1. Guissart C, Polge A, Durand N, Miret A, Lumbroso S, Francannet C, Mouzat K. Discovering the ANK2-related autism phenotype. Clinical genetics. 2023.

Interestingly, disease-causing mutations in the ANK2 gene have been identified in patients with autism since 2012, though with no full clinical description. In this Research Letter, for the first time, we describe the detailed characteristics of a patient with autism caused by a new mutation in this gene. Our report is a first step to better understanding ANK2-related autism and will contribute to facilitating its further diagnosis.

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2. Leisman G, Melillo R, Melillo T. Prefrontal functional connectivities in autism spectrum disorders: A connectopathic disorder affecting movement, interoception, and cognition. Brain research bulletin. 2023; 198: 65-76.

The prefrontal cortex is included in a neuronal system that includes the basal ganglia, the thalamus, and the cerebellum. Most of the higher and more complex motor, cognitive, and emotional behavioral functions are thought to be found primarily in the frontal lobes. Insufficient connectivity between the medial prefrontal cortex (mPFC) and other regions of the brain that are distant from each other involved in top-down information processing rely on the global integration of data from multiple input sources and enhance low level perception processes (bottom-up information processing). The reduced deactivation in mPFC and in the rest of the Default Network during global task processing is consistent with the integrative modulatory role served by the mPFC. We stress the importance of understanding the degree to which sensory and movement anomalies in individuals with autism spectrum disorder (ASD) can contribute to social impairment. Further investigation on the neurobiological basis of sensory symptoms and its relationship to other clinical features found in ASD is required Treatment perhaps should not be first behaviorally based but rather based on facilitating sensory motor development.

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3. Lukito S, O’Daly OG, Lythgoe DJ, Hodsoll J, Maltezos S, Pitts M, Simonoff E, Rubia K. Reduced inferior fronto-insular-thalamic activation during failed inhibition in young adults with combined ASD and ADHD compared to typically developing and pure disorder groups. Translational psychiatry. 2023; 13(1): 133.

Autism spectrum disorder (ASD) often co-occurs with attention-deficit/hyperactivity disorder (ADHD) and people with these conditions have frontostriatal functional atypicality during motor inhibition. We compared the neural and neurocognitive correlates of motor inhibition and performance monitoring in young adult males with « pure » and combined presentations with age-and sex-matched typically developing controls, to explore shared or disorder-specific atypicality. Males aged 20-27 years with typical development (TD; n = 22), ASD (n = 21), combined diagnoses ASD + ADHD (n = 23), and ADHD (n = 25) were compared using a modified tracking fMRI stop-signal task that measures motor inhibition and performance monitoring while controlling for selective attention. In addition, they performed a behavioural go/no-go task outside the scanner. While groups did not differ behaviourally during successful stop trials, the ASD + ADHD group relative to other groups had underactivation in typical performance monitoring regions of bilateral anterior insula/inferior frontal gyrus, right posterior thalamus, and right middle temporal gyrus/hippocampus during failed inhibition, which was associated with increased stop-signal reaction time. In the behavioural go/no-go task, both ADHD groups, with and without ASD, had significantly lower motor inhibition performance compared to TD controls. In conclusion, only young adult males with ASD + ADHD had neurofunctional atypicality in brain regions associated with performance monitoring, while inhibition difficulties on go/no-go task performance was shared with ADHD. The suggests that young people with ASD + ADHD are most severely impaired during motor inhibition tasks compared to ASD and ADHD but do not reflect a combination of the difficulties associated with the pure disorders.

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4. Luo L, Li T, Wu Q, Yuan B, Hu C, Yang T, Wei H, Chen J. Retinoic acid administration normalizes aberrant microglial activation via regulating TREM2 transcription in the PFC of valproic acid induced autism rat. Neuroscience letters. 2023; 803: 137193.

Autism spectrum disorder (ASD) is a complex neurodevelopmental disease with an unclear underlying pathogenesis. Disruption of retinoic acid (RA)-retinoic acid receptor α (RARα) signaling and aberrant microglial activation were reported to be involved in the pathogenesis of ASD. However, the effect of RA-RARα signaling on microglial activation in ASD and the underlying mechanisms are unknown. Herein, we found inhibited RA-RARα signaling and increased microglial activation in valproic acid (VPA)-induced autism rats. Furthermore, we administered RA to VPA rats and found that RA ameliorated autism-like behaviors, inhibited microglial activation and normalized microglial polarization in VPA rats. Additionally, the expression levels of RARα and triggering receptor expressed on myeloid cells 2 (TREM2) were increased in the prefrontal cortex (PFC) of VPA rats given RA. Chromatin immunoprecipitation (ChIP) and dual luciferase reporter assays confirmed that RARα can regulate the transcriptional activity of the TREM2 gene by binding to its promoter. We conclude that RA administration ameliorates autism-like behaviors in VPA rats by inhibiting microglial activation and normalizing microglial polarization through the regulation of TREM2 transcription by RARα.

