1. Anderson LL, Pettingell SL, Bershadsky J, Hewitt A. The Impact of COVID-19 on Direct Support Professionals and Frontline Supervisors Mental and Physical Health. Intellect Dev Disabil. 2025; 63(3): 244-55.

Direct support professionals (DSPs) and frontline supervisors (FLSs) play a crucial role in the delivery of home and community-based services for people with intellectual and developmental disabilities (IDD). A four-wave study was launched to understand the experiences of DSPs and FLSs during the COVID-19 pandemic. In the last wave, 2,584 participants responded to questions about mental and physical health issues they experienced. FLSs and DSPs differed in their experiences during the COVID-19 pandemic. Differences included the effect on their daily work, how they viewed the quality of their work life, and whether their employer provided support for staff experiencing adverse mental and physical health outcomes. Policy recommendations to address the mental and physical health of DSPs and FLSs are provided.

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2. Balcerzyk-Matić A, Iwanicki T, Jarosz A, Nowak T, Emich-Widera E, Kazek B, Kapinos-Gorczyca A, Kapinos M, Iwanicka J, Gawron K, Likus W, Niemiec P. Analysis of the DYNC1H1 Gene Polymorphic Variants’ Association with ASD Occurrence and Clinical Phenotype of Affected Children. Genes (Basel). 2025; 16(5).

OBJECTIVES: To analyze potential associations between three polymorphisms (rs3818188, rs941793, rs2403015) of the DYNC1H1 gene and the occurrence of autism spectrum disorder as well as the clinical phenotype of affected individuals. METHODS: This family-based study included 206 children diagnosed with ASD and 364 of their biological parents. To examine the potential association between three polymorphisms of the DYNC1H1 gene and ASD occurrence, a transmission disequilibrium test was performed. Additionally, associations between the studied polymorphisms and the clinical phenotype of affected individuals were analyzed using the χ(2) test. RESULTS: None of the polymorphisms studied showed an association with ASD in the overall patient group. However, an association between the rs3818188 polymorphic variant and ASD was observed in a subgroup of girls, with the G allele being transmitted more than 2.5 times as frequently as the A allele. Moreover, several associations between the tested variants and features related to neuromotor development, communication, and social skills were observed in univariate analysis. However, after correction for multiple comparisons, only the association between the rs2403015 polymorphism and transient increase in muscle tone during infancy remained statistically significant. CONCLUSIONS: This study demonstrated an association between the rs3818188 polymorphism and ASD in a subgroup of girls. Additionally, the rs2403015 polymorphism was found to be associated with transient increase in muscle tone during infancy.

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3. Belluzzo M, Giaquinto V, Volpe D, Esposito C, De Alfieri E, Amodeo AL. Navigating Body Perception, Affectivity, Intimacy, Gender Identity, and Sexuality: An Exploratory Qualitative Study in Young Adults with SMI, IDs, and ASD in a Community Setting. Int J Environ Res Public Health. 2025; 22(5).

This exploratory qualitative study investigates the challenges faced by young adults (aged 18-40) with severe mental illness (SMI), intellectual disabilities (IDs), and autism spectrum disorder (ASD) in navigating body perception, affectivity, intimacy, gender identity, and sexuality. Through semi-structured interviews with 13 participants recruited from a community habilitation center, thematic analysis revealed systemic barriers rooted in societal stigma, familial overprotection, and institutional neglect. Key findings highlight tensions between bodily autonomy and familial control, with prolonged caregiver dependency in intimate hygiene reflecting patterns of infantilization. We found that participants’ self-image was shaped by gendered expectations and familial critiques, reinforcing internalized stigma. Romantic relationships were often idealized through cultural narratives, yet lacked practical guidance on consent or boundaries, exacerbating vulnerabilities. Fragmented sexual education left individuals reliant on pornography or peers, perpetuating misconceptions and anxiety. Despite these barriers, participants demonstrated resilience and agency in advocating for inclusive interventions. This study underscores the urgent need for trauma-informed, rights-based approaches that prioritize autonomy, dignity, and intersectionality. Recommendations include structured skill-building programs for independence, disability-adapted comprehensive sexuality education, and systemic reforms fostering interdisciplinary collaboration. By centering lived experiences, this work challenges structural inequities and advocates for community care models that honor the diverse needs of individuals navigating the intersection of disability, identity, and sexuality.

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4. Best M, Burke MM, Arnold CK. Examining Support Networks Among Individuals With Intellectual and Developmental Disabilities. Intellect Dev Disabil. 2025; 63(3): 216-29.

Understanding the support networks of individuals with intellectual and developmental disabilities (IDD) is important given that adults with IDD are outliving their parents-i.e., their primary caregivers. We surveyed 601 adult siblings of individuals with IDD to identify: Who provides caregiving support to adults with IDD? Do the types of caregiving support vary in relation to the support network role? To what extent do individual, sibling, and family characteristics correlate with the size of the support network? On average, individuals with IDD possessed small support networks, with most support networks comprised of family members (primarily parents). Individuals with Down syndrome (versus autism) reported larger support networks. Implications for research, practice, and policy are discussed.

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5. Bődi CB, Ortega DP, Walsh K, Bright MA. Community-Based Victimization Prevention Education for Children and Youth With Intellectual and Developmental Disabilities: A Scoping Review. Child Maltreat. 2025: 10775595251345432.

Children and youth with intellectual and developmental disabilities (IDD) face a high risk of victimization (including child abuse, neglect, bullying), yet prevention strategies for this population remain underrepresented and under-evaluated. This scoping review analyzes ten community-based victimization prevention programs for youth with IDD (ages 10-25) across North America, the Middle East, Europe, and Australia. Programs varied in structure, content, and teaching strategies, with all delivered over multiple sessions and most including evaluations of learning outcomes or implementation quality. However, none were adapted on a broad scale across multiple settings, populations, or geographic regions or addressed multiple forms of victimization. Given the effectiveness of prevention education in related fields, rigorous evaluation and tailored, evidence-based approaches are needed to enhance their impact. This review highlights existing programs, their methodologies, and the available evidence on their effectiveness, identifying key areas for future research and development in victimization prevention for children and youth with IDD.

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6. Boynton C, Ousley O, Factor RS. Item Analysis of an Early Social Responsiveness Scale for Assessing Autism Risk. Behav Sci (Basel). 2025; 15(5).

Early diagnosis of autism spectrum disorder (ASD) is vital for effective intervention and improves social and behavioral development. The previous literature has shown that the Early Social Responsiveness (ESR) assessment is effective at detecting ASD risk in individuals as early as 13 months of age (« parent study »). However, an item analysis that examines individual item scores has not been conducted to further elucidate the strength of this assessment. In this study, we analyzed an existing dataset (collected in the parent study) containing individual item responses from the ESR assessment of 120 children (n = 61 males and n = 59 females; age range = 15-24 months). Through item analysis, we determined which ESR items or item sets are best at differentiating ASD risk from non-ASD risk. Ease of social engagement (i.e., questions assessing the administrator’s perceived level of effort in engaging the child) was the most effective risk indicator, with the hat and tickle activities being least effective at indicating ASD risk. These results could contribute to optimizing the scale and facilitating its clinical adoption.

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7. Carpita B, Nardi B, Pronestì C, Cerofolini G, Filidei M, Bonelli C, Massimetti G, Cremone IM, Pini S, Dell’Osso L. The Mediating Role of Social Camouflaging on the Relationship Between Autistic Traits and Orthorexic Symptoms. Brain Sci. 2025; 15(5).

Background/Objectives: Recent lifestyle and dietary changes, driven by health awareness and ecological concerns, have led to the rise in numerous type of diets, which can promote well-being but may also contribute to Orthorexia Nervosa (ON), which have been suggested to be linked to autism spectrum disorder. This study aimed to explore the relationship between autistic traits, social camouflaging, and orthorexic tendencies in female university students, focusing on how these factors intersect with specific dietary habits. Methods: 554 female students were recruited via an online survey and assessed with the Adult Autism Subthreshold (AdAS) Spectrum, the Camouflaging Autistic Traits Questionnaire (CAT-Q), and the ORTO-R. Participants were categorized into four groups based on AdAS Spectrum and CAT-Q quartiles. Results: Vegans and vegetarians exhibited higher orthorexic tendencies and specific autistic traits. High scorers on the AdAS Spectrum and CAT-Q also showed higher ORTO-R scores, with both AdAS Spectrum and CAT-Q total scores, as well as certain domains, serving as significant positive predictors of higher ORTO-R scores. Notably, the AdAS Spectrum total score had a significant direct and indirect effect (through the CAT-Q) on the ORTO-R total score. Conclusions: The study found significant associations between autistic traits, social camouflaging behaviors, and orthorexic tendencies in female university students. These findings suggest that the strict dietary behaviors and rigid thinking characteristic of orthorexia may be influenced by underlying autistic features, highlighting the need for further research into the intersection of autism and eating disorders.

