1. Arenella M, Matuleviciute R, Tamouza R, Leboyer M, McAlonan G, Bralten J, Murphy D. Immunogenetics of autism spectrum disorder: A systematic literature review. Brain, behavior, and immunity. 2023.

The aetiology of autism spectrum disorder (ASD) is complex and, partly, accounted by genetic factors. Nonetheless, the genetic underpinnings of ASD are poorly defined. The presence of immune dysregulations in autistic individuals, and their families, supports a role of the immune system and its genetic regulators. Albeit immune responses belong either to the innate or adaptive arms, the overall immune system genetics is broad, and encompasses a multitude of functionally heterogenous pathways which may have different influences on ASD. Hence, to gain insights on the immunogenetic underpinnings of ASD, we conducted a systematic literature review of previous immune genetic and transcription studies in ASD. We defined a list of immune genes relevant to ASD and explored their neuro-immune function. Our review confirms the presence of immunogenetic variability in ASD, accounted by inherited variations of innate and adaptive immune system genes and genetic expression changes in the blood and post-mortem brain of autistic individuals. Besides their immune function, the identified genes control neurodevelopment processes (neuronal and synaptic plasticity) and are highly expressed in pre/peri-natal periods. Hence, our synthesis bolsters the hypothesis that perturbation in immune genes may contribute to ASD by derailing the typical trajectory of neurodevelopment. Our review also helped identifying some of the limitations of prior immunogenetic research in ASD. Thus, alongside clarifying the neurodevelopment role of immune genes, we outline key considerations for future work into the aetiology of ASD and possible novel intervention targets.

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2. Arya Y, Mishra D, Juneja M, Gupta A. Factors Affecting Quality of Life in Adolescent Siblings of Children With Autism Spectrum Disorder. Indian pediatrics. 2023; 60(9): 739-43.

OBJECTIVE: To compare the quality of life (QoL) of adolescent siblings of children with autism spectrum disorder (ASD-Sibs) with siblings of typically developing children (TD-Sibs), and study the factors affecting the QoL. METHODS: Between 1 February, 2021 and 31 September, 2021, 40 children aged 10-18 years, whose sibling was suffering from ASD, were enrolled (Study group). 40 age- and sex-matched siblings of children with no clinically apparent neuro- developmental abnormality or behavioral problem were also enrolled (Control group). Severity of autism was assessed by using the childhood autism rating scale 2 (CARS-2) score. QoL was assessed by a validated version of the World Health Organi-zation Quality of Life questionnaire Brief version (WHO QoL BREF), and compared between cases and controls using Wilcoxon rank sum test. RESULTS: The mean (SD) age of study participants was 13.55 (2.75) years. The mean (SD) CARS-2 score of our sample was 35.78 (5.23). Mild to moderate autism was seen in 23 (57.5%) children, and 13 (32.5%) had severe autism. The median (IQR) QoL in ASD-Sibs was worse than TD-Sibs in physical domain (24 (19,26) vs 32 (29,32); P<0.001), psychological domain (22 (17,23) vs 25 (23,25); P<0.001), social domain (11 (8,12) vs 13 (11,14); P<0.001), and environmental domain (28 (26,31) vs 35 (31,35); P<0.001). Among the ASD-Sibs, severity of the sibling's ASD and the family's socioeconomic status were the only two factors significantly affecting one of the domains of QoL. CONCLUSION: The observed lower QoL score in adolescent siblings of children with ASD, more so in those whose siblings had more severe ASD, suggests the need for targeting the family as a unit while formulating plans for holistic management of children with ASD.

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3. Bhandari R, Varma M, Rana P, Dhingra N, Kuhad A. Taurine as a potential therapeutic agent interacting with multiple signaling pathways implicated in autism spectrum disorder (ASD): An in-silico analysis. IBRO neuroscience reports. 2023; 15: 170-7.

