Pubmed du 27/08/25

Pubmed du jour

1. Alperovich M, Almeida MN, Long AS. Reply: Risk of Attention-Deficit/Hyperactivity Disorder, Autism Spectrum Disorder, and Executive Function Impairment in Metopic Craniosynostosis. Plast Reconstr Surg. 2025; 156(3): 441e-2e.

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2. Arvidsson O, Brikell I, Larsson H, Lichtenstein P, Kuja-Halkola R, Johnson M, Gillberg C, Lundström S. Corrigendum to « ASD and ADHD symptoms in 18-year-olds – A population-based study of twins born 1993 to 2001 ». Psychiatry Res. 2025: 116656.

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3. Augusto JAO, Caravieri CK, Arduini RG, Brunoni D, Ciasca SM, Teixeira M. Delayed diagnosis in children with autism spectrum disorder or intellectual disability. Dement Neuropsychol. 2025; 19: e20240279.

In the developing countries, there is a long delay between parents’ first concerns and the diagnosis of neurodevelopmental disorders such as autism spectrum disorder (ASD) and intellectual disability (ID). OBJECTIVE: To verify the time interval between the first concerns reported by parents and the diagnosis of ASD and ID in a pediatric neurology outpatient clinic in the public health network in Brazil, and to verify any association between indicators of cognitive functioning and behavioral and emotional problems. METHODS: One hundred and six children diagnosed with ID (n=69) and ASD (n=37), with a mean age of 10.03 years; standard deviation (SD)=2.2. The inclusion criteria were diagnoses of ID and ASD, and the exclusion criteria were comorbid conditions such as attention-deficit/hyperactivity disorder and specific learning disorder. RESULTS: The mean age of reported first symptoms was 29.9 months (SD=19.5) for ASD and 37.9 months (SD=19.5) for ID; and the mean time from first concerns to diagnosis of ID was 6.8 years (SD=2.2) and 6.6 years (SD=2.7) for ASD. Children with ID scored significantly lower than those with ASD cognitive functioning (t [97]=-16.22, p<0.001). Children with ID had higher mean scores for externalizing problems (M=62.20; SD=11) and those with ASD had higher mean scores for internalizing problems (M=66.71; SD=10.01). CONCLUSION: The results indicated a late diagnosis in the sample and, given the mental health care received, the data highlight the need for training primary care professionals to identify and diagnose ASD and ID at an early stage.

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4. Choi B, Lee H, Kuhn L, Kim J, Hong SJ, Di Martino A, Gozzi A, Lombardo MV, Morrison FJ, Lord C, Kim SH. Executive function predicts academic and social skills in autistic kindergartners based on a multimodal approach. J Child Psychol Psychiatry. 2025.

BACKGROUND: Executive functions (EF) are cognitive processes that underlie goal-directed abilities and behaviors which have been found to be variable in autistic children. While EFs are well-established predictors of academic and social outcomes in neurotypical children, it is unclear if these same associations are true for children with autism spectrum disorder (ASD). This study examined the relation between EF and academic and social skills in cognitively able, verbal kindergarteners with ASD, while using a multimeasurement approach to EF skills. METHODS: Participants included 67 autistic children aged 4-6 years longitudinally followed from kindergarten entry to exit. Children’s EF was measured using a multimodal assessment approach with a computerized EF battery, behavioral observation, and parent report. Academic achievement and social skills were evaluated through a standardized assessment and parent report, respectively. Multiple regression models were conducted to explore the associations of EF with academic and social outcomes, while controlling for key demographic factors (e.g. age, sex, nonverbal IQ). RESULTS: EF, measured through the computerized battery, was significantly associated with math achievement when controlling for age, sex, and nonverbal IQ, both concurrently and longitudinally. EF difficulties, as reported by parents, were closely linked to current and later parent-reported peer play challenges. CONCLUSIONS: These findings indicate that EF may be critical foundational skills for school success in young autistic children at school transition. Therefore, targeted EF interventions could be a powerful way to optimize academic and social development in autistic kindergarteners. The results also highlight the importance of a multimeasurement approach to EF assessment, as it provides a more comprehensive understanding of the broader impact of EF on key developmental outcomes in ASD.

