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3 recherche sur le mot-clé 'Autism Spectrum Disorder/diagnostic imaging/genetics'
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Heritability of abnormalities in limbic networks of autism spectrum disorder children: Evidence from an autism spectrum disorder twin study / Linyan FU in Autism Research, 15-4 (April 2022)
[article]
Titre : Heritability of abnormalities in limbic networks of autism spectrum disorder children: Evidence from an autism spectrum disorder twin study Type de document : Texte imprimé et/ou numérique Auteurs : Linyan FU, Auteur ; Chunyan LI, Auteur ; Yun LI, Auteur ; Xin CHENG, Auteur ; Xiwen CUI, Auteur ; Jiying JIANG, Auteur ; Ning DING, Auteur ; Hui FANG, Auteur ; Tianyu TANG, Auteur ; Xiaoyan KE, Auteur Article en page(s) : p.628-640 Langues : Anglais (eng) Mots-clés : Anisotropy Autism Spectrum Disorder/diagnostic imaging/genetics Child Child, Preschool Diffusion Magnetic Resonance Imaging Diffusion Tensor Imaging/methods Humans White Matter autism spectrum disorder environmental effects genetic factors limbic tracts twins Index. décimale : PER Périodiques Résumé : Although the limbic system is closely related to emotion and social behaviors, little is known about the integrity of limbic pathways and how genetics influence the anatomical abnormalities of limbic networks in children with autism spectrum disorder (ASD). Therefore, we used an ASD twin study design to evaluate the microstructural integrity and autism-related differences in limbic pathways of young children with ASD and to estimate the heritability of limbic tracts microstructure variance. We obtained diffusion tensor imaging scans from 33 pairs of twins with ASD aged 2-9?years and 20 age-matched typically developing children. The ACE model was used to estimate the relative effects of additive genetic factors (A), shared environmental factors (C) and specific environmental factors (E) on the variability of diffusivity measurements. We found a significant decrease in fractional anisotropy (FA) in the bilateral fornix and uncinate fasciculus (UF), as well as increased mean diffusivity (MD) and radial diffusivity (RD) in the bilateral fornix and right UF of ASD children. Correlation analysis showed that FA, MD, and lateralization indices of UF were correlated with autism diagnostic observation schedule scores. The ACE model revealed that genetic effects may drive some of the variability of microstructure in the bilateral fornix, cingulum, and left UF. In conclusion, in children with ASD, there are abnormalities in the white matter microstructure of the limbic system, which is related to the core symptoms; these abnormalities may be related to the relative contribution of genetic and environmental effects on specific tracts. LAY SUMMARY: Autism spectrum disorder (ASD) children have abnormal white matter structure in limbic system related to ASD symptoms, and genetic factors play an important role in the development of limbic tracts. En ligne : https://dx.doi.org/10.1002/aur.2686 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=473
in Autism Research > 15-4 (April 2022) . - p.628-640[article] Heritability of abnormalities in limbic networks of autism spectrum disorder children: Evidence from an autism spectrum disorder twin study [Texte imprimé et/ou numérique] / Linyan FU, Auteur ; Chunyan LI, Auteur ; Yun LI, Auteur ; Xin CHENG, Auteur ; Xiwen CUI, Auteur ; Jiying JIANG, Auteur ; Ning DING, Auteur ; Hui FANG, Auteur ; Tianyu TANG, Auteur ; Xiaoyan KE, Auteur . - p.628-640.
