1. Alhuzimi TE. Saudi parents’ perspectives of the factors influencing the quality of life of their children with autism spectrum disorder. Res Dev Disabil;2024 (Jul 12);152:104799.

BACKGROUND: Research indicates that the deficits in social communication and the repetitive, restrictive behaviour of persons with Autistic Spectrum Disorder (ASD) can pose challenges to their functioning in different Quality of Life (QoL) domains, leading to lower levels of life satisfaction. Evidence also indicates that various social and family factors, such as the support received in the community/environment and the composition of the family, could impact the QoL of persons with ASD. AIM: To study the factors influencing the QoL of children with ASD in the Kingdom of Saudi Arabia (KSA) by investigating the perspectives of their parents. METHOD: Questionnaires were completed by 110 parents who had a child with ASD. The questionnaire included the 96-item KidsLife-ASD scale to capture parents’ perspectives regarding the difficulties experienced by their child, the ASD support received by their families, and the QoL of the child. The data obtained from the questionnaire were statistically analysed using IBM SPSS software. RESULTS: The difficulties experienced by children with ASD and aspects of the support (services and interventions, and challenges) they receive are factors that influence the QoL of children with ASD in the KSA. Moreover, the number of children in the family, the birth order of child with ASD, and the severity of ASD symptoms are factors that influence parents’ perceptions of their children’s difficulties, family ASD support, and the child’s QoL. CONCLUSIONS: Saudi parents who have one child with ASD believed that the QoL of their child was high and confirmed that the difficulties experienced by the child and the support received by the family were factors which influenced the QoL of a child with ASD.

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2. Axelsson J, van Someren EJW, Balter LJT. Sleep profiles of different psychiatric traits. Transl Psychiatry;2024 (Jul 12);14(1):284.

Disturbed sleep comes in many forms. While the key role of sleep in mental health is undisputed, our understanding of the type of sleeping problems that manifest in the early stages of psychiatric disorders is limited. A sample without psychiatric diagnoses (N = 440, 341 women, 97 men, 2 non-binaries; M(age) = 32.1, SD = 9.4, range 18-77) underwent a comprehensive assessment, evaluating eight sleep features and 13 questionnaires on common psychiatric complaints. Results revealed that traits of affect disorders, generalized anxiety, and ADHD had the worst sleep profiles, while autism disorder, eating disorder, and impulsivity traits showed milder sleep issues. Mania was the only trait associated with an overall better sleep profile. Across traits, insomnia and fatigue dominated and sleep variability was least prominent. These findings provide support for both transdiagnostic and disorder-specific targets for prevention and treatment.

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3. Birtwell K, Goldin R, Saro H, McDougle C, Horick N, Ravichandran C, Nowinski L. Using Restricted Interests in Cognitive Behavioral Therapy for Children With Autism Spectrum Disorder: Results From a Preliminary Randomized Controlled Trial. J Cogn Psychother;2024 (Jul 11);38(3):186-202.

Children with autism spectrum disorder (ASD) exhibit significant deficits in social communication and emotion regulation skills. While cognitive behavioral therapy (CBT) applications appear promising, trials to date have largely excluded social communication skill development and have not been designed to include a wider range of emotional challenges. To our knowledge, the present study is the first to pilot a uniquely modified CBT program targeting emotion regulation, including social communication training, and explicitly focusing on the child’s areas of circumscribed interest in order to teach skills and promote generalization. Forty participants were randomly assigned to either the CBT group or a waitlist control (WLC) group, resulting in 20 school-aged children in each group. The treatment approach was determined to be feasible and acceptable, and therapy engagement and attendance were reasonably high. Caregivers expressed high satisfaction with the program, qualitatively citing gains in skills such as social problem-solving, emotion identification, and identifying and processing cognitive distortions. The primary outcome of postintervention changes was not significantly different between the groups (CBT vs. WLC). The mean Social Skills Improvement System score decreased by 0.44 points (95% confidence interval [CI]: -5.04, 4.15) in the CBT group and increased by 0.41 points (95% CI: -4.23, 5.04) in the WLC group, and the postintervention changes were not significantly different between the groups (difference: -0.85; 95% CI: -7.29, 5.60; p = .79). The estimated rate of emotional dysregulation episodes decreased by a factor of 0.94 (95% CI: 0.57, 1.56) in the CBT group and increased by a factor of 1.07 (95% CI: 0.51, 2.24) for WLC (p = .74). Among those who reported emotional dysregulation episodes, the mean duration decreased by 1.39 minutes (95% CI: -3.90, 6.67) less for CBT than waitlist (p = .60). Although satisfaction, acceptability, and emotional dysregulation outcome results from this preliminary CBT treatment for ASD are promising, sample size and measurement limitations will be important considerations to inform future trials.

