1. Adams RE, Lampinen L, Zheng S, Sullivan V, Taylor JL, Bishop SL. Associations between social activities and depressive symptoms in adolescents and young adults with autism spectrum disorder: Testing the indirect effects of loneliness. Autism;2023 (May 22):13623613231173859.

Previous studies have found that social activities and depressive symptoms in adolescents and young adults with autism spectrum disorder are related. To better understand the relationship between these issues, this study examined the frequency of various types of social activities as well as if the participants felt that the frequency of time spent in the activity met their personal needs. In addition, the role of loneliness was tested as a possible way to understand the relationship between activities and depressive symptoms. To test these ideas, 321 participants who were recruited from the Simons Foundation Powering Autism Research for Knowledge (SPARK) research match registry and completed online measures of social activities, depressive symptoms, and loneliness. While the specific pattern was different for individual activities, it was found that those who felt that their current frequency of activities did not meet their needs had higher rates of depressive symptoms than those who felt they did meet their needs. Also, loneliness helps to understand relationship between social activities and depressive symptoms. The findings were discussed in light of previous study findings, interpersonal theories of depression, and clinical implications.

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2. Belzer K, Flake E, Kiger M. Enhancing Resident Education in Autism Diagnosis: Training on the Screening Tool for Autism in Toddlers. J Dev Behav Pediatr;2023 (May 19)

OBJECTIVE: Pediatricians feel inadequately prepared to diagnose and manage autism spectrum disorders (ASDs). We developed a curriculum that trains pediatric residents in the Screening Tool for Autism in Toddlers and Young Children (STAT), a tool used to diagnose ASD, and assessed its impact. METHODS: Pediatric residents completed training in the STAT that included interactive video and practice-based elements. Residents completed pretraining and posttraining surveys assessing comfort with diagnosing and treating ASD, knowledge-based pretests and posttests, posttraining interviews, and follow-up assessments at 6 and 12 months after training. RESULTS: Thirty-two residents completed the training. Posttest scores significantly increased [M (SD) 9.8 (2.4) vs 11.7 (2), p < 0.0001]. Knowledge gains were not maintained at 6-month follow-up. Residents reported increased comfort with several ASD management methods and an increased likelihood of using the STAT. More residents reported using the STAT at follow-up: 2 of 29 before training, 5 of 11 at 6 months, and 3 of 13 at 12 months. We identified 4 themes in interview responses: (1) increased sense of empowerment in managing patients with ASD but ongoing reluctance to make a formal diagnosis, (2) logistical barriers affected successful implementation of the STAT, (3) access to developmental pediatricians played an essential role in comfort levels, and (4) the main educational value of the STAT training came from interactive components. CONCLUSION: An ASD curriculum including training in the STAT increased resident knowledge and comfort in diagnosing and managing ASD. Although logistical barriers continue to affect the ability of general pediatricians to diagnose ASD, use of this curriculum has potential to improve long-term outcomes.

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3. Bitsika V, Elmose M, Mertika A, Sharpley CF, Ladopoulou K, Kampakos C, Syriopoulou-Delli CK. Occurrence and correlates of anxiety and depression in carers of autistic children across three nations. Int J Dev Disabil;2023;69(3):362-370.

PURPOSE: Caring for an autistic child is associated with elevated stress, anxiety and depression. Although some data suggest that ‘child’ or ‘carer’ factors may moderate the severity of carer distress, relatively few international comparisons have been made, limiting the generalizability of previous findings. This study aimed to address this issue. METHOD: A survey-based comparison was made of carers from three nations (Australia, Denmark, Greece), and the effects of demographic, child, and carer variables upon carer anxiety and depression were investigated. RESULTS: Only limited cross-nation consistency was found for nation, child, or carer variables and their effects upon carer anxiety or depression. CONCLUSION: The application of universal treatment models for carer anxiety and depression may be of differing value across nations.

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4. Cao C, Wang D, Zou M, Sun C, Wu L. Untargeted metabolomics reveals hepatic metabolic disorder in the BTBR mouse model of autism and the significant role of liver in autism. Cell Biochem Funct;2023 (May 22)

Autism spectrum disorder (ASD) is a neurodevelopmental disorder, and the etiology is unknown. Metabolic dysfunction is present in patients with ASD. In the current study, untargeted metabolomics was employed to screen the differential metabolites in the liver of BTBR mouse model of autism, and MetaboAnalyst 4.0 was used for metabolic pathway analysis. Mice were killed, and liver samples were collected for untargeted metabolomics analysis and examination of histopathology. Finally, 12 differential metabolites were identified. The intensities of phenylethylamine, 4-Guanidinobutanoic acid, leukotrieneD4, and SM(d18:1/24:1(15Z)) were significantly upregulated (p < .01), and the intensities of estradiol, CMP-N-glycoloylneuraminate, retinoyl β-glucuronide,4-phosphopantothenoylcysteine, aldophosphamide, taurochenodesoxycholic acid, taurocholic acid, and dephospho-CoA were significantly downregulated (p < .01) in the BTBR group compared with C57 control group, indicating that differences between BTBR and C57 groups were observed in metabolic patterns. Disturbed pathways of the BTBR mice involved lipid metabolism, retinol metabolism, and amino acid and energy metabolism, revealing that bile acid-mediated activation of LXRα might contribute to metabolic dysfunction of lipid and leukotriene D4 produced by the activation of 5-LOX led to hepatic inflammation. Pathological changes in the liver tissue, such as hepatocyte vacuolization, and small amounts of inflammatory and cell necrosis, further supported metabolomic results. Moreover, Spearman's rank correlation revealed that there is a strong relationship between metabolites across liver and cortex, suggesting liver may exert action by connecting peripheral and neural systems. These findings were likely to be of pathological importance or a cause/consequence of autism, and may provide insight into key metabolic dysfunction to target potential therapeutic strategies relating to ASD.

