1. Bolognesi E, Carta A, Guerini FR, Sotgiu S, Agliardi C, Dettori C, Zanzottera M, Clerici M. Outcome of Sleep Rehabilitation in Autistic Children with Sleep Disorders Is Linked to Melatonin Receptor Genes SNPs. Int J Mol Sci;2025 (May 28);26(11)

A significant proportion of children with Autism spectrum disorder (ASD) experience sleep issues, such as insomnia and other disorders, as assessed by the Sleep Disturbance Scale for Children. Our study investigated the link between six single nucleotide polymorphisms (SNPs) in the melatonin receptor genes MT1 and MT2 and ASD susceptibility, clinical severity and associated sleep problems. A total of 139 ASD children, 82 siblings, and 53 unrelated healthy controls, all of Sardinian ancestry, were studied; among them, 38 children with co-occurring sleep issues were assessed for the outcomes of a rehabilitative program, including behavioral therapy and sleep hygiene. The MT2 rs10830963 G allele is more prevalent in ASD children and their siblings compared to the healthy controls, while rs2119882 (MT1) and rs1562444 (MT2) are associated with DIMS, DA, and SHY. ASD Children carrying the rs2119882 T allele have higher scores for DIMS and DA compared to C allele carriers, and those carrying rs1562444 A allele have higher scores for SHY than G allele carriers. After rehabilitative treatment, homozygous TT carriers of rs2119882 showed less improvement in DIMS symptoms compared to CT and CC carriers. A similar result was observed for AA carriers of SNP rs1562444 about SHY. We may suggest that the MT1 and MT2 variants may serve as useful predictive genetic markers for the severity of sleep disorders in children with ASD, potentially informing the design of more targeted rehabilitative treatments.

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2. Chan RCH, Hung FN. Sexual, Romantic, and Community Experiences of Individuals at the Intersection of Autism and Asexuality. Arch Sex Behav;2025 (Jun 13)

The present study investigated the prevalence of autism among individuals identifying on the asexual spectrum and explored the potential differences in sexual, romantic, and community experiences between autistic and non-autistic individuals on the asexual spectrum. The study included a global sample of 10,419 individuals identifying on the asexual spectrum from the 2020 Ace Community Survey. They completed a questionnaire on asexual identification, romantic relationships, sexual behaviors, and community engagement. The results revealed an autism prevalence rate of 6.9% among individuals on the asexual spectrum, which is higher than the prevalence rate in general populations. Autistic individuals had a stronger identification with their sexual orientation than non-autistic counterparts. They were also more likely to disclose their asexual identity, be in a partnered relationship with others on the asexual or aromantic spectrum, and participate in online LGBTQ communities. The results emphasize the necessity for heightened awareness and understanding of the intersection between autism and asexuality among healthcare professionals, social service providers, and educators. The findings have significant implications for inclusive and affirming sexuality education for individuals on the autism spectrum. Such education is crucial in promoting self-acceptance and empowering them to have greater control over their (a)sexual journeys.

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3. Daniel E, Gulati A, Saxena S, Urgun DA, Bista B. GM-VGG-Net: A Gray Matter-Based Deep Learning Network for Autism Classification. Diagnostics (Basel);2025 (Jun 3);15(11)

Background: Around 1 in 59 individuals is diagnosed with Autism Spectrum Disorder (ASD), according to CDS statistics. Conventionally, ASD has been diagnosed using functional brain regions, regions of interest, or multi-tissue-based training in artificial intelligence models. The objective of the exhibit study is to develop an efficient deep learning network for identifying ASD using structural magnetic resonance imaging (MRI)-based brain scans. Methods: In this work, we developed a VGG-based deep learning network capable of diagnosing autism using whole brain gray matter (GM) tissues. We trained our deep network with 132 MRI T1 images from normal controls and 140 MRI T1 images from ASD patients sourced from the Autism Brain Imaging Data Exchange (ABIDE) dataset. Results: The number of participants in both ASD and normal control (CN) subject groups was not statistically different (p = 0.23). The mean age of the CN subject group was 14.62 years (standard deviation: 4.34), and the ASD group had mean age of 14.89 years (standard deviation: 4.29). Our deep learning model accomplished a training accuracy of 97% and a validation accuracy of 96% over 50 epochs without overfitting. Conclusions: To the best of our knowledge, this is the first study to use GM tissue alone for diagnosing ASD using VGG-Net.

