as the mean with the 2.5th and 97.5th percentiles, corresponding to a 95% simulation interval (SI). SETTING: Where possible, Canadian data sources were used, including the 2019 Canadian Health Survey on Children and Youth and Statistics Canada mortality rates and population estimates. PRIMARY OUTCOME MEASURE: National prevalence estimates of autistic adults living in private dwellings in Canada, with variations in prevalence by sex at birth and province/territory considered. RESULTS: The findings suggest the prevalence of autism among adults in Canada to be 1.8% (95% SI 1.6%, 2.0%). National prevalence estimates by sex at birth were 0.7% (95% SI 0.6%, 0.9%) for females and 2.9% (95% SI 2.6%, 3.2%) for males. Provincial/territorial estimates ranged from 0.7% in Saskatchewan (95% SI 0.3%, 1.3%) to 3.6% in New Brunswick (95% SI 2.4%, 5.1%). CONCLUSIONS: The limited availability of data on autistic adults constrains our ability to fully understand and address their unique needs. In this study, autism prevalence was estimated based on diagnosed cases, which excludes individuals without a formal diagnosis. Additionally, other factors such as data availability and methodological assumptions may influence the modelling of prevalence estimates. As a result, our findings should be interpreted within the context of these limitations. Nevertheless, this study provides a valuable reference point for understanding autism prevalence among adults in Canada.

Lien vers le texte intégral (Open Access ou abonnement)

11. Currey L, Harvey T, Pelenyi A, Piper M, Thor S. Mechanisms of brain overgrowth in autism spectrum disorder with macrocephaly. Front Neurosci. 2025; 19: 1586550.

Autism spectrum disorder (ASD) is a highly prevalent human disorder with extensive clinical and genetic heterogeneity. One notable ASD subgroup that often manifest with more severe symptoms comprises individuals with an enlarged head (macrocephaly), often accompanied by an enlarged brain (megalencephaly). Here, we focus on the macrocephalic ASD subgroup and discuss the biological processes that may underlie brain overgrowth in individuals with ASD, including excess neurogenesis or gliogenesis, decreased cell death, neuronal hypertrophy, and elevated myelination. We also discuss the signaling and epigenetic pathways implicated in macrocephalic ASD. By examining the biological processes and the molecular pathways involved we seek to provide insight into the mechanisms underpinning macrocephalic ASD.

Lien vers le texte intégral (Open Access ou abonnement)

12. Downs J, Adams M. Re-imagining connection: the role of late autism diagnosis in eating disorder recovery and social support. J Eat Disord. 2025; 13(1): 120.

This paper explores the complex relationship between autism, social connection, and eating disorder recovery, drawing on the lived experiences of two late-diagnosed autistic adults with histories of longstanding and severe eating disorders. Using narrative and autoethnographic methods, we examine how delayed autism diagnosis intersects with the social dimensions of illness, and the process of treatment and recovery. We identify unique barriers autistic individuals with eating disorders face in building meaningful social connections, navigating support systems, and accessing appropriate care. By integrating personal insights with existing research, we advocate for earlier autism screening and neurodiversity-affirming treatment approaches that embrace and value autistic differences, including the strengths inherent in neurodivergence. This requires a shift in how social support is conceptualised within eating disorder care, prioritising the creation of meaningful connections that address the unique social and emotional needs of autistic individuals. We argue for clinical practices that not only recognise the challenges faced by neurodivergent individuals but also embrace the strengths they bring, fostering environments where autistic individuals can engage authentically in their recovery process. This approach ultimately benefits patients and treatment providers alike, promoting more inclusive, empathetic, and effective care for all.

Lien vers le texte intégral (Open Access ou abonnement)

13. Dwyer P, Sillas A, Enzler F, Noreña AJ, Saron CD, Rivera SM. Using Psychoacoustic Tasks and Multidimensional Questionnaires to Characterize Auditory Hyperreactivity in Autistic Young People. J Autism Dev Disord. 2025.

