1. Correction to: Is genetic liability to ADHD and ASD causally linked to educational attainment?. International journal of epidemiology. 2023.

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2. Birtele M, Del Dosso A, Xu T, Nguyen T, Wilkinson B, Hosseini N, Nguyen S, Urenda JP, Knight G, Rojas C, Flores I, Atamian A, Moore R, Sharma R, Pirrotte P, Ashton RS, Huang EJ, Rumbaugh G, Coba MP, Quadrato G. Non-synaptic function of the autism spectrum disorder-associated gene SYNGAP1 in cortical neurogenesis. Nature neuroscience. 2023.

Genes involved in synaptic function are enriched among those with autism spectrum disorder (ASD)-associated rare genetic variants. Dysregulated cortical neurogenesis has been implicated as a convergent mechanism in ASD pathophysiology, yet it remains unknown how ‘synaptic’ ASD risk genes contribute to these phenotypes, which arise before synaptogenesis. Here, we show that the synaptic Ras GTPase-activating (RASGAP) protein 1 (SYNGAP1, a top ASD risk gene) is expressed within the apical domain of human radial glia cells (hRGCs). In a human cortical organoid model of SYNGAP1 haploinsufficiency, we find dysregulated cytoskeletal dynamics that impair the scaffolding and division plane of hRGCs, resulting in disrupted lamination and accelerated maturation of cortical projection neurons. Additionally, we confirmed an imbalance in the ratio of progenitors to neurons in a mouse model of Syngap1 haploinsufficiency. Thus, SYNGAP1-related brain disorders may arise through non-synaptic mechanisms, highlighting the need to study genes associated with neurodevelopmental disorders (NDDs) in diverse human cell types and developmental stages.

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3. Chang HW, Hsu MJ, Chien LN, Chi NF, Yu MC, Chen HC, Lin YF, Hu CJ. Role of the Autism Risk Gene Shank3 in the Development of Atherosclerosis: Insights from Big Data and Mechanistic Analyses. Cells. 2023; 12(21).

Increased medical attention is needed as the prevalence of autism spectrum disorder (ASD) rises. Both cardiovascular disorder (CVD) and hyperlipidemia are closely associated with adult ASD. Shank3 plays a key genetic role in ASD. We hypothesized that Shank3 contributes to CVD development in young adults with ASD. In this study, we investigated whether Shank3 facilitates the development of atherosclerosis. Using Gene Set Enrichment Analysis software (Version No.: GSEA-4.0.3), we analyzed the data obtained from Shank3 knockout mice (Gene Expression Omnibus database), a human population-based study cohort (from Taiwan’s National Health Insurance Research Database), and a Shank3 knockdown cellular model. Shank3 knockout upregulated the expression of genes of cholesterol homeostasis and fatty acid metabolism but downregulated the expression of genes associated with inflammatory responses. Individuals with autism had higher risks of hyperlipidemia (adjusted hazard ratio (aHR): 1.39; p < 0.001), major adverse cardiac events (aHR: 2.67; p < 0.001), and stroke (aHR: 3.55; p < 0.001) than age- and sex-matched individuals without autism did. Shank3 downregulation suppressed tumor necrosis factor-α-induced fatty acid synthase expression; vascular cell adhesion molecule 1 expression; and downstream signaling pathways involving p38, Jun N-terminal kinase, and nuclear factor-κB. Thus, Shank3 may influence the development of early-onset atherosclerosis and CVD in ASD. Furthermore, regulating Shank3 expression may reduce inflammation-related disorders, such as atherosclerosis, by inhibiting tumor necrosis factor-alpha-mediated inflammatory cascades.

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4. Deng J, Lei T, Du X. Effects of sensory integration training on balance function and executive function in children with autism spectrum disorder: evidence from Footscan and fNIRS. Frontiers in psychology. 2023; 14: 1269462.