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4. Bled C, Guillon Q, Mottron L, Soulieres I, Bouvet L. Visual mental imagery abilities in autism. Autism Res;2024 (Jul 11)

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5. Chao ZC, Komatsu M, Matsumoto M, Iijima K, Nakagaki K, Ichinohe N. Erroneous predictive coding across brain hierarchies in a non-human primate model of autism spectrum disorder. Commun Biol;2024 (Jul 12);7(1):851.

In autism spectrum disorder (ASD), atypical sensory experiences are often associated with irregularities in predictive coding, which proposes that the brain creates hierarchical sensory models via a bidirectional process of predictions and prediction errors. However, it remains unclear how these irregularities manifest across different functional hierarchies in the brain. To address this, we study a marmoset model of ASD induced by valproic acid (VPA) treatment. We record high-density electrocorticography (ECoG) during an auditory task with two layers of temporal control, and applied a quantitative model to quantify the integrity of predictive coding across two distinct hierarchies. Our results demonstrate a persistent pattern of sensory hypersensitivity and unstable predictions across two brain hierarchies in VPA-treated animals, and reveal the associated spatio-spectro-temporal neural signatures. Despite the regular occurrence of imprecise predictions in VPA-treated animals, we observe diverse configurations of underestimation or overestimation of sensory regularities within the hierarchies. Our results demonstrate the coexistence of the two primary Bayesian accounts of ASD: overly-precise sensory observations and weak prior beliefs, and offer a potential multi-layered biomarker for ASD, which could enhance our understanding of its diverse symptoms.

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6. Corbera S, Wexler BE, Bell MD, Pittman B, Pelphrey K, Pearlson G, Assaf M. Disentangling negative and positive symptoms in schizophrenia and autism spectrum disorder. Schizophr Res;2024 (Jul 12);271:1-8.

Autism spectrum disorder (ASD) and schizophrenia (SZ) share traits, especially in social skills and negative symptoms, and to a lesser degree positive symptoms. Differential diagnosis can be challenging and discerning expressive and experiential negative symptoms may provide knowledge with potential diagnostic and functional relevance that can guide treatment. Two exploratory factor analyses (EFA) were conducted to reveal the underlying dimensions of negative and positive symptoms using the Positive and Negative Syndrome Scale (PANSS), the Scale for the Assessment of Positive Symptoms & Negative Symptoms (SAPS/SANS) and the Autism Diagnostic Observation Schedule-Generic (ADOS-G). Three factors emerged from the negative symptom EFA (70.5 % variance): NF1) Expressive Negative; NF2) Experiential Negative; and NF3) Preoccupation, Absorption & Expressive Affective Flattening. Three positive factors emerged (68.6 % variance): PF1) Hallucinations-Delusions; PF2) Grandiosity; and PF3) Thought Disorder-ADOS positive Symptoms. SZ showed higher PF1 scores, and ASD had higher PF3 scores. No differences between groups were observed in the negative factors. Across groups, all negative factors were inversely associated with quality of life. Only NF1 and NF2 and PF1 were detrimentally related to social functioning. A discriminant function analysis using all factors classified correctly 84.4 % of participants, with PF1, NF1 followed by NF2 being the best predictors of diagnosis. Expressive negative followed by Experiential negative symptoms are of diagnostic value independent of and beyond SZ-related positive symptoms and are related with detrimental functioning. Findings confirm the need to distinctively target negative symptoms, and specific SZ-related and ASD-related positive symptoms, and especially the use of several assessment tools for diagnostic classification.

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7. Ćuk M, Lovrenčić L, Unal B, Walker M, Hayes CP, Krakar G, Beluzić R, Sansović I, Pavliša G, Ghazani AA. Novel de Novo Nonsense Variants in AGO3 and KHSRP: Insights into Global Developmental Delay and Autism Spectrum Disorders through Whole Genome Analysis. Am J Case Rep;2024 (Jul 12);25:e943641.

