1. Correction to ‘Changes in neuroinflammatory markers and microglial density in the hippocampus and prefrontal cortex of the C58/J mouse model of autism’. Eur J Neurosci. 2024.

Lien vers le texte intégral (Open Access ou abonnement)

2. Abu-Doleh A, Abu-Qasmieh IF, Al-Quran HH, Masad IS, Banyissa LR, Ahmad MA. Recognition of autism in subcortical brain volumetric images using autoencoding-based region selection method and Siamese Convolutional Neural Network. Int J Med Inform. 2024; 194: 105707.

BACKGROUND: Autism Spectrum Disorder (ASD) is a neurodevelopmental condition that affects social interactions and behavior. Accurate and early diagnosis of ASD is still challenging even with the improvements in neuroimaging technology and machine learning algorithms. It’s challenging because of the wide range of symptoms, delayed appearance of symptoms, and the subjective nature of diagnosis. In this study, the aim is to enhance ASD recognition by focusing on brain subcortical regions, which are critical for understanding ASD pathology. METHODOLOGY: First, subcortical structures were extracted from a collection of brain MRI datasets using sophisticated processing steps. Next, a 3D autoencoder was trained on these 3D images to help identify brain regions related to ASD. Two distinct feature selection methods were then applied to the features extracted from the encoder. The highest-ranked features were iteratively selected and increased to reconstruct a specific percentage of the brain that represents the most relevant parts for ASD. Finally, a Siamese Convolutional Neural Network (SCNN) was employed as the classifier model. RESULTS: The 3D autoencoder stage helped in identifying and reconstructing the significant subcortical regions related to ASD. Based on the studied dataset, high agreement in regions like the Putamen and Pallidum indicated the critical nature of these structures in distinguishing Autism from controls cases. Subsequently, applying SCNN on these selected subcortical regions yielded promising results. For example, using the classifier on the output regions identified by the Mutual Information (MI) features selection method achieved the highest accuracy of 0.66. CONCLUSIONS: This study shows that using a two-stage model involving autoencoder and SCNN can notably improve the classification of ASD from brain MRI volumetric images. Applying an iterative feature extraction approach allowed to achieve a more accurate identification of ASD-related brain areas. This two-stage approach not only improved classification performance but also enhanced the interpretability of the neuroimaging data.

Lien vers le texte intégral (Open Access ou abonnement)

3. Alhwaiti M. The mediating role of emotional regulation and emotional expression in the relationship between autistic traits and empathy in Saudi students. Int J Dev Disabil. 2024; 70(6): 976-85.

The aim was to investigate the mediating role of emotional regulation and emotional expression in the relationship between autistic traits and empathy in Saudi students. Participants were undergraduate students at Umm Al-Qura University. A total of 398 questionnaires were sent out, and 260 valid questionnaires were received. Descriptive statistics and correlation analysis were conducted on the variables hypothesized in the study; on this basis, the structural process model modeling method was used to examine the impact of autistic trait empathy after controlling for factors unrelated to age and gender. This study investigated the relationship between empathy, emotional expression, cognitive reappraisal, and autistic traits in Saudi students. A statistical analysis to test the posited hypotheses was undertaken using IBM SPSS Statistics, version 26. Key descriptive statistics were undertaken using the software, making it possible to study the distributions of successive measured variables. The results found that autistic traits can directly and negatively predict empathy, and also through negative emotional expression and cognitive reappraisal can indirectly predict empathy, and can even predict empathy through the chain mediation of negative emotional expression and positive emotional expression to cognitive reappraisal. However, autistic traits did not predict empathy through positive emotional expression.

Lien vers le texte intégral (Open Access ou abonnement)

4. Alnahdi GH, Alwadei A, Schwab S. Family quality of life of caregivers of individuals with autism, with other disabilities, and without disabilities: the case of Saudi Arabia. Int J Dev Disabil. 2024; 70(6): 1010-21.

This comprehensive study delves into the family quality of life (FQOL) of caregivers in Saudi Arabia, focusing on those caring for individuals with autism, intellectual disabilities, and other disabilities and those without any disabilities. Employing the Arabic version of the Beach Center FQOL Scale, the research encompasses a diverse group of 1065 family members. It reveals that caregivers of individuals without disabilities experience notably higher FQOL, especially in domains such as family interaction, parenting, emotional, and physical/material well-being. The study also identifies unique FQOL challenges encountered by caregivers of individuals with autism. These insights underscore the necessity for specific support mechanisms catering to the distinct needs of caregivers, particularly those handling autism-related challenges, highlighting a critical area for targeted interventions and policy formulation.

Lien vers le texte intégral (Open Access ou abonnement)

5. Amaral DG, Andrews DS, Nordahl CW. Structural Brain Imaging Biomarkers of Autism Spectrum Disorder. Adv Neurobiol. 2024; 40: 491-509.