INTRODUCTION: This study investigates the efficacy of sensory integration training (SIT) in enhancing balance and executive functions in children with autism spectrum disorder (ASD), with the aim of highlighting its potential for organizing and processing sensory information in the brain. METHODS: Utilizing Footscan for biomechanical evidence and functional near-infrared spectroscopy (fNIRS) for neural activation, we engaged two participant groups: a control group (n = 9) and an experimental group (n = 9). Assessments involved the Sharpened Romberg Test (SRT) for balance under varied visual conditions and the Go/No-Go task for executive function. RESULTS: The SIT intervention significantly improved balance function, particularly in Visual Deprivation (VD) scenarios. Neurophysiological data revealed heightened activation in the right Inferior Frontal Gyrus (R-IFG) and right Middle Frontal Gyrus (R-MFG), suggesting enhanced executive function. The potential of R-IFG/MFG activation as a reliable biomarker for assessing executive function in ASD was identified. DISCUSSION: The study provides empirical evidence supporting SIT’s effectiveness in enhancing balance and executive functions in children with ASD. The therapy not only improves sensory processing and motor skills but also appears to compensate for sensory deficits, particularly in vision, vestibular perception, and proprioception. Enhanced neural activation in specific PFC regions underscores SIT’s role in improving cognitive aspects, including inhibitory control and cognitive flexibility. The multidisciplinary approach adopted for this research highlights the intricate interplay between sensory-motor functions and cognitive control in ASD, paving the way for integrated therapeutic strategies. Despite these advancements, the mechanisms through which SIT exerts these multifaceted effects require further exploration.

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5. Li SY, Zhao X, Cheng MY, Lu L, Guo JX, Xuan DS, Sun YB, Xing QN, Meng LS, Liao JJ, Cui SH, Zhang LJ, Feng ZQ, Zhang XA. Quantitative Relaxometry Assessment of Brain Microstructural Abnormality of Preschool Children With Autism Spectrum Disorder With Synthetic Magnetic Resonance Imaging. Journal of computer assisted tomography. 2023; 47(6): 959-66.

OBJECTIVE: This study aimed to perform an assessment of brain microstructure in children with autism aged 2 to 5 years using relaxation times acquired by synthetic magnetic resonance imaging. MATERIALS AND METHODS: Thirty-four children with autism spectrum disorder (ASD) (ASD group) and 17 children with global developmental delay (GDD) (GDD group) were enrolled, and synthetic magnetic resonance imaging was performed to obtain T1 and T2 relaxation times. The differences in brain relaxation times between the 2 groups of children were compared, and the correlation between significantly changed T1/T2 and clinical neuropsychological scores in the ASD group was analyzed. RESULTS: Compared with the GDD group, shortened T1 relaxation times in the ASD group were distributed in the genu of corpus callosum (GCC) ( P = 0.003), splenium of corpus callosum ( P = 0.002), and right thalamus (TH) ( P = 0.014), whereas shortened T2 relaxation times in the ASD group were distributed in GCC ( P = 0.011), left parietal white matter ( P = 0.035), and bilateral TH (right, P = 0.014; left, P = 0.016). In the ASD group, the T2 of the left parietal white matter is positively correlated with gross motor (developmental quotient [DQ] 2) and personal-social behavior (DQ5), respectively ( r = 0.377, P = 0.028; r = 0.392, P = 0.022); the T2 of the GCC was positively correlated with DQ5 ( r = 0.404, P = 0.018); and the T2 of the left TH is positively correlated with DQ2 and DQ5, respectively ( r = 0.433, P = 0.009; r = 0.377, P = 0.028). All significantly changed relaxation values were not significantly correlated with Childhood Autism Rating Scale scores. CONCLUSIONS: The shortened relaxometry times in the brain of children with ASD may be associated with the increased myelin content and decreased water content in the brain of children with ASD in comparison with GDD, contributing the understanding of the pathophysiology of ASD. Therefore, the T1 and T2 relaxometry may be used as promising imaging markers for ASD diagnosis.

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6. Methods In Medicine CAM. Retracted: Facial Features Detection System to Identify Children with Autism Spectrum Disorder: Deep Learning Models. Computational and mathematical methods in medicine. 2023; 2023: 9896070.

[This retracts the article DOI: 10.1155/2022/3941049.].

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7. Mulert C. [Telemedicine, kratom and Autism Spectrum Disorder]. Fortschritte der Neurologie-Psychiatrie. 2023; 91(11): 442-3.