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5. Farmer C, Giserman-Kiss I, Mohanty E, Valluripalli Soorya L, Sahin M, Kolevzon A, Buxbaum JD, Berry-Kravis E, Powell CM, Bernstein JA, Thurm A. Retrospective Reports of Skill Attainment and Loss in Phelan-McDermid Syndrome. Am J Intellect Dev Disabil. 2025; 130(5): 362-79.

Phelan-McDermid syndrome (PMS) is a genetic condition associated with profound neurodevelopmental disabilities. This study described patterns of onset and loss of developmental milestones and associated skills using questionnaire data from the PMS International Registry (N = 374) and clinician-led assessment data from the Developmental Synaptopathies Consortium natural history study (N = 207). Across studies, an overwhelming proportion of people with PMS were reported to have delays in acquiring basic skills, and regression or loss of skills was commonly reported across multiple developmental domains, including some after the age of 10. The current descriptive study synthesizes two complementary data sources showing loss occurring in the context of significant delays and frequent lack of milestone attainment in people with PMS. Further work to elucidate mechanisms is needed.

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6. Farmer C, Thurm A, Das T, Bebin EM, Bernstein JA, Berry-Kravis E, Buxbaum JD, Eng C, Frazier T, Hardan AY, Kolevzon A, Krueger DA, Martinez-Agosto JA, Northrup H, Powell CM, Valluripalli Soorya L, Wu JY, Sahin M. Which Score for What? Operationalizing Standardized Cognitive Test Performance for the Assessment of Change. Am J Intellect Dev Disabil. 2025; 130(5): 344-61.

Developmental domains, such as cognitive, language, and motor, are key concepts of interest in longitudinal studies of intellectual and developmental disabilities (IDD). Normative scores (e.g., IQ) are often used to operationalize performance on standardized tests of these concepts, but it is the interval-distributed person-ability scores that are intended for the assessment of within-individual change. Here we illustrate the use and interpretation of several Stanford Binet, 5th Edition score types (IQ, extended IQ, Z-normalized raw score, developmental quotient, raw sum score, age equivalent, and ability score) using data from two longitudinal studies of rare genetic conditions associated with IDD. We found that, although normality assumptions were tenuous for all score types, floor effects led to model unsuitability for longitudinal analysis of most types of norm-referenced scores, and that the validity of interpretation with respect to individual change was best for ability scores.

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7. Fluegge K, Fluegge K. Comment on Frye et al. Air Pollution and Maximum Temperature Are Associated with Neurodevelopmental Regressive Events in Autism Spectrum Disorder. J. Pers. Med. 2022, 12, 1809. J Pers Med. 2025; 15(8).

Frye et al. […].

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8. Frye RE. Reply to Fluegge, K.; Fluegge, K. Comment on « Frye et al. Air Pollution and Maximum Temperature Are Associated with Neurodevelopmental Regressive Events in Autism Spectrum Disorder. J. Pers. Med. 2022, 12, 1809 ». J Pers Med. 2025; 15(8).

I would like to thank Fluegge and Fluegge for their comments on our study which identified air pollution and maximum temperature as potential environmental factors associated with neurodevelopmental regression (NDR) in children with autism spectrum disorder (ASD) […].

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9. Higuchi Y, Ozawa A, Kobayashi R, Konno T, Arakawa H. Functional disruption of oxytocin projections participates atypical social and anxiety-like behaviours in BTBR mouse model of autism. Open Biol. 2025; 15(8): 240387.

Oxytocin (OXT) neurons in the paraventricular nucleus of the hypothalamus (PVN), which send projections to the medial amygdala (MeA) and the bed nucleus of the stria terminalis (BnST), are implicated in regulation of prosocial-emotional behaviours and abnormalities resembling autism spectrum disorders (ASD). Compared with standard C57BL6J (B6) mice, BTBR mice, a behaviour-based ASD model, exhibited decreased densities of OXT(PVN) neurons and attenuated OXT neuronal responses to a social encounter. OXT receptor mRNA expressions in the MeA and BnST as a response to a social encounter were blunted in BTBR mice. OXT promoter retrograde viral tracing revealed that the OXT(PVN→BnST) projections were defective in those BTBR mice. Thus, chemogenetic excitation of OXT(PVN→MeA) neurons using OXT promoter adeno-associated viruses (AAV) enhanced anxiety-like behaviour and facilitated social investigation in both strains, while excitation of OXT(PVN→BnST) neurons attenuated anxiety-like behaviour along with social investigation in B6 mice and failed to induce a change in their socio-emotional behaviours in BTBR mice. Altogether, OXT circuits serve as a key regulator for socio-emotional behaviour; MeA-OXT projection facilitates social investigation and anxiety-like behaviour, while BnST-OXT projection conversely attenuates these behaviours; hence a defect of the OXT(PVN→BnST) circuits contributes to the development of ASD-like social phenotypes in BTBR mice.

