1. Adak P, Banerjee N, Sinha S, Bandyopadhyay AK. Gamma-Aminobutyric Acid Type A Receptor Variants are Associated with Autism Spectrum Disorders. J Mol Neurosci;2023 (Mar 21)

Despite several efforts to identify the causes of autism spectrum disorders (ASD), its etiology remains still unclear. Among other aspects, genes that encode neurotransmitter receptors are strong candidates for autism. Here, we wanted to study some genetic variants of gamma-aminobutyric acid (GABA) receptor subunit genes GABRB3, GABRG3, and GABRA5, located on chromosome 15q11-q13 that might contribute to the etiology of ASD in the affected children of West Bengal. rs7180158, rs2081648 (GABRB3); rs12910555 (GABRG3); rs35399885, rs35832850 (GABRA5) were analyzed in 316 children with ASD and 227 healthy controls. Phenotypic associations were evaluated by Childhood Autism Rating Scale (CARS). Gene expression levels were measured by quantitative real-time PCR. ASD probands showed a higher frequency of « A » allele for rs7180158, « G » allele for rs12901555, and « T » allele for rs35399885. The GA + AA genotypes (rs7180158) and CT + TT genotypes (rs35399885) were found to confer significant risk towards ASD. rs2081648 was found to have transmission bias in the family. Additionally, these variants were found to be associated with one or more of ASD-associated phenotypic traits. Multifactor dimensionality reduction (MDR) analyses showed mostly independent contributory effects of some of the variants. Again, the gene expression levels of GABRB3, GABRG3, and GABRA5 were downregulated in the cases than the controls. ForGABRA5 rs35399885, the CC genotypes corresponded to higher expression levels compared to the other groups. This study reveals that genetic variants of GABA(A) receptor subunit genes are significantly associated with ASD. No data for the mentioned variants are found in the population of West Bengal, India.

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2. Almasoud H, Alqahtani S. Potential impact of autism services on the quality of life of individuals with autism spectrum disorder and their families. Res Dev Disabil;2023 (Mar 21);136:104492.

Autism spectrum disorder (ASD) is a lifelong condition that requires autism-specific services. However, the quality of autism services in Saudi Arabia has rarely been examined. Therefore, exploring issues from the parents’ perspective is crucial to improve the quality of life (QOL) outcomes for such a population. Semi-structured interviews were administered to nine parents of individuals with ASD, and thematic analysis was used for data analysis. Results showed that parents’ experiences regarding the quality of autism services varied. In addition, the quality of autism services must be further developed to meet the diverse needs of individuals with ASD and their families, in line with the 2030 vision of Saudi Arabia, which prioritises the QOL of individuals with a disability and their families. This study highlighted some influencing factors of the quality of autism services and QOL of individuals with ASD and their families from the parents’ perspective. This study concluded that further research is necessary to gain in-depth understanding of the influencing factors of the quality of national autism services. Overall, the reasons behind the diversity in experiences amongst parents of individuals with ASD regarding the quality of autism services must be further explored.

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3. Berg KA, Ishler KJ, Lytle S, Kaplan R, Wang F, Olgac T, Miner S, Edguer MN, Biegel DE. « Don’t Promise Something You can’t Deliver: » Caregivers’ Advice for Improving Services to Adolescents and Young Adults with Autism. Autism Res Treat;2023;2023:6597554.

Approximately 50,000 youths with autism spectrum disorders (ASD) exit U.S. high schools yearly to enter adult systems of care, many of whom remain dependent on family for day-to-day care and service system navigation. As part of a larger study, 174 family caregivers for adolescents or young adults with ASD were asked what advice they would give service providers about how to improve services for youth with ASD. Reflexive thematic analysis identified a framework of five directives: (1) provide a roadmap to services; (2) improve service access; (3) fill gaps to address unmet needs; (4) educate themselves, their families, and society about autism; and (5) operate from a relationship-building paradigm with families. Education, health, and social service providers, as well as policymakers, can use these directives to better assist youth with ASD and their families in the transition to adulthood.

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4. Bourne MJ, Smeltzer SC, Kelly MM, Mariani B. ADAPTATION AND TESTING OF THE DEVELOPMENTAL DISABILITY ATTITUDES IN NURSING CARE INSTRUMENT. J Nurs Meas;2023 (Mar 1);31(1):96-108.

