1. Correction to « Well-being spectrum traits are associated with polygenic scores for autism ». Autism Res;2024 (Jan);17(1):195.

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2. Al-Radadi NS, Al-Bishri WM, Salem NA, ElShebiney SA. Plant-mediated green synthesis of gold nanoparticles using an aqueous extract of Passiflora ligularis, optimization, characterizations, and their neuroprotective effect on propionic acid-induced autism in Wistar rats. Saudi Pharm J;2024 (Feb);32(2):101921.

The current study was conducted to examine an innovative method for synthesizing gold nanoparticles (AuNPs) from an aqueous sweet granadilla (Passiflora ligularis Juss) P. ligularis. Furthermore, the synthesized AuNPs were used to explore their potential neuroprotective impact against propionic acid (PPA)-induced autism. A sweet granadilla extract was used to achieve the synthesis of AuNPs. The structural and dimensional dispersion of AuNPs were confirmed by different techniques, including UV-Vis spectrophotometer (UV-Vis), X-ray Diffraction (XRD) Pattern, Energy Dispersive X-ray (EDX), Zeta potential, and High-Resolution Transmission Electron Microscopy (HRTEM) analysis. The AuNPs mediated by P. ligularis adopt a spherical shape morphology and the particle size was distributed in the range of 8.43-13 nm without aggregation. Moreover, in vivo, the anti-autistic effects of AuNPs administration were higher than those of P. ligularis extract per second. In addition, the reduced anxiety and neurobehavioral deficits of AuNPs were observed in autistic rats which halted the brain oxidative stress, reduced inflammatory cytokines, ameliorated neurotransmitters, and neurochemical release, and suppressed apoptotic genes (p < 0.05). The alleviated antiapoptotic gene expression and histopathological analysis confirmed that the treatment of AuNPs showed significant neural pathways that aid in reducing tissue damage and necrosis. The results emphasize that the biomedical activity was increased by using the green source synthesis P. ligularis -AuNPs. Additionally, the formulation of AuNPs demonstrates strong neuroprotective effects against PPA-induced autism that were arbitrated by a range of different mechanisms, such as anti-inflammatory, antioxidant, neuromodulator, and antiapoptotic effects.

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3. Bendo GJ, Sturrock A, Hanks G, Plack CJ, Gowen E, Guest H. The diversity of speech-perception difficulties among autistic individuals. Autism Dev Lang Impair;2024 (Jan-Dec);9:23969415241227074.

BACKGROUND & AIMS: Communicative and sensory differences are core autistic traits, yet speech-perception abilities and difficulties among autistic individuals remain poorly understood. Laboratory studies have produced mixed and inconclusive results, in part because of the lack of input from autistic individuals in defining the hypotheses and shaping the methods used in this field of research. Little in-depth qualitative research on autistic experiences of speech perception has been published, yet such research could form the basis for better laboratory research, for improved understanding of autistic experiences, and for the development of interventions. Existing qualitative research describes widespread autistic listening differences with significant impacts, but these results rely on data gathered via oral interviews in a small sample. The present study addresses these limitations and employs a mixed-methods approach to explore autistic listening experiences. METHODS: We gathered survey data from 79 autistic individuals aged 18-55 without diagnosed hearing loss. The questionnaire included 20 closed-set questions on listening abilities and difficulties and three free-text questions on listening experiences. The free-text questions underwent deductive content analysis using a framework composed of themes from previous interview data on listening experiences (including auditory differences, contributing factors, impacts, and coping strategies). Concepts in the free-text data that were not part of the analysis framework were analyzed inductively. RESULTS: In the closed-set data, participants reported listening difficulties in most specified environments, but complex background sounds and particularly background voices caused the most difficulty. Those who reported listening difficulties expressed having substantially greater difficulties than other people the same age. Participants indicated multiple impacts from listening difficulties, most prominently in their social lives. Concepts in the free-text data strongly supported previous interview data on listening differences and factors that affect listening ability, especially the diversity of types of listening difficulties. Consistent with the closed-set data, background-sound complexity and concurrent voices were especially troubling. Some concepts in the free-text data were novel, particularly difficulties with remote, broadcast, and recorded audio, prompting the creation of new themes. CONCLUSIONS: Both forms of data indicate widespread listening differences-predominantly listening difficulties-affecting most autistic adults. Diverse types of listening difficulty are evident, potentially indicating heterogeneous underlying mechanisms, and complexity of background noise is consistently identified as an important factor. Listening difficulties are said to have substantial and varied impacts. Autistic adults are keen to share coping strategies, which are varied and usually self-devised. IMPLICATIONS: Based on both the quantitative and qualitative results, we provide recommendations to improve future research and support the autistic community. The data-revealing types of listening difficulties can guide better quantitative research into underlying mechanisms. Such research should take into account potential heterogeneity in listening difficulties. Suggestions for optimized collection of self-report data are also offered. Additionally, our results could be used to improve societal understanding of autistic listening differences and to create beneficial interventions for and with autistic individuals. Moreover, given the willingness of the autistic community to share coping strategies, systematic collation of these strategies could form the basis for self-help and clinical guidance.