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10. Lam HW, Song X, Lau KH, Chan SM, So WC. Heterogeneity in the Resilience Intervention Receptiveness in Chinese Parents of Autistic Children. J Autism Dev Disord. 2025.

Chinese parents of autistic children experience elevated stress. However, the number of resilience interventions is limited. In this study, we aimed to examine the efficacy of an 8-week resilience-focused group intervention. In this quasi-experimental study, 92 Chinese parents of autistic children assigned to the intervention condition and 51 wait-list control. We evaluated the effectiveness of resilience-focused intervention using ANOVAs. Then, a cluster analysis was performed to identify subgroups of Chinese parents to examine whether the effectiveness of the intervention differed among those clusters and the factors accounting for these variations. There was no overall significant improvement in the parents’ resilience after intervention but there were individual variations in their intervention outcomes. Four clusters were identified. Cluster 1 featured parents in with moderate levels of family quality of life, parental stress, and child behavioral problems. Clusters 2 and 4 had similarly high levels of satisfaction with their family quality of life, and relatively low parental stress. Cluster 3 represented the most troubled parents and had the lowest level of family quality of life, the highest parental stress, and the most child behavioral problems. Cluster 1 but not others benefited from our resilience intervention. It is recommended that interventions be allocated to the most receptive target groups or tailor made for different parent profiles to maximize the effectiveness.

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11. Levy T, Farmer C, Srivastava S, Johnson K, Trayvick J, Brune C, Massa A, Silver H, Siper PM, Zweifach J, Halpern D, Foss-Feig JH, Bernstein JA, Berry-Kravis E, Powell CM, Sahin M, Soorya LV, Thurm A, Buxbaum JD, Kolevzon A. Genetic Subtypes of Phelan-McDermid Syndrome Exhibit Similar Rates of Change Despite Differences in Level of Impairment in Developmental Constructs. Am J Intellect Dev Disabil. 2025; 130(5): 395-413.

The clinical spectrum of Phelan-McDermid syndrome (PMS) is varied, with wide-ranging degrees of intellectual disability, developmental delays, behavioral abnormalities, and medical features. Different types of genetic variation lead to PMS, and differing genotypes (e.g., size of deletion or type of variant) account for some of this variability, with strong associations between genotype and phenotype observed with degree of intellectual disability and presence of specific medical features such as renal abnormalities. To date, no studies have assessed how genotype is associated with the natural history of developmental or behavioral features in PMS over time. Here, we report on longitudinal data in developmental and behavioral domains from 154 individuals with PMS, comparing those with Class 1 (minimal) deletions, Class 2 deletions, and sequence variants, assessing both within-subject (individual change over time) and between-subject (across age) differences. Consistent with previous results, average scores per group differed in most adaptive and developmental domains, with individuals with Class 1 deletions performing best, followed by individuals with Class 2 deletions and sequence variants, who often performed similarly. However, in most domains of adaptive behavior, intellectual functioning, and behavioral features, genetic groups did not differ in their rate of change over time or in differences in scores across ages. Exceptions, notably in expressive language, existed. These results suggest that, although genotype may be related to overall degree of impairment, individuals with PMS, regardless of genotype, tend to have a similar rate of change over time and age in developmental and behavioral domains. A significant caveat is that sequencing is a relatively recent diagnostic approach, which will bias the results.

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12. Lin L, Lai Y, Mei A, Chen Y, Lin F. Restoring Retinoic Acid: Alleviating Autism-Like Behaviors in Sox5-Deficient Mice. Neurosci Bull. 2025.

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13. Mishra AP, Marrelli LM, Bonner-Reid FT, Shekhawat P, Toney R, Benipal IK, Dias HA, Kandi A, Siddiqui HF. Gut-Brain Axis: Understanding the Interlink Between Alterations in the Gut Microbiota and Autism Spectrum Disorder. Cureus. 2025; 17(7): e88579.

