1. Abe-Hatano C, Inoue K, Takeshita E, Kawai Y, Tokunaga K, Goto YI. WDR45 variants as a major cause for a clinically variable intellectual disability syndrome from early infancy in females. J Med Genet. 2024; 61(12): 1119-22.

Pathogenic variants of WD repeat domain 45 (WDR45) cause neurodegeneration with brain iron accumulation 5 (NBIA5), which is characterised by progressive neurological regression and brain iron accumulation in adulthood. Early diagnosis of NBIA5 patients is difficult because they often show only a non-specific developmental delay in childhood, but it is essential for lifelong medical management. We investigated 32 females with developmental delays for coding variants of WDR45 using Sanger sequencing. Whole-genome sequencing (WGS) and X chromosome inactivation (XCI) analysis were also performed. We identified two disease-causing variants, one of which was a novel stop-loss variant, c.1051delG p.(Val351CysfsTer60), in a female with severe developmental delay from early infancy with epileptic spasms. The XCI analysis (which we originally developed) suggested a random pattern in white blood cells. WGS did not reveal any other pathogenic variants, including those in two iron transporter genes. Together with our previous findings in the WGS study, WDR45 variants accounted for 12% (6/51) of the females with developmental delay, suggesting that WDR45 is a major gene in females with developmental delay. Pathogenic variants of WDR45 result in various phenotypes that do not necessarily correlate with variant types or XCI skewing patterns.

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2. Asif L, Staggers KA, Kemere KJ, Davis A, Fremion E. Racial/Ethnicity Disparities in COVID-19 Worry for Caregivers of Adults With Intellectual and Developmental Disabilities. Intellect Dev Disabil. 2024; 62(6): 446-58.

This study investigated the racial/ethnic differences in COVID-19-related worry amongst family caregivers of adults with intellectual and developmental disabilities (IDD) living in Texas using the COVID-Related Thoughts and Behavioral Symptoms-Adult Version (COV-TaBS-A) questionnaire. Two hundred and six caregivers completed the survey. Compared to White caregivers, Latino caregivers were more likely to be very concerned about having enough food and supplies (adj OR 3.41, 95% CI [1.50, 7.74]) when adjusting for being that sole caregiver and using provider services. In free text questions, caregivers described feeling overwhelmed by additional responsibilities, disruptions in home health services, and concerns about their loved ones’ wellness. Study findings can be used to strategize support for caregivers of adults with IDD during pandemic/emergency situations.

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3. Black MH, Bölte S. Eating Disorder Treatments Are Less Effective for Autistic Populations: Proposing Steps Toward Improving Outcomes. Int J Eat Disord. 2024.

The recent mixed-methods review by Nimbley et al. (2024) raises important and concerning, yet not unexpected, insights into the usefulness of eating disorder (ED) treatment for autistic populations. In their review, Nimbley et al. find that ED treatments may be less effective for autistic groups, proposing a need for a greater understanding of ED in autistic populations, and more autism-informed measures and interventions for EDs. We take the opportunity in this commentary to further expand on the next steps that must be taken to inform future ED interventions for autistic populations. We reflect on similar observations of the impact of co-occurrence on intervention efficacy in autism, draw on contemporary movements in relation to interventions in the context of autism, and align with the conclusions of Nimbley et al., who propose that future ED interventions may need to be tailored to autistic populations. We present participatory and co-creation research approaches as a means to achieve this.

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4. Bricout VA, Covain S, Paterno J, Guinot M. Sex Differences in Sleep and Physical Activity Patterns in Autism Spectrum Disorder. Clocks Sleep. 2024; 6(4): 764-76.

Physical activity (PA) programs have been found to result in improved sleep in males with autism spectrum disorder (ASD), but little is known about the female characteristics. The aim of this work was to assess sex differences in sleep and PA indices using an accelerometer over 7 days and 7 nights. Sleep and PA variables were measured with questionnaires and with accelerometry in twenty-four children with ASD (16 boys, 10.3 ± 2.8; 8 girls, 11.1 ± 3.9). Some significant differences were reported between girls and boys. The total time in bed and wake time after sleep onset (WASO) were significantly higher in girls compared to boys (p < 0.01), whereas sleep efficiency was significantly lower in girls (p < 0.01). The results obtained from the sleep questionnaire (CSHQ) show averages above the threshold of 41 in both groups (the threshold indicates the presence of sleep disorders or low sleep quality). The number of daily steps was significantly lower in the girls' group (p < 0.01), and the PA volume for vigorous and strong vigorous intensities was significantly higher in the boys' group (p < 0.01 and p < 0.05, respectively). Our results show major alterations in girls, with a low level of PA and sleep alteration. PA is a relevant non-pharmacological approach to improve sleep quality and achieve sufficient sleep duration. However, particularly for girls with ASD, more personalized approaches to improve sleep may be needed to manage specific associated disorders.

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5. Carey ME, McLean KJ, Chvasta K, de Marchena A, Roux AM. Methods to reduce fraudulent participation and highlight autistic voices in research. Autism. 2024: 13623613241298037.