Since the early 1990s, there have literally been thousands of reports related to magnetic resonance imaging of the autistic brain. The goals of these studies have ranged from identifying the earliest biological predictors of an autistic diagnosis to determining brain systems most altered in autistic individuals. Some of the later works attempt to use distinct patterns of brain alterations to help define more homogenous subtypes of autism. Far less work has been done to identify brain changes that are associated with therapeutic interventions. In this chapter, we will touch on all of these efforts as they relate to the general topic of the usefulness of brain imaging as a biomarker of autism.

Lien vers le texte intégral (Open Access ou abonnement)

6. Budisteanu M, Papuc SM, Erbescu A, Glangher A, Andrei E, Rad F, Hinescu ME, Arghir A. Review of structural neuroimaging and genetic findings in autism spectrum disorder – a clinical perspective. Rev Neurosci. 2024.

Autism spectrum disorders (ASDs) are neurodevelopmental conditions characterized by deficits in social relationships and communication and restrictive, repetitive behaviors and interests. ASDs form a heterogeneous group from a clinical and genetic perspective. Currently, ASDs diagnosis is based on the clinical observation of the individual’s behavior. The subjective nature of behavioral diagnoses, in the context of ASDs heterogeneity, contributes to significant variation in the age at ASD diagnosis. Early detection has been proved to be critical in ASDs, as early start of appropriate therapeutic interventions greatly improve the outcome for some children. Structural magnetic resonance imaging (MRI) is widely used in the diagnostic work-up of neurodevelopmental conditions, including ASDs, mostly for brain malformations detection. Recently, the focus of brain imaging shifted towards quantitative MRI parameters, aiming to identify subtle changes that may establish early detection biomarkers. ASDs have a strong genetic component; deletions and duplications of several genomic loci have been strongly associated with ASDs risk. Consequently, a multitude of neuroimaging and genetic findings emerged in ASDs in the recent years. The association of gross or subtle changes in brain morphometry and volumes with different genetic defects has the potential to bring new insights regarding normal development and pathomechanisms of various disorders affecting the brain. Still, the clinical implications of these discoveries and the impact of genetic abnormalities on brain structure and function are unclear. Here we review the literature on brain imaging correlated with the most prevalent genomic imbalances in ASD, and discuss the potential clinical impact.

Lien vers le texte intégral (Open Access ou abonnement)

7. Detroja S, Bhatia G. Early Screen Exposure and Developmental Abnormalities: Understanding the Trepidations of « Virtual Autism ». Indian J Psychol Med. 2024: 02537176241263310.

Lien vers le texte intégral (Open Access ou abonnement)

8. Eisfeldt J, Higginbotham EJ, Lenner F, Howe J, Fernandez BA, Lindstrand A, Scherer SW, Feuk L. Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing. Genome Res. 2024; 34(11): 1763-73.

Rare or de novo structural variation, primarily in the form of copy number variants, is detected in 5%-10% of autism spectrum disorder (ASD) families. While complex structural variants involving duplications can generally be detected using microarray or short-read genome sequencing (GS), these methods frequently fail to characterize breakpoints at nucleotide resolution, requiring additional molecular methods for validation and fine-mapping. Here, we use Oxford Nanopore Technologies PromethION long-read GS to characterize complex genomic rearrangements (CGRs) involving large duplications that segregate with ASD in five families. In total, we investigated 13 CGR carriers and were able to resolve all breakpoint junctions at nucleotide resolution. While all breakpoints were identified, the precise genomic architecture of one rearrangement remained unresolved with three different potential structures. The findings in two families include potential fusion genes formed through duplication rearrangements, involving IL1RAPL1-DMD and SUPT16H-CHD8 In two of the families originating from the same geographical region, an identical rearrangement involving ANK2 was identified, which likely represents a founder variant. In addition, we analyze methylation status directly from the long-read data, allowing us to assess the activity of rearranged genes and regulatory regions. Investigation of methylation across the CGRs reveals aberrant methylation status in carriers across a rearrangement affecting the CREBBP locus. In aggregate, our results demonstrate the utility of nanopore sequencing to pinpoint CGRs associated with ASD in five unrelated families, and highlight the importance of a gene-centric description of disease-associated complex chromosomal rearrangements.

Lien vers le texte intégral (Open Access ou abonnement)

9. Emam MM, Gaafar Ali D, Eswaramangalam A, Mohamed Helmy N, Hemdan A, Ismael M, M HS, Almaawali M. Social inclusion of children with autism spectrum disorders and mothers’ mental health in two Arabic-speaking countries: a mediational model of culture and resilience. Int J Dev Disabil. 2024; 70(6): 1031-43.

