1. Baylisascaris procyonis Roundworm Infection in Child with Autism Spectrum Disorder, Washington, USA, 2022. The Pediatric infectious disease journal. 2023.

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2. Boccaccio FM, Platania GA, Guerrera CS, Varrasi S, Privitera CR, Caponnetto P, Pirrone C, Castellano S. Autism Spectrum Disorder: recommended psychodiagnostic tools for early diagnosis. Health psychology research. 2023; 11: 77357.

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3. Cao R, Zhang N, Yu H, Webster PJ, Paul LK, Li X, Lin C, Wang S. Comprehensive Social Trait Judgments From Faces in Autism Spectrum Disorder. Psychological science. 2023: 9567976231192236.

Processing social information from faces is difficult for individuals with autism spectrum disorder (ASD). However, it remains unclear whether individuals with ASD make high-level social trait judgments from faces in the same way as neurotypical individuals. Here, we comprehensively addressed this question using naturalistic face images and representatively sampled traits. Despite similar underlying dimensional structures across traits, online adult participants with self-reported ASD showed different judgments and reduced specificity within each trait compared with neurotypical individuals. Deep neural networks revealed that these group differences were driven by specific types of faces and differential utilization of features within a face. Our results were replicated in well-characterized in-lab participants and partially generalized to more controlled face images (a preregistered study). By investigating social trait judgments in a broader population, including individuals with neurodevelopmental variations, we found important theoretical implications for the fundamental dimensions, variations, and potential behavioral consequences of social cognition.

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4. Chari T, Hernandez A, Portera-Cailliau C. A novel head-fixed assay for social touch in mice uncovers aversive responses in two autism models. The Journal of neuroscience : the official journal of the Society for Neuroscience. 2023.

Social touch, an important aspect of social interaction and communication, is essential to kinship across animal species. How animals experience and respond to social touch has not been thoroughly investigated, in part due to the lack of appropriate assays. Previous studies that examined social touch in freely moving rodents lacked the necessary temporal and spatial control over individual touch interactions. We designed a novel head-fixed assay for social touch in mice, in which the experimenter has complete control to elicit highly stereotyped bouts of social touch between two animals. The user determines the number, duration, context, and type of social touch interactions, while monitoring an array of complex behavioral responses with high resolution cameras. We focused on social touch to the face because of its high translational relevance to humans. We validated this assay in two different models of autism spectrum disorder (ASD), the Fmr1 knockout (KO) model of Fragile X Syndrome and maternal immune activation mice. We observed higher rates of avoidance running, hyperarousal, and aversive facial expressions (AFEs) to social touch than to object touch, in both ASD models compared to controls. Fmr1 KO mice showed more AFEs to mice of the same sex but whether they were stranger or familiar mice mattered less. Because this new social touch assay for head-fixed mice can be used to record neural activity during repeated bouts of social touch it could be used to uncover underlying circuit differences.Significance StatementSocial touch is important for communication in animals and humans. However, it has not been extensively studied and current assays to measure animals’ responses to social touch have limitations. We present a novel head-fixed assay to quantify how mice respond to social facial touch with another mouse. We validated this assay in autism mouse models since autistic individuals exhibit differences in social interaction and touch sensitivity. We find that mouse models of autism exhibit more avoidance, hyperarousal, and aversive facial expressions to social touch compared to controls. Thus, this novel assay can be used to investigate behavioral responses to social touch and the underlying brain mechanisms in rodent models of neurodevelopmental conditions, and to evaluate therapeutic responses in preclinical studies.

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5. De Felice S, Hatilova A, Trojan F, Tsui I, Hamilton AFC. Autistic adults benefit from and enjoy learning via social interaction as much as neurotypical adults do. Molecular autism. 2023; 14(1): 33.

