Pubmed du 01/08/24

Pubmed du jour

1. Ahmad I, Rashid J, Faheem M, Akram A, Khan NA, Amin RU. Autism spectrum disorder detection using facial images: A performance comparison of pretrained convolutional neural networks. Healthc Technol Lett;2024 (Aug);11(4):227-239.

Autism spectrum disorder (ASD) is a complex psychological syndrome characterized by persistent difficulties in social interaction, restricted behaviours, speech, and nonverbal communication. The impacts of this disorder and the severity of symptoms vary from person to person. In most cases, symptoms of ASD appear at the age of 2 to 5 and continue throughout adolescence and into adulthood. While this disorder cannot be cured completely, studies have shown that early detection of this syndrome can assist in maintaining the behavioural and psychological development of children. Experts are currently studying various machine learning methods, particularly convolutional neural networks, to expedite the screening process. Convolutional neural networks are considered promising frameworks for the diagnosis of ASD. This study employs different pre-trained convolutional neural networks such as ResNet34, ResNet50, AlexNet, MobileNetV2, VGG16, and VGG19 to diagnose ASD and compared their performance. Transfer learning was applied to every model included in the study to achieve higher results than the initial models. The proposed ResNet50 model achieved the highest accuracy, 92%, compared to other transfer learning models. The proposed method also outperformed the state-of-the-art models in terms of accuracy and computational cost.

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2. Beaurenaut M, Kovarski K, Destais C, Mennella R, Grèzes J. Spontaneous instrumental approach-avoidance learning in social contexts in autism. Mol Autism;2024 (Jul 31);15(1):33.

BACKGROUND: Individuals with Autism Spectrum Condition (ASC) are characterized by atypicalities in social interactions, compared to Typically Developing individuals (TD). The social motivation theory posits that these difficulties stem from diminished anticipation, reception, and/or learning from social rewards. Although learning from socioemotional outcomes is core to the theory, studies to date have been sparse and inconsistent. This possibly arises from a combination of theoretical, methodological and sample-related issues. Here, we assessed participants’ ability to develop a spontaneous preference for actions that lead to desirable socioemotional outcomes (approaching/avoiding of happy/angry individuals, respectively), in an ecologically valid social scenario. We expected that learning abilities would be impaired in ASC individuals, particularly in response to affiliative social feedback. METHOD: We ran an online social reinforcement learning task, on two large online cohorts with (n = 274) and without (n = 290) ASC, matched for gender, age and education. Participants had to indicate where they would sit in a waiting room. Each seat was associated with different probabilities of approaching/avoiding emotional individuals. Importantly, the task was implicit, as participants were not instructed to learn, and emotional expressions were never mentioned. We applied both categorical analyses contrasting the ASC and TD groups and dimensional factor analysis on affective questionnaires. RESULTS: Contrary to our hypothesis, participants showed spontaneous learning from socioemotional outcomes, regardless of their diagnostic group. Yet, when accounting for dimensional variations in autistic traits, as well as depression and anxiety, two main findings emerged among females who failed to develop explicit learning strategies: (1) autism severity in ASC correlated with reduced learning to approach happy individuals; (2) anxiety-depression severity across both ASC and TD participants correlated with reduced learning to approach/avoid happy/angry individuals, respectively. CONCLUSIONS: Implicit spontaneous learning from socioemotional outcomes is not generally impaired in autism but may be specifically associated with autism severity in females with ASC, when they do not have an explicit strategy for adapting to their social environment. Clinical diagnosis and intervention ought to take into account individual differences in their full complexity, including the presence of co-morbid anxiety and depression, when dealing with social atypicalities in autism.

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3. Bourque VR, Schmilovich Z, Huguet G, England J, Okewole A, Poulain C, Renne T, Jean-Louis M, Saci Z, Zhang X, Rolland T, Labbé A, Vorstman J, Rouleau GA, Baron-Cohen S, Mottron L, Bethlehem RAI, Warrier V, Jacquemont S. Integrating genomic variants and developmental milestones to predict cognitive and adaptive outcomes in autistic children. medRxiv;2024 (Aug 1)

Although the first signs of autism are often observed as early as 18-36 months of age, there is a broad uncertainty regarding future development, and clinicians lack predictive tools to identify those who will later be diagnosed with co-occurring intellectual disability (ID). Here, we developed predictive models of ID in autistic children (n=5,633 from three cohorts), integrating different classes of genetic variants alongside developmental milestones. The integrated model yielded an AUC ROC=0.65, with this predictive performance cross-validated and generalised across cohorts. Positive predictive values reached up to 55%, accurately identifying 10% of ID cases. The ability to stratify the probabilities of ID using genetic variants was up to twofold greater in individuals with delayed milestones compared to those with typical development. These findings underscore the potential of models in neurodevelopmental medicine that integrate genomics and clinical observations to predict outcomes and target interventions.

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4. Brown CE, Collins T, Foy RK, Bonish KE, Ramsey TE, Nowell KP, Bernardin CJ, Kanne SM. The How Rather than the What: A Qualitative Analysis of Modalities and Caregiver Descriptions of Special Interests in Autistic Youth. J Autism Dev Disord;2024 (Aug 1)

Nearly all autistic youth have special interests (SIs), which are associated with many benefits and challenges. Most research on SIs has focused on the subject matter of SIs, with less focus on understanding how youth engage in their SIs. We conducted a qualitative study using inductive content analysis (ICA) to examine: (1) The modalities youth use to engage in their SIs, (2) the degree to which such modalities are described by caregivers as adaptive or maladaptive, and (3) the extent to which the SIs themselves are described by caregivers positively or negatively. We coded responses from 1922 caregivers of autistic youths who completed an online version of the Special Interests Survey, a caregiver-report measure of SIs. Responses to open-ended questions on the SIS, wherein caregivers describe the specific interest within the endorsed SI category, were used as data for the ICA. Frequencies of the codes were derived from cross-tabulation data. The ICA yielded eight modalities: perseverating, creating, information-seeking, memorizing, collecting, attachment, sensory-seeking, and self-soothing. Perseverating, collecting, and attachment were described as maladaptive and negatively by caregivers, whereas creating and information-seeking were described as adaptive. SIs with the greatest proportion of positive and negative descriptions were Plants and Objects, respectively. These findings suggest that SIs – and the degree to which they are described as beneficial or problematic – may be associated with modality and the subject matter. Considering how autistic individuals engage in SIs has implications for clinical work and future research in this area.

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5. Bu LK, Jia PP, Huo WB, Pei DS. Assessment of Probiotics’ Impact on Neurodevelopmental and Behavioral Responses in Zebrafish Models: Implications for Autism Spectrum Disorder Therapy. Probiotics Antimicrob Proteins;2024 (Aug 1)

Autism spectrum disorder (ASD) is a neurodevelopmental disorder; the prevalence of which has been on the rise with unknown causes. Alterations in the gut-brain axis have been widely recognized in ASD patients, and probiotics are considered to potentially benefit the rescuing of autism-like behaviors. However, the effectiveness and mechanisms of multiple probiotics on zebrafish models are still not clearly revealed. This study aims to use the germ-free (GF) and conventionally raised (CR) AB wild-type zebrafish and the mutant Tbr1b(-/-) and Katnal2(-/-) lines as human-linked ASD animal models to evaluate the effects of multiple probiotics on mitigating developmental and behavioral defects. Results showed that the addition of probiotics increased the basic important developmental indexes, such as body length, weight, and survival rate of treated zebrafish. Moreover, the Lactobacillus plantarum and Lactobacillus rhamnosus affected the behavior of CR zebrafish by increasing their mobility, lowering the GF zebrafish manic, and mitigating transgenic zebrafish abnormal behavior. Moreover, the expression levels of key genes related to gamma-aminobutyric acid (GABA), dopamine (DA), and serotonin (5-HT) as important neuropathways to influence the appearance and development of autism-related disorders, including gad1b, tph1a, htr3a, th, and slc6a3, were significantly activated by some of the probiotics’ treatment at some extent. Taken together, this study indicates the beneficial effects of different probiotics, which may provide a novel understanding of probiotic function in related diseases’ therapy.

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6. Chen B, Xu X, Wang Y, Yang Z, Liu C, Zhang T. VPA-induced autism impairs memory ability through disturbing neural oscillatory patterns in offspring rats. Cogn Neurodyn;2024 (Aug);18(4):1563-1574.