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5. Chapple M, Davis P, Billington J, Corcoran R. Exploring the different cognitive, emotional and imaginative experiences of autistic and non-autistic adult readers when contemplating serious literature as compared to non-fiction. Front Psychol;2023;14:1001268.

INTRODUCTION: Recent research has demonstrated how reflections on serious literature can challenge dominant social-deficit views of autism. This method enables autistic readers to explore social realities more slowly and carefully, encouraging detail-focused considerations. Previous research has also shown that autistic and non-autistic readers reflecting on serious literature together are able to achieve mutuality in a way that enables them to overcome the double empathy problem. However, the advantages of reading aloud designs have yet to be explored with autistic and non-autistic readers due to previous concerns amongst autistic people on the issue of being read aloud to. The present study aimed to explore how an adapted shared reading design that compared serious literature and non-fiction would enable autistic and non-autistic readers to imaginatively engage in the reading experience. METHODS: Seven autistic and six non-autistic participants read 8 short text extracts alone while listening to pre-recorded audio of an experienced reader reading each text aloud. Participants completed a reflective questionnaire for each text and a follow-up interview where moving parts of the text were then re-read aloud before discussion. Half of these texts were serious literature, while the other half were non-fiction. Similarly, half of the texts explored fictional social realities that depicted a lack of mutuality, or non-fiction accounts of autism; while the other half explored broader emotional experiences. RESULTS: Thematic and literary analysis of participant reflections and follow-up interviews revealed three main themes: (1) From Surface Reading to Intuitive Engagement, (2) Imaginative Feeling and (3) Going Forward from the Reading Experience. DISCUSSION: The findings showed that autistic readers were better able to hold onto the detailed complexity of serious literature, while non-autistic readers tended to reduce information down to key ideas and understandings for later generalization. Findings are discussed in relation to future shared reading designs.

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6. Datu JAD. Knowledge with kindness is power! Knowledge about autism and kindness relate to better attitude towards persons with autism spectrum disorder. Int J Dev Disabil;2023;69(3):452-456.

Prior studies have shown inconclusive evidence on how knowledge predicts attitude towards individuals with autism spectrum disorders (ASD) in diverse cultural contexts. There is also dearth of research on psychological resources that facilitate inclusive attitude towards students with ASD. This study examines the links of kindness and knowledge about autism to attitude towards ASD among Filipino high school students. An online survey with items measuring kindness and knowledge about autism as well as a vignette-based measure of attitude towards ASD was administered to participants. Results showed that knowledge about autism and kindness positively predicted attitude towards ASD when controlling for age, gender, and previous contact with students with ASD. This research suggests that integrating ASD awareness with kindness education can bolster positive attitude towards persons with autism and other developmental disabilities.

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7. de Maat DA, Van der Hallen R, de Nijs PFA, Visser K, Bastiaansen D, Truijens FL, van Rijen EHM, Ester W, Prinzie P, Jansen PW, Dekker LP. Children with Autism Spectrum Disorder in Times of COVID-19: Examining Emotional and Behavioral Problems, Parental Well-Being, and Resilience. J Autism Dev Disord;2023 (May 22)

This longitudinal study assessed the impact of the COVID-19 pandemic on children with autism spectrum disorder (ASD; n = 62; M(age) = 13 years) by measuring emotional and behavioral problems before and during the pandemic, and by comparing this change to a matched sample of children without ASD (n = 213; M(age) = 16 years). Moreover, we examined whether indicators of parental well-being promoted resilience of children with ASD. Results showed that the mean change in problems did not differ between children with and without ASD. Importantly, some children showed an increase in problems, while others showed resilience. Parental well-being indicators were not related to resilience among children with ASD. The interindividual variability in responses, particularly among children with ASD, highlights the need for personalized support.

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8. Folostina R, Iacob CI, Syriopoulou-Delli CK. Physical activity, sedentary behaviour and quality of life in children with autism: insights from Romania and Greece. Int J Dev Disabil;2023;69(3):432-441.

BACKGROUND: The COVID-19 pandemic has accentuated sedentarism in children, including those with autism. Given the importance of the topic for long-term health, this study aimed to explore the post-pandemic relationship between physical activity, sedentary behaviours and quality of life (QOL) in children with autism from Romania and Greece. METHODS: An online questionnaire collected information regarding physical activity levels in children and their parents, children’s sedentary behaviours and QOL from 83 Romanian parents (m1(age) = 40.1; sd1(age) = 6.37) and 42 Greek parents (m2(age) = 39.5; sd2(age) = 5.45) between March and July 2022. RESULTS: Most Greek children (95%) had 2 or 3 weekly hours of physical education at school/kindergarten, while only 64% of Romanian children had the same level of physical education. Romanian parents reported being more active (χ(2)(weekdays)= 33.7, df = 3, p < .001; (χ(2)(leisure)= 41.8, df = 2, p < .001) than the Greek counterparts. Contrary to expectations, the parents' physical activity did not correlate with the child's physical activity. Sedentary behaviour time was significantly higher in Greek than Romanian children during working days and the weekends. Sedentary behaviour during weekdays predicted the child' QOL. CONCLUSIONS: This exploratory study offers insight into Romanian and Greek children's patterns of physical and sedentary activities. The results stress the need to increase physical activity and decrease sedentary behaviours in children with autism from Romania and Greece. The practical implications and limits of this exploratory approach were further discussed.

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9. Gkiolnta E, Zygopoulou M, Syriopoulou-Delli CK. Robot programming for a child with autism spectrum disorder: a pilot study. Int J Dev Disabil;2023;69(3):424-431.