Autism spectrum disorders (ASD) are a complex sequelae of neurodevelopmental disorders which manifest in the form of communication and social deficits. Currently, only two agents, namely risperidone and aripiprazole have been approved for the treatment of ASD, and there is a dearth of more drugs for the disorder. The exact pathophysiology of autism is not understood clearly, but research has implicated multiple pathways at different points in the neuronal circuitry, suggesting their role in ASD. Among these, the role played by neuroinflammatory cascades like the NF-KB and Nrf2 pathways, and the excitotoxic glutamatergic system, are said to have a bearing on the development of ASD. Similarly, the GPR40 receptor, present in both the gut and the blood brain barrier, has also been said to be involved in the disorder. Consequently, molecules which can act by interacting with one or multiple of these targets might have a potential in the therapy of the disorder, and for this reason, this study was designed to assess the binding affinity of taurine, a naturally-occurring amino acid, with these target molecules. The same was scored against these targets using in-silico docking studies, with Risperidone and Aripiprazole being used as standard comparators. Encouraging docking scores were obtained for taurine across all the selected targets, indicating promising target interaction. But the affinity for targets actually varied in the order NRF-KEAP > NF-κB > NMDA > Calcium channel > GPR 40. Given the potential implication of these targets in the pathogenesis of ASD, the drug might show promising results in the therapy of the disorder if subjected to further evaluations.

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4. Geelhand P, Papastamou F, Belenger M, Clin E, Hickman L, Keating CT, Sowden S. Autism-Related Language Preferences of French-Speaking Autistic Adults: An Online Survey. Autism in adulthood : challenges and management. 2023; 5(3): 275-88.

BACKGROUND: In recent years, there have been increasing discussions surrounding the appropriate terminology to talk about autism. Initially, this debate revolved around the use of person-first language (e.g., person with autism) versus identity-first language (IFL; e.g., autistic person) but has recently expanded to other autism-related terms (e.g., deficits). However, to date, studies investigating autism-related language preferences have been limited to English-speaking countries, and little is known about preferences in other languages. This study addresses this gap by investigating the language preferences of French-speaking autistic adults. METHODS: Five hundred and forty-one French-speaking autistic adults (formal diagnosis and self-identified) completed an online survey where they selected terms they preferred to use to talk about: (1) the nomenclature of autism; (2) an autistic person; (3) someone’s autistic identity; (4) autism more broadly; (5) the abilities of autistic people; and (6) people without a diagnosis of autism. Participants also revealed more about their language preferences via an open-text response. RESULTS: The most preferred terms were « Autisme, » « Personne autiste, » « Autiste, » « Est Autiste, » « Différence neurologique/cérébrale, » « Différences, » « Difficultés, » « Personne neurotypique, » « Neurotypique, » and « Personne non-autiste. » To better understand these preferences, participants’ open comments were analyzed, revealing further support for IFL and the social model of disability, and a preference for simple, precise, and validated terms. CONCLUSIONS: These results are consistent with autism terminology preferences in English-speaking countries and provide additional insight into the reasons underlying these preferences. Such work has implications for informing the language of researchers, clinicians, and other professionals in the field, as well as the general public. COMMUNITY BRIEF: Why is this an important issue?: More and more research is investigating which words should be used to talk about autism. Initially, this discussion revolved around the use of person-first language (e.g., person with autism) versus identity-first language (e.g., autistic person) but has recently expanded to other autism-related terms (e.g., disorder, deficits, high-functioning autism). To date, all the studies on this topic have focused on language preferences in English-speaking countries, and little is known about preferences in other languages.What was the purpose of this study?: We wanted to know whether French-speaking autistic adults would show similar or different autism-related language preferences than English-speaking autistic individuals. We also wanted to know the reasons for these language preferences.What did the researchers do?: In an online survey, we asked 541 French-speaking autistic adults around the world what terms they prefer to use to talk about (1) the nomenclature of autism, (2) an autistic person, (3) someone’s autistic identity, (4) autism more broadly, (5) the abilities of autistic people, and (6) someone without an autism diagnosis. Participants also had the opportunity to tell us more about their language preferences in an open comment.What were the results of this study?: The most preferred terms were “Autisme,” “Personne autiste,” “Autiste,” “Est Autiste,” “Différence/neurologique,” “Différences,” “Difficultés,” “Personne neurotypique,” “Neurotypique,” and “Personne non autiste.” To better understand the reasons underlying these preferences, participants’ open comments were analyzed, revealing further support for identity-first language and the social model of disability, and a preference for simple, precise, and validated terms. WHAT DO THESE FINDINGS ADD TO WHAT WAS ALREADY KNOWN? We previously knew about language preferences of English-speaking autistic people. This study extends these findings by showing that French-speaking autistic adults also prefer terms that reflect the ideas of identity-first language (e.g., “Est Autiste,” “Personne autiste”) and the social model of disability (e.g., “Différence,” “Handicap”). We also show that these are not the only reasons behind language preferences: Term simplicity, precision, and validity are also important when talking about autism.What are the potential weaknesses in the study?: The reported preferences are not representative of all autistic individuals, as our sample did not include children and adolescents. In addition, we did not make specific adaptations to our questionnaire for non-speaking people or people with intellectual difficulties, so we do not know to what extent their opinions are represented in our data. Further, recruitment was done almost exclusively online, resulting in a self-selecting recruitment method for our sample (i.e., participants who have access to Internet and a computer). Finally, participants who responded to the advertisements and completed the questionnaire are probably interested in the debate regarding language to talk about autism. Therefore, our sample may be more representative of the online autistic, pro-neurodiversity community.How will these findings help autistic adults now or in the future?: This study is the first to look at the language preferences of French-speaking autistic adults. Further, our results have substantial implications for informing the language of researchers, clinicians, and other professionals in the field, as well as the general public. eng.

