Neuroanatomical underpinnings of autism symptomatology in carriers and non-carriers of the 22q11.2 microdeletion / Maria GUDBRANDSEN in Molecular Autism, 11 (2020)  

Public ISBD [article]  inMolecular Autism > 11 (2020) . - 46 p. Titre : Neuroanatomical underpinnings of autism symptomatology in carriers and non-carriers of the 22q11.2 microdeletion Type de document : Texte imprimé et/ou numérique Auteurs : Maria GUDBRANDSEN, Auteur ; Anke BLETSCH, Auteur ; Caroline MANN, Auteur ; Eileen DALY, Auteur ; Clodagh M. MURPHY, Auteur ; Vladimira STOENCHEVA, Auteur ; Charlotte E. BLACKMORE, Auteur ; Maria ROGDAKI, Auteur ; Leila KUSHAN, Auteur ; Carrie E. BEARDEN, Auteur ; Declan G. M. MURPHY, Auteur ; Michael C. CRAIG, Auteur ; Christine ECKER, Auteur Article en page(s) : 46 p. Langues : Anglais (eng) Mots-clés : 22q11.2 deletion syndrome  Autism spectrum disorder  Brain anatomy  Neurodevelopment  Surface-based anatomy  authors reported any financial interests or conflicts of interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: A crucial step to understanding the mechanistic underpinnings of autism spectrum disorder (ASD), is to examine if the biological underpinnings of ASD in genetic high-risk conditions, like 22q11.2 deletion syndrome (22q11.2DS), are similar to those in idiopathic illness. This study aimed to examine if ASD symptomatology in 22q11.2DS is underpinned by the same-or distinct-neural systems that mediate these symptoms in non-deletion carriers. METHODS: We examined vertex-wise estimates of cortical volume (CV), surface area (SA), and cortical thickness across 131 individuals between 6 and 25?years of age including (1) 50 individuals with 22q11.2DS, out of which n = 25 had a diagnosis of ASD, (2) 40 non-carriers of the microdeletion with a diagnosis of ASD (i.e., idiopathic ASD), and (3) 41 typically developing (TD) controls. We employed a 2-by-2 factorial design to identify neuroanatomical variability associated with the main effects of 22q11.2DS and ASD, as well as their interaction. Further, using canonical correlation analysis (CCA), we compared neuroanatomical variability associated with the complex (i.e., multivariate) clinical phenotype of ASD between 22q11.2 deletion carriers and non-carriers. RESULTS: The set of brain regions associated with the main effect of 22q11.2DS was distinct from the neuroanatomical underpinnings of the main effect of ASD. Moreover, significant 22q11.2DS-by-ASD interactions were observed for CV and SA in the dorsolateral prefrontal cortex, precentral gyrus, and posterior cingulate cortex, suggesting that the neuroanatomy of ASD is significantly modulated by 22q11.2DS (p < 0.01). We further established that the multivariate patterns of neuroanatomical variability associated with differences in symptom profiles significantly differed between 22q11.2 deletion carriers and non-carriers. LIMITATIONS: We employed a multicenter design to overcome single-site recruitment limitations; however, FreeSurfer-derived measures of surface anatomy have been shown to be highly reliable across scanner platforms and field strengths. Further, we controlled for gender to address the differing distribution between idiopathic ASD individuals and the other groups. Nonetheless, the gender distribution in our sample reflects that of the respective populations, adding to the generalizability of our results. Last, we included individuals with a relatively wide age range (i.e., 6-25?years). CONCLUSIONS: Our findings indicate that neuroanatomical correlates of ASD symptomatology in carriers of the 22q11.2 microdeletion diverge from those in idiopathic ASD. En ligne : http://dx.doi.org/10.1186/s13229-020-00356-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=427 [article] Neuroanatomical underpinnings of autism symptomatology in carriers and non-carriers of the 22q11.2 microdeletion [Texte imprimé et/ou numérique] / Maria GUDBRANDSEN, Auteur ; Anke BLETSCH, Auteur ; Caroline MANN, Auteur ; Eileen DALY, Auteur ; Clodagh M. MURPHY, Auteur ; Vladimira STOENCHEVA, Auteur ; Charlotte E. BLACKMORE, Auteur ; Maria ROGDAKI, Auteur ; Leila KUSHAN, Auteur ; Carrie E. BEARDEN, Auteur ; Declan G. M. MURPHY, Auteur ; Michael C. CRAIG, Auteur ; Christine ECKER, Auteur . - 46 p. Langues : Anglais (eng) in Molecular Autism > 11 (2020) . - 46 p. Mots-clés : 22q11.2 deletion syndrome  Autism spectrum disorder  Brain anatomy  Neurodevelopment  Surface-based anatomy  