1. Abuljadayel D, Alotibi A, Algothmi K, Basingab F, Alhazmi S, Almuhammadi A, Alharthi A, Alyoubi R, Bahieldin A. Gut microbiota of children with autism spectrum disorder and healthy siblings: A comparative study. Exp Ther Med;2024 (Nov);28(5):430.

Autism spectrum disorder (ASD) is a neurodevelopmental abnormality that impairs social communication. The human gut microbiome (GM) influences a variety of local processes, including dysbiosis and the defense against pathogenic microorganisms. The aim of the present study was to categorize and identify molecular biomarkers for ASD. In the present study, metagenomics whole genome shotgun sequencing was used to identify the gut microbiota in autistic individuals. Fecal samples from four children with ASD and four healthy control siblings, aged 3-10 years old, were examined using bioinformatics analysis. A total of 673,091 genes were cataloged, encompassing 25 phyla and 2 kingdoms based on the taxonomy analysis. The results revealed 257 families, 34 classes, 84 orders, and 1,314 genera among 4,339 species. The top 10 most abundant genes and corresponding functional genes for each group were determined after the abundance profile was screened. The results showed that children with ASD had a higher abundance of certain gut microbiomes than their normal siblings and vice versa. The phyla Firmicutes and Proteobacteria were the most abundant in ASD. The Thermoanaerobacteria class was also restricted to younger healthy individuals. Moreover, the Lactobacillaceae family was more abundant in children with ASD. Additionally, it was discovered that children with ASD had a higher abundance of the Bacteroides genus and a lower abundance of the Bifidobacterium and Prevotella genera. In conclusion, there were more pathogenic genera and species and higher levels of biomass, diversity and richness in the GM of children with ASD.

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2. Arda DB, Tunç KC, Bozkurt MF, Bora ES, Çiğel A, Erbaş O. Intranasal Insulin Eases Autism in Rats via GDF-15 and Anti-Inflammatory Pathways. Curr Issues Mol Biol;2024 (Sep 20);46(9):10530-10544.

In rat models, it is well-documented that chronic administration of propionic acid (PPA) leads to autism-like behaviors. Although the intranasal (IN) insulin approach is predominantly recognized for its effects on food restriction, it has also been shown to enhance cognitive memory by influencing various proteins, modulating anti-inflammatory pathways in the brain, and reducing signaling molecules such as interleukins. This study seeks to explore the potential therapeutic benefits of IN insulin in a rat model of autism induced by PPA. Thirty male Wistar albino rats were categorized into three cohorts: the control group, the PPA-induced autism (250 mg/kg/day intraperitoneal PPA dosage for five days) group, treated with saline via IN, and the PPA-induced autism group, treated with 25 U/kg/day (250 µL/kg/day) insulin via IN. All treatments were administered for 15 days. After behavioral testing, all animals were euthanized, and brain tissue and blood samples were collected for histopathological and biochemical assessments. Following insulin administration, a substantial reduction in autism symptoms was observed in all three social behavior tests conducted on the rats. Moreover, insulin exhibited noteworthy capabilities in decreasing brain MDA, IL-2, IL-17, and TNF-α levels within autism models. Additionally, there is a notable elevation in the brain nerve growth factor level (p < 0.05) and GDF-15 (p < 0.05). The assessment of cell counts within the hippocampal region and cerebellum revealed that insulin displayed effects in decreasing glial cells and inducing a significant augmentation in cell types such as the Purkinje and Pyramidal cells. The administration of insulin via IN exhibits alleviating effects on autism-like behavioral, biochemical, and histopathological alterations induced by PPA in rats. Insulin-dependent protective effects show anti-inflammatory, anti-oxidative, and neuroprotective roles of insulin admitted nasally.

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3. Arroyo HA, Foti M. [The impact of congenital heart disease on neurodevelopment]. Medicina (B Aires);2024 (Sep);84 Suppl 3:50-55.

It is estimated that about 1 in 100 live births has a congenital heart disease (CHD). Cognitive deficit, academic difficulties, and behavioral abnormalities, in combination, represent the most common morbidity affecting quality of life in survivors with CHD. Developmental dysfunction results from a complex interaction between patient-specific factors such as genetic susceptibility, cardiac diagnosis, fetal development, and environmental factors such as preoperative events, supportive techniques during surgical repair, postoperative events, socioeconomic status. A comprehensive neurodevelopmental assessment in all children with CHD is critical to identify any need for intervention early and provide the support needed to optimize their long-term development.

