1. Alarifi H, Aldhalaan H, Hadjikhani N, Johnels J, Alarifi J, Ascenso G, Alabdulaziz R. Machine learning for distinguishing saudi children with and without autism via eye-tracking data. Child and adolescent psychiatry and mental health. 2023; 17(1): 112.

BACKGROUND: Despite the prevalence of Autism Spectrum Disorder (ASD) globally, there’s a knowledge gap pertaining to autism in Arabic nations. Recognizing the need for validated biomarkers for ASD, our study leverages eye-tracking technology to understand gaze patterns associated with ASD, focusing on joint attention (JA) and atypical gaze patterns during face perception. While previous studies typically evaluate a single eye-tracking metric, our research combines multiple metrics to capture the multidimensional nature of autism, focusing on dwell times on eyes, left facial side, and joint attention. METHODS: We recorded data from 104 participants (41 neurotypical, mean age: 8.21 ± 4.12 years; 63 with ASD, mean age 8 ± 3.89 years). The data collection consisted of a series of visual stimuli of cartoon faces of humans and animals, presented to the participants in a controlled environment. During each stimulus, the eye movements of the participants were recorded and analyzed, extracting metrics such as time to first fixation and dwell time. We then used these data to train a number of machine learning classification algorithms, to determine if these biomarkers can be used to diagnose ASD. RESULTS: We found no significant difference in eye-dwell time between autistic and control groups on human or animal eyes. However, autistic individuals focused less on the left side of both human and animal faces, indicating reduced left visual field (LVF) bias. They also showed slower response times and shorter dwell times on congruent objects during joint attention (JA) tasks, indicating diminished reflexive joint attention. No significant difference was found in time spent on incongruent objects during JA tasks. These results suggest potential eye-tracking biomarkers for autism. The best-performing algorithm was the random forest one, which achieved accuracy = 0.76 ± 0.08, precision = 0.78 ± 0.13, recall = 0.84 ± 0.07, and F1 = 0.80 ± 0.09. CONCLUSIONS: Although the autism group displayed notable differences in reflexive joint attention and left visual field bias, the dwell time on eyes was not significantly different. Nevertheless, the machine algorithm model trained on these data proved effective at diagnosing ASD, showing the potential of these biomarkers. Our study shows promising results and opens up potential for further exploration in this under-researched geographical context.

Lien vers le texte intégral (Open Access ou abonnement)

2. Chen YR, Ng DY, Tseng MH, Bundy A, Cordier R. The impact of coping behaviors on perceived competence and social anxiety in the everyday social engagement of autistic adolescents. Autism : the international journal of research and practice. 2023: 13623613231196773.

Individuals who cope well with challenges may engage in social situations more successfully. We examined how well autistic adolescents coped, depending on how competent they felt and how much anxiety they experienced during social activities. We included 133 individuals (82 autistic, 51 neurotypical) between the ages of 10 and 16 years. Participants carried a mobile device that prompted them seven times a day for 7 days to record what they were doing, how competent they felt and how much anxiety they experienced. We used the Coping Inventory to understand how well participants coped with environmental challenges and met their needs for growth. Autistic adolescents were more likely than neurotypical peers to feel anxious while doing activities with adults. Autistic adolescents who had more difficulty coping with challenges were more likely to feel anxious when doing leisure activities with peers. Interestingly, autistic adolescents who coped better with challenges tended to feel less competent in social situations. However, those better able to meet their needs for growth tended to perceive their social competence positively. These findings can help practitioners develop strategies and programs to reduce the negative social experiences of autistic adolescents by helping them cope better.

Lien vers le texte intégral (Open Access ou abonnement)

3. Crowson S, Poole D, Scargill K, Freeth M. Understanding the post-diagnostic support priorities of autistic adults in the United Kingdom: A co-produced modified Delphi study. Autism : the international journal of research and practice. 2023: 13623613231196805.