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5. Genovese D, Quatrosi G. Considering the Family of Autistic Individuals – The Hidden Struggles of Non-Autistic Siblings. Indian pediatrics. 2023; 60(9): 705-6.

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6. Gignac GG, Palermo R, Bothe E, Walker D, Wilmer JB. EXPRESS: Face Perception and Facial Emotional Expression Recognition Ability: Both Unique Predictors of the Broader Autism Phenotype. Quarterly journal of experimental psychology (2006). 2023: 17470218231203679.

Autism spectrum disorder (ASD) and the Broader Autistic Phenotype (BAP) have been suggested to be associated with perceptual-cognitive difficulties processing human faces. However, the empirical results are mixed, arguably, in part, due to inadequate samples and analyses. Consequently, we administered the Cambridge Face Perception Test (CFPT), the Reading the Mind in the Eyes Test (RMET), a vocabulary test, and the Autism Quotient (AQ) to a sample of 318 adults in the general community. Based on a disattenuated path analytic modeling strategy, we found that both face perception ability (β = -.21) and facial emotional expression recognition ability (β = -.27) predicted uniquely and significantly the Communication dimension of the AQ. Vocabulary failed to yield a significant, direct effect onto the Communication dimension of the AQ. We conclude that difficulties perceiving information from the faces of others may contribute to difficulties in nonverbal communication, as conceptualised and measured within the context of the BAP.

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7. Habib MZ, Elnahas EM, Aboul-Ela YM, Ebeid MA, Tarek M, Sadek DR, Negm EA, Abdelhakam DA, Aboul-Fotouh S. Risperidone impedes glutamate excitotoxicity in a valproic acid rat model of autism: Role of ADAR2 in AMPA GluA2 RNA editing. European journal of pharmacology. 2023; 955: 175916.