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8. Criss SD, Fajardo M, Lee SW, Dubon M, May CJ. The Healthcare Experience of Autistic Patients in Orthopaedic Surgery: A Survey Study of Autistic Patients’ Parents, Caregivers, and Orthopaedic Providers. J Pediatr Soc North Am. 2025; 10: 100138.

BACKGROUND: Autistic patients can have different communication and sensory needs, potentially making orthopaedic visits stressful. This study evaluated which factors play the greatest role in autistic patients’ comfort and overall experience in orthopaedic settings by surveying the parents, caregivers, and orthopaedic providers of these patients. METHODS: We developed two online surveys focused on the experience of autistic patients in orthopaedic settings: one for parents/caregivers and another for orthopaedic surgeons. Parents/caregivers of patients under 26 years of age with a diagnosis of autism spectrum disorder (ASD) and an orthopaedic visit at a single pediatric institution between 2017 and 2022 were eligible. The provider survey was sent via email to members of the Pediatric Orthopaedic Society of North America (POSNA). RESULTS: Parent/caregiver survey: In total, 83 parents/caregivers (mean patient age: 12, 77% male) provided complete responses. The most anxiety-provoking situations included blood draws (49% of patients beyond neutral anxiety level), loud/unfamiliar noises (42%), getting imaging (38%), casting (35%), and cast removal (34%). Parents/caregivers noted that purposeful eye contact, explanations in advance, and use of technology helped improve patient comfort.Provider survey: In total, 61 orthopaedic surgeons responded. The majority of providers reported being aware of an ASD diagnosis in their patients some (48%) or most (40%) of the time. Situations that make autistic patients more anxious/uncomfortable than nonautistic patients included cast removal (80% of respondents), loud/unexpected sounds (77%), imaging (70%), and the physical exam (62%). The most common accommodations in place included child life specialists (53%) and ear plugs/headphones (51%); 18% reported no accommodations. Most providers changed their approach to visits with autistic patients, including discussions with parent/caregiver about patient’s preferences (66%) and more time in the room (54%). CONCLUSIONS: Orthopaedic practices looking to improve autistic patient experience can prioritize interventions that lower the sensory demands of cast removal, brace fitting, and radiologic imaging. Orthopaedic surgeons are broadly cognizant of the challenges autistic patients face during clinical visits, but improved awareness and accommodations are necessary. KEY CONCEPTS: (1)Autistic patients can have different communication and sensory needs, potentially making orthopaedic visits stressful and uncomfortable.(2)We surveyed parents/caregivers of autistic patients treated at a single pediatric institution, as well as a national sample of orthopaedic surgeons, regarding the experiences of autistic patients in orthopaedic settings and the factors that make the greatest impact on their experiences.(3)According to autistic patients’ parents/caregivers, the most anxiety-provoking situations were those that involved high sensory loads and/or discomfort, though patient experience can be improved with purposeful eye contact, thorough explanations, and use of technology or distraction devices.(4)According to orthopaedic providers, most practices used accommodations to improve autistic patient experience, though 18% of practices had no accommodations in place and provider approaches to visits with autistic patients were variable.(5)Orthopaedic practices looking to improve autistic patient experience can prioritize interventions that lower the sensory demands of clinical visits and expand baseline accommodations available. LEVEL OF EVIDENCE: IV.

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9. Dell’Osso L, Nardi B, Muti D, De Felice C, Tognini V, Parri F, Giovannoni F, Del Grande F, Bonelli C, Massimetti G, Pini S, Fiorillo A, Carpita B. Comorbidity Between Hikikomori and Autistic Traits May Be Identified as a Phenotypical Presentation Characterized by Greater Severity. Brain Sci. 2025; 15(5).

Objectives: Hikikomori is a condition characterized by extreme social withdrawal, functional impairment, and mental distress, which has gained increasing recognition worldwide. While it can be associated with comorbid psychiatric disorders, hikikomori shares similarities with autism spectrum, prompting investigations into their relationship. Given that hikikomori commonly manifests in early adulthood, this study aimed to explore the relationship between autistic features and hikikomori tendencies among university students. Methods: A total of 2037 university students were recruited via an online survey and assessed with the Adult Autism Subthreshold (AdAS) Spectrum and the Hikikomori Questionnaire (HQ-25). Participants were categorized into four groups: healthy controls (HCs), subjects with hikikomori tendencies (HKs), subjects with significant autistic traits (ATs), and subjects with both significant ATs and hikikomori tendencies (AT-HKs). Results: Results showed significant effects of both hikikomori presence and significant ATs on AdAS Spectrum and HQ-25 scores, while a significant effect of their interaction was detected on AdAS Spectrum scores. The AT-HK group consistently scored higher on both AdAS Spectrum and HQ-25 compared to other groups, with the AT and HK groups outperforming HCs in specific domains. HQ-25 Socialization and Isolation domains predicted higher AdAS Spectrum scores in hikikomori subjects, while various AdAS Spectrum domains served as predictors of HQ-25 scores in AT subjects. Conclusions: This study highlights a significant relationship between ATs and hikikomori tendencies in university students, suggesting that their comorbidity may represent a more severe phenotype, where each condition may exacerbate the other.

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10. Desai R, Reddy S, Truong M, Thankam FG. Molecular basis of autism spectrum disorders. Mol Biol Rep. 2025; 52(1): 508.

Autism is a prevalent neurological disorder that affects the development of children worldwide. With the advent of genome wide association studies and whole exome sequencing methods, associated genes and molecular pathways that lead to the development of autism spectrum disorder (ASD) have garnered recent attention. However, the etiology of ASD is still rudimentary and poorly understood. Thus, understanding the specific molecular pathways that contribute to autism aids in its clinical diagnosis, management, and treatment. Currently, the genes involved are expansive and affect many molecular pathways. These include transcriptional and translational regulation, proteostasis, cytoskeletal organization, synaptic development and plasticity, and autophagy. Additionally, there are a multitude of factors involved in ASD pathogenesis, including neuroinflammation, signaling defects, and vitamin deficiencies. This review aims to provide a comprehensive understanding regarding the genes and underlying molecular mechanisms that contribute to ASD and the translational therapies for the management of ASD.

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11. Earl M, Samyn M, Blackmore C, Brace M, Day J, Javed A, Begum-Ali J, Johnson MH, Jones EJH, Dhawan A, McAlonan GM. General and Autism-Related Neurodevelopmental Difficulties in Biliary Atresia. J Pediatr. 2025: 114673.

OBJECTIVE: To examine neurodevelopment in biliary atresia (BA) and the relationship of neurodevelopment to key disease-related factors STUDY DESIGN: In this single-center, observational study we deployed an anonymized survey of outcomes that was completed by 107 parents of children with BA less than age 12. A detailed assessment of general neurodevelopment (Mullens Scale of Early Learning [MSEL] and Vineland Adaptive Behavior Scale [VABS]) was carried out in 50 infants under 5 years old and emerging autistic traits [Autism Diagnostic Observation Schedule(ADOS-2)] were assessed in those eligible. Ninety-three age- and sex-matched infants, some with higher likelihood of neurodevelopmental conditions, was used as a reference. RESULTS: Neurodevelopmental concerns were raised by 37% of parents, and 47% of children required support from at least one service. In the under 5 years sample, children with BA had significantly lower adaptive and cognitive skills (ANCOVA:VABS,F=18·26,p<·001;MSEL,F=9·981,p<.001) when compared with both children with lower and higher likelihood of neurodevelopmental difficulties. A clinical or research diagnosis of autism was made in 30% of 35 children > 2 years old. Early surgical intervention and faster clearance of jaundice after surgery was associated with better general neurodevelopmental outcomes (F=2·428,p=·042) but not with the presence of emerging autistic traits. CONCLUSIONS: High levels of neurodevelopmental difficulties in children with BA reveal a need for greater awareness and enhanced surveillance. That early identification and treatment of BA is linked to better general neurodevelopmental outcome and encourages proactive management. However, the novel observation that BA is associated with autistic traits unrelated to disease management will need further investigation to establish clinical relevance and optimize clinical pathways.