Autism spectrum disorder (ASD) is an umbrella term used for a complex neurobehavioral disorder. ASD is a multifactorial condition, with significant roles played by environmental, immunological, and genetic factors. The microbiota-gut-brain axis has been implicated in the pathophysiology of ASD in recent years. This review article aims to explore the correlation between gut dysbiosis and autism, and its potential impact on management strategies. Gastrointestinal (GI) symptoms, including diarrhea, constipation, and bloating, are prevalent among children with ASD. These disorders are commonly linked to increased behavioral symptoms, such as social disengagement, anxiety, and irritability. Increased gut permeability, attributable to gut dysbiosis, plays a significant role in disrupting the gut-brain axis, which is coordinated by neurological, immunological, and endocrinological routes. Elevated levels of inflammatory cytokines, changes in the generation of neurotransmitters, and disturbances in gut-derived metabolites are all considered direct consequences of dysbiosis. Treatment options, including probiotics, prebiotics, fecal microbiota transplantation (FMT), and dietary changes, have shown promising results. However, the effectiveness and long-term safety of these therapies are still being studied. It is imperative to explore this perplexing interaction through further research to encourage clinicians to adopt therapeutic approaches targeting the gut microbiota in patients with ASD.

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14. Monti M, Molholm S, Foxe JJ, Cuppini C. Is Competition the Default Configuration of Cross-Sensory Interactions?. Eur J Neurosci. 2025; 62(4): e70233.

Several theories have been proposed about the default configuration of the brain’s networks underlying unisensory and multisensory processing abilities and the development of multisensory integration during childhood. Recent empirical findings from animal models and behavioral data collected from typically developing (TD) children and children with autism spectrum disorder (ASD), however, are consistent with the idea that in the immature brain, prior to systematic cross-sensory exposures typically encountered in everyday life, the individual sensory systems interact in a competitive manner. Which neural architecture and mechanisms best describe the brain’s naïve configuration are still unknown. To fill this gap, this study investigates how sensory modalities interact in the young brain by comparing the predictions of two alternative biologically plausible neuro-computational models to empirical data. The neural substrates responsible for the altered development of multisensory integrative processes observed in ASD children are also investigated. Linking the framework suggested by empirical data to a plausible neural implementation, our results challenge the classical notion of cross-sensory brain organization at birth, whereby the various sensory pathways do not initially interact. Instead, we suggest that direct inhibitory interactions between sensory modalities are taking place in the immature brain, and we suggest that these inhibitory interactions play a crucial role in the altered multisensory perceptual abilities of children with autism.

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15. Pearson H. Autism is on the rise: what’s really behind the increase?. Nature. 2025; 644(8078): 860-3.

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16. Smith K, Whittingham L, Tarzi G, Lunsky Y. All teach, all learn: transdisciplinary health professional education on care for persons with intellectual/developmental disabilities. Adv Health Sci Educ Theory Pract. 2025.

People with intellectual and developmental disabilities experience many barriers to healthcare. To address these barriers and the unique needs of this population, improved training and education for health providers, particularly training that includes persons with lived experience and that teaches interprofessional collaboration, are needed. This study applied a framework to examine the value identified in reflections of program educators for a three-week Extension for Community Health Outcomes for Adults with Intellectual and Developmental Disabilities (ECHO-AIDD for Students) program to teach an interprofessional group of students from health and social care disciplines about caring for persons with intellectual and developmental disabilities. The learning activities associated with the ECHO-AIDD for Students provided immediate value for educators and students. The potential value of participation was highlighted through the development of knowledge capital, particularly the social capital associated with connecting with an interprofessional group of students and educators. Applied and realized value was suggested by embracing a humble epistemology, recognizing the wisdom provided by all participants, and the flattening of social and professional hierarchies experienced by participants. Finally, reframing value was noted by recognizing that ECHO-AIDD for Students was a vibrant collective learning approach for interprofessional education. The three-week ECHO-AIDD for Students is a valuable opportunity for health and social care students to learn about adults with intellectual/developmental disabilities. These results also suggest that the ECHO model can be a platform for teaching health professionals how to engage in transdisciplinary practices recommended for effective healthcare.

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17. Taweesedt PT, Chick CF, Kawai M. Theta Activity at Sleep Onset in Children with Autism Spectrum Disorder. J Autism Dev Disord. 2025.

