Pubmed du 15/08/21
1. Abdulkadir M, Yu D, Osiecki L, King RA, Fernandez TV, Brown LW, Cheon KA, Coffey BJ, Garcia-Delgar B, Gilbert DL, Grice DE, Hagstrøm J, Hedderly T, Heyman I, Hong HJ, Huyser C, Ibanez-Gomez L, Kim YK, Kim YS, Koh YJ, Kook S, Kuperman S, Leventhal B, Madruga-Garrido M, Maras A, Mir P, Morer A, Münchau A, Plessen KJ, Roessner V, Shin EY, Song DH, Song J, Visscher F, Zinner SH, Mathews CA, Scharf JM, Tischfield JA, Heiman GA, Dietrich A, Hoekstra PJ. Investigation of gene-environment interactions in relation to tic severity. Journal of neural transmission (Vienna, Austria : 1996). 2021; 128(11): 1757-65.
Tourette syndrome (TS) is a neuropsychiatric disorder with involvement of genetic and environmental factors. We investigated genetic loci previously implicated in Tourette syndrome and associated disorders in interaction with pre- and perinatal adversity in relation to tic severity using a case-only (N = 518) design. We assessed 98 single-nucleotide polymorphisms (SNPs) selected from (I) top SNPs from genome-wide association studies (GWASs) of TS; (II) top SNPs from GWASs of obsessive-compulsive disorder (OCD), attention-deficit/hyperactivity disorder (ADHD), and autism spectrum disorder (ASD); (III) SNPs previously implicated in candidate-gene studies of TS; (IV) SNPs previously implicated in OCD or ASD; and (V) tagging SNPs in neurotransmitter-related candidate genes. Linear regression models were used to examine the main effects of the SNPs on tic severity, and the interaction effect of these SNPs with a cumulative pre- and perinatal adversity score. Replication was sought for SNPs that met the threshold of significance (after correcting for multiple testing) in a replication sample (N = 678). One SNP (rs7123010), previously implicated in a TS meta-analysis, was significantly related to higher tic severity. We found a gene-environment interaction for rs6539267, another top TS GWAS SNP. These findings were not independently replicated. Our study highlights the future potential of TS GWAS top hits in gene-environment studies.
Lien vers le texte intégral (Open Access ou abonnement)
2. Fischi-Gomez E, Bonnier G, Ward N, Granziera C, Hadjikhani N. Ultrahigh field in vivo characterization of microstructural abnormalities in the orbitofrontal cortex and amygdala in autism. The European journal of neuroscience. 2021; 54(6): 6229-36.
There are currently no biomarkers for autism spectrum disorder (ASD). This neurodevelopmental condition has previously been associated with histopathological findings, including increased neuronal packing density in the amygdala, abnormal laminar cytoarchitecture and increased average neuronal density in the prefrontal cortex. The present study examined whether new brain imaging technologies could reveal in vivo, in adults with ASD, the manifestation of previously described histopathological changes. Using quantitative mapping at ultrahigh field (7 Tesla), we show that we can observe microstructural alterations in the right lateral orbitofrontal cortex and the bilateral amygdala in adult individuals with ASD in vivo. These imaging alterations point to an abnormal laminar cytoarchitecture and to an increased neuronal density, similar to what has been previously described in post-mortem data in ASD. Our data demonstrate that it is possible to visualize, in vivo and at the individual level, alterations of cortical and subcortical microstructure in ASD. Future studies will be needed to extend these findings to a larger group of individuals and evaluate their association with symptomatology as well as their specificity among the different neurodevelopmental disorders.
Lien vers le texte intégral (Open Access ou abonnement)
3. Greenlee JL, Piro-Gambetti B, Putney J, Papp LM, Hartley SL. Marital satisfaction, parenting styles, and child outcomes in families of autistic children. Family process. 2021.
Theory and research on the general population suggest that parents’ marital relationship quality is associated with children’s emotional and behavioral functioning directly, as well as indirectly, by affecting parenting attitudes and behaviors. However, little has been done to investigate the potential connection among parent marital satisfaction, parenting styles, and outcomes for autistic children. Using longitudinal data collected from 188 couples parenting an autistic child, this study tested the time-ordered indirect effect of parent marital satisfaction (assessed at Time 1) on the internalizing and externalizing symptoms (assessed at Time 3) of autistic children (originally aged 5-12 years) via parenting styles (assessed at Time 2) using actor-partner interdependence modeling extended to mediation. Results indicated that a lower level of marital satisfaction at Time 1 predicted impaired child outcomes at Time 3 via its impact on parenting style at Time 2. For both parents, lower marital satisfaction predicted more child externalizing symptoms via reports of more authoritarian parenting style. Lower marital satisfaction in mothers at Time 1 was also associated with higher levels of child internalizing symptoms at Time 3 via increased authoritarian parenting in mothers. No partner effects were found. A family-wide approach that includes support for the parent marital relationship, which may have downstream effects on parenting, is important for promoting optimal emotional and behavioral health in autistic children.
Lien vers le texte intégral (Open Access ou abonnement)
4. Hayashi W, Hanawa Y, Iwami Y, Aoyagi K, Saga N, Nakamura D, Iwanami A. Correction to: ASD symptoms in adults with ADHD: a preliminary study using the ADOS-2. European archives of psychiatry and clinical neuroscience. 2022; 272(2): 233.
Lien vers le texte intégral (Open Access ou abonnement)
5. Mo S, Viljoen N, Sharma S. The impact of socio-cultural values on autistic women: An interpretative phenomenological analysis. Autism : the international journal of research and practice. 2022; 26(4): 951-62.
Autistic women with average or above intellectual abilities are often overlooked clinically or identified at older ages compared to autistic males. Their experiences can provide insight into the socio-cultural factors that impact on how they develop and are seen by others. This study asked autistic women to describe the culture around them and explore how this has influenced their lived experiences. Individual semi-structured interviews were conducted with eight autistic women without a co-occurring diagnosis of intellectual disabilities. These were used for interpretative phenomenological analysis. Overall, we found three closely connected themes on the pervasive influence of cultural values on autistic women, how autistic women define themselves and the importance of connecting with society. These findings suggest that dominant cultural beliefs, values and norms effect how autistic women are recognised by others and develop their sense of self. Broadening how people think about autistic women in society and clinically may benefit how we identify and support autistic women.
Lien vers le texte intégral (Open Access ou abonnement)
6. Petrov IS, Stankov ZI, Boychev DB. Use of ASD closure device for the sealing of false lumen entry in the ascending aorta after dissection Type A surgical repair. BMJ case reports. 2021; 14(8).
We present a case of a persistent false lumen after ascending aorta replacement due to Stanford Type A dissection treated by endovascular means. The main entry tear was occluded with an atrial septal defect closure device, sealing the false lumen. A total of five additional stents were implanted to centralise and secure the flow in the true lumen. CT scan at 6-month follow-up showed excellent results with a decreased total aortic diameter and thrombosed false lumen.