Autism spectrum disorder (ASD) is a general neurodevelopmental disease characterized by unusual social communication and rigid, repetitive behavior patterns. The purpose of this study was to investigate the effects of ASD on the alteration of neural oscillatory patterns and synaptic plasticity, which commonly supported a wide range of basic and higher memory activities. Accordingly, a prenatal valproic acid (VPA) exposure rat model was established for studying autism. The behavioral experiments showed that the social orientation declined and the memory ability was significantly impaired in VPA rats, which was closely associated with the synaptic plasticity deficits. Neural oscillation is the rhythmic neuron-activity, and the pathological characteristics and neurological changes in autism may be peeped at the neural oscillatory analysis. Interestingly, neural oscillatory analysis showed that prenatal VPA exposure reduced the low-frequency power but increased high-frequency gamma (HG) power in the hippocampus CA1 area. Meanwhile, the coherence and synchronization between CA3 and CA1 were abnormally increased in the VPA group, especially in theta and HG rhythms. Furthermore, the cross-frequency coupling strength of theta-LG in the CA1 and CA3 → CA1 pathway was significantly attenuated, but the theta-HG coupling strength was increased. Additionally, prenatal VPA exposure inhibited the expression of SYP and NR2B but enhanced the expression of PSD-95 along with decreased synaptic plasticity. The neural oscillatory patterns in VPA-induced offspring were disturbed with the intensity and direction of neural information flow disordered, which are consistent with the changes in synaptic plasticity, suggesting that the decline in synaptic plasticity is the underlying mechanism.

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7. Cherewick M, Cruz CM, Giri P, Matergia M, Rai RP. Relationships between autistic traits, self-efficacy, and internalizing symptoms in a nonclinical sample of Indian early adolescents. Brain Behav;2024 (Aug);14(8):e3646.

INTRODUCTION: Having more « autistic traits » is associated with an increased risk of mental health conditions. However, few studies have examined autistic traits in nonclinical samples. This study aims to analyze the relationship between autistic traits and internalizing symptoms among early adolescents and to examine the moderating effect of self-efficacy. METHODS: Survey data were collected from early adolescents ages 10-14 living in Darjeeling, India (n = 274) to assess autistic traits, self-efficacy, and internalizing symptoms. RESULTS: Higher internalizing symptoms were significantly associated with a higher report of autistic traits. Academic, social, and emotional dimensions of self-efficacy moderated the relationship between autistic traits and internalizing symptoms. CONCLUSION: The moderation effects between social and emotional self-efficacy among youth with high versus low autism trait scores suggest the need for social-emotional learning interventions designed for and with neurodivergent youth. Such interventions aim to reduce internalizing symptoms during early adolescence and improve future mental health trajectories.

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8. Chin PS, Ramachandram S. Effectiveness of sexual health training to parents with children of autism spectrum disorder. Med J Malaysia;2024 (Jul);79(4):464-469.

INTRODUCTION: Sexual health education among individuals with autism spectrum disorder (ASD) is unique and may not be adequately addressed both at home and at school. Parents have an important role in delivering sexual health education to their children. This is a pilot study to evaluate parental awareness and effectiveness of parent sexual health training for children with ASD. MATERIALS AND METHODS: Parents of 30 children with ASD with ages ranging from 8 to 12 years attending Child Development Clinic, Hospital Pulau Pinang (CDC HPP) were recruited. Parents attended two-hour virtual parent sexual health training and educational materials were provided to be utilised at home. Follow-up via phone consultation were done at three and six months to ensure training was carried out. Both structured interview and Vineland adaptive behaviour scales (VABS-3) were done at recruitment and at eight months via phone consultation. Wilcoxon-signed rank test was used to analyse differences between pre- and postintervention outcome measures. RESULTS: Statistically significant increase in number of sexual health topics taught by parents and appropriate socio-sexual behaviours of children were found. Intellectual function of children with ASD influenced the study outcomes. CONCLUSION: Parent sexual health training can be done to empower parents to educate children with ASD and promote appropriate socio-sexual behaviours.

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9. Cui K, Li L, Li K, Xiao W, Wang Q. AOP-based framework for predicting the joint action mode of di-(2-ethylhexyl) phthalate and bisphenol A co-exposure on autism spectrum disorder. Neurotoxicology;2024 (Jul 29);104:75-84.

Autism spectrum disorder (ASD), also known as autism, is a common, highly hereditary and heterogeneous neurodevelopmental disorder. The global prevalence of ASD among children continues to rise significantly, which is partially attributed to environmental pollution. It has been reported that pre- or post-natal exposure to di-(2-ethylhexyl) phthalate (DEHP) or bisphenol A (BPA), two prevalent environmental endocrine disruptors, increases the risk of ASD in offspring. Yet, the joint action mode linking DEHP and BPA with ASD is incompletely understood. This study aims to unravel the joint action mode of DEHP and BPA co-exposure on the development of ASD. An adverse outcome pathway (AOP) framework was employed to integrate data from multiple public database and construct chemical-gene-phenotype-disease networks (CGPDN) for DEHP- and BPA-related ASD. Topological analysis and comprehensive literature exploration of the CGPDN were performed to build the AOP. By analysis of shared key events (KEs) or phenotypes within the AOP or the CGPDN, we uncovered two AOPs, decreased N-methyl-D-aspartate receptor (NMDAR) and estrogen antagonism that were likely linked to ASD, both with moderate confidence. Our analysis further predicted that the joint action mode of DEHP and BPA related ASD was possibly an additive or synergistic action. Thus, we propose that the co-exposure to BPA and DEHP perhaps additively or synergistically increases the risk of ASD.

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10. Ding Y, Zhang T, Cao W, Zhang L, Xu X. A multi-frequency approach of the altered functional connectome for autism spectrum disorder identification. Cereb Cortex;2024 (Aug 1);34(8)

Autism spectrum disorder stands as a multifaceted and heterogeneous neurodevelopmental condition. The utilization of functional magnetic resonance imaging to construct functional brain networks proves instrumental in comprehending the intricate interplay between brain activity and autism spectrum disorder, thereby elucidating the underlying pathogenesis at the cerebral level. Traditional functional brain networks, however, typically confine their examination to connectivity effects within a specific frequency band, disregarding potential connections among brain areas that span different frequency bands. To harness the full potential of interregional connections across diverse frequency bands within the brain, our study endeavors to develop a novel multi-frequency analysis method for constructing a comprehensive functional brain networks that incorporates multiple frequencies. Specifically, our approach involves the initial decomposition of functional magnetic resonance imaging into distinct frequency bands through wavelet transform. Subsequently, Pearson correlation is employed to generate corresponding functional brain networks and kernel for each frequency band. Finally, the classification was performed by a multi-kernel support vector machine, to preserve the connectivity effects within each band and the connectivity patterns shared among the different bands. Our proposed multi-frequency functional brain networks method yielded notable results, achieving an accuracy of 89.1%, a sensitivity of 86.67%, and an area under the curve of 0.942 in a publicly available autism spectrum disorder dataset.

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11. Domarecki P, Plata-Nazar K. The Assessment of Comprehensive Care for Autistic Children Provided by Polish Primary Healthcare Physicians in Parental View. Glob Pediatr Health;2024;11:2333794×241258657.

Objectives. Important factor in caring for ASD patients is the successful cooperation between the physician and the parent. Methods. The online survey has been conducted. For statistical analysis the t-student test and the U-Mann Whitney test were performed to compare 2 variables, then the Kruskal-Wallis test or ANOVA as well as The Pearson correlation and Sperman’s rank correlation were performed. Results. 80.5% of respondent’s PHPs did not notice the child’s developmental difficulties. 22.02% of respondents can speak to their PHP about a child’s difficulties. PHPs take different strategies to make patient contact with the healthcare system easier. We discovered statistically significant differences in the assessment of PHPs’ abilities depending on the physicians’ specialty, the children’s age, the age at ASD diagnosis. Conclusion. The care for autistic patients provided by Polish PHPs is insufficient and the topic needs to be addressed immediately.

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12. Elbedour L, Balaum R, Alhozyel E, Meiri G, Zigdon D, Michaelovski A, Kerub O, Menashe I. Breastfeeding patterns in infants are associated with a later diagnosis of autism Spectrum disorder. Autism Res;2024 (Aug);17(8):1696-1704.