Lien vers le texte intégral (Open Access ou abonnement)

14. Gong AT, Wang L, Keung AY, Li J, Kong MM, Yao X, Xian M, Au TK, Shum KK. Heart-Mind-Behavior Parent Training: Randomized controlled trial for Chinese parents of young children with ASD. Behav Res Ther. 2025; 192: 104800.

PURPOSE: Evidence-based ASD interventions in developing countries are usually scarce and expensive for average families. Interventions adopted from the West often lack cultural adaptations and local effectiveness evaluations. In Mainland China, predominant ASD interventions are based on Applied Behavior Analysis (ABA), first developed in the mid-20th century. In this study, a relationship-based parent-mediated intervention, named the Heart-Mind-Behavior Training Program, was developed and evaluated for its effectiveness in Chinese parents of children with ASD. The program included eight weekly 2-h sessions targeting key areas in relationship-based ASD intervention, emphasizing what Chinese parents need help most (parental sensitivity, mind-mindedness, and using symbolic-pretend play to coach children’s socio-emotional skills). METHODS: This study comprised two phases. The pilot study involved 11 parents of ASD at-risk children participating in the program. The main study utilized a randomized waitlist-control design to evaluate the program, with 81 parents of 3- to 6-year-olds with ASD, randomized to either intervention or waitlist-control conditions. RESULTS: The pilot study indicated participant satisfaction, program feasibility, and preliminary efficacy. In the main study, significant intervention effects were found for parental self-efficacy, mind-mindedness, and autonomy support, as indicated by significant group × time interactions. At the 4-month follow-up, child’s ASD symptomatology, parenting stress, parent-child relationship, and parental sensitivity significantly improved in the intervention group compared to baseline or immediate posttest. CONCLUSION: This study demonstrated the benefits of this parent-training program, highlighting its potential for culturally sensitive and effective interventions for Chinese families of young children with ASD.

Lien vers le texte intégral (Open Access ou abonnement)

15. Hashemi F, Hoepner L, Hashemi H, Hoseini M, Omeragić E, Hamidinejad FS, Haluza D, Mititelu M, Guo C. Prenatal exposure to benzene, toluene, ethylbenzene, and xylene (BTEX) and the risk of autism spectrum disorders in children aged 16-37 months: A prospective cohort study. Environ Pollut. 2025; 382: 126700.

Autism spectrum disorder (ASD) as a neurological disorder can result from the interaction of genetic and environmental factors such as air pollution and exposure to chemical pollutants. This study tested the hypothesis that living in areas near petrochemical industries and exposure to benzene, toluene, ethylbenzene, and xylene (BTEX) may adversely affect maternal and fetal health and increase the risk of autism. We conducted a prospective cohort study from 2019 to 2024, following 110 pregnant women divided into exposure and control groups, along with 145 children born during the study [exposure group (n = 80) and control group (n = 65)]. Prenatal urinary BTEX concentrations were measured using gas chromatography-mass spectrometry (GC/MS). The MCHAT-R/F screening tool was used to track the child’s behavior in terms of the occurrence of autism spectrum symptoms. The results showed that the mean concentration of prenatal BTEX urine concentration in the exposed group (557 ng/l) was significantly higher than that in the control group (258 ng/l). The M-CHAT-R/F screening indicated moderate ASD risk in six exposure group children and three control group children; and high ASD risk for four exposure group children and one control group child. The findings in the exposure group revealed a higher incidence of ASD among boys compared to girls (4:2 in medium risk and 3:1 in high risk). Multivariate logistic regression analysis indicated that the prevalence of autism in the exposed group was significantly associated with exposure to benzene (OR, 2.10; 95%CI, 1.93-2.17; P(value)<0.05) and toluene (OR, 1.7; 95%CI, 1.62-1.81; P(value)<0.05). Living in industrial areas and perinatal exposure to BTEX compounds may increase the risk of ASD. Therefore, health impact assessment studies focusing on the health of vulnerable groups before the construction of petrochemical industries, as well as the monitoring of relevant health indices during the operational phase, should be prioritized.