Autistic adults in the United Kingdom report that support for themselves and their peers is not suitable for their needs. There has been an increase in adults receiving an autism diagnosis, which many have reported as having a positive impact on their lives. However, the lack of support and understanding after diagnosis, combined with long wait times for an assessment to obtain a diagnosis and to access follow-on support, is having a negative impact on people’s lives. This study took place to find out what support autistic people need and want after receiving their diagnosis. It was co-designed with a group of 10 autistic adults which means that the researchers and group members collaboratively designed the research. For the study, 43 autistic adults, diagnosed aged 18 or older, completed three questionnaires. A fourth questionnaire followed that was completed by 139 autistic people who received their diagnosis in adulthood. These questionnaires aimed to help people identify their own priorities when it came to the support they would have liked to receive after being given their autism diagnosis. Participants ranked access to support where they live, training of professionals, support to process the impact of a late diagnosis, use of their preferred mode of contact and a personalised support plan as their top priorities. This demonstrates that local support is highly valued by autistic adults, as are well-trained professionals who offer a range of contact options, support to process a late-in-life autism diagnosis and help to develop and implement support plans.

Lien vers le texte intégral (Open Access ou abonnement)

4. Hasib RA, Ali MC, Rahman MH, Ahmed S, Sultana S, Summa SZ, Shimu MSS, Afrin Z, Jamal M. Integrated gene expression profiling and functional enrichment analyses to discover biomarkers and pathways associated with Guillain-Barré syndrome and autism spectrum disorder to identify new therapeutic targets. Journal of biomolecular structure & dynamics. 2023: 1-23.

Guillain-Barré syndrome (GBS) is one of the most prominent and acute immune-mediated peripheral neuropathy, while autism spectrum disorders (ASD) are a group of heterogeneous neurodevelopmental disorders. The complete mechanism regarding the neuropathophysiology of these disorders is still ambiguous. Even after recent breakthroughs in molecular biology, the link between GBS and ASD remains a mystery. Therefore, we have implemented well-established bioinformatic techniques to identify potential biomarkers and drug candidates for GBS and ASD. 17 common differentially expressed genes (DEGs) were identified for these two disorders, which later guided the rest of the research. Common genes identified the protein-protein interaction (PPI) network and pathways associated with both disorders. Based on the PPI network, the constructed hub gene and module analysis network determined two common DEGs, namely CXCL9 and CXCL10, which are vital in predicting the top drug candidates. Furthermore, coregulatory networks of TF-gene and TF-miRNA were built to detect the regulatory biomolecules. Among drug candidates, imatinib had the highest docking and MM-GBSA score with the well-known chemokine receptor CXCR3 and remained stable during the 100 ns molecular dynamics simulation validated by the principal component analysis and the dynamic cross-correlation map. This study predicted the gene-based disease network for GBS and ASD and suggested prospective drug candidates. However, more in-depth research is required for clinical validation.Communicated by Ramaswamy H. Sarma. 17 common differentially expressed genes (DEGs) were identified from 693 DEGs of the GBS dataset (GSE72748) and 365 DEGs of the ASD dataset (GSE113834), which is the preliminary part of this investigation.From the PPI network analysis, a total of 10 hub genes were identified and two common DEGs named CXCL9 and CXCL10 were found in both the hub gene and essential module analysis.The identified leading pathways and GO pathways, TF-gene interaction, and TF-miRNAs network has made the process more relevant and appropriate for suggesting probable drug candidates.Among the drug candidates, imatinib was suggested as the main drug candidate due to its interaction with the hub gene CXCL9 and CXCL10 and lower p value than the other candidates. It showed the highest binding affinity score and remained stable with the CXCR3 chemokine receptor. eng.

Lien vers le texte intégral (Open Access ou abonnement)

5. Huyst V, Dewinter J, Noens I, Platteau T, Tsoumanis A. Measuring the prevalence of autistic traits in a cohort of adults living with HIV or taking HIV pre-exposure prophylaxis and mapping safer-sex barriers and facilitators: a study protocol. BMJ open. 2023; 13(9): e075667.