Children with autism spectrum disorder (ASD) show great interest in technological devices, and especially in robots. Several studies in the field have suggested that socially assistive robotics (SARs) can help children with ASD in the enhancement of their social skills and communication, and in the reduction of their stereotypical behaviors. Few published research results are available regarding robot programming or coding in the context of STEM education (Science, Technology, Engineering and Mathematics) for these children. In this pilot study, the authors designed and implemented educational activities with the robot ‘Codey Rocky’, a ready-to-use robot designed for code learning and programming by primary school children. In this pilot study, the participation of two eight-year-old schoolchildren, a girl with ASD and intellectual deficit and a boy of typical development in triadic interactions with the robot, led to the enhancement of the social and communication skills of the girl with ASD. A decrease in her challenging behaviors was also observed although she manifested repetitive and stereotyped behaviors throughout the educational sessions. The benefits, risks, and implications of the use of SARs for children with ASD are discussed.

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10. Gundogdu U, Aksoy A, Eroglu M. Sensory profiles, behavioral problems, and auditory findings in children with autism spectrum disorder. Int J Dev Disabil;2023;69(3):442-451.

OBJECTIVE: This study examined the relationship between sensory processing (SP) differences and behavioral problems in children with autism spectrum disorder (ASD). We also investigated whether audiological test results could objectively detect auditory processing differences. METHOD: Forty-six children with ASD, ages 3-9 years, were enrolled in the study. Problematic behaviors and sensory processing of children were assessed using scales. The otolaryngologist performed a detailed head and neck examination and a formal audiological examination was performed by an audiologist. RESULTS: Stereotypy, hyperactivity, and irritability were related to sensation seeking. Stereotypy was also associated with visual processing. Touch processing differences was related to irritability and inappropriate speech. Lethargy was associated with auditory processing. There were no differences in SP and behavior problems in the children whose audiological profiles could be measured between those who passed or failed the test. CONCLUSION: There was an association between SP differences and behavioral problems in children with ASD, supporting previous studies. Audiological test results did not reveal the SP differences documented in the parent forms.

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11. Kersten M, Wilson NJ, Pracilio A, Howie V, Trollor J, Buckley T, Morphet J, Bryce J, Griffin K, Cashin A. A scoping review to inform an auditing framework evaluating healthcare environments for inclusion of people with intellectual disability and/or autism. J Intellect Disabil;2023 (May 22):17446295231174282.

People with intellectual disability and/or autism are likely to be in hospital more often, for longer, and have poorer health outcomes. Few audit tools exist to identify their barriers in mainstream healthcare environments. This study aimed to identify evidence of audit characteristics of healthcare contexts specifically for people with intellectual disability and/or autism, for conceptual development of an auditing framework. A scoping review of evaluations of healthcare environments was completed in January 2023. Findings were presented using the PAGER framework. Of the sixteen studies identified, most originated in the UK, nine focused on intellectual disability, four on autism, and three were concerned with mixed diagnosis. Six domains for auditing healthcare environments were identified: care imperatives, communication to individuals, understanding communication from individuals, providing supportive environments of care, supporting positive behaviour, and actions to make things go well. Further research is recommended to refine an audit framework.

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12. Khasakhala E, Bota K, Ayaga G, Sichari M, Wesonga B, Kokonya D. Comorbidity of mental health and autism spectrum disorder: perception of practitioners in management of their challenging behaviour. Int J Dev Disabil;2023;69(3):386-397.

The relationship between mental health problems, Autism Spectrum Disorder (ASD) and challenging behaviour among children and adolescents is complex and multifaceted. The study investigated practitioners’ perception of comorbidity of mental health and ASD in the management of challenging behaviours among children and adolescents in Kenya. Target population was 3490 practitioners. Sample size was 1047, comprising of 38 assessment staff, 27 mental health workers 548 regular teachers, 294 teachers from special schools, and 140 teachers from special units for children with ASD. Stratified and purposive sampling techniques were used. Interviews and structured questionnaires were used. Test-retest yielded a coefficient of 0.78 while Cronbachs’ reliability coefficient was 0.830. There was a positive significant correlation between perception of challenging behaviours and mental health problems (r = .415, p = .000). Challenging behaviour perceptions have a negative significant effect on behaviour management strategies, (β = -0.163, p = .000) implying that the choice of management strategies is dependent on the perceptions. Challenging behaviours accounts for 2.7% variance in the choice of the management strategies, R(2) = .027, F(1,1045) = 28.471, p = .000.The practitioners’ perception of mental health and comorbid ASD, showed that children with ASD, when enduring life stressors, can be at a higher risk of mental health difficulties than their peers There is need for multidisciplinary synergy in developing effective challenging behaviour programmes for children and adolescents with ASD.

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13. Larson E, Jeglum N, Shmays C. Mixed-method evaluation of fidelity of motivational interviewing-based coaching in 5Minutes4Myself Wellness Program for caregivers of children with autism. PEC Innov;2023 (Dec);2:100149.

OBJECTIVE: This mixed method analysis examined fidelity of the motivational interviewing (MI) delivered during the 5Minutes4Myself wellness program for caregivers of children with Autism Spectrum Disorders. METHODS: Coaches used a manualized MI-approach to collaboratively design participants’ individualized wellness programs, and then used it in monthly coaching sessions to support goal pursuit. Audio-recorded consultations and post-participation focus groups were transcribed verbatim. Consultation transcripts were rated for MI adherence using Motivational Interviewing Treatment Integrity Code. Focus group data was coded by the team to identify conceptual categories. RESULTS: Eighty-seven percent of consultations achieved a beginning (competent) level expert-derived MI standard. Caregivers noted that coaches’ MI approach evoked deep emotions and understandings about their lives related to wellness goals, allowed for a permissive flexibility in goal pursuit, and fostered supportive accountability. CONCLUSION: MI was used with high levels of fidelity. Participants described the MI approach as more productive, precise, and useful in addressing their needs compared to other available interventions.