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4. De Domenico C, Alito A, Leonardi G, Pironti E, Di Cara M, Piccolo A, Settimo C, Quartarone A, Gagliano A, Cucinotta F. Children and Adolescents with Co-Occurring Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder: A Systematic Review of Multimodal Interventions. J Clin Med;2025 (Jun 5);14(11)

Background/Objectives: The co-occurrence of Attention-deficit/hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD) is very common and worsens adaptive functioning. This systematic review evaluates both pharmacological and non-pharmacological interventions in this underserved population. Methods: Registered on PROSPERO (CRD42024526157), a systematic search was conducted on PubMed, Embase, and Web of Science until 5 April 2025. The review includes (a) pilot studies and RCTs, (b) participants aged <18 years, (c) diagnoses of ASD and ADHD based on DSM-IV/V or ICD-9/10, (d) at least one group receiving any intervention, and (e) publications in English, Italian, Spanish, or German. Newcastle Ottawa Scale tools for non-randomized studies and the Cochrane Risk of Bias Tools for randomized controlled trials were used to assess studies' quality. Results: A total of 32 studies were included: 87.5% concerning pharmacological treatments. Specifically, methylphenidate (MPH, n = 11), atomoxetine (ATX, n = 11), guanfacina (n = 4), clonidine (n = 1), or atypical antipsychotics (n = 1) were examined. MPH and ATX were most frequently studied, with both showing positive effects in reducing ADHD core symptoms compared to placebo. ATX also reduces stereotyped behaviors and social withdrawal, although more withdrawals due to adverse events (AEs) were reported for ATX than MPH. Four studies (12.5%) examined non-pharmacological interventions, including treatment with virtual reality tools, digital platforms, educational animations, and biomedical protocols; improvements in emotion recognition, behavioral regulation, attention, and social functioning were found. Conclusions: While limited data prevent definitive conclusions, MPH and ATX appear to be relatively safe and effective on hyperactivity-impulsivity symptoms, even in individuals with ASD. Evidence on non-pharmacological treatments is limited, and further studies are needed to better establish their therapeutic potential.

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5. Dell’Osso L, Nardi B, Giovannoni F, Bonelli C, Massimetti G, Cremone IM, Pini S, Carpita B. Orthorexic Tendencies Are Associated with Autistic Traits in Patients with Borderline Personality Disorder. J Clin Med;2025 (Jun 1);14(11)

Background/Objectives: Orthorexia Nervosa (ON), a condition marked by an obsessive focus on eating healthily, has drawn increasing clinical attention due to its rigid dietary patterns and social impairment. Borderline Personality Disorder (BPD), characterized by emotional dysregulation, impulsivity, and unstable interpersonal relationships, frequently co-occurs with eating disorders. Recent research suggests that autistic traits-such as cognitive rigidity and restricted interests-may underlie both ON and BPD, especially in female populations. This study aimed to assess the prevalence of orthorexic tendencies in patients with BPD compared to healthy controls (HCs) and to explore their associations with autistic traits and disordered eating behaviors. Methods: This study involved 73 BPD patients and 52 HCs. Participants completed the Adult Autism Subthreshold (AdAS) Spectrum, Eating Disorder Inventory-2 (EDI-2), and the ORTO-15 questionnaire. Results: BPD patients scored significantly higher than HCs on AdAS Spectrum and EDI-2, and significantly lower on ORTO-15, indicating more pronounced autistic traits, disordered eating behavior, and orthorexic tendencies. A greater proportion of BPD individuals reported clinically relevant ON symptoms according to the ORTO-15 threshold. Orthorexic symptoms were significantly correlated with most EDI-2 and all AdAS Spectrum domains. Regression analysis revealed that autistic traits, but not feeding and eating disorder symptoms, significantly predicted orthorexic tendencies. Conclusions: Orthorexic tendencies are more prevalent in individuals with BPD and are significantly associated with autistic traits. These findings suggest that ON may represent a manifestation of the autism spectrum, particularly in individuals with BPD, and support a reconceptualization of ON within a neurodevelopmental framework. Recommendation: Future research is needed in order to clarify the temporal and causal relationships among autistic traits, BPD symptomatology, and the emergence of orthorexic behaviors.