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4. Bui DT, Ton ANV, Nguyen CTD, Nguyen SH, Tran HK, Nguyen XT, Nguyen HT, Pham GLT, Tran DS, Harrington J, Pham HN, Pham TNV, Cao TA. Pathogenic/likely pathogenic mutations identified in Vietnamese children diagnosed with autism spectrum disorder using high-resolution SNP genotyping platform. Sci Rep;2024 (Jan 29);14(1):2360.

Among the most prevalent neurodevelopmental disorders, Autism Spectrum Disorder (ASD) is highly diverse showing a broad phenotypic spectrum. ASD also couples with a broad range of mutations, both de novo and inherited. In this study, we used a proprietary SNP genotyping chip to analyze the genomic DNA of 250 Vietnamese children diagnosed with ASD. Our Single Nucleotide Polymorphism (SNP) genotyping chip directly targets more than 800 thousand SNPs in the genome. Our primary focus was to identify pathogenic/likely pathogenic mutations that are potentially linked to more severe symptoms of autism. We identified and validated 23 pathogenic/likely pathogenic mutations in this initial study. The data shows that these mutations were detected in several cases spanning multiple biological pathways. Among the confirmed SNPs, mutations were identified in genes previously known to be strongly associated with ASD such as SLCO1B1, ACADSB, TCF4, HCP5, MOCOS, SRD5A2, MCCC2, DCC, and PRKN while several other mutations are known to associate with autistic traits or other neurodevelopmental disorders. Some mutations were found in multiple patients and some patients carried multiple pathogenic/likely pathogenic mutations. These findings contribute to the identification of potential targets for therapeutic solutions in what is considered a genetically heterogeneous neurodevelopmental disorder.

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5. Burke S. Hypoxia, NSAIDs, and autism: A biocultural analysis of stressors in gametogenesis. Am J Hum Biol;2024 (Jan 29):e24042.

Cultural and generational trends have increasingly favored « anti-inflammatory » action, innovating a new class of analgesic, non-steroidal anti-inflammatory drugs (NSAIDs) in the 20th century. The modern human body has been molded over evolutionary time and while acknowledging inflammation can be pathologically entwined, it also serves an important role in healthy folliculogenesis and ovulation, shaping cues that drive needed vascular change. This review argues that because of anti-inflammatory action, the cultural invention of NSAIDs represents a particular stressor on female reproductive-age bodies, interacting with natural, underlying variation and placing limits on healthy growth and development in the follicles, creating potential autism risk through hypoxia and mutagenic or epigenetic effects. Since testes are analogs to ovaries, the biological grounding extends naturally to spermatogenesis. This review suggests the introduction of over-the-counter NSAIDs in the 1980s failed to recognize the unique functioning of reproductive-age bodies, challenging the cyclical inflammation needed for healthy gamete development. NSAIDs are framed as one (notable) stressor in an anti-inflammatory era focused on taming the risks of inflammation in modern human life.

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6. Cano-Villagrasa A, Porcar-Gozalbo N, López-Chicheri García I, López-Zamora M. Case report: Assessment of linguistic, cognitive, and sensory profile competencies in a child with ASD and epilepsy. Front Psychol;2023;14:1307578.

INTRODUCTION: Autism Spectrum Disorder (ASD) and epilepsy pose significant challenges for early diagnosis during childhood. Current scientific literature does not reflect robust action protocols that allow for a detailed screening of difficulties in this population, especially in areas such as language, cognition, and sensory profile. Additionally, detecting epilepsy before the age of 4 is established as a major current public health challenge in our society. OBJECTIVE: The aim was to evaluate a patient exhibiting symptoms compatible with both ASD and epilepsy, determining the linguistic, cognitive, and sensory profile through a clinical assessment protocol. Furthermore, the objective included establishing a diagnosis of ASD. METHOD: This single-case study (N = 1) presents the evaluation of a 7-year-old patient with suspected ASD, experiencing a decline in linguistic and cognitive competencies following a documented epileptic episode. Evaluation was conducted using instruments such as CELF-5, PROLEC-R, WISC-V, ENFEN, PS-2, ADI-R, and ADOS-2. RESULTS: Following assessment of language, cognition, sensory aspects, and behaviors associated with ASD, the diagnosis of ASD was confirmed in the patient, along with impairments in expressive and receptive language, executive functioning, and alterations in the sensory profile. CONCLUSION: Diagnosing ASD and epilepsy, as well as their evaluation, is a complex process requiring interdisciplinary assessment involving a detailed exploration of all functional competencies in individuals with this comorbidity. Future studies should focus on creating and improving existing protocols to develop optimal and effective evaluation strategies for assessing this population during childhood.

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7. Chen B, Olson L, Rios A, Salmina M, Linke A, Fishman I. Reduced covariation between brain morphometry and local spontaneous activity in young children with ASD. Cereb Cortex;2024 (Jan 27)

While disruptions in brain maturation in the first years of life in ASD are well documented, little is known about how the brain structure and function are related in young children with ASD compared to typically developing peers. We applied a multivariate pattern analysis to examine the covariation patterns between brain morphometry and local brain spontaneous activity in 38 toddlers and preschoolers with ASD and 31 typically developing children using T1-weighted structural MRI and resting-state fMRI data acquired during natural sleep. The results revealed significantly reduced brain structure-function correlations in ASD. The resultant brain structure and function composite indices were associated with age among typically developing children, but not among those with ASD, suggesting mistiming of typical brain maturational trajectories early in life in autism. Additionally, the brain function composite indices were associated with the overall developmental and adaptive behavior skills in the ASD group, highlighting the neurodevelopmental significance of early local brain activity in autism.