Lien vers le texte intégral (Open Access ou abonnement)

16. Hinde K, Hald GM, Hallford D, Gilmour J, Arendt M, Pavan S, Austin D. Posttraumatic stress symptoms in Australian parents of autistic children: Factor structure of the International Trauma Questionnaire (ITQ) and the Posttraumatic Stress Disorder Checklist for the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (PCL-5). Psychol Trauma. 2025.

OBJECTIVE: Research indicates that parents of autistic children may have a higher risk of posttraumatic stress disorder (PTSD) than parents of neurotypical children. This study was to determine the optimal factor structure of two trauma screening assessments: the PTSD Checklist for Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-5) and the International Trauma Questionnaire, within this parent population. METHOD: Confirmatory factor analysis examined and compared one novel DSM-5 model and 14 previously identified DSM-5 and International Classification of Diseases 11th Revision (ICD-11) trauma symptom models among Australian parents of autistic children (N = 563). RESULTS: Three DSM-5 PTSD models (anhedonia, hybrid, and intrusion/distress) provided a marginal fit, with the novel intrusion/distress model offering a superior fit. None of the five DSM-5 models tested achieved a good overall fit. For ICD-11, a three-factor model best fit the latent structure of PTSD symptoms. For complex PTSD (CPTSD), a two-factor second-order model and a six-factor first-order model provided a superior fit over five alternative CPTSD models. CONCLUSIONS: Results strongly support the internal reliability and construct validity of the ICD-11 PTSD and CPTSD models in Australian parents of autistic children, as measured by the International Trauma Questionnaire. The ICD-11 models outperformed the best DSM-5 models, highlighting their superiority for this population. While more complex DSM-5 models showed better fit than simpler ones, they still did not achieve a good overall fit. Notably, the results were largely consistent when assessing individuals meeting Criterion A for PTSD, specifically in relation to parenting-related traumatic experiences. The International Trauma Questionnaire is a more reliable and suitable tool for assessing PTSD and CPTSD in Australian parents of autistic children. (PsycInfo Database Record (c) 2025 APA, all rights reserved).

Lien vers le texte intégral (Open Access ou abonnement)

17. Jain A, VanSickle E, Zitano L, Moss T, Schrader E. Case Report: An adult with NCKAP1-related neurodevelopmental disorder and autism spectrum disorder. Front Psychiatry. 2025; 16: 1532982.

INTRODUCTION: We describe a 43-year-old man with neurodevelopmental disorder (NDD) with features of autism spectrum disorder (ASD) due to a rare pathogenic variant in the NCKAP1 gene. There are only 5 young adults described in the literature with NCKAP1-related NDD; there are currently no reports of middle-aged or elderly adults with the condition. The most common clinical characteristics include ASD, intellectual disability (ID), speech-language problems, repetitive behaviors, and seizures. CONCLUSION: This case report highlights an adult phenotype of NCKAP1-related NDD with goals to 1.) contribute insight into a rare genetic variant leading to NDD with ASD features and 2.) highlight adult manifestations of NCKAP1-related NDD as a patient in middle adulthood with the condition has not yet been reported.

Lien vers le texte intégral (Open Access ou abonnement)

18. Johnston H, Bacon AM. Autistic traits in fibromyalgia are associated with hypersensitivity and central sensitisation. Psychol Health Med. 2025: 1-17.