Over the last decade, especially since the pandemic, more research has been happening online. Conducting research online can create opportunities to include autistic people across the world and make our studies more diverse. However, conducting research online had led to scammers, or people pretending to be autistic, participating in autism research studies. Strategies to stop scammers may accidentally leave out autistic people who have difficulty with processing time and open-ended questions. We tried out documented strategies to stop scammers from participating in autism research. We also tested new strategies to understand how helpful they are. Using these strategies, we suspected over 100 people who wanted to participate were scammers and did not invite them to participate. As researchers, we must ensure we stop scammers from participating in our studies. It’s important to highlight autistic voices and guarantee we get accurate results. However, the strategies to identify scammers may also leave out autistic people who have communication differences. This is unfair and could also make our results less reliable. The existing and new strategies to stop scammers take a lot of time and resources but they’re worth it to make sure our data are reliable, and include only autistic voices.

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6. Diemer MC, Gerstein E. Prior Diagnoses and Age of Diagnosis in Children Later Diagnosed with Autism. J Autism Dev Disord. 2024.

Awareness of autism is rising, yet social determinants of health impact ages of diagnosis, and diagnostic load. Unequal rates of diagnoses may indicate biases in the healthcare system. This study investigates six prior diagnoses (ADHD, conduct, adjustment, anxiety, mood, and intellectual disability) assigned to children who are later diagnosed with autism. The study investigates how race, sex, and geographic factors were associated with age of diagnosis and diagnostic load. A sample of 13,850 (78.16% male and 14.43% Black, with 57.95% of children living in urban regions) children aged 2-10 who were diagnosed with autism on Missouri Medicaid between 2015 and 2019 were studied. Indicated that being White, living urban, and having more prior diagnoses were associated with older age of autism diagnosis. Using logistic regressions, being White was associated with a child being more likely diagnosed with all prior diagnoses aside from intellectual disability. Being male was related to a higher likelihood of ADHD, and lower likelihood of intellectual disability. Being White was associated with higher likelihood of most diagnoses, even in urban-only samples, potentially reflecting more access to providers and office visits. Living in rural areas was also associated with earlier diagnosis and more prior diagnoses such as ADHD and conduct, which may be due to types of providers or specialists seen. Future research should look at barriers to diagnosis and the advantages and disadvantages of a higher diagnostic load.

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7. Fatoba A, Simpson C. Assessing the causal association between celiac disease and autism spectrum disorder: A two-sample Mendelian randomization approach. Autism Res. 2024.

The association between celiac disease (CD) and autism spectrum disorder (ASD) remains inconclusive. Reports from different observational studies have become controversial, necessitating exploration of the causal relationship between CD and ASD. To assess true causality, this study used a two-sample Mendelian randomization (MR) analysis to determine the causal association between CD and ASD. Summary-level data from a genome-wide association study (GWAS) of the European population were used to select instrument variables (IVs) at genome-wide significance (p < 5 × 10(-8)). The strength of IVs was also evaluated with F-statistics. The inverse variance weighted method (IVW) was the primary MR analysis, supported by other MR tests such as the weighted median method and weighted mode. The presence of horizontal pleiotropy was tested with MR-Egger and MR-PRESSO while other sensitivity analyses such as heterogeneity, leave-one-out analysis, and scatterplot were used to assess the validity of our MR results. Our study did not show an association between CD and ASD (OR, 0.994; 95% CI, 0.935-1.057; p = 0.859). There was also no evidence of horizontal pleiotropy (MR-Egger intercept = 0.015; p-value = 0.223) and heterogeneity (Q = 14.029; p-value = 0.051). These results were also complemented by the leave-one-out analyses, forest plot, and scatter plot, which showed that none of the SNPs influenced the result. The result of this study shows that CD is not causally associated with ASD.

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8. Fuentes-Albero M, Mafla-España MA, Martínez-Raga J, Cauli O. Salivary IL-1 Beta Level Associated with Poor Sleep Quality in Children/Adolescents with Autism Spectrum Disorder. Pediatr Rep. 2024; 16(4): 945-56.

BACKGROUND: Sleep disorders are common in youths with autism spectrum disorders. Inflammatory cytokines such as Il-1 beta and Il-6 in saliva have been associated with alterations in sleep quality in various conditions. We assessed whether there were associations between the salivary concentration of IL-1 beta and IL-6 and sleep quality in youths with ASD versus typically developing (TD) age- and gender-matched youths. METHOD: Forty children and adolescents with ASD or TD participated in this study (20% females). Their parents answered the items of a validated questionnaire on sleep quality (Pittsburgh Sleep Quality Index). RESULTS: The mean Pittsburgh score was significantly higher (i.e., the quality of sleep was poorer) in the ASD group (8.68 ± 0.35 (SEM), ranging from 7 to 12 points), compared to the TD group (7.35 ± 0.54 (SEM), ranging from 2 to 12 points) (p = 0.02, Mann-Whitney U test). There were no significant differences in the salivary concentration of Il-1 beta and IL-6 receptor between the two groups, but salivary IL-1 beta concentration was inversely associated with poor sleep quality in the ASD group. No associations between the salivary Il-6 concentration and sleep quality were found in either group. Linear regression analysis by separate groups revealed significant associations between the sleep quality score and the concentration of IL-1 beta in the ASD group (p = 0.01, OR = -0.53, 95% CI -0.008-0.001). In contrast, no significant associations were observed in the TD group, or for IL-6 in either group. No significant effects of sex, age, or use of psychotropic medications were found. CONCLUSIONS: Children and adolescents with ASD showed significantly poorer sleep quality based on their parents’ reports compared to the TD group, and the salivary IL-1 beta concentration was inversely associated with sleep quality only in the ASD group. Further studies on the associations between inflammatory cytokines and sleep in ASD are needed.