Background and Purpose: Individuals with developmental disability (DD) often experience poor health outcomes, potentiated by healthcare inequities. Nurses have the potential to reduce these inequities through the quality of care provided. The quality of care provided by nursing students, the future generation of nurses, is affected by the attitudes of their clinical nursing faculty. The purpose of this study was to adapt and test an instrument to specifically measure the attitudes of clinical nursing faculty toward providing care to people with DD. Methods: The Disability Attitudes in Health Care (DAHC) instrument was adapted to create the new Developmental Disability Attitudes in Nursing Care (DDANC) instrument. Results: Content experts reviewed the DDANC for content validity (CVI = 0.88), followed by testing for internal consistency reliability (Cronbach’s alpha = 0.7). The study respondents had overall positive attitudes toward the care of people with DD. Conclusions: The DDANC is an acceptably valid and reliable instrument to assess attitudes of clinical nursing faculty toward providing care to people with DD.

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5. Clarkson E, Jasper JD, Rose JP, Gaeth GJ, Levin IP. Increased levels of autistic traits are associated with atypical moral judgments. Acta Psychol (Amst);2023 (Mar 21);235:103895.

Despite evidence often showing differences between groups with Autism Spectrum Disorder (ASD) and neurotypical controls in moral judgment, the precise nature of these differences has been difficult to establish. At least two reasons for this are (1) that ASD (and its associated characteristics) is difficult to define and (2) that morality, and the inclinations that undergird it, are hard to measure empirically. These challenges have made conclusive associations between ASD and particular patterns of moral judgment hard to come by. Thus, in the current study, participants levels of a traits associated with ASD were assessed by their responses to a questionnaire (i.e., the Iowa Screener) before they made moral judgments across a set of 20 moral dilemmas that independently assess utilitarian and deontological processing. Interestingly, results indicated that increased levels of autistic traits were associated with fewer moral judgments corresponding to either moral theory; that is, higher levels of autistic traits were associated with atypical patterns of moral judgment. In addition, and consistent with some prior methods (e.g., Gaeth et al., 2016), participant scores on the Iowa Screener, as well as their self-identification, were used to categorize participants between two groups (i.e., ASD and Typical) for exploratory purposes. Taken together, this research better informs the relationship between ASD and its associated traits with moral judgment and can inform certain discrepant findings in the field. Implications and ideas for future research are discussed, such as whether traits associated with ASD might relate to alternative moral inclinations, beyond deontology and utilitarianism.

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6. D’Incal CP, Van Rossem KE, De Man K, Konings A, Van Dijck A, Rizzuti L, Vitriolo A, Testa G, Gozes I, Vanden Berghe W, Kooy RF. Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism. Clin Epigenetics;2023 (Mar 21);15(1):45.

BACKGROUND: Individuals affected with autism often suffer additional co-morbidities such as intellectual disability. The genes contributing to autism cluster on a relatively limited number of cellular pathways, including chromatin remodeling. However, limited information is available on how mutations in single genes can result in such pleiotropic clinical features in affected individuals. In this review, we summarize available information on one of the most frequently mutated genes in syndromic autism the Activity-Dependent Neuroprotective Protein (ADNP). RESULTS: Heterozygous and predicted loss-of-function ADNP mutations in individuals inevitably result in the clinical presentation with the Helsmoortel-Van der Aa syndrome, a frequent form of syndromic autism. ADNP, a zinc finger DNA-binding protein has a role in chromatin remodeling: The protein is associated with the pericentromeric protein HP1, the SWI/SNF core complex protein BRG1, and other members of this chromatin remodeling complex and, in murine stem cells, with the chromodomain helicase CHD4 in a ChAHP complex. ADNP has recently been shown to possess R-loop processing activity. In addition, many additional functions, for instance, in association with cytoskeletal proteins have been linked to ADNP. CONCLUSIONS: We here present an integrated evaluation of all current aspects of gene function and evaluate how abnormalities in chromatin remodeling might relate to the pleiotropic clinical presentation in individual »s » with Helsmoortel-Van der Aa syndrome.