Fibromyalgia presents with symptoms of central sensitisation (CS). Allodynia is the defining symptom, with evidence for general hypersensitisation extending beyond the pain symptoms that characterise fibromyalgia, to sensory and psychological domains. Generalised sensory processing sensitivity (SPS) may increase vulnerability to hypersensitisation; while a direct association exists between sensory sensitivity and autistic traits in autistic people, CS symptoms are also associated with autistic traits in a broader participant sample. This study complements previous lines of enquiry by examining the relationship between SPS, CS symptoms and autistic traits in samples with and without fibromyalgia. It proposes that SPS is indirectly associated with autistic traits via CS and that this association is stronger in fibromyalgia because CS symptoms impact social, physical and psychological functioning. A sample was diagnosed with fibromyalgia (n = 260) and another from the general population (n = 139) completed the Sensory Processing Sensitivity Questionnaire, a measure of sensory and psychological sensitivities, the Central Sensitisation Inventory, a measure of CS symptoms, and the Subthreshold Autistic Traits Questionnaire. Higher levels of SPS, CS symptoms and autistic traits were reported in the sample with fibromyalgia, and all three factors were significantly positively correlated. As predicted, CS symptoms fully mediated the relationship between SPS and autistic traits in the sample with fibromyalgia, and less expectedly, also in the control. Participant samples moderated the relationship between CS symptoms and autistic traits, with autistic traits increasing more rapidly with CS symptoms in the sample with fibromyalgia. Results suggest autism may be prevalent in people with fibromyalgia, particularly those with extremely high levels of CS symptoms. However, clinicians should also be aware of the potential to misdiagnose autism in this population, as CS symptoms may elevate self-reported autistic traits.

Lien vers le texte intégral (Open Access ou abonnement)

19. Kwak H, Jacobs NM, Nunez DM, Fernandes P. Assessment of Service Delivery Modifications by Providers Serving Families With Developmental Disabilities During the COVID-19 Pandemic. Cureus. 2025; 17(5): e84738.

Background and objective The COVID-19 pandemic has forced healthcare professionals to find innovative ways to deliver healthcare services. The objective of this study is to understand service modifications made by providers to continue care for children with developmental disabilities (DD) and their families during the height of the COVID-19 pandemic and develop best practices for future emergencies. Methods A modified Delphi method was used to understand service delivery modifications for children with DD and providers’ perspectives on these modifications. Ten providers from multiple specialties rated 16 modified practices during the COVID-19 pandemic on four measures: frequency of use in their individual practice, helpfulness in delivering care and/or meeting clients’ learning needs, feasibility of delivering care and/or meeting clients’ learning needs, and likelihood to use after the COVID-19 pandemic. A three-round modified Delphi process with an expert panel discussion was conducted to achieve consensus agreement on best practices. Results Consensus, defined as at least 70% of the panelists giving a high rating (4 or 5) or low rating (1 or 2) for a modified practice, was reached for a total of nine (56%) of the 16 modified practices. Panelists agreed that modifications helpful for service delivery beyond the pandemic included dedicated staff for follow-up and referrals; electronic portals to send reminders, information, and handouts; personalized handouts and materials targeting clients’ needs; and real-time client feedback. Panelists also reached a positive consensus that virtual visits, alternate service delivery settings, and the provision of personal protective equipment were helpful and feasible to enhance care delivery. However, negative consensus was noted on keeping in-person visits brief and strictly for essential activities. Conclusions This study highlights important service modifications that were helpful during the COVID-19 pandemic from the perspective of service providers.

Lien vers le texte intégral (Open Access ou abonnement)

20. Lee NY, Chung IW, Wachtel LE, Kim YS. Electroconvulsive Therapy for Self-injurious Behavior in Autism Spectrum Disorders: Case Series. J ect. 2025.

Lien vers le texte intégral (Open Access ou abonnement)

21. Li J, Chai X, Song D, Wang M, Sun P, Zhao Y, Ren D, Liu F, Ni H, Jiang Y, Zhu X, Li E, Zhao S. Acer truncatum oil ameliorates autism-like behaviours by promoting maturation of oligodendrocytes and inhibiting neuroinflammation: the role of the brain-gut axis. Food Funct. 2025.