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9. Gardner RM, Brynge M, Sjöqvist H, Dalman C, Karlsson H. Maternal immune activation and autism in the offspring-what is the evidence for causation?. Biol Psychiatry. 2024.

The maternal immune activation hypothesis has gained attention over the past two decades as a potential contributor to the etiology of autism. This hypothesis posits that maternal conditions associated with inflammation during pregnancy may increase the risk of autism in offspring. Autism is highly heritable, and causal environmental contributors to autism largely remain elusive. We review studies on maternal conditions during pregnancy, all associated with some degree of systemic inflammation; namely, maternal infections, autoimmunity, and high BMI. We additionally review studies of inflammatory markers in biological samples collected from the mother during pregnancy or from the neonate and their relationship with autism assessed in children later in life. Recent reports indicate familial clustering of autism, autoimmunity and infections, as well as genetic correlations between autism and aspects of immune function. In light of this literature, there is an apparent risk of confounding of the reported associations between inflammatory exposures and autism by familial genetic factors in both clinical and epidemiological cohort studies. We highlight recent studies that have attempted to address potential confounding to assess evidence of causal effects of inflammation during early life in autism.

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10. Gur A, Meir YB, Edelstein M, Nagar M, Rokach Ò, Reich A, Hindi TN. Family Resilience in Families of Children With Autism Spectrum Disorders: Ecological Systems Theory Perspective. Intellect Dev Disabil. 2024; 62(6): 474-85.

Drawing on Bronfenbrenner’s ecological systems theory (1992), we asked how certain resources contribute to family resilience in families of children with ASD: family quality of life (FQOL; family resources), sense of community and loneliness (informal resources), and family-centered support provided by the state (formal resources). One hundred and twenty-one Israeli parents of children with ASD completed an online survey. Path analysis using AMOS was conducted. FQOL contributed to increased family resilience. Path analysis showed loneliness, sense of community, and services use contributed to family resilience through FQOL. Overall, the research model explained 68% of the variance in family resilience. Implications for research and practice are discussed.

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11. Jasim Tuama Ali S, Khalaj-Kondori M, Hosseinpour Feizi MA, Haghi M. Expression Levels of miR -124a, miR-545-3p and BDNF in the Peripheral Blood Mononuclear Cells Are Associated with the Severity of Autism. Rep Biochem Mol Biol. 2024; 13(1): 1-12.

BACKGROUND: People with autism frequently exhibit poor social skills, communication difficulties, and repetitive and stereotyped behaviors. MicroRNAs (miRNAs) are potential and promised targets in developing of new treatment strategies for autism. This study aimed to assess the relative expression of miR-124a, miR-34a-3p, miR-545-3p, miR-153, and BDNF in the blood samples of autistic children. METHODS: The children autism rating scale (CARS) was used to determine the severity of autism and to confirm the diagnosis. Blood samples were obtained from 50 patients and 40 age-/sex-matched healthy controls. Expressions of miR-545-3p, miR-34a-3p, miR-124a, and BDNF were evaluated using qRT-PCR. Pearson’s correlation coefficient and regression analysis were used to check correlations between relative expressions of the miRNAs and BDNF. Biomarker potencies were assessed by ROC curve analysis. RESULTS: qRT-PCR analysis showed that the relative expressions of miR-545-3p, miR-34a-3p, miR-124a, and BDNF were significantly higher in the patients’ group than the healthy controls. However, the relative expression of miR-153 was significantly lower in the case group than the control group. The relative expression of miR-124a was positively correlated with those of miR-545-3p and BDNF among the patients group. Also, the relative expressions of miR-545-3p and BDNF were positively correlated with each other. The ROC curve data also indicated that miR-124a, miR-34a-3p, miR-545-3p, miR-153, and BDNF could be possible diagnostic biomarker for CARS diagnosis (AUC=0.8328, AUC=0.8354, AUC=0.6727, AUC=0.8518 and AUC=0.8214, respectively). CONCLUSIONS: Deregulation of miR-124a, miR-454-3p and BDNF might be considered as potential biomarkers for severity of autism.

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12. Juárez JCC, Gómez AA, Díaz AES, Arévalo GS. Understanding pathophysiology in fragile X syndrome: a comprehensive review. Neurogenetics. 2024; 26(1): 6.

Fragile X syndrome (FXS) is the leading hereditary cause of intellectual disability and the most commonly associated genetic cause of autism. Historically, research into its pathophysiology has focused predominantly on neurons; however, emerging evidence suggests involvement of additional cell types and systems. The objective of this study was to review and synthesize current evidence regarding the pathophysiology of Fragile X syndrome. A comprehensive literature review was conducted using databases such as PubMed and Google Scholar, employing MeSH terms including « Fragile X Syndrome, » « FMR1 gene, » and « FMRP. » Studies on both human and animal models, from inception to 2022, published in recognized journals were included. The evidence supports those neurons, glial cells, stem cells, the immune system, and lipid metabolism pathways contribute to the pathophysiology of Fragile X syndrome. Further research is necessary to explore these fields independently and to elucidate their interactions.