BACKGROUND: Autistic people show poor processing of social signals (i.e. about the social world). But how do they learn via social interaction? METHODS: 68 neurotypical adults and 60 autistic adults learned about obscure items (e.g. exotic animals) over Zoom (i) in a live video-call with the teacher, (ii) from a recorded learner-teacher interaction video and (iii) from a recorded teacher-alone video. Data were analysed via analysis of variance and multi-level regression models. RESULTS: Live teaching provided the most optimal learning condition, with no difference between groups. Enjoyment was the strongest predictor of learning: both groups enjoyed the live interaction significantly more than other condition and reported similar anxiety levels across conditions. LIMITATIONS: Some of the autistic participants were self-diagnosed-however, further analysis where these participants were excluded showed the same results. Recruiting participants over online platforms may have introduced bias in our sample. Future work should investigate learning in social contexts via diverse sources (e.g. schools). CONCLUSIONS: These findings advocate for a distinction between learning about the social versus learning via the social: cognitive models of autism should be revisited to consider social interaction not just as a puzzle to decode but rather a medium through which people, including neuro-diverse groups, learn about the world around them. Trial registration Part of this work has been pre-registered before data collection https://doi.org/10.17605/OSF.IO/5PGA3.

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6. Fithall K, Gray IE, Linardon J, Phillipou A, Donaldson PH, Albein-Urios N, Enticott PG, Fuller-Tyszkiewicz M, Kirkovski M. Exploring the role of autistic traits and eating disorder psychopathology on mentalising ability in the general population. BMC psychology. 2023; 11(1): 269.

BACKGROUND: This study evaluated the role of overlapping traits and characteristics related to autism spectrum disorder (autism) and anorexia nervosa (AN) in the general population, and the impact of these traits on mentalising ability. METHODS: A sample of young adults (N = 306), aged 18-25 years, was recruited to complete an online study that consisted of 4 measures: the Autism-Spectrum Quotient, Eating Disorder Examination Questionnaire, the Mentalization Scale, and the Reading the Mind in the Eyes task. RESULTS: Higher levels of autistic traits, particularly difficulty with attention switching, were associated with increased eating disorder psychopathology. Overall, autistic traits and eating disorder psychopathology were related among females, but not males. Difficulty with attention switching, however, was related to eating disorder psychopathology among both females and males. Autistic traits also appear to have a greater role in mentalising ability than does eating disorder psychopathology. CONCLUSION: The role of attention switching in overlapping traits of autism and eating disorder psychopathology needs to be more comprehensively evaluated by future research, as does the role of biological sex. Expanded knowledge in this field will help to better understand and evaluate symptoms at presentation, leading to clearer diagnoses and potentially better treatment outcomes.

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7. Gao N, Liu Z, Wang H, Shen C, Dong Z, Cui W, Xiong WC, Mei L. Deficiency of Cullin 3, a Protein Encoded by a Schizophrenia and Autism Risk Gene, Impairs Behaviors by Enhancing the Excitability of Ventral Tegmental Area (VTA) DA Neurons. The Journal of neuroscience : the official journal of the Society for Neuroscience. 2023; 43(36): 6249-67.