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14. Li X. Correlation between 5-HT, Hcy and the incidence and severity of autism in children. Cell Mol Biol (Noisy-le-grand);2023 (Jan 31);69(1):54-60.

This experiment was conducted to investigate the effects of serotonin or 5-hydroxytryptamine (5-HT) and homocysteine (Hcy) levels on the incidence and severity of autism in children. For this aim,120 autistic children were selected as the study group, and 120 children who took early psychological intervention were included in the study group I, and 120 children who took late psychological intervention were included in study group II. 120 non-autistic children hospitalized in the same period were selected as the control group. The levels of serotonin and Hcy were compared between the two groups. At the same time, the effects of different levels of serotonin and Hcy on the severity of autism in children were compared. Results showed that there were significant differences in 5-HT level, Hcy level, cesarean section, breast milk mode, premature delivery, vitamin B12 level, birth weight and early illness between study group I and control group, and between study group II and control group (all P < 0.01). The ASD score growth rate, ASD score change rate, 5-HT change rate and complications of study group I were lower than those of study group II, but the cure rate was significantly higher than that of study group II (P < 0.01). 5-HT, breast feeding, Hcy, vitamin B12 level, febrile convulsion and traumatic brain injury were the main risk factors for children with autism, while the psychological intervention was the main protective factor, which had a significant positive impact on the severity of children with autism (p < 0.05). 5-HT and Hcy levels have significant predictive effects on the development of children with autism and can be used as predictive indicators for the development of autism. In conclusion, 5-HT, feeding mode, Hcy, vitamin B12 level and febrile convulsion are the main risk factors for autism in children, and there are significant correlations.

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15. Lyall K. What are quantitative traits and how can they be used in autism research?. Autism Res;2023 (May 22)

Quantitative traits are measurable characteristics distributed along a continuous scale thought to relate to underlying biology. There is growing interest in the use of quantitative traits in behavioral and psychiatric research, particularly in research on conditions diagnosed based on reports of behaviors, including autism. This brief commentary describes quantitative traits, including defining what they are, how we can measure them, and key considerations for their use in autism research. Examples of measures include behavioral report scales like the Social Responsiveness Scale and Broader Autism Phenotype Questionnaire, as well as biological measurements, like certain neuroimaging metrics; such measures can capture quantitative traits or constructs like the broader autism phenotype, social communication, and social cognition. Quantitative trait measures align with the Research Domain Criteria (RDoC) approach and can be used in autism research to help gain a better understanding of causal pathways and biological processes. They can also be used to aid identification of genetic and environmental factors involved in such pathways, and thereby lead to an understanding of influences on traits across the entire population. Finally, in some cases, they may be used to gauge treatment response, and assist screening and clinical characterization of phenotype. In addition, practical benefits of quantitative trait measures include improved statistical power relative to categorical classifications and (for some measures) efficiency. Ultimately, research across autism fields may benefit from incorporating quantitative trait measures as a complement to categorical diagnosis to advance understanding of autism and neurodevelopment.

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16. Memisevic H, Pasalic A, Saletovic A. Autism severity level affects working memory and planning but not inhibition, shifting and emotional control. Autism Res;2023 (May 22)

Autistic children often have difficulties in executive functions (EF). These difficulties can, in turn, affect their everyday functioning. It is less clear in what way EF are affected by the severity of autism symptoms in children. We hypothesize that autism severity level does not have the same effect across the different components of EF. In this study, we examined how EF are affected by the autism severity level in a sample of 52 autistic children aged 4-7 years (mean age- 5.4 years, SD- 0.9 years). EF were measured through teachers’ reports on the Behavior Rating Inventory of Executive Functions- Preschool Version. Autism severity level was measured with the Social Communication Questionnaire- Current Form. The results of this study showed that autism severity level impacted two EF, namely Planning and Working memory, and did not affect three EF components: Inhibition, Shifting, and Emotional Control. These results indicate that the cool or cognitive EF are more affected by autism severity level than hot EF. We conclude the article with suggestions for improving EF in autistic children.

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17. Mendez-Vazquez H, Roach RL, Nip K, Chanda S, Sathler MF, Garver T, Danzman RA, Moseley MC, Roberts JP, Koch ON, Steger AA, Lee R, Arikkath J, Kim S. The autism-associated loss of δ-catenin functions disrupts social behavior. Proc Natl Acad Sci U S A;2023 (May 30);120(22):e2300773120.

δ-catenin is expressed in excitatory synapses and functions as an anchor for the glutamatergic AMPA receptor (AMPAR) GluA2 subunit in the postsynaptic density. The glycine 34 to serine (G34S) mutation in the δ-catenin gene has been found in autism spectrum disorder (ASD) patients and results in loss of δ-catenin functions at excitatory synapses, which is presumed to underlie ASD pathogenesis in humans. However, how the G34S mutation causes loss of δ-catenin functions to induce ASD remains unclear. Here, using neuroblastoma cells, we identify that the G34S mutation increases glycogen synthase kinase 3β (GSK3β)-dependent δ-catenin degradation to reduce δ-catenin levels, which likely contributes to the loss of δ-catenin functions. Synaptic δ-catenin and GluA2 levels in the cortex are significantly decreased in mice harboring the δ-catenin G34S mutation. The G34S mutation increases glutamatergic activity in cortical excitatory neurons while it is decreased in inhibitory interneurons, indicating changes in cellular excitation and inhibition. δ-catenin G34S mutant mice also exhibit social dysfunction, a common feature of ASD. Most importantly, pharmacological inhibition of GSK3β activity reverses the G34S-induced loss of δ-catenin function effects in cells and mice. Finally, using δ-catenin knockout mice, we confirm that δ-catenin is required for GSK3β inhibition-induced restoration of normal social behavior in δ-catenin G34S mutant animals. Taken together, we reveal that the loss of δ-catenin functions arising from the ASD-associated G34S mutation induces social dysfunction via alterations in glutamatergic activity and that GSK3β inhibition can reverse δ-catenin G34S-induced synaptic and behavioral deficits.