OBJECTIVES: Mothers of children with autism spectrum disorders (ASDs) have been reported to be more likely to experience lower levels of mental health as a result of the increased challenges associated with care provision and social inclusion of their children. Social inclusion in Arab countries differs in terms of quality and practices due to ecological and cultural variations. Based on an expected impact of culture and resilience, this study investigated the relationship between social inclusion practices and mothers’ mental health in two Arabic-speaking countries. METHODS: A total sample of 660 mothers of children with ASD from Oman and Egypt participated in the study and were administered measures of perceived social inclusion practices, mental health, and resilience. RESULTS: Multi-group path analyses showed that culture and resilience have an impact on the association between social inclusion practices and mothers’ mental health. CONCLUSIONS: Our findings have significant implications for social inclusion practices. They underscore the need to build mothers’ resilience to improve their mental health. Additionally, social inclusion practices need to be prioritized by policy makers and professionals in Arab countries in order to develop a model of best practices of social inclusion across Arab countries.

Lien vers le texte intégral (Open Access ou abonnement)

10. Fang L, Wang Z, Zhao J, Wu X, Wang S, Gao H, Wu D. Association between human herpesviruses infections and childhood neurodevelopmental disorders: insights from two-sample mendelian randomization analyses and systematic review with meta-analysis. Ital J Pediatr. 2024; 50(1): 248.

BACKGROUND: The potential roles of viral infections in neurodevelopmental disorders (NDDs) have been suggested based on previous studies. Given the high prevalence of human herpesviruses (HHVs), the associations between HHVs infection and the risk of NDDs warrant explored. METHODS: Our study employs a two-sample Mendelian randomization (MR) analysis and systematic review with meta-analysis to investigate whether genetically predicted HHVs infection are linked to three main childhood NDDs-autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), and Tourette syndrome (TS). We utilized genetic variants associated with HHV infections in genome-wide association study (GWAS) summary datasets of European populations to establish instrumental variables and statistics for three NDDs obtained from Psychiatric Genomics Consortium. MR analysis was performed using inverse-variance weighted, MR Egger, weighted median, simple median, weighted mode, and MR-PRESSO. In addition, publications associating HHVs infection with three NDDs were systematically searched using PubMed, Web of Science, and three Chinese databases for meta-analyses. RESULTS: The MR results found no evidence to support a link between genetically predicted HHVs infection and the risk of NDDs based on existing datasets. Twenty-seven observational studies on children with HHVs infection and NDDs were considered eligible. Meta-analysis showed that cytomegalovirus and HHV-6 infection were related with ASD, while Epstein-Barr virus and cytomegalovirus infection were associated with TD in Chinese population. CONCLUSIONS: These results contribute to a comprehensive understanding of the possibilities underlying HHV infections in affecting childhood NDDs. Further research is necessary to include larger and more robust statistics of HHV infections and NDDs. TRIAL REGISTRATION: This systematic review was registered at PROSPERO as CRD42024554169. Retrospectively registered 26 July 2024.

Lien vers le texte intégral (Open Access ou abonnement)

11. Gaad E, Alborno N. Social inclusion for individuals with developmental disabilities in the Middle East. Int J Dev Disabil. 2024; 70(6): 973-5.

Lien vers le texte intégral (Open Access ou abonnement)

12. Hudac CM, Webb SJ. EEG Biomarkers for Autism: Rational, Support, and the Qualification Process. Adv Neurobiol. 2024; 40: 545-76.

In this chapter, we highlight the advantages, progress, and pending challenges of developing electroencephalography (EEG) and event-related potential (ERP) biomarkers for use in autism spectrum disorder (ASD). We describe reasons why global efforts towards precision treatment in ASD are utilizing EEG indices to quantify biological mechanisms. We overview common sensory processing and attention biomarkers and provide translational examples examining the genetic etiology of autism across animal models and human subgroups. We describe human-specific social biomarkers related to face perception, a complex social cognitive process that may prove informative of autistic social behaviors. Lastly, we discuss outstanding considerations for quantifying EEG biomarkers, the challenges associated with rigor and reproducibility, contexts of future use, and propose opportunities for combinatory multidimensional biomarkers.

Lien vers le texte intégral (Open Access ou abonnement)

13. Lee HHC, Sahin M. Rodent Models for ASD Biomarker Development. Adv Neurobiol. 2024; 40: 189-218.

Advances in molecular biology and genetics are increasingly revealing the complex etiology of autism spectrum disorder (ASD). In parallel, a number of biochemical, anatomical, and electrophysiological measures are emerging as potential disease-relevant biomarkers that could inform the diagnosis and clinical management of ASD. Rodent ASD models play a key role in ASD research as essential experimental tools. Nevertheless, there are challenges and limitations to the validity and translational value of rodent models, including genetic relevance and cognitive performance differences between humans and rodents. In this chapter, we begin with a brief history of autism research, followed by prominent examples of disease-relevant mouse models enabled by current knowledge of genetics, molecular biology, and bioinformatics. These ASD-associated rodent models enable quantifiable biomarker development. Finally, we discuss the prospects of ASD biomarker development.