Several reports indicate a plausible role of calcium (Ca(2+)) permeable AMPA glutamate receptors (with RNA hypo-editing at the GluA2 Q/R site) and the subsequent excitotoxicity-mediated neuronal death in the pathogenesis of a wide array of neurological disorders including autism spectrum disorder (ASD). This study was designed to examine the effects of chronic risperidone treatment on the expression of adenosine deaminase acting on RNA 2 (Adar2), the status of AMPA glutamate receptor GluA2 editing, and its effects on oxidative/nitrosative stress and excitotoxicity-mediated neuronal death in the prenatal valproic acid (VPA) rat model of ASD. Prenatal VPA exposure was associated with autistic-like behaviors accompanied by an increase in the apoptotic marker « caspase-3 » and a decrease in the antiapoptotic marker « BCL2 » alongside a reduction in the Adar2 relative gene expression and an increase in GluA2 Q:R ratio in the hippocampus and the prefrontal cortex. Risperidone, at doses of 1 and 3 mg, improved the VPA-induced behavioral deficits and enhanced the Adar2 relative gene expression and the subsequent GluA2 subunit editing. This was reflected on the cellular level where risperidone impeded VPA-induced oxidative/nitrosative stress and neurodegenerative changes. In conclusion, the present study confirms a possible role for Adar2 downregulation and the subsequent hypo-editing of the GluA2 subunit in the pathophysiology of the prenatal VPA rat model of autism and highlights the favorable effect of risperidone on reversing the RNA editing machinery deficits, giving insights into a new possible mechanism of risperidone in autism.

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8. Hernandez A, Delgado-González E, Durairaj RV, Reyes-Haro D, Martínez-Torres A, Espinosa F. Striatal synaptic changes and behavior in adult mouse upon prenatal exposure to valproic acid. Brain research. 2023; 1815: 148461.

Autism spectrum disorders (ASD) are a group of neurodevelopmental disorders characterized by persistent deficits in social communication and social interaction. Altered synaptogenesis and aberrant connectivity responsible for social behavior and communication have been reported in autism pathogenesis. Autism has a strong genetic and heritable component; however, environmental factors including toxins, pesticides, infection and in utero exposure to drugs such as VPA have also been implicated in ASD. Administration of VPA during pregnancy has been used as a rodent model to study pathophysiological mechanisms involved in ASD, and in this study, we used the mouse model of prenatal exposure to VPA to assess the effects on striatal and dorsal hippocampus function in adult mice. Alterations in repetitive behaviors and shift habits were observed in mice prenatally exposed to VPA. In particular, such mice presented a better performance in learned motor skills and cognitive deficits in Y-maze learning frequently associated with striatal and hippocampal function. These behavioral changes were associated with a decreased level of proteins involved in the formation and maintenance of excitatory synapses, such as Nlgn-1 and PSD-95. In conclusion, motor skill abilities, repetitive behaviors, and impaired flexibility to shift habits are associated with reduced striatal excitatory synaptic function in the adult mouse prenatally exposed to VPA.

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9. Hope S, Shadrin AA, Lin A, Bahrami S, Rødevand L, Frei O, Hübenette SJ, Cheng W, Hindley G, Nag H, Ulstein L, Efrim-Budisteanu M, O’Connell K, Dale AM, Djurovic S, Nærland T, Andreassen OA. Bidirectional genetic overlap between autism spectrum disorder and cognitive traits. Translational psychiatry. 2023; 13(1): 295.

Autism spectrum disorder (ASD) is a highly heritable condition with a large variation in cognitive function. Here we investigated the shared genetic architecture between cognitive traits (intelligence (INT) and educational attainment (EDU)), and risk loci jointly associated with ASD and the cognitive traits. We analyzed data from genome-wide association studies (GWAS) of INT (n = 269,867), EDU (n = 766,345) and ASD (cases n = 18,381, controls n = 27,969). We used the bivariate causal mixture model (MiXeR) to estimate the total number of shared genetic variants, local analysis of co-variant annotation (LAVA) to estimate local genetic correlations, conditional false discovery rate (cond/conjFDR) to identify specific overlapping loci. The MiXeR analyses showed that 12.7k genetic variants are associated with ASD, of which 12.0k variants are shared with EDU, and 11.1k are shared with INT with both positive and negative relationships within overlapping variants. The majority (59-68%) of estimated shared loci have concordant effect directions, with a positive, albeit modest, genetic correlation between ASD and EDU (r(g) = 0.21, p = 2e-13) and INT (r(g) = 0.22, p = 4e-12). We discovered 43 loci jointly associated with ASD and cognitive traits (conjFDR<0.05), of which 27 were novel for ASD. Functional analysis revealed significant differential expression of candidate genes in the cerebellum and frontal cortex. To conclude, we quantified the genetic architecture shared between ASD and cognitive traits, demonstrated mixed effect directions, and identified the associated genetic loci and molecular pathways. The findings suggest that common genetic risk factors for ASD can underlie both better and worse cognitive functioning across the ASD spectrum, with different underlying biology.