Breastfeeding is associated with medical and developmental benefits. This study aimed to assess associations between nutritional patterns in the first year of life and the likelihood of autism spectrum disorder (ASD). 270 children diagnosed with ASD (cases) and 500 neurotypical children (controls) matched to cases by sex, ethnicity, and birth date (± 3 months) were included in this retrospective case-control study. Both groups were ascertained from children born between 2014 and 2017 whose development/nutrition were monitored at mother-child health clinics in southern Israel. Conditional logistic regression was used to determine the independent association of nutritional patterns with ASD while adjusting for socio-demographic and clinical characteristics. Both exclusive and partial breastfeeding modes were associated with decreased odds of ASD diagnosis (aOR = 0.221, 95%CI = 0.136-0.360; aOR = 0.494, 95%CI = 0.328-0.743, respectively). A breastfeeding duration of >12 months was associated with lower ASD odds (aOR = 0.418, 95%CI = 0.204-0.855), while the introduction of solids after 6 months of age was associated with higher ASD odds than the introduction of solids at 6 months (aOR = 2.455, 95%CI = 1.116-4.201). These findings suggest that a longer period of exclusive breastfeeding is associated with a subsequent reduced likelihood of ASD diagnosis, thus reiterating the importance of proper post-natal nutrition for infant neurodevelopment.

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13. Faghani P, Nikpeyma N, Haghani S, Amrollah Majdabadi Z, Pashaeypoor S. Relationship of nutritional behaviors and parent-child interactions with developmental domains of Iranian toddlers: a cross-sectional study. BMC Pediatr;2024 (Jul 31);24(1):488.

BACKGROUND: Health service providers closely monitor the developmental state of toddlers to identify the factors affecting this process because any defect during this period will cause irreversible damage. Therefore, this study investigated the relationship of nutritional behaviors and parent-child interactions with the developmental domains of Iranian toddlers. METHODS: This cross-sectional, descriptive-analytical study was conducted on 341 toddlers aged 12-36 months covered by comprehensive health centers in the south of Tehran in 2021-2022. The participants were selected through single-stage cluster sampling. To this end, 16 comprehensive health centers were randomly selected, and then some of the clients from each center were randomly selected as the sample. The required data were collected through the Ages and Stages Questionnaire (ASQ), the Children’s Eating Behavior Questionnaire (CEBQ), the Child-Parent Relationship Scale (CPRS), and a demographics form. They were then analyzed statistically using descriptive and inferential statistics in SPSS-21, considering a significance level of p < 0.05. RESULTS: The results showed that most participants were normal in all developmental domains (communication, gross motor, fine motor, personal-social, and problem-solving), with a mean developmental delay ranging from 1.8 to 7%. The most serious problem of participants requiring medical referral was related to gross motor (7%) with a mean of 54.35 ± 7.28 followed by communication (6.5%) with a mean of 49.41 ± 9.67. The mean nutritional behavior of participants was 77.9 ± 21.7. A significant relationship was found between the nutritional behaviors of participants and the problem-solving domain of development (p = 0.018). The results also indicated a mean parent-child interaction score of 94.26 ± 12.63. There was a significant relationship between parent-child interactions and the communication area of development (p = 0.04). CONCLUSION: Since some areas of toddler development are influenced by children's nutritional behavior and parent-child interactions, it is necessary to train families to identify, monitor, and correct the factors affecting the development of their children. Health system officials and planners are also recommended to develop interventions to improve the nutritional behaviors of children and parent-child interactions.

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14. Fernandez M, Soyele A, Arenyeka T, Hashmi K, Mupedziswa R. Clinical Analysis for Diagnosing Autism in Children Under Two: A Case Report. Cureus;2024 (Aug);16(8):e67888.

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with rising prevalence, necessitating early diagnosis and intervention. This case report examines the clinical diagnosis approach of ASD in children under two years, emphasizing motor developmental delay, chromosome 19 mutations, prematurity, macrocephaly, and false-negative Modified Checklist for Autism in Toddlers (MCHAT) results. This study identifies gross motor delays as a potential key indicator in the diagnosis of ASD, as all five cases (Patients A, B, C, D, and E) were observed to have such deficits. Two cases (Patients A and B) initially had negative MCHAT results but were later diagnosed with ASD. Patients C and E both had a chromosome 19 abnormality. Patient E had macrocephaly and an amino acid metabolism disorder. ASD atypical behaviors like hand flapping, wringing, and twirling were also noted. Our systematic review validated the key findings presented in this study, unveiling a consistent pattern throughout the existing literature about ASD diagnoses and the associated misconceptions. These cases highlight the significance of early motor delay, genetic factors, and the limitations of MCHAT in early ASD diagnosis. This case report underscores the need for improved screening tools, genetic investigations, and comprehensive assessments to enhance early detection and intervention for ASD. Early identification and personalized interventions hold a promise to improve the outcomes and quality of life for children with autism.

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15. Gehdu BK, Press C, Gray KLH, Cook R. Autistic adults have insight into their relative face recognition ability. Sci Rep;2024 (Aug 1);14(1):17802.

The PI20 is a self-report questionnaire that assesses the presence of lifelong face recognition difficulties. The items on this scale ask respondents to assess their face recognition ability relative to the rest of the population, either explicitly or implicitly. Recent reports suggest that the PI20 scores of autistic participants exhibit little or no correlation with their performance on the Cambridge Face Memory Test-a key measure of face recognition ability. These reports are suggestive of a meta-cognitive deficit whereby autistic individuals are unable to infer whether their face recognition is impaired relative to the wider population. In the present study, however, we observed significant correlations between the PI20 scores of 77 autistic adults and their performance on two variants of the Cambridge Face Memory Test. These findings indicate that autistic individuals can infer whether their face recognition ability is impaired. Consistent with previous research, we observed a wide spread of face recognition abilities within our autistic sample. While some individuals approached ceiling levels of performance, others met the prevailing diagnostic criteria for developmental prosopagnosia. This variability showed little or no association with non-verbal intelligence, autism severity, or the presence of co-occurring alexithymia or ADHD.

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16. Ghanouni P, Raphael R, Seaker L, Casey A. How to build resiliency in autistic individuals: an implication to advance mental health. BMC Psychol;2024 (Aug 1);12(1):420.

INTRODUCTION: Individuals on the autism spectrum (ASD) often experience poor mental health and coping strategies compared to their peers due to social exclusion and co-occurring conditions. Resiliency has been identified as a key factor in preventing adverse outcomes and promoting mental health. Therefore, it is important to determine what strategies can be used to build resiliency among autistic individuals. The current paper is one of the first studies that aims to collect information from autistic individuals and their caregivers on potential strategies to enhance resiliency. METHODS: We interviewed 18 participants from various provinces in Canada, comprising of 13 autistic individuals and 5 parents. We used thematic analysis to identify patterns in the data. RESULTS: Thematic analysis revealed three themes to indicate strategies that could be used to enhance resiliency, including: (a) self-reliant strategies, (b) using community-based facilities, and (c) contextual and individual characteristics. CONCLUSION: Although the body of literature on resiliency is evolving, this paper provides a unique perspective as it is one of the few studies that considers the experiences of individuals on the spectrum. In addition, this study focuses on identifying and describing specific strategies that can be used to enhance resiliency and mental health, which consequently can help address the existing gaps in knowledge and practice.

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17. Heyne H. Rare developmental disorder caused by variants in a small RNA gene. Nature;2024 (Aug);632(8026):747-748.

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18. Holubowsky L, Kernreiter J, Blaha S, Kautz I, Krsmanovic I, Schuster M, Shakenova L. [Not Available]. Prax Kinderpsychol Kinderpsychiatr;2024 (Aug);73(5):416-431.

Autism in Systemic Group Psychotherapy: « Strong Together » a Care Model for Children and Adolescents from Practice Awareness of people with autism in our society is constantly increasing. Nevertheless, ambiguities and caution in dealing with autistic clients are still tangible. Due to the growing demand, there is a shortage of care for clients on the autism spectrum. This applies in particular to group therapy services in German-speaking countries. However, the international AWMF guidelines state that group therapy is the therapy method of choice for children and adolescents with autistic perception. In order to counteract this gap in care, this article presents a systemic group therapy for autistic people. It explains the extent to which the systemic approach in combination with a multimodal approach is a beneficial approach. It also highlights the importance of expanding the range of care services, interdisciplinary cooperation, and exchange. The compatibility of practice and research in systemic psychotherapy will be explained, teamwork in private practice will be emphasized, therapeutic experiences will be shared and an outlook on ongoing evaluation research will be presented.