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12. Espinoza S, Navia C, Torres RF, Llontop N, Valladares V, Silva C, Vivero A, Novoa-Padilla E, Soto-Covasich J, Mella J, Kouro R, Valdivia S, Pérez-Bustamante M, Ojeda-Provoste P, Pineda N, Buvinic S, Lee-Liu D, Henríquez JP, Kerr B. Neuronal Plasticity-Dependent Paradigm and Young Plasma Treatment Prevent Synaptic and Motor Deficit in a Rett Syndrome Mouse Model. Biomolecules. 2025; 15(5).

Classical Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the MECP2 gene, resulting in a devastating phenotype associated with a lack of gene expression control. Mouse models lacking Mecp2 expression with an RTT-like phenotype have been developed to advance therapeutic alternatives. Environmental enrichment (EE) attenuates RTT symptoms in patients and mouse models. However, the mechanisms underlying the effects of EE on RTT have not been fully elucidated. We housed male hemizygous Mecp2-null (Mecp2(-/y)) and wild-type mice in specially conditioned cages to enhance sensory, cognitive, social, and motor stimulation. EE attenuated the progression of the RTT phenotype by preserving neuronal cytoarchitecture and neural plasticity markers. Furthermore, EE ameliorated defects in neuromuscular junction organization and restored the motor deficit of Mecp2(-/y) mice. Treatment with plasma from young WT mice was used to assess whether the increased activity could modify plasma components, mimicking the benefits of EE in Mecp2(-/y). Plasma treatment attenuated the RTT phenotype by improving neurological markers, suggesting that peripheral signals of mice with normal motor function have the potential to reactivate dormant neurodevelopment in RTT mice. These findings demonstrate how EE and treatment with young plasma ameliorate RTT-like phenotype in mice, opening new therapeutical approaches for RTT patients.

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13. Esteban L, Arias VB, Navas P, Verdugo M. Decision-Making Opportunities: A Key Aspect in Processes Aimed at Fostering Independent Living. Intellect Dev Disabil. 2025; 63(3): 230-43.

The aim of this study is to analyze the determining factors and processes associated with changes in self-determination of people with intellectual and developmental disabilities (IDD) and extensive support needs who moved to ordinary homes within the community. A repeated measures design was carried out, collecting data of 54 participants before the transition and 6 months after. Partial least square-structural equation modelling (PLS-SEM) was used to examine complex relationships between variables to estimate the models. After transition, participants’ levels of self-determination, received supports, and choice significantly increased. The effect that received supports had on self-determination was fully mediated by choice, meaning that if supports are not geared towards facilitating autonomy in daily decision making, there will be no improvement in quality of life.

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14. Farhoomand F, Kaban T, Kecheliev V, Delaney KR. Impaired persistence of cortical sensory adaptation following repetitive tactile stimulation in the hindlimb somatosensory cortex of Rett syndrome mice. Neuroscience. 2025.

Reduced response to repeated stimulation (RS) is a signature feature of sensory systems. In this study we examined cortical sensory responses to brief tactile stimulation of the foot/ankle before, during and after periods of RS in young male, young and old female mice. We compared cortical activity in wild-type (WT) mice to mice with mutation in Mecp2 that causes the neurodevelopmental disorder Rett syndrome (RTT). Intrinsic optical signal imaging (IOS) and intracortical local field potential (LFP) measurements revealed reduced cortical responses to test stimuli on the order of 40-50% after 15-min periods of RS. The time-course and magnitude of reduced IOS and LFP to tactile test-stimuli were similar in WT and RTT mice before and during application of RS. However, after cessation of RS cortical responses remained persistently below pre-stimulation in WT mice while RTT mice had significantly more rapid and in some cases complete recovery with an hour of rest. LFP responses to each stimulus in a 7-stimulus test-train characteristically decline. Examining the buildup of this adaptation during test-trains revealed that while the response to the first stimulus in the test-train was generally consistent, responses to successive stimuli in the test-train declined more rapidly after application of RS. This increased adaptation during test-trains persisted in WT mice and reversed more rapidly in RTT mice suggesting that persistent cortical sensory adaptation results from enhancement of processes responsible for short-term adaptation. The lack of persistent cortical sensory adaptation in RTT mice may reflect reduced long-term plasticity within central somatosensory processing circuits.

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15. Griborio-Guzman AG, Ducas RA. Autism and its correlation with increased cardiovascular mortality and diseases. Can J Cardiol. 2025.

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16. Hallajian AH, Dehghani-Arani F, Sima S, Heydari A, Sharifi K, Rahmati Y, Rostami R, Vaziri Z, Salehinejad MA. Theta-Burst Stimulation of the Right Temporoparietal Junction and Implicit Theory of Mind in Autism. Neuromodulation. 2025.

OBJECTIVES: Theory of mind (ToM), or mentalizing, is the ability to attribute mental states to oneself and others and is altered in individuals with autism spectrum disorder (ASD). Recent evidence suggests that implicit rather than explicit ToM is impaired in individuals with ASD. The right temporoparietal junction (rTPJ), which plays a crucial role in ToM, has altered activity in ASD and is a potential terget by noninvasive brain stimulation. MATERIALS AND METHODS: In a randomized single-blind placebo-controlled study, we investigated, for what we believe is the first time, the effects of theta-burst stimulation of the rTPJ on implicit ToM and egocentric bias in 17 adolescents with ASD. Participants (mean age = 13.84 ± 3.32 years) were randomly assigned to three sessions of continuous theta-burst stimulation (cTBS), intermittent theta-burst stimulation (iTBS), and sham stimulation in a counterbalanced order. Stimulation intensity was set to 80% of the active motor threshold during cTBS and iTBS, with the coil centered on the rTPJ (CP6). Immediately after each stimulation, cognitive correlates of ToM, including implicit mentalizing and egocentric bias, were evaluated using the computerized Buzz-lightyear task. RESULTS: Both cTBS and iTBS significantly improved implicit ToM compared with sham stimulation, with cTBS yielding a numerically larger effect (379.2 milliseconds) than did iTBS (191.3 milliseconds), although this difference was not statistically significant. No effect was found on the egocentric bias index. CONCLUSIONS: These findings show a causal link between the rTPJ activation and implicit mentalizing in ASD, suggesting that theta-burst stimulation of this region can be used to enhance ToM in ASD. Targeting the rTPJ may improve implicit mentalizing in ASD and other disorders with impaired ToM.

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17. Jing PB, Zhou YW, Zhang FM, Ge JY, Wu JN, Xu JH, Cao XH, Chang N, Zhou X, Luo L, Liu XJ. Autistic-like behaviors and impaired chronic inflammatory pain in primary nociceptive neuron-specific deletion of Mecp2 or Fmr1 knockout male mice. Behav Brain Res. 2025; 486: 115570.

AIMS: Recent studies have identified the roles of autism risk genes in primary sensory neurons and their connection to autism spectrum disorder (ASD) etiology. However, further research is needed to determine the specific impact of different sensory neuron populations. The aim of this study was to investigate the actions of Mecp2 or Fmr1 expression in primary nociceptive neurons on ASD and pain perception. METHODS: Conditional knockout mice lacking Mecp2 or Fmr1, both known to be associated with ASD, were generated specifically in nociceptive neurons of dorsal root ganglion (DRG) and trigeminal ganglion. A series of behavioral tests were used to assess ASD-relevant and pain-related behaviors in normal and inflammatory pain states. Formalin and complete Freund’s adjuvant (CFA) injection were used to evoke acute and chronic inflammatory pain. Immunofluorescent approach was employed to study neuroinflammation and calcitonin gene-related peptide (CGRP) expression. RESULTS: Both lines exhibited autistic-like behaviors, with reduced social interactions in SNS(cre)/Mecp2(f/y) mice and increased repetitive behaviors in SNS(cre)/Fmr1(f/y) mice. Although SNS(cre)/Mecp2(f/y) and SNS(cre)/Fmr1(f/y) mice displayed normal baseline pain, formalin-evoked acute and subacute pain sensation, CFA-evoked persistent inflammatory pain was impaired, especially less thermal hyperalgesia. Consistently, neuroinflammation and neural CGRP expression in SNS(cre)/Mecp2(f/y) and SNS(cre)/Fmr1(f/y) mice was reduced in response to CFA-injection. CONCLUSIONS: Absent Mecp2 or Fmr1 in primary nociceptive neurons plays role in the pathogenesis of ASD and that their expression in primary nociceptors is crucial for the maintenance of chronic inflammatory pain by reducing neuroinflammation and CGRP expression in the peripheral and central nervous systems.