authors reported any financial interests or conflicts of interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: A crucial step to understanding the mechanistic underpinnings of autism spectrum disorder (ASD), is to examine if the biological underpinnings of ASD in genetic high-risk conditions, like 22q11.2 deletion syndrome (22q11.2DS), are similar to those in idiopathic illness. This study aimed to examine if ASD symptomatology in 22q11.2DS is underpinned by the same-or distinct-neural systems that mediate these symptoms in non-deletion carriers. METHODS: We examined vertex-wise estimates of cortical volume (CV), surface area (SA), and cortical thickness across 131 individuals between 6 and 25?years of age including (1) 50 individuals with 22q11.2DS, out of which n = 25 had a diagnosis of ASD, (2) 40 non-carriers of the microdeletion with a diagnosis of ASD (i.e., idiopathic ASD), and (3) 41 typically developing (TD) controls. We employed a 2-by-2 factorial design to identify neuroanatomical variability associated with the main effects of 22q11.2DS and ASD, as well as their interaction. Further, using canonical correlation analysis (CCA), we compared neuroanatomical variability associated with the complex (i.e., multivariate) clinical phenotype of ASD between 22q11.2 deletion carriers and non-carriers. RESULTS: The set of brain regions associated with the main effect of 22q11.2DS was distinct from the neuroanatomical underpinnings of the main effect of ASD. Moreover, significant 22q11.2DS-by-ASD interactions were observed for CV and SA in the dorsolateral prefrontal cortex, precentral gyrus, and posterior cingulate cortex, suggesting that the neuroanatomy of ASD is significantly modulated by 22q11.2DS (p < 0.01). We further established that the multivariate patterns of neuroanatomical variability associated with differences in symptom profiles significantly differed between 22q11.2 deletion carriers and non-carriers. LIMITATIONS: We employed a multicenter design to overcome single-site recruitment limitations; however, FreeSurfer-derived measures of surface anatomy have been shown to be highly reliable across scanner platforms and field strengths. Further, we controlled for gender to address the differing distribution between idiopathic ASD individuals and the other groups. Nonetheless, the gender distribution in our sample reflects that of the respective populations, adding to the generalizability of our results. Last, we included individuals with a relatively wide age range (i.e., 6-25?years). CONCLUSIONS: Our findings indicate that neuroanatomical correlates of ASD symptomatology in carriers of the 22q11.2 microdeletion diverge from those in idiopathic ASD. En ligne : http://dx.doi.org/10.1186/s13229-020-00356-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=427

The effect of age on vertex-based measures of the grey-white matter tissue contrast in autism spectrum disorder / C. MANN in Molecular Autism, 9 (2018)  

Public ISBD [article]  inMolecular Autism > 9 (2018) . - 49p. Titre : The effect of age on vertex-based measures of the grey-white matter tissue contrast in autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : C. MANN, Auteur ; Anke BLETSCH, Auteur ; D. ANDREWS, Auteur ; Eileen DALY, Auteur ; C. MURPHY, Auteur ; D. MURPHY, Auteur ; C. ECKER, Auteur Article en page(s) : 49p. Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Brain anatomy  Neurodevelopment  Neuroimaging  Structural MRI  Psychosomatics and Psychotherapy, University Hospital, Goethe-University  Frankfurt am Main, Deutschordenstrasse 50, 60528 Frankfurt, Germany  DA, PhD, The  Medical Investigation of Neurodevelopmental Disorders (MIND) Institute and  Department of Psychiatry and Behavioural Sciences, UC Davis School of Medicine,  University of California Davis, Sacramento, CA, USA  ED, PhD and CM, PhD,  Department of Forensic and Neurodevelopmental Sciences, and the Sackler Institute  for Translational Neurodevelopmental Sciences, Institute of Psychiatry,  Psychology & Neuroscience (IoPPN), King's College London, London SE5 8AF, United  Kingdom  DM, Professor, Head of Department of Forensic and Neurodevelopmental  Sciences, and the Sackler Institute for Translational Neurodevelopmental  Sciences, Institute of Psychiatry, Psychology & Neuroscience (IoPPN), King's  College London, London SE5 8AF, United Kingdom  CE, Professor, Department of  Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University  Hospital, Goethe-University Frankfurt am Main, Deutschordenstrasse 50, 60528  Frankfurt, Germany and Department of Forensic and Neurodevelopmental Sciences,  and the Sackler Institute for Translational Neurodevelopmental Sciences,  Institute of Psychiatry, Psychology & Neuroscience (IoPPN), King's College  London, London SE5 8AF, United Kingdom.All participants gave informed written  consent in accordance with the ethics approval by the National Research Ethics  Committee, Suffolk, England.Not applicable.The authors declare that they have no  competing interests.Springer Nature remains neutral with regard to jurisdictional  claims in published maps and institutional affiliations. Index. décimale : PER Périodiques Résumé : Background: Histological evidence suggests that autism spectrum disorder (ASD) is accompanied by a reduced integrity of the grey-white matter boundary. This has also recently been confirmed by a structural neuroimaging study in vivo reporting significantly reduced grey-white matter tissue contrast (GWC) in adult individuals (18-42 years of age) with ASD relative to typically developing (TD) controls. However, it remains unknown whether the neuroanatomical differences in ASD at the grey-white matter boundary are stable across development or are age-dependent. Methods: Here, we examined differences in the neurodevelopmental trajectories of GWC in a cross-sectional sample of 77 male ASD individuals and 76 typically developing (TD) controls across childhood and early adulthood (from 7 to 25 years). Results: Using nested model comparisons, we first established that the developmental trajectory of GWC is complex in many regions across the cortex and includes linear and non-linear effects of age. Second, while ASD individuals have significantly reduced GWC overall, these differences are age-dependent and are most prominent during childhood (< 15 years). Conclusions: Taken together, our findings suggest that differences in GWC in ASD are unlikely to reflect atypical grey matter cytoarchitecture alone, but may also represent other aspects of the cortical architecture such as age-dependent variability in myelin integrity. En ligne : https://dx.doi.org/10.1186/s13229-018-0232-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=371 [article] The effect of age on vertex-based measures of the grey-white matter tissue contrast in autism spectrum disorder [Texte imprimé et/ou numérique] / C. MANN, Auteur ; Anke BLETSCH, Auteur ; D. ANDREWS, Auteur ; Eileen DALY, Auteur ; C. MURPHY, Auteur ; D. MURPHY, Auteur ; C. ECKER, Auteur . - 49p. Langues : Anglais (eng) in Molecular Autism > 9 (2018) . - 49p. Mots-clés : Autism spectrum disorder  Brain anatomy  Neurodevelopment  Neuroimaging  Structural MRI  Psychosomatics and Psychotherapy, University Hospital, Goethe-University  Frankfurt am Main, Deutschordenstrasse 50, 60528 Frankfurt, Germany  DA, PhD, The  Medical Investigation of Neurodevelopmental Disorders (MIND) Institute and  Department of Psychiatry and Behavioural Sciences, UC Davis School of Medicine,  University of California Davis, Sacramento, CA, USA  ED, PhD and CM, PhD,  Department of Forensic and Neurodevelopmental Sciences, and the Sackler Institute  for Translational Neurodevelopmental Sciences, Institute of Psychiatry,  Psychology & Neuroscience (IoPPN), King's College London, London SE5 8AF, United  Kingdom  DM, Professor, Head of Department of Forensic and Neurodevelopmental  Sciences, and the Sackler Institute for Translational Neurodevelopmental  Sciences, Institute of Psychiatry, Psychology & Neuroscience (IoPPN), King's  College London, London SE5 8AF, United Kingdom  CE, Professor, Department of  Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University  Hospital, Goethe-University Frankfurt am Main, Deutschordenstrasse 50, 60528  Frankfurt, Germany and Department of Forensic and Neurodevelopmental Sciences,  and the Sackler Institute for Translational Neurodevelopmental Sciences,  Institute of Psychiatry, Psychology & Neuroscience (IoPPN), King's College  London, London SE5 8AF, United Kingdom.All participants gave informed written  consent in accordance with the ethics approval by the National Research Ethics  Committee, Suffolk, England.Not applicable.The authors declare that they have no  competing interests.Springer Nature remains neutral with regard to jurisdictional  claims in published maps and