Imbalanced social-communicative and restricted repetitive behavior subtypes of autism spectrum disorder exhibit different neural circuitry
العنوان: | Imbalanced social-communicative and restricted repetitive behavior subtypes of autism spectrum disorder exhibit different neural circuitry |
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المؤلفون: | Meng-Chuan Lai, Elena Maria Busuoli, Antonio M. Persico, Bonnie Auyeung, Eva Loth, Sarah Durston, Andreas Meyer-Lindenberg, Sven Bölte, Carolin Moessnang, Stavros Trakoshis, Marianne Oldehinkel, Prantik Kundu, Steve C.R. Williams, Jan K. Buitelaar, Sarah Baumeister, Tony Charman, Michael V. Lombardo, Isotta Landi, Richard A. I. Bethlehem, Rosemary Holt, Veronica Mandelli, Christine Ecker, Natasha Bertelsen, Julian Tillmann, Declan G. Murphy, Christian F. Beckmann, Jakob Seidlitz, Eleonora Satta, Mark H. Johnson, Will Spooren, Simon Baron-Cohen, Guillaume Dumas, Luke Mason, Emily J.H. Jones, Thomas Bourgeron |
المساهمون: | Istituto Italiano di Tecnologia (IIT), University of Trento [Trento], University of Cambridge [UK] (CAM), Children’s Hospital of Philadelphia (CHOP ), University of Pennsylvania, University of Cyprus [Nicosia] (UCY), University of Edinburgh, King‘s College London, Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Universität Heidelberg [Heidelberg] = Heidelberg University, Radboud University Medical Center [Nijmegen], Karolinska Institutet [Stockholm], Stockholm Health Care Services (SLSO), Curtin University [Perth], Planning and Transport Research Centre (PATREC), University Medical Center [Utrecht], Goethe-Universität Frankfurt am Main, University of London [London], Monash University [Melbourne], University of Messina, Università Campus Bio-Medico di Roma / University Campus Bio-Medico of Rome ( UCBM), University of Vienna [Vienna], Roche Pharma Research and Early Development [Basel] (pRED), F. Hoffmann-La Roche [Basel], Centre for Addiction and Mental Health [Toronto] (CAMH), The Hospital for sick children [Toronto] (SickKids), University of Toronto, National Taiwan University [Taiwan] (NTU), This project has received funding from the European Research Council (ERC) under the European Union’s Horizon 2020 research and innovation programme under grant agreement No 755816 (ERC Starting Grant to MVL). This work was also supported by EU-AIMS and EU AIMS-2-TRIALS, which both received support from the Innovative Medicines Initiative Joint Undertaking under Grant Agreement No. 115300 and the Innovative Medicines Initiative 2 Joint Undertaking under Grant Agreement No. 777394, the resources of which are composed of financial contributions from the European Union’s Seventh Framework Programme (Grant No. FP7/2007–2013), from the European Federation of Pharmaceutical Industries and Associations companies’ in-kind contributions, and from Autism Speaks, Autistica and the Simons Foundation for Autism Research Initiative. The views expressed are those of the author(s) and not necessarily those of the IMI 2JU. This work was also supported by the Netherlands Organization for Scientific Research through Vidi grants (Grant No. 864.12.003 [to CFB]), from the FP7 (Grant Nos. 602805) (AGGRESSOTYPE) (to JKB), 603016 (MATRICS), and 278948 (TACTICS), and from the European Community’s Horizon 2020 Programme (H2020/2014–2020) (Grant Nos. 643051 [MiND] and 642996 (BRAINVIEW). This work received funding from the Wellcome Trust UK Strategic Award (Award No. 098369/Z/12/Z) and from the National Institute for Health Research Maudsley Biomedical Research Centre (to DGMM). M-CL was supported by the Academic Scholars Award from the Department of Psychiatry, University of Toronto, the Slaight Family Child and Youth Mental Health Innovation Fund