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18. Katz H. Teaching Physical Education to Children With Autism: Stories From the Field. Adapt Phys Activ Q. 2025: 1-2.

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19. Kortekaas D, Healy S, Van Damme T, Einarsson I, Burns J, Van Biesen D. Coaching Individuals With Intellectual Disability and/or Autism: Perspectives of Coaches and Physical Education Teachers in Belgium. Adapt Phys Activ Q. 2025: 1-27.

This qualitative study explored the experiences of coaches and physical education teachers, collectively referred to as physical activity (PA) professionals, when coaching individuals with intellectual disability (ID) and/or autism. Furthermore, this study explored the educational resources utilized by PA professionals and their needs in terms of increasing knowledge and skills. Semistructured interviews were conducted with 16 PA professionals active across various contexts (segregation, integration, and inclusion). The interviews were analyzed using reflexive thematic analysis. Coaching individuals with ID and/or autism involves considering multiple factors including their physical abilities and behavioral characteristics, the expectations of parents/caregivers, and coach competence. PA professionals experienced complexities of coaching individuals with ID and/or autism and challenges at interpersonal, sport-specific, and environmental/policy levels expressing a need for more tailored education, hands-on experience with the population, and peer support. These findings can guide the development of tailor-made educational tools for coaches to enhance sport participation for individuals with ID and/or autism.

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20. Kwon J, Kotani H. Quantifying Body Motion Synchrony in Autism Spectrum Disorder Using a Phase Difference Detection Algorithm: Toward a Novel Behavioral Biomarker. Diagnostics (Basel). 2025; 15(10).

Background/Objectives: Nonverbal synchrony-the temporal coordination of physical behaviors such as head movement and gesture-is a critical component of effective social communication. Individuals with autism spectrum disorder (ASD) are often described as having impairments in such synchrony, but objective and scalable tools to measure these disruptions remain limited. This study aims to assess body motion synchrony in ASD using phase-based features as potential markers of social timing impairments. Methods: We applied a phase difference detection algorithm to high-resolution triaxial accelerometer data obtained during structured, unidirectional verbal communication. A total of 72 participants (36 typically developing TD-TD and 36 TD-ASD) were divided into dyads. ASD participants always assumed the listener role, enabling the isolation of receptive synchrony. Four distribution-based features-synchrony activity, directionality, variability, and coherence-were extracted from the phase difference data to assess synchrony dynamics. Results: Compared to the TD group, the ASD group exhibited significantly lower synchrony activity (ASD: 5.96 vs. TD: 9.63 times/min, p = 0.0008, Cohen’s d = 1.23), greater temporal variability (ASD: 384.4 ms vs. TD: 311.1 ms, p = 0.0036, d = 1.04), and reduced coherence (ASD: 0.13 vs. TD: 0.81, p = 0.036, d = 0.73). Although the mean phase difference did not differ significantly between groups, the ASD group displayed weaker and more irregular synchrony patterns, indicating impaired temporal stability. Conclusions: Our findings highlight robust impairments in nonverbal head motion synchrony in ASD, not only in frequency but also in terms of temporal stability and convergence. The use of phase-based synchrony features provides a continuous, high-resolution, language-independent metric for social timing. These metrics offer substantial potential as behavioral biomarkers for diagnostic support and intervention monitoring in ASD.

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21. La Monica I, Di Iorio MR, Sica A, Rufino F, Sotira C, Pastore L, Lombardo B. Autism Spectrum Disorder: Genetic Mechanisms and Inheritance Patterns. Genes (Basel). 2025; 16(5).

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that first develops in early childhood and is characterized by restricted interests, activities, and behaviors, as well as difficulties with social interactions and communication. ASD arises from a complex interaction between environmental factors and genetic inheritance, influenced by epigenetic mechanisms. With an estimated heritability of 70-90%, ASD is highly familial, indicating that genetic factors play a significant role in its development. This shows how hundreds of genetic variants contribute to ASD, whose risk effects are highly variable and are often related to other conditions; these genetic alterations are at different levels, which include single gene mutations, monogenic disorders, genomic variants, and chromosomal abnormalities. Copy number variants (CNVs) appear to contribute significantly to understanding the pathogenesis of this complex disease. In some cases, single CNVs in genomic DNA are pathogenic and causative, supporting the hypothesis that some sporadic cases of ASD may result from rare mutations with significant clinical impact. However, in many cases, there are common genomic variants that increase the risk of developing ASD but are insufficient by themselves to determine an ASD phenotype, and rare genomic variants, of various sizes, inherited from a parent or de novo, that can be associated with the ASD phenotype. Therefore, the aim of this review is to deepen the concept of ASD inheritance through the two-hit theory of CNVs, in which the concomitant presence of two alterations could determine the clinical phenotypes, the concept of incomplete penetrance for inherited CNVs with pathogenic clinical significance, and the presence of compound heterozygosity. These aspects represent important mechanisms underlying the pathogenesis of autism, contributing to a better elucidation for the understanding of the genetic contribution to the ASD phenotype.

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22. LaPoint SC, Kiernan BW, Heinly JM, Luken K, Stahl S, Maddox BB. Family Support ECHO: Enabling Community Providers to Support Families of People With Disabilities. Intellect Dev Disabil. 2025; 63(3): 185-99.

Little funding is allocated to helping families provide lifelong support for their family members with intellectual and/or developmental disabilities (IDD). The North Carolina (NC) Family Support ECHO™ program was created to help family support specialists (n = 50) meet the needs of this population. This evaluation used a mixed-methods approach and revealed that, on average, participants agreed that they were satisfied with the NC Family Support ECHO program and improved their self-efficacy from pre- to post-assessment. This evaluation demonstrates the positive impact that NC Family Support ECHO has had on providers who support this population. Future research should aim to understand how the NC Family Support ECHO program improves outcomes for people with IDD and their families.

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23. Lecciso F, Martis C, Levante A. The Use of Griffiths III in the Appraisal of the Developmental Profile in Autism: A Systematic Search and Review. Brain Sci. 2025; 15(5).

BACKGROUND: Griffiths III is a child-friendly and play-oriented direct gold-standard measure of a 0-6-year-old child’s developmental profile. It is a measure that helps practitioners in detecting the weaknesses in children who have an increased likelihood or a diagnosis of neurodevelopmental disorders, e.g., autism. OBJECTIVES: Following the PICO protocol, two research questions addressed the current systematic search and review (Prospero registration: CRD42024554286): What is(are) the main developmental domain(s) evaluated by Griffiths III impaired in autism? (RQ1); Using Griffiths III, what is(are) the main developmental domain(s) improved after an autism-specific early intervention? (RQ2). METHODS: Six studies have been reviewed: three case-control studies, a case report study, and two studies examining the effectiveness of early autism-specific interventions. According to the study design, the methodological quality was evaluated using three standardised protocols: STROBE; JBI; CEC. RESULTS: The results highlighted that the Language and Communication and Personal-Social-Emotional domains are the most impaired in autistic children and in those with an increased likelihood (RQ1). The results outlined that early target intervention enhanced the same domains (RQ2). CONCLUSIONS: In conclusion, the findings highlight the importance of screening not only for autism traits but also for impairments in language, communication, and socio-emotional skills. The future direction of the results is discussed.

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24. Li G, Wei D, Lyu Z, Xing Y, Li Y, Song W. Prefrontal Blood Flow Activity During Drawing Intervention in School-Age Children with Autism: An fNIRS Hyperscanning Study. Brain Sci. 2025; 15(5).