The dopaminergic neuromodulator system is fundamental to brain functions. Abnormal dopamine (DA) pathway is implicated in psychiatric disorders, including schizophrenia (SZ) and autism spectrum disorder (ASD). Mutations in Cullin 3 (CUL3), a core component of the Cullin-RING ubiquitin E3 ligase complex, have been associated with SZ and ASD. However, little is known about the function and mechanism of CUL3 in the DA system. Here, we show that CUL3 is critical for the function of DA neurons and DA-relevant behaviors in male mice. CUL3-deficient mice exhibited hyperactive locomotion, deficits in working memory and sensorimotor gating, and increased sensitivity to psychostimulants. In addition, enhanced DA signaling and elevated excitability of the VTA DA neurons were observed in CUL3-deficient animals. Behavioral impairments were attenuated by dopamine D2 receptor antagonist haloperidol and chemogenetic inhibition of DA neurons. Furthermore, we identified HCN2, a hyperpolarization-activated and cyclic nucleotide-gated channel, as a potential target of CUL3 in DA neurons. Our study indicates that CUL3 controls DA neuronal activity by maintaining ion channel homeostasis and provides insight into the role of CUL3 in the pathogenesis of psychiatric disorders.SIGNIFICANCE STATEMENT This study provides evidence that Cullin 3 (CUL3), a core component of the Cullin-RING ubiquitin E3 ligase complex that has been associated with autism spectrum disorder and schizophrenia, controls the excitability of dopamine (DA) neurons in mice. Its DA-specific heterozygous deficiency increased spontaneous locomotion, impaired working memory and sensorimotor gating, and elevated response to psychostimulants. We showed that CUL3 deficiency increased the excitability of VTA DA neurons, and inhibiting D2 receptor or DA neuronal activity attenuated behavioral deficits of CUL3-deficient mice. We found HCN2, a hyperpolarization-activated channel, as a target of CUL3 in DA neurons. Our findings reveal CUL3’s role in DA neurons and offer insights into the pathogenic mechanisms of autism spectrum disorder and schizophrenia.

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8. Hesse LG, Smilyanski I, Boyd LD, Vineyard J. Effect of dental hygienists’ self-efficacy on intention to provide dental care to autistic individuals. Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry. 2023.

AIMS: The study aimed to investigate the influence of dental hygiene providers’ self-efficacy and the factors affecting self-efficacy on their intent to provide care for autistic individuals. METHODS AND RESULTS: A cross-sectional survey was conducted using a nonprobability sample of dental hygienists (n = 1075), yielding a completion rate of 70.6%. The survey included validated measures to assess participants’ demographics, autism training and experience, autism knowledge, self-efficacy, environmental factors, and intention to treat the autistic population. Participants’ self-efficacy scores (r = 0.416; p < .001) and support from dental offices (r = [0.174; 0.465]; p < .001) had the greatest influence on intent. Clinicians who had more experience treating (r = 0.280; p = .005) and received more hours of training/education on treating autistic patients (r = 0.344; p < .001) showed a stronger inclination to provide care to this population. Notably, autism knowledge had a weaker impact on intent when compared to self-efficacy and training/education. CONCLUSION: Autism-focused education and training have a positive effect on provider self-efficacy when caring for autistic individuals. Increased emphasis on such interventions is necessary at all levels of dental hygiene education. The findings from this study can help overcome barriers to preventive dental care for the autistic community.

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9. Hu Y, Li M, Shen Y, Wang T, Liu Q, Lu Z, Wang H, Luo X, Yang L. Case report: A novel frameshift mutation in BRSK2 causes autism in a 16-year old Chinese boy. Frontiers in psychiatry. 2023; 14: 1205204.

Serine/threonine protein kinases are involved in axon formation and neuronal polarization and have recently been implicated in autism spectrum disorder (ASD) and neurodevelopmental disorders (NDD). Here, we focus on BRSK2, which encodes brain-specific serine/threonine protein kinase 2. Although previous studies have reported 19 unrelated patients with BRSK2 pathogenic variation, only 15 of 19 patients have detailed clinical data. Therefore, more case reports are needed to enrich the phenotype associated with BRSK2 mutations. In this study, we report a novel de novo frameshift variant (c.442del, p.L148Cfs(*)39) identified by exome sequencing in a 16 year-old Chinese boy with ASD. The proband presented with attention-deficit, auditory hallucinations, limb tremor, and abnormal brain electrical activity mapping. This study expands the phenotypic spectrum of BRSK2-related cases and reveals the highly variable severity of disorders associated with BRSK2.

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10. Jayashankar A, Aziz-Zadeh L. Disgust Processing and Potential Relationships with Behaviors in Autism. Current psychiatry reports. 2023.

