Pubmed du 29/04/25

Pubmed du jour

1. Cunningham C, Macdonald O, Schaffer A, Brown A, Wiedemann M, Higgins R, Bates C, Parry J, Fisher L, Curtis H, Mehrkar A, Hart LC, Hulme W, Speed V, Ward T, Croker R, Wood C, Walker A, Andrews C, Butler-Cole B, Evans D, Inglesby P, Dillingham I, Davy S, Bridges L, O’Dwyer T, Maude S, Smith R, Green A, Goldacre B, MacKenna B, Bacon S. Impact of the COVID-19 pandemic on antidepressant prescribing with a focus on people with learning disability and autism: an interrupted time series analysis in England using OpenSAFELY-TPP. BMJ Ment Health;2025 (Apr 28);28(1)

BACKGROUND: COVID-19 restrictions led to increased reports of depressive symptoms in the general population and impacted health and social care services. We explored whether these changes affected antidepressant prescribing trends in the general population and those with learning disability or autism. METHODS: With the approval of NHS England, we used >24 million patients’ primary care data from the OpenSAFELY-TPP platform. We used interrupted time series analysis to quantify trends in those prescribed and newly prescribed an antidepressant across key demographic and clinical subgroups, comparing pre-COVID-19 (January 2018-February 2020), COVID-19 restrictions (March 2020-February 2021) and recovery (March 2021-December 2022) periods. RESULTS: Prior to COVID-19 restrictions, antidepressant prescribing was increasing in the general population and in those with learning disability or autism. We did not find evidence that the pandemic was associated with a change in antidepressant prescribing trend in the general population (relative risk (RR) 1.00 (95% CI 0.97 to 1.02)), in those with autism (RR 0.99 (95% CI 0.97 to 1.01)) or in those with learning disability (RR 0.98 (95% CI 0.96 to 1.00)).New prescribing post restrictions was 13% and 12% below expected had COVID-19 not happened in both the general population and those with autism (RR 0.87 (95% CI 0.83 to 0.93), RR 0.88 (95% CI 0.83 to 0.92)), but not learning disability (RR 0.96 (95% CI 0.87 to 1.05)). CONCLUSIONS AND IMPLICATIONS: In this England study, we did not see an impact of COVID-19 on overall antidepressant prescribing, although unique trends were noted, such as trends in new antidepressant prescriptions which increased in care homes over the pandemic and decreased in the general population and those with autism since recovery.

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2. Galli J, Vezzoli M, Loi E, Micheletti S, Molinaro A, Tagliavento L, Calza S, Sokolov AN, Pavlova MA, Fazzi E. Alterations in looking at face-pareidolia images in autism. Sci Rep;2025 (Apr 28);15(1):14915.

Face tuning is vital for adaptive and effective social cognition and interaction. This capability is impaired in a wide range of mental conditions including autism spectrum disorder (ASD). Yet the origins of this deficit are largely unknown. Here, an eye-tracking methodology had been implemented in adolescents with high-functioning ASD and in typically developing (TD) matched controls while administering a face-pareidolia task. The spatial distributions of eye fixation in five regions of interest [face, eyes, mouth, CFA (complementary face area, a face area beyond eyes and mouth) and non-face area (a screen area outside a face)] were recorded during spontaneous recognition of a set of Arcimboldo-like Face-n-Food images presented in a predetermined order from the least to most resembling a face. Individuals with ASD gave significantly fewer face responses and looked more often at the mouth, CFA, and non-face areas. By contrast, TD controls mostly fixated the face and eyes areas. The atypical visual scanning strategies could, at least partly, account for the lower face tuning in ASD, supporting the eye avoidance hypothesis, according to which ASD individuals concentrate less on the eyes because the eyes represent a source of emotional information that may make them feel uncomfortable.

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3. Girault JB, Nishino T, Talović M, Nebel MB, Reynolds M, Burrows CA, Elison JT, Lee CM, Snyder AZ, Shen MD, Shen AM, Botteron KN, Estes AM, Dager SR, Gerig G, Hazlett HC, Marrus N, McKinstry RC, Pandey J, Schultz RT, John TS, Styner MA, Zwaigenbaum L, Todorov AA, Piven J, Pruett JR, Jr. Functional connectivity between the visual and salience networks and autistic social features at school-age. J Neurodev Disord;2025 (Apr 28);17(1):23.