Langues : Anglais (eng)
in Autism Research > 15-4 (April 2022) . - p.628-640
Mots-clés : Anisotropy Autism Spectrum Disorder/diagnostic imaging/genetics Child Child, Preschool Diffusion Magnetic Resonance Imaging Diffusion Tensor Imaging/methods Humans White Matter autism spectrum disorder environmental effects genetic factors limbic tracts twins Index. décimale : PER Périodiques Résumé : Although the limbic system is closely related to emotion and social behaviors, little is known about the integrity of limbic pathways and how genetics influence the anatomical abnormalities of limbic networks in children with autism spectrum disorder (ASD). Therefore, we used an ASD twin study design to evaluate the microstructural integrity and autism-related differences in limbic pathways of young children with ASD and to estimate the heritability of limbic tracts microstructure variance. We obtained diffusion tensor imaging scans from 33 pairs of twins with ASD aged 2-9?years and 20 age-matched typically developing children. The ACE model was used to estimate the relative effects of additive genetic factors (A), shared environmental factors (C) and specific environmental factors (E) on the variability of diffusivity measurements. We found a significant decrease in fractional anisotropy (FA) in the bilateral fornix and uncinate fasciculus (UF), as well as increased mean diffusivity (MD) and radial diffusivity (RD) in the bilateral fornix and right UF of ASD children. Correlation analysis showed that FA, MD, and lateralization indices of UF were correlated with autism diagnostic observation schedule scores. The ACE model revealed that genetic effects may drive some of the variability of microstructure in the bilateral fornix, cingulum, and left UF. In conclusion, in children with ASD, there are abnormalities in the white matter microstructure of the limbic system, which is related to the core symptoms; these abnormalities may be related to the relative contribution of genetic and environmental effects on specific tracts. LAY SUMMARY: Autism spectrum disorder (ASD) children have abnormal white matter structure in limbic system related to ASD symptoms, and genetic factors play an important role in the development of limbic tracts. En ligne : https://dx.doi.org/10.1002/aur.2686 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=473 A systematic review of brain MRI findings in monogenic disorders strongly associated with autism spectrum disorder / V. FREWER in Journal of Child Psychology and Psychiatry, 62-11 (November 2021)
[article]
Titre : A systematic review of brain MRI findings in monogenic disorders strongly associated with autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : V. FREWER, Auteur ; C. P. GILCHRIST, Auteur ; S. E. COLLINS, Auteur ; K. WILLIAMS, Auteur ; M. L. SEAL, Auteur ; R. J. LEVENTER, Auteur ; D. J. AMOR, Auteur Article en page(s) : p.1339-1352 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnostic imaging/genetics Autistic Disorder Brain/diagnostic imaging Humans Magnetic Resonance Imaging Neuroimaging Autism spectrum disorder Mri magnetic resonance imaging monogenic disorders Index. décimale : PER Périodiques Résumé : BACKGROUND: Research on monogenic forms of autism spectrum disorder (autism) can inform our understanding of genetic contributions to the autism phenotype; yet, there is much to be learned about the pathways from gene to brain structure to behavior. This systematic review summarizes and evaluates research on brain magnetic resonance imaging (MRI) findings in monogenic conditions that have strong association with autism. This will improve understanding of the impact of genetic variability on brain structure and related behavioral traits in autism. METHODS: The search strategy for this systematic review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Risk of bias (ROB) assessment was completed on included studies using the Newcastle-Ottawa Scales. RESULTS: Of 4,287 studies screened, 69 were included pertaining to 13 of the top 20 genes with the strongest association with autism. The greatest number of studies related to individuals with PTEN variants and autism. Brain MRI abnormalities were reported for 12 of the 13 genes studied, and in 51.7% of participants across all 13 genes, including 100% of participants with ARID1B variants. Specific MRI findings were highly variable, with no clear patterns emerging within or between the 13 genes, although white matter abnormalities were the most common. Few studies reported specific details about methods for acquisition and processing of brain MRI, and descriptors for brain abnormalities were variable. ROB assessment indicated high ROB for all studies, largely due to small sample sizes and lack of comparison groups. CONCLUSIONS: Brain abnormalities are common in this population of individuals, in particular, children; however, a range of different brain abnormalities were reported within and between genes. Directions for future neuroimaging research in monogenic autism are suggested. En ligne : http://dx.doi.org/10.1111/jcpp.13510 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456