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5. Natri HM, Abubakare O, Asasumasu K, Basargekar A, Beaud F, Botha M, Bottema-Beutel K, Brea MR, Brown LXZ, Burr DA, Cobbaert L, Dabbs C, Denome D, Rosa SDR, Doherty M, Edwards B, Edwards C, Liszk SE, Elise F, Fletcher-Watson S, Flower RL, Fuller S, Gassner D, Onaiwu MG, Good J, Grant A, Haddix VL, Heraty S, Hundt A, Kapp SK, Keates N, Kulshan T, Lampi AJ, Latimer O, Leadbitter K, Tidd JL, Manalili M, Martin M, Millichamp A, Morton H, Nair V, Pavlopoulou G, Pearson A, Pellicano L, Porter H, Poulsen R, Robertson ZS, Rodriguez K, Roux A, Russell M, Ryan J, Sasson N, Grier HS, Somerville M, Sorensen C, Stockwell KM, Szymanski T, Thompson-Hodgetts S, van Driel M, VanUitert V, Waldock K, Walker N, Watts C, Williams Z, Woods R, Yu B, Zadow M, Zimmerman J, Zisk AH. Anti-ableist language is fully compatible with high-quality autism research: Response to Singer et al. (2023). Autism research : official journal of the International Society for Autism Research. 2023; 16(4): 673-6.

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6. Nicholls LAB, Stewart ME. Autistic traits are associated with enhanced working memory capacity for abstract visual stimuli. Acta psychologica. 2023; 236: 103905.

We tested whether the association between autistic traits and enhanced performance in visual-perceptual tasks extends to visual working memory capacity. We predicted that any positive effect of autistic traits on visual working memory performance would be greatest during domain-specific tasks, in which visual resources must be relied upon. We used a visual ‘matrix’ task, involving recall of black-and-white chequered patterns which increased in size, to establish participants’ capacity (span). We assessed 144 young adults’ (M = 22.0 years, SD = 2.5) performance on abstract, ‘low semantic’ versus ‘high semantic’ task versions. The latter offered multimodal coding due to the availability of long-term memory resources that could supplement visual working memory. Participants also completed measures of autistic traits and trait anxiety. Autistic traits, especially Attention to Detail, Attention Switching, and Communication, positively predicted visual working memory capacity, specifically in the low semantic task, which relies on visual working memory resources. Autistic traits are therefore associated with enhanced processing and recall of visual information. The benefit is removed, however, when multimodal coding may be incorporated, emphasising the visual nature of the benefit. Strengths in focused attention to detail therefore appear to benefit domain-specific visual working memory task performance.

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7. Njotto LL, Simin J, Fornes R, Odsbu I, Mussche I, Callens S, Engstrand L, Bruyndonckx R, Brusselaers N. Maternal and Early-Life Exposure to Antibiotics and the Risk of Autism and Attention-Deficit Hyperactivity Disorder in Childhood: a Swedish Population-Based Cohort Study. Drug safety. 2023.

INTRODUCTION: Antibiotics represent the most common type of medication used during pregnancy and infancy. Antibiotics have been proposed as a possible factor in changes in microbiota composition, which may play a role in the aetiology of autism and attention deficit/hyperactivity disorder (ADHD). Our aim was to investigate the association between maternal and early-life antibiotic use and autism and ADHD in childhood. METHODS: This Swedish nation-wide population-based cohort study included all first live singleton births (N = 483,459) between January 2006 and December 2016. The association of dispensed antibiotics with autism and ADHD in children aged ≤ 11 years was estimated by applying multivariable logistic regression and generalised estimating equations models. RESULTS: Of the mothers, 25.9% (n = 125,106) were dispensed ≥1 antibiotic during the exposure period (from 3 months pre-conception to delivery), and 41.6% (n = 201,040) of the children received ≥ 1 antibiotic in early life (aged ≤ 2 years). Penicillin was the most prescribed antibiotic class (17.9% of mothers, 38.2% of children). Maternal antibiotic use was associated with an increased risk of autism [odds ratio (OR) = 1.16, 95% confidence interval (CI) 1.09-1.23] and ADHD (OR = 1.29, 95% CI 1.21-1.36) in childhood. Early-life exposure to antibiotics showed an even stronger association [autism (OR = 1.46, 95% CI 1.38-1.55); ADHD (OR = 1.90, 95% CI 1.80-2.00)]. Both maternal and childhood-exposure sub-analyses suggested a dose-response relationship. CONCLUSION: Maternal and early-life antibiotic use was associated with an increased risk of autism and ADHD in childhood. However, differences were noted by exposure period and antibiotic classes. Antibiotics are commonly prescribed to pregnant women, infants, and toddlers. Antibiotic use during pregnancy may alter the maternal microbiota, which can influence the microbial colonisation of the gastrointestinal system of the foetus. It has been claimed that antibiotic use during pregnancy may have an effect on the gut-brain axis and, as a result, neurodevelopment. Neurodevelopmental disorder (NDD) is a category of illnesses characterised by functional impairments that manifest early in development. The most frequent NDDs are autism and attention-deficit/hyperactivity disorder (ADHD). In this large Swedish nation-wide study, we assessed whether antibiotic use during pregnancy and/or early in life affects the risk of developing autism and ADHD. The study found that both maternal antibiotic usage, as well as early childhood antibiotic use, were associated with an increased risk of autism and ADHD in children. These associations were altered by the quantity, type, and timing of antibiotic exposure. eng.

