1. Alsyouf M, Daneshmand S. Re: Detection rate of CIS during TURBT following shift from PDD to NBI in a single University Hospital. Urology. 2022.

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2. Borilli MC, Germano CMR, de Avó L, Pilotto RF, Melo DG. Family quality of life among families who have children with mild intellectual disability associated with mild autism spectrum disorder. Arquivos de neuro-psiquiatria. 2022.

BACKGROUND: Intellectual disability (ID) and autism spectrum disorder (ASD) are often concomitant childhood developmental disorders. These disorders can alter family quality of life (FQoL). OBJECTIVE: To investigate FQoL among families who have children with mild ID, associated with mild ASD. METHODS: Cross-sectional descriptive study with 69 families who have children with mild ID and ASD, ranging from six to 16 years old, and who were provided with disability-related services in Brazil. Data were collected using a family sociodemographic questionnaire, an ID and ASD personal profile form, the Barthel index for activities of daily living and the Beach Center FQoL scale. RESULTS: People with ID and ASD had an average score of 88.2±11.5 in the Barthel index, thus indicating moderate dependency in basic activities of daily living. The average total FQoL score (3.56±0.34) was lower than the scores for the « family interaction » (3.91±0.42; p<0.001), "parenting" (3.79±0.35; p<0.001) and "disability-related support" (3.98±0.16; p<0.001) domains; and higher than the scores for the "physical/material well-being" (3.19±0.64; p<0.001) and "emotional wellbeing" (2.75±0.62; p<0.001) domains. Parents' marital condition, monthly family income, family religious practice and effective communication skills among the people with ID and ASD were predictors for FQoL (R2=0.407; p<0.001). CONCLUSIONS: FQoL was sustained through factors such as family interaction and parents' care for their children. Improving families' emotional wellbeing and physical and material conditions is likely to positively affect the FQoL of these families.

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3. Caubit X, Gubellini P, Roubertoux PL, Carlier M, Molitor J, Chabbert D, Metwaly M, Salin P, Fatmi A, Belaidouni Y, Brosse L, Kerkerian-Le Goff L, Fasano L. Targeted Tshz3 deletion in corticostriatal circuit components segregates core autistic behaviors. Translational psychiatry. 2022; 12(1): 106.

We previously linked TSHZ3 haploinsufficiency to autism spectrum disorder (ASD) and showed that embryonic or postnatal Tshz3 deletion in mice results in behavioral traits relevant to the two core domains of ASD, namely social interaction deficits and repetitive behaviors. Here, we provide evidence that cortical projection neurons (CPNs) and striatal cholinergic interneurons (SCINs) are two main and complementary players in the TSHZ3-linked ASD syndrome. In the cerebral cortex, TSHZ3 is expressed in CPNs and in a proportion of GABAergic interneurons, but not in cholinergic interneurons or glial cells. In the striatum, TSHZ3 is expressed in all SCINs, while its expression is absent or partial in the other main brain cholinergic systems. We then characterized two new conditional knockout (cKO) models generated by crossing Tshz3(flox/flox) with Emx1-Cre (Emx1-cKO) or Chat-Cre (Chat-cKO) mice to decipher the respective role of CPNs and SCINs. Emx1-cKO mice show altered excitatory synaptic transmission onto CPNs and impaired plasticity at corticostriatal synapses, with neither cortical neuron loss nor abnormal layer distribution. These animals present social interaction deficits but no repetitive patterns of behavior. Chat-cKO mice exhibit no loss of SCINs but changes in the electrophysiological properties of these interneurons, associated with repetitive patterns of behavior without social interaction deficits. Therefore, dysfunction in either CPNs or SCINs segregates with a distinct ASD behavioral trait. These findings provide novel insights onto the implication of the corticostriatal circuitry in ASD by revealing an unexpected neuronal dichotomy in the biological background of the two core behavioral domains of this disorder.

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4. Davidson M, Sebastian SA, Benitez Y, Desai S, Quinonez J, Ruxmohan S, Stein JD, Cueva W. Behavioral Problems in Fragile X Syndrome: A Review of Clinical Management. Cureus. 2022; 14(2): e21840.