INTRODUCTION: Autistic individuals identify with a wider range of sexual orientations than non-autistic individuals, including higher rates of bisexual orientation in autistic men. Gay, bisexual and other men who have sex with men are at greater risk for HIV. Prevalence data of autistic traits in people living with HIV or using Pre-Exposure Prophylaxis (PrEP) for HIV are lacking so far. Such data, combined with insights in barriers and facilitators for safer sex in autistic people living with HIV or using PrEP, are a first step to improve health support for autistic people in HIV clinics. This support is crucial since autistic individuals have worse physical and mental health outcomes. The objective of this research is to determine the prevalence of autistic traits within the group of people living with HIV or using PrEP in Belgium and to describe specific facilitators and barriers for sexual safer behaviour in people living with HIV and PrEP users with autistic traits. METHODS AND ANALYSIS: The research is a cross-sectional, observational and multicentre study with recruitment of individual participants. The research consists of two phases. In phase 1, adults coming for HIV/AIDS care or HIV PrEP in participating Belgian HIV Reference Centres will be invited to fill in the validated Autism Spectrum Quotient questionnaire. In phase 2, participants with a score above the predefined cut-off for autistic traits (>26), who agreed to be informed about this score, will be invited to complete an additional survey, inquiring facilitators and barriers for sexual safer behaviour. ETHICS AND DISSEMINATION OF RESULTS: Institutional Review Board Institute of Tropical Medicine Antwerp, 25 July 2022, REF 1601/22 and University Hospital of Antwerp, 12 September 2022, Project ID 3679: BUN B3002022000111. Study results will be published in peer-reviewed journals and presented to Belgian HIV Reference Centres and at conferences.

Lien vers le texte intégral (Open Access ou abonnement)

6. Kahveci G, Caylak E, Kara DN. The effect of the home environment on children with autism spectrum disorder. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience. 2023.

The estimated prevalence of autism spectrum disorders (ASD) is 1% worldwide. Autistic individuals typically have a high level of sensitivity to the various environmental stimuli (smell, noise, light). These stimuli have a positive or negative influence on the person-environment interaction, and an excess of stimuli may create inappropriate or unanticipated behavioral responses (such as a crisis) effecting their well-being. The Model of Competence, which provides an explanation of the interaction between the individual and the environment, was selected as the conceptual framework to direct this study. The purpose of this study is to investigate the opinions and experiences of mothers regarding the influence of the characteristics of the home environment on autistic individuals. A qualitative interpretative description design was utilized for this study’s framework. Participants in the study were mothers who have autistic children. The study with focus groups was continued until data saturation was reached. There was a thematic investigation carried out. The findings show that the factors that have an effect on autistic individuals can be categorized into several subsets like sensory, routines, and physical environment. Despite the fact that the home setting is often a secure and consistent environment, these aspects were identified as crucial. Consequently, one should give some thought to the consequences that this could have in other settings where it would be harder to exercise control. The identification of these factors and the impact they have enables a better understanding of the interaction between an autistic individual and their environment and serves to guide professionals in their interventions.

Lien vers le texte intégral (Open Access ou abonnement)

7. Khoury ES, Patel RV, O’Ferrall C, Fowler A, Sah N, Sharma A, Gupta S, Scafidi S, Kurtz JS, Olmstead SJ, Kudchadkar SR, Kannan RM, Blue ME, Kannan S. Dendrimer nanotherapy targeting of glial dysfunction improves inflammation and neurobehavioral phenotype in adult female Mecp2-heterozygous mouse model of Rett syndrome. Journal of neurochemistry. 2023.