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7. Dufour BD, McBride E, Bartley T, Juarez P, Martínez-Cerdeño V. Distinct patterns of GABAergic interneuron pathology in autism are associated with intellectual impairment and stereotypic behaviors. Autism;2023 (Mar 19):13623613231154053.

Autism spectrum disorder is a neurodevelopmental condition characterized by deficits in sociability and communication and the presence of repetitive behaviors. How specific pathological alterations of the brain contribute to the clinical profile of autism spectrum disorder remains unknown. We previously found that a specific type of inhibitory interneuron is reduced in number in the autism spectrum disorder prefrontal cortex. Here, we assessed the relationship between interneuron reduction and autism spectrum disorder symptom severity. We collected clinical records from autism spectrum disorder (n = 20) and assessed the relationship between the severity of symptoms and interneuron number. We found that the reduced number of inhibitory interneurons that we previously reported is linked to specific symptoms of autism spectrum disorder, particularly stereotypic movements and intellectual impairments.

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8. Freedman AN, Clark J, Eaves LA, Roell K, Oran A, Koval L, Rager J, Santos HP, Jr., Kuban K, Joseph RM, Frazier J, Marsit CJ, Burt AA, O’Shea TM, Fry RC. A multi-omic approach identifies an autism spectrum disorder (ASD) regulatory complex of functional epimutations in placentas from children born preterm. Autism Res;2023 (Mar 20)

Children born preterm are at heightened risk of neurodevelopmental impairments, including Autism Spectrum Disorder (ASD). The placenta is a key regulator of neurodevelopmental processes, though the precise underlying molecular mechanisms remain unclear. Here, we employed a multi-omic approach to identify placental transcriptomic and epigenetic modifications related to ASD diagnosis at age 10, among children born preterm. Working with the extremely low gestational age (ELGAN) cohort, we hypothesized that a pro-inflammatory placental environment would be predictive of ASD diagnosis at age 10. Placental messenger RNA (mRNA) expression, CpG methylation, and microRNA (miRNA) expression were compared among 368 ELGANs (28 children diagnosed with ASD and 340 children without ASD). A total of 111 genes displayed expression levels in the placenta that were associated with ASD. Within these ASD-associated genes is an ASD regulatory complex comprising key genes that predicted ASD case status. Genes with expression that predicted ASD case status included Ewing Sarcoma Breakpoint Region 1 (EWSR1) (OR: 6.57 (95% CI: 2.34, 23.58)) and Bromodomain Adjacent To Zinc Finger Domain 2A (BAZ2A) (OR: 0.12 (95% CI: 0.03, 0.35)). Moreover, of the 111 ASD-associated genes, nine (8.1%) displayed associations with CpG methylation levels, while 14 (12.6%) displayed associations with miRNA expression levels. Among these, LRR Binding FLII Interacting Protein 1 (LRRFIP1) was identified as being under the control of both CpG methylation and miRNAs, displaying an OR of 0.42 (95% CI: 0.17, 0.95). This gene, as well as others identified as having functional epimutations, plays a critical role in immune system regulation and inflammatory response. In summary, a multi-omic approach was used to identify functional epimutations in the placenta that are associated with the development of ASD in children born preterm, highlighting future avenues for intervention.

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9. Gabarron E, Skafle I, Nordahl-Hansen A, Wynn R. Social media interventions for autistic individuals: Systematic review. Front Psychiatry;2023;14:1089452.