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8. Cruz S, Zubizarreta SC, Costa AD, Araújo R, Martinho J, Tubío-Fungueiriño M, Sampaio A, Cruz R, Carracedo A, Fernández-Prieto M. Is There a Bias Towards Males in the Diagnosis of Autism? A Systematic Review and Meta-Analysis. Neuropsychol Rev;2024 (Jan 29)

Autism is more frequently diagnosed in males, with evidence suggesting that females are more likely to be misdiagnosed or underdiagnosed. Possibly, the male/female ratio imbalance relates to phenotypic and camouflaging differences between genders. Here, we performed a comprehensive approach to phenotypic and camouflaging research in autism addressed in two studies. First (Study 1 – Phenotypic Differences in Autism), we conducted a systematic review and meta-analysis of gender differences in autism phenotype. The electronic datasets Pubmed, Scopus, Web of Science, and PsychInfo were searched. We included 67 articles that compared females and males in autism core symptoms, and in cognitive, socioemotional, and behavioural phenotypes. Autistic males exhibited more severe symptoms and social interaction difficulties on standard clinical measures than females, who, in turn, exhibited more cognitive and behavioural difficulties. Considering the hypothesis of camouflaging possibly underlying these differences, we then conducted a meta-analysis of gender differences in camouflaging (Study 2 – Camouflaging Differences in Autism). The same datasets as the first study were searched. Ten studies were included. Females used more compensation and masking camouflage strategies than males. The results support the argument of a bias in clinical procedures towards males and the importance of considering a ‘female autism phenotype’-potentially involving camouflaging-in the diagnostic process.

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9. Ding JL, Lv N, Wu YF, Chen IH, Yan WJ. The hidden curves of risk: a nonlinear model of cumulative risk and school bullying victimization among adolescents with autism spectrum disorder. Child Adolesc Psychiatry Ment Health;2024 (Jan 28);18(1):17.

BACKGROUND: School bullying victimization (SBV) occurs more frequently in students with autism spectrum disorder (ASD) in general education than in special classes, and there is a cumulative risk effect on SBV exposure among young people with ASD reported by their parents and teachers. However, SBV is a personal experience, the predictive patterns of cumulative risk on SBV reported by themselves and its psychological mechanism remain unclear. This study aims to explore the relationship between cumulative risk and SBV based on self-report, and to test whether internalizing problems mediates this relationship among adolescents with ASD placed in regular classes. METHODS: This study used data from the Taiwan Special Needs Education Longitudinal Study (SNELS) in 2011. The analysis included 508 adolescents with ASD who were in regular classes across Taiwan. The primary variables under study were the quality of friendship interactions, teacher-student relationship, school connection, perceived stigma, the impact caused by the disabilities, internalizing problem, and whether the participants had experienced SBV over the past semester, while control variables were adaptability and social-emotional skills. Established risk factors were summed to form a cumulative risk score. RESULTS: The cumulative risk was positively associated with SBV. The relationship was characterized by the nonlinear pattern of the quadratic function (negative acceleration model) between cumulative risk and SBV. Internalizing problem played a partial mediating role in the effect of cumulative risk on SBV. CONCLUSIONS: Intervention measures to reduce SBV should include the strategies to reduce the number of risks to which adolescents with ASD in regular classes are exposed, comprehensive prevention targeting each risk factor is needed specially when the number of risks is one or two, and more attention needs to be given to their internalizing problem in various ways.

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10. Dionísio A, Espírito A, Pereira AC, Mouga S, d’Almeida OC, Oliveira G, Castelo-Branco M. Neurochemical differences in core regions of the autistic brain: a multivoxel (1)H-MRS study in children. Sci Rep;2024 (Jan 29);14(1):2374.

Autism spectrum disorder (ASD) is a neurodevelopmental condition which compromises various cognitive and behavioural domains. The understanding of the pathophysiology and molecular neurobiology of ASD is still an open critical research question. Here, we aimed to address ASD neurochemistry in the same time point at key regions that have been associated with its pathophysiology: the insula, hippocampus, putamen and thalamus. We conducted a multivoxel proton magnetic resonance spectroscopy ((1)H-MRS) study to non-invasively estimate the concentrations of total choline (GPC + PCh, tCho), total N-acetyl-aspartate (NAA + NAAG, tNAA) and Glx (Glu + Gln), presenting the results as ratios to total creatine while investigating replication for ratios to total choline as a secondary analysis. Twenty-two male children aged between 10 and 18 years diagnosed with ASD (none with intellectual disability, in spite of the expected lower IQ) and 22 age- and gender-matched typically developing (TD) controls were included. Aspartate ratios were significantly lower in the insula (tNAA/tCr: p = 0.010; tNAA/tCho: p = 0.012) and putamen (tNAA/tCr: p = 0.015) of ASD individuals in comparison with TD controls. The Glx ratios were significantly higher in the hippocampus of the ASD group (Glx/tCr: p = 0.027; Glx/tCho: p = 0.011). Differences in tNAA and Glx indices suggest that these metabolites might be neurochemical markers of region-specific atypical metabolism in ASD children, with a potential contribution for future advances in clinical monitoring and treatment.

