Pubmed du 20/11/23

Pubmed du jour

1. Alasmari M, Alduais A, Qasem F. A thematic review of autism spectrum disorder research in Saudi Arabia: Insights into diagnosis, assessment, and language considerations. Applied neuropsychology Child. 2023: 1-15.

This study reviews the crucial role of language in Autism Spectrum Disorder (ASD) diagnosis and assessment in Saudi Arabia. Using tailored search strings, 206 relevant documents were retrieved from the Web of Science and Scopus databases. An increasing trend in ASD research in Saudi Arabia was observed through temporal analysis. Keyword analysis identified key themes including « autism, » « language, » « assessment, » « diagnosis, » « Saudi Arabia, » and « children. » The focus of research has shifted over the years, from pure clinical and diagnostic aspects to a more comprehensive approach that includes language and cultural factors in ASD evaluation. The findings underscore the need for culturally and linguistically sensitive assessment tools, acknowledging the impact of bilingualism on language development, and the importance of language difficulties in diagnostic decision-making. The study highlights the necessity for further research, especially longitudinal studies examining the influence of language and cultural factors on ASD outcomes. The findings are significant for clinical practice, emphasizing the need for linguistically sensitive approaches in ASD diagnosis and assessment. This research serves as a guide for future studies by identifying the gaps in existing literature and areas of focus. The study identifies crucial gaps in existing literature, particularly the need for longitudinal studies examining the influence of language and cultural factors on ASD outcomes. The findings underscore the importance of culturally and linguistically sensitive approaches in ASD diagnosis and assessment, providing a novel insight for future research and clinical practice in Saudi Arabia.

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2. Broglia G, Nisticò V, Di Paolo B, Faggioli R, Bertani A, Gambini O, Demartini B. Traits of narcissistic vulnerability in adults with autism spectrum disorders without intellectual disabilities. Autism research : official journal of the International Society for Autism Research. 2023.

The relationship between Autism Spectrum Disorders (ASD) and Narcissistic Personality Disorder (NPD), considering the dimensions of narcissistic grandiosity and vulnerability, represents an important differential diagnosis and potential ground of comorbidity, since both conditions show high grades of pervasiveness, a life-long course, ego-syntonic traits, and difficulties in building up and sustaining interpersonal relationships Although the co-diagnosis rates, according to the categorical criteria in use, are limited (0%-6.4%), it is common to encounter diagnostic doubts in clinical practice. Here we investigated the dimensions of narcissistic vulnerability and grandiosity in a sample of 87 adults diagnosed with ASD without intellectual disabilities through the administration of the Pathological Narcissism Inventory-52 Items (PNI-52). The mean scores of our sample were compared with the normative distribution available in the literature, and we found that individuals with ASD scored significantly higher than neurotypical controls at the Total Score and at the Vulnerable Narcissism subscale, but not at the Grandiose Narcissism subscales. Demographic features did not influence these results. Vulnerable narcissism was significantly associated with the « Ritvo Autism and Asperger Diagnostic Scale – Revised » subscale Social Relatedness. These findings could potentially be indicative of a greater comorbidity rate between the two disorders with respect to the one reported to date, possibly because DSM-5 criteria are mainly focused on the grandiose dimension. Potential explanatory links between ASD phenomenology and vulnerable narcissism, such as the personality dimension of neuroticism, are discussed, together with the possible role of narcissistic vulnerability in mediating internalizing symptoms (e.g., anxiety, depression) in individuals with ASD.

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3. Divan G, Chiang CH, Villalobos M, Bakare M, Hoekstra RA. Shifting the centre of gravity: Towards a truly global representation in autism research. Autism : the international journal of research and practice. 2023: 13623613231214644.

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4. Garrison MA, Jang Y, Bae T, Cherskov A, Emery SB, Fasching L, Jones A, Moldovan JB, Molitor C, Pochareddy S, Peters MA, Shin JH, Wang Y, Yang X, Akbarian S, Chess A, Gage FH, Gleeson JG, Kidd JM, McConnell M, Mills RE, Moran JV, Park PJ, Sestan N, Urban AE, Vaccarino FM, Walsh CA, Weinberger DR, Wheelan SJ, Abyzov A. Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases. Scientific data. 2023; 10(1): 813.