BACKGROUND: Research on the use of digital technologies for delivering behavioral interventions has shown mixed evidence on their efficacy for improving both autistic symptoms and co-occurring psychiatric disorders. Little knowledge exists on the specific use or efficacy of using social media in interventions aimed at autistic individuals. OBJECTIVE: To review and describe the current existing evidence-based research on the use of social media in interventions aimed at autistic individuals. METHODS: A search was conducted across 8 databases (PubMed; EMBASE; Cochrane Library; PsycInfo; ERIC; Education Source; Web of Science; and IEEE Xplore). We included primary studies and reviews that dealt with autism spectrum disorder (ASD); described interventions that use social media; and reported results from the intervention. The quality of the evidence of the included primary studies was graded according to the GRADE criteria, and the risk of bias in systematic reviews was assessed by drawing on the AMSTAR guidelines. Results were synthesized and sorted by quality of evidence. RESULTS: A total of nine articles were included in this review: eight primary studies (five non-randomized interventions and three randomized interventions) and one systematic review. The total number of participants with an ASD-diagnosis in the included studies was 164 (aged 5 to 22 years old). Studies weighted as being of moderate quality of evidence have reported significant positive effects in the groups that received the social media interventions: increased social engagement and participation in life situations; increased physical activity level; increased improvement on occupational performance, specified goals, and behavioral problems; and decreased plaque scores coupled with parent reports of intervention success. None of the studies have reported any negative effects linked to social media interventions. CONCLUSION: There is very little evidence of good quality on the use of social media in interventions aimed at autistic individuals. While there is a need for more high-quality studies, all the included studies, with one exception found positive results of the interventions. These findings are encouraging, suggesting that social media-based interventions may in fact be useful for supporting behavioral changes in autistic individuals. SYSTEMATIC REVIEW REGISTRATION: https://www.crd.york.ac.uk/PROSPERO/display_record.php?RecordID=337185, identifier CRD42022337185.

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10. George-Levi S, Laslo-Roth R, Ben Yaakov L. Vulnerability to loneliness among fathers of children with autism spectrum disorder: The role of interpersonal and familial resources. Fam Process;2023 (Mar 21):e12877.

Fathers of children with autism spectrum disorder (ASD) might be at increased risk of becoming lonely. In the current study, we explored the differences in loneliness between fathers of children with and without ASD and identified interpersonal and familial resources (social support, family cohesion, and family adaptability) that might be related to levels of loneliness. Using a cross-sectional design, 348 fathers (of 114 children with ASD and 234 without) completed a series of questionnaires. Fathers of children with ASD reported higher levels of loneliness and lower levels of social support and family cohesion. A moderated mediation model indicated that the interaction between social support and family cohesion mediated the association between ASD group (i.e., ASD vs. non-ASD) and fathers’ loneliness. Findings suggest the importance of interpersonal and familial resources (e.g., perceived social support and family cohesion) for family members at risk of loneliness.

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11. Granillo L, Iosif AM, Goodrich A, Snyder NW, Schmidt RJ. Maternal androgens and autism spectrum disorder in the MARBLES prospective cohort study. Res Autism Spectr Disord;2022 (Nov);99

BACKGROUND: Maternal hormonal risk factors for autism spectrum disorder (ASD) in offspring could intersect genetic and environmental risk factors. OBJECTIVES: This analysis explored ASD risk in association with maternal testosterone, androstenedione, and dehydroepiandrosterone (DHEA) measured in first, second, and third trimesters of pregnancy. METHODS: MARBLES is a prospective pregnancy cohort study based at the MIND Institute in Northern California that enrolls mothers who have at least one child previously diagnosed with ASD and are expecting, or planning to have another child. At 36 months the younger sibling is clinically classified as having ASD, or as non-typically developing (Non-TD), or typically developing (TD). Maternal androgens during pregnancy were measured in serum samples from 196 mothers. Multivariable logistic regression models estimated risk of ASD and Non-TD in offspring compared to TD, in relation to the log-transformed maternal androgen concentrations, at each trimester. RESULTS: Non-significant associations were observed, and borderline significant associations were only observed in some stratified unadjusted models. Second trimester maternal testosterone was non-significantly associated with ASD in female offspring, although not after adjustment, aRR 1.54 (95% CI 0.71, 3.33), and second trimester maternal DHEA was non-significantly associated with non-TD in male offspring, again not after adjustment, aRR 0.50 (95% CI 0.21, 1.21). Secondary analysis suggested that third trimester androgen concentrations in mothers with male offspring had significant or near significant associations with their child’s Social Responsiveness Scale score. CONCLUSION: No significant associations were found between maternal androgen concentrations and risk of ASD or Non-TD in the child.

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12. Jose P, Kumar SS, Chandru BA, Sundaram S, Vijayanand SM, Kutty VR, Varma RP. Local governments and community-based rehabilitation for developmental disabilities: leaving no one behind. Public Health Action;2023 (Mar 21);13(Suppl 1):37-43.