Fragile X syndrome (FXS) is noted to be the leading cause of inherited intellectual disabilities and is caused by expansive cytosine-guanine-guanine (CGG) trinucleotide repeats in the fragile X mental retardation 1 gene (FMR1). FXS can display a wide range of behavioral problems in addition to intellectual and developmental issues. Management of these problems includes both pharmacological and non-pharmacological options and research on these different management styles has been extensive in recent years. This narrative review aimed to collate recent evidence on the various management options of behavioral problems in FXS, including the pharmacological and non-pharmacological treatments, and also to provide a review of the newer avenues in the FXS treatment.

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5. Georgoula C, Ferrin M, Pietraszczyk-Kedziora B, Hervas A, Marret S, Oliveira G, Rosier A, Crutel V, Besse E, Severo CA, Ravel D, Fuentes J. A Phase III Study of Bumetanide Oral Liquid Formulation for the Treatment of Children and Adolescents Aged Between 7 and 17 Years with Autism Spectrum Disorder (SIGN 1 Trial): Participant Baseline Characteristics. Child psychiatry and human development. 2022.

The efficacy of bumetanide (oral liquid formulation 0.5 mg bid) as a treatment for the core symptoms of autism spectrum disorders in children and adolescents aged 7-17 years is being investigated in an international, randomised, double-blind, placebo-controlled phase III study. The primary endpoint is the change in Childhood Autism Rating Scale 2 (CARS2) total raw score after 6 months of treatment. At baseline, the 211 participants analysed are broadly representative of autistic subjects in this age range: mean (SD) age, 10.4 (3.0) years; 82.5% male; 47.7% with intelligence quotient ≥ 70. Mean CARS2 score was 40.1 (4.9) and mean Social Responsiveness Scale score was 116.7 (23.4). Final study results will provide data on efficacy and safety of bumetanide in autistic children and adolescents.

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6. Heck DH, Correia BL, Fox MB, Liu Y, Allen M, Varga S. Recent insights into respiratory modulation of brain activity offer new perspectives on cognition and emotion. Biological psychology. 2022; 170: 108316.

Over the past six years, a rapidly growing number of studies have shown that respiration exerts a significant influence on sensory, affective, and cognitive processes. At the same time, an increasing amount of experimental evidence indicates that this influence occurs via modulation of neural oscillations and their synchronization between brain areas. In this article, we review the relevant findings and discuss whether they might inform our understanding of a variety of disorders that have been associated with abnormal patterns of respiration. We review literature on the role of respiration in chronic obstructive pulmonary disease (COPD), anxiety (panic attacks), and autism spectrum disorder (ASD), and we conclude that the new insights into respiratory modulation of neuronal activity may help understand the relationship between respiratory abnormalities and cognitive and affective deficits.

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7. Kawada T. Plasma levels of alpha and gamma Synucleins in children with autism spectrum disorder: a statistical validity. Medical principles and practice : international journal of the Kuwait University, Health Science Centre. 2022.

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8. Kumarasegaram V, Drejer D, Jensen JB. Reply to « Letter to the Editor »: Detection rate of CIS during TURBT following shift from PDD to NBI in a single University Hospital. Urology. 2022.

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9. Lu HH, Chen DR, Chou AK. The school environment and bullying victimization among seventh graders with autism spectrum disorder: a cohort study. Child and adolescent psychiatry and mental health. 2022; 16(1): 22.

BACKGROUND: There is strong evidence to support the association between bullying and the onset of mental health conditions in students with ASD (autism spectrum disorder). In Taiwan, the seventh grade marks the first year of middle school, following elementary school. This period is also when peers tend to perform bullying behaviours to establish status among the peer group. Therefore, seventh grade is considered one of the most challenging times for students with ASD due to several changes within the school environment and the developmental changes that arise at this age. This study aims to assess the association between the school environment and bullying victimization among students with autism spectrum disorder (ASD) enrolled in regular classes in their first year of middle school. METHODS: Data were obtained from the Special Needs Education Longitudinal Study database located in the Survey Research Data Archive of Academia Sinica. The analysis included one hundred eighty-four seventh graders with ASD who were in regular classes across Taiwan. The primary variables under study were whether the participants had experienced social exclusion, insults or teasing, extortion, or sexual harassment over the past semester. RESULTS: Participants with a higher positive friendship quality (P = 0.027) and who had received more peer support upon encountering difficulties in school (P = 0.041) were less likely to experience social exclusion. Participants with a higher positive friendship quality (P = 0.001) and a more positive classroom learning environment (P = 0.031) were less likely to have experienced insults or teasing. However, participants with more friends were more likely to be extorted (P = 0.015) and sexually harassed (P = 0.001) than those with fewer friends. Furthermore, participants in regular classes on a part-time basis were 2.59 times more likely to report sexual harassment than those in regular classes on a full-time basis (P = 0.021). CONCLUSIONS: This study suggests that a supportive school environment reduces the likelihood that seventh-graders with ASD will be bullied. Clinicians should consider the association between the school environment and bullying victimization among adolescents with ASD in regular classes during their first year of middle school.