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6. Di Cara M, La Fauci M, Tresoldi M, Caputo MR, Borzelli D, Maggio R, Campestre C, Barbera A, Piccolo A, De Domenico C, Di Blasi M, Calabrò RS, Tripodi E, Impallomeni C, Cucinotta F. Enhancing Communication in Minimally Verbal Autistic Children: A Study on NAO-Assisted Therapy. J Clin Med;2025 (May 26);14(11)

Background/Objectives: Minimally verbal autistic children face significant communication challenges, often unmet by traditional therapies. Social robots, like NAO, offer predictable, structured interactions that may improve engagement and language skills. This study aimed to evaluate the effectiveness of NAO-assisted therapy in improving communication and social interaction in minimally verbal autistic children compared to standard therapeutic approaches. Methods: In a single-blind, randomized, controlled study, 37 autistic children aged 4-12 years were assigned to either NAO-assisted therapy or standard speech therapy. Participants were assigned to either an NAO-assisted therapy group or a standard speech therapy control group. The intervention included 12 weekly 45 min sessions. Communication outcomes were measured using the Language Development Level Test (TVL) and mand request observations. Results: All 37 participants completed the 12 sessions without adverse events, highlighting the intervention’s feasibility and safety. Children in the NAO-assisted therapy group showed greater improvements in verbal communication (on average, 159 ± 49% more children exhibited improvement across verbal aspects (range: 107-284%; p < 0.001)) particularly in spontaneous communication, compared to the control group. The therapy also increased mand production (from 6.8 ± 4.3 in session 1 to 16.7 ± 7.7 in session 12; p < 0.001; average gain: 0.9 per session), demonstrating steady growth in communicative initiative. These findings underscore the structured and engaging nature of NAO-assisted therapy in supporting consistent progress in communication skills. Conclusions: NAO-assisted therapy is a promising, safe, and effective intervention for enhancing communication in minimally verbal autistic children, offering unique benefits in promoting spontaneous and consistent verbal engagement.

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7. DiStefano N, Cooper JN, Elisha DH, Zalta M, Mittal J, Cohen D, Monterrubio A, Hossain R, Sangadi A, Mittal R, Eshraghi AA. Decoding SCN2A Variants: Bridging Genetics and Phenotypes in Autism Spectrum Disorder. J Clin Med;2025 (May 28);14(11)

Background: Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a rising prevalence, driven by multifactorial genetic and environmental factors. Among the genetic contributors identified, SCN2A, a critical gene encoding the Nav1.2 sodium channel, has been implicated in ASD and other related neurological conditions. This systematic review aims to explore the relationship between SCN2A mutations and ASD phenotypes. Methods: This review systematically analyzed data from studies reporting SCN2A mutations in individuals diagnosed with ASD. The primary focus was on the characterization of mutation types, associated clinical features, and phenotypic variability. Results: The mutations identified were predominantly de novo missense mutations and were associated with a spectrum of neurological and developmental challenges, including seizures, intellectual disability, movement disorders, and repetitive behaviors. A notable finding was the significant phenotypic variability observed across individuals. Gender differences emerged, suggesting a potentially greater impact on females compared to trends typically seen in ASD genetic studies. Specific mutations, such as c.2919+4delT, and mosaicism were identified as novel contributors to the observed heterogeneity. Conclusions: The review highlights the clinical significance of SCN2A mutations in ASD and highlights their relevance in genetic counseling and the development of targeted therapies. Understanding the diverse genotype-phenotype correlations associated with SCN2A can drive progress in personalized medicine, paving the way for precision therapies tailored to individuals with SCN2A-related ASD.

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8. Giblon R, Mahar A, Hallet J, Kelly C, Coburn N, Shooshtari S, Sutradhar R. Intellectual and developmental disabilities (IDD) and cancer symptom reporting: a matched retrospective cohort study. Support Care Cancer;2025 (Jun 12);33(7):571.

PURPOSE: Symptom assessment is key to managing symptom burden following a cancer diagnosis. Adults with intellectual or developmental disabilities (IDD) experience worse outcomes from cancer; disparities may also exist in routine cancer symptom screening. This study investigated whether differences exist in routine cancer symptom assessment between people with and without IDD in a public healthcare system. METHODS: We conducted a matched retrospective cohort study of adults in Ontario, Canada, with and without IDD who received a cancer diagnosis between 2010 and 2019 using administrative health data. Among people with cancer, those with IDD were hard-matched 1:5 to those without IDD on age at diagnosis, sex, diagnosis year, cancer type and regional cancer centre registration. Cumulative incidence of first symptom assessment accounting for death as a competing risk was estimated. Sub-distribution and cause-specific hazards models were used. Effect modification by age, sex and cancer stage was investigated. RESULTS: A total of 1545 people with IDD were matched to 7725 people without IDD. Individuals with IDD experienced a lower incidence of cancer symptom assessment (1-year probability: 0.62 vs. 0.77) and lower rates of symptom assessment (sub-distribution HR: 0.63, 95% CI: 0.59, 0.67; cause-specific HR: 0.69, 95% CI: 0.65, 0.73) relative to those without IDD. Results were most pronounced for those in advanced cancer stages. CONCLUSION: Among persons with cancer, the incidence of symptom assessment is lower for individuals with IDD compared to those without; the magnitude of these findings varied across cancer stages. These findings may indicate systemic barriers to equitable healthcare access for people with cancer and IDD.