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18. Meng H, Li Q, Wang J, Yue W, Zhang D, Sun X, Wang L, Li J. The expansion of newborn neurons in hippocampus improves social recognition deficit in a mouse model of autism. Front Psychiatry;2023;14:1162179.

INTRODUCTION: Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders characterized by core symptoms of impaired social interaction and communication. The pathological mechanism and treatment are not clear and need further study. Our previous study found that the deletion of high-risk gene Autism Susceptibility 2 (AUTS2) in mice led to dentate gyrus (DG) hypoplasia that highly associated with impaired social novelty recognition. Here we aim to improve the social deficit through increasing the neurogenesis in the subgranular zone (SGZ) and expanding the newborn granule neurons in DG. METHODS: Three approaches including repeated oxytocin administration, feeding in enriched environment and overexpression of cyclin-dependent kinase 4 (Cdk4)-CyclinD1 complex in DG neural stem cells (NSCs) at the post-weaning stage were conducted. RESULTS: We found that the number of EdU labeled proliferative NSCs or retrovirus labeled newborn neurons was significantly increased after manipulations. The social recognition deficit was also significantly improved. DISCUSSION: Our findings suggested a possible strategy to restore the social deficit through expansion of newborn neurons in hippocampus, which might provide a new insight into the treatment of autism.

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19. Menn KH, Ward EK, Braukmann R, van den Boomen C, Buitelaar J, Hunnius S, Snijders TM. Neural Tracking in Infancy Predicts Language Development in Children With and Without Family History of Autism. Neurobiol Lang (Camb);2022;3(3):495-514.

During speech processing, neural activity in non-autistic adults and infants tracks the speech envelope. Recent research in adults indicates that this neural tracking relates to linguistic knowledge and may be reduced in autism. Such reduced tracking, if present already in infancy, could impede language development. In the current study, we focused on children with a family history of autism, who often show a delay in first language acquisition. We investigated whether differences in tracking of sung nursery rhymes during infancy relate to language development and autism symptoms in childhood. We assessed speech-brain coherence at either 10 or 14 months of age in a total of 22 infants with high likelihood of autism due to family history and 19 infants without family history of autism. We analyzed the relationship between speech-brain coherence in these infants and their vocabulary at 24 months as well as autism symptoms at 36 months. Our results showed significant speech-brain coherence in the 10- and 14-month-old infants. We found no evidence for a relationship between speech-brain coherence and later autism symptoms. Importantly, speech-brain coherence in the stressed syllable rate (1-3 Hz) predicted later vocabulary. Follow-up analyses showed evidence for a relationship between tracking and vocabulary only in 10-month-olds but not in 14-month-olds and indicated possible differences between the likelihood groups. Thus, early tracking of sung nursery rhymes is related to language development in childhood.

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20. Messing A, Apthorp D. Autistic traits are associated with individual differences in finger tapping: an online study. PeerJ;2023;11:e15406.

In a novel online study, we explored whether finger tapping differences are evident in people with autistic traits in the general population. We hypothesised that those with higher autistic traits would show more impairment in finger tapping, and that age would moderate tapping output. The study included a non-diagnosed population of 159 participants aged 18-78 who completed an online measure of autistic traits (the AQ-10) and a measure of finger tapping (the FTT). Results showed those with higher AQ-10 scores recorded lower tapping scores in both hands. Moderation analysis showed younger participants with more autistic traits recorded lower tapping scores for the dominant hand. This suggests motor differences seen in autism studies are evident in the general population.

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21. Mpoulimari I, Zintzaras E. Analysis of convergence of linkage and association studies in autism spectrum disorders. Psychiatr Genet;2023 (Jun 1);33(3):113-124.

Autism spectrum disorder (ASD) is a clinically and genetically heterogeneous group of pervasive neurodevelopmental disorders with a strong hereditary component. Although genome-wide linkage studies (GWLS) and [genome-wide association studies (GWAS)] have previously identified hundreds of ASD risk gene loci, the results remain inconclusive. In this study, a genomic convergence approach of GWAS and GWLS for ASD was implemented for the first time in order to identify genomic loci supported by both methods. A database with 32 GWLS and five GWAS for ASD was created. Convergence was quantified as the proportion of significant GWAS markers located within linked regions. Convergence was not found to be significantly higher than expected by chance (z-test = 1,177, P = 0,239). Although convergence is supportive of genuine effects, the lack of agreement between GWLS and GWAS is also indicative that these studies are designed to answer different questions and are not equally well suited for deciphering the genetics of complex traits.

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22. Naigles LR, Yi L, Zhao J. Editorial for the Special Issue – Language and Reading in Autism: Perspectives from Chinese. Read Writ;2023;36(6):1359-1368.

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23. Nimante D, Laganovska E, Osgood R. To tell or not to tell – disclosure of autism in the workplace. Int J Dev Disabil;2023;69(3):414-423.