Despite the enormous clinical relevance of disordered sleep to autism spectrum disorder (ASD), to date, few studies have employed objective measures of sleep architecture in ASD. Previous studies have identified an association between slow wave activity in electroencephalography (EEG) at sleep onset and daytime cognitive and affective functioning in other neuropsychiatric disorders. However, it is unknown whether slow wave activity, particularly Theta activity, at sleep onset is present more in ASD and whether it is related to daytime functioning. We used polysomnography (PSG) to investigate the presence of Theta activity at sleep onset in 60 children and adolescents aged 5.6-18.3 years old with ASD and 70 typically developing controls (TD). We performed visual analysis of PSG to identify bursts of theta activity at sleep onset (TASO) and examined its association with cognition, affect, and daytime behavior in children with ASD. TASO was more prevalent in ASD participants (30%) compared to controls (6%). The TASO (+) group scored significantly worse on the affect recognition test with a large effect size (18.6 (8.0) vs. 23.5 (5.5), t = 2.30, p = 0.027, d = 0.75). TASO was not associated with any other cognitive or affective measures; however, there was a trend toward association with worse daytime behavior. Our findings identify TASO as a feature of objective sleep in children with ASD, and provide a potential mechanism underlying previous reports of an association between poor sleep and ASD symptom severity, especially social cognition.

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18. Vallese A, Melija S, Hayek J, Pecorelli A, Valacchi G. Deregulated Nrf2-Keap1-BACH1 axis in autism spectrum disorder. Redox Biol. 2025; 86: 103837.

Autism Spectrum Disorder (ASD) is a group of neurodevelopmental disorders characterized by impairments in social communication, restricted interests, and repetitive behaviors. Although its etiology remains incompletely understood, increasing evidence suggests a multifactorial origin involving genetic alterations, immune dysregulation, and environmental exposures. The aim of this study was to investigate the redox-sensitive Nrf2 signaling pathway in primary dermal fibroblasts isolated from ASD patients. Our results revealed constitutive activation of Nrf2, accompanied by reduced expression of its downstream target heme oxygenase-1 (HO1) and marked nuclear accumulation of the transcriptional repressor BACH1 in ASD cells. Moreover, ASD fibroblasts failed to increase Nrf2 nuclear translocation upon sulforaphane (SFN) stimulation, a response consistent with elevated basal levels of Keap1, a negative regulator that sequesters Nrf2 in the cytoplasm. Notably, treatment with hemin, known to induce nuclear export and degradation of BACH1, successfully restored HO1 gene and protein expression and ameliorated impaired mitochondrial function in ASD fibroblasts, as suggested by the decrease of mtROS levels and the restored mitochondrial membrane potential. Collectively, these results identify a dysregulation of the Nrf2-Keap1-BACH1 axis in ASD and suggest that pharmacological targeting of this pathway may offer therapeutic potential to correct the redox imbalance associated with the disorder.

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19. Valluripalli Soorya L, Brune CW, Farmer CA, Ocampo EV, Berger NI, Pearson DA, Busch RM, Klaas P, Siper P, Currans K, Gulsrud AC, Phillips JM, Filip-Dhima R, O’Kelley SE, Frazier TW, Levy T, Wainer AL, Buxbaum JD, Powell CM, Bernstein JA, Warfield SK, Krueger DA, Bebin EM, Northrup H, Jeste SS, Kolevzon A, Berry-Kravis E, Sahin M, Srivastava S, Thurm A. Characterizing Developmental and Behavioral Profiles in Developmental Synaptopathies to Inform Clinical Trial Endpoints. Am J Intellect Dev Disabil. 2025; 130(5): 414-37.

The Developmental Synaptopathies Consortium is a multisite natural history network studying rare, neurogenetic syndromes associated with synaptic dysfunction and developmental delays. One aim of the Consortium is clinical trial readiness, including identifying clinical concepts and validating their measurement. We evaluated the scope and limitations of conventional cognitive and behavioral measurement strategies in 2-21-year-olds with Phelan-McDermid syndrome (PMS; N = 98), Tuberous Sclerosis Complex (TSC; N = 98), and PTEN Hamartoma Tumor syndrome (PHTS; N = 69). On average, intellectual disability (ID) severity was severe-to-profound in PMS, mild-to-moderate for TSC, and borderline (or absent) in PHTS. Severity of ID invalidated the use of many assessments, including standardized autism diagnostic measures. These results will inform trial planning for these and other similarly medically complex neurodevelopmental conditions.