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11. Kim SY, Song DY, Bong G, Han JH, Yoo HJ. Descriptive Analysis of Social Interaction and Communication Skills of Autistic Children According to Sibling Status and Characteristics. Psychiatry Investig;2024 (Jan);21(1):44-51.

OBJECTIVE: Sibling relationships in early childhood can have a positive impact on children’s social interaction and communication skills. Similarly, autistic children can benefit from interactions with their siblings, who can serve as readily available partners for social interaction. However, there is a lack of research on the effects of siblings based on specific characteristics of the sibling. Therefore, the aim of this study is to compare social interactions and communication skills of autistic children based on sibling status and characteristics. METHODS: We conducted a retrospective data review involving 895 autistic children and their siblings at Seoul National University Bundang Hospital. Variety of diagnostic assessments or questionnaires were administered. Based on the characteristics of the data, Quade’s test for nonparametric analysis of covariance was used to compare autism-related symptoms and levels of functioning of the autistic child according to 1) sibling status, 2) birth order, 3) sex, and 4) diagnosis of the sibling. Pearson correlation was used to explore associations between the sibling age gap and different clinical scores. RESULTS: Having siblings was associated with fewer difficulties in restricted and repetitive behaviors. Based on the comparison of the Autism Diagnostic Interview-Revised scores, autistic children with multiple siblings demonstrated better nonverbal behaviors. Autistic children with autistic siblings experienced greater difficulties in social interactions and communications, such as peer relationships, sharing enjoyment, and engaging in social imitative play. CONCLUSION: The study revealed differences in social interactions and communication skills of autistic children based on sibling status, birth order, affected sibling, age gap, and sex.

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12. Li J, Kong X, Sun L, Chen X, Ouyang G, Li X, Chen S. Identification of autism spectrum disorder based on electroencephalography: A systematic review. Comput Biol Med;2024 (Jan 29);170:108075.

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by difficulties in social communication and repetitive and stereotyped behaviors. According to the World Health Organization, about 1 in 100 children worldwide has autism. With the global prevalence of ASD, timely and accurate diagnosis has been essential in enhancing the intervention effectiveness for ASD children. Traditional ASD diagnostic methods rely on clinical observations and behavioral assessment, with the disadvantages of time-consuming and lack of objective biological indicators. Therefore, automated diagnostic methods based on machine learning and deep learning technologies have emerged and become significant since they can achieve more objective, efficient, and accurate ASD diagnosis. Electroencephalography (EEG) is an electrophysiological monitoring method that records changes in brain spontaneous potential activity, which is of great significance for identifying ASD children. By analyzing EEG data, it is possible to detect abnormal synchronous neuronal activity of ASD children. This paper gives a comprehensive review of the EEG-based ASD identification using traditional machine learning methods and deep learning approaches, including their merits and potential pitfalls. Additionally, it highlights the challenges and the opportunities ahead in search of more effective and efficient methods to automatically diagnose autism based on EEG signals, which aims to facilitate automated ASD identification.

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13. Lin P, Zhang Q, Sun J, Li Q, Li D, Zhu M, Fu X, Zhao L, Wang M, Lou X, Chen Q, Liang K, Zhu Y, Qu C, Li Z, Ma P, Wang R, Liu H, Dong K, Guo X, Cheng X, Sun Y, Sun J. A comparison between children and adolescents with autism spectrum disorders and healthy controls in biomedical factors, trace elements, and microbiota biomarkers: a meta-analysis. Front Psychiatry;2023;14:1318637.

INTRODUCTION: Autism spectrum disorder (ASD) is a multifaceted developmental condition that commonly appears during early childhood. The etiology of ASD remains multifactorial and not yet fully understood. The identification of biomarkers may provide insights into the underlying mechanisms and pathophysiology of the disorder. The present study aimed to explore the causes of ASD by investigating the key biomedical markers, trace elements, and microbiota factors between children with autism spectrum disorder (ASD) and control subjects. METHODS: Medline, PubMed, ProQuest, EMBASE, Cochrane Library, PsycINFO, Web of Science, and EMBSCO databases have been searched for publications from 2012 to 2023 with no language restrictions using the population, intervention, control, and outcome (PICO) approach. Keywords including « autism spectrum disorder, » « oxytocin, » « GABA, » « Serotonin, » « CRP, » « IL-6, » « Fe, » « Zn, » « Cu, » and « gut microbiota » were used for the search. The Joanna Briggs Institute (JBI) critical appraisal checklist was used to assess the article quality, and a random model was used to assess the mean difference and standardized difference between ASD and the control group in all biomedical markers, trace elements, and microbiota factors. RESULTS: From 76,217 records, 43 studies met the inclusion and exclusion criteria and were included in this meta-analysis. The pooled analyses showed that children with ASD had significantly lower levels of oxytocin (mean differences, MD = -45.691, 95% confidence interval, CI: -61.667, -29.717), iron (MD = -3.203, 95% CI: -4.891, -1.514), and zinc (MD = -6.707, 95% CI: -12.691, -0.722), lower relative abundance of Bifidobacterium (MD = -1.321, 95% CI: -2.403, -0.238) and Parabacteroides (MD = -0.081, 95% CI: -0.148, -0.013), higher levels of c-reactive protein, CRP (MD = 0.401, 95% CI: 0.036, 0.772), and GABA (MD = 0.115, 95% CI: 0.045, 0.186), and higher relative abundance of Bacteroides (MD = 1.386, 95% CI: 0.717, 2.055) and Clostridium (MD = 0.281, 95% CI: 0.035, 0.526) when compared with controls. The results of the overall analyses were stable after performing the sensitivity analyses. Additionally, no substantial publication bias was observed among the studies. INTERPRETATION: Children with ASD have significantly higher levels of CRP and GABA, lower levels of oxytocin, iron, and zinc, lower relative abundance of Bifidobacterium and Parabacteroides, and higher relative abundance of Faecalibacterium, Bacteroides, and Clostridium when compared with controls. These results suggest that these indicators may be a potential biomarker panel for the diagnosis or determining therapeutic targets of ASD. Furthermore, large, sample-based, and randomized controlled trials are needed to confirm these results.