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8. Phillips AQ, Campi E, Talbott MR, Baranek GT. Assessment Fidelity of Parents Implementing a Standardized Telehealth Infant Autism Screener. OTJR : occupation, participation and health. 2023: 15394492231164943.

Telehealth is effective for service delivery in pediatric occupational therapy across ages and diagnoses. Remote parent coaching provides unique benefits for both parents and infants. As a result of COVID-19, practitioners and researchers pivoted to remote assessment and intervention without much preparation or training. It is critical that we evaluate the quality of these telehealth services. One important component of remote evaluations is assessment fidelity. To examine assessment fidelity of a telehealth-delivered observational autism screening tool for infants. An assessment fidelity checklist was applied as the primary outcome measure. Parents conducted assessments with 82% adherence to the fidelity checklist. Implications: A parent coaching telehealth approach may be valid for assessment in pediatric telehealth. Continually monitoring the assessment fidelity of a tool is critical for the valid administration of remote services.

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9. Wang Z, Golos A, Weiss JA, Anaby D. Participation of Children With Autism During COVID-19: The Role of Maternal Participation. OTJR : occupation, participation and health. 2023: 15394492231164939.

BACKGROUND: Little is known about participation during adverse times. OBJECTIVES: This study described participation of children with autism aged 6 to 13 during COVID-19 pandemic and examined the extent to which child factors, mother’s own participation, and environmental barriers/supports explain child participation in home and community. METHOD: A total of 130 mothers completed the Participation and Environment Measure for Children and Youth, the Health Promoting Activities Scale, functional issues checklist, and sociodemographic questionnaire. RESULTS: Children’s participation frequency and involvement were significantly higher at home than in the community. In both settings, mothers desired change in 71% of activities. Multiple regression models indicated that child’s age and mother’s participation frequency significantly explained child’s home involvement (R(2) = 21%), where mother’s participation (frequency) had a unique contribution (ΔR(2) = 10.4%) at home but not in the community. CONCLUSION: Findings imply the importance of maternal participation to child’s participation at home and suggest redirecting attention for enhancing family participation as a whole.

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10. Wright FV, Wright A, Bauve C, Evans K. Getting into the game: evaluation of the reliability, validity and utility of the Ignite Challenge scale for school-aged children with autism spectrum disorder. Disability and rehabilitation. 2023: 1-17.

PURPOSE: Evaluate reliability, concurrent validity and utility of the Ignite Challenge motor skills measure for children with autism spectrum disorder (ASD). MATERIALS/METHODS: In this measurement study, children completed the Ignite Challenge twice, 1-3 weeks apart. A physiotherapist assessor (one of seven) conducted a child’s test-retest assessments and scored administration ease and child engagement (/10 visual analogue scale). A second assessor rated baseline assessment videos. Validity data (parent-report PEDI-CAT) were collected at baseline. Reliability analysis employed ICCs (95% CI) and evaluated minimum detectable change (MDC(80)). Pearson’s correlations (r) estimated validity. RESULTS: Forty-seven children with ASD (mean 9.34 years [SD = 2.35]; 10 girls; independent social communication) were tested at baseline; 45 were retested. Ignite Challenge baseline and retest mean scores were 69.0% (SD = 17.1) and 69.5% (SD = 16.6) respectively, with excellent inter-rater/test-retest reliability (ICC = 0.96 [95% CI 0.92, 0.97] and ICC = 0.91 [95% CI 0.84, 0.95]) respectively, and MDC(80) = 9.28. Administration ease and child engagement were 6.5/10 (SD = 2.4) and 6.7/10 (SD = 2.2). Ignite Challenge and PEDI-CAT Social/Mobility (n = 45) associations were r = 0.54 and 0.57. Minimal suggestions for measure revisions arose from child/assessor feedback. CONCLUSIONS: Ignite Challenge can reliably identify movement strengths and challenges of children with ASD. Use may permit more appropriate evaluation and goal setting within physical activity-based programs.IMPLICATIONS FOR REHABILITATIONIgnite Challenge is a reliable and valid advanced motor skills measure for children with Autism Spectrum Disorder (ASD), ages 6 years and up.Ignite Challenge can be reliably scored in-person (« live ») even with younger children and those requiring increased assessor attention to optimize engagement.Most children enjoyed playing the Ignite Challenge « mini games »-this positive engagement (« getting into the game ») helps support assessment of their best motor performance abilities.Ignite Challenge identifies motor-related challenges that impact a child’s physical activity participation, and thus informs meaningful goal setting/intervention with children with ASD.

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