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19. Hsiao MN, Chien YL, Tai YM, Chen HM, Shih HH, Chen LW, Chen YY, Soong WT, Chiu YN, Tsai WC, Laugeson E, Tseng MH, Gau SS. A preliminary randomized controlled study of the PEERS® program for Taiwanese autistic adolescents: The effectiveness on reducing school bullying and enhancing social function. Autism Res;2024 (Aug);17(8):1705-1720.

Individuals with autism spectrum disorder (ASD) often experience lifelong social communication challenges and are more vulnerable to school bullying. Addressing their social difficulties and school bullying requires evidence-based interventions. PEERS® (Program for the Education and Enrichment of Relational Skills) was adapted and translated for Taiwanese adolescents. This randomized controlled study aimed to examine the effectiveness of the Taiwanese version of PEERS® in reducing school bullying and enhancing social function among autistic adolescents. Twenty-one autistic adolescents (mean age 14.29 ± 1.67 years; female n = 733.33%) were randomized to a treatment group (TG, n = 10) or a delayed treatment control group (DTG, n = 11). The outcome measures (school bullying, social challenges, social skills knowledge, and social skills performance) were assessed at baseline, post-treatment, and follow-up. The group and time interaction analyses revealed greater magnitudes of reduction in general school bullying (p < 0.001), victimization (p < 0.001), perpetration (p = 0.012), social challenges (p = 0.001), and peer conflicts (p < 0.001), and improvement in social knowledge (p < 0.001) in the TG group than the DTG group. The findings suggest that the PEERS® program tailored for Taiwanese adolescents is effective in reducing school bullying, decreasing social challenges, and enhancing social skills among autistic adolescents, with very large effect sizes (Cohen's d ranging from 1.19 to 2.88). Consequently, participation in the PEERS® program is recommended for adolescents with social difficulties to improve their social communication and interactions to offset school bullying and other social challenges related to adverse outcomes.

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20. Inoue M, Yamaguchi H, Nakatani K, Nishimoto A, Namiki K, Kuroda S, Tran TVH, Dinh NTT. Effectiveness of Online Parent Training for Vietnamese Parents of Children with Autism Spectrum Disorders. Yonago Acta Med;2024 (Aug);67(3):213-224.

BACKGROUND: Parent training (PT) programs have been implemented for neurodevelopmental disorders such as autism spectrum disorder (ASD) in recent years. However, in Southeast Asia, the diffusion of rehabilitation programs for children with ASD and that of PT as a parental support measure has been slow. METHODS: This study assessed the effectiveness of an online PT program that was developed in Japan and remotely delivered to Vietnamese parents of children with ASD residing in Vietnam. Sixteen parents of Vietnamese children with ASD participated in seven online Tottori University-style PT sessions. The online PT was conducted in real-time from Japan, considering the two-hour time difference between countries. Lectures and exercises were presented in Vietnamese with PowerPoint materials. Japanese staff provided explanations in Japanese, which were then simultaneously translated by a Vietnamese interpreter. Attendance, completion of homework assignments, and the number of statements on Zoom and social media were tallied. A pre-post-test design was employed to measure changes in parents’ mental health factors and children’s behavior. A post-intervention questionnaire was administered to assess participant’s acceptance of PT. RESULTS: The findings showed that attendance and task completion rates were considerably high. The study found that the mental health scores of parents significantly improved after participating in online parenting training compared to before. However, there were no statistically significant improvements found in children’s behavior. The study also confirmed high satisfaction with the cross-country online parenting training. CONCLUSION: This study confirmed that TUPT, developed in Japan and implemented as an online PT for parents of children with ASD living in Vietnam, was effective in improving parental mental health. The program acceptability questionnaire also showed positive results. This study is the first step in the evaluation and dissemination of Internet-based, cross-country parent training for parental support in Asia.

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21. Kikuchi K, Michikawa T, Morokuma S, Hamada N, Ikeda S, Shimada Y, Kato K, Ochiai M, Tsuji M, Shimono M, Yoshino K, Suga R, Kawamoto T, Ohga S. Infants’ early recovery from sleep disturbance is associated with a lower risk of developmental delay in the Japan Environment and Children’s Study. Sci Rep;2024 (Aug 1);14(1):17773.

To examine whether patterns, such as the timings of onset or recovery from sleep disturbance, are associated with later developmental problems, including autism spectrum disorder (ASD). Mothers participating in the Japan Environment and Children’s Study with a child aged 3 years were included in the analyses. Children were assessed for short sleep and frequent awakenings at 1 month, 6 months, and 1 year of age. Developmental problems were evaluated at 3 years of age based on ASD diagnosis and developmental delay, using the Japanese translation of the Ages and Stages Questionnaire (ASQ) 3rd edition. Sleep disturbance patterns were classified by onset age, and developmental problem risks were examined based on onset/recovery ages. Among 63,418 mother-infant dyads, 0.4% of infants were later diagnosed with ASD, and 14.4% had abnormal scores on any ASQ domains. The later the onset of short sleep, the lower the risk of abnormal ASQ scores (RR of short sleep onset at 1 year: 1.41; 6 months: 1.52; 1 month: 1.57). The earlier the infants recovered from short sleep persistence, the lower the risk of developmental delay (RR of remittance of sleep problems identified at 1 month by 6 months: 1.07; 1 year: 1.31; not before 1 year: 1.57). Although not all patterns were significant, later short sleep onset and earlier recovery were associated with lower ASD risk. These findings may have significant implications for future interventions in infant development.

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22. Kim IB, Kim MH, Jung S, Kim WK, Lee J, Ju YS, Webster MJ, Kim S, Kim JH, Kim HJ, Kim J, Kim S, Lee JH. Low-level brain somatic mutations in exonic regions are collectively implicated in autism with germline mutations in autism risk genes. Exp Mol Med;2024 (Aug 1)

Low-level somatic mutations in the human brain are implicated in various neurological disorders. The contribution of low-level brain somatic mutations to autism spectrum disorder (ASD), however, remains poorly understood. Here, we performed high-depth exome sequencing with an average read depth of 559.3x in 181 cortical, cerebellar, and peripheral tissue samples to identify brain somatic single nucleotide variants (SNVs) in 24 ASD subjects and 31 controls. We detected ~2.4 brain somatic SNVs per exome per single brain region, with a variant allele frequency (VAF) as low as 0.3%. The mutational profiles, including the number, signature, and type, were not significantly different between the ASD patients and controls. Intriguingly, when considering genes with low-level brain somatic SNVs and ASD risk genes with damaging germline SNVs together, the merged set of genes carrying either somatic or germline SNVs in ASD patients was significantly involved in ASD-associated pathophysiology, including dendrite spine morphogenesis (p = 0.025), mental retardation (p = 0.012), and intrauterine growth retardation (p = 0.012). Additionally, the merged gene set showed ASD-associated spatiotemporal expression in the early and mid-fetal cortex, striatum, and thalamus (all p < 0.05). Patients with damaging mutations in the merged gene set had a greater ASD risk than did controls (odds ratio = 3.92, p = 0.025, 95% confidence interval = 1.12-14.79). The findings of this study suggest that brain somatic SNVs and germline SNVs may collectively contribute to ASD-associated pathophysiology.

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23. Li T, Decety J, Hua Z, Li G, Yi L. Empathy in autistic children: Emotional overarousal in response to others’ physical pain. Autism Res;2024 (Aug);17(8):1640-1650.

Different empathic responses are often reported in autism but remain controversial. To investigate which component of empathy is most affected by autism, we examined the affective, cognitive, and motivational components of empathy in 25 5- to 8-year-old autistic and 27 neurotypical children. Participants were presented with visual stimuli depicting people’s limbs in painful or nonpainful situations while their eye movements, pupillary responses, and verbal ratings of pain intensity and empathic concern were recorded. The results indicate an emotional overarousal and reduced empathic concern to others’ pain in autism. Compared with neurotypical children, autistic children displayed larger pupil dilation accompanied by attentional avoidance to others’ pain. Moreover, even though autistic children rated others in painful situations as painful, they felt less sorry than neurotypical children. Interestingly, autistic children felt more sorry in nonpainful situations compared with neurotypical children. These findings demonstrated an emotional overarousal in response to others’ pain in autistic children, and provide important implications for clinical practice aiming to promote socio-emotional understanding in autistic children.