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4. Breider S, de Bildt A, Greaves-Lord K, Dietrich A, Hoekstra PJ, van den Hoofdakker BJ. Parent Training for Disruptive Behaviors in Referred Children with Autism Spectrum Disorder: A Randomized Controlled Trial. J Autism Dev Disord;2024 (Sep 27)

The purpose of this study was to investigate whether face-to-face and therapist-assisted online (i.e., blended) behavioral parent training are effective on reducing disruptive behaviors in children with autism spectrum disorder (ASD) in routine mental health care. Ninety-seven children with ASD (4-13 years; 76 boys) were randomized to face-to-face parent training, blended parent training, or a waitlist control condition. We assessed treatment effects on parent-rated child noncompliance (primary outcome) and irritability (secondary outcome). This involved comparing both formats separately to the control condition using linear regression models. Child behaviors at 6 months follow-up were also examined. Children in the face-to-face parent training condition improved significantly more on noncompliance and irritability than children in the waitlist condition and improvements sustained to 6 months follow-up. Children in the blended condition did not improve more than children in the waitlist condition and attrition was high. Our results extend findings from efficacy studies to routine mental health care and advocate the use of face-to-face parent training for disruptive behaviors in children with ASD. More research into blended parent training programs for children with ASD and disruptive behaviors in routine mental health care should be conducted to draw more definite conclusions about the value of blended parent training for these children. Trial registration number NL4712; date of registration 22-10-2014.

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5. Cabal-Herrera AM, Beatty CW. [Rett syndrome: from pathophysiology to developments in treatment]. Medicina (B Aires);2024 (Sep);84 Suppl 3:45-49.

Rett Syndrome (RTT) is a neurodevelopment disorder which primarily affects females and is caused by pathogenic variants in the MECP2 gene. The disease has a characteristic developmental regression resulting in impairment of expressive language, hand skills, and ambulation that is accompanied by hand stereotypies. The goal of this article it to provide an overview of the diagnosis, natural history, and treatment.

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6. Chou HC, Lin HC, Huang KH, Chang YC. Response to « comment on associations between neonatal jaundice and autism spectrum disorder or attention deficit hyperactivity disorder: Nationwide population based cohort study ». J Formos Med Assoc;2024 (Sep 27)

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7. Choueiri R, DeMeo M, Tokatli V, Zhu G, Zhang B. Demographic and socioeconomic characteristics of patients diagnosed with autism through the Rapid Interactive screening Test for Autism in Toddlers. Pediatr Investig;2024 (Sep);8(3):209-214.

We evaluated the integration of the Rapid Interactive screening Test for Autism in Toddlers (RITA-T) model in a community, comparing autism spectrum disorder (ASD) toddlers’ demographic and socioeconomic characteristics. Of 394 ASD toddlers, 323 were screened with RITA-T. Those screened were from more deprived areas, traveled farther and were diagnosed earlier. The model improved the diagnosis of ASD in underserved areas.

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8. Costache ME, Gioia F, Vanello N, Greco A, Lefebvre F, Capobianco A, Weibel S, Weiner L. Exploring Emotion Control and Alexithymia in Autistic Adults: An Ecological Momentary Assessment Study. J Autism Dev Disord;2024 (Sep 27)

Difficulties in controlling emotions – a proxy for emotion dysregulation (ED)-and difficulties in expressing feelings in words-‘absence of emotion labelling’ or alexithymia-co-exist in autism and contribute to elevated levels of impulsive and suicidal behaviour. To date, studies linking the two phenomena have relied on retrospective self-reported measures, lacking support for generalizability to real-life situations. The present study investigated in vivo emotion labelling and its impact on emotion control in 29 autistic adults without intellectual disability (ASC) and 28 neurotypical (NT) individuals of similar age, sex, and educational level. Participants were trained in an Ecological Momentary Assessment (EMA) to label their emotions, the arousal dimension, and their emotion control via smartphone over a one-week period. Findings showed that the ASC group experienced more instances of ‘having an emotion that I cannot name’ and, when they were able to label their emotions, they reported higher rates of negative and conflicting (simultaneously positive and negative) emotions. In both groups, the absence of emotion labelling, and intense negative emotions were associated with impaired emotion control. However, the association between lack of emotional awareness-‘I have no emotion’-and impaired emotion control was only evident in ASC individuals. Our study highlights a nuanced facet of emotional processing in the ASC population. Further research is needed to gain a deeper understanding of the complex relationship between ED and alexithymia in autism.

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9. Gohari D, Schiltz H, Lord C. A Longitudinal Study of Aggression in People with Autism and Other Neurodevelopmental Disabilities. J Autism Dev Disord;2024 (Sep 27)

Aggression is common in autism and neurodevelopmental disorders, but longitudinal research on aggression is lacking. We longitudinally tracked aggression in 254 individuals from toddlerhood to emerging adulthood. Our sample included participants with a range of cognitive abilities, with 39.9% classified as more-cognitively-abled (MCA; IQ ≥ 70) and 60.1% as less-cognitively-abled (LCA; IQ < 70). Aggression Composite scores were derived from data from the autism diagnostic observation schedule, autism diagnostic interview-revised, and child behavior checklist at ages 2, 9, and 18. Fifty-four percent, 69%, and 42% of the sample showed aggression in toddlerhood, school age, and emerging adulthood, respectively. LCA individuals had higher rates of aggression in school age (80%) and emerging adulthood (58%) compared to MCA individuals (48 and 22%, respectively). Longitudinal aggression profiles revealed distinct patterns of change over time: 31% displayed persistent aggression, 25% increased, 23% decreased, and 13% never displayed aggression. Higher autism symptoms, lower VIQ, NVIQ, and less-developed adaptive skills correlated with more aggression cross-sectionally. Nonverbal IQ and repetitive behaviors related to aggression longitudinally: people in decreasing or absent profiles had higher NVIQ and fewer RRBs than those with persistent or increasing profiles. Participants with aggression at 9 were four times likelier to exhibit aggression at 18. Aggression is common in autism and NDDs, peaking around age 9, and declining in emerging adulthood. Patterns of change varied widely, with evidence that higher NVIQ and fewer RRBs may be protective. Findings have implications for clinical practices, highlighting important developmental periods and high-risk subgroups.