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder characterized by deficits in social communication and repetitive behaviours. The gut microbiota plays a pivotal role in the etiology of autism spectrum disorder, and its modulation represents a promising therapeutic strategy to alleviate autism-like behaviours. The purpose of this study was to evaluate the effects of Acer truncatum oil (ASO) on autism-like behaviours in an autistic mouse model, BTBR T(+) Itpr3(tf)/J (BTBR) mice, and to assess the related molecular mechanisms. The juvenile BTBR mice were administered with ASO for 36 consecutive days by gavage. Behaviour tests showed that ASO remarkably alleviated the autism-like behaviours of BTBR mice. In addition, the supplementation with ASO promoted the maturation of oligodendrocytes and suppressed microglial over-activation, and reduced the IL-1β and TNF-α levels in the hippocampus of the BTBR mice. Oral ASO administration also improved gut microbiota imbalances in BTBR mice by reducing the abundance of the harmful bacterium Mycoplasma and the ratio of Firmicutes to Bacteroidetes. Additionally, ASO decreased the expression of TNF-α and IL-1β, and increased the levels of ZO-1, claudin-1 and occludin in the intestine, thereby reducing intestinal inflammation and repairing intestinal barrier damage. Our results indicate that ASO has great potential in the treatment of autism, providing theoretical basis for the development of autism drugs.

Lien vers le texte intégral (Open Access ou abonnement)

22. Lundholm M, Stålberg A. Parents’ perceptions on seeking emergency medical care for their child with autism spectrum disorder – a Swedish perspective. J Pediatr Nurs. 2025; 84: 235-42.

BACKGROUND: Children with autism spectrum disorder seek acute medical care more frequently than neurotypical children. Being in a paediatric emergency department setting places considerable strain on both the children and their parents. Research exploring parental perspectives in this area remains limited, with much of the existing literature originating from North American contexts. This study aimed to explore Swedish parents’ perceptions of seeking acute medical care for their children with autism spectrum disorder. METHODS: Seventeen parents were interviewed at a paediatric emergency department within a tertiary hospital in the capital region of Sweden. The interviews were analysed using manifest content analysis. RESULTS: The analysis resulted in the main category Being in a bipartite position, along with three generic categories: A sense of vulnerability, The child’s needs are recognised, and A meaningful encounter occurs. The results revealed experiences of vulnerability and exclusion for both parents and children. However, they also conveyed a sense of partnership with healthcare professionals, in which parents felt heard, involved, and that their child was approached in an individualised and pedagogically informed manner. CONCLUSION: Parental perceptions of seeking acute medical care for their children with ASD reflected a complex situation and a dual experience of vulnerability and meaningful collaboration. These insights provide valuable knowledge to support the development of a patient- and family-centered approach, enabling healthcare professionals to reduce parental distress and foster effective parent-professional partnerships, while actively involving the child.

Lien vers le texte intégral (Open Access ou abonnement)

23. Markfeld JE, Feldman JI, Bush CT, Yoder PJ, Woynaroski TG. Project ImPACT Reduces Social Hyporesponsiveness and Translates to More Optimal Expressive Language Outcomes in Some Infants at Increased Likelihood of Autism. J Autism Dev Disord. 2025.

Low responsiveness to sensory stimuli, particularly stimuli that are social in nature (i.e., social hyporesponsiveness), predicts expressive language in autistic children and in infant siblings of autistic children (Sibs-autism), who are at high likelihood for a future diagnosis of autism and developmental language disorder. However, our understanding of whether social hyporesponsiveness can be addressed via early intervention to improve expressive language outcomes of Sibs-autism is limited. This randomized controlled trial investigated whether Project ImPACT, a caregiver-implemented Naturalistic Developmental Behavioral Intervention (NDBI), has an indirect effect on expressive language outcomes by reducing social hyporesponsiveness. Sibs-autism were randomized into a Project ImPACT group (n = 23) for 12 weeks of intervention, or into a non-Project ImPACT control group (n = 23). Social hyporesponsiveness was measured immediately following intervention, and expressive language was measured three months after the end of intervention. Project ImPACT indirectly influenced distal expressive language outcomes through social hyporesponsiveness, but only for infants whose caregivers had high levels of education at study entry. Clinical implications of the results are discussed.

Lien vers le texte intégral (Open Access ou abonnement)

24. Mudholkar A, St John B, Korostenski L, Hudry K, Lane AE. Engaged Eaters Program-Early Development (EEP-ED) Delivered via Telehealth for Young Autistic Children: A Clinical Case Study. Phys Occup Ther Pediatr. 2025: 1-17.

