Pubmed du 31/03/24
1. Bourque VR, Poulain C, Proulx C, Moreau CA, Joober R, Forgeot d’Arc B, Huguet G, Jacquemont S. Genetic and phenotypic similarity across major psychiatric disorders: a systematic review and quantitative assessment. Transl Psychiatry. 2024; 14(1): 171.
There is widespread overlap across major psychiatric disorders, and this is the case at different levels of observations, from genetic variants to brain structures and function and to symptoms. However, it remains unknown to what extent these commonalities at different levels of observation map onto each other. Here, we systematically review and compare the degree of similarity between psychiatric disorders at all available levels of observation. We searched PubMed and EMBASE between January 1, 2009 and September 8, 2022. We included original studies comparing at least four of the following five diagnostic groups: Schizophrenia, Bipolar Disorder, Major Depressive Disorder, Autism Spectrum Disorder, and Attention Deficit Hyperactivity Disorder, with measures of similarities between all disorder pairs. Data extraction and synthesis were performed by two independent researchers, following the PRISMA guidelines. As main outcome measure, we assessed the Pearson correlation measuring the degree of similarity across disorders pairs between studies and biological levels of observation. We identified 2975 studies, of which 28 were eligible for analysis, featuring similarity measures based on single-nucleotide polymorphisms, gene-based analyses, gene expression, structural and functional connectivity neuroimaging measures. The majority of correlations (88.6%) across disorders between studies, within and between levels of observation, were positive. To identify a consensus ranking of similarities between disorders, we performed a principal component analysis. Its first dimension explained 51.4% (95% CI: 43.2, 65.4) of the variance in disorder similarities across studies and levels of observation. Based on levels of genetic correlation, we estimated the probability of another psychiatric diagnosis in first-degree relatives and showed that they were systematically lower than those observed in population studies. Our findings highlight that genetic and brain factors may underlie a large proportion, but not all of the diagnostic overlaps observed in the clinic.
Lien vers le texte intégral (Open Access ou abonnement)
2. Chouinard B, Pesquita A, Enns JT, Chapman CS. Processing of visual social-communication cues during a social-perception of action task in autistic and non-autistic observers. Neuropsychologia. 2024: 108880.
Social perception and communication differ between those with and without autism, even when verbal fluency and intellectual ability are equated. Previous work found that observers responded more quickly to an actor’s points if the actor had chosen by themselves where to point instead of being directed where to point. Notably, this ‘choice-advantage’ effect decreased across non-autistic participants as the number of autistic-like traits and tendencies increased (Pesquita et al., 2016). Here, we build on that work using the same task to study individuals over a broader range of the spectrum, from autistic to non-autistic, measuring both response initiation and mouse movement times, and considering the response to each actor separately. Autistic and non-autistic observers viewed videos of three different actors pointing to one of two locations, without knowing that the actors were sometimes freely choosing to point to one target and other times being directed where to point. All observers exhibited a choice-advantage overall, meaning they responded more rapidly when actors were freely choosing versus when they were directed, indicating a sensitivity to the actors’ postural cues and movements. Our fine-grained analyses found a more robust choice-advantage to some actors than others, with autistic observers showing a choice-advantage only in response to one of the actors, suggesting that both actor and observer characteristics influence the overall effect. We briefly explore existing actor characteristics that may have contributed to this effect, finding that both duration of exposure to pre-movement cues and kinematic cues of the actors likely influence the choice advantage to different degrees across the groups. Altogether, the evidence suggested that both autistic and non-autistic individuals could detect the choice-advantage signal, but that for autistic observers the choice-advantage was actor specific. Notably, we found that the influence of the signal, when present, was detected early for all actors by the non-autistic observers, but detected later and only for one actor by the autistic observers. Altogether, we have more accurately characterized the ability of social-perception in autistic individuals as intact, but highlighted that detection of signal is likely delayed/distributed compared to non-autistic observers and that it is important to investigate actor characteristics that may influence detection and use of their social-perception signals.
Lien vers le texte intégral (Open Access ou abonnement)
3. Santos Musachio EA, da Silva Andrade S, Meichtry LB, Fernandes EJ, de Almeida PP, Janner DE, Dahleh MMM, Guerra GP, Prigol M. Exposure to Bisphenol F and Bisphenol S during development induces autism-like endophenotypes in adult Drosophila melanogaster. Neurotoxicol Teratol. 2024; 103: 107348.
Bisphenol F (BPF) and Bisphenol S (BPS) are being widely used by the industry with the claim of « safer substances », even with the scarcity of toxicological studies. Given the etiological gap of autism spectrum disorder (ASD), the environment may be a causal factor, so we investigated whether exposure to BPF and BPS during the developmental period can induce ASD-like modeling in adult flies. Drosophila melanogaster flies were exposed during development (embryonic and larval period) to concentrations of 0.25, 0.5, and 1 mM of BPF and BPS, separately inserted into the food. When they transformed into pupae were transferred to a standard diet, ensuring that the flies (adult stage) did not have contact with bisphenols. Thus, after hatching, consolidated behavioral tests were carried out for studies with ASD-type models in flies. It was observed that 1 mM BPF and BPS caused hyperactivity (evidenced by open-field test, negative geotaxis, increased aggressiveness and reproduction of repetitive behaviors). The flies belonging to the 1 mM groups of BPF and BPS also showed reduced cognitive capacity, elucidated by the learning behavior through aversive stimulus. Within the population dynamics that flies exposed to 1 mM BPF and 0.5 and 1 mM BPS showed a change in social interaction, remaining more distant from each other. Exposure to 1 mM BPF, 0.5 and 1 mM BPS increased brain size and reduced Shank immunoreactivity of adult flies. These findings complement each other and show that exposure to BPF and BPS during the development period can elucidate a model with endophenotypes similar to ASD in adult flies. Furthermore, when analyzing comparatively, BPS demonstrated a greater potential for damage when compared to BPF. Therefore, in general these data sets contradict the idea that these substances can be used freely.