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20. Wiggins LD, DiGuiseppi C, Overwyk K, Barger B, Dichter G, Durkin M, Hightshoe K, Moody E, Nadler C, Powell P, Reyes N, Thompson-Paul AM, Anderson KN. Adverse Childhood Experiences and Behavioral and Emotional Problems in Adolescents With and Without Autism. J Dev Behav Pediatr. 2025.

OBJECTIVES: We sought to examine differences in caregiver-reported adverse childhood experiences (ACEs) in adolescents with and without autism and explore associations between ACEs and behavioral and emotional problems in those with ACEs. METHODS: Children were classified as having autism, another developmental disability (DD), or population comparison (POP) after a comprehensive evaluation in the Study to Explore Early Development (SEED) between 2 to 5 years of age. Caregivers of these same children completed the SEED Teen survey and answered questions about ACEs and current behavioral and emotional problems at 12 to 16 years of age. RESULTS: Adolescents with autism (n = 198) and other DD (n = 330) were more likely than POP (n = 330) to experience income insufficiency (29.8%, 25.2%, and 12.2%, respectively) and parental divorce (29.3%, 25.7%, and 18.4%, respectively) (all p < 0.05). Living with someone with an alcohol or drug problem was associated with conduct problems only in adolescents with autism; living in a family that received financial assistance was associated with hyperactivity problems only in adolescents with other DD. Living with anyone experiencing mental illness, suicidality, or severe depression was associated with conduct and emotional problems in all 3 study groups. CONCLUSION: Families of children with atypical development may need more financial and emotional/marital support than others. Moreover, adolescents with autism and other DD could benefit from behavioral supports in response to a few specific ACEs while addressing household mental health problems could have widespread benefits that improve pediatric health. These findings can be used to encourage evidence-based programs and practices to prevent ACEs and offer supports when needed.

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21. Xu X, Li Y, Lan H, Ding N, Li W, Zheng G, Song X. Quantitative susceptibility mapping shows alterations of brain iron content in children with autism spectrum disorder: a whole-brain analysis. BMC Psychiatry. 2025; 25(1): 826.

BACKGROUND: Iron deficiency in subcortical structures has been reported in previous studies using manually drawn regions of interest (ROIs). However, no whole-brain iron content studies in individuals with autism spectrum disorder (ASD) have been published. This study aimed to explore whole-brain iron content in ASD children using quantitative susceptibility mapping (QSM) and to examine relationships between clinical features of ASD and regional susceptibility values. METHODS: A total of 30 ASD children and 28 typically developing (TD) individuals who were matched for age and sex were prospectively recruited. Brain MRI scans were performed on each participant. Each brain region’s susceptibility value was compared between groups, and correlations with clinical manifestations were examined. RESULTS: The ASD patients showed significantly higher susceptibility values than TD children in the bilateral middle temporal gyrus, left inferior temporal gyrus, left inferior parietal gyrus, right lateral occipital gyrus, right insula, and bilateral rostral anterior cingulate gyrus. Conversely, significantly lower susceptibility was observed in the right cerebral white matter of ASD children. According to correlation analysis, susceptibility values in the left middle temporal gyrus, left inferior parietal gyrus, and right lateral occipital gyrus were negatively correlated with the Gesell Developmental Schedules (GDS) gross motor scores in the ASD group. CONCLUSIONS: ASD children had aberrant susceptibility values in cortical areas, and these abnormalities might be associated with their clinical features, which may provide new insights into understanding the pathophysiology of ASD.

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22. Zafar S, Griffiths M, Hartfiel E, Malawkin A, Lopez-Silva C. Specialists’ Perspectives on Social Stories in Managing Individuals With Autism in the Dental Care Setting. Spec Care Dentist. 2025; 45(4): e70085.