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14. Liu Y, Hu J. Effect of Object on Kinesthetic Motor Imagery in Autism Spectrum Disorder: A Pilot Study Based on Eye-Tracking Methodology. Neuropsychiatr Dis Treat;2024;20:167-183.

INTRODUCTION: Social disturbance is a significant autism spectrum disorder (ASD) symptom. Action representation, which is a fundamental component of social interaction, can be investigated through kinesthetic motor imagery (KMI). KMI has been commonly studied with the well-developed laterality judgment paradigm, wherein participants are required to discriminate the laterality of a hand rotated by different angles along one or more axes. Here, we investigated the KMI processing in individuals with ASD by hand laterality judgment paradigm with eye-tracking methodology. METHODS: The current study included 22 participants with ASD and 22 typical developing (TD) peers matched for age, gender, and intelligence. Participants were asked to judge the laterality of hand-with-tooth brush images. RESULTS: Compared to the TD controls, individuals with ASD performed KMI with lower accuracy and longer response time in both correct and incorrect action conditions. The incorrect action representation had greater effect on KMI for individuals with ASD. Differences in eye-movement patterns were also observed, characterized by individuals with ASD were more focused on the object area while TD peers were more focused on the hand area. CONCLUSION: Results suggest that while altered KMI performance was observed, the incorrect action representation elicited more engagement of KMI in both groups. The object-centered eye-movement pattern may contribute to the refine of motor simulation intervention for individuals with ASD.

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15. Mir HA, Liu Q, Rosca O, Blakeslee E. Factors That Influence the Tenure of Direct Support Professionals in New York State Provider Agencies. Intellect Dev Disabil;2024 (Feb 1);62(1):14-26.

The New York State Office for People With Developmental Disabilities seeks to better understand the direct support professional (DSP) workforce and offer data-informed strategies for DSP retention. We used the 2018 NCI-IDD Staff Stability Survey (now called State of the Workforce Survey) to investigate agency-level factors influencing DSP tenure. A total 303 provider agencies completed the survey in New York State, representing 72,252 DSPs. Multiple linear regression analysis revealed that selected agency-level variables explained 12.6% of the variance in DSP tenure, R2 = .16, Radj2 = .126, F (11, 260) = 4.54, p < .05. This study yielded strong empirical evidence consistent with existing national reports and research on the role that wages, benefits, and supervisory support play on DSP tenure.

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16. Mohamed Z, Russell A, Palmer M, Simonoff E, Hollocks MJ. Co-designing behavioural activation for depression for autistic adolescents: A case series. Clin Child Psychol Psychiatry;2024 (Jan 29):13591045241229583.

Autistic youth are at high risk of depression, but there are few psychological interventions that have been specifically designed for use with this population. Behavioural activation (BA) is a particularly promising approach for autistic adolescents, having an established evidence-base for the treatment of depression in non-autistic people, and with a strong focus on behavioural, rather than cognitive change, which is a challenge for some autistic people. In this study, we worked with autistic adolescents and clinicians to co-design a BA-informed intervention to be delivered in an online format. We then conducted a pilot case-series with seven autistic adolescents with depression. Our focus was on establishing the acceptability and feasibility of the intervention but clinical outcomes on both self- and parent-reported symptoms of depression and anxiety are also presented. Our results indicate the intervention to be acceptable and feasible for autistic adolescents, with six out of seven participants being retained to the end of the intervention. Qualitative feedback indicated that all participants found the intervention a positive experience and would recommend it to others. Similarly, all participants found the online format acceptable, with 64% preferring this format to face-to-face therapy. Qualitative feedback and suggestions for refinement will also be discussed. Autistic youth are at high risk of depression, but there are few psychological interventions that have been specifically designed for use with this population. Behavioural activation (BA) is a particularly promising approach for autistic adolescents, which has been used previously with non-autistic people. BA-focusses on improving mood through increasing engagement in positive activities and is well suited to being adapted to meet the needs of autistic youth. In this study, we worked with autistic adolescents and clinicians to co-design a BA-informed intervention to be delivered in an online format. We then conducted a pilot case-series with seven autistic adolescents with depression. Our focus was on establishing the acceptability (can participants complete the intervention) and feasibility (can this be done again on a larger scale) of the intervention. Our results indicated that the intervention was acceptable and feasible for autistic adolescents, with six out of seven participants being retained to the end of the intervention. Feedback from young people and their parents indicated that all participants both found the intervention a positive experience and would recommend it to others. Similarly, all participants found the online format acceptable, with 64% preferring this format to face-to-face therapy. Qualitative feedback and suggestions for refinement will also be discussed. eng