Background/Objectives: Art-based interventions have been shown to enhance communication skills in children with autism spectrum disorder (ASD), yet their impact on prefrontal hemodynamics remains unclear. Methods: This study employed functional near-infrared spectroscopy (fNIRS) to examine hemoglobin oxygenation (HbO) changes in the prefrontal cortex of school-age children with ASD, providing empirical support for its therapeutic efficacy. Sixty age-matched children participated in a 9-week art therapy program, including twenty ASD children and forty typically developing peers. Assessments included self-portrait drawing (SPD), the Diagnostic Drawing Series (DDS), and the General Quality of Life Inventory (GQOL-74). In addition, we performed fNIRS measurements in the ASD participants and observed changes in prefrontal HbO at rest and while drawing. Results: The drawing intervention significantly enhanced drawing ability, emotional expression, and cognitive skills, with the intervention group outperforming the controls. ASD participants exhibited distinct prefrontal connectivity patterns with visual, motor, and language-related regions, including the dorsolateral prefrontal cortex, frontal eye field, and Broca’s area. Task-based painting interventions indirectly influenced the frontal lobe’s hemodynamic characteristics, indicating drawing intervention as an effective intervention for ASD.

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25. Looi MK. Trump watch: RFK Jr delays autism deadline, US cuts global food aid, and more. Bmj. 2025; 389: r1093.

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26. Marafioti G, Bonanno L, Piccolo A, Giambò FM, Lo Buono V, Di Cara M, De Domenico C, Fulgenzi A, Leonardi S, Impallomeni C, Tripodi E, Quartarone A, Cucinotta F. The Impact of Co-Occurring Behavioral and Emotional Problems on the Quality of Life of Caregivers of Autistic Children: A Preliminary Study. J Clin Med. 2025; 14(10).

Background: Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by symptoms that vary in how severe they are. ASD individuals often present with psychiatric comorbidities that significantly impact their well-being and quality of life (QoL), with possible impacts on their family. Aims: This preliminary study aims to assess the impact of internalizing and externalizing behaviors, not closely related to the core symptoms of autism, on the QoL of their caregivers. Method: A pilot study was conducted with a sample of 58 children diagnosed with ASD and their caregivers, using the Quality of Life in Autism (QoLA) questionnaires for caregivers and the Child Behavior Checklist (CBCL) to evaluate the children’s behavioral and emotional problems. Results and Conclusions: The results revealed significant differences in the mean age of the children (3.32 ± 0.88 vs. 8.47 ± 2.51 years) and caregivers (35.68 ± 7.57 vs. 40.42 ± 6.43 years), with a notable impact of specific behavioral issues, such as attention, aggression, and externalizing behaviors, on the QoL of caregivers. In younger children, caregivers’ QoL was positively correlated with their age, with sleep problems being the primary source of stress. In older children, a negative correlation was found between caregivers’ age and their QoL, with conduct and social problems in children having a negative effect on caregivers’ well-being. These findings highlight the importance of targeted interventions to mitigate the impact of these factors on the QoL of caregivers of ASD children.

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27. Marinov D, Eyubova S, Toneva A, Chamova R, Braykova R, Hadzhieva S, Pancheva R. Linking Dietary Patterns to Autism Severity and Developmental Outcomes: A Correlational Study Using Food Frequency Questionnaires; The Childhood Autism Rating Scale, Second Edition; And Developmental Profile 3. Biomedicines. 2025; 13(5).

Background/Objectives: Autism Spectrum Disorder (ASD) is characterized by social communication challenges and repetitive behaviors. Children with ASD often exhibit selective eating habits that may result in nutritional deficiencies and exacerbate developmental issues. While food frequency questionnaires (FFQs) are effective for dietary assessment, the links between food preferences, ASD severity, and developmental outcomes remain underexplored, particularly in Bulgaria. This study examines these relationships using validated tools. Methods: The present report constitutes a pilot, hypothesis-generating substudy of the broader NutriLect project. This substudy involved 49 children aged 2-12 years diagnosed with ASD. Dietary patterns were evaluated with a modified FFQ, while ASD severity and developmental profiles were assessed using the Childhood Autism Rating Scale, Second Edition (CARS-2) and the Developmental Profile 3 (DP-3). Results: Among 49 ASD children (mean age = 6.89 ± 2.15 years; 86% boys), 73.4% consumed grains/potatoes daily. Only 34.7% met combined fruit and vegetable recommendations. Only 36.7% met the recommendation for daily milk or other dairy product consumption. Fish was consumed at least twice weekly by only 22,4%. Furthermore, children with more severe autism were approximately 9.4 times more likely to consume grains daily (χ(2) = 14.319, p = 0.006). Logistic regression analyses indicated that higher cognitive scores were strongly associated with lower grain (OR ≈ 0.044) and other dairy products consumption (OR ≈ 0.337), yet with greater fish intake (OR ≈ 3.317). In contrast, better communication skills corresponded to increased milk consumption (OR ≈ 5.76), and higher physical development scores predicted more frequent egg consumption (OR ≈ 4.40). Conclusions: The pronounced preference for grain and meat products, which are frequently ultra-processed, and avoidance of nutrient-dense foods in children with severe ASD symptoms underscore the need for tailored dietary interventions. These interventions must address sensory sensitivities, nutritional inadequacies, and the risks that selective nutrition can have on the nutritional status and development of the children.

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28. Mietto M, Montanari S, Falzarano MS, Manzati E, Rimessi P, Fabris M, Selvatici R, Gualandi F, Neri M, Fortunato F, Foti MRS, Bigoni S, Gessi M, Vacca M, Torelli S, Hayek J, Ferlini A. MECP2 mRNA Profile in Brain Tissues from a Rett Syndrome Patient and Three Human Controls: Mutated Allele Preferential Transcription and In Situ RNA Mapping. Biomolecules. 2025; 15(5).

Rett syndrome (RTT) is a rare X-linked dominant neurodevelopmental disorder caused by pathogenic variants in the methyl-CpG-binding protein 2 (MECP2) gene, which encodes a methyl-CpG-binding protein (MeCP2) that acts as a repressor of gene expression, crucial in neurons. Dysfunction of MeCP2 due to its pathogenic variants explains the clinical features of RTT. Here, we performed histological and RNA analyses on a post-mortem brain sample from an RTT patient carrying the p.Arg106Trp missense mutation. This patient is part of a cohort of 56 genetically and clinically characterized RTT patients, for whom we provide an overview of the mutation landscape. In the RTT brain specimen, RT-PCR analysis detected preferential transcription of the mutated mRNA. X-inactivation studies revealed a skewed X-chromosome inactivation ratio (95:5), supporting the transcriptional findings. We also mapped the MECP2 transcript in control human brain regions (temporal cortex and cerebellum) using the RNAscope assay, confirming its high expression. This study reports the MECP2 transcript representation in a post-mortem RTT brain and, for the first time, the in situ MECP2 transcript localization in a human control brain, offering insights into how specific MECP2 mutations may differentially impact neuronal functions. We suggest these findings are crucial for developing RNA-based therapies for Rett syndrome.

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29. Moore CM. Examining Education Models for Clinical Staff Working with People with Intellectual and Developmental Disabilities in Hospice and Palliative Care: A Narrative Literature Review. Am J Hosp Palliat Care. 2025: 10499091251346457.

BackgroundEducation and training are essential for providing quality hospice and palliative care (HAPC). Despite individuals with intellectual and developmental disabilities (IDD) living longer with serious illness, healthcare professionals report inadequate training in this area. Additionally, IDD specialists consistently express discomfort and limited knowledge regarding HAPC.ObjectiveThis narrative review evaluates existing education and training models for hospice and palliative care (HAPC) professionals working with individuals with IDD, emphasizing the reciprocal educational needs between these two specialties.MethodsA comprehensive literature search was conducted in March 2024 across multiple databases, including Embase, PubMed, and CINAHL, using terms related to IDD, training, and palliative care. Inclusion and exclusion criteria were applied, resulting in seven relevant studies providing insight into educational interventions for IDD and palliative care professionals.ResultsFindings indicate that while several studies demonstrate positive outcomes regarding knowledge, self-efficacy, and satisfaction among participants, there is a lack of standardized training and patient-centered metrics. Existing interventions largely focused on improving the knowledge of IDD staff regarding HAPC, with limited attention given to educating HAPC professionals on the nuances and complexities needs of people with IDD.ConclusionThis review underscores the importance of developing and implementing evidence-based and standardized training programs that encompass the needs of both HAPC and IDD specialists. Future research should prioritize inclusive educational frameworks that involve individuals with IDD and their families in the development process. Attention to exploring metrics beyond self-reported outcomes to enhance the quality of HAPC provided to this vulnerable population should be prioritized.