BACKGROUND Neurodevelopmental disorders (NDD) are umbrella disorders that encompass global developmental delay (GDD), intellectual disability, autism spectrum disorders, motor developmental disorders, and sleep disorders. Both GDD and autism spectrum disorder are common and yet clinically and genetically heterogeneous disorders. Despite their high prevalence and the advent of sequencing detection methods, the genomic etiology of GDD and autism spectrum disorder in most patients is largely unknown. CASE REPORT In this study, we describe a 6-year-old girl with GDD, autistic features, and structural brain abnormalities, including a moderate reduction in periventricular white matter and bilateral optic nerve hypoplasia, Chiari malformation type I with normal myelinization. A comprehensive joint whole-genome analysis (WGS) of the proband and her unaffected parents was performed. The trio-WGS analysis identified novel de novo nonsense variants AGO3: c.1324C>T (p.Gln442*) and KHSRP: c.1573C>T (p.Gln525*). These variants have not been reported in gnomAD and published literature. AGO3 and KHSRP are not currently associated with a known phenotype in the Online Mendelian Inheritance in Man (OMIM); however, they may be involved in neuronal development. CONCLUSIONS This report highlights the utility of joint WGS analysis in identifying novel de novo genomic alterations in a patient with the spectrum of phenotypes of GDD and neurodevelopmental disorders. The role of these variants and genes in GDD requires further studies.

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8. Hoyle JN, Warren-Findlow J, Wallace L, Laditka JN, Laditka SB. Time in childhood extracurricular activity and mental health of young adults with developmental disability. Disabil Health J;2024 (Jul 5):101671.

BACKGROUND: People with developmental disability have higher rates of mental health problems such as anxiety, depression, psychological distress, or a limited sense of belonging to a community. Extracurricular activity can help children and adolescents build social connections beyond family, increasing social capital, which may promote mental health in the transition into adulthood. Little is known about such associations among people with developmental disability. OBJECTIVE: To examine associations of childhood extracurricular activity with mental health in young adulthood among people with and without developmental disability. METHODS: Data: Panel Study of Income Dynamics (PSID, 1968-2017), its Child Development Supplement (1997, 2002, 2007) and its Transition into Adulthood Supplement (2005-2019) (n = 2801). Time diaries measured time in activity. Outcomes were psychological distress (Kessler K6) and flourishing (Mental Health Continuum-Short Form). Adjusted linear regressions modeled associations. RESULTS: In nationally representative results, 9.6 % (95 % confidence interval, CI 7.8, 11.4) had a disability. Children without disability reported more average weekly time in group activity, 125.1 min (CI 113.2, 136.9) vs. 93.6 (CI 55.1, 132.0; not significant at conventional levels). In adjusted results, « some » group activity (0-180 weekly minutes) was associated with greater flourishing for those with developmental disability (0.89; CI 0.16, 1.61). CONCLUSIONS: Among people with developmental disability, group activity in childhood was associated with greater flourishing in young adulthood. More research is needed to understand the complex nature of activity participation for children with developmental disabilities.

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9. King C, Rogers LG, Jansen J, Sivayokan B, Neyhard J, Warnes E, Hall SE, Plakke B. Adolescent Treadmill Exercise Enhances Hippocampal Brain-Derived Neurotrophic Factor (BDNF) Expression and Improves Cognition in Autism-Modeled Rats. Physiol Behav;2024 (Jul 12):114638.

Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder characterized by repetitive behaviors and altered communication abilities. Exercise is a low-cost intervention that could improve cognitive function and improve brain plasticity mechanisms. Here, the valproic acid (VPA) model was utilized to induce ASD-like phenotypes in rodents. Animals were exercised on a treadmill and performance was evaluated on a cognitive flexibility task. Biomarkers related to exercise and plasticity regulation were quantified from the prefrontal cortex, hippocampus, and skeletal muscle. Exercised VPA animals had higher levels of hippocampal BDNF compared to sedentary VPA animals and upregulated antioxidant enzyme expression in skeletal muscle. Cognitive improvements were demonstrated in both sexes, but in different domains of cognitive flexibility. This research demonstrates the benefits of exercise and provides evidence that molecular responses to exercise occur in both the central nervous system and in the periphery. These results suggest that improving regulation of BDNF via exercise, even at low intensity, could provide better synaptic regulation and cognitive benefits for individuals with ASD.

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10. Liu Z. Genetic causal relationship between placental weight and autism spectrum disorder: A two-sample Mendelian randomization study. J Psychosom Res;2024 (Jul 6);184:111857.