institutional affiliations. Index. décimale : PER Périodiques Résumé : Background: Histological evidence suggests that autism spectrum disorder (ASD) is accompanied by a reduced integrity of the grey-white matter boundary. This has also recently been confirmed by a structural neuroimaging study in vivo reporting significantly reduced grey-white matter tissue contrast (GWC) in adult individuals (18-42 years of age) with ASD relative to typically developing (TD) controls. However, it remains unknown whether the neuroanatomical differences in ASD at the grey-white matter boundary are stable across development or are age-dependent. Methods: Here, we examined differences in the neurodevelopmental trajectories of GWC in a cross-sectional sample of 77 male ASD individuals and 76 typically developing (TD) controls across childhood and early adulthood (from 7 to 25 years). Results: Using nested model comparisons, we first established that the developmental trajectory of GWC is complex in many regions across the cortex and includes linear and non-linear effects of age. Second, while ASD individuals have significantly reduced GWC overall, these differences are age-dependent and are most prominent during childhood (< 15 years). Conclusions: Taken together, our findings suggest that differences in GWC in ASD are unlikely to reflect atypical grey matter cytoarchitecture alone, but may also represent other aspects of the cortical architecture such as age-dependent variability in myelin integrity. En ligne : https://dx.doi.org/10.1186/s13229-018-0232-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=371

The neuroanatomical substrates of autism and ADHD and their link to putative genomic underpinnings / Caroline GURR ; Johanna LEYHAUSEN ; Hanna SEELEMEYER ; Anke BLETSCH ; Tim SCHAEFER ; Charlotte M. PRETZSCH ; Bethany OAKLEY ; Eva LOTH ; Dorothea L. FLORIS ; Jan K. BUITELAAR ; Christian F. BECKMANN ; Tobias BANASCHEWSKI ; Tony CHARMAN ; Emily J. H. JONES ; Julian TILLMANN ; Chris H CHATHAM ; Thomas BOURGERON ; EU-AIMS LEAP Group ; Declan G. M. MURPHY ; Christine ECKER in Molecular Autism, 14 (2023)  

Public ISBD [article]  inMolecular Autism > 14 (2023) . - 36 p. Titre : The neuroanatomical substrates of autism and ADHD and their link to putative genomic underpinnings Type de document : Texte imprimé et/ou numérique Auteurs : Caroline GURR, Auteur ; Johanna LEYHAUSEN, Auteur ; Hanna SEELEMEYER, Auteur ; Anke BLETSCH, Auteur ; Tim SCHAEFER, Auteur ; Charlotte M. PRETZSCH, Auteur ; Bethany OAKLEY, Auteur ; Eva LOTH, Auteur ; Dorothea L. FLORIS, Auteur ; Jan K. BUITELAAR, Auteur ; Christian F. BECKMANN, Auteur ; Tobias BANASCHEWSKI, Auteur ; Tony CHARMAN, Auteur ; Emily J. H. JONES, Auteur ; Julian TILLMANN, Auteur ; Chris H CHATHAM, Auteur ; Thomas BOURGERON, Auteur ; EU-AIMS LEAP Group, Auteur ; Declan G. M. MURPHY, Auteur ; Christine ECKER, Auteur Article en page(s) : 36 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorders (ASD) are neurodevelopmental conditions accompanied by differences in brain development. Neuroanatomical differences in autism are variable across individuals and likely underpin distinct clinical phenotypes. To parse heterogeneity, it is essential to establish how the neurobiology of ASD is modulated by differences associated with co-occurring conditions, such as attention-deficit/hyperactivity disorder (ADHD). This study aimed to (1) investigate between-group differences in autistic individuals with and without co-occurring ADHD, and to (2) link these variances to putative genomic underpinnings. METHODS: We examined differences in cortical thickness (CT) and surface area (SA) and their genomic associations in a sample of 533 individuals from the Longitudinal European Autism Project. Using a general linear model including main effects of autism and ADHD, and an ASD-by-ADHD interaction, we examined to which degree ADHD modulates the autism-related neuroanatomy. Further, leveraging the spatial gene expression data of the Allen Human Brain Atlas, we identified genes whose spatial expression patterns resemble our neuroimaging findings. RESULTS: In addition to significant main effects for ASD and ADHD in fronto-temporal, limbic, and occipital regions, we observed a significant ASD-by-ADHD interaction in the left precentral gyrus and the right frontal gyrus for measures of CT and SA, respectively. Moreover, individuals with ASD?