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24. Loizou S, Pemovska T, Stefanidou T, Foye U, Cooper R, Kular A, Greenburgh A, Baldwin H, Griffiths J, Saunders KRK, Barnett P, Minchin M, Brady G, Ahmed N, Parker J, Chipp B, Olive RR, Jackson R, Timmerman A, Sapiets S, Driskell E, Parsons B, Spain D, Totsika V, Mandy W, Pender R, Clery P, Trevillion K, Lloyd-Evans B, Simpson A, Johnson S. Approaches to improving mental healthcare for autistic people: systematic review. BJPsych Open;2024 (Aug 1);10(4):e128.

BACKGROUND: Autistic people have a high likelihood of developing mental health difficulties but a low chance of receiving effective mental healthcare. Therefore, there is a need to identify and examine strategies to improve mental healthcare for autistic people. AIMS: To identify strategies that have been implemented to improve access, experiences of care and mental health outcomes for autistic adults, and to examine evidence on their acceptability, feasibility and effectiveness. METHOD: A co-produced systematic review was conducted. MEDLINE, PsycINFO, CINHAL, medRxiv and PsyArXiv were searched. We included all study designs reporting acceptability or feasibility outcomes and empirical quantitative study designs reporting effectiveness outcomes. Data were synthesised using a narrative approach. RESULTS: A total of 30 articles were identified. These included 16 studies of adapted mental health interventions, eight studies of service improvements and six studies of bespoke mental health interventions developed for autistic people. There was no conclusive evidence on effectiveness. However, most bespoke and adapted approaches appeared to be feasible and acceptable. Identified adaptations appeared to be acceptable and feasible, including increasing knowledge and detection of autism, providing environmental adjustments and communication accommodations, accommodating individual differences and modifying the structure and content of interventions. CONCLUSION: Many identified strategies are feasible and acceptable, and can be readily implemented in services with the potential to make mental healthcare more suitable for autistic people, but important research gaps remain. Future research should address these and investigate a co-produced package of service improvement measures.

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25. Murphy MS, Abdulaziz KE, Lavigne É, Erwin E, Guo Y, Dingwall-Harvey AL, Stieb D, Walker MC, Wen SW, Shin HH. Association between prenatal air pollutant exposure and autism spectrum disorders in young children: A matched case-control study in Canada. Environ Res;2024 (Jul 30);261:119706.

The direction and magnitude of association between maternal exposure to ambient air pollutants across gestational windows and offspring risk of autism spectrum disorders (ASD) remains unclear. We sought to evaluate the time-varying effects of prenatal air pollutant exposure on ASD. We conducted a matched case-control study of singleton term children born in Ontario, Canada from 1-Apr-2012 to 31-Dec-2016. Provincial birth registry data were linked with applied behavioural analysis services and ambient air pollutant datasets to ascertain prenatal exposure to nitrogen dioxide (NO(2)), ground-level ozone (O(3)), fine particulate matter (PM(2.5)), and ASD diagnoses. Covariate balance between cases and controls was established using coarsened exact matching. Conditional logistic regression was used to assess the association between prenatal air pollutant exposure and ASD. Distributed lag non-linear models (DLNM) were used to examine the effects of single-pollutant exposure by prenatal week. Sensitivity analyses were conducted to assess the impact of exposure period on the observed findings. The final sample included 1589 ASD cases and 7563 controls. Compared to controls, cases were more likely to be born to mothers living in urban areas, delivered by Caesarean section, and assigned male sex at birth. NO(2) was a consistent and significant contributor to ASD risk after accounting for co-exposure to O(3), PM(2.5) and covariates. The odds ratio per interquartile range increase was 2.1 (95%CI 1.8-2.3) pre-conception, 2.2 (2.0-2.5) for the 1st trimester, 2.2 (1.9-2.5) for the 2nd trimester, and 2.1 (1.9-2.4) for the 3rd trimester. In contrast, findings for O(3) and PM(2.5) with ASD were inconsistent. Findings from DLNM and sensitivity analyses were similar. Exposure to NO(2) before and during pregnancy was significantly associated with ASD in offspring. The relationship between prenatal O(3) and PM(2.5) exposure and ASD remains unclear. Further investigation into the combined effects of multi-pollutant exposure on child neurodevelopment is warranted.

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26. Orioli PA, Johnston C, Del Bigio JZ, Krebs VLJ, Pissolato M, Gibelli M, De Araujo OR, Francisco RPV, De Carvalho WB. Assessment of newborn neuropsychomotor development born with exposure to SARS-CoV-2 in the perinatal period using the Bayley III scale at 6 months of age. Clinics (Sao Paulo);2024;79:100460.

OBJECTIVE: This study aimed to evaluate the Neuropsychomotor Development (NPMD) of newborns exposed to SARS-CoV-2 in the perinatal period using the Bayley III scale at 6 months of age. METHODS: Childcare appointments were scheduled for the included newborns in the study. During the 6-month consultation, the Screening Test for Bayley III Scale and, based on it, children were classified as « low risk », « moderate risk » or « high risk » in the domains: of cognitive, receptive language, expressive language, fine motor, and gross motor. Those classified as « moderate risk »; or « high risk » received guidance about NPMD stimuli and were instructed to maintain follow-up. RESULTS: Only 13 (37.1 %) of the newborns were classified as low risk in receptive language and 18 (51.4 %) in gross motor skills, with the domains most affected. Prematurity was a risk for cognitive incompetence (moderate risk/high-risk classification) (coefficient: 1.89, Odds Ratio = 6.7, 95 % CI 1.3‒35, p = 0.02). Lower birth weight that 2.500g had a similar effect on cognitive incompetence (coefficient: 1.9, Odds Ratio = 6.2, 95 % CI 1.2‒32.2, p = 0.02). Exclusive breastfeeding at hospital discharge (n = 8) was protective for incompetence (high risk/moderate risk) in the language domain (coefficient -2.14, OR = 0.12, 95 % CI 0.02‒0.71, p = 0.02). CONCLUSIONS: The children included in the study must be monitored and their development monitored in order to clarify whether there is a relationship between the delay in NPMD and perinatal exposure to COVID-19, as delays were observed in these preliminary results.

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27. Pan M, Li H, Pan L, Sun R. Novel mutation identified in CONT3 causes IDDSADF: a case report and literature review. J Int Med Res;2024 (Aug);52(8):3000605241272533.

The carbon catabolite repression 4-negative on TATA-less transcription complex subunit 3 gene (CONT3) plays a key role in regulating the mRNA transcription and protein translation of other genes. Mutations in CONT3 have also recently been implicated as a causative factor of intellectual developmental disorder with speech delay, autism, and dysmorphic facies (IDDSADF). However, to date, only a few CONT3 mutations have been reported to be associated with IDDSADF-related diseases. In the present case, we report a Chinese patient with developmental delay, verbal regression, and facial dysmorphism, in whom cerebral magnetic resonance imaging showed an expansion of the lateral ventricle. The patient was diagnosed with an IDDSADF-related disease caused by a de novo c.1616_1623del mutation in exon 14 of CONT3, which was confirmed by whole-exome sequencing and direct Sanger sequencing. This case report is the first known documentation of a pathogenic mutation at the c.1616_1623del locus of CONT3 in the worldwide population. It provides a critical theoretical basis for the specific gene-based diagnosis of IDDSADF-related diseases and expands the mutation profile of CONT3.

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28. Papadopoulos A, Tsapara A, Gryparis A, Tafiadis D, Trimmis N, Plotas P, Skapinakis P, Tzoufi M, Siafaka V. A Prospective Study of the Family Quality of Life, Illness Perceptions, and Coping in Mothers of Children Newly Diagnosed with Autism Spectrum Disorder and Communication Difficulties. Eur J Investig Health Psychol Educ;2024 (Aug 1);14(8):2187-2204.