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10. Marcogliese PC, Deal SL, Andrews J, Harnish JM, Bhavana VH, Graves HK, Jangam S, Luo X, Liu N, Bei D, Chao YH, Hull B, Lee PT, Pan H, Bhadane P, Huang MC, Longley CM, Chao HT, Chung HL, Haelterman NA, Kanca O, Manivannan SN, Rossetti LZ, German RJ, Gerard A, Schwaibold EMC, Fehr S, Guerrini R, Vetro A, England E, Murali CN, Barakat TS, van Dooren MF, Wilke M, van Slegtenhorst M, Lesca G, Sabatier I, Chatron N, Brownstein CA, Madden JA, Agrawal PB, Keren B, Courtin T, Perrin L, Brugger M, Roser T, Leiz S, Mau-Them FT, Delanne J, Sukarova-Angelovska E, Trajkova S, Rosenhahn E, Strehlow V, Platzer K, Keller R, Pavinato L, Brusco A, Rosenfeld JA, Marom R, Wangler MF, Yamamoto S. Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases. Cell reports. 2022; 38(11): 110517.

Individuals with autism spectrum disorder (ASD) exhibit an increased burden of de novo mutations (DNMs) in a broadening range of genes. While these studies have implicated hundreds of genes in ASD pathogenesis, which DNMs cause functional consequences in vivo remains unclear. We functionally test the effects of ASD missense DNMs using Drosophila through « humanization » rescue and overexpression-based strategies. We examine 79 ASD variants in 74 genes identified in the Simons Simplex Collection and find 38% of them to cause functional alterations. Moreover, we identify GLRA2 as the cause of a spectrum of neurodevelopmental phenotypes beyond ASD in 13 previously undiagnosed subjects. Functional characterization of variants in ASD candidate genes points to conserved neurobiological mechanisms and facilitates gene discovery for rare neurodevelopmental diseases.

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11. Rubin R. Functional Brain Organization Differences Found Between Boys and Girls With Autism Spectrum Disorder. Jama. 2022; 327(13): 1216-7.

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12. Sobieski M, Sobieska A, Sekułowicz M, Bujnowska-Fedak MM. Tools for early screening of autism spectrum disorders in primary health care – a scoping review. BMC primary care. 2022; 23(1): 46.

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder that manifests itself in early childhood. Early diagnosis of these disorders allows for the initiation of early therapy, which is crucial for the child’s further functioning in society. OBJECTIVES: This review aims to gather and present the existing ASD screening tools that can be used in primary care and adapted to different countries conditions linguistically and culturally. ELIGIBILITY CRITERIA: We searched for English-language publications on ASD screening tools for children aged 0-3 years suitable for use in primary care (i.e. free, requiring no additional training or qualifications). SOURCES OF EVIDENCE: Four databases were explored to find English studies on ASD screening tools intended for the rapid assessment of children aged 0-3. CHARTING METHODS: The information sought (specific features of the questionnaires relevant to primary health care workers, psychometric and diagnostic values of a given cultural adaptation of screening tools, and the linguistic and cultural changes made) were extracted and collected to create profiles of these tools. RESULTS: We found 81 studies which met inclusion criteria and underwent full data extraction. Three additional data sources were included. These allowed to create 75 profiles of adaptations for 26 different screening tools and collect data on their psychometric values and characteristic features. CONCLUSIONS: The results of our study indicate the availability of several diagnostic tools for early ASD screening in primary care setting concordant culturally and linguistically with a given population. They could be an effective method of accelerating the diagnostic process and starting personalized therapy faster. However, most tools have significant limitations – some are only available for research purposes, while others do not have scientific evidence to prove their effectiveness.