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8. Novak-Pavlic M, Rosenbaum P, Di Rezze B. Changing Directions and Expanding Horizons: Moving towards More Inclusive Healthcare for Parents of Children with Developmental Disabilities. International journal of environmental research and public health. 2023; 20(21).

Family-centred service (FCS) acknowledges the importance of family engagement in therapeutic processes and focuses on the needs of all family members. This way of thinking and practicing is becoming increasingly recognized as an optimal care delivery model for families of children with developmental disabilities (DDs). However, in most places, disability services are oftentimes ‘child-centric’, wherein family members are seen only as partners in therapy or care delivery, while their own needs are not addressed. This arises from the lack of awareness of complex and highly individual family needs by professionals with whom they interact, but also from a significant lack of service infrastructure oriented towards parent-specific needs in existing service delivery models. This concept paper highlights the known challenges associated with parenting a child with a DD and discusses the intersectionality of factors impacting parental health and well-being, with a goal of promoting more equitable, holistic, and inclusive healthcare for all family members of children with DDs.

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9. Power SD, Stewart E, Zielke LG, Byrne EP, Douglas A, Ortega-de San Luis C, Lynch L, Ryan TJ. Immune activation state modulates infant engram expression across development. Science advances. 2023; 9(45): eadg9921.

Infantile amnesia is possibly the most ubiquitous form of memory loss in mammals. We investigated how memories are stored in the brain throughout development by integrating engram labeling technology with mouse models of infantile amnesia. Here, we found a phenomenon in which male offspring in maternal immune activation models of autism spectrum disorder do not experience infantile amnesia. Maternal immune activation altered engram ensemble size and dendritic spine plasticity. We rescued the same apparently forgotten infantile memories in neurotypical mice by optogenetically reactivating dentate gyrus engram cells labeled during complex experiences in infancy. Furthermore, we permanently reinstated lost infantile memories by artificially updating the memory engram, demonstrating that infantile amnesia is a reversible process. Our findings suggest not only that infantile amnesia is due to a reversible retrieval deficit in engram expression but also that immune activation during development modulates innate, and reversible, forgetting switches that determine whether infantile amnesia will occur.

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10. Sarigul N, Bozatli L, Kurultak I, Korkmaz F. Using urine FTIR spectra to screen autism spectrum disorder. Scientific reports. 2023; 13(1): 19466.

Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder caused by multiple factors, lacking clear biomarkers. Diagnosing ASD still relies on behavioural and developmental signs and usually requires lengthy observation periods, all of which are demanding for both clinicians and parents. Although many studies have revealed valuable knowledge in this field, no clearly defined, practical, and widely acceptable diagnostic tool exists. In this study, 26 children with ASD (ASD+), aged 3-5 years, and 26 sex and age-matched controls are studied to investigate the diagnostic potential of the Attenuated Total Reflectance-Fourier Transform Infrared (ATR-FTIR) spectroscopy. The urine FTIR spectrum results show a downward trend in the 3000-2600/cm region for ASD+ children when compared to the typically developing (TD) children of the same age. The average area of this region is 25% less in ASD+ level 3 children, 29% less in ASD+ level 2 children, and 16% less in ASD+ level 1 children compared to that of the TD children. Principal component analysis was applied to the two groups using the entire spectrum window and five peaks were identified for further analysis. The correlation between the peaks and natural urine components is validated by artificial urine solutions. Less-than-normal levels of uric acid, phosphate groups, and ammonium ([Formula: see text]) can be listed as probable causes. This study shows that ATR-FTIR can serve as a practical and non-invasive method to screen ASD using the high-frequency region of the urine spectrum.

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11. Thaler H, Falter-Wagner C. [Autism spectrum disorder in adulthood]. Fortschritte der Neurologie-Psychiatrie. 2023; 91(11): 466-78.