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10. Goulding K, Campbell L, Freeman E. Measuring Anxiety in Autistic Children: Assessing the Validity of the Anxiety Scale for Children with Autism Spectrum Disorder. Eur J Investig Health Psychol Educ;2024 (Sep 20);14(9):2542-2559.

The present study assessed the validity of one of the first autism-specific anxiety measures, the Anxiety Scale for Children with Autism Spectrum Disorder (ASC-ASD), and compared its ability to predict parent-reported clinical anxiety to a ‘traditional’ anxiety measure, the Spence Children’s Anxiety Scale (SCAS). Whether the inclusion of the child form for each measure improved the predictive ability of the parent forms was also examined. Eighty-seven parents of autistic children, aged 8-12 years, completed the ASC-ASD, the SCAS, and the Social Communication Questionnaire (SCQ), a screener for autism characteristics. Of these parents, 56 had their child complete the ASC-ASD and SCAS. The children with a reported anxiety diagnosis were rated significantly higher by their parents on both the SCAS and the ASC-ASD compared to the non-anxious children. Pearson’s correlation coefficients indicated that the ASC-ASD had good divergent and convergent validity, as demonstrated by a poor, non-significant correlation with the SCQ and a strong, significant correlation with the SCAS. Regression analyses indicated that while the ASC-ASD was a significant predictor of parent-reported clinical anxiety in autistic children, the SCAS was not. Neither model was improved with the inclusion of the respective child form. This study is the first to demonstrate the ability of the ASC-ASD to predict child clinical anxiety disorder status and adds to the growing body of evidence for the validity of this measure. The findings also suggest that parent reports of anxiety may be sufficient to identify autistic children warranting further clinical investigation of anxiety in this age group.

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11. Jaschke AC, Howlin C, Pool J, Greenberg YD, Atkinson R, Kovalova A, Merriam E, Pallás-Ferrer I, Williams S, Moore C, Hayden K, Allison C, Odell-Miller H, Baron-Cohen S. Study protocol of a randomized control trial on the effectiveness of improvisational music therapy for autistic children. BMC Psychiatry;2024 (Sep 27);24(1):637.

BACKGROUND: Music therapy is the clinical use of musical interventions to improve mental and physical health across multiple domains, including social communication. Autistic children, who have difficulties in social communication and often increased anxiety, tend to show a strong preference for music, because it can be structured and systematic, and therefore more predictable than social interaction. This makes music therapy a promising medium for therapeutic support and intervention. Previous clinical trials of music therapy compared to traditional therapy for autistic children have shown encouraging but nevertheless mixed results. KEY AIMS: The primary aim is to conduct a randomised controlled trial (RCT) of improvisational music therapy for autistic children and test its effectiveness in at improving social communication and wellbeing, and to reduce anxiety. RESEARCH PLAN: The RCT will be conducted with 200 autistic children in the UK aged 7 to 11 years old. Participants will be randomly assigned to either improvisational music therapy or support as usual. The trial will be an assessor-blind, pragmatic two-arm cluster RCT comparing the impact of 12-weeks of improvisational music therapy in addition to support as usual, vs. support as usual for autistic children. METHODS: Researchers who are blind to which arm the children are in will conduct assessments and obtain data via caregiver reports. The primary outcome will be the absolute change in the total score of the Brief Observation of Social Communication Change (BOSCC) assessed at baseline, T1 (13 weeks) and T2 (39 weeks) follow-ups. The BOSCC consists of specific items that were developed to identify changes in social-communication behaviours. Secondary outcome measures include: (1) Parent reported anxiety scale for youth with ASD (Note that we do not use the term ‘ASD’ or Autism Spectrum Disorder, because many autistic people feel it is stigmatising. Instead, we use the term ‘autism’) (PRAS-ASD) (2) Young Child Outcome Rating Scale, for wellbeing (YCORS), (3) Strengths and Difficulties Questionnaire (SDQ); and (4) Vineland Adaptive Behaviour Scale (VABS). (5) The Children’s Communication Checklist-2 (CCC-2) will be completed to evaluate pragmatic speech with fluent speakers only; (6) The Music Engagement Scale (MES); and (7) Assessment of the Quality of Relationship (AQR) will be used to evaluate the child-therapist relationships using video-analysis of music therapy sessions. Additional data will be collected by administering the Wechsler Abbreviated Scale of Intelligence (WASI-II), Music at Home Questionnaire (M@H), and children’s versions of the Empathy Quotient (EQ) and Systemizing Quotient (SQ). Audio and video data from the therapy sessions will be collected and analysed (using both human and computer-based feature-coding, e.g., machine learning and AI-driven methods) to identify how music and non-musical interactions foster change throughout the therapy. DISCUSSION: This study aims to observe if the interactions, engagement, and therapeutic modalities fostered during music therapy sessions can translate to non-musical contexts and improve autistic children’s social communication skills, identifying possible mediating factors contributing to the effectiveness of music therapy, potentially informing policy making and governance. TRIAL REGISTRATION: This randomised control trial is registered with the NIH U.S. National Library of Medicine: https://clinicaltrials.gov/search?term=NCT06016621 , clinicalTrials.gov Identifier: NCT0601662, Registration Date 19th August 2023.