SETTING: The BUDS (not an acronym) institutions comprise a community-based rehabilitation initiative for children and families affected by developmental disabilities in Kerala, India. OBJECTIVE: To explore the role of local governments in the establishment and functioning of BUDS institutions. DESIGN: We used qualitative approaches comprising document review and in-depth interviews with trainers, parents of children with developmental disabilities and elected representatives. RESULTS: BUDS was created by Kudumbasree, a decentralised women empowerment and poverty alleviation initiative. Our findings illustrate the role of local governments in facilitating expansion through the establishment of infrastructure, therapy equipment, transportation and financial allocation for these, as well as through the development of human resources, assistance with enrolment for financial assistance and insurance programmes, and coordination with education and health sectors. Programme implementation varied considerably regarding available infrastructure, staffing and services among the institutions studied. The institutions were physically closed during the COVID-19 pandemic but continued to function in alternative ways. CONCLUSION: Despite variable implementation, local governments have supported the expansion of BUDS institutions, thereby creating more spaces for inclusive and integrated education and rehabilitation of persons with disabilities in Kerala. The expansion over the past two decades and measures during the COVID-19 pandemic suggest resilience and sustainability of the model.

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13. Kyriakopoulou V, Davidson A, Chew A, Gupta N, Arichi T, Nosarti C, Rutherford MA. Characterisation of ASD traits among a cohort of children with isolated fetal ventriculomegaly. Nat Commun;2023 (Mar 21);14(1):1550.

Fetal ventriculomegaly is the most common antenatally-diagnosed brain abnormality. Imaging studies in antenatal isolated ventriculomegaly demonstrate enlarged ventricles and cortical overgrowth which are also present in children with autism-spectrum disorder/condition (ASD). We investigate the presence of ASD traits in a cohort of children (n = 24 [20 males/4 females]) with isolated fetal ventriculomegaly, compared with 10 controls (n = 10 [6 males/4 females]). Neurodevelopmental outcome at school age included IQ, ASD traits (ADOS-2), sustained attention, neurological functioning, behaviour, executive function, sensory processing, co-ordination, and adaptive behaviours. Pre-school language development was assessed at 2 years. 37.5% of children, all male, in the ventriculomegaly cohort scored above threshold for autism/ASD classification. Pre-school language delay predicted an ADOS-2 autism/ASD classification with 73.3% specificity/66.7% sensitivity. Greater pre-school language delay was associated with more ASD symptoms. In this study, the neurodevelopment of children with isolated fetal ventriculomegaly, associated with altered cortical development, includes ASD traits, difficulties in sustained attention, working memory and sensation-seeking behaviours.

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14. Li K, Liang X, Xie X, Tian L, Yan J, Lin B, Liu H, Lai W, Liu X, Xi Z. Role of SHANK3 in concentrated ambient PM2. 5 exposure induced autism-like phenotype. Heliyon;2023 (Mar);9(3):e14328.

Perinatal air pollution plays an important role in the development of autism. However, research on the pathogenic mechanism remains limited. In this study, the model of systemic inhalation of concentrated approximately 8-fold the level (mean concentration was 224 μg/m(3)) reported in ambient outdoor air of PM2.5 (particulate matters that are 2.5 μm or less in diameter)in early-postnatal male Sprague-Dawley (SD) rats was established. Through a series of autism-related behavioral tests, it was identified that young rats (postnatal day 1-day21, named PND1-PND21) exposed to PM2.5 exhibited typical autistic phenotypes, such as impaired language communication, abnormal repetitive and stereotyped behaviors, and impaired social skills. Moreover, synaptic abnormalities have been found in the brain tissues of young rats exposed to PM2.5. In terms of the molecular mechanism, we found that the levels of SH3 and multiple ankyrin repeat domains 3 (SHANK3) expression and key molecular proteins in the downstream signaling pathways were decreased in the brain tissues of the exposed rats. Finally, at the epigenetic level, SHANK3 methylation levels were increased in young rats exposed to PM2.5. In conclusion, the study revealed that PM2.5 exposure might induce the early postnatal autism through the SHANK3 signaling pathway by affecting the SHANK3 methylation levels and reducing the SHANK3 expression levels. The study could provide new ideas for autism etiology and a theoretical basis for the prevention and treatment of autism in children.