in Journal of Child Psychology and Psychiatry > 62-11 (November 2021) . - p.1339-1352[article] A systematic review of brain MRI findings in monogenic disorders strongly associated with autism spectrum disorder [Texte imprimé et/ou numérique] / V. FREWER, Auteur ; C. P. GILCHRIST, Auteur ; S. E. COLLINS, Auteur ; K. WILLIAMS, Auteur ; M. L. SEAL, Auteur ; R. J. LEVENTER, Auteur ; D. J. AMOR, Auteur . - p.1339-1352.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 62-11 (November 2021) . - p.1339-1352
Mots-clés : Autism Spectrum Disorder/diagnostic imaging/genetics Autistic Disorder Brain/diagnostic imaging Humans Magnetic Resonance Imaging Neuroimaging Autism spectrum disorder Mri magnetic resonance imaging monogenic disorders Index. décimale : PER Périodiques Résumé : BACKGROUND: Research on monogenic forms of autism spectrum disorder (autism) can inform our understanding of genetic contributions to the autism phenotype; yet, there is much to be learned about the pathways from gene to brain structure to behavior. This systematic review summarizes and evaluates research on brain magnetic resonance imaging (MRI) findings in monogenic conditions that have strong association with autism. This will improve understanding of the impact of genetic variability on brain structure and related behavioral traits in autism. METHODS: The search strategy for this systematic review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Risk of bias (ROB) assessment was completed on included studies using the Newcastle-Ottawa Scales. RESULTS: Of 4,287 studies screened, 69 were included pertaining to 13 of the top 20 genes with the strongest association with autism. The greatest number of studies related to individuals with PTEN variants and autism. Brain MRI abnormalities were reported for 12 of the 13 genes studied, and in 51.7% of participants across all 13 genes, including 100% of participants with ARID1B variants. Specific MRI findings were highly variable, with no clear patterns emerging within or between the 13 genes, although white matter abnormalities were the most common. Few studies reported specific details about methods for acquisition and processing of brain MRI, and descriptors for brain abnormalities were variable. ROB assessment indicated high ROB for all studies, largely due to small sample sizes and lack of comparison groups. CONCLUSIONS: Brain abnormalities are common in this population of individuals, in particular, children; however, a range of different brain abnormalities were reported within and between genes. Directions for future neuroimaging research in monogenic autism are suggested. En ligne : http://dx.doi.org/10.1111/jcpp.13510 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456 Brain morphology, autistic traits, and polygenic risk for autism: A population-based neuroimaging study / Silvia ALEMANY in Autism Research, 14-10 (October 2021)
[article]
Titre : Brain morphology, autistic traits, and polygenic risk for autism: A population-based neuroimaging study Type de document : Texte imprimé et/ou numérique Auteurs : Silvia ALEMANY, Auteur ; E. BLOK, Auteur ; P. R. JANSEN, Auteur ; R. L. MUETZEL, Auteur ; T. WHITE, Auteur Article en page(s) : p.2085-2099 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnostic imaging/genetics Autistic Disorder/diagnostic imaging/genetics Brain/diagnostic imaging Child Humans Magnetic Resonance Imaging Neuroimaging autism cortical thickness genetics gyrification surface area Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASD) are associated with widespread brain alterations. Previous research in our group linked autistic traits with altered gyrification, but without pronounced differences in cortical thickness. Herein, we aim to replicate and extend these findings using a larger and older sample. Additionally, we examined whether (a) brain correlates of autistic traits were associated with polygenic risk scores (PRS) for ASD, and (b) autistic traits are related with brain morphological changes over time in a subset of children with longitudinal data available. The sample included 2400 children from the Generation R cohort. Autistic traits were measured using the Social Responsiveness Scale (SRS) at age 6?years. Gyrification, cortical thickness, surface area, and global morphological measures were obtained from high-resolution structural MRI scans at ages 9-to-12?years. We performed