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17. Musetti A, Zagaria A, Pezzi M, Fante C, Dioni B, Raffin C, Manari T, Lenzo V, De Luca Picione R. Parental quality of life, child adjustment and adult attachment in parents of children and adolescents with Autism Spectrum Disorder. Res Dev Disabil;2024 (Jan 27);146:104684.

BACKGROUND: Parents of children and adolescents with Autism Spectrum Disorder (ASD) may experience a lower quality of life (QoL) than parents of offspring with typical development. However, factors associated with parental QoL are not yet fully understood. AIMS: This study aimed to investigate the relationships between parental QoL, child adjustment and adult attachment among parents of children and adolescents with ASD. METHODS AND PROCEDURES: One hundred and eighty-eight parents of children and adolescents diagnosed with ASD completed a group of self-report questionnaires on sociodemographic variables, QoL (i.e., overall QoL and ASD symptoms-related parental QoL), child adjustment (i.e., offspring’s total problems and prosocial behaviors) and adult attachment. OUTCOMES AND RESULTS: Structural equation modeling revealed that the overall parental QoL was negatively related to children’s total problems and positively associated with prosocial behaviors, as well as with higher levels of secure attachment and lower levels of fearful attachment styles. Additionally, ASD symptoms-related parental QoL was negatively associated with the offspring’s total problems. CONCLUSIONS AND IMPLICATIONS: This suggests that child characteristics may interact with parental characteristics to either enhance or compromise the QoL of parents of children and adolescents with ASD. Implications of these findings for promoting parental QoL are discussed.

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18. Nygren MA, Linscott R, Nagel M, Atkins M, Ward J, Alexander J. Developing and Evaluating the Fidelity and Understandability of Plain Language Summaries of Position Statements. Intellect Dev Disabil;2024 (Feb 1);62(1):74-81.

The American Association on Intellectual and Developmental Disabilities (AAIDD) and The Arc of the United States (The Arc) have a long history of taking jointly held positions on matters of public policy that affect people with intellectual and developmental disabilities (IDD). This article describes the methods used to develop and evaluate the understandability and fidelity of written plain language summaries of the organizations’ joint position statements for an audience of people with IDD who read. Implications for adapting source material for nonreading audiences are discussed.

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19. Olcay S, Ogur C, Saral D. Teaching Earthquake Preparedness Skills to Students With Developmental Disabilities: A Preliminary Evaluation. Intellect Dev Disabil;2024 (Feb 1);62(1):59-73.

This study investigated the effects of behavioral skills training (BST) in teaching earthquake preparedness skills to students with developmental disabilities within a small group arrangement. A multiple probe design across behaviors and replicated across participants evaluated the effectiveness of BST when teaching three high school students to prepare an earthquake emergency kit, do drop-cover-hold, and share location through a personal safety app. All students acquired, maintained, and generalized the target behaviors. Participating students and their teachers had positive opinions regarding the target behaviors, procedure, and outcomes. Limitations and implications for future research are discussed.

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20. Orsmond GI, Krishnan SG, Munsell EGS, Cohn ES, Coster WJ. Describing Outcomes in Autistic Young Adults One Year After High School Graduation. J Autism Dev Disord;2024 (Jan 29)

PURPOSE: Research documents poor outcomes for autistic adults in the domains of employment, independent living, and social relationships. Measurement and sample limitations in prior studies may have amplified past estimates of poor outcomes. The goal of the current study was to improve upon past approaches and to create and describe a measurement approach to capture adult outcomes that reflected the context of young adulthood and the perspectives of autistic individuals, pairing objective outcome indicators with subjective satisfaction indicators. METHODS: Thirty-six autistic young adults (mean age 19.8 years) and a parent completed self-report surveys. Using these data, we defined an objective and subjective (i.e., satisfaction) outcome indicator in each of three domains: productivity (employment or post-secondary education), social well-being (frequency of contact with friends), and living situation (autonomy). RESULTS: Three-quarters of young adults experienced at least 5 out of 6 positive outcomes. Over 90% were engaged in school, work, or a structured transition program, and an equal percentage were satisfied with their productivity activity. Over three-quarters of adults had a good amount of contact with friends and were satisfied with their social life. Most young adults had a moderate level of autonomy in their daily lives, and all were satisfied with their living situation. CONCLUSION: Tailoring outcome measurement approaches specifically for autistic young adults provided a more optimistic portrayal of outcomes than previously noted in the literature. The approach used better reflects a neurodiversity approach and may be useful for evaluating the effectiveness of transition services or interventions.