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15. Li Y, Xie T, Cardoso Melo RD, de Vries M, Lakerveld J, Zijlema W, Hartman CA. Longitudinal effects of environmental noise and air pollution exposure on autism spectrum disorder and attention-deficit/hyperactivity disorder during adolescence and early adulthood: The TRAILS study. Environ Res;2023 (Mar 20);227:115704.

BACKGROUND: Exposure to ambient noise and air pollution may affect the manifestation and severity of Autism Spectrum Disorder (ASD) and Attention-Deficit/Hyperactivity Disorder (ADHD). However, evidence is limited, and most studies solely assessed environmental exposures during pregnancy and early childhood. OBJECTIVE: To examine the longitudinal effects of ambient noise and air pollutants on ASD and ADHD symptom severity during adolescence and early adulthood. METHODS: Using a longitudinal design, we included 2750 children between 10 and 12 years old from the TRacking Adolescents’ Individual Lives Survey (TRAILS) in the Netherlands, who were assessed in 6 waves from 2001 to 2017. ASD was measured by the Children’s Social Behavior Questionnaire and the Adult Social Behavior Questionnaire. ADHD was measured by Child Behavior Checklist and the Adult Behavior Checklist. Ambient noise and air pollution exposures, including Ozone (O(3)), soot, sulfur dioxide (SO(2)), nitrogen dioxide (NO(2)), particulate matter 2.5 (PM(2.5)), and PM(10) were modeled at the residential level according to standardized protocols. The longitudinal associations between exposures and symptom outcomes were examined using linear mixed models. RESULTS: We found evidence that higher levels of exposure to PM were associated with more severe ASD and ADHD symptoms. This association decreased over time. We did not observe any other consistent associations of noise or other air pollutants with ASD and ADHD severity. CONCLUSION: The current study provides evidence for the negative impact of PM on ASD and ADHD symptoms. We did not find evidence of the negative health impact of other air pollutants and noise exposures on ASD or ADHD symptoms. Our study adds more evidence on the presence of associations between PM air pollution and neurodevelopmental diseases among adolescents and young adults.

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16. Little LM, Wallisch A, Dunn W, Tomchek S. A Telehealth Delivered Toilet Training Intervention for Children with Autism. OTJR (Thorofare N J);2023 (Mar 21):15394492231159903.

BACKGROUND: Independence in toileting is a vital skill, yet toilet-training interventions for children with autism are limited. OBJECTIVES: We investigated the acceptability and preliminary efficacy of a hybrid telehealth intervention that used synchronous individualized coaching sessions and asynchronous online educational materials to support parents in toilet training their children with autism. METHOD: Participants included 34 families of children with autism ages 2 to 8 years. Measures were administered at pre- and postintervention (10-12 weeks) and included the Toileting Behavior Questionnaire, Goal Attainment Scaling, and Canadian Occupational Performance Measure. RESULTS: Twenty-five families completed all intervention procedures. Parents found the intervention highly acceptable and reported significant improvements in child toileting behaviors; however, families accessed the asynchronous intervention materials at a low rate. CONCLUSION: A parent coaching model delivered through telehealth may be a promising method to increase toileting independence among families of young children with autism.

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17. Parenteau CI, Lampinen LL, Ghods SS, Taylor JL, Adams RE, Bishop SL, Zheng S. Correction: Self-reported Everyday Sources of Happiness and Unhappiness in Autistic Adults. J Autism Dev Disord;2023 (Mar 20)

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18. Pinto-Bernal MJ, Sierra MS, Munera M, Casas D, Villa-Moreno A, Frizera-Neto A, Stoelen MF, Belpaeme T, Cifuentes CA. Do different robot appearances change emotion recognition in children with ASD?. Front Neurorobot;2023;17:1044491.

