1. Anitha A, Banerjee M, Thanseem I, Prakash A, Melempatt N, Sumitha PS, Iype M, Thomas SV. Rare Pathogenic Variants Identified in Whole Exome Sequencing of Monozygotic Twins With Autism Spectrum Disorder. Pediatr Neurol;2024 (Jun 15);158:113-123.

BACKGROUND: Autism spectrum disorder (ASD) is a childhood-onset complex neurodevelopmental disorder characterized by problems with communication and social interaction and restricted, repetitive, stereotyped behavior. The prevalence of ASD is one in 36 children. The genetic architecture of ASD is complex in spite of its high heritability. To identify the potential candidate genes of ASD, we carried out a comprehensive genetic study of monozygotic (MZ) twins concordant or discordant for ASD. METHODS: Five MZ twins and their parents were recruited for the study. Four of the twins were concordant, whereas one was discordant for ASD. Whole exome sequencing was conducted for the twins and their parents. The exome DNA was enriched using Twist Human Customized Core Exome Kit, and paired-end sequencing was performed on HiSeq system. RESULTS: We identified several rare and pathogenic variants (homozygous recessive, compound heterozygous, de novo) in ASD-affected individuals. CONCLUSION: We report novel variants in individuals diagnosed with ASD. Several of these genes are involved in brain-related functions and not previously reported in ASD. Intriguingly, some of the variants were observed in the genes involved in sensory perception (auditory [MYO15A, PLEC, CDH23, UBR3, GPSM2], olfactory [OR9K2], gustatory [TAS2R31], and visual [CDH23, UBR3]). This is the first comprehensive genetic study of MZ twins in an Indian population. Further validation is required to determine whether these variants are associated with ASD.

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2. Boylu ME, Taşdemir İ, Doğan M, Özcanlı T. Forensic psychiatric assessment in autism spectrum disorder: Experience of a forensic psychiatry inpatient clinic from Türkiye. J Forensic Sci;2024 (Jul 22)

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by marked differences in communication patterns, reciprocal social interactions, and restricted, stereotyped, and repetitive interests and activities. Various behavioral problems in ASD, more so when accompanied by coexisting psychopathology, can sometimes lead to legal problems. In this study, the cases in which an opinion was requested in terms of criminal responsibility with the diagnosis of ASD in the 5-year period between 2018 and 2022 in the expertise department of psychiatric observation, where psychiatric cases were hospitalized and observed in the Council of Forensic Medicine (CFM), which is the official expert institution in Türkiye, were retrospectively evaluated. The mean age of the group whose criminal responsibility was reduced or removed was 22.9 years (±7.52) and the mean IQ score was 76.63 ± 18.94. The most common crime in this group was intentional injury (5/11), and it is noteworthy that the victims of these crimes were usually relatives of people with ASD (5/6). The criminal acts of people with ASD are usually single-movement, spontaneous, unplanned, impulsive acts. In addition, although there is no problem in cognitive perception in people with high functioning ASD (HF-ASD), various forensic situations may arise due to defects in emotional awareness. When we look at the practices of the CFM in Türkiye, it is seen that in cases where the diagnosis of ASD is clear and can be associated with the crime, criminal responsibility is usually completely eliminated. In HF-ASD types, although it is important to be associated with the crime, it is seen that criminal responsibility is generally reduced.

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3. Brown CE, Borduin CM, Sheerin KM, Kanne SM. Characteristics and correlates of aggressive behavior in autistic youths. Autism Res;2024 (Jul 22)

This study aimed to characterize aggressive behaviors in autistic youths and to identify the social environment variables most strongly linked with aggression in this clinical population. Participants were 2142 caregivers of autistic youths (ages 6.0-17.9) recruited from autism research centers across the United States. Caregivers completed self-report and behavior rating inventories that assessed both verbal and physical aggression as well as characteristics of the individual youths (sleep quality, gastrointestinal [GI] symptoms, and autism characteristics) and their families (caregiver stress, global family functioning, and sibling relations), peers (emotional bonding, number of friends), schools (academic functioning), and neighborhoods (perceived community safety). We used descriptive analyses to identify which aggressive acts were most common among autistic youths, and we performed bivariate correlations and multiple linear regression analyses to determine which characteristics of the youths and their social environments were most strongly linked with youth aggression. Verbally aggressive youth behaviors were endorsed by caregivers most frequently. Youth age and sex were not associated with verbal or physical aggression. A combination of youth and social environment characteristics accounted for 42.6% of the variance in verbal aggression and 26.0% of the variance in physical aggression. Thus, those characteristics most strongly linked with verbal and physical aggression were strained sibling relations, caregiver stress, youth sleep problems, and youth repetitive and restrictive behaviors. Viewed together, the results suggest that aggressive behaviors in autistic youths are associated with multiple characteristics pertaining to the individual youths and their immediate social environments. Implications for treatment and research are discussed.

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4. Choi JH, Marsal-García L, Peraldi E, Walters C, Huang Z, Gantois I, Sonenberg N. Early metformin treatment: An effective approach for targeting fragile X syndrome pathophysiology. Proc Natl Acad Sci U S A;2024 (Jul 30);121(31):e2407546121.