Autism is a neurodevelopmental disorder that starts in early childhood and persists over the lifespan. A combination of genetic factors and environmental factors around birth contribute to its etiology. Autistic individuals show differences and difficulties in social interaction and communication as well as repetitive, stereotypical behavior and interests. The diagnostic procedure is complex and should be carried out in a specialized assessment unit. Diagnostic assessment is based on behavioral observation and a careful evaluation of developmental history. A wide range of potential differential diagnoses should be considered. Autistic adults have a higher risk of developing psychiatric disorders such as anxiety and depression. Psychotherapeutic treatment that is adapted to autism-related difficulties can be helpful. Co-occurring conditions should be treated in accordance with disorder-specific guidelines. Psychopharmacological treatment of co-occurring conditions is, in most cases, only recommended as an addition to behavioral interventions. Autistic people often experience difficulties in social participation, which can be targeted with sociotherapeutic interventions.

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12. Tumanggor RD, Pracilio A, Siregar CT, Wilson NJ, Cashin A. A survey of Indonesian nurses’ educational experiences and self-perceived capability to care for people with intellectual disability and/or autism spectrum disorder. Journal of advanced nursing. 2023.

AIMS: To describe Indonesian nurses’ educational experience regarding care for people with intellectual disability and/or autism and to explore if these educational experiences are associated with their self-perceived confidence, comfort, knowledge and preparedness to care for these cohorts. DESIGN: Cross-sectional descriptive survey. METHODS: A descriptive survey tool utilized in a study of Australian registered nurses was replicated and adapted for this study. Following descriptive analysis, chi-square analyses were undertaken to explore associations between educational experiences, and self-rated measures of confidence, comfort and knowledge to work with people with intellectual disability and/or autism. Although there was no end-user involvement in the design of the study, the concepts explored have all been raised by those with lived insights of intellectual disability and/or autism as being critical to their healthcare experiences. RESULTS: There were 544 complete responses, and 51.7% were not exposed to any educational or clinical content relevant to caring for people with intellectual disability and/or autism. Moderate to low levels of self-perceived confidence, comfort, knowledge and preparedness to address healthcare needs of these cohorts were reported. Significant associations were identified between educational and clinical experiences during undergraduate training, and higher levels of self-perceived confidence, comfort and knowledge. CONCLUSION: Mirroring international literature, the findings of this study highlight a large proportion of Indonesian nurses had little educational experience relevant to caring for people with intellectual disability and/or autism, and have relatively low levels of self-reported capability. IMPACT: This study highlights gaps in the educational experiences, and self-perceived confidence, comfort, knowledge and preparedness of Indonesian nurses regarding caring for people with intellectual disability and/or autism. Given that internationally, people with intellectual disability and/or autism have disproportionately negative health outcomes and experiences, these findings have substantial implications for nursing curriculum, policy and professional development.

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13. Williams J, Royer J, Lauer E, Kurth NK, Horner-Johnson W, McDermott S, Levy A, Hall JP. Injury-related emergency department use among people with intellectual and developmental disabilities insured by Medicaid from 2010 to 2016. Injury prevention : journal of the International Society for Child and Adolescent Injury Prevention. 2023.

OBJECTIVES: Data on non-fatal injuries and visits to the emergency department (ED) for injuries are not readily available. The objective of this paper is to describe injury-related ED visits for people with intellectual and developmental disabilities who are covered by the Medicaid insurance programme. METHODS: We aggregated 2010-2016 Medicaid claims data from eight states. Using these data, we identified individuals with intellectual and developmental disabilities and then determined an all-cause ED visit rate, ED visit due to injury rate and admission from ED due to injury rate. Data were stratified by sex and age group. Results were compared with national rates. RESULTS: Medicaid members with intellectual and developmental disabilities visited EDs at approximately 1.8 times the rate of the general population. The ED visit rate due to injury was approximately 1.5 times that observed in the population overall. When ED visits due to injury data were stratified by age and sex, the largest discrepancy was observed in women ages 45-64, who visited EDs due to injury at a rate 2.1 times that of women of the same age in the general population. The admission rate from ED due to injury increased over the study period most notably in the older age groups. CONCLUSIONS: While rates and patterns of ED utilisation among Medicaid members with intellectual and developmental disabilities vary by age and gender, our findings suggest this group visits the ED due to injury at rates well above the general population.

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