INTRODUCTION: Socially Assistive Robotics has emerged as a potential tool for rehabilitating cognitive and developmental disorders in children with autism. Social robots found in the literature are often able to teach critical social skills, such as emotion recognition and physical interaction. Even though there are promising results in clinical studies, there is a lack of guidelines on selecting the appropriate robot and how to design and implement the child-robot interaction. METHODS: This work aims to evaluate the impacts of a social robot designed with three different appearances according to the results of a participatory design (PD) process with the community. A validation study in the emotion recognition task was carried out with 21 children with autism. RESULTS: Spectrum disorder results showed that robot-like appearances reached a higher percentage of children’s attention and that participants performed better when recognizing simple emotions, such as happiness and sadness. DISCUSSION: This study offers empirical support for continuing research on using SAR to promote social interaction with children with ASD. Further long-term research will help to identify the differences between high and low-functioning children.

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19. Shakya S, Parsekar SS, Ramachandran S, Madapura SS, Balakrishna Shetty H, Anaby D, Gopalakrishna S, Venkatesan VS, Rao BK. Physiotherapy interventions for head and trunk control in children with developmental disabilities: A scoping review protocol. F1000Res;2022;11:1074.

Background: Head and trunk control is prerequisite skill that maximizes engagement and participation in one’s environment by integrating vision, oromotor skill, arm control and respiration. Various physiotherapy and technology-based interventions have been utilized to facilitate head and trunk control in children with developmental disabilities. This scoping review is planned to map and summarize existing studies from the scientific literature on physiotherapy and technology-based interventions for head and trunk control in children with developmental disabilities. Methods: The scoping review will utilize the Joanna Briggs Institute scoping review methodology. The review will cover studies including children and adolescents aged between six months and 17 years 11 months 29 days, with developmental disabilities where in child finds difficulty in lifting its head and aligning head and trunk. We will include randomized controlled trial (RCT), non-RCT, quasi-experimental trial, and systematic reviews that have employed physiotherapy and technology-based interventions. Database-specific search strategy will be used to search records in Medline (PubMed and Web of Science), Embase, Scopus, CINAHL, PEDro, and Cochrane Library. Additionally, various grey literatures and clinical-trial registries will be searched. Two reviewers, independently, will screen and extract the data. Tables and visual representations will be utilized to present the extracted data. Registration details: The protocol has been registered in Open Science Framework, DOI:  10.17605/OSF.IO/B3RSU (22 (nd) August 2022).

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20. Shamim S, Khan N, Greene DL, Habiba UE, Umer A. The promise of autologous and allogeneic cellular therapies in the clinical trials of autism spectrum disorder. Regen Med;2023 (Apr);18(4):347-361.

Autism spectrum disorder (ASD) is a consortium of developmental conditions. As scientists have not yet identified the exact underlying cause for these disorders, it is not easy to narrow down a singular therapy to propose a reliable cure. The preponderance of research suggests that stem-cell therapy improves aspects of outcome measure scales in patients with ASD; therefore, future studies should give us more confidence in the results. This overview considers the data that have emerged from the small set of published trials conducted using different approaches in stem-cell therapy for ASD, evaluates their results and proposes additional steps that could be taken if this field of endeavor is to be pursued further.

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21. Song C, Broadie K. Fragile X mental retardation protein coordinates neuron-to-glia communication for clearance of developmentally transient brain neurons. Proc Natl Acad Sci U S A;2023 (Mar 21);120(12):e2216887120.

In the developmental remodeling of brain circuits, neurons are removed by glial phagocytosis to optimize adult behavior. Fragile X mental retardation protein (FMRP) regulates neuron-to-glia signaling to drive glial phagocytosis for targeted neuron pruning. We find that FMRP acts in a mothers against decapentaplegic (Mad)-insulin receptor (InR)-protein kinase B (Akt) pathway to regulate pretaporter (Prtp) and amyloid precursor protein-like (APPL) signals directing this glial clearance. Neuronal RNAi of Drosophila fragile X mental retardation 1 (dfmr1) elevates mad transcript levels and increases pMad signaling. Neuronal dfmr1 and mad RNAi both elevate phospho-protein kinase B (pAkt) and delay neuron removal but cause opposite effects on InR expression. Genetically correcting pAkt levels in the mad RNAi background restores normal remodeling. Consistently, neuronal dfmr1 and mad RNAi both decrease Prtp levels, whereas neuronal InR and akt RNAi increase Prtp levels, indicating FMRP works with pMad and insulin signaling to tightly regulate Prtp signaling and thus control glial phagocytosis for correct circuit remodeling. Neuronal dfmr1 and mad and akt RNAi all decrease APPL levels, with the pathway signaling higher glial endolysosome activity for phagocytosis. These findings reveal a FMRP-dependent control pathway for neuron-to-glia communication in neuronal pruning, identifying potential molecular mechanisms for devising fragile X syndrome treatments.