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13. Krahn GL, Havercamp SM, Bonardi A. Through the Looking Glass: A Data Lens on Health of People With Intellectual and Developmental Disabilities. Intellect Dev Disabil. 2024; 62(6): 433-45.

Population level data on health of people with intellectual and developmental disabilities (IDD) are sorely needed to identify their health status, health disparities, and health needs. Key considerations to inform programs and policies need to address prevalence, problem identification, and progress assessment. Recent advances have been made in health data about people with disabilities generally that identify strategies for improving health data for people with IDD, including critical need for a standardized operational definition and survey identifiers of IDD. Past and current actions by federal agencies’ to improve health data for health equity are summarized. Emerging developments in IDD health data are identified, including increasing use of self-report, data linking and harmonizing, intersectionality, and recognition of ableism.

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14. Leblond CS, Rolland T, Barthome E, Mougin Z, Fleury M, Ecker C, Bonnot-Briey S, Cliquet F, Tabet AC, Maruani A, Chaumette B, Green J, Delorme R, Bourgeron T. A Genetic Bridge Between Medicine and Neurodiversity for Autism. Annu Rev Genet. 2024; 58(1): 487-512.

Autism represents a large spectrum of diverse individuals with varying underlying genetic architectures and needs. For some individuals, a single de novo or ultrarare genetic variant has a large effect on the intensity of specific dimensions of the phenotype, while, for others, a combination of thousands of variants commonly found in the general population are involved. The variants with large impact are found in up to 30% of autistic individuals presenting with intellectual disability, significant speech delay, motor delay, and/or seizures. The common variants are shared with those found in individuals with attention-deficit/hyperactivity disorder, major depressive disorders, greater educational attainment, and higher cognitive performance, suggesting overlapping genetic architectures. The genetic variants modulate the function of chromatin remodeling and synaptic proteins that influence the connectivity of neuronal circuits and, in interaction with the environment of each individual, the subsequent cognitive and personal trajectory of the child. Overall, this genetic heterogeneity mirrors the phenotypic diversity of autistic individuals and provides a helpful bridge between biomedical and neurodiversity perspectives. We propose that participative and multidisciplinary research should use this information to understand better the assessment, treatments, and accommodations that individuals with autism and families need.

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15. Li C, Burke MM, Taylor JL, DaWalt LS, Rossetti Z. Establishing an Advocacy Activities Scale for Parents of Individuals With Intellectual and Developmental Disabilities. Intellect Dev Disabil. 2024; 62(6): 486-99.

Advocacy has long been heralded as a way to create change for individuals with intellectual and developmental disabilities (IDD) and their families. However, without an established measure, it is difficult to accurately characterize advocacy activities. Drawing from extant research, the Advocacy Activities Scale was developed to assess three domains of parent advocacy: advocacy for one’s own children, advocacy for other families, and advocacy for systemic change. Factor analyses were conducted using data from two projects reflecting 382 parents of individuals with IDD from seven states and the District of Columbia. The scale confirmed the three moderately correlated domains of parent advocacy and demonstrated that the scale has high: reliability, validity, test-retest reliability, and moderate correlations with related measures.

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16. Namgung JY, Mun J, Park Y, Kim J, Park BY. Sex differences in autism spectrum disorder using class imbalance adjusted functional connectivity. Neuroimage. 2024: 120956.

Autism spectrum disorder (ASD) is an atypical neurodevelopmental condition with a diagnostic ratio largely differing between male and female participants. Due to the sex imbalance in participants with ASD, we lack an understanding of the differences in connectome organization of the brain between male and female participants with ASD. In this study, we matched the sex ratio using a Gaussian mixture model-based oversampling technique and investigated the differences in functional connectivity between male and female participants with ASD using low-dimensional principal gradients. Between-group comparisons of the gradient values revealed significant interaction effects of sex in the sensorimotor, attention, and default mode networks. The sex-related differences in the gradients were highly associated with higher-order cognitive control processes. Transcriptomic association analysis provided potential biological underpinnings, specifying gene enrichment in the cortex, thalamus, and striatum during development. Finally, the principal gradients were differentially associated with symptom severity of ASD between sexes, highlighting significant effects in female participants with ASD. Our work proposed an oversampling method to mitigate sex imbalance in ASD and observed significant sex-related differences in functional connectome organization. The findings may advance our knowledge about the sex heterogeneity in large-scale brain networks in ASD.

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17. Rabba AS, Smith J, Hall G, Alexander V, Batty K, Datta P, Goodall E, Heyworth M, Lamb S, Lawson W, Lilley R, Reid K, Syeda N, Pellicano E. ‘I’m sick of being the problem’: Autistic mothers’ experiences of interacting with schools for their autistic children. Autism. 2024: 13623613241297223.