Autism, sometimes called an ‘invisible disability’, can lead to different difficulties for young adults entering the workplace as well as maintaining the job. One of the questions young adults with autism face: should he/she/they disclose the information about their autism to the employer? This current study aims to fill a gap in research on the young adult population with autism in the workplace, particularly within the Latvian context. Four young adults (aged 18-26) living and working in Latvia, who have identified themselves as having autism, job seekers and employees with strong language and intellectual abilities, and their mothers participated in this study. Qualitative semi-structured interviews were conducted to gather in-depth data from participants; after that, an inductive content analysis was made. The results reveal that young adults do not disclose that they have autism to neither co-workers nor employers, yet at the same time, they are ready to disclose it to close friends outside of the workplace. Four main reasons for not disclosing their status on the autism spectrum emerged. To begin with, young adults did not want to be treated differently; they wanted to be perceived as ‘normal’. Second, they feared social stigma. Third, they did not feel there could be any benefits by disclosing their autism to their employer. Finally, it is much more important to explain to their employer what the often-unique limitations of each specific young person with autism are and how to overcome them than to just inform only of their autistic status.

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24. Panganiban J, Kasari C. Educators apply new teaching strategies despite initial attributions of autistic students’ controllability of their behaviors. Int J Dev Disabil;2023;69(3):379-385.

Autistic children are less likely to be jointly engaged with a play partner than nonautistic children, negatively impacting social communication development. Promoting joint engagement during play can be an important target for educators of autistic students, but educator perceptions of autistic students may affect their interactions with students. This secondary data analysis investigated educator perceptions of the behaviors of their autistic students, their relationship on educator behavior, and their relationship on the implementation of an intervention promoting joint engagement. Participants included 66 autistic preschool students, and twelve educators from six preschools. Schools were randomized to educator training or a waitlist. Before training, educators rated their students’ controllability over autism related behaviors. To observe educator behavior, they were filmed playing for ten minutes with students, before and after receiving training. Ratings of controllability were positively correlated with cognitive scores, and negatively correlated with ADOS (Autism Diagnostic Observation Schedule) comparison scores. Furthermore, educator ratings of controllability predicted joint engagement strategies used by educators during play. Educators tended to use strategies promoting joint engagement for students perceived as more able to control their autism spectrum disorder behavior. Among educators that received JASPER (Joint Attention, Symbolic Play, Engagement, and Regulation) training, ratings of controllability did not predict changes in strategy scores after training. Educators were able to learn and implement new joint engagement strategies despite their initial perceptions.

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25. Pellicano E, Adams D, Crane L, Hollingue C, Allen C, Almendinger K, Botha M, Haar T, Kapp SK, Wheeley E. Letter to the Editor: A possible threat to data integrity for online qualitative autism research. Autism;2023 (May 22):13623613231174543.

Doing research online, via Zoom, Teams, or live chat, is becoming more and more common. It can help researchers to reach more people, including from different parts of the world. It can also make the research more accessible for participants, especially those with different communication preferences. However, online research can have its downsides too. We have recently been involved in three studies in which we had in-depth discussions with autistic people and/or parents of autistic children about various topics. It turns out, though, that some of these participants were not genuine. Instead, we believe they were « scammer participants »: people posing as autistic people or parents of autistic children, possibly to gain money from doing the research. This is a real problem because we need research data that we can trust. In this letter, we encourage autism researchers to be wary of scammer participants in their own research.

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26. Raju S, Hepsibah PEV, Niharika MK. Quality of life in parents of children with Autism spectrum disorder: Emphasizing challenges in the Indian context. Int J Dev Disabil;2023;69(3):371-378.

Purpose: Research has raised concerns about the quality of life (QOL) of parents of children with Autism spectrum disorder (ASD). Parents in different cultures show different psychological functioning when caring for a child with ASD. Hence, we examined QOL in parents of children with ASD in India and its relationship with socio-demographic factors. Materials and methods: We used a self-reported questionnaire and WHOQOL-BREF instrument to collect data on socio-demographic details and QOL respectively. Data were collected from two groups of participants – parents of children with ASD and parents of typically developing children (N = 60). Results: Results revealed significant differences in QOL between the two groups. Further, we found a positive correlation between socio-demographic variables and QOL in parents of children with ASD. Conclusions: Findings emphasize the need for intervention approaches aimed at family functioning, improving support services, and assisting parents to develop healthy coping strategies.

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27. Sinclair JMA, Aslan B, Agabio R, Anilkumar A, Brosnan M, Day E, Dowling NA, Flood C, Grant JE, Halliday R, Hofvander B, Howes L, Moseley R, Myers B, O’Connor V, Shaya G, Thomas S, Robinson J, Chamberlain SR. Identifying the most important research, policy and practice questions for substance use, problematic alcohol use and behavioural addictions in autism (SABA-A): A priority setting partnership. Compr Psychiatry;2023 (May 15);124:152393.

BACKGROUND: Autistic people are more likely to report problematic alcohol and other substance use when compared to the general population. Evidence suggests that up to one in three autistic adults may have an alcohol or other substance use disorder (AUD/SUD), although the evidence base for behavioural addictions is less clear. Autistic people may use substances or engage in potentially addictive behaviours as a means of coping with social anxiety, challenging life problems, or camouflaging in social contexts. Despite the prevalence and detrimental effects of AUD, SUD and behavioural addictions in community samples, literature focusing on the intersection between autism and these conditions is scarce, hindering health policy, research, and clinical practice. METHODS: We aimed to identify the top 10 priorities to build the evidence for research, policy, and clinical practice at this intersection. A priority-setting partnership was used to address this aim, comprising an international steering committee and stakeholders from various backgrounds, including people with declared lived experience of autism and/or addiction. First, an online survey was used to identify what people considered key questions about Substance use, alcohol use, or behavioural addictions in autistic people (SABA-A). These initial questions were reviewed and amended by stakeholders, and then classified and refined to form the final list of top priorities via an online consensus process. OUTCOMES: The top ten priorities were identified: three research, three policy, and four practice questions. Future research suggestions are discussed.