Fragile X syndrome (FXS) is the most common genetic cause of autism spectrum disorder engendered by transcriptional silencing of the fragile X messenger ribonucleoprotein 1 (FMR1) gene. Given the early onset of behavioral and molecular changes, it is imperative to know the optimal timing for therapeutic intervention. Case reports documented benefits of metformin treatment in FXS children between 2 and 14 y old. In this study, we administered metformin from birth to Fmr1(-/y) mice which corrected up-regulated mitogen-2 activated protein kinase/extracellular signal-regulated kinase and mammalian/mechanistic target of rapamycin complex 1 signaling pathways and specific synaptic mRNA-binding targets of FMRP. Metformin rescued increased number of calls in ultrasonic vocalization and repetitive behavior in Fmr1(-/y) mice. Our findings demonstrate that in mice, early-in-life metformin intervention is effective in treating FXS pathophysiology.

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5. Cleary M, West S, Thapa DK, Hungerford C, McLean L, Johnston-Devin C, Kornhaber R. A Scoping Review of Equine-Assisted Therapies on the Mental Health and Well-Being of Autistic Children and Adolescents: Exploring the Possibilities. Issues Ment Health Nurs;2024 (Jul 23):1-13.

Animals are increasingly being utilized to assist with therapies for people with various health conditions. Horses are often used as a mechanism of engagement and development for autistic children and adolescents. Horses offer a unique opportunity for interaction as the child or adolescent can physically ride and interact with the animal, thus creating a therapy that involves contact that is different to other animals. Benefits derived from equine-assisted therapies can be physical, social, behavioral, emotional, sensory, and cognitive. However, a current and specific research gap exists in understanding the potential mental health impacts of horse riding on autistic children and adolescents, as perceived and experienced by their parents, carers, and horse-riding service providers. This scoping review examined research on parents’ and service providers’ perceptions of the benefits of horse-related therapies, with a particular focus on perceptions of positive mental health impacts. A comprehensive electronic search across PubMed, Scopus and Cumulative Index to Nursing and Allied Health Literature identified 16 articles from 15 studies which met the inclusion criteria. Findings included non-mental health-related benefits (as perceived by parents and service providers), mental health-related benefits (as perceived by parents and service providers), benefits for those other than the child/adolescent, and limitations of equine-assisted therapies. With the increased use of equine therapy, and the mounting evidence of its positive impacts on mental health, it is timely to expand research on how to better harness interventions and maximize the mental health benefits for autistic children and adolescents.

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6. De Marzio M, Lasky-Su J, Chu SH, Prince N, Litonjua AA, Weiss ST, Kelly RS, Glass KR. The metabolic role of vitamin D in children’s neurodevelopment: a network study. Sci Rep;2024 (Jul 23);14(1):16929.

Neurodevelopmental disorders are rapidly increasing in prevalence and have been linked to various environmental risk factors. Mounting evidence suggests a potential role of vitamin D in child neurodevelopment, though the causal mechanisms remain largely unknown. Here, we investigate how vitamin D deficiency affects children’s communication development, particularly in relation to Autism Spectrum Disorder (ASD). We do so by developing an integrative network approach that combines metabolomic profiles, clinical traits, and neurodevelopmental data from a pediatric cohort. Our results show that low levels of vitamin D are associated with changes in the metabolic networks of tryptophan, linoleic, and fatty acid metabolism. These changes correlate with distinct ASD-related phenotypes, including delayed communication skills and respiratory dysfunctions. Additionally, our analysis suggests the kynurenine and serotonin sub-pathways may mediate the effect of vitamin D on early life communication development. Altogether, our findings provide metabolome-wide insights into the potential of vitamin D as a therapeutic option for ASD and other communication disorders.

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7. Duff C, Lyons A, Bohan E, Mulvihill A, S NC, Howard R, Flanagan O. LILAC – An Integrated Approach to Diagnosis and Intervention in Autism Spectrum Disorder. Ir Med J;2024 (Jun 27);117(6):974.

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8. Flaifl Y, Hassona Y, Altoum D, Flaifl N, Taimeh D. Online information about oral health in autism spectrum disorder: Is it good enough?. Spec Care Dentist;2024 (Jul 23)

INTRODUCTION: The use of the internet has surged significantly over the years. Patients and caregivers of patients with autism spectrum disorder (ASD) might consult the internet for oral health-related information. Hence, this study aimed to assess the quality and readability of online information available in the English language regarding oral health in ASD. METHODS: Online search using Google.com was conducted using the terms « Autism and dental care, » « Autism and oral health, » and « Autism and dentistry ». The first 100 websites for each term were screened. Quality of information was assessed using the Patient Education Materials Assessment Tool for printed material (PEMAT-P) and the Journal of American Medical Association (JAMA) benchmarks. A PEMAT score higher than 70% is considered acceptable for readability and actionability. The JAMA benchmarks are authorship, attribution, disclosure, and currency. Readability was evaluated using the Flesch reading ease score and Simple Measure of Gobbledygook (SMOG) readability formula. RESULTS: Out of the 300 screened websites, 66 were eventually included. The mean PEMAT understandability and actionability scores were 77.13%, and 42.12%, respectively. Only 12.1% of the websites displayed all four JAMA benchmarks. The mean Flesch score was 10th-12th grade level, and the mean SMOG score was 10th grade level. CONCLUSION: While the understandability of the information was acceptable, the readability and actionability were too challenging for lay people. Health care professionals and organizations involved in patient education should place more efforts in promoting the quality of online information targeting patients with ASD.