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12. Kato S, Hanawa K, Saito M, Nakamura K. Creating a diagnostic assessment model for autism spectrum disorder by differentiating lexicogrammatical choices through machine learning. PLoS One;2024;19(9):e0311209.

This study explores the challenge of differentiating autism spectrum (AS) from non-AS conditions in adolescents and adults, particularly considering the heterogeneity of AS and the limitations ofssss diagnostic tools like the ADOS-2. In response, we advocate a multidimensional approach and highlight lexicogrammatical analysis as a key component to improve diagnostic accuracy. From a corpus of spoken language we developed, interviews and story-recounting texts were extracted for 64 individuals diagnosed with AS and 71 non-AS individuals, all aged 14 and above. Utilizing machine learning techniques, we analyzed the lexicogrammatical choices in both interviews and story-recounting tasks. Our approach led to the formulation of two diagnostic models: the first based on annotated linguistic tags, and the second combining these tags with textual analysis. The combined model demonstrated high diagnostic effectiveness, achieving an accuracy of 80%, precision of 82%, sensitivity of 73%, and specificity of 87%. Notably, our analysis revealed that interview-based texts were more diagnostically effective than story-recounting texts. This underscores the altered social language use in individuals with AS, a csrucial aspect in distinguishing AS from non-AS conditions. Our findings demonstrate that lexicogrammatical analysis is a promising addition to traditional AS diagnostic methods. This approach suggests the possibility of using natural language processing to detect distinctive linguistic patterns in AS, aiming to enhance diagnostic accuracy for differentiating AS from non-AS in adolescents and adults.

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13. Kim SW, Lee H, Song DY, Lee GH, Ji J, Park JW, Han JH, Lee JW, Byun HJ, Son JH, Kim YR, Lee Y, Kim J, Jung A, Lee J, Kim E, Kim SH, Lee JH, Satterstrom FK, Girirajan S, Børglum AD, Grove J, Kim E, Werling DM, Yoo HJ, An JY. Whole genome sequencing analysis identifies sex differences of familial pattern contributing to phenotypic diversity in autism. Genome Med;2024 (Sep 27);16(1):114.

BACKGROUND: Whole-genome sequencing (WGS) analyses have found higher genetic burden in autistic females compared to males, supporting higher liability threshold in females. However, genomic evidence of sex differences has been limited to European ancestry to date and little is known about how genetic variation leads to autism-related traits within families across sex. METHODS: To address this gap, we present WGS data of Korean autism families (n = 2255) and a Korean general population sample (n = 2500), the largest WGS data of East Asian ancestry. We analyzed sex differences in genetic burden and compared with cohorts of European ancestry (n = 15,839). Further, with extensively collected family-wise Korean autism phenotype data (n = 3730), we investigated sex differences in phenotypic scores and gene-phenotype associations within family. RESULTS: We observed robust female enrichment of de novo protein-truncating variants in autistic individuals across cohorts. However, sex differences in polygenic burden varied across cohorts and we found that the differential proportion of comorbid intellectual disability and severe autism symptoms mainly drove these variations. In siblings, males of autistic females exhibited the most severe social communication deficits. Female siblings exhibited lower phenotypic severity despite the higher polygenic burden than male siblings. Mothers also showed higher tolerance for polygenic burden than fathers, supporting higher liability threshold in females. CONCLUSIONS: Our findings indicate that genetic liability in autism is both sex- and phenotype-dependent, expanding the current understanding of autism’s genetic complexity. Our work further suggests that family-based assessments of sex differences can help unravel underlying sex-differential liability in autism.

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14. Lemanski EA, Collins BA, Ebenezer AT, Anilkumar S, Langdon VA, Zheng Q, Ding S, Franke KR, Schwarz JM, Wright-Jin EC. A Novel Non-Invasive Murine Model of Neonatal Hypoxic-Ischemic Encephalopathy Demonstrates Developmental Delay and Motor Deficits with Activation of Inflammatory Pathways in Monocytes. Cells;2024 (Sep 14);13(18)