(1) Background: This study assesses the impact of mothers’ illness perceptions about autism spectrum disorder and their coping strategies on the family’s quality of life during the initial period following diagnosis and one year afterward. (2) Method: The sample consisted of 53 mothers of children newly diagnosed with autism spectrum disorder and having communication difficulties who completed the following: the Beach Center Family Quality of Life Scale, the Brief Illness Perception Questionnaire, and the Brief-COPE. (3) Results: The findings revealed a moderate family quality of life in the initial assessment and a lack of a statistically significant change one year later. Notably, statistically significant changes were observed in coping strategies, as in the second assessment, and the score in denial and self-blame decreased. Pearson and Eta analyses indicated several correlations between socio-demographic characteristics, illness perceptions, coping strategies, and family quality of life. Multiple regression analysis showed that positive reframing was positively associated with total family quality of life in the initial period following diagnosis and one year afterward, while self-blame was associated with poorer quality of life in the time after diagnosis. Furthermore, the belief about the controllability of the disorder was correlated with better family quality of life one year after the diagnosis. (4) Conclusions: Illness perceptions and coping can be considered as predictors of family quality of life outcomes one year after the diagnosis of autism spectrum disorder. The focus of interventions, apart from controlling the disorder’s symptoms, should aim to strengthen specific strategies and weaken others.

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29. Pozzi CM, Riesgo RDS, Assumpção Junior FB. Revisiting the history of autism before Kanner and Asperger: a tribute to Grunya Sukhareva. Arq Neuropsiquiatr;2024 (Aug);82(8):1-3.

Almost two decades before Kanner’s and Asperger’s works, the original paper by child psychiatrist Grunya Efimovna Sukhareva had already been written. It was published in 1926 by Sukhareva in a German scientific journal of psychiatry and neurology, with a detailed description of children who presented clinical conditions whose characteristics and evolution closely resemble autism, according to current criteria. In the present historical note, we intend to present Sukhareva’s pioneering work and retrieve the meaning of her original contribution.

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30. Rajagopalan SS, Zhang Y, Yahia A, Tammimies K. Machine Learning Prediction of Autism Spectrum Disorder From a Minimal Set of Medical and Background Information. JAMA Netw Open;2024 (Aug 1);7(8):e2429229.

IMPORTANCE: Early identification of the likelihood of autism spectrum disorder (ASD) using minimal information is crucial for early diagnosis and intervention, which can affect developmental outcomes. OBJECTIVE: To develop and validate a machine learning (ML) model for predicting ASD using a minimal set of features from background and medical information and to evaluate the predictors and the utility of the ML model. DESIGN, SETTING, AND PARTICIPANTS: For this diagnostic study, a retrospective analysis of the Simons Foundation Powering Autism Research for Knowledge (SPARK) database, version 8 (released June 6, 2022), was conducted, including data from 30 660 participants after adjustments for missing values and class imbalances (15 330 with ASD and 15 330 without ASD). The SPARK database contains participants recruited from 31 university-affiliated research clinicals and online in 26 states in the US. All individuals with a professional ASD diagnosis and their families were eligible to participate. The model performance was validated on independent datasets from SPARK, version 10 (released July 21, 2023), and the Simons Simplex Collection (SSC), consisting of 14 790 participants, followed by phenotypic associations. EXPOSURES: Twenty-eight basic medical screening and background history items present before 24 months of age. MAIN OUTCOMES AND MEASURES: Generalizable ML prediction models were developed for detecting ASD using 4 algorithms (logistic regression, decision tree, random forest, and eXtreme Gradient Boosting [XGBoost]). Performance metrics included accuracy, area under the receiver operating characteristics curve (AUROC), sensitivity, specificity, positive predictive value (PPV), and F1 score, offering a comprehensive assessment of the predictive accuracy of the model. Explainable AI methods were applied to determine the effect of individual features in predicting ASD as secondary outcomes, enhancing the interpretability of the best-performing model. The secondary outcome analyses were further complemented by examining differences in various phenotypic measures using nonparametric statistical methods, providing insights into the ability of the model to differentiate between different presentations of ASD. RESULTS: The study included 19 477 (63.5%) male and 11 183 (36.5%) female participants (mean [SD] age, 106 [62] months). The mean (SD) age was 113 (68) months for the ASD group and 100 (55) months for the non-ASD group. The XGBoost (termed AutMedAI) model demonstrated strong performance with an AUROC score of 0.895, sensitivity of 0.805, specificity of 0.829, and PPV of 0.897. Developmental milestones and eating behavior were the most important predictors. Validation on independent cohorts showed an AUROC of 0.790, indicating good generalizability. CONCLUSIONS AND RELEVANCE: In this diagnostic study of ML prediction of ASD, robust model performance was observed to identify autistic individuals with more symptoms and lower cognitive levels. The robustness and ML model generalizability results are promising for further validation and use in clinical and population settings.

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31. Sakakihara A, Masumoto T, Kurozawa Y. Associations between paternal autism traits and parenting from the Japan environment and children’s study. Sci Rep;2024 (Jul 26);14(1):17668.

There are few studies on the parenting of fathers with autism traits. To investigate this issue, we examined the type of parenting performed by fathers with autism traits using data from a nationwide birth cohort study, the Japan Environment and Children’s Study. Paternal parenting was evaluated by mothers or caregivers when the child was 2 years old. Father’s autism traits were measured using the Japanese version of the self-administered Autism Spectrum Quotient. Logistic regression analysis was performed to statistically analyze the data. Fathers with autism traits were significantly less likely to prepare meals for their child and helping them eat (adjusted OR (aOR): 1.11, 95% confidence interval (CI): 1.01-1.23), to helping the child change clothes (aOR: 1.17, 95% CI: 1.04-1.31). However, there were no associations between some parenting behaviors and autism traits (not changing diapers, not bathing with the child, and not playing with the child). Father’s communication skill difficulties by autism traits associated with a lower tendency to perform all types of parenting. Interestingly, there were association between difficulties with social skills or attention-switching and more performing change diapers. These results indicate it is important to respect the child-rearing that fathers with autistic tendencies are able to do, while supporting them in child-rearing that they are significantly less able to do than fathers without autistic tendencies.

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32. Saleem S, Habib SH. Effect of Infra Low Frequency (ILF) neurofeedback training on EEG in children with autism spectrum disorders. Pak J Med Sci;2024 (Aug);40(7):1397-1402.

OBJECTIVE: To investigate whether Infra-low frequency Neurofeedback (ILF-NFB) training can improve brain electrical activity in children with autism spectrum disorders ASD. METHOD: This single arm pre and post intervention study was carried out at IBMS (Institute of Basic Medical Sciences), Khyber Medical University, Peshawar and Shaheed Zulfiqar Ali Bhutto Medical University (SZABMU), Islamabad from January 2021 to December 2022. A purposive sampling technique was used. Thirty-five ASD children (male=24; female=11; 7-17 years) were provided with 30 sessions of infra low frequency (ILF) neurofeedback training for 15-20 minutes, during 10 weeks. Childhood Autism Rating Scale (CARS) scoring was done and electroencephalogram (EEG) activity was compared before and after ILF-NF training sessions. RESULTS: Around 62.9% participants had mild-moderate autism and 37.1% had severe autism. Wilcoxon Signed rank test revealed a significant decline in delta (Pre-test=47.31±19.22, Post-test=22.07±6.83; p=<0.001), theta (Pre-test=24.75±16.62, Post-test=12.37±3.59; p=<0.001) and alpha (Pre-test=12.01±9.81, Post-test=4.03±1.61; p=< 0.001) waves. Mann Whitney U test exhibited no significant gender differences in EEG pattern before and after neurofeedback except in theta waves (p=0.03) before the intervention. CONCLUSION: Decline in delta, theta, beta and alpha waves propose that ILF-NF training can be effective in improving the EEG activity. ILF-NFB can be perceived as a valuable non-invasive, non-pharmacological intervention for improving EEG pattern via reintegration of brain activity resulting in increased the attention and focus, enhanced mental stability and cognitive engagement.

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33. Sawicki CM, Duran P, Hestehave S, Khanna R, Wade SD. Green light exposure in children with autism spectrum disorder: a pilot study. J Clin Pediatr Dent;2024 (Jul);48(4):99-107.