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28. So WC, Law WW, Cheng CH, Lee C, Ng KC, Kwok FY, Lam HW, Lam KY. Comparing the effectiveness of robot-based to human-based intervention in improving joint attention in autistic children. Front Psychiatry;2023;14:1114907.

BACKGROUND: Children with autism have impairments in initiation of joint attention (IJA) and response to joint attention (RJA). AIMS: The present study compared the learning effectiveness of robot-based intervention (RBI) with that of content-matched human-based intervention (HBI) in improving joint attention (JA). We examined whether RBI would enhance RJA, in comparison to HBI. We also examined whether RBI would increase IJA, in comparison to HBI. METHODS AND PROCEDURES: Thirty-eight Chinese-speaking children with autism aged 6 to 9 years were randomly assigned to RBI and HBI groups. Before intervention, their autism severity, cognitive abilities, and language skills were assessed. Each child received six 30-min training sessions over 3 weeks. During training, he/she watched one or two robot/human dramas twice where two robot/human actors demonstrated eye contact and RJA. OUTCOMES AND RESULTS: Children in the RBI (but not HBI) group produced more RJA and IJA behaviors in the delayed post-test than in the pre-test. Parents of the RBI children rated the program more positively than those of the HBI children. CONCLUSIONS AND IMPLICATIONS: RBI may be more effective than HBI in promoting JA in autistic children with high support needs. Our findings shed light on the application of robot dramas in enhancing social communication skills.

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29. Syriopoulou-Delli CK. Quality of life in people with intellectual and developmental disability, autism: advances in practice and research. Int J Dev Disabil;2023;69(3):359-361.

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30. Tang Y, Li X, Wu W, Shi Z, Chen W, Tian Y. [Clinical and genetic analysis of a child with Mental retardation autosomal dominant 51]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi;2023 (Jun 10);40(6):696-700.

OBJECTIVE: To explore the clinical characteristics and genetic basis of a child with Mental retardation autosomal dominant 51 (MRD51). METHODS: A child with MRD51 who was hospitalized at Guangzhou Women and Children’s Medical Center on March 4, 2022 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and her parents were collected and subjected to whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing and bioinformatic analysis. RESULTS: The child, a 5-year-and-3-month-old girl, had manifested autism spectrum disorder (ASD), mental retardation (MR), recurrent febrile convulsions and facial dysmorphism. WES revealed that she has harbored a novel heterozygous variant of c.142G>T (p.Glu48Ter) in the KMT5B gene. Sanger sequencing confirmed that neither of her parents has carried the same variant. The variant has not been recorded in the ClinVar, OMIM and HGMD, ESP, ExAC and 1000 Genomes databases. Analysis with online software including Mutation Taster, GERP++ and CADD indicated it to be pathogenic. Prediction with SWISS-MODEL online software suggested that the variant may have a significant impact on the structure of KMT5B protein. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted to be pathogenic. CONCLUSION: The c.142G>T (p.Glu48Ter) variant of the KMT5B gene probably underlay the MRD51 in this child. Above finding has expanded the spectrum of KMT5B gene mutations and provided a reference for clinical diagnosis and genetic counseling for this family.

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31. Tasnim A, Alkislar I, Hakim R, Turecek J, Abdelaziz A, Orefice LL, Ginty DD. The developmental timing of spinal touch processing alterations and its relation to ASD-associated behaviors in mouse models. bioRxiv;2023 (May 9)

Altered somatosensory reactivity is frequently observed among individuals with autism spectrum disorders (ASDs). Here, we report that while multiple mouse models of ASD exhibit aberrant somatosensory behaviors in adulthood, some models exhibit altered tactile reactivity as early as embryonic development, while in others, altered reactivity emerges later in life. Additionally, tactile over-reactivity during neonatal development is associated with anxiety-like behaviors and social interaction deficits in adulthood, whereas tactile over-reactivity that emerges later in life is not. The locus of circuit disruption dictates the timing of aberrant tactile behaviors: altered feedback or presynaptic inhibition of peripheral mechanosensory neurons leads to abnormal tactile reactivity during neonatal development, while disruptions in feedforward inhibition in the spinal cord lead to touch reactivity alterations that manifest later in life. Thus, the developmental timing of aberrant touch processing can predict the manifestation of ASD-associated behaviors in mouse models, and differential timing of sensory disturbance onset may contribute to phenotypic diversity across individuals with ASD.

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32. Tripathi MK, Ojha SK, Kartawy M, Hamoudi W, Choudhary A, Stern S, Aran A, Amal H. The NO Answer for Autism Spectrum Disorder. Adv Sci (Weinh);2023 (May 22):e2205783.

Autism spectrum disorders (ASDs) include a wide range of neurodevelopmental disorders. Several reports showed that mutations in different high-risk ASD genes lead to ASD. However, the underlying molecular mechanisms have not been deciphered. Recently, they reported a dramatic increase in nitric oxide (NO) levels in ASD mouse models. Here, they conducted a multidisciplinary study to investigate the role of NO in ASD. High levels of nitrosative stress biomarkers are found in both the Shank3 and Cntnap2 ASD mouse models. Pharmacological intervention with a neuronal NO synthase (nNOS) inhibitor in both models led to a reversal of the molecular, synaptic, and behavioral ASD-associated phenotypes. Importantly, treating iPSC-derived cortical neurons from patients with SHANK3 mutation with the nNOS inhibitor showed similar therapeutic effects. Clinically, they found a significant increase in nitrosative stress biomarkers in the plasma of low-functioning ASD patients. Bioinformatics of the SNO-proteome revealed that the complement system is enriched in ASD. This novel work reveals, for the first time, that NO plays a significant role in ASD. Their important findings will open novel directions to examine NO in diverse mutations on the spectrum as well as in other neurodevelopmental disorders. Finally, it suggests a novel strategy for effectively treating ASD.