Neonatal hypoxic-ischemic encephalopathy (HIE) occurs in 1.5 per 1000 live births, leaving affected children with long-term motor and cognitive deficits. Few animal models of HIE incorporate maternal immune activation (MIA) despite the significant risk MIA poses to HIE incidence and diagnosis. Our non-invasive model of HIE pairs late gestation MIA with postnatal hypoxia. HIE pups exhibited a trend toward smaller overall brain size and delays in the ontogeny of several developmental milestones. In adulthood, HIE animals had reduced strength and gait deficits, but no difference in speed. Surprisingly, HIE animals performed better on the rotarod, an assessment of motor coordination. There was significant upregulation of inflammatory genes in microglia 24 h after hypoxia. Single-cell RNA sequencing (scRNAseq) revealed two microglia subclusters of interest following HIE. Pseudobulk analysis revealed increased microglia motility gene expression and upregulation of epigenetic machinery and neurodevelopmental genes in macrophages following HIE. No sex differences were found in any measures. These results support a two-hit noninvasive model pairing MIA and hypoxia as a model for HIE in humans. This model results in a milder phenotype compared to established HIE models; however, HIE is a clinically heterogeneous injury resulting in a variety of outcomes in humans. The pathways identified in our model of HIE may reveal novel targets for therapy for neonates with HIE.

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15. Li H, Zhang Q, Duan T, Li J, Shi L, Hua Q, Li D, Ji GJ, Wang K, Zhu C. Sex differences in brain functional specialization and interhemispheric cooperation among children with autism spectrum disorders. Sci Rep;2024 (Sep 27);14(1):22096.

The prevalence of autism spectrum disorders (ASDs) differs substantially between males and females, suggesting that sex-related neurodevelopmental factors are central to ASD pathogenesis. Numerous studies have suggested that abnormal brain specialization patterns and poor regional cooperation contribute to ASD pathogenesis, but relatively little is known about the related sex differences. Therefore, this study examined sex differences in brain functional specialization and cooperation among children with ASD. The autonomy index (AI) and connectivity between functionally homotopic voxels (CFH) derived from resting-state functional magnetic resonance imaging (rs-fMRI) were compared between 58 male and 13 female children with ASD. In addition, correlations were examined between regional CFH values showing significant sex differences and symptom scores on the autism behavior checklist (ABC) and childhood autism rating scale (CARS). Male children with ASD demonstrated significantly greater CFH in the left fusiform gyrus (FG) and right opercular part of the inferior frontal gyrus (IFGoperc) than female children with ASD. In addition, the CFH value of the left FG in male children with ASD was negatively correlated with total ABC score and subscale scores for sensory and social abilities. In contrast, no sex differences were detected in brain specialization. These regional abnormalities in interhemispheric cooperation among male children with ASD may provide clues to the neural mechanisms underlying sex differences in ASD symptomatology and prevalence. Autism spectrum disorders, sex, resting-state functional magnetic resonance imaging, cerebral specialization, interhemispheric cooperation.

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16. Liu Q, Yu D. Interaction and association between multiple vitamins and social adaptability and severity of autism: A large-scale retrospective study from China. Autism Res;2024 (Sep 26)

Since children with autism spectrum disorder (ASD) often exhibit selective eating behaviors, it is generally believed that they may have abnormal nutrient structure, leading to aberrant concentrations of some serum vitamins. However, previous studies on serum vitamins in individuals with ASD are mixed. Additionally, the interaction and association between multiple serum vitamin and ASD-related symptoms remain unclear. This study utilized a cross-sectional survey with a large sample size (n = 1235) from China to clarify previous mixed findings, and examine the interaction and association between multiple serum vitamins (including folic acid [FA], vitamin A [VA], vitamin E [VE], vitamin B12 [VB12], and vitamin D [VD]) and social adaptability and symptom severity in children with ASD. Findings found that symptom severity was negatively associated with concentrations of serum VA, VE, VB12, and VD; while, social adaptability was significantly associated with the natural log-transformed concentrations of FA and VB12. Finding also revealed the interaction of VA and VE on the association between both vitamins and severity of ASD symptoms, as well as the interaction of VB12 and FA on the association between both vitamins and social adaptability. In particular, the combination of low concentration of VA and high concentration of VE is associated with the lowest risk of being « severely autistic »; while, the combination of low concentration of FA and high concentration of VB12 is associated with the lowest risk of being « poor social adaptability ». This study offers the evidence for the requirement of considering multiple vitamins comprehensively, as well as valuable references for revealing the association between vitamin disparities and food selectivity in children with ASD.

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17. Liu Y, Tian X, Mao H, Cheng L, Wang P, Gao Y. Research on pragmatic impairment in autistic children during the past two decades (2001-2022): hot spots and frontiers-based on CiteSpace bibliometric analysis. Front Psychol;2024;15:1276001.

Pragmatic impairment has become a critical aspect of language development in autistic children and has gained significant academic attention over the past two decades. This study leverages bibliometric methods to conduct an exhaustive analysis of literature derived from Web of Science database. Utilizing CiteSpace software, we construct a knowledge map to dissect the academic hotspots in research related to pragmatic impairment in autistic children. This enables us to delineate the evolutionary trajectory of this research domain, analyze the prevailing research dimensions, and anticipate potential future dimensions. Our findings indicate that research hotspots in this field over the past two decades predominantly concentrate on assessing and diagnosing pragmatic impairment in autistic children, intervention strategies, and theory of mind. The research scope on pragmatic impairment in autistic children has progressively broadened and deepened. Research has evolved from initial descriptions and interpretations of autism to exploring the theory of mind in high-functioning, school-aged children. The current emphasis is on examining the specific skills that these children possess.