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9. Funawatari R, Sumiya M, Iwabuchi T, Nishimura T, Komeda H, Senju A. Camouflaging in Autistic Adults is Modulated by Autistic and Neurotypical Characteristics of Interaction Partners. J Autism Dev Disord;2024 (Jul 23)

Many autistic people reportedly engage in camouflaging to navigate everyday social interactions; however, the function of this behavior remains largely unknown. We hypothesized that autistic people camouflage more toward neurotypical others than toward autistic others, employing it as a strategy to « fit in » within the neurotypical-majority community. This study aimed to empirically investigate this hypothesis for the first time. Autistic and neurotypical participants took part in a web-based survey. Data from 48 autistic and 137 neurotypical participants were analyzed. Camouflaging toward autistic and neurotypical others was separately measured using the modified Camouflaging Autistic Traits Questionnaire (CAT-Q). For each CAT-Q item, a sentence describing a hypothetical interaction partner with autistic or neurotypical characteristics was added, creating respective sentence conditions. The interaction effect of the participants’ characteristics and sentence conditions was analyzed using a multilevel regression analysis, accounting for differing individual baselines. The analysis revealed an interaction effect between participants’ characteristics and sentence conditions. The autistic group showed significantly more camouflaging in the autistic sentence condition than in the neurotypical sentence condition. Conversely, the neurotypical group did not differ significantly in camouflaging levels in the sentence conditions. Contrary to our hypothesis, autistic people demonstrated more camouflaging toward autistic others than toward neurotypical others. This finding questions the assumption that autistic people camouflage to assimilate into a neurotypical-majority society. Instead, it could be conceptualized as a more general social strategy used by autistic people aiming to improve their relationships with others.

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10. Gao Z, Luo H, Li T, Zhao J. The Relationship Between Theory of Mind and Listening Comprehension Among Chinese Preschoolers with and without Autism Spectrum Disorder. J Autism Dev Disord;2024 (Jul 23)

The study aimed to examine the performance on linguistic and cognitive tasks among Chinese preschool children with and without autism spectrum disorder (ASD) and explore the direct and indirect relationships between theory of mind (ToM) and literal and inferential listening comprehension. Forty-nine (N = 49) children with ASD and fifty-two (N = 52) age- and gender-matched typically developing (TD) children participated in the study. All participants were administered tasks evaluating their listening comprehension of literal and inferential statements, ToM, as well as verbal and nonverbal IQ. Results showed that the ASD group performed statistically worse on listening comprehension, ToM abilities, verbal IQ, and nonverbal IQ than their TD peers. Further, we found statistically significant correlations between general ToM performance and overall listening comprehension among Chinese preschool children with and without ASD. More specifically, ToM abilities of children with ASD had an indirect effect on their literal listening comprehension via the mediation of verbal IQ, whereas ToM performance among TD children predicted their literal listening comprehension via the mediation of nonverbal IQ. The major findings were discussed in detail based on the situation model. The research facilitated insights into listening comprehension among Chinese preschool children with and without ASD, providing their caregivers and teachers with viable strategies to improve their listening comprehension.

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11. Hirai T, Umeda N, Harada T, Okumura A, Nakayasu C, Ohto-Nakanishi T, Tsuchiya KJ, Nishimura T, Matsuzaki H. Arachidonic acid-derived dihydroxy fatty acids in neonatal cord blood relate symptoms of autism spectrum disorders and social adaptive functioning: Hamamatsu Birth Cohort for Mothers and Children (HBC Study). Psychiatry Clin Neurosci;2024 (Jul 23)

AIM: Autism spectrum disorder (ASD) is associated with abnormal lipid metabolism, such as a high total ratio of omega-6 to omega-3 in polyunsaturated fatty acids (PUFAs). PUFAs are metabolized to epoxy fatty acids by cytochrome P450 (CYP); then, dihydroxy fatty acid is produced by soluble epoxide hydrolase. This study examined the association between PUFA metabolites in the cord blood and ASD symptoms and adaptive functioning in children. METHODS: This prospective cohort study utilized cord blood to quantify PUFA metabolites of the CYP pathway. The Autism Diagnostic Observation Schedule (ADOS-2) and Vineland Adaptive Behaviors Scales, Second Edition (VABS-II) were used to assess subsequent ASD symptoms and adaptive functioning in children at 6 years. The analysis included 200 children and their mothers. RESULTS: Arachidonic acid-derived diols, 11,12-diHETrE was found to impact ASD symptom severity on the ADOS-2-calibrated severity scores and impairment in the socialization domain as assessed by the VABS-II (P = 0.0003; P = 0.004, respectively). High levels of 11,12-diHETrE impact social affect in ASD symptoms (P = 0.002), while low levels of 8,9-diHETrE impact repetitive/restrictive behavior (P = 0.003). Notably, there was specificity in the association between diHETrE and ASD symptoms, especially in girls. CONCLUSION: These findings suggest that the dynamics of diHETrE during the fetal period is important in the developmental trajectory of children after birth. Given that the role of diol metabolites in neurodevelopment in vivo is completely uncharacterized, the results of this study provide important insight into the role of diHETrE and ASD pathophysiology.