Lien vers le texte intégral (Open Access ou abonnement)

14. Lee K, Cho IH, Park J, Choi H, Cheon KA. Response inhibition as a critical executive function in differentiating attention-deficit/hyperactivity disorder from autism spectrum disorder: a comprehensive attention test study. Front Psychiatry. 2024; 15: 1426376.

BACKGROUND: Autism Spectrum Disorder (ASD) and Attention-Deficit/Hyperactivity Disorder (ADHD) are both associated with impairment in executive function, particularly in complex attention. Although previous studies using clinical assessments have attempted to delineate differences between these disorders, the findings have been inconclusive. Our study aims to elucidate the differences of endophenotype between ASD, ADHD, and their co-occurring condition utilizing a uniform computerized test. METHODS: The study included children diagnosed with ASD, ASD co-occurring with ADHD (ASD+ADHD), or ADHD who completed the comprehensive attention test (CAT) at Severance Hospital between October 2013 to May 2023. We excluded children with intellectual disability and comorbid major psychiatric or neurologic disorders possibly affecting attention measurement. The participants were categorized into three groups for the comparative analysis of CAT measures: (a) ASD (n=112), (b) ASD+ADHD (n=155), and (c) ADHD (n=104). The study also conducted an exploratory analysis utilizing multivariate linear regression analysis to examine the association between the CAT measures and parent-reported scales. RESULTS: Notably, the ASD+ADHD and ADHD groups exhibited higher frequency of commission errors (CE) and perseveration errors (PE) compared to the ASD group. In the exploratory analysis, a significant negative association was observed between reaction time (RT) and both the social communication questionnaire (SCQ) and the child behavior checklist (CBCL) externalization scores in the ASD+ADHD and ADHD groups. The ASD+ADHD group tended to show higher standard deviation of reaction time (RTSD) compared to the ASD group. CONCLUSIONS: Our findings suggest that impaired response inhibition is more pronounced in ADHD compared to ASD. We propose altered visual attention, reflecting response inhibition, may serve as potential endophenotypic markers differentiating ADHD from ASD in attentional assessment. Elevated RTSD in the ASD+ADHD group demonstrates additive pathology, suggesting that the neurological mechanisms underpinning impaired sustained attention may differ between the two conditions.

Lien vers le texte intégral (Open Access ou abonnement)

15. Lei J, Mason C, Russell A, Hollocks MJ, Leigh E. Understanding Mechanisms that Maintain Social Anxiety Disorder in Autistic Individuals Through the Clark and Wells (1995) Model and Beyond: A Systematic Review. Clin Child Fam Psychol Rev. 2024.

Given the high co-occurrence of social anxiety in autism, no reviews to date have explored how cognitive and behavioural mechanisms identified to maintain social anxiety in non-autistic individuals may operate in autistic individuals. This systematic review evaluated: (1) empirical evidence underlying the Clark and Wells (1995) Cognitive Model of Social Anxiety in autistic individuals; (2) how vulnerability factors identified from autism literature (beyond core autistic traits) may be associated with social anxiety beyond the cognitive model. Published peer-reviewed English articles until 27th November 2023 were retrieved from PubMed, EMBASE, Ovid MEDLINE and PsycINFO. Quality appraisal and risk of bias were assessed using The Standard Quality Assessment Criteria for Evaluating Primary Research papers from a Variety of Fields tool. 47 articles met full inclusion criteria and included autistic individuals (with clinical diagnosis), a measure of social anxiety, and a mechanism outlined by either (or both) research questions. The majority of the 3340 participants across studies were male without intellectual disability, White/Caucasian, with 7 studies reporting an average age above 30 years old. Most studies used only self-report measures that may have inflated associations observed between social anxiety and mechanisms. All studies employed cross-sectional design, and no causality inferences could be drawn. Methodological issues around potential construct overlaps between social anxiety and autistic traits are highlighted. Overall, there is evidence in support of the as reported by Clark and Well (in: Heimberg (eds), A cognitive model of social phobia, The Guilford Press, 1995) model, as greater fear of negative evaluation from others, use of safety behaviours and somatic symptoms, and peer victimisation were associated with greater social anxiety. The review contributes evidence in support of autism specific contextual, predisposing/antecedent and maintenance factors of social anxiety beyond the original Clark and Well (in: Heimberg (eds), A cognitive model of social phobia, The Guilford Press, 1995) model. Given the potential for considerable heterogeneity for each highlighted process at an individual level across autistic individuals, clinicians can broaden formulation conversations with autistic clients to understand how autism related factors may influence the development and maintenance of social anxiety symptoms when applying and adapting the Clark and Well (in: Heimberg (eds), A cognitive model of social phobia, The Guilford Press, 1995) model.