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18. Moser C, Friedman L, Bangert K, Hickey A, Sun J, Klusek J. The Effects of the COVID-19 Pandemic on Mental Health in Mothers of Autistic Children and Mothers of Children with Fragile X Syndrome. Res Autism Spectr Disord;2024 (Sep);117

BACKGROUND: The COVID-19 pandemic adversely affected the mental health of American mothers and mothers of children with disabilities may have been disproportionately impacted. The present study characterized psychological well-being, social support, and caregiving responsibilities during the pandemic across mothers of children with autism, fragile X syndrome (FXS), and neurotypical children. METHODS: Participants were 54 mothers of children with FXS, 46 mothers of autistic children, and a control group of 80 mothers of neurotypical children. Mothers completed questionnaires on depressive and anxiety symptoms, perceived decline in psychological well-being due to the pandemic, pandemic-related changes in caregiving responsibilities, and levels of social support. RESULTS: Over half of the mothers of children with autism and over one-third of the mothers of children with FXS reported clinically significant symptoms of depression and anxiety, with rates significantly higher than the control mothers. Though all mothers reported a surge in caregiving responsibilities, mothers of children with FXS experienced greater increases in caregiving responsibilities and social support was lower in both disability groups. Caregiving responsibilities and social support were associated with psychological well-being due to the pandemic across all groups. CONCLUSIONS: Findings highlight the harsh impact of the pandemic on the mental health of mothers of children with FXS and autism. The staggering rate of clinical depressive and anxiety symptoms reported by these groups underscores the urgent need for improved access to psychological services and family-centered supports, with increased caregiving responsibilities and inadequate social support representing important risk factors for mental health problems.

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19. Mota FB, Braga LAM, Cabral BP. Exploring the landscape of adult autism research in psychology: a bibliometric and network analysis. Front Psychol;2024;15:1427090.

The global prevalence of autism spectrum disorder (ASD) is increasing. ASD manifests with persistent social communication and interaction challenges, limited interests, and repetitive behaviors. As the scientific literature on ASD in adults varies greatly, mapping the recent global research becomes valuable for enhancing comprehension of this subject. This study aims to map recent global scientific publications on ASD in adults. Using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses, bibliometrics, and network analyses, we assessed 850 articles indexed in the Web of Science Core Collection between 2013 and 2022 assigned to the research area of psychology. Findings indicate an annual average growth of 11.69%. Key keywords include Emotion, Anxiety, and Depression, with Anxiety, Depression, and Mental Health as central nodes in the network. Rehabilitation, Behavioral Sciences, and Psychiatry frequently co-occur, and Psychology, Psychiatry, and ‘Neurosciences and Neurology’ are central nodes in the network of research areas. The United States of America and the United Kingdom lead in publications, with the United Kingdom being the most central country in the network. King’s College London and the University of California are the main research organizations, with King’s College London as the central node in the network. The American Psychiatric Association’s DSM-5-TR was the most cited reference in the period. This comprehensive analysis contributes to understanding the landscape of ASD research in adults, providing insights for future research and fostering collaborations.

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20. Nakamura T, Sumiyoshi T, Kamio Y, Takahashi H. Reduced multiscale complexity of daily behavioral dynamics in autism spectrum disorder. PCN Rep;2024 (Dec);3(4):e70016.

AIM: Autism spectrum disorder (ASD) is difficult to diagnose objectively due to its heterogeneous and complex manifestations. This study aimed to objectively characterize the behavioral phenotypes of ASD children by exploring the multiscale behavioral dynamics. METHODS: We applied behavioral organization (BO) and multiscale sample entropy (MSE) analyses to physical activity data collected from ASD and typically developing children, using wearable monitors in their daily life. We also examined their correlation with auditory startle response measures and clinical questionnaires, including the Social Responsiveness Scale (SRS) and the Strengths and Difficulties Questionnaire (SDQ). RESULTS: A significant decrease in MSE at timescales longer than 6 min was observed in ASD children, suggesting decreased irregularity or unpredictability, potentially linked to repetitive behaviors or stereotyped patterns commonly observed in ASD. Additionally, an increase in MSE positively correlated with prepulse inhibition levels, indicating its relationship with sensorimotor gating. Moreover, the observed significant negative correlation with the total difficulty score of SDQ substantiates MSE’s potential as an objective metric for assessing general mental health problems associated with ASD. CONCLUSION: Multiscale analysis enhances the understanding of ASD’s behavioral dynamics, providing valuable metrics for real-world assessments.

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21. Qi SY, Zhang SJ, Lin LL, Li YR, Chen JG, Ni YC, Du X, Zhang J, Ge P, Liu GH, Wu JY, Lin S, Gong M, Lin JW, Chen LF, He LL, Lin D. Quantifying attention in children with intellectual and developmental disabilities through multicenter electrooculogram signal analysis. Sci Rep;2024 (Sep 27);14(1):22186.