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10. Hughes J, Roberts R, Tarver J, Warters-Louth C, Zhang B, Southward E, Shaw R, Edwards G, Waite J, Pearson E. ‘It wasn’t the strategies on their own’: Exploring caregivers’ experiences of accessing services in the development of interventions for autistic people with intellectual disability. Autism : the international journal of research and practice. 2023: 13623613231196084.

Many autistic individuals with intellectual disability experience anxiety, and for those who use few or no words, anxiety may present as behaviour that challenges, such as self-injury and avoiding anxiety-provoking situations. Families report difficulty accessing support from services for autistic individuals experiencing anxiety. Moreover, once receiving support, effective interventions for autistic people with intellectual disability are limited. We completed individual and group discussions with 16 caregivers of autistic people with intellectual disability, to (a) explore their experiences of accessing services for anxiety and/or behaviour that challenges for their child; and (b) understand what matters to caregivers when developing interventions that have been designed for them and the autistic individual with intellectual disability that they support. Caregivers reported that services, in their experience, did not deliver the support that they expected, and that they often needed to ‘fight’ for support. Caregivers considered services and families working together, the inclusion of peer support, and families being offered interventions that are flexible to individual circumstances to be important. These considerations are valuable for clinicians and researchers developing interventions and aiming to improve outcomes for autistic people with intellectual disability and their families.

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11. King AP, Ali N, Bellcross C, Ehivet F, Hipp HS, Vaughn J, Allen EG. Healthcare Experiences of African American Women with the Fragile X Premutation. Journal of racial and ethnic health disparities. 2023.

This study aims to understand the healthcare experiences of African American women with a fragile X premutation (PM). PM carriers are at risk for fragile X-associated conditions, including primary ovarian insufficiency (FXPOI) and neuropsychiatric disorders (FXAND). There is no racial/ethnic association with carrying a PM, but African American women historically experience barriers receiving quality healthcare in the USA. Obstacles to care may increase mental health conditions like anxiety and depression. Eight African American women with a PM were interviewed to explore disparities in receiving healthcare and to learn about psychosocial experiences during and after their diagnoses. Interviews were transcribed verbatim and independently coded by two researchers. A deductive-inductive approach was used, followed by thematic analysis to determine prominent themes. The average participant age was 52.3 ± 8.60 years, with a mean age at premutation diagnosis of 31 ± 5.95 years. Seven participants had children with FXS. Themes from interviews included healthcare experiences, family dynamics, and emotional/mental health after their diagnosis. Participants reported concerns about not being taken seriously by providers and mistrust of the medical institutions. Within families, participants reported denial, insensitivity, and isolation. Participants reported a high incidence of anxiety and depression. Both are symptoms of FXAND and stresses of systemic racism and sexism. The reported family dynamics around the news of a genetic diagnosis stand apart from other racial cohorts in fragile X research: interventions like family counseling sessions and inclusive support opportunities from national organizations could ease the impacts of a PM for African American women.

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12. Pascual-Alonso A, Xiol C, Smirnov D, Kopajtich R, Prokisch H, Armstrong J. Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach. Human genomics. 2023; 17(1): 85.