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9. Grineski SE, Ramos K, Renteria R, Collins TW, VanDerslice J, Bilder D, Bakian A. Multigenerational exposures to polluting industries and developmental disabilities. Sci Total Environ;2025 (Jun 13);989:179888.

Animal models suggest that environmental exposures can impact future generations of offspring. Yet, there are limited human epidemiological studies of multigenerational environmental exposures, and even fewer such studies of maternal and paternal exposures. Leveraging a unique data resource in Utah (USA), we examine if offspring (F2, n = 6380) are at increased risk of intellectual disability (ID) if the mother or father (F1) were exposed to polluting industrial facilities while their own mothers (F0) were pregnant. We obtained historical data on polluting industry locations and calculated facility densities within 3 km and 5 km of each child’s (F2) grandmothers’ (F0) residential addresses at time of their mothers’ and fathers’ (F1) births as well as their mother’s address at the time of their birth. We weighted those counts by pairing industry codes with national Risk-Screening Environmental Indicators health risk scores. One standard deviation (SD) increase in the density of facilities near the pregnant maternal grandmother was associated with 1.12 (1.03-1.22) and 1.09 (1.003-1.19) times greater odds of ID at 3 km and 5 km, respectively. Weighing these facility densities by risk, odds ratios associated with SD increases were 1.12 (1.04-1.20, 3 km) and 1.08 (1.003-1.17, 5 km). Associations with facility densities near the pregnant paternal grandmother were positive but weak. Associations with risk-weighted facility density near the pregnant paternal grandmother were stronger at 5 km (1.12, 1.02-1.22) than at 3 km. Results indicated that ancestral exposures, particularly when the maternal grandmother (F0) was pregnant with the mother (F1), may increase risks of developmental disabilities in the next generation (F2).

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10. Hickman LJ, Cook JL. High rates of Parkinson’s Disease diagnosis in the autistic population: true co-occurrence or a product of overlapping traits?. Neurosci Biobehav Rev;2025 (Jun 13):106261.

Older autistic adult literature is sparse, and little is known about the aging autistic population. However, recent evidence suggests an increased prevalence of Parkinson’s Disease (PD) diagnosis in the autistic population. It may initially be assumed that autistic individuals are genetically more likely to develop PD, but extant genetic studies do not provide strong evidence for a link between the two conditions. An underappreciated body of evidence may shed light upon why autistic individuals score highly on PD diagnostic criteria: movement differences in autism have been likened to PD. Given that PD diagnosis is primarily movement-based, if it is the case that autistic movement appears parkinsonian, this may facilitate autistic individuals meeting diagnostic criteria for PD. If validated, this theory could have serious implications for the specificity of the PD diagnostic process. Here, we set out the evidence for high rates of PD diagnosis and parkinsonism in the autistic population and subsequently questions why this might be the case, making reference to genetic and behavioural similarities between autism and PD.

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11. Kadiyska T, Vassilev D, Tourtourikov I, Ciurinskiene S, Madzharova D, Savcheva M, Stoynev N, Mileva-Popova R, Tafradjiiska-Hadjiolova R, Mitev V. Age-Dependent Gut Microbiome Dysbiosis in Autism Spectrum Disorder and the Role of Key Bacterial Ratios. Nutrients;2025 (May 23);17(11)

Background/Objectives: Autism spectrum disorder (ASD) has a wide-ranging impact on individuals’ quality of life and development, and there is a critical need for greater awareness, early intervention, and comprehensive support strategies to effectively address the unique needs of those affected by ASD. Recent studies highlight the gut microbiome’s potential role in modulating ASD symptoms via the gut-brain axis, but specific microbial biomarkers remain unclear. This study aims to investigate differences in gut microbiota composition between ASD patients and neurotypical controls in a novel approach, specifically assessing ratios of Firmicutes/Bacteroidetes (F/B), Actinobacteria/Proteobacteria (A/P), and Prevotella/Bacteroides (P/B) as potential biomarkers. Methods: We analyzed gut microbiome samples from 302 Bulgarian children and adolescents diagnosed with ASD (aged 2-19 years). Microbial ratios (F/B, A/P, and P/B) were calculated and compared against previously reported reference meta-analytic means from European neurotypical populations. The statistical significance of deviations was assessed using parametric (t-tests), non-parametric (Wilcoxon signed-rank tests), and proportion-based (binomial tests) methods. Effect sizes were quantified using Cohen’s d. Significant differences between ASD cases and neurotypical reference values were observed across several age groups. Results: Notably, children with ASD demonstrated significantly lower F/B and A/P ratios, with the youngest cohort (0-4 years) exhibiting the greatest differences. Deviations in the P/B ratio varied across age groups, with a significant elevation in the oldest group (≥10 years). Collectively, ASD cases consistently exhibited microbiota profiles indicative of dysbiosis. Conclusions: Our findings support gut microbiome dysbiosis as a potential biomarker for ASD, highlighting significantly altered bacterial ratios compared to neurotypical controls. These microbiome shifts could reflect early-life disruptions influencing neurodevelopment. Future studies should adopt longitudinal and mechanistic approaches to elucidate causal relationships and evaluate therapeutic microbiome modulation strategies.