In a multicenter case-control investigation, we assessed the efficacy of the Electrooculogram Signal Analysis (EOG-SA) method, which integrates attention-related visual evocation, electrooculography, and nonlinear analysis, for distinguishing between intellectual and developmental disabilities (IDD) and typical development (TD) in children. Analyzing 127 participants (63 IDD, 64 TD), we applied nonlinear dynamics for feature extraction. Results indicated EOG-SA’s capability to distinguish IDD, with higher template thresholds and Correlation Dimension values correlating with clinical severity. The template threshold proved a robust indicator, with higher values denoting severe IDD. Discriminative metrics showed areas under the curve of 0.91 (template threshold) and 0.85/0.91 (D2), with sensitivities and specificities of 77.6%/95.9% and 93.5%/71.0%, respectively. EOG-SA emerges as a promising tool, offering interpretable neural biomarkers for early and nuanced diagnosis of IDD.

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22. Rapaport H, Sowman PF. Examining predictive coding accounts of typical and autistic neurocognitive development. Neurosci Biobehav Rev;2024 (Sep 24):105905.

Predictive coding has emerged as a prominent theoretical framework for understanding perception and its neural underpinnings. There has been a recent surge of interest in the predictive coding framework across the mind sciences. However, comparatively little of the research in this field has investigated the neural underpinnings of predictive coding in young neurotypical and autistic children. This paper provides an overview of predictive coding accounts of typical and autistic neurocognitive development and includes a review of the current electrophysiological evidence supporting these accounts. Based on the current evidence, it is clear that more research in pediatrics is needed to evaluate predictive coding accounts of neurocognitive development fully. If supported, these accounts could have wide-ranging practical implications for pedagogy, parenting, artificial intelligence, and clinical approaches to helping autistic children manage the barrage of everyday sensory information.

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23. Ruggieri V. [Autism: associated medical conditions]. Medicina (B Aires);2024 (Sep);84 Suppl 3:39-44.

Autism will accompany people throughout life with variations in its evolution and is frequently associated with other neurodevelopmental disorders (intellectual disability, attention deficit hyperactivity disorder, motor clumsiness, language disorder), neuropsychiatric disorders (depression, anxiety, schizophrenia, catatonia), epilepsy, sleep disorders, gastrointestinal disorders. In addition to the disorders typical of autism, we must consider an entire range of conditions, since their identification and adequate treatment will allow a better quality-of-life for people with autism. In 35% of cases, we can identify neurogenetic conditions which will allow us to prevent or identify associated medical entities. In this work we will analyze two groups, in a purely organizational way, medical conditions associated with defined entities (Down, Angelman, Fragile X, Rett, Phelan-McDermid and Timothy syndromes) and those that can be consistently associated in people with autism without an identified entity.

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24. Rydzanicz M, Kuzniewska B, Magnowska M, Wójtowicz T, Stawikowska A, Hojka A, Borsuk E, Meyza K, Gewartowska O, Gruchota J, Miłek J, Wardaszka P, Chojnicka I, Kondrakiewicz L, Dymkowska D, Puścian A, Knapska E, Dziembowski A, Płoski R, Dziembowska M. Mutation in the mitochondrial chaperone TRAP1 leads to autism with more severe symptoms in males. EMBO Mol Med;2024 (Sep 27)

There is increasing evidence of mitochondrial dysfunction in autism spectrum disorders (ASD), but the causal relationships are unclear. In an ASD patient whose identical twin was unaffected, we identified a postzygotic mosaic mutation p.Q639* in the TRAP1 gene, which encodes a mitochondrial chaperone of the HSP90 family. Additional screening of 176 unrelated ASD probands revealed an identical TRAP1 variant in a male patient who had inherited it from a healthy mother. Notably, newly generated knock-in Trap1 p.Q641* mice display ASD-related behavioral abnormalities that are more pronounced in males than in females. Accordingly, Trap1 p.Q641* mutation also resulted in sex-specific changes in synaptic plasticity, the number of presynaptic mitochondria, and mitochondrial respiration. Thus, the TRAP1 p.Q639* mutation is the first example of a monogenic ASD caused by impaired mitochondrial protein homeostasis.

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25. Xiong C, Zhang M, Yang H, Wei X, Zhao C, Zhang J. Modelling cell type-specific lncRNA regulatory network in autism with Cycle. BMC Bioinformatics;2024 (Sep 27);25(1):307.