Children with autism spectrum disorder (ASD) are frequently afflicted with sensory processing difficulties, which often impact their ability to cooperate with dental treatment. The objective of this pilot study was to determine the effects of green light exposure on behavior, pain, distress and anxiety in pediatric patients with ASD undergoing a dental prophylaxis. Twelve children diagnosed with ASD, aged 6-17 years, requiring a dental prophylaxis participated in this study. Participants completed two dental prophylaxes, three months apart, one in a standard white light-exposed dental operatory and one in a green light-exposed dental operatory. Behavioral cooperation, pain intensity, physiological stress and anxiety were assessed in all patients. The Wilcoxon matched-pairs signed rank test was used to estimate differences in measured outcomes according to the experimental condition. There was a trend towards reduced uncooperative behavior when children received a dental prophylaxis in the green light-exposed operatory (p = 0.06). Similar levels of heart rate variability (p = 0.41), salivary alpha amylase (p = 0.19), and salivary cortisol (p = 0.67) were observed at the start and end of each visit in both conditions. Green light exposure had no significant effect on pain intensity (p = 0.17) or behavioral anxiety (p = 0.31). These findings suggest a preliminary positive benefit of green light exposure on behavioral outcomes in pediatric patients with ASD and warrants a further, large-scale clinical trial.

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34. Shea L, Sadowsky M, Tao S, Rast J, Schendel D, Chesnokova A, Headen I. Perinatal and Postpartum Health Among People With Intellectual and Developmental Disabilities. JAMA Netw Open;2024 (Aug 1);7(8):e2428067.

IMPORTANCE: Small, geographically limited studies report that people with intellectual and developmental disabilities (IDD) have increased risk for serious pregnancy-related and birth-related challenges, including preeclampsia, preterm birth, and increased anxiety and depression, than their peers. United States-based population-level data among people with IDD are lacking. OBJECTIVES: To identify perinatal and postpartum outcomes among a national, longitudinal sample of people with IDD enrolled in public health insurance, compare subgroups of people with IDD, and compare outcomes among people with IDD with those of peers without IDD. DESIGN, SETTING, AND PARTICIPANTS: This retrospective cohort study used national Medicaid claims from January 1, 2008, to December 31, 2019, for 55 440 birthing people with IDD and a random sample of 438 557 birthing people without IDD. Medicaid funds almost half of all births and is the largest behavioral health insurer in the US, covering a robust array of services for people with IDD. Statistical analysis was performed from July 2023 to June 2024. EXPOSURE: People who had a documented birth in Medicaid during the study years. MAIN OUTCOME AND MEASURES: Perinatal outcomes were compared across groups using univariate and multivariate logistic regression. The probability of postpartum anxiety and depression was estimated using Kaplan-Meier and Cox proportional hazards regression. RESULTS: The study sample included 55 440 birthing people with IDD (including 41 854 with intellectual disabilities [ID] and 13 586 with autism; mean [SD] age at first delivery, 24.9 [6.7] years) and a random sample of 438 557 birthing people without IDD (mean [SD] age at first delivery, 26.4 [6.3] years). People with IDD were younger at first observed delivery, had a lower prevalence of live births (66.6% vs 76.7%), and higher rates of obstetric conditions (gestational diabetes, 10.3% vs 9.9%; gestational hypertension, 8.7% vs 6.1%; preeclampsia, 6.1% vs 4.4%) and co-occurring physical conditions (heart failure, 1.4% vs 0.4%; hyperlipidemia, 5.3% vs 1.7%; ischemic heart disease, 1.5% vs 0.4%; obesity, 16.3% vs 7.4%) and mental health conditions (anxiety disorders, 27.9% vs 6.5%; depressive disorders, 32.1% vs 7.5%; posttraumatic stress disorder, 9.5% vs 1.2%) than people without IDD. The probability of postpartum anxiety (adjusted hazard ratio [AHR], 3.2 [95% CI, 2.9-3.4]) and postpartum depression (AHR, 2.4 [95% CI, 2.3-2.6]) was significantly higher among autistic people compared with people with ID only and people without IDD. CONCLUSIONS AND RELEVANCE: In this retrospective cohort study, people with IDD had a younger mean age at first delivery, had lower prevalence of live births, and had poor obstetric, mental health, and medical outcomes compared with people without IDD, pointing toward a need for clinician training and timely delivery of maternal health care. Results highlight needed reproductive health education, increasing clinician knowledge, and expanding Medicaid to ensure access to care for people with IDD.

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35. Souza AJ, Freitas Í S, Sharmin D, Cook JM, Guimarães FS, Gomes FV. An alpha 5-GABA(A) receptor positive allosteric modulator attenuates social and cognitive deficits without changing dopamine system hyperactivity in rats exposed to valproic acid in utero. Autism Res;2024 (Aug);17(8):1534-1544.

Autism spectrum disorders (ASDs) are characterized by core behavioral symptoms in the domains of sociability, language/communication, and repetitive or stereotyped behaviors. Deficits in the prefrontal and hippocampal excitatory/inhibitory balance due to a functional loss of GABAergic interneurons are proposed to underlie these symptoms. Increasing the postsynaptic effects of GABA with compounds that selectively modulate GABAergic receptors could be a potential target for treating ASD symptoms. In addition, deficits in GABAergic interneurons have been linked to dopamine (DA) system dysregulation, and, despite conflicting evidence, abnormalities in the DA system activity may underly some ASD symptoms. Here, we investigated whether the positive allosteric modulator of α5-containing GABA(A) receptors (α5-GABA(A)Rs) SH-053-2’F-R-CH3 (10 mg/kg) attenuates behavioral abnormalities in rats exposed to valproic acid (VPA) in utero, an established risk factor for autism. We also evaluated if animals exposed to VPA in utero present changes in the ventral tegmental area (VTA) DA system activity using in vivo electrophysiology and if SH-053-2’F-R-CH3 could attenuate these changes. SH-053-2’F-R-CH3 was administered intraperitoneally 30 min before each behavioral test and electrophysiology. In utero VPA exposure caused male and female rats to present increased repetitive behavior (self-grooming) in early adolescence and deficits in social interaction in adulthood. Male, but not female VPA rats, also presented deficits in recognition memory as adults. SH-053-2’F-R-CH3 attenuated the impairments in sociability and cognitive function in male VPA-exposed rats without attenuating the decreased social interaction in females. Adult male and female VPA-exposed rats also showed an increased VTA DA neuron population activity, which was not changed by SH-053-2’F-R-CH3. Despite sex differences, our findings indicate that α5-GABA(A)Rs positive allosteric modulators may effectively attenuate some core ASD symptoms.

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36. Tarur SU, James J, Aschettino DL, Oundjian NJ. Neck Mass in a 12-year-old Girl with Autism Spectrum Disorder. Pediatr Rev;2024 (Aug 1);45(8):465-468.

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37. Wallisch A, Little LM, Dunn W, Tomchek S. Short report: Do parents use asynchronous materials in a hybrid coaching via telehealth intervention?. Autism;2024 (Aug);28(8):2140-2145.

Using telehealth to provide services to families and children with autism has grown since the start of the COVID-19 pandemic. Yet, we still know less about telehealth models that use both virtual sessions and online materials to support families. Research suggests it is important to make sure an intervention matches the characteristics of a child with autism, but fewer studies have examined the importance of matching an intervention to parent characteristics. In this study, we looked at parent characteristics (25 parents included in the study) before a parent coaching telehealth intervention for potty training in autism. We specifically looked at how parent competence (i.e. how confident and effective one feels with parenting) levels before the intervention influenced the usage of online education materials (i.e. podcasts/tip sheets). Results suggested that parents with lower competence used the online materials more often than parents with higher competence, and often made greater gains in parent competence during the intervention. Both parents with lower and higher competence found the intervention acceptable. Future research should study additional parent characteristics in a larger sample to better understand how to tailor interventions to meet both parent and child needs.

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38. Worringer E, Rowland K. Acetaminophen use during pregnancy was not linked to autism, ADHD, or intellectual disability in offspring. Ann Intern Med;2024 (Aug);177(8):Jc95.

Ahlqvist VH, Sjöqvist H, Dalman C, et al. Acetaminophen use during pregnancy and children’s risk of autism, ADHD, and intellectual disability. JAMA. 2024;331:1205-1214. 38592388.

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39. Wright B, Bell KJ, Blackwell JE, Teige C, Mandefield L, Wang HI, Welch C, Scantlebury A, Watson J, McMillan D, Standley E, Attwell L, Carrick H, Taylor A, Taylor O, Hodkinson R, Edwards H, Pearson H, Parrott S, Marshall D, Varley D, Hargate R, McLaren A, Elizabeth Hewitt C. Impact of Social Stories on social and emotional health of autism spectrum primary school children: the ASSSIST2 RCT with economic evaluation. Health Technol Assess;2024 (Aug);28(39):1-121.