Lien vers le texte intégral (Open Access ou abonnement)

16. Lu H, Wang S, Gao L, Xue Z, Liu J, Niu X, Zhou R, Guo X. Links between brain structure and function in children with autism spectrum disorder by parallel independent component analysis. Brain Imaging Behav. 2024.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder accompanied by structural and functional changes in the brain. However, the relationship between brain structure and function in children with ASD remains largely obscure. In the current study, parallel independent component analysis (pICA) was performed to identify inter-modality associations by drawing on information from different modalities. Structural and resting-state functional magnetic resonance imaging data from 105 children with ASD and 102 typically developing children (obtained from the open-access Autism Brain Imaging Data Exchange database) were combined through the pICA framework. Features of structural and functional modalities were represented by the voxel-based morphometry (VBM) and amplitude of low-frequency fluctuations (ALFF), respectively. The relationship between the structural and functional components derived from the pICA was investigated by Pearson’s correlation analysis, and between-group differences in these components were analyzed through the two-sample t-test. Finally, multivariate support vector regression analysis was used to analyze the relationship between the structural/functional components and Autism Diagnostic Observation Schedule (ADOS) subscores in the ASD group. This study found a significant association between VBM and ALFF components in ASD. Significant between-group differences were detected in the loading coefficients of the VBM component. Furthermore, the ALFF component loading coefficients predicted the subscores of communication and repetitive stereotypic behaviors of the ADOS. Likewise, the VBM component loading coefficients predicted the ADOS communication subscore in ASD. These findings provide evidence of a link between brain function and structure, yielding new insights into the neural mechanisms of ASD.

Lien vers le texte intégral (Open Access ou abonnement)

17. Manohar H, Kishore T, Jacob P. Indian Scale for Assessment of Autism (ISAA): Issues with the Current Assessment Scale and Recommendations for Disability Assessment. Indian J Psychol Med. 2024: 02537176231209618.

Lien vers le texte intégral (Open Access ou abonnement)

18. Manohar H, Kommu JVS, Kishore MT, Jacob P, Jayarajan D. Experiences of Parenting an Autistic Individual During Adolescence and Emerging Adulthood in the Indian Context: An Interpretative Phenomenological Analysis. Indian J Psychol Med. 2024: 02537176241238417.

BACKGROUND AND AIMS: The needs of autistic individuals and their families are unique in each developmental phase, but this diversity is more palpable during adolescence. Literature generally presents a view that caregivers experience challenges in caring for autistic children, especially in low- and middle-income countries, where formal support services are uneven or unavailable. The present study explored the lived experiences of parents of autistic adolescents in the Indian context. METHODS: In-depth interviews with 12 parents were analyzed using an interpretative phenomenological approach. RESULTS: Three superordinate themes were derived: (a) Acceptance alongside recurring experiences of grief and loss, (b) post-traumatic growth and vicarious transformation, and (c) What after me? Planning for future care services with limited systemic support.Beginning with the initial recognition and diagnosis of autism spectrum disorder, parents progressed through a series of experiences that strengthened and challenged their understanding and aided in their acceptance. Parents recognize their adolescents’ key attributes, growth, development, and persisting differences that could contribute to future challenges. Grief experiences, however, sporadic, persisted alongside acceptance. CONCLUSION: Despite challenges, families were adapting to the changing needs of the developmental phases in unique ways, with or without formal support available to them. Nonetheless, there is a considerable need to address the existing gaps and felt needs of parents, focusing on empowering parents and capacity building toward providing comprehensive services to autistic individuals with a lifespan approach.

Lien vers le texte intégral (Open Access ou abonnement)

19. Naggar AE. Exploring parental use of social media among autism spectrum disorder families in the UAE: perspectives and challenges in fostering social inclusion. Int J Dev Disabil. 2024; 70(6): 1092-101.

This study examines the parental use of social media within autism spectrum disorder (ASD) families in the United Arab Emirates (UAE), focusing on perspectives and challenges in promoting social inclusion. Through semi-structured interviews with 21 participants, including 16 females and 5 males aged between 36 and 47, insights were gained into their experiences navigating social media platforms. Using thematic analysis, findings reveal varied approaches to leveraging social media for fostering social inclusion, alongside challenges such as misinformation and stigma. The study underscores the importance of understanding parental strategies and barriers in utilizing social media for supporting children with ASD in the UAE.

Lien vers le texte intégral (Open Access ou abonnement)

20. Onat M, Nas Ünver AB, Şenses Dinç G, Çöp E, Pekcanlar Akay A. Comparisons between obsessive-compulsive disorder and trichotillomania in terms of autistic traits and repetitive behaviors in adolescents. Nord J Psychiatry. 2024: 1-8.