BACKGROUND: Autism spectrum disorder (ASD) is a class of complex neurodevelopment disorders with high genetic heterogeneity. Long non-coding RNAs (lncRNAs) are vital regulators that perform specific functions within diverse cell types and play pivotal roles in neurological diseases including ASD. Therefore, exploring lncRNA regulation would contribute to deciphering ASD molecular mechanisms. Existing computational methods utilize bulk transcriptomics data to identify lncRNA regulation in all of samples, which could reveal the commonalities of lncRNA regulation in ASD, but ignore the specificity of lncRNA regulation across various cell types. RESULTS: Here, we present Cycle (Cell type-specific lncRNA regulatory network) to construct the landscape of cell type-specific lncRNA regulation in ASD. We have found that each ASD cell type is unique in lncRNA regulation, and more than one-third and all cell type-specific lncRNA regulatory networks are characterized as scale-free and small-world, respectively. Across 17 ASD cell types, we have discovered 19 rewired and 11 stable modules, along with eight rewired and three stable hubs within the constructed cell type-specific lncRNA regulatory networks. Enrichment analysis reveals that the discovered rewired and stable modules and hubs are closely related to ASD. Furthermore, more similar ASD cell types tend to be connected with higher strength in the constructed cell similarity network. Finally, the comparison results demonstrate that Cycle is a potential method for uncovering cell type-specific lncRNA regulation. CONCLUSION: Overall, these results illustrate that Cycle is a promising method to model the landscape of cell type-specific lncRNA regulation, and provides insights into understanding the heterogeneity of lncRNA regulation between various ASD cell types.

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26. Yang K, Li T, Geng Y, Zhang R, Xu Z, Wu J, Yuan Y, Zhang Y, Qiu Z, Li F. Protocol for the neonatal intracerebroventricular delivery of adeno-associated viral vectors for brain restoration of MECP2 for Rett syndrome. STAR Protoc;2024 (Sep 25);5(4):103344.

Here, we present a protocol for neonatal intracerebroventricular (ICV) delivery of adeno-associated viral vectors (AAVs), achieving gene therapy for a Rett syndrome mouse model. We describe steps for preparing mouse lines, replacing foster mothers, sex typing, and genotyping. We then detail procedures for ICV delivery and validation through immunofluorescent and immunoblot techniques. This protocol is also applicable to preclinical gene therapy research that targets the neonatal mouse brain for other neurodevelopmental disorders. For complete details on the use and execution of this protocol, please refer to Yang et al.(1).

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27. Zhang H, Peng D, Tang S, Bi A, Long Y. Aberrant Flexibility of Dynamic Brain Network in Patients with Autism Spectrum Disorder. Bioengineering (Basel);2024 (Aug 30);11(9)

Autism spectrum disorder (ASD) is a collection of neurodevelopmental disorders whose pathobiology remains elusive. This study aimed to investigate the possible neural mechanisms underlying ASD using a dynamic brain network model and a relatively large-sample, multi-site dataset. Resting-state functional magnetic resonance imaging data were acquired from 208 ASD patients and 227 typical development (TD) controls, who were drawn from the multi-site Autism Brain Imaging Data Exchange (ABIDE) database. Brain network flexibilities were estimated and compared between the ASD and TD groups at both global and local levels, after adjusting for sex, age, head motion, and site effects. The results revealed significantly increased brain network flexibilities (indicating a decreased stability) at the global level, as well as at the local level within the default mode and sensorimotor areas in ASD patients than TD participants. Additionally, significant ASD-related decreases in flexibilities were also observed in several occipital regions at the nodal level. Most of these changes were significantly correlated with the Autism Diagnostic Observation Schedule (ADOS) total score in the entire sample. These results suggested that ASD is characterized by significant changes in temporal stabilities of the functional brain network, which can further strengthen our understanding of the pathobiology of ASD.

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28. Zheng W, Bao C, Mu R, Wang J, Li T, Zhao Z, Yao Z, Hu B. Frequency-specific dual-attention based adversarial network for blood oxygen level-dependent time series prediction. Hum Brain Mapp;2024 (Oct);45(14):e70032.

Functional magnetic resonance imaging (fMRI) is currently one of the most popular technologies for measuring brain activity in both research and clinical contexts. However, clinical constraints often result in short fMRI scan durations, limiting the diagnostic performance for brain disorders. To address this limitation, we developed an end-to-end frequency-specific dual-attention-based adversarial network (FDAA-Net) to extend the time series of existing blood oxygen level-dependent (BOLD) data, enhancing their diagnostic utility. Our approach leverages the frequency-dependent nature of fMRI signals using variational mode decomposition (VMD), which adaptively tracks brain activity across different frequency bands. We integrated the generative adversarial network (GAN) with a spatial-temporal attention mechanism to fully capture relationships among spatially distributed brain regions and temporally continuous time windows. We also introduced a novel loss function to estimate the upward and downward trends of each frequency component. We validated FDAA-Net on the Human Connectome Project (HCP) database by comparing the original and predicted time series of brain regions in the default mode network (DMN), a key network activated during rest. FDAA-Net effectively overcame linear frequency-specific challenges and outperformed other popular prediction models. Test-retest reliability experiments demonstrated high consistency between the functional connectivity of predicted outcomes and targets. Furthermore, we examined the clinical applicability of FDAA-Net using short-term fMRI data from individuals with autism spectrum disorder (ASD) and major depressive disorder (MDD). The model achieved a maximum predicted sequence length of 40% of the original scan durations. The prolonged time series improved diagnostic performance by 8.0% for ASD and 11.3% for MDD compared with the original sequences. These findings highlight the potential of fMRI time series prediction to enhance diagnostic power of brain disorders in short fMRI scans.

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