Rett syndrome is an X-linked neurodevelopmental disorder caused by mutation of Mecp2 gene and primarily affects females. Glial cell dysfunction has been implicated in in Rett syndrome (RTT) both in patients and in mouse models of this disorder and can affect synaptogenesis, glial metabolism and inflammation. Here we assessed whether treatment of adult (5-6 months old) symptomatic Mecp2-heterozygous female mice with N-acetyl cysteine conjugated to dendrimer (D-NAC), which is known to target glia and modulate inflammation and oxidative injury, results in improved behavioral phenotype, sleep and glial inflammatory profile. We show that unbiased global metabolomic analysis of the hippocampus and striatum in adult Mecp2-heterozygous mice demonstrates significant differences in lipid metabolism associated with neuroinflammation, providing the rationale for targeting glial inflammation in this model. Our results demonstrate that treatment with D-NAC (10 mg/kg NAC) once weekly is more efficacious than equivalently dosed free NAC in improving the gross neurobehavioral phenotype in symptomatic Mecp2-heterozygous female mice. We also show that D-NAC therapy is significantly better than saline in ameliorating several aspects of the abnormal phenotype including paw clench, mobility, fear memory, REM sleep and epileptiform activity burden. Systemic D-NAC significantly improves microglial proinflammatory cytokine production and is associated with improvements in several aspects of the phenotype including paw clench, mobility, fear memory, and REM sleep, and epileptiform activity burden in comparison to saline-treated Mecp2-hetereozygous mice. Systemic glial-targeted delivery of D-NAC after symptom onset in an older clinically relevant Rett syndrome model shows promise in improving neurobehavioral impairments along with sleep pattern and epileptiform activity burden. These findings argue for the translational value of this approach for treatment of patients with Rett Syndrome.

Lien vers le texte intégral (Open Access ou abonnement)

8. Kul E, Stork O. Trehalose consumption ameliorates pathogenesis in an inducible mouse model of the Fragile X-associated tremor/ataxia syndrome. Nutritional neuroscience. 2023: 1-10.

Trehalose is a naturally occurring sugar found in various food and pharmaceutical preparations with the ability to enhance cellular proteostasis and reduce the formation of toxic intracellular protein aggregates, making it a promising therapeutic candidate for various neurodegenerative disorders. OBJECTIVES: Here, we explored the effectiveness of nutritional trehalose supplementation in ameliorating symptoms in a mouse model of Fragile X-associated tremor/ataxia syndrome (FXTAS), an incurable late onset manifestation of moderately expanded trinucleotide CGG repeat expansion mutations in the 5′ untranslated region of the fragile X messenger ribonucleoprotein 1 gene (FMR1). METHODS: An inducible mouse model of FXTAS expressing 90 CGG repeats in the brain had been previously developed, which faithfully captures hallmarks of the disorder, the formation of intracellular inclusions, and the disturbance of motor function. Taking advantage of the inducible nature of the model, we investigated the therapeutic potential of orally administered trehalose under two regimens, modelling disease prevention and disease treatment. RESULTS AND DISCUSSION: Trehalose’s effectiveness in combating protein aggregation is frequently attributed to its ability to induce autophagy. Accordingly, trehalose supplementation under the prevention regimen ameliorated the formation of intranuclear inclusions and improved the motor deficiencies resulting from the induced expression of 90 CGG repeats, but it failed to reverse the existing nuclear pathology as a treatment strategy. Given the favorable safety profile of trehalose, it is promising to further explore the potential of this agent for early stage FXTAS.

Lien vers le texte intégral (Open Access ou abonnement)

9. Neuhaus E, Santhosh M, Kresse A, Aylward E, Bernier R, Bookheimer S, Jeste S, Jack A, McPartland JC, Naples A, Van Horn JD, Pelphrey K, Webb SJ. Frontal EEG alpha asymmetry in youth with autism: Sex differences and social-emotional correlates. Autism research : official journal of the International Society for Autism Research. 2023.