Somatic mosaicism is defined as an occurrence of two or more populations of cells having genomic sequences differing at given loci in an individual who is derived from a single zygote. It is a characteristic of multicellular organisms that plays a crucial role in normal development and disease. To study the nature and extent of somatic mosaicism in autism spectrum disorder, bipolar disorder, focal cortical dysplasia, schizophrenia, and Tourette syndrome, a multi-institutional consortium called the Brain Somatic Mosaicism Network (BSMN) was formed through the National Institute of Mental Health (NIMH). In addition to genomic data of affected and neurotypical brains, the BSMN also developed and validated a best practices somatic single nucleotide variant calling workflow through the analysis of reference brain tissue. These resources, which include >400 terabytes of data from 1087 subjects, are now available to the research community via the NIMH Data Archive (NDA) and are described here.

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5. Kakuszi B, Hetesy S, Czobor P. [Self-harming behavior and suicide attempts in autism spectrum disorder: A systematic overview]. Psychiatria Hungarica : A Magyar Pszichiatriai Tarsasag tudomanyos folyoirata. 2023; 38(3): 245-55.

Recent research indicates that the risk of suicide attempts in autism spectrum disorder is substantially higher than in the general population. Although a number of factors may play a role in suicide, in the present review we focused on the meta-analyses that examined self-injurious behavior and suicide attempts in autism due to the importance of these factors. Results to date suggest that the risk of self-harming behavior and suicide attempts in autism is approximately three-times higher than in the general population. Of concern, are findings that suggest that women with autism are 5-13 times more likely to complete suicide than women without autism. It is noteworthy that the high-functioning autistic group has a significantly higher risk of suicide than the low-functioning group. By contrast, the risk of death from somatic causes is higher in the low-functioning autistic group. The results of this systematic overview of the available meta-analyses may help health care professionals, decision-makers, affected persons and their relatives to recognize self-injurious behavior and suicide risk in time, thereby facilitating prevention.

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6. Liu J, Liu QR, Wu ZM, Chen QR, Chen J, Wang Y, Cao XL, Dai MX, Dong C, Liu Q, Zhu J, Zhang LL, Li Y, Wang YF, Liu L, Yang BR. Specific brain imaging alterations underlying autistic traits in children with attention-deficit/hyperactivity disorder. Behavioral and brain functions : BBF. 2023; 19(1): 20.

BACKGROUND: Autistic traits (ATs) are frequently reported in children with Attention-Deficit/Hyperactivity Disorder (ADHD). This study aimed to examine ATs in children with ADHD from both behavioral and neuroimaging perspectives. METHODS: We used the Autism Spectrum Screening Questionnaire (ASSQ) to assess and define subjects with and without ATs. For behavioral analyses, 67 children with ADHD and ATs (ADHD + ATs), 105 children with ADHD but without ATs (ADHD - ATs), and 44 typically developing healthy controls without ATs (HC - ATs) were recruited. We collected resting-state functional magnetic resonance imaging (rs-fMRI) data and analyzed the mean amplitude of low-frequency fluctuation (mALFF) values (an approach used to depict different spontaneous brain activities) in a sub-sample. The imaging features that were shared between ATs and ADHD symptoms or that were unique to one or the other set of symptoms were illustrated as a way to explore the « brain-behavior » relationship. RESULTS: Compared to ADHD-ATs, the ADHD + ATs group showed more global impairment in all aspects of autistic symptoms and higher hyperactivity/impulsivity (HI). Partial-correlation analysis indicated that HI was significantly positively correlated with all aspects of ATs in ADHD. Imaging analyses indicated that mALFF values in the left middle occipital gyrus (MOG), left parietal lobe (PL)/precuneus, and left middle temporal gyrus (MTG) might be specifically related to ADHD, while those in the right MTG might be more closely associated with ATs. Furthermore, altered mALFF in the right PL/precuneus correlated with both ADHD and ATs, albeit in diverse directions. CONCLUSIONS: The co-occurrence of ATs in children with ADHD manifested as different behavioral characteristics and specific brain functional alterations. Assessing ATs in children with ADHD could help us understand the heterogeneity of ADHD, further explore its pathogenesis, and promote clinical interventions.