BACKGROUND: Rett syndrome (RTT) is a neurodevelopmental disorder mainly caused by mutations in the methyl-CpG-binding protein 2 gene (MECP2). MeCP2 is a multi-functional protein involved in many cellular processes, but the mechanisms by which its dysfunction causes disease are not fully understood. The duplication of the MECP2 gene causes a distinct disorder called MECP2 duplication syndrome (MDS), highlighting the importance of tightly regulating its dosage for proper cellular function. Additionally, some patients with mutations in genes other than MECP2 exhibit phenotypic similarities with RTT, indicating that these genes may also play a role in similar cellular functions. The purpose of this study was to characterise the molecular alterations in patients with RTT in order to identify potential biomarkers or therapeutic targets for this disorder. METHODS: We used a combination of transcriptomics (RNAseq) and proteomics (TMT mass spectrometry) to characterise the expression patterns in fibroblast cell lines from 22 patients with RTT and detected mutation in MECP2, 15 patients with MDS, 12 patients with RTT-like phenotypes and 13 healthy controls. Transcriptomics and proteomics data were used to identify differentially expressed genes at both RNA and protein levels, which were further inspected via enrichment and upstream regulator analyses and compared to find shared features in patients with RTT. RESULTS: We identified molecular alterations in cellular functions and pathways that may contribute to the disease phenotype in patients with RTT, such as deregulated cytoskeletal components, vesicular transport elements, ribosomal subunits and mRNA processing machinery. We also compared RTT expression profiles with those of MDS seeking changes in opposite directions that could lead to the identification of MeCP2 direct targets. Some of the deregulated transcripts and proteins were consistently affected in patients with RTT-like phenotypes, revealing potentially relevant molecular processes in patients with overlapping traits and different genetic aetiology. CONCLUSIONS: The integration of data in a multi-omics analysis has helped to interpret the molecular consequences of MECP2 dysfunction, contributing to the characterisation of the molecular landscape in patients with RTT. The comparison with MDS provides knowledge of MeCP2 direct targets, whilst the correlation with RTT-like phenotypes highlights processes potentially contributing to the pathomechanism leading these disorders.

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13. Rasga C, Santos JX, Café C, Oliveira A, Duque F, Posada M, Nunes A, Oliveira G, Vicente AM. Prevalence of Autism Spectrum Disorder in the Centro region of Portugal: a population based study of school age children within the ASDEU project. Frontiers in psychiatry. 2023; 14: 1148184.

INTRODUCTION: Accurate prevalence estimates for Autism Spectrum Disorder (ASD) are fundamental to adequately program medical and educational resources for children. However, estimates vary globally and across Europe, and it is therefore wise to conduct epidemiological studies in defined geo-cultural contexts. METHODS: We used a population screening approach to estimate the prevalence of ASD in the Centro region of Portugal, using a harmonized protocol as part of the Autism Spectrum Disorders in the European Union (ASDEU) project. RESULTS: The overall prevalence was estimated at 0.5% (95% CI 0.3-0.7), higher in schools with Autism Units (3.3%, 95%CI 2.7-3.9) than in regular schools (0.3%, 95% CI 0.1-0.5) or schools with Multiple Disability Units (0.3%, 95% CI 0.04-0.6). DISCUSSION: The results indicate that the diagnosis of ASD is followed by the most effective educational policies in Centro Region. The variability in prevalence estimates across the different regions from the ASDEU project, and globally, is discussed.

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14. Ricciardelli P, Pintori N. Effect of race on Gaze Cueing in adults with high and low autistic traits. BMC psychology. 2023; 11(1): 275.