Good relationships between families and schools make a difference to children’s learning – and the same goes for autistic children. But parents of autistic children often find it very stressful interacting with teachers and school staff. In this study, we focused on autistic parents of autistic children. We wanted to know about their experiences of interacting with schools and the impact these had on them and their children. We spoke to 31 autistic mothers of autistic children about their experiences. They told us that they felt they were constantly fighting with schools to get the support needed for their autistic children and compared it to like being in a ‘war zone’. They were ‘sick of being [viewed as] the problem’ and felt that their views and autistic expertise were not taken seriously by teachers and schools. This was damaging to their autistic children’s mental health as well as their own. Autistic mothers did share some positive experiences too. They spoke about the value of mutual respect and its impact on successful school partnerships. Autistic mothers also spoke about standing up for themselves and their children and how this advocacy and self-advocacy helped them to build better relationships with schools. This research showed how difficult it can be for autistic families to interact with teachers and schools and the impact this can have on the whole family. It also showed us that strong, trusting relationships between school and families are possible – when autistic parents feel safe, and when their knowledge and lived experience are taken seriously by educators.

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18. Ranaut A, Khandnor P, Chand T. Identification of autism spectrum disorder using electroencephalography and machine learning: a review. J Neural Eng. 2024.

Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by communication barriers, societal disengagement, and monotonous actions. Traditional diagnostic methods for ASD rely on clinical observations and behavioural assessments, which are time -consuming. In recent years, researchers have focused mainly on the early diagnosis of ASD due to the unavailability of recognised causes and the lack of permanent curative solutions. Electroencephalography (EEG) research in ASD offers insight into the neural dynamics of affected individuals. This comprehensive review examines the unique integration of EEG, machine learning, and statistical analysis for ASD identification, highlighting the promise of an interdisciplinary approach for enhancing diagnostic precision. The comparative analysis of publicly available EEG datasets for ASD, along with local data acquisition methods and their technicalities, is presented in this paper. This study also compares preprocessing techniques, and feature extraction methods, followed by classification models and statistical analysis which are discussed in detail. In addition, it briefly touches upon comparisons with other modalities to contextualize the extensiveness of ASD research. Moreover, by outlining research gaps and future directions, this work aims to catalyse further exploration in the field, with the main goal of facilitating more efficient and effective early identification methods that may be helpful to the lives of ASD individuals.&#xD.

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19. Salerno C, Cirio S, Maspero C, Roner M, D’Avola V, Cagetti MG. Parent’s acceptance of advanced behavior management techniques on children during dental treatment. BMC Pediatr. 2024; 24(1): 764.

AIM: This study explores the acceptance of Advanced Behavior Management Techniques (ABMTs) by parents during their children’s dental treatments, comparing the opinion of parents of neurotypical children with that of parents of children with autism spectrum disorders (ASDs). METHODS: An observational cross-sectional study was conducted involving 440 parents, divided into two groups: 236 parents of neurotypical children and 204 parents of children with ASDs, recruited from pediatricians’ centers and centers for ASDs children in Northern and Southern Italy. A survey assessed their familiarity and acceptance of ABMTs, including protective stabilization, conscious sedation, and deep sedation/general anesthesia. Discrete variables were expressed as absolute and relative frequencies (%) and compared with Pearson’s chi-squared or Fisher’s exact test. Continue variables were expressed as mean ± SD and compared with the one-way ANOVA test. Heatmap and PCA analysis were used to determine possible correlations between items. RESULTS: Parents of children with ASDs showed a higher acceptance rate of ABMTs compared to parents of neurotypical children. Overall, only 30.68% of parents knew ABMTs before the survey. Differences between the two groups of parents in acceptance of Active Stabilization in emergency settings, Passive Stabilization in routine settings, and Deep sedation/general anesthesia in both settings were observed (p < 0.01). Only 6.82% of parents ever used at least one ABMT on their children. Heatmap analysis revealed that parents who have accepted one of the ABMTs tend to accept the others as well. CONCLUSION: Differences in parental acceptance of different ABMTs was noted among the two groups of parents, with greater acceptance of ABMTs observed in the group of parents of children with ASDs. Parents of both groups have significant gaps in their knowledge of ABMTs. Therefore, increased awareness and personalized communication strategies are needed to increase acceptance of the studied techniques and, thus, facilitate access to dental care for uncooperative pediatric patients. Patient-centered behavior management strategies that meet children's needs and parents' preferences can contribute to the achievement of good oral health.

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20. Song Y, Zhang X, Wang B, Luo X, Zhang K, Zhang X, Wu Q, Sun M. BPAP induces autism-like behavior by affecting the expression of neurodevelopmental genes in Drosophila melanogaster. Ecotoxicol Environ Saf. 2024; 288: 117405.