AIMS: To investigate and compare the experiences of specialists in pediatric and special care dentistry (SCD) using social stories as a management tool in the dental treatment of individuals on the autism spectrum METHODS: A 34-item online questionnaire was designed and distributed to specialists in Queensland. Univariate data were analyzed and graphed. RESULTS: A response rate of 62% was achieved. Results showed that 72% of participants agreed with the statement that « social stories are useful when treating patients with autism. » More respondents reported using paper-based social stories (44%) than app-based (33%); however, 61% of participants responded they were more likely to use an app-based social story when given the choice. There was no statistically significant association between perception of social story usefulness and type of specialty (p = 0.627). As autism level of support increased, there was a decrease in perceived benefits of social stories (94% for ASD level 1 vs. 44% for ASD level 3). CONCLUSION: This study showed that both Queensland specialists in pediatric dentistry and SCD find social stories to be a useful tool in the management of patients with autism. Further research would enable greater insights into the perception of social stories among dental specialists across Australia.

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23. Zhang L, Guan X, Wang D, Wang J, Liu X, Liu S, Ming D. Understanding face processing in autism spectrum disorder: insights from cognitive neuroscience. Cogn Neurodyn. 2025; 19(1): 137.

Faces convey critical information for social communication, such as identity, expression, and eye gaze. Unfortunately, individuals with autism spectrum disorder (ASD) often experience difficulties in processing this information, and these deficits lead to their suffering from social interactions. Importantly, since face processing is a social skill developed during early childhood, its deficits may be an early symptom of ASD. In recent years, researchers have made great progress in identifying face processing impairments in individuals with ASD and exploring their biological underpinnings. In this paper, we reviewed the research progress on face processing impairments in individuals with ASD. Moreover, we mainly summarized the mechanisms proposed to underlie these impairments, including the changes in brain structure and function, atypical social cognition, and genetic variation. Finally, we discussed the factors leading to the inconsistent results of existing studies. Focused efforts to research the alterations and mechanisms of face processing might improve our knowledge of this complex, heterogeneous neurodevelopmental disorder. The ultimate purpose is to help clinical diagnosis and treatment, thereby improving the function of individuals with ASD.

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24. Zhou Y, Chen Y, Wang P, Zhang K, Zhang Y. Causal associations between schizophrenia and other psychiatric disorders: A Mendelian randomization study. J Int Med Res. 2025; 53(8): 3000605251369855.

ObjectiveSchizophrenia is a globally prevalent complex neuropsychiatric disorder that is frequently comorbid with various psychiatric disorders, leading to poor prognoses for affected patients. However, the causal relationships between schizophrenia and these comorbid disorders remain unclear.MethodsWe utilized Mendelian randomization to investigate the causal effects of schizophrenia on eight psychiatric disorders, including alcohol use disorder, anorexia nervosa, anxiety disorders, attention-deficit hyperactivity disorder, autism spectrum disorders, bipolar disorder, depression, and obsessive-compulsive disorder, using data from the Psychiatric Genomics Consortium and other extensive Genome-Wide Association Studies. We employed the inverse variance-weighted method as the primary analysis, complemented by Mendelian randomization-Egger, weighted median, Mendelian randomization-Presso, Steiger filtering, leave-one-out sensitivity analysis, and reverse Mendelian randomization to address potential biases and validate the directionality of the causal relationships.ResultsOur analysis revealed that a genetically predicted one-log unit increase in schizophrenia risk was associated with a 70.7% increase in the odds of bipolar disorder (odds ratio: 1.707, 95% confidence interval: 1.58-1.84). We also found strong evidence regarding a causal relationship of schizophrenia with autism spectrum disorders, showing a 17.4% higher odds (odds ratio: 1.174, 95% confidence interval: 1.11-1.24). Additionally, schizophrenia conferred a 14.5% elevated risk of alcohol use disorder (odds ratio: 1.145, 95% confidence interval: 1.09-1.21), while a statistically significant yet clinically marginal association was observed with depression (odds ratio: 1.004, 95% confidence interval: 1.003-1.006). No causal relationships were detected between schizophrenia and attention-deficit hyperactivity disorder, anorexia nervosa, anxiety disorders, or obsessive-compulsive disorder. Sensitivity analyses reinforced these findings, and reverse Mendelian randomization analyses provided no evidence of reverse causal impacts on schizophrenia from the disorders examined.ConclusionThese findings confirm schizophrenia as a significant genetic risk factor for bipolar disorder, autism spectrum disorders, and alcohol use disorder. Our findings enhance understanding of the interrelationships among psychiatric disorders and offer novel insights into the clinical diagnosis and management of psychiatric comorbidities.

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