PURPOSE OF REVIEW: While there are reports of differences in emotion processing in autism, it is less understood whether the emotion of disgust, in particular, plays a significant role in these effects. Here, we review literature on potential disgust processing differences in autism and its possible associations with autistic traits. RECENT FINDINGS: In autism, there is evidence for differences in physical disgust processing, pica behaviors, attention away from other’s disgust facial expressions, and differences in neural activity related to disgust processing. In typically developing individuals, disgust processing is related to moral processing, but modulated by individual differences in interoception and alexithymia. Autistic individuals may experience atypical disgust, which may lead to difficulty avoiding contaminants and affect socio-emotional processing. In autism, such outcomes may lead to increased occurrences of illness, contribute to gastrointestinal issues, diminish vicarious learning of disgust expression and behaviors, and potentially contribute to differences in processes related to moral reasoning, though further research is needed.

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11. Jia Q, Li H, Wang M, Wei C, Xu L, Ye L, Wang C, Ke S, Li L, Yao P. Transcript levels of 4 genes in umbilical cord blood are predictive of later autism development: a longitudinal follow-up study. Journal of psychiatry & neuroscience : JPN. 2023; 48(5): E334-e44.

BACKGROUND: Over recent decades, autism spectrum disorder (ASD) has been of increasing epidemiological importance, given the substantial increase in its prevalence; at present, clinical diagnosis is possible only after 2 years of age. In this study, we sought to develop a potential predictive model for ASD screening. METHODS: We conducted a longitudinal follow-up study of newborns over 3 years. We measured transcript levels of 4 genes (superoxide dismutase-2 [SOD2], retinoic acid-related orphan receptor-α [RORA], G protein-coupled estrogen receptor-1 [GPER], progesterone receptor [PGR]), 2 oxidative stress markers and epigenetic marks at the RORA promoter in case-control umbilical cord blood mononuclear cell (UCBMC) samples. RESULTS: We followed 2623 newborns; we identified 41 children with ASD, 63 with delayed development and 2519 typically developing children. We matched the 41 children with ASD to 41 typically developing children for UCBMC measurements. Our results showed that children with ASD had significantly higher levels of H3K9me3 histone modifications at the RORA promoter and oxidative stress in UCBMC than typically developing children; children with delayed development showed no significant differences. Children with ASD had significantly lower expression of SOD2, RORA and GPER, but higher PGR expression than typically developing children. We established a model based on these 4 candidate genes, and achieved an area under the curve of 87.0% (standard deviation 3.9%) with a sensitivity of 1.000 and specificity of 0.854 to predict ASD in UCBMC. LIMITATIONS: Although the gene combinations produced a good pass/fail cut-off value for ASD evaluation, relatively few children in our study sample had ASD. CONCLUSION: The altered gene expression in UCBMC can predict later autism development, possibly providing a predictive model for ASD screening immediately after birth.

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12. Jourdon A, Wu F, Mariani J, Capauto D, Norton S, Tomasini L, Amiri A, Suvakov M, Schreiner JD, Jang Y, Panda A, Nguyen CK, Cummings EM, Han G, Powell K, Szekely A, McPartland JC, Pelphrey K, Chawarska K, Ventola P, Abyzov A, Vaccarino FM. Author Correction: Modeling idiopathic autism in forebrain organoids reveals an imbalance of excitatory cortical neuron subtypes during early neurogenesis. Nature neuroscience. 2023.

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13. Montagner PSS, Medeiros W, da Silva LCR, Borges CN, Brasil-Neto J, de Deus Silva Barbosa V, Caixeta FV, Malcher-Lopes R. Individually tailored dosage regimen of full-spectrum Cannabis extracts for autistic core and comorbid symptoms: a real-life report of multi-symptomatic benefits. Frontiers in psychiatry. 2023; 14: 1210155.