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12. Jiang R, Huang W, Qiu X, Chen J, Luo R, Zeng R, Tong S, Lyu Y, Sun P, Lian Q, Leung FW, Liu Y, Sha W, Chen H. Unveiling promising drug targets for autism spectrum disorder: insights from genetics, transcriptomics, and proteomics. Brief Bioinform;2024 (May 23);25(4)

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder for which current treatments are limited and drug development costs are prohibitive. Identifying drug targets for ASD is crucial for the development of targeted therapies. Summary-level data of expression quantitative trait loci obtained from GTEx, protein quantitative trait loci data from the ROSMAP project, and two ASD genome-wide association studies datasets were utilized for discovery and replication. We conducted a combined analysis using Mendelian randomization (MR), transcriptome-wide association studies, Bayesian colocalization, and summary-data-based MR to identify potential therapeutic targets associated with ASD and examine whether there are shared causal variants among them. Furthermore, pathway and drug enrichment analyses were performed to further explore the underlying mechanisms and summarize the current status of pharmacological targets for developing drugs to treat ASD. The protein-protein interaction (PPI) network and mouse knockout models were performed to estimate the effect of therapeutic targets. A total of 17 genes revealed causal associations with ASD and were identified as potential targets for ASD patients. Cathepsin B (CTSB) [odd ratio (OR) = 2.66 95, confidence interval (CI): 1.28-5.52, P = 8.84 × 10-3], gamma-aminobutyric acid type B receptor subunit 1 (GABBR1) (OR = 1.99, 95CI: 1.06-3.75, P = 3.24 × 10-2), and formin like 1 (FMNL1) (OR = 0.15, 95CI: 0.04-0.58, P = 5.59 × 10-3) were replicated in the proteome-wide MR analyses. In Drugbank, two potential therapeutic drugs, Acamprosate (GABBR1 inhibitor) and Bryostatin 1 (CASP8 inhibitor), were inferred as potential influencers of autism. Knockout mouse models suggested the involvement of the CASP8, GABBR1, and PLEKHM1 genes in neurological processes. Our findings suggest 17 candidate therapeutic targets for ASD and provide novel drug targets for therapy development and critical drug repurposing opportunities.

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13. Kumar MA, N S. Effect of Video Modeling With Simulation on Improving Menstrual Hygiene Skills for Adolescents With Autism Spectrum Disorder. Cureus;2024 (Jun);16(6):e62847.

Background Menstruation is a biological process experienced by women every month. This project intends to improve menstrual hygiene skills using video modeling with simulation. Educating adolescent girls with autism spectrum disorder to engage in personal care during their menstrual cycle, particularly sanitation and hygiene, is essential. It is important to develop the knowledge and skills necessary for effective self-care during menstruation to prevent sexual health problems. Additionally, the project aims to provide a safe environment for adolescents to practice their menstrual hygiene routines and relieve the stress from their caregivers. Aim and objective The study aims to evaluate the effect of video modeling with simulation to improve menstrual hygiene skills in adolescents with autism. The ultimate objective of the study is to determine whether video modeling with simulation in the experimental group enhances the practice of menstrual hygiene among adolescent girls with autism, as well as the impact of traditional occupational therapy intervention on improving menstrual hygiene in this population. Methodology This is a quasi-experimental design with convenience sampling and selected samples (n=50), who were then split into two groups: an experimental group (n=25) and a control group (n=25) based on the inclusion and exclusion criteria. The experimental group received video modeling and simulation, while the control group did not receive any specific intervention except parent education and pictorial representations. Pre- and post-tests were conducted to measure the changes. Indian Scale for Assessment of Autism was the screening tool used and the Menstrual Practice Needs Scale (MNPS) was administered. The duration of the study was six months, three sessions per week, lasting 45 minutes to an hour each. The statistical analysis was done with significance at a 1% alpha level using IBM SPSS Statistics for Windows, Version 26 (Released 2019; IBM Corp., Armonk, NY, USA). Results The pre-test and post-test data were analyzed using the Wilcoxon signed-rank test and the Mann-Whitney test. The results demonstrated the comparison of the pre-test and post-test mean scores of the MNPS scores were highly statistically significant (p-value of 0.000) when compared to the control group. Following the implementation of video modeling with simulation, the experimental group’s post-test scores were significantly higher than the control group’s (p-value of 0.000). Thus, the study showed that video modeling with simulation improved menstrual hygiene in adolescents with autism spectrum disorder. Conclusion The clinical significance of this study was that the adolescents were excited to watch the videos and perform the activities; furthermore, after video modeling with simulation was implemented, there was a significant improvement in the experimental group when compared to the control group. This enhances the practice of the menstrual hygiene skills independently by the adolescents. Video modeling with simulation has paved the way for improving menstrual hygiene in adolescents with autism. Although the findings from the study are positive, more clinical trials are needed to prove that video modeling with simulation can be used as a therapeutic modality.