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12. Miranda Gálvez AL, Pacheco-Unguetti AP. The Impact of the COVID-19 Pandemic on Young Adults with Autism Spectrum Disorder: A Systematic Review. Healthcare (Basel);2025 (May 22);13(11)

BACKGROUND/OBJECTIVES: The COVID-19 pandemic and related public health measures significantly disrupted daily life, with profound consequences for individuals with Autism Spectrum Disorder (ASD). Young adults with ASD faced unique challenges due to disruptions in routines, employment instability, limited access to essential services, and increased social isolation. While some individuals benefited from reduced social pressures and the adoption of remote work, many experienced heightened anxiety, behavioral difficulties, and declines in autonomy. This systematic review examines the impact of the pandemic on young adults with ASD, focusing on key domains such as autonomy, employment, service accessibility, socialization, emotional regulation, and overall well-being. METHODS: This review followed the PRISMA 2020 guidelines, and its protocol was pre-registered in the PROSPERO database. A search was conducted in four databases-PubMed, Scous, Web of Science, and PsycInfo-as well as in specialized journals in the field. RESULTS: Eight studies met the inclusion criteria and were included in the final synthesis. The findings highlight significant disruptions in daily life, increased dependence on caregivers, and difficulties in maintaining structured activities. However, technology-assisted interventions, including virtual therapies and remote work opportunities, played a role in mitigating some adverse effects. CONCLUSIONS: Despite the heterogeneity in methodologies, this review underscores the urgent need for targeted interventions to support young adults with ASD during crises. Future research should focus on long-term consequences and developing inclusive policies that enhance resilience, access to services, and social integration.

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13. Nisar A, Thompson PA, Boer H, Al-Delfi H, Langdon PE. Specialist Psychiatric Bed Utilisation by People With Intellectual Disabilities and Autistic People: A Time-Series Analysis Using the English Assuring Transformation Dataset. J Intellect Disabil Res;2025 (Jun 12)

BACKGROUND: Using nationally available anonymised and aggregated English data, we examined specialist and nonspecialist psychiatric bed utilisation by people with intellectual disabilities and/or autism. METHODS: Using data about specialist psychiatric bed utilisation from the Assuring Transformation Dataset, from March 2015 to January 2024, we applied linear regression (with moving average or autoregressive errors) to explore the relationships between a set of outcome variables (e.g., number of inpatients and length of stay) and a set of sociodemographic, clinical and service-related predictor variables (e.g., age, ethnicity, admission source, legal status, admission source, discharge destination, Care (Education) and Treatment Reviews) over time. Comparisons were made with data from the Mental Health Services Data Set about nonspecialist psychiatric bed utilisation. RESULTS: Over time, there was an average reduction of 8.07 inpatients per month. This reduction was due to a reduction in the number with a length of stay longer than 2 years, and fewer inpatients with intellectual disabilities without autism over time, rather than fewer autistic inpatients without intellectual disabilities; instead, the number of autistic inpatients increased by 6.02 per month. However, overall, there were fewer inpatients in specialist psychiatric beds than in nonspecialist beds by an average of 877 patients, and the number in specialist beds reduced faster than the number in nonspecialist beds over time. We found that more hospital spells were associated with more inpatients older than 18, more detentions under Part III of the Mental Health Act, more inpatients not known to the local authority, and an increased number of White inpatients. More admissions were associated with fewer discharges, while those with a hospital stay longer than 2 years were less likely to have had a postadmission Care (Education) and Treatment Reviews and were more likely to use advocacy. CONCLUSIONS: The number of inpatients with intellectual disabilities in specialist psychiatric beds continues to decline over time, while the number of autistic inpatients without intellectual disabilities is increasing. Future research should utilise participant-level data to explore patient long-term trajectories.