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22. Yun J, Kang B, Lee JR, Lee H, Lee JY. Prevalence and severity of COVID-19 among children and adolescents with autism spectrum disorders in the Republic of Korea. Autism;2023 (Mar 19):13623613231160631.

It is more difficult to prevent coronavirus disease 2019 in children and adolescents with autism spectrum disorder, as they have trouble communicating and adjusting to their new daily lives like wearing masks and social distancing. However, there have not been many studies that focused on coronavirus disease 2019 among children and adolescents with autism spectrum disorder. We included all Korean citizens under the age of 19 as our study subjects. Among them, we found out the prevalence, severity, and case fatality of coronavirus disease 2019 in children and adolescents with and without autism spectrum disorder. The prevalence of coronavirus disease 2019 among children and adolescents with autism spectrum disorder was lower than that of those without autism spectrum disorder. For severity, children and adolescents with autism spectrum disorder were more likely to enter severe stages of disease and had higher hospitalization rates than those without autism spectrum disorder. There were no deaths among children and adolescents with autism spectrum disorder, while a few died among children and adolescents without autism spectrum disorder. However, due to the small number of deaths, it was difficult to determine whether there was a link between autism spectrum disorder and coronavirus disease 2019 deaths. We found that the appropriate quarantine policies have played a great role in sustaining overall low prevalence and higher hospitalization rates among children and adolescents with autism spectrum disorder than those without autism spectrum disorder. Furthermore, because Korea has fewer schools and facilities (i.e. personal care, social training, and skilled nursing facility) for children and adolescents with autism spectrum disorder than other countries, those with autism spectrum disorder have fewer social contacts than even before the COVID-19 pandemic.

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23. Zhang J, Zhu G, Wan L, Liang Y, Liu X, Yan H, Zhang B, Yang G. Effect of fecal microbiota transplantation in children with autism spectrum disorder: A systematic review. Front Psychiatry;2023;14:1123658.

BACKGROUND: Fecal microbiota transplantation (FMT) may be helpful in the treatment of autism spectrum disorder (ASD) as rebalancing the gut microbiome has been shown to potentially improve behavioral symptoms in children with ASD. METHODS: This systematic review was conducted to assess the effect of FMT for children with ASD. The Embase, PubMed, Web of Science, and Cochrane Library databases were searched for articles published from inception to October 6, 2022. Two reviewers independently screened the identified records and undertook data extraction. RESULTS: The search identified a total of five studies: two prospective open-label studies, two retrospective observational studies, and a case report; however, no randomized controlled trial was identified. All five studies reported a significant post-FMT-treatment improvement in neuropsychological assessment of ASD. The two prospective open-label studies suggested that the Autism Behavior Checklist (ABC) score, and the Social Responsiveness Scale (SRS) score at the posttreatment assessment decreased from the baseline (Wilcoxon signed-rank test; all p < 0.01]). The two retrospective observational studies suggested that FMT helped to improve the ASD symptoms. One observational study reported that the Childhood Autism Rating Scale (CARS) score and ABC score of the constipation group decreased from the baseline after the second course assessment (CARS [baseline: mean 35.25 ± standard deviation 4.36, second course: 32.5 ± 3.1, p = 0.015]; ABC [baseline: 56.21 ± 16.08, second course: 46.54 ± 16.54, p = 0.046]). Another observational study found that both ABC and CARS scores decreased as the number of FMT courses increased, and significant differences were found at the end of each course as compared with the baseline. CONCLUSION: Compared with the baseline, FMT significantly improved symptoms of autism in children with ASD in observational studies. However, rigorously designed randomized controlled clinical trials are needed to establish the safety and efficacy of FMT as a treatment for ASD.

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