In youth broadly, EEG frontal alpha asymmetry (FAA) associates with affective style and vulnerability to psychopathology, with relatively stronger right activity predicting risk for internalizing and externalizing behaviors. In autistic youth, FAA has been related to ASD diagnostic features and to internalizing symptoms. Among our large, rigorously characterized, sex-balanced participant group, we attempted to replicate findings suggestive of altered FAA in youth with an ASD diagnosis, examining group differences and impact of sex assigned at birth. Second, we examined relations between FAA and behavioral variables (ASD features, internalizing, and externalizing) within autistic youth, examining effects by sex. Third, we explored whether the relation between FAA, autism features, and mental health was informed by maternal depression history. In our sample, FAA did not differ by diagnosis, age, or sex. However, youth with ASD had lower total frontal alpha power than youth without ASD. For autistic females, FAA and bilateral frontal alpha power correlated with social communication features, but not with internalizing or externalizing symptoms. For autistic males, EEG markers correlated with social communication features, and with externalizing behaviors. Exploratory analyses by sex revealed further associations between youth FAA, behavioral indices, and maternal depression history. In summary, findings suggest that individual differences in FAA may correspond to social-emotional and mental health behaviors, with different patterns of association for females and males with ASD. Longitudinal consideration of individual differences across levels of analysis (e.g., biomarkers, family factors, and environmental influences) will be essential to parsing out models of risk and resilience among autistic youth.

Lien vers le texte intégral (Open Access ou abonnement)

10. Radhoe TA, van Rentergem JAA, Torenvliet C, Groenman AP, van der Putten WJ, Geurts HM. Comparison of network structures between autistic and non-autistic adults, and autism subgroups: A focus on demographic, psychological, and lifestyle factors. Autism : the international journal of research and practice. 2023: 13623613231198544.

There are large differences in the level of demographic, psychological, and lifestyle characteristics between autistic and non-autistic adults but also among autistic people. Our goal was to test whether these differences correspond to differences in underlying relationships between these characteristics-also referred to as network structure-to determine which characteristics (and relationships between them) are important. We tested differences in network structure in (1) autistic and non-autistic adults and (2) two previously identified subgroups of autistic adults. We showed that comparing networks of autistic and non-autistic adults provides subtle differences, whereas networks of the autism subgroups were similar. There were also no sex differences in the networks of the autism subgroups. Thus, the previously observed differences in the level of characteristics did not correspond to differences across subgroups in how these characteristics relate to one another (i.e. network structure). Consequently, a focus on differences in characteristics is not sufficient to determine which characteristics (and relationships between them) are of importance. Hence, network analysis provides a valuable tool beyond looking at (sub)group level differences. These results could provide hints for clinical practice, to eventually determine whether psychological distress, cognitive failures, and reduced quality of life in autistic adults can be addressed by tailored support. However, it is important that these results are first replicated before we move toward intervention or support.

Lien vers le texte intégral (Open Access ou abonnement)

11. Rapaport H, Clapham H, Adams J, Lawson W, Porayska-Pomsta K, Pellicano E. ‘I live in extremes’: A qualitative investigation of Autistic adults’ experiences of inertial rest and motion. Autism : the international journal of research and practice. 2023: 13623613231198916.

‘Autistic inertia’ is a term used by Autistic people to refer to difficulties with starting and stopping tasks. However, there has not been much research on Autistic inertia. The research that is available on Autistic inertia has mostly focused on the negative aspects of inertia, rather than on the possible benefits of needing to continue tasks. In this research, we wanted to understand more about Autistic people’s experiences of inertia and to work out what things might influence these experiences. Autistic and non-Autistic researchers spoke in-depth to 24 Autistic adults. We identified four key ideas from people’s responses. Autistic people spoke about their inertial ‘difficulties moving from one state to another’ and described how these challenges affected them ‘every single day’. While they experienced inertia as ‘the single most disabling part of being Autistic’, people also described the positive aspects of inertia, including the joy they felt when completely immersed in a task. Our Autistic participants emphasised that inertial difficulties are experienced by everyone, the intensity of these task-switching difficulties might be especially challenging for Autistic people. Our findings also reveal how Autistic inertia can be seen both as a disabling and as an enabling condition.

Lien vers le texte intégral (Open Access ou abonnement)