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14. Nomura J, Zuko A, Kishimoto K, Mutsumine H, Maegawa H, Fukatsu K, Nomura Y, Liu X, Nakai N, Takahashi E, Kouno T, Shin JW, Takumi T. ESC models of autism with copy-number variations reveal cell-type-specific translational vulnerability. Cell Genom;2025 (Jun 11);5(6):100877.

Human genetics has identified numerous copy-number variations (CNVs) associated with autism spectrum disorders (ASDs). However, the lack of standardized biological resources impedes understanding of the cell-type-specific common features of ASD. Here, we establish a biological resource including 63 genetically modified mouse embryonic stem cell (ESC) lines as genetic models of ASD. We perform neural differentiation using 12 representative cell lines, and their comprehensive analyses, including single-cell RNA sequencing, uncover cell-type-specific susceptible pathways. Moreover, we find that a common phenotype in glutamatergic and GABAergic neurons is reduced expression of Upf3b, a core member of the translational termination and nonsense-mediated decay (NMD). This finding emphasizes that the dysfunction of translational machinery in the developing neurons can be a possible target of early intervention for ASD. This ESC model bank becomes an invaluable resource for studies in vitro and in vivo of ASD or other neuropsychiatric disorders.

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15. 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 (Jun 13);6(6):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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16. Plank IS, Tepest R, Vogeley K, Falter-Wagner CM. The influence of interpersonal synchrony and autism on impressions of dyadic interactions: a preregistered study. Mol Autism;2025 (Jun 12);16(1):34.

BACKGROUND: Humans form almost instantaneous impressions of everyone they encounter. These impressions set the first tone for how they approach and interact with others. Research on impression formation unveiled that impressions formed by autistic and non-autistic people are often less favourable when rating an autistic person. This effect is partly explainable by differences in motion dynamics. METHODS: In this preregistered study, we systematically assessed impressions formed by 27 autistic and 36 non-autistic comparison observers when watching videos showing silent interactions between either two non-autistic or between an autistic and a non-autistic person. We used an eye tracker to capture their gaze patterns while observing these interactions. Of each dyadic interaction, video vignettes with high and vignettes with low interpersonal synchrony of movement (IPS(mov)) were extracted using Motion Energy Analysis so that we could investigate the effects of interpersonal synchrony and diagnosis, respectively. RESULTS: Interactions were rated less favourably when the observed dyad included an autistic adult. Additionally, interactions showing low IPS(mov) were rated less favourably than interactions showing high IPS(mov), regardless of dyad type. Both autistic and comparison observers rated interactions of non-autistic dyads and high IPS(mov) interactions more favourably. Gaze patterns revealed differences between autistic and comparison observers, but no differences due to IPS(mov) or dyad type. Furthermore, dwell times to hands predicted ratings. LIMITATIONS: In this study, we investigated specific influences on impression formation, specifically interpersonal synchrony of movement and autism. There are many more potentially interesting aspects of individuals that impact impression formation, such as facial expressiveness, gaze behaviour and linguistic content of conversations, which should be investigated systematically and in a controlled fashion in future research. CONCLUSIONS: Extending research on autism and impression formation to dyadic interactions, this study reveals that motion dynamics play a role in how pleasant interactions are perceived. Autistic-involved interactions were rated lower, despite observers being unaware of the dyad type and only watching people’s outlines. Future research should identify conversational aspects driving lower ratings of mixed dyads, potentially considering the effect of hand dwell times on ratings. Autistic and comparison observers showed different gaze patterns despite similar ratings, confirming distinct social information processing.

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17. Shimizu Y, Yoshida T, Ito K, Terada K, Sasaki N, Honda E, Motomura K. Solitude, connection with society, low quality of life in relation to autism spectrum disorder. Int J Soc Psychiatry;2025 (Jun 12):207640251345030.

BACKGROUND: Social communication and interaction deficits are characteristics of autism spectrum disorder (ASD). However, no study reported the association between living alone and quality of life (QOL) in participants with ASD. AIMS: To evaluate the association among solitude, connection with society, low quality of life, and ASD. METHODS: We conducted a web survey-based cross-sectional study of 3,865 Japanese participants with ASD living alone and may not view a connection to society as important. Participants were asked to choose three answers from 13 items for the question, ‘What do you think is the most important matter to elevate your quality of life (QOL)?’ If participants answered ‘connection with society’, we defined it as ‘thinking connection with society is important’. RESULTS: Living alone was inversely connected with the Life Satisfaction Scale scores for participants with and without ASD. The adjusted odds ratios (ORs) (95% confidence intervals [CIs]) of living alone on the life satisfaction scale (one standard deviation) for those without and with ASD were 0.78 (0.72, 0.85) and 0.74 (0.58, 0.95), respectively. However, the association between living alone and ‘thinking connection with society is important’ is positive for those without ASD but inverse for those with ASD. The adjusted ORs (95% CIs) for patients without and with ASD were 1.25 (1.03, 1.53) and 0.28 (0.11, 0.70), respectively. CONCLUSION: Living alone might strengthen the ‘thinking connection with society is important’ for participants without ASD but weaken it for those with ASD.