BACKGROUND: Our study aims to reveal the relationship between autistic traits and repetitive behaviors in adolescents diagnosed with obsessive-compulsive disorder and trichotillomania and to compare them to healthy controls. METHOD: A total of 100 adolescents, 33 of whom were diagnosed with obsessive-compulsive disorder, 32 of whom were diagnosed with trichotillomania and 35 healthy controls, aged 11-18 years, who applied to a Child and Adolescent Psychiatry Outpatient Clinic between February 2023 and July 2023, were included in the study. Participants were evaluated with the Autism Spectrum Quotient (AQ)-Adolescent, Repetitive Behavior Scale-Revised (RBS-R), Children’s Yale-Brown Obsessive Compulsive Scale (CY-BOCS), and Clinical Global Impression Scale-Severity (CGI-S). SPSS 25.0 program was used in the analysis. p < 0.05 was accepted as the significance level. RESULTS: It was found that adolescents diagnosed with obsessive-compulsive disorder and trichotillomania had higher autistic trait levels compared to healthy controls, while there was no significant difference between the obsessive-compulsive disorder and trichotillomania groups. While stereotypic, routine, sameness, and restricted repetitive behaviors were more common in the obsessive-compulsive disorder and trichotillomania groups as opposed to healthy controls, it was found that compulsive behavior was more common in the obsessive-compulsive disorder group, and self-injurious behavior was more common in the trichotillomania group compared to healthy controls. CONCLUSION: The findings of our study indicate that adolescents diagnosed with trichotillomania, similar to those with obsessive-compulsive disorder, have a higher level of autistic traits and repetitive behaviors. The authors believe it is crucial to focus on the social skill difficulties these adolescents may be experiencing.

Lien vers le texte intégral (Open Access ou abonnement)

21. Park S, Thomson P, Kiar G, Castellanos FX, Milham MP, Bernhardt B, Di Martino A. Delineating a Pathway for the Discovery of Functional Connectome Biomarkers of Autism. Adv Neurobiol. 2024; 40: 511-44.

The promise of individually tailored care for autism has driven efforts to establish biomarkers. This chapter appraises the state of precision-medicine research focused on biomarkers based on the functional brain connectome. This work is grounded on abundant evidence supporting the brain dysconnection model of autism and the advantages of resting-state functional MRI (R-fMRI) for studying the brain in vivo. After considering biomarker requirements of consistency and clinical relevance, we provide a scoping review of R-fMRI studies of individual prediction in autism. In the past 10 years, responding to the availability of open data through the Autism Brain Imaging Data Exchange, machine learning studies have surged. Nearly all have focused on diagnostic label classification. These efforts have shown that autism prediction is feasible using functional connectome markers, with accuracy reported well above chance. In parallel, emerging approaches more directly addressing autism heterogeneity are paving the way for much-needed biomarkers of longitudinal outcome and treatment response. We conclude with key challenges to be addressed by the next generation of studies.

Lien vers le texte intégral (Open Access ou abonnement)

22. Pultsina KI, Stroganova TA, Kozunova GL, Prokofyev AO, Miasnikova AS, Rytikova AM, Chernyshev BV. Atypical pupil-linked arousal induced by low-risk probabilistic choices, and intolerance of uncertainty in adults with ASD. Cogn Affect Behav Neurosci. 2024.

Adults with autism spectrum disorder (ASD) experience stress when operating in a probabilistic environment, even if it is familiar, but the underlying mechanisms remain unclear. Their decision-making may be affected by the uncertainty aversion implicated in ASD and associated with increased autonomic arousal. Previous studies have shown that in neurotypical (NT) people, decisions with predictably better outcomes are less stressful and elicit smaller pupil-linked arousal than those involving exploration. Here, in a sample of 46 high-functioning ASD and NT participants, using mixed-effects model analysis, we explored pupil-linked arousal and behavioral performance in a probabilistic reward learning task with a stable advantage of one choice option over the other. We found that subjects with ASD learned and preferred advantageous probabilistic choices at the same rate and to the same extent as NT participants, both in terms of choice ratio and response time. Although both groups exhibited similar predictive behaviors, learning to favor advantageous choices led to increased pupillary arousal for these choices in the ASD group, while it caused a decrease in pupillary arousal in the NT group. Moreover, greater pupil-linked arousal during decisions with higher expected value correlated with greater degree of self-reported intolerance of uncertainty in everyday life. Our results suggest that in a nonvolatile probabilistic environment, objectively good predictive abilities in people with ASD are coupled with elevated physiological stress and subjective uncertainty regarding the decisions with the best possible but still uncertain outcome that contributes to their intolerance of uncertainty.

Lien vers le texte intégral (Open Access ou abonnement)

23. Rababa M, Ayasrah S. The effectiveness of a training program based on the assessment of basic language and learning skills- revised tool ‘ABLLS-R’ in reducing stereotyped behaviors among children with autism spectrum disorder. Int J Dev Disabil. 2024; 70(6): 1068-81.

This study investigates the efficiency of a developed training program based on ABLLS-R in reducing stereotypical behaviors among children with autism spectrum disorder (ASD). The experimental approach is employed specifically the single experimental group. The study population consists of 7 children with simple ASD. A measuring stereotypical behaviors was developed which includes two dimensions (motor stereotypical and routine stereotypical behaviors), in addition, a training program based on the ABLLS-R is developed. The findings reveal statistically significant differences between the pre and post treatment of stereotypical behaviors among Jordanian children with ASD in favor of the post-treatment in terms of motor stereotypical behaviors and Routine stereotypical behaviors. The findings indicate that there is an impact and a direct effect on lessen stereotypical motor and routine behaviors among Children with ASD improvement rate (66.6%).