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30. Morris AM, Lynch S, Kasdin RG, Hill I, Shah S, Shanker P, Becker TD, Staudenmaier P, Leong AW, Martin D, Rice T. Inpatient Child and Adolescent Psychiatry Youth with Autism and/or Intellectual Disabilities: Clinical Characteristics and Considerations. J Autism Dev Disord. 2025.

Children and adolescents with autism spectrum disorder and/or an intellectual disability (ASD/ID) are psychiatrically hospitalized at disproportionately higher rates than youth without ASD/ID. Despite this, few studies have compared the clinical courses of youth with and without ASD/ID in inpatient (IP) child and adolescent psychiatry (CAP) settings. This study used a cross-sectional design of all youth (M = 14.0 years, SD = 2.6 years) admitted to an urban IP unit between 2018 and 2021 to examine differences between ASD/ID and non-ASD/ID youth across dimensions of sociodemographic and psychiatric history and clinical course. 1101 Patients were included in the study and 170 (15.4%) had a history of ASD/ID. ASD/ID youth were more likely to be younger, be male, have histories of violence, and on average have more prior hospitalizations and existing psychotropic prescriptions than their non-ASD/ID counterparts. ASD/ID youth were less likely than their non-ASD/ID peers to be admitted for suicidality and more likely to be admitted for aggression; they had longer average lengths of stay, received more IP emergency medications for agitation, and experienced greater polypharmacy at discharge. The IP psychiatric clinical course of ASD/ID youth differs from that of non-ASD/ID youth, suggesting that ASD/ID youth often present to IP settings with externalizing symptoms. Findings highlight the importance of clinical strategies tailored to the unique needs of ASD/ID youth to improve their care in general IP CAP settings.

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31. Murthy S, Harris SP, Hsieh K. Informal Support Needs of Family Caregivers of Adults With Intellectual and Developmental Disabilities in India. Intellect Dev Disabil. 2025; 63(3): 200-15.

Informal supports reduce stress and improve well-being for family caregivers of adults with intellectual and developmental (IDD) disabilities. A strengths-based mixed methods needs assessment was conducted with a convenience sample of 100 family caregivers in India to explore their informal needs and strategies for obtaining informal supports. Results showed that fewer caregivers received informal supports, and unemployed caregivers reported higher support needs for social interaction. Caregivers of adults who also had cerebral palsy were less likely to need opportunities to meet and talk with other caregivers. Caregivers believed that having more caregiver associations would result in better care provision for themselves and their family members with IDD. Seeking supports outside government/other formal systems seems like a promising family support strategy for caregivers in India.

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32. Nollace L, Panagiotis D, Convertini J, Grilo N, Ansermot N, Guinchat V. Case report: Case series of urinary retention in young adults with severe autism hospitalized for behavioral crisis. Front Psychiatry. 2025; 16: 1570436.

BACKGROUND: Behavioral regressions in low verbal patients with severe autism constitute a dramatic challenge for clinicians. A physical comorbidity burden is often involved but difficult to evidence. AIM: We present five cases of patients under 30 years old (three men and two women), recently hospitalized in a specialized multidisciplinary inpatient unit, settled in Lausanne University Hospital, and for which at some point, a urinary retention contributed to the constitution of a complex behavioral picture. METHODS: For each patient, we report the individual risk factors, clinical presentation and the conditions for making the diagnosis. RESULTS: As the usual guidelines for screening, management, and follow-up of urinary retentions are irrelevant in this population, we provide and discuss some recommendations: limitation of anticholinergic burden, strict application of the protocol for going to the toilet with training protocol, regularization of intestinal transit, daily bladder-scan control, and eventually use of Tamsulosin hydrochloride. These recommendations significantly improved the urinary status of our patients. CONCLUSION: We conclude that chronic urinary retention is probably a recurrent and unrecognized feature in many young adults with autism and challenging behaviors, reflecting the long-term impact of iatrogenic medication and requiring a specific attention.

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33. Paditz E, Renner B, Koch R, Schneider BM, Schlarb AA, Ipsiroglu OS. The Pharmacokinetics, Dosage, Preparation Forms, and Efficacy of Orally Administered Melatonin for Non-Organic Sleep Disorders in Autism Spectrum Disorder During Childhood and Adolescence: A Systematic Review. Children (Basel). 2025; 12(5).

Background: To date, it remains unclear which oral doses and preparation forms of melatonin should be recommended for children and adolescents with non-organic sleep disorders and autism spectrum disorder (ASD). We reviewed the current state of knowledge on this topic based on randomised placebo-controlled trials (RCTs) and diagnosis-related blood melatonin concentrations available in this age group. Method: Two investigators independently searched PubMed, PsycINFO, MEDLINE, and Cochrane CENTRAL on 1 March 2025 for the keywords « melatonin », « autism », and « randomised » in titles and abstracts in all languages, including an evaluation of the references of the reviews, systematic reviews, and meta-analyses published up to that date, some of which were based on searches in numerous databases. Based on this, additional in-depth searches were carried out in PubMed for pharmacokinetic, physiological, and pathophysiological data on melatonin in children and adolescents, with a special focus on ASD. Results: To date, five RCTs on non-organic sleep disorders in children and adolescents with the sole diagnosis of ASD or with subgroup analyses in the presence of several initial diagnoses such as ADHD, epilepsy, Smith-Magenis, or Fragile X syndrome are available. In these studies, rapid-release, non-delayed preparations were administered orally. In one of these studies, the clinical efficacy of a combination preparation with a sustained-release and a non-released active substance component was tested. Pharmacokinetic data with multiple determinations of melatonin concentrations in the blood are only available for children with ASD in the form of a case series (N = 9). Discussion: RCTs comparing the efficacy of delayed melatonin preparations with non-delayed rapid-release oral preparations are not yet available. Physiological data and clinical effects documented in five RCTs indicate that non-delayed melatonin preparations with an initial rapid onset of action are effective for non-organic sleep disorders in children and adolescents with ASD. Conclusions: From a clinical, pharmacokinetic, and physiological point of view, the RCTs available to date and the data on melatonin concentrations in the blood of children with ASD, measured several times over 24 h, suggest that a low oral melatonin dose and a non-delayed preparation with rapid onset should be started in children and adolescents with non-organic sleep disorders in ASD, if sleep hygiene advice and psychotherapeutic interventions have not demonstrated sufficient effects.

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34. Ren Y, Ma Z, Ding Z, Yang R, Li X, He X, Liu T. SFPGCL: Specificity-preserving federated population graph contrastive learning for multi-site ASD identification using rs-fMRI data. Comput Med Imaging Graph. 2025; 124: 102558.

Autism spectrum disorder (ASD) is a severe neurodevelopmental disorder that affects people’s social communication and daily routine. Most existing imaging studies on ASD use single site resting-state functional magnetic resonance imaging (rs-fMRI) data, which may suffer from limited samples and geographic bias. Improving the generalization ability of the diagnostic models often necessitates a large-scale dataset from multiple imaging sites. However, centralizing multi-site data generally faces inherent challenges related to privacy, security, and storage burden. Federated learning (FL) can address these issues by enabling collaborative model training without centralizing data. Nevertheless, multi-site rs-fMRI data introduces site variations, causing unfavorable data heterogeneity. This negatively impacts biomarker identification and diagnostic decision. Moreover, previous FL approaches for fMRI analysis often ignore site-specific demographic information, such as age, gender, and full intelligence quotient (FIQ), providing useful information as non-imaging features. On the other hand, Graph Neural Networks (GNNs) are gaining popularity in fMRI representation learning due to their powerful graph representation capabilities. However, existing methods often focus on extracting subject-specific connectivity patterns and overlook inter-subject relationships in brain functional topology. In this study, we propose a specificity-preserving federated population graph contrastive learning (SFPGCL) framework for rs-fMRI analysis and multi-site ASD identification, including a server and multiple clients/sites for federated model aggregation. At each client, our model consists of a shared branch and a personalized branch, where parameters of the shared branch are sent to the sever, while those of the personalized branch remain local. This setup facilitates invariant knowledge sharing among sites and also helps preserve site specificity. In the shared branch, we employ a spatio-temporal attention graph neural network to learn temporal dynamics in fMRI data invariant to each site, and introduce a model-contrastive learning method to mitigate client data heterogeneity. In the personalized branch, we utilize population graph structure to fully integrate demographic information and functional network connectivity to preserve site-specific characteristics. Then, a site-invariant population graph is built to derive site-invariant representations based on the dynamic representations acquired from the shared branch. Finally, representations generated by the two branches are fused for classification. Experimental results on Autism Brain Imaging Data Exchange (ABIDE) show that SFPGCL achieves 80.0 % accuracy and 79.7 % AUC for ASD identification, which outperforms several other state-of-the art approaches.