Autism Spectrum Disorders (ASD) may significantly impact the well-being of patients and their families. The therapeutic use of cannabis for ASD has gained interest due to its promising results and low side effects, but a consensus on treatment guidelines is lacking. In this study, we conducted a retrospective analysis of 20 patients with autistic symptoms who were treated with full-spectrum cannabis extracts (FCEs) in a response-based, individually-tailored dosage regimen. The daily dosage and relative proportions of cannabidiol (CBD) and tetrahydrocannabinol (THC) were adjusted based on treatment results following periodic clinical evaluation. Most patients (80%) were treated for a minimum of 6 months. We have used a novel, detailed online patient- or caregiver-reported outcome survey that inquired about core and comorbid symptoms, and quality of life. We also reviewed patients’ clinical files, and no individual condition within the autistic spectrum was excluded. This real-life approach enabled us to gain a clearer appraisal of the ample scope of benefits that FCEs can provide for ASD patients and their families. Eighteen patients started with a CBD-rich FCE titrating protocol, and in three of them, the CBD-rich (CBD-dominant) FCE was gradually complemented with low doses of a THC-rich (THC-dominant) FCE based on observed effects. Two other patients have used throughout treatment a blend of two FCEs, one CBD-rich and the other THC-rich. The outcomes were mainly positive for most symptoms, and only one patient from each of the two above-mentioned situations displayed important side effects one who has used only CBD-rich FCE throughout the treatment, and another who has used a blend of CBD-Rich and THC-rich FCEs. Therefore, after FCE treatment, 18 out of 20 patients showed improvement in most core and comorbid symptoms of autism, and in quality of life for patients and their families. For them, side effects were mild and infrequent. Additionally, we show, for the first time, that allotriophagy (Pica) can be treated by FCEs. Other medications were reduced or completely discontinued in most cases. Based on our findings, we propose guidelines for individually tailored dosage regimens that may be adapted to locally available qualified FCEs and guide further clinical trials.

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14. Powers S, Likhite S, Gadalla KK, Miranda CJ, Huffenberger AJ, Dennys C, Foust KD, Morales P, Pierson CR, Rinaldi F, Perry S, Bolon B, Wein N, Cobb S, Kaspar BK, Meyer KC. Novel MECP2 gene therapy is effective in a multicenter study using two mouse models of Rett syndrome and is safe in non-human primates. Molecular therapy : the journal of the American Society of Gene Therapy. 2023; 31(9): 2767-82.

The AAV9 gene therapy vector presented in this study is safe in mice and non-human primates and highly efficacious without causing overexpression toxicity, a major challenge for clinical translation of Rett syndrome gene therapy vectors to date. Our team designed a new truncated methyl-CpG-binding protein 2 (MECP2) promoter allowing widespread expression of MECP2 in mice and non-human primates after a single injection into the cerebrospinal fluid without causing overexpression symptoms up to 18 months after injection. Additionally, this new vector is highly efficacious at lower doses compared with previous constructs as demonstrated in extensive efficacy studies performed by two independent laboratories in two different Rett syndrome mouse models carrying either a knockout or one of the most frequent human mutations of Mecp2. Overall, data from this multicenter study highlight the efficacy and safety of this gene therapy construct, making it a promising candidate for first-in-human studies to treat Rett syndrome.

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15. Pryke-Hobbes A, Davies J, Heasman B, Livesey A, Walker A, Pellicano E, Remington A. The workplace masking experiences of autistic, non-autistic neurodivergent and neurotypical adults in the UK. PloS one. 2023; 18(9): e0290001.

Masking entails hiding or concealing one’s traits during social interactions. Research suggests that masking is particularly common for autistic people, though many non-autistic people also conceal aspects of their identity. Existing research has identified the key motivations and consequences of masking. No research to date, however, has considered how this might be affected by the social context in which masking is employed. This study compared the masking experiences of 285 autistic, 88 non-autistic neurodivergent and 99 neurotypical adults within a context in which masking is expected to be highly prevalent, namely the workplace. We used reflexive thematic analysis to explore the motivations, consequences, and contextual differences of workplace masking compared to other social contexts. Workplace masking was considered by participants in all three groups to be an adaptive response to a range of socially grounded workplace challenges and was usually employed as a strategy to safeguard against the threat of negative social and employment outcomes. Our non-autistic neurodivergent and autistic participants, however, reported experiencing unique pressures to mask, given the limited understanding of neurodiversity in workplaces and society more broadly. These findings have important implications for the wider masking literature and for workplace practice.