multiple linear regression analyses on a vertex-wise level. Corresponding regions of interest were tested for association with PRS. Results showed that autistic traits were related to (a) lower gyrification in the lateral occipital and the superior and inferior parietal lobes, (b) lower cortical thickness in the superior frontal region, and (c) lower surface area in inferior temporal and rostral middle frontal regions. PRS for ASD and longitudinal analyses showed significant associations that did not survive correction for multiple testing. Our findings support stability in the relationship between higher autistic symptoms and lower gyrification and smaller surface areas in school-aged children. These relationships remained when excluding ASD cases, providing neurobiological evidence for the extension of autistic traits into the general population. LAY SUMMARY: We found that school-aged children with higher levels of autistic traits had smaller total brain volume, cerebellum, cortical thickness, and surface area. Further, we also found differences in the folding patterns of the brain (gyrification). Overall, genetic susceptibility for autism spectrum disorders was not related to these brain regions suggesting that other factors could be involved in their origin. These results remained significant when excluding children with a diagnosis of ASD, providing support for the extension of the relationship between autistic traits and brain findings into the general population. En ligne : http://dx.doi.org/10.1002/aur.2576 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=450
in Autism Research > 14-10 (October 2021) . - p.2085-2099[article] Brain morphology, autistic traits, and polygenic risk for autism: A population-based neuroimaging study [Texte imprimé et/ou numérique] / Silvia ALEMANY, Auteur ; E. BLOK, Auteur ; P. R. JANSEN, Auteur ; R. L. MUETZEL, Auteur ; T. WHITE, Auteur . - p.2085-2099.
Langues : Anglais (eng)
in Autism Research > 14-10 (October 2021) . - p.2085-2099
Mots-clés : Autism Spectrum Disorder/diagnostic imaging/genetics Autistic Disorder/diagnostic imaging/genetics Brain/diagnostic imaging Child Humans Magnetic Resonance Imaging Neuroimaging autism cortical thickness genetics gyrification surface area Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASD) are associated with widespread brain alterations. Previous research in our group linked autistic traits with altered gyrification, but without pronounced differences in cortical thickness. Herein, we aim to replicate and extend these findings using a larger and older sample. Additionally, we examined whether (a) brain correlates of autistic traits were associated with polygenic risk scores (PRS) for ASD, and (b) autistic traits are related with brain morphological changes over time in a subset of children with longitudinal data available. The sample included 2400 children from the Generation R cohort. Autistic traits were measured using the Social Responsiveness Scale (SRS) at age 6?years. Gyrification, cortical thickness, surface area, and global morphological measures were obtained from high-resolution structural MRI scans at ages 9-to-12?years. We performed multiple linear regression analyses on a vertex-wise level. Corresponding regions of interest were tested for association with PRS. Results showed that autistic traits were related to (a) lower gyrification in the lateral occipital and the superior and inferior parietal lobes, (b) lower cortical thickness in the superior frontal region, and (c) lower surface area in inferior temporal and rostral middle frontal regions. PRS for ASD and longitudinal analyses showed significant associations that did not survive correction for multiple testing. Our findings support stability in the relationship between higher autistic symptoms and lower gyrification and smaller surface areas in school-aged children. These relationships remained when excluding ASD cases, providing neurobiological evidence for the extension of autistic traits into the general population. LAY SUMMARY: We found that school-aged children with higher levels of autistic traits had smaller total brain volume, cerebellum, cortical thickness, and surface area. Further, we also found differences in the folding patterns of the brain (gyrification). Overall, genetic susceptibility for autism spectrum disorders was not related to these brain regions suggesting that other factors could be involved in their origin. These results remained significant when excluding children with a diagnosis of ASD, providing support for the extension of the relationship between autistic traits and brain findings into the general population. En ligne : http://dx.doi.org/10.1002/aur.2576 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=450