INTRODUCTION: Feeding difficulties are associated with significant caregiver stress. Caregiver-mediated feeding programs in the family home may be appropriate for addressing the feeding challenges. However, very little literature reports on the feasibility and effectiveness of caregiver-mediated approaches for feeding difficulties. OBJECTIVE: The aim of the study was to examine the feasibility and impact of the (EEP-Early Development (ED)-Telehealth for a young Autistic toddler assessing parent satisfaction, telehealth delivery mode, family-centric feeding goals, parental stress and perceived competence to improve his feeding outcomes, including his mealtime behaviors and increasing his food repertoire and equipping caregivers with strategies to manage challenging behaviors. METHODS: A 28-month-old autistic toddler with feeding difficulties and his caregivers participated in the EEP-ED, delivered via telehealth. Feasibility was evaluated via parent satisfaction and telehealth delivery questionnaires pre- and post-intervention. The primary outcome was family-centred feeding goals measured using Goal-Attainment Scaling (GAS). RESULTS: Family-centric feeding goals were achieved, including increasing the child’s dietary repertoire by 14 new foods and achieving independent drinking and eating. The mother reported high satisfaction, decreased parenting stress, and increased parenting competence. CONCLUSION: Caregiver-mediated interventions delivered via telehealth may be a feasible and effective approach to address mealtime and feeding challenges of young autistic children.

Lien vers le texte intégral (Open Access ou abonnement)

25. Rajagopalan SS, Ghosh S. Recent Developments in the Application of Artificial Intelligence and Machine Learning in Early Screening and Diagnosis of Autism. Methods Mol Biol. 2025; 2952: 233-42.

Autism Spectrum Disorder (ASD or Autism) is a neurodevelopmental disorder that is characterized by challenges in social communication skills and the presence of restricted and repetitive behaviors during early childhood. ASD poses a significant public health challenge with increasing prevalence rates worldwide. Early diagnosis and intervention are critical for improving outcomes in children with ASD. However, current diagnostic methods often involve subjective assessments and are time-consuming. Currently, there are no known biomarkers for ASD, and the diagnosis is based on phenotypic manifestations observed by trained clinicians over time. Additionally, the heterogeneity of Autism and associated co-occurring conditions pose further challenges for screening and early detection. Recent advances in Artificial Intelligence (AI) and Machine Learning (ML) are transforming ASD screening and diagnosis. These computational technologies are capable of analyzing complex datasets and multiple modalities, including multi-omics, brain images, behavior assessments, medical and background information, and registry data to identify patterns that may not be evident to clinicians or parents. This article reviews recent developments in the application of AI/ML for ASD screening and early diagnosis. It also covers the use of AI/ML in understanding the biological underpinnings of ASD.

Lien vers le texte intégral (Open Access ou abonnement)

26. Reddy BK, Annaiyappa N, Bhattacharya A, Chattarji S, Pal R. Generation and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein. J Vis Exp. 2025; (220).

Fragile X syndrome (FXS), a leading inherited cause of autism spectrum disorder and intellectual disability, has been studied extensively using rodent models. More recently, human stem cell-derived model systems have also been used to gain mechanistic insights into the pathophysiology of FXS. However, these studies have focused almost exclusively on neurons. Further, despite growing evidence for a key role of glia in neuronal function in health and disease, little is known about how human astrocytes are affected by FXS. Therefore, in this study, we successfully developed a protocol that captures key spatiotemporal milestones of brain development and aligns with the process of gliogenesis as well. Together this offers a useful framework for studying neurodevelopmental disorders. First, we patterned the human induced pluripotent stem cells into the neuroectodermal lineage with dual Suppressor of Mothers against Decapentaplegic (SMAD) inhibition and small molecules. Subsequently, we utilized specific growth factors and cytokines to generate control (CTRL) and FXS patient-derived astrocytic progenitor cells (APCs). Treatment of APCs with ciliary neurotrophic factor, a differentiating cytokine, regulated and drove the progenitor cells towards astrocytic maturation, yielding forebrain-specific glial fibrillary acidic protein-expressing astrocytes. We found that these astrocytes are functional, as evidenced by their calcium responses to ATP application, and they exhibit dysregulated glycolytic and mitochondrial metabolism in FXS. Taken together, these findings provide a useful experimental platform of human origin for the investigation of cell-autonomous and non-cell-autonomous consequences of alterations in astrocytic function caused by neurodevelopmental disorders.