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18. Sigurdardottir KR, Hannesdottir DK, Hauksdottir B, Ollendick TH, Davidsdottir K, Halldorsdottir T. Incidence, co-occurring psychiatric conditions, and sex differences in young people without intellectual impairment who are autistic, ADHD, or autistic-ADHD: a population-based cross-sectional study in Iceland. Lancet Child Adolesc Health;2025 (Jul);9(7):459-469.

BACKGROUND: Population-based studies comparing the incidence and co-occurring psychiatric conditions of young people without intellectual impairment who are autistic, Attention-Deficit/Hyperactivity Disorder (ADHD), or autistic-ADHD are scarce. For autistic, ADHD, and autistic-ADHD youth in Iceland aged 7-18 years without intellectual impairment, we aimed primarily to estimate the age-standardised incidence of these 3 neurotypes, overall and by sex, and secondarily to estimate the prevalence of co-occurring psychiatric conditions and emotional and conduct challenges. METHODS: In this nationwide, population-based cross-sectional study we included young people without intellectual impairment aged 7-18 years who were autistic, ADHD, or autistic-ADHD. Children were referred to the Centre for Child Development and Behaviour in Reykjavik, Iceland, through a structured pre-assessment process during which caregivers completed a validated screening battery on the child’s behavioural, emotional, and developmental characteristics. Trained clinicians administered gold-standard clinical assessment procedures to assess autism, ADHD, and co-occurring psychiatric presentations. Caregiver-reported and teacher-reported emotional and conduct challenges were measured with the Strengths and Difficulties Questionnaire. ICD-10 condition classification was determined during consensus meetings with clinical psychologists and a paediatrician. Age-standardised prevalence and incidence rates were calculated. FINDINGS: Between Feb 11, 2013, and Dec 20, 2021, 2034 children age 7-18 years without intellectual impairment (728 females and 1306 males; mean age 10·93 [SD 2·82]) were recognised as autistic (n=229), ADHD (n=1428), or autistic-ADHD (n=377) in Iceland. Age-standardised incidence rates were 126 per 100 000 person-years (95% CI 116-137) for all autistic young people (ie, autistic and autistic-ADHD) and 374 per 100 000 person-years (357-392) for all young people with ADHD (ie, ADHD and autistic-ADHD). By neurotype groups, the incidence per 100 000 person-years was 48 (95% CI 42-54) for autism, 78 (71-87) for autism-ADHD, and 295 (280-311) for ADHD. Incidence was lower in females than males for all three neurotypes: incidence rate ratio 0·53 (95% CI 0·40-0·69) for autistic young people, 0·43 (0·35-0·54) for autistic-ADHD young people, and 0·64 (0·57-0·71) for ADHD young people. INTERPRETATION: This study provides robust, population-based estimates of the incidence of autistic, ADHD, and autistic-ADHD young people without intellectual impairment. The higher incidence of autistic-ADHD young people compared with autistic alone underscores the common co-occurrence of ADHD in autistic young people-a pattern that might have been underrepresented in previous literature. FUNDING: None. TRANSLATION: For the Icelandic translation of the abstract see Supplementary Materials section.

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19. Singh J, Santosh P. Molecular Insights into Neurological Regression with a Focus on Rett Syndrome-A Narrative Review. Int J Mol Sci;2025 (Jun 3);26(11)

Rett syndrome (RTT) is a multisystem neurological disorder. Pathogenic changes in the MECP2 gene that codes for methyl-CpG-binding protein 2 (MeCP2) in RTT lead to a loss of previously established motor and cognitive skills. Unravelling the mechanisms of neurological regression in RTT is complex, due to multiple components of the neural epigenome being affected. Most evidence has primarily focused on deciphering the complexity of transcriptional machinery at the molecular level. Little attention has been paid to how epigenetic changes across the neural epigenome in RTT lead to neurological regression. In this narrative review, we examine how pathogenic changes in MECP2 can disrupt the balance of the RTT neural epigenome and lead to neurological regression. Environmental and genetic factors can disturb the balance of the neural epigenome in RTT, modifying the onset of neurological regression. Methylation changes across the RTT neural epigenome and the consequent genotoxic stress cause neurons to regress into a senescent state. These changes influence the brain as it matures and lead to the emergence of specific symptoms at different developmental periods. Future work could focus on epidrugs or epi-editing approaches that may theoretically help to restore the epigenetic imbalance and thereby minimise the impact of genotoxic stress on the RTT neural epigenome.