OBJECT: Previous research has suggested an association between placental tissue abnormalities and the diagnosis of autism spectrum disorder. This study aims to explore the causal relationship between placental weight and autism spectrum disorder. METHODS: This study employed Mendelian randomization analysis to investigate the potential causal relationship between placental weight and autism spectrum disorder. The study design involved two sample populations, with data for the exposed population sourced from previous studies focusing on PW, and data for the outcome population obtained from the Integrative Psychiatric Research and the Psychiatric Genomics Consortium study. To ensure the robustness of the results, three sensitivity analyses were performed, including heterogeneity testing, pleiotropy testing, and a leave-one-out analysis. The inverse variance weighted method served as the gold standard for the Mendelian randomization analysis. RESULTS: The results of the first analysis revealed a significant correlation between an increase in placental weight and an elevated risk of autism spectrum disorder (p = 0.02). Sensitivity analysis detected heterogeneity and outliers. After removing two outlier SNPs in the second round of analysis, the results still supported a genetic causal relationship between placental weight and autism spectrum disorder (p = 0.01). The second-round sensitivity analysis did not reveal any heterogeneity or outliers. CONCLUSION: Our study provides compelling evidence supporting a causal relationship between elevated placental weight and increased risk of autism spectrum disorder. These findings underscore the significance of placental development in the etiology of autism spectrum disorder and propose a potential early predictive indicator for autism spectrum disorder.

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11. Marryat J, Davis NO, Lerebours R, Carpenter KLH, Compton S, Eichner B, Franz L, Kollins SH, Spanos M, Dawson G. Brief Report: Relationships Between Caregiver-Reported Externalizing and Internalizing Behaviors and the Modified Checklist for Autism in Toddlers. J Autism Dev Disord;2024 (Jul 12)

PURPOSE: Early detection and intervention are associated with improved outcomes for autistic children. Thus, it is important to understand factors influencing early screening tools designed to detect autism. This study examined the relationship between caregiver-reported emotional and behavioral symptoms and children’s scores on a commonly used autism screening questionnaire, the Modified Checklist for Autism in Toddlers-Revised with Follow-Up (M-CHAT-R/F). METHODS: Toddlers were recruited from four primary care clinics between 2018 and 2021. Their caregivers completed the M-CHAT-R/F as well as the Child Behavior Checklist (CBCL), a well-validated, normed measure of emotional and behavioral functioning. Correlational and group analyses were evaluated to examine relationships between CBCL scales and M-CHAT-R/F scores. RESULTS: 1765 toddlers were recruited for the study. CBCL scores for the internalizing, externalizing, autism, ADHD, and anxiety scales were all modestly positively correlated with M-CHAT-R/F scores. Compared to toddlers with elevated autism scale scores only, toddlers with elevations in both autism and ADHD/externalizing scales had higher M-CHAT-R/F scores. In contrast, no significant difference in scores were found between toddlers with elevated autism scale scores only compared to those with elevated scores on both autism and internalizing scales. CONCLUSION: Findings suggest that, for children with elevated autism behaviors, the presence of externalizing symptoms, including ADHD-related concerns, is associated with elevated scores on the M-CHAT-R/F. In contrast, internalizing symptoms did not show an association with elevated M-CHAT-R/F scores among toddlers with elevated autism-related behaviors. Interpretation of the M-CHAT-R/F should include consideration of co-occurring psychiatric conditions, especially externalizing conditions such as ADHD.

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12. McNally Keehn R, Penner M, Shannon J, Sohl K, Weitzman C, Zuckerman KE. Considerations and Actionable Steps to Promote Scaling of Early Autism Diagnosis in Community Primary Care Practice. J Dev Behav Pediatr;2024 (Jul 12)

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13. Montanaro FAM, Alfieri P, Caciolo C, Brunetti A, Airoldi A, de Florio A, Tinella L, Bosco A, Vicari S. Fragile X Syndrome and FMR1 premutation: results from a survey on associated conditions and treatment priorities in Italy. Orphanet J Rare Dis;2024 (Jul 12);19(1):264.