Lien vers le texte intégral (Open Access ou abonnement)

27. Saby JN, Marsh ED. Considerations and procedures for acquiring EEG as part of multi-site studies for Rett syndrome and other genetic neurodevelopmental disorders. Front Integr Neurosci. 2025; 19: 1574758.

There is increasing interest in the utility of electrophysiological measures such as resting EEG and evoked potential (EPs) to serve as biomarkers to facilitate therapeutic development for rare genetic neurodevelopmental disorders (NDDs). Research on this topic thus far has been encouraging, but has also revealed the necessity for unique methods when acquiring EEG and EPs in children with genetic NDDs. Details of these methods are typically beyond the scope of research publications, yet are crucial to the quality and ultimately, usability of the data. In the current manuscript, we detail the methods that we have developed for acquiring EEG and EPs as part of multi-site studies with participants with Rett syndrome, CDKL5 deficiency disorder, MECP2 duplication syndrome, and FOXG1 syndrome. By making our methods accessible, we hope to support other groups interested in acquiring EEG and/or EPs as part of clinical trials or research studies with individuals with genetic NDDs, including groups without prior experience with EEG/EP acquisition. The paper is presented as step-by-step procedures followed by a discussion of issues that may arise during acquisition and ways to troubleshoot these issues. We then discuss considerations for choosing EEG equipment and study paradigms and briefly, considerations for data analysis.

Lien vers le texte intégral (Open Access ou abonnement)

28. Sato H, Abe M, Takeuchi H, Tomita H, Kure S, Kawashima R, Taki Y. The RELN heterozygous single-nucleotide polymorphism rs362691 increases the prefrontal cortical thickness and modulates systemizing-related autistic tendencies in typically developing children and adolescents. Front Neurosci. 2025; 19: 1574700.

Reelin, a glycoprotein, plays an essential role in the development and maturation of neural circuits in the cerebral cortex during embryonic and postnatal stages. Animal and human studies suggest that insufficient reelin signaling due to RELN mutations may alter the functional properties of the prefrontal cortex and contribute to cortical dysplasia in the frontal and temporal lobes. A heterozygous missense mutation in RELN, rs362691 (p. Leu997Val), has been proposed to increase susceptibility to autism spectrum disorder (ASD). Based on the empathizing-systemizing theory, this study examined whether the rs362691 variant affects cortical thickness and modulates autism-related cognitive traits in typically developing children and adolescents. We hypothesized that individuals carrying the heterozygous Val/Leu genotype would exhibit greater prefrontal cortical thickness than those with the Val/Val genotype, and that this morphological difference would correlate with autistic cognitive traits. We also explored potential thickness differences in the frontal and temporal cortices. Our results showed that the heterozygous Val/Leu group did not differ from the Val/Val group in empathizing or systemizing trait scores. However, individuals with the Val/Leu genotype exhibited increased cortical thickness in the medial prefrontal sulci, which correlated with individual differences in systemizing traits. No significant association was observed between cortical thickness and empathizing traits across the whole brain. Additionally, greater cortical thickness was observed in the right superior temporal sulcus (STS), although this morphological difference was not associated with empathizing or systemizing traits. These findings suggest that while the rs362691 variant does not significantly influence autism-related cognitive styles per se, it may alter cortical morphology in prefrontal regions functionally linked to systemizing traits in typically developing individuals. Several methodological limitations in the employed data should be considered. Future studies with larger, age-appropriate cohorts and standardized personality measures will be necessary to validate and extend these findings.

Lien vers le texte intégral (Open Access ou abonnement)

29. Teerikorpi N, McCluskey KE, Bader E, Lasser MC, Wang S, Nguyen CH, Schmidt JD, Kostyanovskaya E, Sun N, Dea J, Nowakowski TJ, Willsey AJ, Willsey HR. Ciliary biology intersects autism and congenital heart disease. Development. 2025; 152(12).