BACKGROUND: Differences in the way autistic children experience the world can contribute to anxiety and stress. Carol Gray’s Social Stories™ are a highly personalised intervention to support children by providing social information about specific situations in an individual story. OBJECTIVES: This randomised controlled trial aimed to establish whether Social Stories are clinically effective and cost-effective in improving social responsiveness and social and emotional health in children on the autism spectrum in schools. DESIGN: A multisite pragmatic cluster randomised controlled trial comparing Social Stories with care as usual. SETTING: Eighty-seven schools (clusters) across Yorkshire and the Humber. PARTICIPANTS: Two hundred and forty-nine children were randomised via a bespoke system hosted at York Trials Unit (129 Social Stories and 120 care as usual). Recruitment was completed in May 2021. Participants were children aged 4-11 years with a diagnosis of autism, alongside teachers, interventionists and caregivers. Recruitment was via schools, NHS trusts, support groups and local publicity. INTERVENTION: The intervention included training for educational professionals and caregivers covering psychoeducation and implementation of Social Stories. Stories were written around contextualised goals around the child’s need for social information. Interventionists read the Social Story™ with the child at least six times over 4 weeks during school. MAIN OUTCOME MEASURE: The primary outcome was the Social Responsiveness Scale-2 completed by teachers at 6 months (the primary end point), which measures social awareness, cognition, communication and behaviour. Data were collected from caregivers and educational professionals at 6 weeks and 6 months through questionnaires. Blinding of participants was not possible. RESULTS: At 6 months, the estimated difference in expected teacher-reported Social Responsiveness Scale-2 T-score (the primary end point) was -1.61 (95% confidence interval -4.18 to 0.96, p = 0.220), slightly favouring the intervention group. The estimated differences for the parent-reported secondary outcomes at 6 months were small and generally favoured the control group except the measure of children’s quality-adjusted life-year (+ 0.001, 95% confidence interval -0.032 to 0.035) and parental stress (-1.49, 95% confidence interval -5.43 to 2.46, p = 0.460), which favoured the intervention group. Children in the intervention group met their individual goals more frequently than children who received usual care alone (0.97 confidence interval 0.21 to 1.73, p = 0.012). The intervention is likely to save small costs (-£191 per child, 95% confidence interval -767.7 to 337.7) and maintain a similar quality of life compared to usual care. The probability of Social Stories being a preferred option is 75% if the society is willing to pay £20,000 per quality-adjusted life-year gained. Limitations include considerable disruptions during the coronavirus disease 2019 pandemic. CONCLUSION: Social Stories are used in schools and represent a low-cost intervention. There is no clinically evident impact on social responsiveness, anxiety and/or depression, parental stress or general health. Benefits were observed for specific behavioural goals as assessed by the teacher, and Social Stories may serve as a useful tool for facilitating dialogue between children and school staff to address specific behavioural challenges. Usage should be at the school’s discretion. FUTURE WORK: Given the uncertainty of the results in light of coronavirus disease 2019, further work to establish the impact of Social Stories is merited. TRIAL REGISTRATION: This trial is registered as ISRCTN11634810. FUNDING: This award was funded by the National Institute for Health and Care Research (NIHR) Health Technology Assessment programme (NIHR award ref: 16/111/91) and is published in full in Health Technology Assessment; Vol. 28, No. 39. See the NIHR Funding and Awards website for further award information. Autism affects the way children experience the world, and some children find social situations stressful. We wanted to know whether Social Stories™, developed by Carol Gray, helped children with their social skills and behaviour in school and whether they offered value for money. A randomised controlled trial design was used, which gave schools an equal chance of being asked to deliver Social Stories or to continue providing care as usual. Two hundred and forty-nine children from 87 schools took part and we trained school staff and parents to write and deliver Social Stories. We agreed with teachers and parents, what each child needed help with and wrote stories with this in mind. Trained staff read the Social Story with the child at least six times over 4 weeks. Follow-up information was collected from parents and school staff at the start of the study, after 6 weeks and 6 months. After 6 months, teachers completed a questionnaire called the Social Responsiveness Scale-2 which measures the child’s social skills. Using these measures, the results suggest that Social Stories do not lead to any significant changes in social skills, mental health, parent stress, general health or quality of life but children in schools allocated to Social Stories met their goal more frequently and incurred less costs than children who did not. Parents and educational professionals found the Social Stories intervention and training beneficial. Based on our findings, Social Stories do not appear to improve general social skills in primary-aged autistic children. Benefits were observed for specific goals, and school-based costs were reduced. eng

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40. Wu R, Lim JT, Ahmed Z, Berger R, Acem E, Chowdhury I, White SJ. Do autistic adults spontaneously reason about belief? A detailed exploration of alternative explanations. R Soc Open Sci;2024 (Jul);11(7):231889.

Southgate et al.’s (Southgate 2007 Psychol. Sci. 18, 587-92 (doi:10.1111/j.1467-9280.2007.01944.x)) anticipatory-looking paradigm has presented exciting yet inconclusive evidence surrounding spontaneous mentalizing in autism. The present study aimed to develop this paradigm to address alternative explanations for the lack of predictive eye movements on false-belief tasks by autistic adults. This was achieved through implementing a multi-trial design with matched true-belief conditions, and both high and low inhibitory demand false-belief conditions. We also sought to inspect if any group differences were related to group-specific patterns of attention on key events. Autistic adults were compared with non-autistic adults on this adapted implicit mentalizing task and an established explicit task. The two groups performed equally well in the explicit task; however, autistic adults did not show anticipatory-looking behaviour in the false-belief trials of the implicit task. Critically, both groups showed the same attentional distribution in the implicit task prior to action prediction, indicating that autistic adults process information from social cues in the same way as non-autistic adults, but this information is not then used to update mental representations. Our findings further document that many autistic people struggle to spontaneously mentalize others’ beliefs, and this non-verbal paradigm holds promise for use with a wide range of ages and abilities.

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41. Yost RT, Scott AM, Kurbaj JM, Walshe-Roussel B, Dukas R, Simon AF. Recovery from social isolation requires dopamine in males, but not the autism-related gene nlg3 in either sex. R Soc Open Sci;2024 (Jul);11(7):240604.

Social isolation causes profound changes in social behaviour in a variety of species. However, the genetic and molecular mechanisms modulating behavioural responses to social isolation and social recovery remain to be elucidated. Here, we quantified the behavioural response of vinegar flies to social isolation using two distinct protocols (social space preference and sociability, the spontaneous tendencies to form groups). We found that social isolation increased social space and reduced sociability. These effects of social isolation were reversible and could be reduced after 3 days of group housing. Flies with a loss of function of neuroligin3 (orthologue of autism-related neuroligin genes) with known increased social space in a socially enriched environment were still able to recover from social isolation. We also show that dopamine (DA) is needed for a response to social isolation and recovery in males but not in females. Furthermore, only in males, DA levels are reduced after isolation and are not recovered after group housing. Finally, in socially enriched flies mutant for neuroligin3, DA levels are reduced in males, but not in females. We propose a model to explain how DA and neuroligin3 are involved in the behavioural response to social isolation and its recovery in a dynamic and sex-specific manner.

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42. Zupin L, Sahyoun C, Krauss B, Dagri A, Rocco EM, Barbi E, Celsi F. Effectiveness of pharmacological procedural sedation in children with autism spectrum disorder: A systematic review and meta-analysis. Acta Paediatr;2024 (Jul 31)

AIM: Management of primary healthcare and routine minor procedures for children with autism spectrum disorder (ASD) can be challenging; therefore, when behavioural strategies fail, sedative medications are often employed. We evaluated the effectiveness of the current pharmacological strategies for managing children with ASD. METHODS: We performed a systematic review and meta-analysis of the current approaches for procedural sedation in children with ASD. RESULTS: Twenty studies met inclusion criteria. Dexmedetomidine, midazolam, propofol and chloral hydrate were the most efficient agents for successful procedures, while propofol had the highest number of adverse events. The most frequently used agents were dexmedetomidine and midazolam or a combination of the two, and the effectiveness of dexmedetomidine plus midazolam was superior to dexmedetomidine alone. CONCLUSION: Multiple effective drug regimens exist for procedural sedation in children with ASD. These results could support the development of specific guidelines for procedural sedation in children with ASD.

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