BACKGROUND AND OBJECTIVES: Fragile X Syndrome (FXS) is the most common cause of inherited intellectual disability, caused by CGG-repeat expansions (> 200) in the FMR1 gene leading to lack of expression. Espansion between 55 and 200 triplets fall within the premutation range (PM) and can lead to different clinical conditions, including fragile X- primary ovarian insufficiency (FXPOI), fragile X-associated neuropsychiatric disorders (FXAND) and fragile X-associated tremor/ataxia syndrome (FXTAS). Although there is not a current cure for FXS and for the Fragile X-PM associated conditions (FXPAC), timely diagnosis as well as the implementation of treatment strategies, psychoeducation and behavioral intervention may improve the quality of life (QoL) of people with FXS or FXPAC. With the aim to investigate the main areas of concerns and the priorities of treatment in these populations, the Italian National Fragile X Association in collaboration with Bambino Gesù Children’s Hospital, conducted a survey among Italian participants. METHOD: Here, we present a survey based on the previous study that Weber and colleagues conducted in 2019 and that aimed to investigate the main symptoms and challenges in American individuals with FXS. The survey has been translated into Italian language to explore FXS needs of treatment also among Italian individuals affected by FXS, family members, caretakers, and professionals. Furthermore, we added a section designated only to people with PM, to investigate the main symptoms, daily living challenges and treatment priorities. RESULTS: Anxiety, challenging behaviors, language difficulties and learning disabilities were considered the major areas of concern in FXS, while PM was reported as strongly associated to cognitive problems, social anxiety, and overthinking. Anxiety was reported as a treatment priority in both FXS and PM. CONCLUSION: FXS and PM can be associated with a range of cognitive, affective, and physical health complications. Taking a patient-first perspective may help clinicians to better characterize the cognitive-behavioral phenotype associated to these conditions, and eventually to implement tailored therapeutic approaches.

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14. Montani C, Balasco L, Pagani M, Alvino FG, Barsotti N, de Guzman AE, Galbusera A, de Felice A, Nickl-Jockschat TK, Migliarini S, Casarosa S, Lau P, Mattioni L, Pasqualetti M, Provenzano G, Bozzi Y, Lombardo MV, Gozzi A. Sex-biasing influence of autism-associated Ube3a gene overdosage at connectomic, behavioral, and transcriptomic levels. Sci Adv;2024 (Jul 12);10(28):eadg1421.

Genomic mechanisms enhancing risk in males may contribute to sex bias in autism. The ubiquitin protein ligase E3A gene (Ube3a) affects cellular homeostasis via control of protein turnover and by acting as transcriptional coactivator with steroid hormone receptors. Overdosage of Ube3a via duplication or triplication of chromosomal region 15q11-13 causes 1 to 2% of autistic cases. Here, we test the hypothesis that increased dosage of Ube3a may influence autism-relevant phenotypes in a sex-biased manner. We show that mice with extra copies of Ube3a exhibit sex-biasing effects on brain connectomics and autism-relevant behaviors. These effects are associated with transcriptional dysregulation of autism-associated genes, as well as genes differentially expressed in 15q duplication and in autistic people. Increased Ube3a dosage also affects expression of genes on the X chromosome, genes influenced by sex steroid hormone, and genes sex-differentially regulated by transcription factors. These results suggest that Ube3a overdosage can contribute to sex bias in neurodevelopmental conditions via influence on sex-differential mechanisms.

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15. Mostafavi Abdolmaleky H, Alam R, Nohesara S, Deth RC, Zhou JR. iPSC-Derived Astrocytes and Neurons Replicate Brain Gene Expression, Epigenetic, Cell Morphology and Connectivity Alterations Found in Autism. Cells;2024 (Jun 25);13(13)

Excessive inflammatory reactions and oxidative stress are well-recognized molecular findings in autism and these processes can affect or be affected by the epigenetic landscape. Nonetheless, adequate therapeutics are unavailable, as patient-specific brain molecular markers for individualized therapies remain challenging. METHODS: We used iPSC-derived neurons and astrocytes of patients with autism vs. controls (5/group) to examine whether they replicate the postmortem brain expression/epigenetic alterations of autism. Additionally, DNA methylation of 10 postmortem brain samples (5/group) was analyzed for genes affected in PSC-derived cells. RESULTS: We found hyperexpression of TGFB1, TGFB2, IL6 and IFI16 and decreased expression of HAP1, SIRT1, NURR1, RELN, GPX1, EN2, SLC1A2 and SLC1A3 in the astrocytes of patients with autism, along with DNA hypomethylation of TGFB2, IL6, TNFA and EN2 gene promoters and a decrease in HAP1 promoter 5-hydroxymethylation in the astrocytes of patients with autism. In neurons, HAP1 and IL6 expression trended alike. While HAP1 promoter was hypermethylated in neurons, IFI16 and SLC1A3 promoters were hypomethylated and TGFB2 exhibited increased promoter 5-hydroxymethlation. We also found a reduction in neuronal arborization, spine size, growth rate, and migration, but increased astrocyte size and a reduced growth rate in autism. In postmortem brain samples, we found DNA hypomethylation of TGFB2 and IFI16 promoter regions, but DNA hypermethylation of HAP1 and SLC1A2 promoters in autism. CONCLUSION: Autism-associated expression/epigenetic alterations in iPSC-derived cells replicated those reported in the literature, making them appropriate surrogates to study disease pathogenesis or patient-specific therapeutics.