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14. LaGasse B, Yoo GE, Hardy MW. Rhythm and music for promoting sensorimotor organization in autism: broader implications for outcomes. Front Integr Neurosci;2024;18:1403876.

Emerging research suggests that music and rhythm-based interventions offer promising avenues for facilitating functional outcomes for autistic individuals. Evidence suggests that many individuals with ASD have music processing and production abilities similar to those of neurotypical peers. These individual strengths in music processing and production may be used within music therapy with a competence-based treatment approach. We provide an updated perspective of how music and rhythm-based interventions promote sensory and motor regulation, and how rhythm and music may then impact motor, social, and communicative skills. We discuss how music can engage and motivate individuals, and can be used intentionally to promote skill acquisition through both structured and flexible therapeutic applications. Overall, we illustrate the potential of music and rhythm as valuable tools in addressing skill development in individuals on the autism spectrum.

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15. Lu X, Ni P, Suarez-Meade P, Ma Y, Forrest EN, Wang G, Wang Y, Quiñones-Hinojosa A, Gerstein M, Jiang YH. Transcriptional determinism and stochasticity contribute to the complexity of autism-associated SHANK family genes. Cell Rep;2024 (Jul 23);43(7):114376.

Precision of transcription is critical because transcriptional dysregulation is disease causing. Traditional methods of transcriptional profiling are inadequate to elucidate the full spectrum of the transcriptome, particularly for longer and less abundant mRNAs. SHANK3 is one of the most common autism causative genes. Twenty-four Shank3-mutant animal lines have been developed for autism modeling. However, their preclinical validity has been questioned due to incomplete Shank3 transcript structure. We apply an integrative approach combining cDNA-capture and long-read sequencing to profile the SHANK3 transcriptome in humans and mice. We unexpectedly discover an extremely complex SHANK3 transcriptome. Specific SHANK3 transcripts are altered in Shank3-mutant mice and postmortem brain tissues from individuals with autism spectrum disorder. The enhanced SHANK3 transcriptome significantly improves the detection rate for potential deleterious variants from genomics studies of neuropsychiatric disorders. Our findings suggest that both deterministic and stochastic transcription of the genome is associated with SHANK family genes.

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16. Ouisselsat M, El Maouaki A, Maidoumi S, François Y, Pineau A, Sedki A. Assessment of Essential and Toxic Element Levels in the Toenails of Children with Autism Spectrum Disorder. Biol Trace Elem Res;2024 (Jul 23)

Autism spectrum disorder (ASD) has become a global public health concern, impacting the quality of life. The question of gene-environment interaction in the emergence of ASD remains a subject of ongoing debate, and exploring its pathophysiology is thoroughly related to metals as a risk factor. Therefore, this study aims to assess the levels of toxic (Al, Cd, Hg, and Pb) and essential (Cr, Mn, Fe, Ni, Cu, Zn, and Se) elements in toenail samples collected in children with ASD and neurotypical children, by ICP-MS. Parallelly, we will discuss the use of toenails as an exposure indicator. The study involved 208 children aged 3 to 14 from Marrakech, Morocco. One hundred two were diagnosed with ASD and 106 were neurotypical children. Significant statistical differences in the concentration of Cr, Mn, and Fe were documented between the two groups. Higher levels of Pb in toenails compared to reference values have been reported. No association was established between concentrations of elements and age. Spearman correlation coefficients revealed a significantly different pattern of mutual dependence for toxic and essential elements between the two groups. The strongest positive correlations were found in the neurotypical group (Fe-Mn (ρ = 0.750), and Se-Zn (ρ = 0.800)). These results provide additional, although inconclusive, evidence on the probable role of element disturbance in the pathogenesis of ASD. Further studies should be performed to explore other nutritional, cultural, sociodemographic, environmental, and methodological factors that may impact the levels of these elements in the nails and their possible correlation with the incidence of ASD.

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17. Quadt L, Csecs J, Bond R, Harrison NA, Critchley HD, Davies KA, Eccles J. Childhood neurodivergent traits, inflammation and chronic disabling fatigue in adolescence: a longitudinal case-control study. BMJ Open;2024 (Jul 22);14(7):e084203.