Lien vers le texte intégral (Open Access ou abonnement)

24. Rajalakshmi S, Ranjan R, Varghese NJ, Bharti A, Sinha M, Kumar P, Ahmad S. Sensory Reactivity Through the Lived Experiences of Parents of Children with Autism Spectrum Disorder: An Exploratory Phenomenological Qualitative Study. Indian J Psychol Med. 2024: 02537176241277545.

BACKGROUND: The current sensory assessment measures for autism spectrum disorder (ASD) have issues related to cultural and clinical applicability, which makes them difficult to apply in the Indian context consistently. The current study aimed to explore locally relevant themes for sensory reactivity in children with ASD. METHODS: This exploratory phenomenological qualitative study was carried out on 15 parents of children with ASD visiting the child guidance clinic. An in-depth interview (IDI) guide was prepared on the conceptual framework based on Dunn, as well as, Miller’s models, which was then further refined based upon the inputs from the experts (psychiatrists, child psychologists, speech-language pathologists, and occupational therapists) working with children with ASD. IDIs were conducted with parents of children with ASD. The data was recorded in audio and video format. It was transcribed and translated from Hindi to English. Coding was done manually, and themes were extracted. RESULTS: The findings identified four superordinate themes: sensory hyperreactivity, sensory hyporeactivity, sensory seeking, and socio-emotional response. CONCLUSION: The lived experience of parents aids in identifying and describing dimensions of sensory reactivity in children with ASD. It will help further in developing a valid and reliable instrument for the assessment of sensory reactivity in children with ASD.

Lien vers le texte intégral (Open Access ou abonnement)

25. Roberts TPL, Gaetz WC, Birnbaum C, Bloy L, Berman JI. Towards Biomarkers for Autism Spectrum Disorder: Contributions of Magnetoencephalography (MEG). Adv Neurobiol. 2024; 40: 455-89.

There is no simple blood test for autism. Consequently, much attention has been paid to identifying noninvasive biomarkers using imaging (e.g., Magnetic resonance imaging, MRI) and electrophysiological (e.g., electroencephalography, EEG and magnetoencephalography, MEG) methods. While, in general, these lack direct biological specificity, they can (in principle) provide a useful tool, or suite of tools, for diagnostic, prognostic, stratification, and response monitoring purposes.This chapter focuses on the pursuit of biomarkers using magnetoencephalography (MEG). While closely related to the more common electroencephalography (EEG), MEG offers some unique characteristics (such as improved spatial resolution, in combination with real-time temporal resolution and spectral discrimination), that might be considered impactful in the pursuit of biomarkers.Given the widely-acknowledged heterogeneity of ASD (« if you’ve seen one child with autism, then you’ve seen one child with autism »), the tide of research is perhaps shifting away from diagnostic biomarkers toward biomarkers that can help stratify patients according to some similarity in biological basis, etiology, or pathway. This approach, somewhat pragmatic, may be of benefit when designing and conducting clinical trials of putative therapeutics, or when optimally designing behavioral supports (when « therapy » may not be indicated).Ultimately, MEG-derived biomarkers, however advantageous in themselves, may likely find a place as reference in the prioritization and roll-out of candidate biomarkers established using other modalities, more accessible and available to the global community.

Lien vers le texte intégral (Open Access ou abonnement)

26. San José Cáceres A, Wilkinson E, Cooke J, Baskett V, Blackmore C, Crawley DV, Durkin A, Halpern D, Núñez M, Siper P, Murphy DG, Foss-Feig J, Kolevzon A, Loth E. Investigating social orienting in children with Phelan-McDermid syndrome and ‘idiopathic’ autism. J Neurodev Disord. 2024; 16(1): 64.

BACKGROUND: Phelan-McDermid syndrome (PMS) is a rare genetic syndrome characterized by developmental delay/intellectual disability, absent or delayed speech, physical dysmorphic features and high rates of autistic features. However, it is currently unknown whether people with PMS have similar neurocognitive atypicalities to those previously identified in idiopathic autism. Disruption in social orienting has previously been suggested as an early hallmark feature of idiopathic autism that impacts social learning and social interaction. METHODS: This study used a semi-naturalistic task to explore orienting to social versus non-social stimuli and its relation to clinical features in individuals diagnosed with PMS, autism, and neurotypical children recruited in the United States and the United Kingdom. RESULTS: At the group level, autistic and neurotypical children responded on average more often to social than non-social stimuli, while children with PMS responded similarly to both stimulus types. Both clinical groups responded significantly less often to social stimuli than neurotypical children. In addition, we found considerable variability in orienting responses within each group that were of clinical relevance. In the autism group, non-social orienting was associated with mental age, while in the PMS group social and non-social orienting were related to strength of autistic features. CONCLUSIONS: These findings do not support specific social motivation difficulties in either clinical group. Instead, they highlight the importance of exploring individual differences in orienting responses in Phelan-McDermid Syndrome in relation to autistic features. TRIAL REGISTRATION: NA.