BACKGROUND: Observing the direction of gaze of another person leads to shifting of attention in the same direction (gaze-cueing effect – GCE), a social-cognitive ability known as joint or social attention. Racial attitudes can influence the magnitude of GCE since it has been shown that White people showing a strong race ingroup preference follow the gaze only of White, and not Black, faces. Individuals with high autistic traits have difficulties in social-cognitive abilities that can disrupt the learning of socially shared racial attitudes. Our aim was to investigate in White Italian adults whether individuals with higher autistic traits (measured by the Autism Spectrum Quotient) show reduced implicit racial bias (measured by the Implicit Association Test) and if this bias would lead to differences in the gaze cueing effect (GCE) triggered by gaze direction of faces of different races (measured by the Gaze Cueing Task). METHODS: In an online study, participants (N = 165; 132 females; Mean age = 22.9; SD = 4.76) filled in the Autism Spectrum Quotient (AQ) questionnaire, then performed a Gaze Cueing Task, followed and by an Implicit Association Test. RESULTS: Linear regression and linear mixed model analyses showed in the IAT task the presence of the same implicit ingroup bias for all participants, which was not predicted by the AQ score, while in the Gaze Cueing Task the GCE differed depending on the AQ score of the participants. Specifically, participants with low-medium, medium, and medium-high autistic traits (AQ = -1SD; AQ = mean; AQ =  + 1SD respectively) presented the GCE for both ingroup and outgroup cueing faces, whereas participants with high autistic traits (AQ =  + 2SD) only for ingroup faces. CONCLUSIONS: In White Italian adults the presence of an implicit ingroup bias seems to influence the GCE, but it is not always true that the individuals showing an implicit ingroup bias do not orient their attention in the direction of gaze of the outgroup individuals. Instead, the GCE seems to be modulated by the level of autistic traits. That is, individuals with higher autistic traits seem to prioritize joint attention with only their ingroup members.

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15. Ruan H, Eungpinichpong W, Wu H, Aonsri C. Effects of Parent-Delivered Traditional Thai Massage on Gait and Heart Rate Variability in Children with Autism: A Randomized Controlled Trial. Journal of integrative and complementary medicine. 2023.

Aim: To examine the effects of parent-delivered traditional Thai massage (TTM) intervention on heart rate variability (HRV) and gait in children with autism. Methods: This was a two-armed, randomized controlled trial conducted at the Haikou Special Education School in Haikou Province, China, between October 2021 and March 2022. A total of 48 children with autism, aged between 7 and 12 years, were selected from the school and randomly divided into either the parent-delivered TTM group or the control group (no intervention) in a 1:1 ratio. In addition to their regular daily school routines, the TTM group received 16 TTM interventions (twice a week), with each session lasting ∼50 min. HRV and gait parameters were measured at baseline, completion of the 8-week intervention, and 2 months follow-up. Results: The results of this study showed that the TTM intervention had a notable positive effect on HRV, with a significant reduction in low-frequency value (p = 0.001), and increased high-frequency value (p = 0.001), compared with the controls, and the advantages persisted during the follow-up period. However, only the stride length in the TTM group was significantly longer than that in the control group at the post-test (p = 0.039) and follow-up test (p = 0.043), while none of the other parameters of gait comparison showed statistical significance. Conclusions: Parent-delivered Thai massage increased HRV levels and stride length in comparison to the control group, and some effects of the intervention were maintained over the follow-up period. Clinical Trials Registry Identifier ChiCTR2100051355; September 21, 2021.

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16. Sandhu A, Rawat K, Gautam V, Sharma A, Kumar A, Saha L. Phosphodiesterase inhibitor, ibudilast alleviates core behavioral and biochemical deficits in the prenatal valproic acid exposure model of autism spectrum disorder. Brain research. 2023; 1815: 148443.

BACKGROUND: Autism spectrum disorder (ASD) is categorized as a neurodevelopmental disorder, presenting with a variety of aetiological and phenotypical features. Ibudilast is known to produce beneficial effects in several neurological disorders including neuropathic pain, multiple sclerosis, etc. by displaying its neuroprotective and anti-inflammatory properties. Here, in our study, the pharmacological outcome of ibudilast administration was investigated in the prenatal valproic acid (VPA)-model of ASD in Wistar rats. METHODS: Autistic-like symptoms were induced in Wistar male pups of dams administered with Valproic acid (VPA) on embryonic day 12.5. VPA-exposed male pups were administered with two doses of ibudilast (5 and10 mg/kg) and all the groups were evaluated for behavioral parameters like social interaction, spatial memory/learning, anxiety, locomotor activity, and nociceptive threshold. Further, the possible neuroprotective effect of ibudilast was evaluated by assessing oxidative stress, neuroinflammation (IL-1β, TNF-α, IL-6, IL-10) in the hippocampus, % area of Glial fibrillary acidic protein (GFAP)-positive cells and neuronal damage in the cerebellum. KEY FINDINGS: Treatment with ibudilast significantly attenuated prenatal VPA exposure associated social interaction and spatial learning/memory deficits, anxiety, hyperactivity, and increased nociceptive threshold, and it decreased oxidative stress markers, pro-inflammatory markers (IL-1β, TNF-α, IL-6), and % area of GFAP-positive cells and restored neuronal damage. CONCLUSIONS: Ibudilast treatment has restored crucial ASD-related behavioural abnormalities, potentially through neuroprotection. Therefore, benefits of ibudilast administration in animal models of ASD suggest that ibudilast may have therapeutic potential in the treatment of ASD.