Bisphenol AP (BPAP), an environmental endocrine disruptor, may cause neurodevelopmental disorders affecting human health. Studies have shown that BPAP impacts hormone synthesis and metabolism, causes social behavior abnormalities, and induces anxiety-like behavioral impairments in mice. However, evidence for the neurobehavioral effects of BPAP is still lacking. Here, we examined the toxic effects of BPAP on neurodevelopment using a Drosophila model. We assessed the role of BPAP exposure in autism-like behavior and explored the underlying mechanisms. Our findings indicated that BPAP exposure reduced pupation and eclosion rates and delayed growth in Drosophila. Furthermore, BPAP exposure caused autism-like behaviors, characterized by increased grooming times and aberrant social interactions, along with abnormalities in locomotor activity, as well as learning and memory ability. Mechanistically, we found that BPAP decreases the number of neuroblasts (NBs) and mature intermediate neural progenitors (INPs) in the 3rd larval brain, impairing axon guidance in the mushroom body of the adult Drosophila brain. Additionally, our transcriptome analysis revealed that BPAP exposure alters the expression of neurodevelopment-related genes (Nplp3, sand, lush, and orco) and affects the estrogen signaling pathway (Hsp70Ab, Hsp70Bc, Hsp70Ba, and Hsp70Bb). These changes potentially explain the BPAP-induced autism-like behavior in Drosophila.

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21. Strawson WH, McKeown B, Quadt L, Wang HT, Larrson DEO, Mulcahy J, Silva M, Kampoureli C, Turnbull A, Garfinkel SN, Smallwood J, Critchley HD. Differences in ongoing thought between autistic and non-autistic adults. Sci Rep. 2024; 14(1): 29236.

Autistic people may be distinguishable from non-autistic individuals in the content and modality of their thoughts. Such differences potentially underlie both psychological vulnerability and strengths, motivating the need to better understand autistic thought patterns. In non-clinical undergraduates, a recent study found that autistic traits were associated with thinking more in words than images. However, it is unclear whether such differences in thought are present in clinically diagnosed autistic individuals. The current study applied the same methods (multidimensional experience sampling during an N-back task) to examine ongoing thought in autistic and non-autistic adults. We found that autistic individuals showed less variability in the modality of their thoughts between easy and difficult task contexts. While both non-autistic and autistic participants tended to report thinking more in words during the difficult task context, the difference between conditions was significantly smaller for the autistic group. In addition, autistic individuals showed a weaker coupling between task performance and off-task social thinking, a finding that may be related to differences in social processing during the off-task state. Overall, our results provide a clinical replication and extension of previous work, highlighting the differential effects of changing external context on internal mental states in autism.

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22. Talbot CF, Oztan O, Simmons SMV, Trainor C, Ceniceros LC, Nguyen DKK, Del Rosso LA, Garner JP, Capitanio JP, Parker KJ. Nebulized vasopressin penetrates CSF and improves social cognition without inducing aggression in a rhesus monkey model of autism. Proc Natl Acad Sci U S A. 2024; 121(49): e2418635121.

Low cerebrospinal (CSF) arginine vasopressin (AVP) concentration is a biomarker of social impairment in low-social monkeys and children with autism, suggesting that AVP administration may improve primate social functioning. However, AVP administration also increases aggression, at least in « neurotypical » animals with intact AVP signaling. Here, we tested the effects of a voluntary drug administration method in low-social male rhesus monkeys with high autistic-like trait burden. Monkeys received nebulized AVP or placebo, using a within-subjects design. Study 1 (N = 8) investigated the effects of AVP administration on social cognition in two tests comparing responses to social versus nonsocial stimuli. Test 1: Placebo-administered monkeys lacked face recognition memory, whereas face recognition memory was « rescued » following AVP administration. In contrast, object recognition memory was intact and did not differ between administration conditions. Test 2: Placebo-administered monkeys did not respond to conspecific social communication cues, whereas following AVP administration, they reciprocated affiliative communication cues with species-typical affiliative responses. Importantly, AVP administration did not increase aggressive responses to conspecific aggressive or affiliative overtures. Study 2 (N = 4) evaluated the pharmacokinetics of this administration method. Following AVP nebulization, we observed a linear increase in cisternal CSF AVP levels, and a quadratic rise and fall in blood AVP levels. These findings indicate that nebulized AVP likely penetrates the central nervous system, selectively promotes species-typical responses to social information, and does not induce aggression in low-social individuals. Nebulized AVP therefore may hold promise for managing similar social symptoms in people with autism, particularly in very young or lower functioning individuals.

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23. Tassé MJ, Havercamp SM, Krahn G, Shogren KA, Bonardi A, Kim M, Chapman R. About Whom Are We Talking When We Use Intellectual and Developmental Disabilities?. JAMA Pediatr. 2024.

IMPORTANCE: Communicating clearly about who is included in a population group is a critical element to effective dissemination and knowledge transfer. This narrative review highlights the inconsistency as it relates to communicating about individuals with intellectual disability (ID) and developmental disability (DD). OBSERVATIONS: There is enormous variability in the use of definitions and abbreviations in the field of intellectual disability and developmental disabilities. The lack of consistency has resulted in widely varying reported rates of prevalence and has contributed to confusion around the interpretation of research and clinical findings, population statistics, and policy decisions. The reported rates of prevalence for developmental disabilities published by different US federal agencies have ranged widely from 3% to 17%. This represents a 5-fold difference. Equally confusing is the inconsistent and ambiguous adoption of initialisms. These initialisms include ID/DD, IDD, and I/DD for which it is not always clear if these initialisms reference separate and independent populations (eg, ID or DD) or populations with co-occurring conditions (eg, persons with ID and DD). This Narrative Review discusses these issues and proposed a number of recommendations that would contribute to enhanced consistency and clarity of understanding for stakeholders, administrators, practitioners, researchers, and policy makers. CONCLUSION: Authors of scholarly works, clinical publications, policies, and position papers are encouraged to provide a clear operational definition as well as the choice of initialisms used (eg, ID/DD, IDD, I/DD, etc) when it is first used.