OBJECTIVES: To test whether inflammatory processes link the expression of childhood neurodivergent traits to chronic disabling fatigue in adolescence. DESIGN: Longitudinal case-control study. SETTING: We analysed data from The Avon Longitudinal Study of Parents and Children (ALSPAC). PARTICIPANTS: 8115 and 8036 children of the ALSPAC cohort at ages 7 and 9 years, respectively, 4563 of whom also completed self-report measures at age 18 years. PRIMARY AND SECONDARY OUTCOME MEASURES: We assessed if children scoring above screening threshold for autism/attention deficit hyperactivity disorder (ADHD) at ages 7 and 9 years had increased risk of chronic disabling fatigue at age 18 years, computing ORs and CIs for effects using binary logistic regression. Mediation analyses were conducted to test if an inflammatory marker (interleukin 6 (IL-6)) at age 9 years linked neurodivergent traits to chronic disabling fatigue at age 18 years. RESULTS: Children with neurodivergent traits at ages 7 and 9 years were two times as likely to experience chronic disabling fatigue at age 18 years (likely ADHD OR=2.18 (95% CI=1.33 to 3.56); p=0.002; likely autism OR=1.78 (95% CI=1.17 to 2.72); p=0.004). Levels of IL-6 at age 9 were associated with chronic disabling fatigue at age 18 (OR=1.54 (95% CI=1.13 to 2.11); p=0.006). Inflammation at age 9 years mediated effects of neurodivergent traits on chronic disabling fatigue (indirect effect via IL-6: ADHD b=1.08 (95% CI=1.01 to 1.15); autism b=1.06; (95% CI=1.03 to 1.10)). All effects remained significant when controlling for the presence of depressive symptoms. CONCLUSIONS: Our results indicate higher risk of chronic disabling fatigue for children with neurodivergent traits, likely linked to higher levels of inflammation. The implementation of transdiagnostic screening criteria to inform support strategies to counteract risk early in life is recommended.

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18. Samoylov I, Arcara G, Buyanova I, Davydova E, Pereverzeva D, Sorokin A, Tyushkevich S, Mamokhina U, Danilina K, Dragoy O, Arutiunian V. Altered neural synchronization in response to 2 Hz amplitude-modulated tones in the auditory cortex of children with Autism Spectrum Disorder: An MEG study. Int J Psychophysiol;2024 (Jul 23);203:112405.

OBJECTIVE: Some studies have hypothesized that atypical neural synchronization at the delta frequency band in the auditory cortex is associated with phonological and language skills in children with Autism Spectrum Disorder (ASD), but it is still poorly understood. This study investigated this neural activity and addressed the relationships between auditory response and behavioral measures of children with ASD. METHODS: We used magnetoencephalography and individual brain models to investigate 2 Hz Auditory Steady-State Response (ASSR) in 20 primary-school-aged children with ASD and 20 age-matched typically developing (TD) controls. RESULTS: First, we found a between-group difference in the localization of the auditory response, so as the topology of 2 Hz ASSR was more superior and posterior in TD children when comparing to children with ASD. Second, the power of 2 Hz ASSR was reduced in the ASD group. Finally, we observed a significant association between the amplitude of neural response and language skills in children with ASD. CONCLUSIONS: The study provided the evidence of reduced neural response in children with ASD and its relation to language skills. SIGNIFICANCE: These findings may inform future interventions targeting auditory and language impairments in ASD population.

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19. Soni V, LoTurco JJ. KATNAL2 mutations link ciliary dysfunction to hydrocephalus and autism. Proc Natl Acad Sci U S A;2024 (Jul 23);121(30):e2410761121.

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20. Stahmer AC, Yu Y, Suhrheinrich J, Melgarejo M, Schetter P. Correction: The Role of Implementation Climate in Moderating Educator Use of Evidence-Based Practices and Outcomes for Autistic Students. J Autism Dev Disord;2024 (Jul 23)

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21. Tartaglione AM, Camoni L, Calamandrei G, Chiarotti F, Venerosi A. The contribution of environmental pollutants to the risk of autism and other neurodevelopmental disorders: A systematic review of case-control studies. Neurosci Biobehav Rev;2024 (Jul 23);164:105815.

Exposure to environmental pollutants, such as metals, pesticides, and air pollutants during early life, is a risk factor for neurodevelopmental disorders (NDDs), including Autism Spectrum Disorder (ASD). Our systematic review aimed to select and summarize more recent case-control studies that examined the association between prenatal and early postnatal exposure to environmental pollutants and NDDs. We searched five databases (Web of Science, PubMed, Embase, Scopus, Ovid), screened 2261 records, and included 24 eligible case-control studies. Meta-analyses were conducted on subgroups of at least three studies that shared both the outcome and the exposure. A noteworthy discovery from this literature review is the existence of non-linear or non-monotonic dose-response relationships between the exposure to certain metals and the risk of ASD. The meta-analysis revealed a significant association between exposure to particular matter (PM)(10) during the first year of life and the risk of ASD. Overall, studies included in our systematic review indicate that exposure to several pollutants within the first three years of life was significantly associated with the risk of NDDs.

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22. Tuckerman J, Mohamed Y, Justice F, Andersson T, Wyatt K, Broun K, Bastable A, Overmars I, Kaufman J, Danchin M. Stakeholder perspectives of immunisation delivery for adolescents with disability in specialist schools in Victoria, Australia: ‘we need a vaccination pathway’. BMC Public Health;2024 (Jul 23);24(1):1973.