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35. Schröder S, van Elburg A, Spek A, Danner U. Eating Behaviors of Autistic Women with an Eating Disorder. Nutrients. 2025; 17(10).

Background: Autistic women with eating disorders (EDs) often present with more complex EDs and may not fully benefit from current treatments, yet the reasons for this remain unclear. This study aims to examine the eating behaviors of autistic women with EDs and how these differ from those of (1) non-autistic women with EDs, (2) autistic women without EDs, and (3) non-autistic female controls. It investigates autism-related eating behaviors, traditionally disordered eating behaviors, and avoidant-restrictive food intake disorder (ARFID)-related behaviors to better understand their complex ED presentations. Methods: A cross-sectional study was conducted with 30 autistic women with EDs, 30 non-autistic women with EDs, 29 autistic women without EDs, and 60 non-autistic female controls. Participants completed questionnaires assessing eating behaviors, quality of life, and comorbid psychological symptoms. Results: Autistic women with EDs exhibited higher levels of both autism-related and disordered eating behaviors than all other groups, including food selectivity, mealtime rigidity, and sensory-related eating difficulties. They also reported notable weight and shape concerns. Additionally, they showed higher levels of comorbidity and reported lower mental health-related quality of life compared to all other groups. Conclusions: These findings suggest that the overlap of autism-related and disordered eating behaviors contributes to the complexity and severity of EDs in autistic women, potentially limiting the effectiveness of current treatment approaches. Developing autism-informed interventions that address sensory sensitivities, rigidity, and cognitive differences may improve treatment outcomes. Future research should explore how these factors interact in maintaining ED pathology and identify strategies to distinguish adaptive from maladaptive eating behaviors.

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36. Tapia YY, Ciaccio C, Bacınoğlu MB, D’Arrigo S, Sciacca FL. A Patient with a Small Deletion Affecting Only Exon 1-Intron 1 of the NXF5 Gene: Potential Evidence Supporting Its Role in Neurodevelopmental Disorders. Genes (Basel). 2025; 16(5).

Genetic studies have identified numerous candidate genes for neurodevelopmental disorders associated with intellectual disability (ID) and autism spectrum disorders (ASD). Some genetic anomalies are very rare or challenging to detect, making it essential to validate the presence of gene mutations or copy number variations in additional patients with similar clinical phenotypes. Background/Objectives: Case reports play a crucial role in this process by validating rare variants in phenotypically matched patients, shedding light on novel candidate genes linked to these disorders. Methods: Patients with ID and ASD underwent neurological examinations, brain magnetic resonance imaging (MRI), sleep and wake electroencephalogram (EEG), neuropsychological evaluations, and laboratory tests including molecular analysis for fragile-X syndrome and array comparative genomic hybridization (aCGH). Results: We observed a patient with ID and ASD who carried a microdeletion in Xq22.1 that affects only exon 1 and intron 1 of the Nuclear RNA Export Factor 5 (NXF5) gene. The patient’s phenotypic features overlap with those of the only four previously reported cases of variations involving the same gene. Conclusions: Our findings suggest that NXF5 may play a role in neurodevelopmental disorders and should be considered in the spectrum of X-linked ID associated with ASD.

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37. Toscano F, Zirilli G, Randazzese SF, Carlino M, Gallizzi R, Wasniewska M, Valenzise M. Scurvy, all the faces you can see: our experience and review of the literature. Ital J Pediatr. 2025; 51(1): 159.

BACKGROUND: In the recent past an incremental incidence of scurvy has been reported in the pediatric population, especially in children with neuropsychiatric disorders and a selective diet. Musculoskeletal manifestations, such as limp and refusal to walk, usually represent the main causes of access in the emergency room. Nowadays, new patterns of manifestations have been demonstrated, such as hematological and cardiological changes including pulmonary hypertension, rarely resulting in potential lethal complications. CASE PRESENTATION: We describe five pediatric patients affected by developmental delay or autism, with a restrictive diet, diagnosed with scurvy during the hospitalization: 3 pre-school aged boys presenting with typical clinical presentation, due to severe malnutrition; a 6-year-old girl with refusal to walk and a very high titre of inflammatory markers, without typical signs of scurvy; a 4-year-old boy with severe pulmonary hypertension, rarely related to vitamin C deficiency. In all the cases, a prompt resolution of the symptoms after the administration of vitamin C has been observed, confirming the diagnosis. CONCLUSION: At present, scurvy is a more contemporary condition than previously thought. It is fundamental to recognize both typical and atypical manifestations to avoid delay of diagnosis or rarely life-threatening complications.

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38. Toutain M, Paris S, Lefranc S, Henry L, Grandgeorge M. From Gaze to Interaction: Links Between Visual Attention, Facial Expression Identification, and Behavior of Children Diagnosed with ASD or Typically Developing Children with an Assistance Dog. Behav Sci (Basel). 2025; 15(5).

Understanding how children engage with others is crucial for improving social interactions, especially when one of the partners is an animal. We investigated relationships between interaction strategies, visual attention, and facial expression identification of children interacting with an assistance dog, and evaluated the effects of a neurodevelopmental disorder (Autism Spectrum Disorder (ASD)) on these elements. Thus 20 children (7 with ASD, 13 with typical development or TD) participated in three experimental tasks: (1) face-to-face encounters with the assistance dog while wearing eye-tracking glasses to analyze visual exploration patterns; (2) free interactions with the assistance dog, assessed using ethological methods and (3) a computerized task evaluating human and canine facial expression identification. The results revealed that (1) visual exploration patterns varied depending on task instructions: ASD children paid less attention to faces and more to the environment than TD children; (2) both groups displayed similar behavioral patterns during free interactions with the assistance dog; (3) facial expression identification data did not differ between groups; and (4) within-group associations emerged between visual attention, spontaneous interaction behaviors, and facial expression identification abilities. These findings highlighted the complex interplay between visual attention, facial expression identification, and social behavior of children, emphasizing the importance of context in shaping interaction strategies.

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39. Visegrády A. The Possible Role of Postnatal Biphasic Dysregulation of IGF-1 Tone in the Etiology of Idiopathic Autism Spectrum Disorder. Int J Mol Sci. 2025; 26(10).

Autism spectrum disorder (ASD) is a pervasive condition of neurodevelopmental origin with an increasing burden on society. Idiopathic ASD is notorious for its heterogeneous behavioral manifestations, and despite substantial efforts, its etiopathology is still unclear. An increasing amount of data points to the causative role of critical developmental alterations in the first year of life, although the contribution of fetal, environmental, and genetic factors cannot be clearly distinguished. This review attempts to propose a narrative starting from neuropathological findings in ASD, involving insulin-like growth factor 1 (IGF-1) as a key modulator and demonstrates how the most consistent gestational risk factors of ASD-maternal insulin resistance and fetal growth insufficiency-converge at the perinatal dysregulation of offspring anabolism in the critical period of early development. A unifying hypothesis is derived, stating that the co-occurrence of these gestational conditions leads to postnatal biphasic dysregulation of IGF-1 tone in the offspring, leading first to insulin-dependent accelerated development, then to subsequent arrest of growth and brain maturation in ASD as an etiologic process. This hypothesis is tested for its explanation of various widely reported risk factors and observations of idiopathic ASD, including early postnatal growth abnormalities, the pervasive spectrum of symptoms, familial predisposition, and male susceptibility. Finally, further directions of research are outlined.