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16. Shin T, Song JHT, Kosicki M, Kenny C, Beck SG, Kelley L, Antony I, Qian X, Bonacina J, Papandile F, Gonzalez D, Scotellaro J, Bushinsky EM, Andersen RE, Maury E, Pennacchio LA, Doan RN, Walsh CA. Rare variation in non-coding regions with evolutionary signatures contributes to autism spectrum disorder risk. Cell Genom;2024 (Jul 12):100609.

Little is known about the role of non-coding regions in the etiology of autism spectrum disorder (ASD). We examined three classes of non-coding regions: human accelerated regions (HARs), which show signatures of positive selection in humans; experimentally validated neural VISTA enhancers (VEs); and conserved regions predicted to act as neural enhancers (CNEs). Targeted and whole-genome analysis of >16,600 samples and >4,900 ASD probands revealed that likely recessive, rare, inherited variants in HARs, VEs, and CNEs substantially contribute to ASD risk in probands whose parents share ancestry, which enriches for recessive contributions, but modestly contribute, if at all, in simplex family structures. We identified multiple patient variants in HARs near IL1RAPL1 and in VEs near OTX1 and SIM1 and showed that they change enhancer activity. Our results implicate both human-evolved and evolutionarily conserved non-coding regions in ASD risk and suggest potential mechanisms of how regulatory changes can modulate social behavior.

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17. Van Ligten MJ, Rappaport DE, Querin LB, Martini WA. Atrial Septal Defect (ASD) Repair Unveiling an Unusual Conduction Conundrum: A Wenckebach Case Report. Cureus;2024 (Jun);16(6):e62073.

Atrial septal defects are a common congenital malformation that can lead to an elevated risk for stroke due to the bypass of the lungs by deep vein thrombosis, as well as the expected repercussions of pulmonary hypertension if left untreated. Surgical intervention is definitive; however, recent advancements in treatment options, such as percutaneous intervention, represent a safer and equally effective way to treat this congenital complication. While safer, percutaneous interventions can also lead to adverse events that may force patients to present to the emergency department. Here, we present a unique case of a patient with congenital atrial septal defect status post-percutaneous intervention who developed a new-onset second-degree AV block, Mobitz type 1 Wenckebach rhythm.

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18. Wieting J, Baumann MV, Deest-Gaubatz S, Bleich S, Eberlein CK, Frieling H, Deest M. Structured neurological soft signs examination reveals motor coordination deficits in adults diagnosed with high-functioning autism. Sci Rep;2024 (Jul 12);14(1):16123.

Neurological soft signs (NSS), discrete deficits in motor coordination and sensory integration, have shown promise as markers in autism diagnosis. While motor impairments, partly associated with core behavioral features, are frequently found in children with autism, there is limited evidence in adults. In this study, NSS were assessed in adults undergoing initial diagnosis of high-functioning autism (HFA), a subgroup difficult to diagnose due to social adaptation and psychiatric comorbidity. Adults with HFA (n = 34) and 1:1 sex-, age-, and intelligence-matched neurotypical controls were administered a structured NSS examination including motor, sensory, and visuospatial tasks. We showed that adults with HFA have significantly increased motor coordination deficits compared with controls. Using hierarchical cluster analysis within the HFA group, we also identified a subgroup that was particularly highly affected by NSS. This subgroup differed from the less affected by intelligence level, but not severity of autism behavioral features nor global psychological distress. It remains questionable whether motor impairment represents a genuinely autistic trait or is more a consequence of factors such as intelligence. Nevertheless, we conclude that examining NSS in terms of motor coordination may help diagnose adults with HFA and identify HFA individuals who might benefit from motor skills interventions.