BACKGROUND: Autism spectrum disorder (ASD) is highly heritable and phenotypically variable. Neuroimaging markers reflecting variation in behavior will provide insights into circuitry subserving core features. We examined functional correlates of ASD symptomology at school-age, while accounting for associated behavioral and cognitive domains, in a longitudinal sample followed from infancy and enriched for those with a genetic liability for ASD. METHODS: Resting state functional connectivity MRIs (fcMRI) and behavioral data were analyzed from 97 school-age children (8.1-12.0 years, 55 males, 15 ASD) with (n = 63) or without (n = 34) a family history of ASD. fcMRI enrichment analysis (EA) was used to screen for associations between network-level functional connectivity and six behaviors of interest in a data-driven manner: social affect, restricted and repetitive behavior (RRB), generalized anxiety, inattention, motor coordination, and matrix reasoning. RESULTS: Functional connectivity between the visual and salience networks was significantly associated with social affect symptoms at school-age after accounting for all other behaviors. Results indicated that stronger connectivity was associated with higher social affect scores. No other behaviors were robustly associated with functional connectivity, though trends were observed between visual-salience connectivity and RRBs. CONCLUSIONS: Connectivity between the visual and salience networks may play an important role in social affect symptom variability among children with ASD and those with genetic liability for ASD. These findings align with and extend earlier reports in this sample of the central role of the visual system during infancy in ASD.

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4. Grant-Bier J, Ruppert K, Hayward B, Usdin K, Kumari D. MSH2 is not required for either maintenance of DNA methylation or repeat contraction at the FMR1 locus in fragile X syndrome or the FXN locus in Friedreich’s ataxia. Epigenetics Chromatin;2025 (Apr 28);18(1):24.

BACKGROUND: Repeat-induced epigenetic changes are observed in many repeat expansion disorders (REDs). These changes result in transcriptional deficits and/or silencing of the associated gene. MSH2, a mismatch repair protein that is required for repeat expansion in the REDs, has been implicated in the maintenance of DNA methylation seen in the region upstream of the expanded CTG repeats at the DMPK locus in myotonic dystrophy type 1 (DM1). Here, we investigated the role of MSH2 in aberrant DNA methylation in two additional REDs, fragile X syndrome (FXS) that is caused by a CGG repeat expansion in the 5′ untranslated region (UTR) of the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene, and Friedreich’s ataxia (FRDA) that is caused by a GAA repeat expansion in intron 1 of the frataxin (FXN) gene. RESULTS: In contrast to what is seen at the DMPK locus in DM1, loss of MSH2 did not decrease DNA methylation at the FMR1 promoter in FXS embryonic stem cells (ESCs) or increase FMR1 transcription. This difference was not due to the differences in the CpG density of the two loci as a decrease in DNA methylation was also not observed in a less CpG dense region upstream of the expanded GAA repeats in the FXN gene in MSH2 null induced pluripotent stem cells (iPSCs) derived from FRDA patient fibroblasts. Surprisingly, given previous reports, we found that FMR1 reactivation was associated with a high frequency of MSH2-independent CGG-repeat contractions that resulted a permanent loss of DNA methylation. MSH2-independent GAA-repeat contractions were also seen in FRDA cells. CONCLUSIONS: Our results suggest that there are mechanistic differences in the way that DNA methylation is maintained in the region upstream of expanded repeats among different REDs even though they share a similar mechanism of repeat expansion. The high frequency of transcription-induced MSH2-dependent and MSH2-independent contractions we have observed may contribute to the mosaicism that is frequently seen in carriers of FMR1 alleles with expanded CGG-repeat tracts. These contractions may reflect the underlying problems associated with transcription through the repeat. Given the recent interest in the therapeutic use of transcription-driven repeat contractions, our data may have interesting mechanistic, prognostic, and therapeutic implications.

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5. Pomè A, Zimmermann E. Disrupted sensorimotor predictions in high autistic characteristics. Proc Natl Acad Sci U S A;2025 (Apr 29);122(17):e2501624122.

Humans maintain a stable view of the world by omitting self-generated motion during rapid eye movements, or saccades. An efferent copy of the saccade motor command informs visual processing about the self-produced motion. However, efference copy information has been demonstrated to be disrupted in individuals with high autistic traits. Here, we investigated saccadic omission in participants with high vs. low autistic traits. Participants made saccades to peripheral targets and reported the location of drifting gratings that became visible during saccade execution. Sensitivity to motion was also assessed in a fixation condition, where retinal velocities matched those experienced during saccades. Our findings reveal that individuals with heightened autistic traits exhibit significantly reduced sensitivity to motion during saccades compared to those with low autistic traits, while no Autistic Quotient-dependent differences were observed in the fixation condition. These results suggest that impairments in sensorimotor processing affect the ability of individuals with high autistic traits to predict how their own movements affect the sensory input. The lack of sensorimotor integration might explain the sensory overload that autistics frequently experience.

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6. Vazquez JA, Rao A. Immunizations, Autism, and Statistical Analysis. Am J Med;2025 (Apr 26)

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