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24. Tran TT, Nguyen VT, Nguyen MP, Huynh Nguyen PQ, Le TTH, Nguyen HY, Nguyen TH, Nguyen TL, Le CT, Nguyen VT. Prevalence of autism spectrum disorder diagnosed according to DSM-5 criteria and associated factors in preschoolers in southern Vietnam. Clin Ter. 2024; 175(6): 405-11.

INTRODUCTION: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder that has become a significant concern in pediatric mental health due to its rising prevalence in recent years. Despite this increase, the prevalence of ASD and its associated risk factors remain poorly understood. This study aims to elucidate the prevalence of ASD and its associated risk factors among preschool children in southern Vietnam. METHODS: This prospective study was conducted from June 2021 to December 2022 and included 9,397 children (4,813 boys and 4,584 girls) aged 24 to 72 months, attending 41 kindergartens in southern Vietnam. Diagnoses of ASD were made by qualified pediatric psychiatrists using DSM-5 criteria. Data on ASD-related variables were collected through a structured questionnaire administered by trained preschool teachers. Univariate logistic regression analysis was employed to identify associations between independent variables and the prevalence of ASD, followed by multivariate logistic regression models to control for potential confounders. RESULTS: The overall prevalence of ASD among children aged 24 to 72 months attending preschool in southern Vietnam was found to be 1.2% (1 in 84 children). The prevalence rates in central, subcentral, and suburban areas were 2.00%, 0.6%, and 1%, respectively. Significant risk factors for ASD identified through multivariate regression analysis included age (24 to 30 months) with an odds ratio (OR) of 5.35 (95% CI: 2.84-10.10), male gender (OR=2.55, 95% CI: 1.68-3.86), maternal exposure to pesticides (OR=4.62, 95% CI: 1.84-11.61), maternal stress or psychological trauma during pregnancy (OR=2.3, 95% CI: 1.1-5.4). CONCLUSION: ASD represents a significant pediatric psychiatric issue in southern Vietnam, with a higher incidence than previously reported. Some of the identified risk factors are potentially preventable, suggesting that targeted interventions could reduce the incidence of ASD.

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25. Vaidya S, Raj M, Sudevan R, Chandramathi J, Karmacharya SB, Subedi K, Raya GB, Shrestha D. Prospective cohort study exploring the neurodevelopmental outcomes following documented neonatal sepsis in Nepal: study protocol. BMJ Paediatr Open. 2024; 8(1).

INTRODUCTION: Neonatal sepsis, a significant contributor to global neonatal mortality, poses substantial risks to infant health, particularly in low-resource countries like Nepal. Despite its high prevalence, there is a lack of clarity in defining and understanding neonatal sepsis, leading to challenges in diagnosing and managing the condition effectively. The probable impact of neonatal sepsis on long-term neurodevelopmental outcomes, including motor and cognitive delays, remains under-explored in Nepal. The primary objective of this study is to report the prevalence of neurodevelopmental delay in neonates with documented sepsis. The secondary objective is to report significant associations of the same with selected probable risk factors. METHODS AND ANALYSIS: This is a dual-centric prospective cohort study that is ongoing at two hospitals-Paropakar Maternity and Women’s Hospital and Siddhi Memorial Hospital in Nepal, over a 2-year period. Neonates diagnosed with sepsis will be assessed using the Developmental Assessment Scale for Indian Infants at 6 months and 1 year, postdiagnosis. Statistical analyses will include prevalence estimation and logistic regression.

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26. van Dijk S, Peters-Scheffer N, Didden R. « I Know it’s Good to Do it »: A Qualitative Study Exploring the Perspective of Autistic Men on Social Motivation. J Autism Dev Disord. 2024.

The social motivation hypothesis states that people with Autism Spectrum Condition (ASC) have a diminished social motivation, that is (1) less priority in attention for objects of social importance, (2) diminished social reward, and (3) less desire to maintain and strengthen relationships. Little is known about the perception of autistic people on their social motivation. This study used semi-structured interviews to explore how eleven autistic men perceived their social motivation, behaviour, and interactions. In the interpretative phenomenological analysis, five themes were identified: (1) social network, (2) importance of social contact, (3) challenges regarding social contact, (4) conditionality of social contact, and (5) the struggle between importance, challenges and conditionality of social contact. Social motivation appeared to be a dynamic concept that varied between individuals and contexts. Most participants struggled between valuing social contact as important and the challenges they faced on a social level over the different contexts in which they participated. Even though elements of the social motivation hypothesis were recognized, the main finding was that this struggle seemed to be the source of the diminished social motivation that was observed in some of these men. Although more research is needed, the findings of this study could imply that social motivation might not be as straightforward for autistic men as described in the social motivation hypothesis.

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27. Wai-Yan Tang J, Cheuk-Fung Hau C, Tong WM, Watt RM, Yiu CKY, Kar-Man Shum K. Alterations of Oral Microbiota in Young Children with Autism: Unraveling Potential Biomarkers for Early Detection. J Dent. 2024: 105486.