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19. Winnemuller A, Heijnen-Kohl SMJ, van Alphen SPJ. More attention for the detection of comorbid autism spectrum disorders in behavioral and psychological symptoms of dementia. Int J Geriatr Psychiatry;2024 (Jul);39(7):e6124.

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20. Yang KL, Yen TA, Lin FJ, Hsu CN, Wang CC. Antibiotic use and risk of autism spectrum disorder and attention-deficit/hyperactivity disorder: a population-based cohort study. Child Adolesc Psychiatry Ment Health;2024 (Jul 11);18(1):82.

BACKGROUND: The gut microbiota is believed to influence neurodevelopment through the gut-brain axis, but prior studies have shown inconsistent results regarding early childhood antibiotic exposure and subsequent risk of autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD). The purpose of this study was to evaluate the hypothesis that exposure to antibacterial agents in the first 2 years of life increases the risk of ASD and/or ADHD. METHODS: This was a retrospective cohort study using 2003-2019 data from the National Health Insurance Research Database in Taiwan. Livebirths born between 2004 and 2016 were identified and separated into singleton, full sibling, and exposure-discordant sibling pair cohorts. The exposure group included children who filled at least one prescription for antibacterial agents between 0 and 2 years old in outpatient settings. The outcome, ASD and/or ADHD, was defined by at least one inpatient or outpatient diagnosis. The maximum follow-up age was 15 years in this study. Potential neonatal, maternal and paternal confounders were adjusted for. Cox proportional hazards models were used to estimate the relative event risk. RESULTS: The final sample contained 946,581 children in the singleton cohort, 1,142,693 children in the full sibling cohort, and 352,612 children in the exposure-discordant sibling pair cohort. Antibiotic exposure marginally increased the risk of ASD and/or ADHD in the singleton cohort (adjusted hazard ratio [aHR]: 1.06, 95% confidence interval [CI]: 1.04-1.07) and in the full sibling cohort (aHR: 1.03, 95% CI: 1.01-1.04). A slight decrease in the risk of ASD and/or ADHD was observed in the exposure-discordant sibling pair cohort (aHR: 0.92, 95% CI: 0.90-0.94). CONCLUSIONS: The results suggest that early life antibiotic exposure has minimal impact on the risk of ASD and/or ADHD. Given that the estimated effects are marginal and close to null, concerns about ASD and/or ADHD risk increase should not postpone or deter timely and reasonable antibiotic use.

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21. Zhang W, Mou Z, Zhong Q, Liu X, Yan L, Gou L, Chen Z, So KF, Zhang L. Transcutaneous auricular vagus nerve stimulation improves social deficits through the inhibition of IL-17a signaling in a mouse model of autism. Front Psychiatry;2024;15:1393549.

BACKGROUND: Maternal exposure to inflammation is one of the causes of autism spectrum disorder (ASD). Electrical stimulation of the vagus nerve exerts a neuroprotective effect via its anti-inflammatory action. We thus investigated whether transcutaneous auricular vagus nerve stimulation (taVNS) can enhance social abilities in a mouse model of ASD induced by maternal immune activation (MIA). METHODS: ASD mouse model were constructed by intraperitoneal injection of polyinosinic:polycytidylic acid (poly (I:C)). TaVNS with different parameters were tested in ASD mouse model and in C57BL/6 mice, then various behavioral tests and biochemical analyses related to autism were conducted. ASD model mice were injected with an interleukin (IL)-17a antibody into the brain, followed by behavioral testing and biochemical analyses. RESULTS: TaVNS reduced anxiety, improved social function, decreased the number of microglia, and inhibited M1 polarization of microglia. Additionally, taVNS attenuated the expression of the IL-17a protein in the prefrontal cortex and blood of ASD model mice. To examine the possible involvement of IL-17a in taVNS-induced neuroprotection, we injected an IL-17a antibody into the prefrontal cortex of ASD model mice and found that neutralizing IL-17a decreased the number of microglia and inhibited M1 polarization. Furthermore, neutralizing IL-17a improved social function in autism model mice. CONCLUSION: Our study revealed that reduced neuroinflammation is an important mechanism of taVNS-mediated social improvement and neuroprotection against autism. This effect of taVNS could be attributed to the inhibition of the IL-17a pathway.

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