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20. Violland P, Gagliardi A. [Autistic burnout: concrete elements to understand it]. Rev Med Suisse;2025 (Jun 11);21(922):1248-1251.

Autistic burnout, despite being widely discussed within the autistic community, only starts to draw attention in academic research. Nonetheless, there remains no doubt on the consequences of the autistic burnout on health, quality of life or ability to lead an independent life, given the wide variety of testimonials and the initial analyses. This article summarizes the available knowledge about this phenomenon, its description, its effects and the known therapeutic options. It also highlights how important the role of practitioners may be towards a finer understanding and a wider recognition of autistic burnout.

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21. Yadav A, Tadas M, Kale M, Wankhede N, Umekar M, Kotagale N, Taksande B. Gut Microbiota and Behavioral Ontogeny in Autism Spectrum Disorder: A Pathway to Therapeutic Innovations. Physiol Behav;2025 (Jun 10):114989.

Autism Spectrum Disorder (ASD) is a multifaceted neurodevelopmental condition characterized by deficits in social communication, repetitive behaviors, and restricted interests. Emerging evidence suggests that gut-brain axis a dynamic, bidirectional communication network between gut microbiota and central nervous system, is critical in shaping behavioral ontogeny in ASD. Dysbiosis of gut microbiota, commonly observed in individuals with ASD, has been associated with alterations in neurodevelopmental trajectories and symptom severity. Furthermore, disturbances in maternal microbiome during pregnancy are increasingly recognized as key factors influencing fetal brain development, potentially heightening risk of ASD and behavioral manifestations. Mechanistic research reveals that gut-derived metabolites modulate blood-brain barrier integrity, neuroinflammatory processes, and neuronal circuit formation, contributing to behavioral outcomes. These findings emphasize gut microbiota’s profound influence on emergence and progression of ASD-related behaviors. Promising therapeutic strategies, including probiotics, prebiotics, fecal microbiota transplantation, and dietary interventions, have demonstrated potential in modulating the gut microbiome and improving behavioral symptoms in ASD. However, challenges such as individual variability in microbiome composition, limited clinical evidence, and an incomplete understanding of causative mechanisms remain significant barriers to clinical translation. This review explores the interplay between gut microbiota and ASD-associated behaviors, focusing on key mechanisms such as microbial regulation of neurotransmitter production, immune signaling, and neuroinflammation. It further highlights gut microbiota’s potential as a modifiable factor influencing neurodevelopmental and behavioral outcomes in ASD. By advancing our understanding of gut-brain axis, we can pave the way for personalized and targeted interventions aimed at improving behavioral ontogeny and developmental trajectories in individuals with ASD.

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22. Ying J, Xu X, Zhou R, Chung ACK, Ng SK, Fan X, Subramaniam M, Wong SH. The Gut Microbiota in Young Adults with High-Functioning Autism Spectrum Disorder and Its Performance as Diagnostic Biomarkers. Nutrients;2025 (May 22);17(11)

Background/Objectives: Diagnosing ASD in adults presents unique challenges, and there are currently no specific biomarkers for this condition. Most existing studies on the gut microbiota in ASD are conducted in children; however, the composition of the gut microbiota in children differs significantly from that of adults. This study aimed to study the gut microbiota of young adults with high-functioning ASD. Methods: Using metagenomic sequencing, we evaluated the gut microbiota in 45 adults with high-functioning ASD and 45 matched healthy controls. Results: Adjusting for sociodemographic information, dietary habits, and clinical data, we observed a distinct microbiota profile of adults with ASD in comparison to controls, with the intensity of autistic traits strongly correlating to microbial diversity (correlation coefficient = -0.351, p-value < 0.001). Despite a similar dietary pattern, the ASD group exhibited more gastrointestinal symptoms than the healthy controls. An internally validated machine-learning predictive model that combines the Autism Spectrum Quotient questionnaire score of individuals with their microbial features could achieve an area under the receiver operating characteristic curve (AUC) of 0.955 in diagnosing ASD in adults. Conclusions: This study evaluates the gut microbiota in adult ASD and highlights its potential as a non-invasive biomarker to enhance the diagnosis of ASD in this population group.

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23. Zhao W, Liu X, Sampalli S. Editorial: Usable and effective digital health for autism care and treatment. Front Psychiatry;2025;16:1612647.

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