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40. Xia J, Bajpai AK, Liu Y, Yu L, Dong Y, Li F, Chen F, Lu L, Feng S. Systems Genetics Reveals the Gene Regulatory Mechanisms of Arrb2 in the Development of Autism Spectrum Disorders. Genes (Basel). 2025; 16(5).

BACKGROUND: Autism spectrum disorder (ASD) involves complex interactions between genetic and environmental factors. Recent studies suggest that dysregulation of β-arrestin2 (Arrb2) in the central nervous system is linked to ASD. However, its specific mechanisms remain unknown. METHODS: This study employs a systems genetics approach to comprehensively investigate Arrb2 in multiple brain tissues, including the amygdala, cerebellum, hippocampus, and prefrontal cortex, using BXD recombinant inbred (RI) strains. In addition, genetic variance analysis, correlation analysis, expression quantitative trait loci (eQTL) mapping, and functional annotation were used to identify the key downstream targets of Arrb2, validated by quantitative reverse transcription polymerase chain reaction (qRT-PCR) and Western blotting (WB). RESULTS: Arrb2 exhibited expression variations across the four brain regions in BXD mice. eQTL mapping revealed that Arrb2 is cis-regulated, and increased Arrb2 expression levels were significantly correlated with ASD-like symptoms, such as impaired social interactions and abnormal learning and memory. Furthermore, protein-protein interaction (PPI) network analysis, tissue correlation, functional relevance to autism, and differential expression identified eight downstream candidate genes regulated by Arrb2. The experimental results demonstrated that deletion of Arrb2 led to the downregulation of Myh9, Dnmt1, and Brd4 expression, along with protein kinase A (PKA)-induced hyperactivation of Synapsin I. These findings suggest that Arrb2 may contribute to the pathogenesis of autism by modulating the expression of these genes. CONCLUSIONS: This study highlights the role of Arrb2 in ASD pathogenesis and identifies Myh9, Dnmt1, and Brd4 as key downstream regulators. These findings provide new insights into the molecular mechanisms of ASD and pave the way for novel therapeutic targets.

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41. Yildiz A, Yildiz R, Apaydin U, Efkere PA, Gücüyener K, Hirfanoglu IM, Elbasan B. Effects of SAFE Early Intervention Approach in the First Months of Life in Infants at Risk: A Randomized Controlled Study. Child Care Health Dev. 2025; 51(4): e70107.

BACKGROUND: This study aimed to examine the effects of the SAFE early intervention approach (Sensory strategies, Activity-based motor training, Family collaboration, and Environmental Enrichment), developed for at-risk infants, on motor, cognitive, language development, and sensory processing skills in the first 3 months of life. METHODS: Twenty-six infants with a corrected age of 42 weeks were included in the study, and the infants were randomly distributed to the treatment and control groups. The SAFE early intervention approach was applied to 14 infants in the treatment group, and the Neurodevelopmental Treatment-based home programme was applied to 12 infants in the control group. All infants included in the study were evaluated at the corrected 42nd week before the intervention and at the corrected 12th week after the intervention by an evaluator blinded to the treatment. Bayley Scales of Infant and Toddler Development III (Bayley-III) to evaluate cognitive and motor development; Test of Infant Motor Performance (TIMP) to evaluate neuromotor development; Infant/Toddler Sensory Profile 2 (ITSP 2) to assess sensory processing t was used. The Infant/Toddler HOME Inventory was used to evaluate the home environment. RESULTS: The interaction effects (time × group) revealed significant advantages for the SAFE early intervention group, evidenced by higher scores in the Bayley-III motor composite, TIMP elicited and HOME total assessments (p < 0.05). However, the interaction effects (time × group) showed no differences between the groups in the Bayley-III cognitive and language composite scores, as well as the TIMP observed and TIMP total scores (p > 0.05). The main effect for time was significant in all parameters (p < 0.05). Similarly, the main impact for groups was substantial in all evaluation parameters except the Bayley-III language composite score and TIMP observed score (p < 0.05). The interaction effects (time × group) demonstrated significant differences in favour of the SAFE early intervention group for the general processing score, auditory processing score, tactile processing score and total score of the ITSP 2 (p < 0.05). CONCLUSIONS: The SAFE early intervention approach enhanced motor and sensory outcomes and provided a more enriched home environment than the NDT-based home programme. It was concluded that neurodevelopmental improvement will be achieved with the SAFE early intervention approach in the early period in at-risk infants. TRIAL REGISTRATION: NCT06361134.

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42. Yin H, Ankers M, Bell A, Parry YK, Willis E. Investigating Developmental Status of Children Aged 0-5 Years and Its Association With Child Gender, Family Background and Geographic Locations in Australian Community-Based Early Learning Centres. Child Care Health Dev. 2025; 51(4): e70097.

BACKGROUND: Early childhood plays a vital role in long-term outcomes such as health, learning, behaviour and wellbeing. Evidence shows that developmental screening of children aged 0-5 years is currently inadequate and understanding of key factors influencing child development in the years before school remain limited. This study aimed to examine the associations between a child’s age, gender, family background, remoteness of residence, community socio-economic level and developmental status. METHODS: This study analysed data from a Paediatric Nurse Practitioners and Registered Nurses-led initiative, which offered Child Health Development Checks and referral support, for children attending Australian early learning centres from August 2022 to August 2023. The Brigance Screen III packages were used to do the child development screening, which assessed three domains for children aged 0-2 and five domains for those aged 2-5. Data from 1002 children (convenience sampling with children who attended the early learning centres) were included; univariable and multivariable logistic regression models and chi-square tests were performed. RESULTS: After controlling for other explanatory variables, children aged 2-3, were approximately six times more likely to have developmental concerns in language and self-help domains (p < 0.05, p < 0.001), when compared to children aged 5. Boys were around twice as likely to have developmental concern in academic and self-help domains (p < 0.01). Children from culturally and linguistically diverse backgrounds were approximately two to three times more likely to have developmental concerns in language and social-emotional domains (p < 0.01, p < 0.001). Children living in mid-level socio-economic communities were more than twice as likely to have developmental concerns in academic domains, when compared to children living in most advantaged areas (p < 0.05). CONCLUSIONS: This study suggests that male children, those from culturally and linguistically diverse backgrounds, or children from mid-level socio-economic communities may be at higher risk of experiencing developmental concerns.

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43. Yuen WY, Lim TSH, Karthik SV, Lim YY, Teo EM, Chan YH, Shen L, Mulay KV. Rising Rates of Obesity Amongst Children on the Autism Spectrum During the COVID-19 Pandemic. Nutrients. 2025; 17(10).

Background: The COVID-19 pandemic has been associated with rising obesity rates. Autistic children have a higher risk of obesity than neurotypical children. Our study aims to describe the changes in overweight/obesity rates in autistic children during the pandemic, and to identify contributing factors. Methods: This is a retrospective case record review of patients with a clinical diagnosis of autism, who were seen at a developmental-behavioral pediatrics clinic in a tertiary academic hospital, between 1 January 2019 and 24 October 2021. We compared the average monthly rates of overweight/obese status pre- and during the pandemic. We collected data on the patients’ and parents’ demographics, duration of screen time per day, degree of difficulties related to autism symptoms and cognition. We analyzed factors associated with being overweight/obese during the pandemic. Results: 1330 patient visits were included. The mean age was 45.4 months; 78% were male; 52% were Chinese. The average monthly rate of overweight/obese status increased by 1.8% during the pandemic (17.9% pre-pandemic; 19.7% during pandemic). Factors associated with being overweight/obese during the pandemic included: Malay ethnicity (OR 2.321, p < 0.01), developmental delay (OR 2.80, p < 0.01), and lower parental education level (father OR 1.73, p = 0.01; mother OR 1.63, p = 0.03). On multivariate analysis, only Malay ethnicity (OR 2.95, p = 0.01) was significant. Conclusions: Our study demonstrates a rising overweight/obesity rate amongst children with autism spectrum disorder during the pandemic. It also identified higher-risk patient profiles (Malay race, developmental delay, lower parental education). We hope this will facilitate the implementation of preventative health measures specifically supporting the high-risk children.

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