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13. Wei Y, Duan S, Gong F, Li Q. The RNA-binding protein fragile-X mental retardation autosomal 1 (FXR1) modulates glioma cells sensitivity to temozolomide by regulating ferroptosis. Biochemical and biophysical research communications. 2022; 603: 153-9.

Temozolomide (TMZ) is a first-line chemotherapeutic agent for the treatment of glioma. However, at least 50% of glioma patients do not respond to TMZ, and the exact mechanism leading to TMZ resistance is still unclear. In the present study, we investigated molecular mechanisms underlying the resistance to TMZ in glioma cells. Glioma cell lines A172 and U251 were maintained in medium with increasing doses of TMZ for 12 months to induce the TMZ-resistance. Cells were then transduced with different adenoviral vectors to overexpress or inhibit RNA-binding protein fragile-X mental retardation autosomal 1 (FXR1) and glutathione peroxidase 4 (GPX4), which has been associated with the ferroptosis mechanism. Cell viability and cell death were analysed using cell counting Kit-8 (CCK-8) and Annexin V-FITC staining, respectively. RT-PCR, RNA-seq analysis, and RNA immunoprecipitation were used to analyse RNA expression; Western blot was used for protein expression. We discovered that RNA-binding protein fragile-X mental retardation autosomal 1 (FXR1) was upregulated in TMZ-resistance glioma. Knockdown of FXR1 could overcome TMZ-resistance by promoting ferroptosis. Mechanically, FXR1 could bind with GPX4 mRNA and positively regulate the expression of GPX4. Inhibition of GPX4 further increased the sensitivity to TMZ in glioma cells with upregulated FXR1. Our data suggest that targeting FXR1-GPX4 might be a potential strategy to overcome chemoresistance to TMZ in glioma cells.

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14. Whelpley CE, May CP. Seeing is Disliking: Evidence of Bias Against Individuals with Autism Spectrum Disorder in Traditional Job Interviews. Journal of autism and developmental disorders. 2022.

Job interviews are an integral component of the hiring process in most fields. Our research examines job interview performance of those with autism spectrum disorder (ASD) compared to neurotypical (NT) individuals. ASD and NT individuals were taped engaging in mock job interviews. Candidates were rated on a variety of dimensions by respondents who either watched the interview videos or read the interview transcripts and were naïve to the neurodiversity of the interviewees. NT candidates outperformed ASD candidates in the video condition, but in the absence of visual and social cues (transcript condition), individuals with ASD outperformed NT candidates. Our findings suggest that social style significantly influences hiring decisions in traditional job interviews and may bias evaluators against otherwise qualified candidates.

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15. Yu H, Cao R, Lin C, Wang S. Distinct neurocognitive bases for social trait judgments of faces in autism spectrum disorder. Translational psychiatry. 2022; 12(1): 104.

Autism spectrum disorder (ASD) is characterized by difficulties in social processes, interactions, and communication. Yet, the neurocognitive bases underlying these difficulties are unclear. Here, we triangulated the ‘trans-diagnostic’ approach to personality, social trait judgments of faces, and neurophysiology to investigate (1) the relative position of autistic traits in a comprehensive social-affective personality space, and (2) the distinct associations between the social-affective personality dimensions and social trait judgment from faces in individuals with ASD and neurotypical individuals. We collected personality and facial judgment data from a large sample of online participants (N = 89 self-identified ASD; N = 307 neurotypical controls). Factor analysis with 33 subscales of 10 social-affective personality questionnaires identified a 4-dimensional personality space. This analysis revealed that ASD and control participants did not differ significantly along the personality dimensions of empathy and prosociality, antisociality, or social agreeableness. However, the ASD participants exhibited a weaker association between prosocial personality dimensions and judgments of facial trustworthiness and warmth than the control participants. Neurophysiological data also indicated that ASD participants had a weaker association with neuronal representations for trustworthiness and warmth from faces. These results suggest that the atypical association between social-affective personality and social trait judgment from faces may contribute to the social and affective difficulties associated with ASD.

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