BACKGROUND: Adolescents with disability have lower vaccination rates than the general population, including HPV vaccination. Understanding the multi-level influences on vaccination in specialist schools is crucial to achieve optimal vaccination coverage and vaccination experiences for adolescents living with disability. OBJECTIVE: To identify and improve understanding of the facilitators and barriers of HPV vaccination among adolescents with intellectual disabilities or autism in Victorian specialist schools to inform strategies to increase vaccination acceptance and uptake. METHODS: Qualitative interviews with key stakeholders (adolescents with disabilities, parents, school and council immunisation staff) from six specialist schools in Victoria, Australia. Data were analysed thematically. Inductively derived themes were then deductively mapped across the UNICEF ‘Journey to Immunization’ model. RESULTS: 32 interviews were conducted with stakeholders (2 adolescents, 7 parents, 13 school staff, 10 council staff). Trust in vaccines was high, but knowledge of the HPV vaccine was limited. Barriers included lack of accessible information for parents, the consent process, behavioural challenges and vaccine-related anxiety among students. The immunisation program in special schools was perceived as convenient, however preparing students for vaccination day and catering to individual student needs were key. Participants expressed a need for more parent information about options and additional support for vaccination outside of the school program. CONCLUSIONS: Our study identified a range of facilitators and barriers to the school immunisation program for students with disabilities in specialist schools. The next phase of this work will use co-design workshops to build on the suggestions for improvement and opportunities that could be leveraged to improve vaccination uptake.

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23. Underwood JFG, Madley-Dowd P, Dardani C, Hull L, Kwong ASF, Pearson RM, Hall J, Rai D. Childhood trauma as a mediator between autistic traits and depression: evidence from the ALSPAC birth cohort. medRxiv;2024 (Jul 12)

BACKGROUND: Autism and autistic traits have been associated with greater risk of childhood trauma and adulthood psychopathology. However, the role that childhood trauma plays in the association between autism, autistic traits and depression in adulthood is poorly understood. METHODS: We used a UK-based birth cohort with phenotype and genotype data on autism, autistic traits, childhood trauma and depression in up to 9,659 individuals prospectively followed up from birth until age 28 years. Using mixed-effects growth-curve models, we assessed trajectories of depression symptoms over time according to the presence or absence of autism/ autistic traits and explored whether these differed by trauma exposure. We further investigated the association between autism/ autistic traits and depression in adulthood using confounder-adjusted logistic regression models and undertook mediation analyses to investigate the relationship with childhood trauma. RESULTS: All autism variables demonstrated increased depressive symptom trajectories between ages 10-28 years. Social communication difficulties (SCDs) were the most strongly associated with a depression diagnosis in adulthood (age 24 OR= 2.15; 95%CIs: 1.22-3.76). Trauma and autistic traits combined to further increase depression symptom scores. Mediation analyses provided evidence for direct pathways between autistic traits and increased risk of depression alongside indirect pathways through increased risk of trauma. CONCLUSIONS: Autism/ autistic traits increase the odds of experiencing childhood trauma and of being diagnosed with depression at age 18 and 24. Depressive symptom trajectories emergent in childhood persist into adulthood. The combined effect of SCDs and childhood trauma is greater than the individual exposures, suggesting worse depression symptomatology following trauma in individuals with SCDs. LAY ABSTRACT: Autism and autistic traits are linked to higher chances of experiencing traumatic events in childhood and having mental health problems as an adult. However, we don’t understand how childhood trauma influences the link between autistic traits and depression in adulthood.Using data from a large birth cohort study in the UK, we tracked up to 9,659 people from birth until age 28 years. We looked at the links between autism, autistic traits, childhood trauma, and depression.We found that all features related to autism were associated with more symptoms of depression between the ages of 10 and 28. Among these, difficulties in social communication were the most strongly connected to depression when they reached adulthood, more than doubling the risk.We discovered that when childhood difficulties and autistic traits came together, the risk of experiencing depression symptoms increased even more. We showed that autistic traits raised the chances of depression both directly and indirectly, by increasing the chance of experiencing childhood trauma.Taken together, our research shows that autism and autistic traits increase the likelihood of experiencing childhood trauma and being diagnosed with depression at ages 18 and 24. Signs of depression that appear in childhood tend to persist into adulthood. The combination of social communication difficulties and childhood trauma has a stronger impact on depression symptoms, indicating that people with these traits may experience more severe depression after facing traumatic events.

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24. Wang T, Cheng MM, Liu WW, Tan QZ, Liu CH, Yang Y, Yang XL, Zhang YH. [Genotype and phenotype of WWOX gene related developmental and epileptic encephalopathy]. Zhonghua Er Ke Za Zhi;2024 (Aug 2);62(8):752-757.