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33. Wei R, Yehia L, Ni Y, Eng C. The mitochondrial genome as a modifier of autism versus cancer phenotypes in PTEN hamartoma tumor syndrome. HGG Adv;2023 (Jul 13);4(3):100199.

Cancer and autism spectrum disorder/developmental delay (ASD/DD) are two common clinical phenotypes in individuals with germline PTEN variants (PTEN hamartoma tumor syndrome, PHTS). Burgeoning studies have shown that genomic and metabolomic factors may act as modifiers of ASD/DD versus cancer in PHTS. Recently, we showed copy number variations to be associated with ASD/DD versus cancer in these PHTS individuals. We also found that mitochondrial complex II variants occurring in 10% of PHTS individuals modify breast cancer risk and thyroid cancer histology. These studies suggest that mitochondrial pathways could act as important factors in PHTS phenotype development. However, the mitochondrial genome (mtDNA) has never been systematically studied in PHTS. We therefore investigated the mtDNA landscape extracted from whole-genome sequencing data from 498 PHTS individuals, including 164 with ASD/DD (PHTS-onlyASD/DD), 184 with cancer (PHTS-onlyCancer), 132 with neither ASD/DD nor cancer (PHTS-neither), and 18 with both ASD/DD and cancer (PHTS-ASDCancer). We demonstrate that PHTS-onlyASD/DD has significantly higher mtDNA copy number than PHTS-onlyCancer group (p = 9.2 × 10(-3) in all samples; p = 4.2 × 10(-3) in the H haplogroup). PHTS-neither group has significantly higher mtDNA variant burden than PHTS-ASDCancer group (p = 4.6 × 10(-2)); the PHTS-noCancer group (PHTS-onlyASD/DD and PHTS-neither groups) also shows higher variant burden than the PHTS-Cancer group (PHTS-onlyCancer and PHTS-ASD/Cancer groups; p = 3.3 × 10(-2)). Our study implicates the mtDNA as a modifier of ASD/DD versus cancer phenotype development in PHTS.

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34. Xin J, Huang K, Yi A, Feng Z, Liu H, Liu X, Liang L, Huang Q, Xiao Y. Absence of associations with prefrontal cortex and cerebellum may link to early language and social deficits in preschool children with ASD. Front Psychiatry;2023;14:1144993.

INTRODUCTION: Autism spectrum disorder (ASD) is a complex developmental disorder, characterized by language and social deficits that begin to appear in the first years of life. Research in preschool children with ASD has consistently reported increased global brain volume and abnormal cortical patterns, and the brain structure abnormalities have also been found to be clinically and behaviorally relevant. However, little is known regarding the associations between brain structure abnormalities and early language and social deficits in preschool children with ASD. METHODS: In this study, we collected magnetic resonance imaging (MRI) data from a cohort of Chinese preschool children with and without ASD (24 ASD/20 non-ASD) aged 12-52 months, explored group differences in brain gray matter (GM) volume, and examined associations between regional GM volume and early language and social abilities in these two groups, separately. RESULTS: We observed significantly greater global GM volume in children with ASD as compared to those without ASD, but there were no regional GM volume differences between these two groups. For children without ASD, GM volume in bilateral prefrontal cortex and cerebellum was significantly correlated with language scores; GM volume in bilateral prefrontal cortex was significantly correlated with social scores. No significant correlations were found in children with ASD. DISCUSSION: Our data demonstrate correlations of regional GM volume with early language and social abilities in preschool children without ASD, and the absence of these associations appear to underlie language and social deficits in children with ASD. These findings provide novel evidence for the neuroanatomical basis associated with language and social abilities in preschool children with and without ASD, which promotes a better understanding of early deficits in language and social functions in ASD.

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35. Yin H, Qiu Z, Li T, Chen Y, Xia J, Huang G, Xu W, Xie J. [Analysis of NSD1 gene variant in a child with autism spectrum disorder in conjunct with congenital heart disease]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi;2023 (Jun 10);40(6):701-705.

OBJECTIVE: To explore the clinical characteristics and genetic basis of a child with autism spectrum disorder (ASD) in conjunct with congenital heart disease (CHD). METHODS: A child who was hospitalized at the Third People’s Hospital of Chengdu on April 13, 2021 was selected as the study subject. Clinical data of the child were collected. Peripheral blood samples of the child and his parents were collected and subjected to whole exome sequencing (WES). A GTX genetic analysis system was used to analyze the WES data and screen candidate variants for ASD. Candidate variant was verified by Sanger sequencing and bioinformatics analysis. Real-time fluorescent quantitative PCR (qPCR) was carried out to compare the expression of mRNA of the NSD1 gene between this child and 3 healthy controls and 5 other children with ASD. RESULTS: The patient, an 8-year-old male, has manifested with ASD, mental retardation and CHD. WES analysis revealed that he has harbored a heterozygous c.3385+2T>C variant in the NSD1 gene, which may affect the function of its protein product. Sanger sequencing showed that neither of his parent has carried the same variant. By bioinformatic analysis, the variant has not been recorded in the ESP, 1000 Genomes and ExAC databases. Analysis with Mutation Taster online software indicated it to be disease causing. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted to be pathogenic. By qPCR analysis, the expression level of mRNA of the NSD1 gene in this child and 5 other children with ASD was significantly lower than that of the healthy controls (P < 0.001). CONCLUSION: The c.3385+2T>C variant of the NSD1 gene can significantly reduce its expression, which may predispose to ASD. Above finding has enriched the mutational spectrum the NSD1 gene.

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