Autism spectrum disorder (ASD) and congenital heart disease (CHD) frequently co-occur, yet the underlying molecular mechanisms of this comorbidity remain unknown. Given that children with CHD are identified as newborns, understanding which CHD variants are associated with autism could help select individuals for early intervention. Autism gene perturbations commonly dysregulate neural progenitor cell (NPC) biology, so we hypothesized that CHD genes disrupting neurogenesis are more likely to increase ASD risk. Therefore, we performed an in vitro pooled CRISPR interference screen to identify CHD genes disrupting NPC biology and identified 45 CHD genes. A cluster of ASD and CHD genes are enriched for ciliary biology, and perturbing any one of seven such genes (CEP290, CHD4, KMT2E, NSD1, OFD1, RFX3 and TAOK1) impairs primary cilia formation in vitro. In vivo investigation of TAOK1 in Xenopus tropicalis reveals a role in motile cilia formation and heart development, supporting its prediction as a CHD gene. Together, our findings highlight a set of CHD genes that may carry risk for ASD and underscore the role of cilia in shared ASD and CHD biology.

Lien vers le texte intégral (Open Access ou abonnement)

30. Zhou J, Ning Y. Exploring motherhood dilemmas and coping strategies among mothers of children with autism: a qualitative study in mainland China. Front Psychiatry. 2025; 16: 1569928.

BACKGROUND: Under the traditional division of gender roles in China, mothers often shoulder more responsibilities for caring for children with autism. This article is the first attempt to explore the motherhood practices of mothers of autistic children. METHOD: Through in-depth interviews with eight mothers, revealing three major themes: (1) the mothering dilemmas encountered by mothers of children with autism, (2) why mothers of autistic children choose to stay the course, and (3) the maternal adjustment practices of mothers of children with autism. RESULTS: This study uncovers the challenges encountered during the nascent phases of these mothers’ parenting journeys. However, these mothers showed remarkable resilience and adaptability to these challenges. They also developed various motherhood adjustment strategies to cope with these dilemmas. CONCLUSIONS: The findings emphasize the maternal resilience demonstrated by Chinese mothers of children with autism in the parenting process and the sources of this resilience. They provide new perspectives for understanding this group’s parenting practices, informing related policy development, and supporting service provision.

Lien vers le texte intégral (Open Access ou abonnement)

31. Zhu M, Chen F, Zhang Y, Zhang Z, Guo C. Auditory Global-Local Processing in Autism Spectrum Disorder: A Systematic Review and Meta-Analysis. J Autism Dev Disord. 2025.

Atypical sensory processing has been recognized as a notable characteristic in individuals with autism spectrum disorder (ASD). While visual global-local processing in ASD has been widely studied, understanding of auditory processing across global and local levels remains less defined. To clarify the mixed findings in the literature, we conducted a systematic review with meta-analysis and searched for potential factors that might explain the heterogeneity of previous studies. Our thorough search across four electronic databases up to 2025 identified 25 eligible studies for quantitative synthesis, focusing on comparisons of auditory global-local pitch processing between individuals with ASD and typically developing peers. Our findings indicated that the pooled effect size (Hedges’ g = -0.05) for global pitch processing was not statistically significant, whereas there was a significant, albeit modest, pooled effect size (Hedges’ g = 0.29) for local pitch processing. Significant moderators influencing global pitch processing included the number of answer choices, language typology, and participants’ vocabulary size, while inconsistencies in local pitch processing outcomes were associated with the vocabulary size of autistic participants and variations in task paradigms employed. Overall, this meta-analysis supports the notion that individuals with ASD tend to prefer local pitch processing without apparent deficits in global processing abilities, aligning with the Enhanced Perceptual Functioning model. These findings contribute to our understanding of auditory processing differences in ASD, and offer implications for targeted interventions and further research directions.

Lien vers le texte intégral (Open Access ou abonnement)