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17. Sun Z, Yuan Y, Dong X, Liu Z, Cai K, Cheng W, Wu J, Qiao Z, Chen A. Supervised machine learning: A new method to predict the outcomes following exercise intervention in children with autism spectrum disorder. International journal of clinical and health psychology : IJCHP. 2023; 23(4): 100409.

The individual differences among children with autism spectrum disorder (ASD) may make it challenging to achieve comparable benefits from a specific exercise intervention program. A new method for predicting the possible outcomes and maximizing the benefits of exercise intervention for children with ASD needs further exploration. Using the mini-basketball training program (MBTP) studies to improve the symptom performance of children with ASD as an example, we used the supervised machine learning method to predict the possible intervention outcomes based on the individual differences of children with ASD, investigated and validated the efficacy of this method. In a long-term study, we included 41 ASD children who received the MBTP. Before the intervention, we collected their clinical information, behavioral factors, and brain structural indicators as candidate factors. To perform the regression and classification tasks, the random forest algorithm from the supervised machine learning method was selected, and the cross validation method was used to determine the reliability of the prediction results. The regression task was used to predict the social communication impairment outcome following the MBTP in children with ASD, and explainable variance was used to evaluate the predictive performance. The classification task was used to distinguish the core symptom outcome groups of ASD children, and predictive performance was assessed based on accuracy. We discovered that random forest models could predict the outcome of social communication impairment (average explained variance was 30.58%) and core symptom (average accuracy was 66.12%) following the MBTP, confirming that the supervised machine learning method can predict exercise intervention outcomes for children with ASD. Our findings provide a novel and reliable method for identifying ASD children most likely to benefit from a specific exercise intervention program in advance and a solid foundation for establishing a personalized exercise intervention program recommendation system for ASD children.

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18. Wright DC, Baluyot ML, Carmichael J, Darmanian A, Jose N, Ngo C, Heaps LS, Yendle A, Holman K, Ziso S, Khan F, Masi A, Silove N, Eapen V. Saliva DNA: An alternative biospecimen for single nucleotide polymorphism chromosomal microarray analysis in autism. American journal of medical genetics Part A. 2023.

Chromosomal microarray analysis (CMA) is typically performed for investigation of autism using blood DNA. However, blood collection poses significant challenges for autistic children with repetitive behaviors and sensory and communication issues, often necessitating physical restraint or sedation. Noninvasive saliva collection offers an alternative, however, no published studies to date have evaluated saliva DNA for CMA in autism. Furthermore, previous reports suggest that saliva is suboptimal for detecting copy number variation. We therefore aimed to evaluate saliva DNA for single nucleotide polymorphism (SNP) CMA in autistic children. Saliva DNA from 48 probands and parents (n = 133) was obtained with a mean concentration of 141.7 ng/μL. SNP CMA was successful in 131/133 (98.5%) patients from which we correlated the size and accuracy of a copy number variant(s) called between a proband and carrier parent, and for a subgroup (n = 17 probands) who had a previous CMA using blood sample. There were no discordant copy number variant results between the proband and carrier parent, or the subgroup, however, there was an acceptable mean size difference of 0.009 and 0.07 Mb, respectively. Our findings demonstrate that saliva DNA can be an alternative for SNP CMA in autism, which avoids blood collection with significant implications for clinical practice guidelines.

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