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21. Rodnyy AY, Kondaurova EM, Tsybko AS, Popova NK, Kudlay DA, Naumenko VS. The brain serotonin system in autism. Rev Neurosci;2024 (Jan 29);35(1):1-20.

Autism spectrum disorders (ASDs) are among the most common neurodevelopmental diseases. These disorders are characterized by lack of social interaction, by repetitive behavior, and often anxiety and learning disabilities. The brain serotonin (5-HT) system is known to be crucially implicated in a wide range of physiological functions and in the control of different kinds of normal and pathological behavior. A growing number of studies indicate the involvement of the brain 5-HT system in the mechanisms underlying both ASD development and ASD-related behavioral disorders. There are some review papers describing the role of separate key players of the 5-HT system in an ASD and/or autistic-like behavior. In this review, we summarize existing data on the participation of all members of the brain 5-HT system, namely, 5-HT transporter, tryptophan hydroxylase 2, MAOA, and 5-HT receptors, in autism in human and various animal models. Additionally, we describe the most recent studies involving modern techniques for in vivo regulation of gene expression that are aimed at identifying exact roles of 5-HT receptors, MAOA, and 5-HT transporter in the mechanisms underlying autistic-like behavior. Altogether, results of multiple research articles show that the brain 5-HT system intimately partakes in the control of some types of ASD-related behavior, and that specific changes in a function of a certain 5-HT receptor, transporter, and/or enzyme may normalize this aberrant behavior. These data give hope that some of clinically used 5-HT-related drugs have potential for ASD treatment.

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22. Schall C, Avellone L, Wehman P. Employment Interventions for People With Intellectual and Developmental Disabilities: A Delphi Study of Stakeholder Perspectives. Intellect Dev Disabil;2024 (Feb 1);62(1):27-43.

The purpose of this study was to examine the social validity of five different evidence-based and emerging pathways to employment (i.e., supported employment, customized employment, internships, apprenticeships, and postsecondary education) from the perspective of multiple stakeholders. A Delphi method was used to determine whether stakeholders are in consensus regarding the accessibility, affordability, acceptability, efficacy, and the cost-benefit ratio of these interventions. Findings indicated that all pathways were deemed socially valid via stakeholder consensus except for apprenticeships, which could not be determined as a result of limited stakeholder knowledge and experience with the pathway. Future efforts to improve employment outcomes for people with intellectual and developmental disabilities (IDD) should focus on better training for service providers and increased access to services.

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23. Srinivas S, Halaweish I, Knaus ME, Ahmad H, Griffin KL, Stephenson KG, Yossef L, Trimble C, Jimenez ALN, Lu A, Gasior A, Wood RJ, Williams KC. Outcomes of children with constipation and autism spectrum disorder treated with antegrade continence enemas. J Pediatr Gastroenterol Nutr;2024 (Jan 29)

BACKGROUND: Treatment of functional constipation (FC) in children with autism spectrum disorder (ASD) is challenging due to sensory and behavioral issues. We aimed to understand whether antegrade continence enemas (ACEs) are successful in the treatment of FC in children with ASD. METHODS: A single-institution retrospective review was performed in children diagnosed with ASD and FC who underwent appendicostomy or cecostomy placement from 2007 to 2019. Descriptive statistics regarding soiling and complications were calculated. RESULTS: There were 33 patients included, with a median age of 9.7 years at the time of ACE initiation. The average intelligence quotient was 63.6 (SD = 18.0, n = 12), the average behavioral adaptive score was 59.9 (SD = 11.1, n = 13), and the average total Child Behavioral Checklist score was 72.5 (SD = 7.1, n = 10). Soiling rates were significantly lower following ACE initiation (42.3% vs. 14.8%, p = 0.04). Behavioral issues only prevented 1 patient (3.0%) from proper ACE use. Eleven patients (36.6%) were able to transition to laxatives. There were significant improvements in patient-reported outcomes measures and quality of life. CONCLUSION: Placement of an appendicostomy or cecostomy for management of FC in children with severe ASD was successful in treating constipation and improving quality of life.

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24. Tadesse AW, Dachew BA, Ayano G, Betts K, Alati R. Prenatal cannabis use and the risk of attention deficit hyperactivity disorder and autism spectrum disorder in offspring: A systematic review and meta-analysis. J Psychiatr Res;2024 (Jan 23);171:142-151.