+?ADHD differed in CT to those without. Both main effects and the interaction were enriched for ASD-but not for ADHD-related genes. LIMITATIONS: Although we employed a multicenter design to overcome single-site recruitment limitations, our sample size of N=25 individuals in the ADHD only group is relatively small compared to the other subgroups, which limits the generalizability of the results. Also, we assigned subjects into ADHD positive groupings according to the DSM-5 rating scale. While this is sufficient for obtaining a research diagnosis of ADHD, our approach did not take into account for how long the symptoms have been present, which is typically considered when assessing ADHD in the clinical setting. CONCLUSION: Thus, our findings suggest that the neuroanatomy of ASD is significantly modulated by ADHD, and that autistic individuals with co-occurring ADHD may have specific neuroanatomical underpinnings potentially mediated by atypical gene expression. En ligne : http://dx.doi.org/10.1186/s13229-023-00568-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=513 [article] The neuroanatomical substrates of autism and ADHD and their link to putative genomic underpinnings [Texte imprimé et/ou numérique] / Caroline GURR, Auteur ; Johanna LEYHAUSEN, Auteur ; Hanna SEELEMEYER, Auteur ; Anke BLETSCH, Auteur ; Tim SCHAEFER, Auteur ; Charlotte M. PRETZSCH, Auteur ; Bethany OAKLEY, Auteur ; Eva LOTH, Auteur ; Dorothea L. FLORIS, Auteur ; Jan K. BUITELAAR, Auteur ; Christian F. BECKMANN, Auteur ; Tobias BANASCHEWSKI, Auteur ; Tony CHARMAN, Auteur ; Emily J. H. JONES, Auteur ; Julian TILLMANN, Auteur ; Chris H CHATHAM, Auteur ; Thomas BOURGERON, Auteur ; EU-AIMS LEAP Group, Auteur ; Declan G. M. MURPHY, Auteur ; Christine ECKER, Auteur . - 36 p. Langues : Anglais (eng) in Molecular Autism > 14 (2023) . - 36 p. Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorders (ASD) are neurodevelopmental conditions accompanied by differences in brain development. Neuroanatomical differences in autism are variable across individuals and likely underpin distinct clinical phenotypes. To parse heterogeneity, it is essential to establish how the neurobiology of ASD is modulated by differences associated with co-occurring conditions, such as attention-deficit/hyperactivity disorder (ADHD). This study aimed to (1) investigate between-group differences in autistic individuals with and without co-occurring ADHD, and to (2) link these variances to putative genomic underpinnings. METHODS: We examined differences in cortical thickness (CT) and surface area (SA) and their genomic associations in a sample of 533 individuals from the Longitudinal European Autism Project. Using a general linear model including main effects of autism and ADHD, and an ASD-by-ADHD interaction, we examined to which degree ADHD modulates the autism-related neuroanatomy. Further, leveraging the spatial gene expression data of the Allen Human Brain Atlas, we identified genes whose spatial expression patterns resemble our neuroimaging findings. RESULTS: In addition to significant main effects for ASD and ADHD in fronto-temporal, limbic, and occipital regions, we observed a significant ASD-by-ADHD interaction in the left precentral gyrus and the right frontal gyrus for measures of CT and SA, respectively. Moreover, individuals with ASD?+?ADHD differed in CT to those without. Both main effects and the interaction were enriched for ASD-but not for ADHD-related genes. LIMITATIONS: Although we employed a multicenter design to overcome single-site recruitment limitations, our sample size of N=25 individuals in the ADHD only group is relatively small compared to the other subgroups, which limits the generalizability of the results. Also, we assigned subjects into ADHD positive groupings according to the DSM-5 rating scale. While this is sufficient for obtaining a research diagnosis of ADHD, our approach did not take into account for how long the symptoms have been present, which is typically considered when assessing ADHD in the clinical setting. CONCLUSION: Thus, our findings suggest that the neuroanatomy of ASD is significantly modulated by ADHD, and that autistic individuals with co-occurring ADHD may have specific neuroanatomical underpinnings potentially mediated by atypical gene expression. En ligne : http://dx.doi.org/10.1186/s13229-023-00568-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=513

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