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16. Sulentic A, Gupta M, Amin S, Wang Y, Vaiyani D, Sabin P, Partington SL, Gillespie MJ, Jolley MA. 3-Dimensional Modeling Guided Transcatheter Repair of Dehisced Pulmonary Venous Baffle With Gore ASD Device. JACC Case reports. 2023; 21: 101968.

A 38-year-old woman with sinus venosus atrial septal defect and partial anomalous return of the right upper pulmonary vein underwent a Warden procedure but experienced a large residual defect after patch dehiscence. Image-derived 3D modeling informed novel device closure with a Gore Cardioform atrial septal occluder. (Level of Difficulty: Advanced.).

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17. Wimmer L, Steininger TM, Schmid A, Wittwer J. Category learning in autistic individuals: A meta-analysis. Psychonomic bulletin & review. 2023.

Learning new categories is a fundamental human skill. In the present article, we report the first comprehensive meta-analysis of category learning in autism. Including studies comparing groups of autistic and nonautistic individuals, we investigated whether autistic individuals differ in category learning from nonautistic individuals. In addition, we examined moderator variables accounting for variability between studies. A multilevel meta-analysis of k = 50 studies examining n = 1,220 autistic and n = 1,445 nonautistic individuals based on 112 effect sizes in terms of the standardized mean difference revealed lower-level category learning skills for autistic compared with nonautistic individuals, g = -0.55, 95% CI = [-0.73, -0.38], p < .0001. According to moderator analyses, the significant amount of heterogeneity, Q(111) = 617.88, p < .0001, was explained by only one of the moderator variables under investigation-namely, study language. For the remaining variables-namely, age, year of publication, risk of bias, type of control group, IQ of autistic group, percentage of male autistic participants, type of category, type of task, and type of dependent measure-there were no significant effects. Although hat values and Cook's distance statistics confirmed the robustness of findings, results of Egger's test and a funnel plot suggested the presence of publication bias reflecting an overrepresentation of disadvantageous findings for autistic groups. Objectives for future work include identifying additional moderator variables, examining downstream effects of suboptimal category learning skills, and developing interventions.

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18. Zhong X, Wang L, Xu L, Lian J, Chen J, Gong X, Shao Y. Disturbance of skin sensation and autism spectrum disorder: A bidirectional Mendelian randomization study. Brain and behavior. 2023: e3238.

BACKGROUND AND AIM: Patients with autism spectrum disorder (ASD) commonly experience aberrant skin sensation sensitivity; however, the causal relationship is not yet clear. This study uses a bidirectional Mendelian randomization (MR) method to explore the relationship between disturbance of skin sensation (DSS) and ASD. METHODS: Single-nucleotide polymorphisms (SNPs) extracted from the summary data of genome-wide association studies were used as genetic instruments. MR was performed using the inverse-variance-weighted method, with alternate methods (e.g., weighted median, MR-Egger, simple mode, weighted mode, and MR-pleiotropy residual sum and outlier) and multiple sensitivity analyses to assess horizontal pleiotropy and remove outliers. RESULTS: The results of the analysis using six SNPs as genetic instruments showed that the DSS is associated with an increased risk of ASD (odds ratio = 1.126, 95% confidence interval = 1.029-1.132; p = .010). The results of the sensitivity analyses were robust with no evidence of pleiotropy. The reverse MR analyses showed no causal effects of ASD on DSS. CONCLUSION: This study’s findings suggest that DSS has potential causal effects on ASD, whereas ASD has no effect on DSS. Thus, skin sensitivity may represent a behavioral marker of ASD, by which some populations could be subtyped in the future.

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