Objective: To summarize the genotype and clinical phenotype of children with WWOX gene related developmental and epileptic encephalopathy (DEE). Methods: Case series studies. The clinical data of 12 children with WWOX gene related DEE who were admitted to the Neurological Department of Children’s Medical Center, Peking University First Hospital from June 2019 to December 2023 were analyzed. The children’s characteristics of gene variation, clinical phenotype, auxiliary examination results, treatment and prognosis were analyzed. Results: Among 12 children with WWOX gene related DEE, there were 7 boys and 5 girls, the age of seizure onset ranged from 10 days to 6 months (median 1.8 months). Multiple seizure types were observed, including focal seizures in 10 cases, epileptic spasms in 9 cases, tonic seizures in 4 cases, myoclonic seizures in 1 case. Among 12 cases, 9 cases had multiple seizure types. All 12 cases showed microcephaly and global developmental delay. Video electroencephalography showed slowed background activity in 6 cases, hyperarrhythmia in 6 cases, multifocal discharges in 6 cases, and focal discharges in 1 case. Epileptic spasms were detected in 8 cases, tonic seizures in 4 cases and myoclonic seizures in 1 case. Brain magnetic resonance imaging showed bilateral frontotemporal subarachnoid space widening in 5 cases, deep sulci in 3 cases, bilateral ventricular enlargement in 2 cases, callosal hypoplasia in 5 cases, and delayed white matter myelination in 3 cases. The phenotypes of 12 cases were consistent with the diagnosis of DEE, and 8 of them were diagnosed with infantile epileptic spasm syndrome. All the WWOX gene variants in 12 cases were complex heterozygous variants, including 20 variants, 11 variants and 1 large intragenic WWOX gene deletion (p.Ala149Thr, p.Arg156Ser, p.R167Tfs*8, p.Leu186Val, c.605+5G>A, p.Trp218*, p.His263Arg, p.Leu275fs*19*1, p.N285Kfs*10, p.Ser304Tyr, p.Met326Arg, loss1 exon2-8) had not been reported previously. The age of last follow-up ranged from 11 months to 5 years and 3 months. During the follow-up, 1 case died at the age of 1 year and 10 months, 2 cases were seizure-free, and 9 cases still had seizures after multiple anti-seizure medications. Conclusions: The seizure onset age of children with WWOX gene related DEE is usually less than 6 months, and some of them in neonate. The common seizure types include focal seizures and epileptic spasms. Children usually have microcephaly and global developmental delay. WWOX gene related DEE usually has drug refractory epilepsy.

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25. Wang Y, Yu S, Li M. Corrigendum: Neurovascular crosstalk and cerebrovascular alterations: an underestimated therapeutic target in autism spectrum disorders. Front Cell Neurosci;2024;18:1435981.

[This corrects the article DOI: 10.3389/fncel.2023.1226580.].

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26. Yang G, Wang Y, Jiang Y. Social perception of animacy: Preferential attentional orienting to animals links with autistic traits. Cognition;2024 (Jul 23);251:105900.

Animate cues enjoy priority in attentional processes as they carry survival-relevant information and herald social interaction. Whether and in what way such an attention effect is associated with more general aspects of social cognition remains largely unexplored. Here we investigated whether the attentional preference for animals varies with observers’ autistic traits – an indicator of autism-like characteristics in general populations related to one’s social cognitive abilities. Using the dot-probe paradigm, we found that animal cues can rapidly and persistently recruit preferential attention over inanimate ones in observers with relatively low, but not high, autistic traits, as measured by Autism-Spectrum Quotient (AQ). Moreover, individual AQ scores were negatively correlated with the attentional bias toward animals, especially at the early orienting stage. These results were not simply due to low-level visual factors, as inverted or phase-scrambled pictures did not yield a similar pattern. Our findings demonstrate an automatic and enduring attentional bias beneficial to both rapid detection and continuous monitoring of animals and reveal its link with autistic traits, highlighting the critical role of animacy perception in the architecture of social cognition.

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27. Zhong X, He M, Lei L, Li X, Pan C, Wang B, Pen L, Li X. Validation of the Chinese version of the autism spectrum knowledge scale general population version (ASKSG) with a parent sample. J Pediatr Nurs;2024 (Jul 23)

BACKGROUND: The early detection and diagnosis of autism spectrum disorder (ASD) in children are a first step in determining follow-up assessments and personalized treatment plans. Parents play an extremely crucial role in children’s development; therefore, it is essential to identify a valid and reliable instrument to evaluate the knowledge of parents about ASD. The aim of this study was to translate and determine the psychometric properties of the Autism Spectrum Knowledge Scale General Population Version (ASKSG) with a parent sample. DESIGN AND METHODS: A cross-sectional study was conducted with 858 parents of children aged 0-14 years in China. The demographic characteristics form and ASKSG were used for data collection. The psychometric properties of the ASKSG were evaluated by examining reliability, exploratory factor analysis (EFA), categorical confirmatory factor analysis (CCFA), unidimensionality, person and item reliability, item fit and item difficulty, and item-person mapping. RESULTS: The Cronbach’s alpha coefficient of the ASKSG was 0.865. In terms of EFA, principal component analysis revealed a fixed number of five factors, explaining 41.642% of the total variance. For the CCFA, the structure of the thematically derived five-factor model was observed to be a marginal fit to the data. The eigenvalue was 31.00, with a variance of 62.7%. The person reliability was 0.85, and the person separation was 2.38. The item reliability was 1.00, and the item separation was 15.02. The infit and outfit statistical analysis fell within acceptable ranges from 0.75 to 1.35, and the item difficulty ranged from -2.43 to 2.44. An item-person map with excellent targeting would be symmetric along the vertical axis from more difficult endorsement at the top (question 1 and question 20) to easier endorsement at the bottom (question 1). Some items do appear to function differently across sexes, and they assess the latent trait unequally across both sexes. CONCLUSIONS: The Chinese version of the ASKSG is a reliable and valid tool for assessing knowledge of parents about ASD. PRACTICE IMPLICATIONS: Chinese ASKSG now offers medical professionals and teachers a robust means of assessing parental knowledge about ASD. Therefore, professionals may use the scale to help them screen or identify parents who are in need of additional support or advice.

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