BACKGROUND: It is plausible that exposure to cannabis in-utero could be associated with an increased risk of neurodevelopmental disorders such as attention deficit hyperactivity disorder (ADHD) symptoms and autism spectrum disorder (ASD) during childhood and adolescence; however, mixed results have been reported. This study investigated whether there is an association between prenatal cannabis use and ADHD symptoms and ASD in offspring using a systematic review and meta-analysis methodology. METHODS: A systematic literature search was conducted in PubMed/Medline, Scopus, EMBASE, Web of Science, Psych-Info, and Google Scholar to identify relevant studies. The study protocol has been preregistered in the Prospective Register of Systematic Reviews (PROSPERO) (CRD42022345001), and the Newcastle-Ottawa Quality Assessment Scale (NOS) was used to assess the methodological quality of included studies. An inverse variance weighted random effect meta-analysis was conducted to pool the overall effect estimates from the included studies. RESULTS: Fourteen primary studies, consisting of ten on ADHD and four on ASD, with a total of 203,783 participants, were included in this study. Our meta-analysis underscores an increased risk of ADHD symptoms and/or disorder [β = 0.39: 95 % CI (0.20-0.58), I(2) = 66.85 %, P = 0.001)] and ASD [RR = 1.30: 95 % CI (1.03-1.64), I(2) = 45.5 %, P = 0.14] associated with in-utero cannabis exposure in offspring compared to their non-exposed counterparts. Additionally, our stratified analysis highlighted an elevated risk of ADHD symptoms [β = 0.54: 95 % CI (0.26-0.82)] and a marginally significant increase in the risk of diagnostic ADHD among exposed offspring compared to non-exposed counterparts [RR = 1.13, 95 % CI (1.01, 1.26)]. CONCLUSION: This study indicated that maternal prenatal cannabis exposure is associated with a higher risk of ADHD symptoms and ASD in offspring.

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25. Toll SA, Flore LA, Gorsi HS, Marupudi NI, Mody S, Kupsky W, Wang ZJ. Intracranial Germinoma in Two Caucasian American Siblings With Autism Spectrum Disorder. J Pediatr Hematol Oncol;2024 (Jan 29)

Intracranial germ cell tumors (IGCTs) comprise 3% to 5% of all pediatric brain tumors in the West, with a significantly higher prevalence in Asia. Although these tumors are histologically diverse, repeated somatic variants have been demonstrated. Chromosomal aneuploidies, such as Klinefelter and Down syndromes, are associated with IGCTs, but no familial germline tumor syndromes are currently known. Here, we report the novel case of 2 American siblings with underlying autism spectrum disorder who developed intracranial germinoma within months of each other, in the absence of external risk factors. Extensive genetic testing was performed, including karyotyping, chromosomal microarray, and whole exome and whole genome sequencing, and did not identify any variants accounting for the phenotypes. Despite the absence of overlapping variants, a recent retrospective review demonstrated a threefold greater prevalence of autism spectrum disorder in patients with intracranial germinoma compared with national prevalence. This report highlights the complexity of tumor development, as well as the need for further research regarding IGCTs in a neurodivergent population.

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26. Wang S, Xu Y. RNA structure promotes liquid-to-solid phase transition of short RNAs in neuronal dysfunction. Commun Biol;2024 (Jan 29);7(1):137.

In nucleotide expansion disorders, RNA foci are reportedly associated with neurodegenerative disease pathogeneses. Characteristically, these RNAs exhibit long poly-RNA repeats, such as 47 × CAG, 47 × CUG, or 29 × GGGGCC, usually becoming abnormal pathological aggregations above a critical number of nucleotide repeats. However, it remains unclear whether short, predominantly cellular RNA molecules can cause phase transitions to induce RNA foci. Herein, we demonstrated that short RNAs even with only two repeats can aggregate into a solid-like state via special RNA G-quadruplex structures. In human cells, these solid RNA foci could not dissolve even when using agents that disrupt RNA gelation. The aggregation of shorter RNAs can be clearly observed in vivo. Furthermore, we found that RNA foci induce colocalization of the RNA-binding protein Sam68, a protein commonly found in patients with fragile X-associated tremor/ataxia syndrome, suppressing cell clonogenicity and eventually causing cell death. Our results suggest that short RNA gelation promoted by specific RNA structures contribute to the neurological diseases, which disturb functional cellular processes.

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27. Yi S, Tang X, Chen F, Wang L, Chen J, Yang Z, Huang M, Yi S, Huang L, Yang Q, Yang S, Pan P, Qin Z, Luo J. A genetic variant in the MAST1 gene is associated with mega-corpus-callosum syndrome with hypoplastic cerebellar vermis, in a fetus. Mol Genet Genomic Med;2024 (Jan);12(1):e2358.

BACKGROUND: Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations is a rare neurological disorder that is associated with typical clinical and imaging features. The syndrome is caused by pathogenic variants in the MAST1 gene, which encodes a microtubule-associated protein that is predominantly expressed in postmitotic neurons in the developing nervous system. METHODS: Fetal DNA from umbilical cord blood samples and genomic DNA from peripheral blood lymphocytes were subjected to whole-exome sequencing. The potential causative variants were verified by Sanger sequencing. RESULTS: A 26-year-old primigravid woman was referred to our prenatal center at 25 weeks of gestation due to abnormal ultrasound findings in the brain of the fetus. The brain abnormalities included wide cavum septum pellucidum, shallow and incomplete bilateral lateral fissure cistern, bilateral dilated lateral ventricles, hyperplastic corpus callosum, lissencephaly, and cortical dysplasia. No obvious abnormalities were observed in the brainstem or cerebellum hemispheres, but the cerebellum vermis was small. Whole-exome sequencing identified a de novo, heterozygous missense variant, c.695T>C(p.Leu232Pro), in the MAST1 gene and a genetic diagnosis of mega-corpus-callosum syndrome was considered. CONCLUSION: This study is the first prenatal case of MAST1-related disorder reported in the Chinese population and has expanded the mutation spectrum of the MAST1 gene.

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