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7. McNeil K, Achenbach J, Lawson B, Delahunty-Pike A, Barber B, Diepstra H. Towards developing an intervention to support periodic health checks for adults with intellectual and developmental disabilities: Striving for health equity. Journal of applied research in intellectual disabilities : JARID. 2023.

BACKGROUND: Although the Canadian Consensus Guidelines for Primary Care of Adults with Intellectual and Developmental Disabilities recommends conducting periodic health checks in primary care, uptake is lacking. This study seeks to understand factors influencing the conduct of periodic health checks and identify what needs to change to increase them. METHOD: Qualitative data from five stakeholder groups (adults with intellectual and developmental disabilities, primary care providers, administrative staff, family, disability support workers) was guided by the Behaviour Change Wheel and the Theoretical Domains Framework to identify barriers and ‘what needs to change’ to support periodic health checks. RESULTS: Stakeholders (n = 41) voiced multiple barriers. A total of 31 common and 2 unique themes were identified plus 33 items ‘needing to change’. CONCLUSION: Despite barriers, stakeholders saw merit in periodic health checks as a preventative and equitable healthcare offering for adults with intellectual and developmental disabilities. Results will inform future intervention development steps.

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8. Skorokhodov IV, Radygina KP, Skorokhodova EY, Firsova SP, Portnova GV, Varlamov AA. Development and Initial Validation of the Russian Version of the RAADS-14: A Self-Report Questionnaire to Assess Autistic Traits. European journal of investigation in health, psychology and education. 2023; 13(11): 2724-35.

Autism is a relatively common neurodevelopmental condition that affects social communication and behavior, affecting the overall quality of life. The prevalence of autism is constantly increasing, but timely diagnosis allows for effective treatment. The aim of our research was to construct a Russian version of the RAADS-14, a brief self-report questionnaire originally designed for autism screening, and to perform its initial validation to provide a reference point in developing autism self-assessment tools for the Russian-speaking population. Psychometric properties of the RAADS-14 Rus were evaluated on a sample of 1724 participants, including a general sample of non-psychiatric young adults (n = 794) and adults with clinically established ASD (n = 49); a brief Russian inventory assessing Big Five personality traits (FFQ) was administered to a part of the sample (n = 364) to provide the first assessment of criterion validity. Confirmatory factor analysis of the RAADS-14 Rus confirmed the factor structure of the original Swedish version yielding acceptable fit indices. The discriminating properties were substantially worse than in the original study. The correlations between the RAADS-14 Rus domain scores and the Big Five factors were similar to previously obtained findings. Overall, the results suggest that the RAADS-14 Rus can be used as a screening tool for ASD in adults with proper caution and considering its discriminating properties.

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9. Taresh SM, Morett LM, Zaid SM, Roslan S, Taresh Taleb M, Song P, Ahmad NA, Noman S. Preschool teachers’ knowledge, beliefs, and self-efficacy concerning autism: A parallel mixed-methods study of an intervention to improve autism identification. Autism : the international journal of research and practice. 2023: 13623613231211850.

Preschool teachers can play a critical role in early detection of autism. Equipping preschool teachers with prerequisite knowledge and skills would allow them to identify children with probable autism and referral to diagnostic services. This study aimed to investigate the impact of an educational module (EMiASD) that prepared preschool teachers to identify autism symptoms. The sample included 144 preschool teachers, of which 120 were stratified and randomly assigned to an intervention arm receiving training in EMiASD (n = 60) or a comparison arm receiving standard training (n = 60) using a parallel mixed-methods design. Responses to open-ended questions about video case studies revealed improvement in the identification of autism symptoms in preschool teachers in the intervention arm, in contrast to preschool teachers in the comparison arm. Moreover, significant changes in knowledge, belief, and self-efficacy about autism favoured EMiASD. Overall, these results demonstrate the influence of EMiASD in the Yemeni cultural context.

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10. Velez MP, Dayan N, Shellenberger J, Pudwell J, Kapoor D, Vigod SN, Ray JG. Infertility and Risk of Autism Spectrum Disorder in Children. JAMA network open. 2023; 6(11): e2343954.