OBJECTIVES: This study investigated the oral microbiota in young children with autism spectrum disorder (ASD) to determine possible alterations in microbial composition and identify potential biomarkers for early detection. METHODS: Dental plaque samples from 25 children with ASD (aged 3-6 years; M = 4.79, SD = 0.83) and 30 age- and sex-matched typically developing (TD) children were analyzed using 16S rRNA sequencing. RESULTS: The results showed lower bacterial diversity in children with ASD compared to controls, with distinct microbial compositions in the ASD and TD groups. Six discriminatory species (Microbacterium flavescens, Leptotrichia sp. HMT-212, Prevotella jejuni, Capnocytophaga leadbetteri, Leptotrichia sp. HMT-392, and Porphyromonas sp. HMT-278) were identified in the oral microbiota of ASD children, while five discriminatory species (Fusobacterium nucleatum subsp. polymorphum, Schaalia sp. HMT-180, Leptotrichia sp. HMT-498, Actinomyces gerencseriae, and Campylobacter concisus) were identified in TD controls. A model generated by random forest and leave-one-out cross-validation achieved an accuracy of 0.813. Receiver operating characteristic analysis yielded a sensitivity of 0.778, a specificity of 0.857, and an AUC (area under curve) of 0.937 (95% CI: 0.82 – 1.00) for differentiating children with and without ASD. CONCLUSION: The present study has unveiled significant disparities in the oral microbial composition between ASD and TD children. SIGNIFICANCE: These findings contribute to understanding the microbiome-brain connection in ASD and its implications for early detection and management. Further research is needed to validate these oral bacterial biomarkers and explore their mechanistic association with ASD pathophysiology.

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28. Wang X, Yang B, Wu S, Fan Q, Wang Q, Zhang D, Wang H, Feng T, Lv H, Chen T. UBTF haploinsufficiency associated with UBTF-related global developmental delay and distinctive facial features without neuroregression. J Med Genet. 2024; 61(12): 1089-95.

BACKGROUND: The Upstream Binding Transcription Factor (UBTF) gene encodes two nucleolar proteins, UBTF1 and UBTF2. UBTF1 regulates rRNA transcription by RNA polymerase I, while UBTF2 regulates mRNA transcription by RNA polymerase II. A recurrent de novo dominant mutation c.628G>A (p.Glu210Lys) has been identified as a gain-of-function mutation associated with childhood onset neurodegeneration with brain atrophy (CONDBA). Evidence from large-scale population databases and Ubtf(+/-) mouse models indicates that UBTF haploinsufficiency is not tolerated. METHODS: Three unrelated patients with global developmental delay and distinctive facial features were recruited for the study. Whole exome sequencing (WES) was performed to identify potential genetic abnormalities. Additionally, copy number variation analysis was conducted based on the WES data. RESULTS: All three patients exhibited intellectual disabilities, social challenges and developmental delays in language and gross motor skills. Distinctive facial features included a wide forehead, sparse eyebrows, hypertelorism, narrow palpebral fissures, single-fold eyelids, a flat nasal bridge, anteverted nares, a long philtrum and a thin upper lip. Additionally, patient C presented with more severe language delay, recurrent hepatic dysfunction and an atrial septal defect. Patient A was found to have a nonsense variant, c.1327C>T (p.R443Ter), in the exon 13 of UBTF. Patients B and C both carried a heterozygous deletion encompassing the UBTF gene. CONCLUSION: In this study, we analysed the detailed phenotypes associated with UBTF haploinsufficiency, which, to our knowledge, have not been previously reported. We propose that UBTF haploinsufficiency-related global developmental delay and distinctive facial features, without neuroregression, constitute a new syndrome distinct from CONDBA.

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29. Xu J, Su W, Wang Y, Luo Y, Ye F, Xu Y, Chen L, Li H. Genetic analysis of 280 children with unexplained developmental delay or intellectual disability using whole exome sequencing. BMC Pediatr. 2024; 24(1): 766.

INTRODUCTION: Developmental delay (DD) and intellectual disability (ID) are key manifestations of neurodevelopmental disorders (NDDs), characterized by considerable clinical and genetic variability, which complicates genetic diagnosis. Whole exome sequencing (WES) has become an effective method for uncovering genetic causes in patients with unexplained DD/ID. METHODS: We retrospectively analyzed WES data from 280 patients diagnosed with unexplained DD/ID. Demographic information and genetic variants identified through WES were assessed, along with an evaluation of clinical factors that might influence the detection of genetic causes. RESULTS: Pathogenic variants were detected in 73 cases (36.07%), including 25 cases involving pathogenic chromosomal copy number variations. Clinical factors such as age, sex, gestational age, birth weight, anoxia, jaundice, associated symptoms, family history, muscle strength, muscle tone, epilepsy, brain MRI findings, EEG results, and the severity of DD/ID did not significantly impact the WES outcomes. However, a significant correlation was observed between delivery mode and positive WES results, with a higher diagnostic yield among patients delivered via caesarean section. CONCLUSIONS: WES is a valuable approach for identifying genetic causes in patients with unexplained DD/ID, providing benefits for patient management, family genetic counseling, and long-term prognosis assessment. CLINICAL TRIAL NUMBER: Not applicable.

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