Lien vers le texte intégral (Open Access ou abonnement)

27. Tarzi G, Thakur A, Bobbette N, Pilatzke M, Lefkowitz G, Thomson K, Thatcher A, Hasan S, Fogle A, Blake M, Hines A, Lunsky Y. Evaluation of an Interprofessional Educational Intervention in Mental Health and Intellectual and Developmental Disability for Health and Social Service Trainees. Acad Psychiatry. 2024.

OBJECTIVE: Adults with intellectual and developmental disabilities (IDD) experience high rates of poor mental health and challenges accessing timely and high-quality services. There is limited interprofessional training on mental health care for this population. METHODS: A virtual, synchronous program based on the Project Extension for Community Healthcare Outcomes (ECHO) Ontario IDD Mental Health program was developed for health and social service trainees. Participants represented 10 disciplines across 12 Canadian university or college programs. The program was taught by a team of health and social service providers together with individuals with lived experience and included didactics and case-based discussions. Program evaluation utilized a pre-, post-, and 12-week follow-up survey design with feedback surveys following each session. RESULTS: Fifty participants registered for the program; 34 (68%) completed baseline measures and attended at least two sessions. Overall, participants reported high session satisfaction (average rating of 4.47 of 5). Participants demonstrated significant improvement in self-efficacy regarding communication (p < 0.001), management of mental health needs (p < 0.001), and working across systems (p < 0.001). Participants self-reported feeling more knowledgeable about common comorbidities (p < 0.001), assessing behavioral challenges (p < 0.001), the role of interdisciplinary professionals (p < 0.001), and community resources (p < 0.001). Improvements were maintained at follow-up across outcomes. CONCLUSION: The pilot Project ECHO for health and social service trainees in adult IDD mental health demonstrated high participant satisfaction and positive impact on trainees' self-efficacy and knowledge. Interprofessional educational interventions can be effectively implemented using virtual technology to teach about other mental health populations requiring multisector care.

Lien vers le texte intégral (Open Access ou abonnement)

28. Tavella A, Uhlhaas PJ. Magnetoencephalography in Psychiatry: A Perspective on Translational Research and Applications. Adv Neurobiol. 2024; 40: 143-56.

Magnetoencephalography (MEG) is a neuroimaging technique that has excellent temporal as well as good spatial resolution for measuring neural activity and has been extensively employed in cognitive neuroscience. However, MEG has only been more recently applied to investigations of brain networks and biomarkers in psychiatry. Besides providing new insights into the pathophysiology of major psychiatry syndromes, especially in schizophrenia, a major objective of current research is the identification of biomarkers that could inform early intervention and novel treatments. This chapter will provide a state-of-the-art overview of MEG as applied to schizophrenia, autism spectrum disorders, and Alzheimer’s disease, summarizing methodological approaches and studies investigating alterations during resting-state and task-related paradigms. In addition, we will highlight future methodological developments and their potential for applications of MEG in psychiatry.

Lien vers le texte intégral (Open Access ou abonnement)

29. Wang XN, Zhang T, Han BC, Luo WW, Liu WH, Yang ZY, Disi A, Sun Y, Yang JC. Wearable EEG Neurofeedback Based-on Machine Learning Algorithms for Children with Autism: A Randomized, Placebo-controlled Study. Curr Med Sci. 2024.

OBJECTIVE: Behavioral interventions have been shown to ameliorate the electroencephalogram (EEG) dynamics underlying the behavioral symptoms of autism spectrum disorder (ASD), while studies have also demonstrated that mirror neuron mu rhythm-based EEG neurofeedback training improves the behavioral functioning of individuals with ASD. This study aimed to test the effects of a wearable mu rhythm neurofeedback training system based on machine learning algorithms for children with autism. METHODS: A randomized, placebo-controlled study was carried out on 60 participants aged 3 to 6 years who were diagnosed with autism, at two center-based intervention sites. The neurofeedback group received active mu rhythm neurofeedback training, while the control group received a sham neurofeedback training. Other behavioral intervention programs were similar between the two groups. RESULTS: After 60 sessions of treatment, both groups showed significant improvements in several domains including language, social and problem behavior. The neurofeedback group showed significantly greater improvements in expressive language (P=0.013) and cognitive awareness (including joint attention, P=0.003) than did the placebo-controlled group. CONCLUSION: Artificial intelligence-powered wearable EEG neurofeedback, as a type of brain-computer interface application, is a promising assistive technology that can provide targeted intervention for the core brain mechanisms underlying ASD symptoms.

Lien vers le texte intégral (Open Access ou abonnement)