IMPORTANCE: Previous studies on the risk of childhood autism spectrum disorder (ASD) following fertility treatment did not account for the infertility itself or the mediating effect of obstetrical and neonatal factors. OBJECTIVE: To assess the association between infertility and its treatments on the risk of ASD and the mediating effect of selected adverse pregnancy outcomes on that association. DESIGN, SETTING, AND PARTICIPANTS: This was a population-based cohort study in Ontario, Canada. Participants were all singleton and multifetal live births at 24 or more weeks’ gestation from 2006 to 2018. Data were analyzed from October 2022 to October 2023. EXPOSURES: The exposure was mode of conception, namely, (1) unassisted conception, (2) infertility without fertility treatment (ie, subfertility), (3) ovulation induction (OI) or intrauterine insemination (IUI), or (4) in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI). MAIN OUTCOME AND MEASURES: The study outcome was a diagnosis of ASD at age 18 months or older. Cox regression models generated hazard ratios (HR) adjusted for maternal and infant characteristics. Mediation analysis further accounted for the separate effect of (1) preeclampsia, (2) cesarean birth, (3) multifetal pregnancy, (4) preterm birth at less than 37 weeks, and (5) severe neonatal morbidity. RESULTS: A total of 1 370 152 children (703 407 male [51.3%]) were included: 1 185 024 (86.5%) with unassisted conception, 141 180 (10.3%) with parental subfertility, 20 429 (1.5%) following OI or IUI, and 23 519 (1.7%) following IVF or ICSI. Individuals with subfertility or fertility treatment were older and resided in higher-income areas; the mean (SD) age of each group was as follows: 30.1 (5.2) years in the unassisted conception group, 33.3 (4.7) years in the subfertility group, 33.1 (4.4) years in the OI or IUI group, and 35.8 (4.9) years in the IVF or ICSI group. The incidence rate of ASD was 1.93 per 1000 person-years among children in the unassisted conception group. Relative to the latter, the adjusted HR for ASD was 1.20 (95% CI, 1.15-1.25) in the subfertility group, 1.21 (95% CI, 1.09-1.34) following OI or IUI, and 1.16 (95% CI, 1.04-1.28) after IVF or ICSI. Obstetrical and neonatal factors appeared to mediate a sizeable proportion of the aforementioned association between mode of conception and ASD risk. For example, following IVF or ICSI, the proportion mediated by cesarean birth was 29%, multifetal pregnancy was 78%, preterm birth was 50%, and severe neonatal morbidity was 25%. CONCLUSIONS AND RELEVANCE: In this cohort study, a slightly higher risk of ASD was observed in children born to individuals with infertility, which appears partly mediated by certain obstetrical and neonatal factors. To optimize child neurodevelopment, strategies should further explore these other factors in individuals with infertility, even among those not receiving fertility treatment.

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11. Wadhera T. Multimodal Kernel-based discriminant correlation analysis data-fusion approach: an automated autism spectrum disorder diagnostic system. Physical and engineering sciences in medicine. 2023.

Autism spectrum disorder (ASD) diagnostic systems, based on association of multimodal tools such as combination of Electroencephalogram (EEG) and eye-tracking, have emerged as an analytical to provide objective biomarkers. However, the existing feature-redundancy-based systems have lacked in providing knowledge of fusion approaches and robust feature-set. The present paper aims to reduce disorder homogeneity by proposing a multimodal diagnostic system which can incorporate multimodal data. The paper has collected simultaneous-data from three modalities (laptop-performance tool, EEG machine, and Eye-tracker) fused the recorded computational, neural and visual data. The multimodal features are analyzed via proposed multimodal Kernel-based discriminant correlation analysis (MKDCA) fusion approach and classified using state-of-the-art machine-learning classifiers. The proposed framework has considered the distinct cardinality of the feature vectors and fused the group structure among multiple samples after ranking them in increasing order. As per the results, the proposed multimodal system provided fused feature set of 11 influential features out of total 39 features. The SVM classifier has diagnosed ASD with 92% testing accuracy and 0.988 AUC(ROC). The proposed automated fusion-based system has the potential to classify disorder by reducing the disorder heterogeneity and stratifying ASD individuals into homogeneous sub-groups. In future, the correlation of reduced feature set with ASD clinical symptoms accounted by screening scales can provide clinical relevance of proposed model.

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