from the CAMH Foundation, the Ontario Brain Institute via the Province of Ontario Neurodevelopmental Disorders (POND) Network (IDS-I l-02), the Canadian Institutes of Health Research Sex and Gender Science Chair (GSB 171373), and the Innovation Fund of the Alternative Funding Plan for the Academic Health Sciences Centres of Ontario (CAM-20-004). R.A.I.B acknowledges research support by the Autism Research Trust and a British Academy Fellowship (PF2\180017). MHJ, TC, and EJHJ acknowledge support from a UK MRC Programme Grant., the EU-AIMS LEAP group : Jumana Ahmad, Sara Ambrosino, Bonnie Auyeung, Tobias Banaschewski, Simon Baron-Cohen, Sarah Baumeister, Christian F. Beckmann, Sven Bölte, Thomas Bourgeron, Carsten Bours, Michael Brammer, Daniel Brandeis, Claudia Brogna, Yvette de Bruijn, Jan K. Buitelaar, Bhismadev Chakrabarti, Tony Charman, Chris Chatham, Ineke Cornelissen, Daisy Crawley, Flavio Dell’Acqua, Guillaume Dumas, Sarah Durston, Christine Ecker, Jessica Faulkner, Vincent Frouin, Pilar Garcés, David Goyard, Lindsay Ham, Hannah Hayward, Joerg Hipp, Rosemary J. Holt, Mark H. Johnson, Emily J. H. Jones, Prantik Kundu, Meng-Chuan Lai, Xavier Liogier D’ardhuy, Michael V. Lombardo, Eva Loth, David J. Lythgoe, René Mandl, Andre Marquand, Luke Mason, Maarten Mennes, Andreas Meyer-Lindenberg, Carolin Moessnang, Nico Mueller, Declan G. M. Murphy, Bethany Oakley, Laurence O’Dwyer, Marianne Oldehinkel, Bob Oranje, Gahan Pandina, Antonio M. Persico, Barbara Ruggeri, Amber N. V. Ruigrok, Jessica Sabet, Roberto Sacco, Antonia San José Cáceres, Emily Simonoff, Will Spooren, Julian Tillmann, Roberto Toro, Heike Tost, Jack Waldman, Steve C. R. Williams, Caroline Wooldridge & Marcel P. Zwiers, European Project: 0755816(2008), European Project: 115300,EC:FP7:SP1-JTI,IMI-JU-03-2010,EU-AIMS(2012), European Project: 602805,EC:FP7:HEALTH,FP7-HEALTH-2013-INNOVATION-1,AGGRESSOTYPE(2013), European Project: 603016,EC:FP7:HEALTH,FP7-HEALTH-2013-INNOVATION-1,MATRICS(2014), European Project: 278948,EC:FP7:HEALTH,FP7-HEALTH-2011-two-stage,TACTICS(2012), European Project: 643051,H2020,H2020-MSCA-ITN-2014,MiND(2015), European Project: 642996,H2020,H2020-MSCA-ITN-2014,BRAINVIEW(2015), University of Pennsylvania [Philadelphia], University of Cyprus (UCY), Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Universität Heidelberg [Heidelberg], Bethlehem, Richard A I [0000-0002-0714-0685], Seidlitz, Jakob [0000-0002-8164-7476], Bourgeron, Thomas [0000-0001-8164-9220], Charman, Tony [0000-0003-1993-6549], Persico, Antonio M [0000-0001-8910-4479], Lombardo, Michael V [0000-0001-6780-8619], Apollo - University of Cambridge Repository, Bethlehem, Richard AI [0000-0002-0714-0685] |
المصدر: | Communications Biology Communications Biology, 2021, 4 (1), pp.574. ⟨10.1038/s42003-021-02015-2⟩ Bertelsen, N, Landi, I, Bethlehem, R A I, Seidlitz, J, Busuoli, E M, Mandelli, V, Satta, E, Trakoshis, S, Auyeung, B, Kundu, P, Loth, E, Dumas, G, Baumeister, S, Beckmann, C F, Bölte, S, Bourgeron, T, Charman, T, Durston, S, Ecker, C, Holt, R J, Johnson, M H, Jones, E J H, Mason, L, Meyer-lindenberg, A, Moessnang, C, Oldehinkel, M, Persico, A M, Tillmann, J, Williams, S C R, Spooren, W, Murphy, D G M, Buitelaar, J K, Baron-cohen, S, Lai, M & Lombardo, M V 2021, ' Imbalanced social-communicative and restricted repetitive behavior subtypes of autism spectrum disorder exhibit different neural circuitry ', Communications biology, vol. 4, no. 1, 574 . https://doi.org/10.1038/s42003-021-02015-2 Communications Biology, Nature Publishing Group, 2021, 4 (1), pp.574. ⟨10.1038/s42003-021-02015-2⟩ Communications Biology, Vol 4, Iss 1, Pp 1-13 (2021) Communications Biology, 4, 1 Communications Biology, 4 |
بيانات النشر: | HAL CCSD, 2021. |
سنة النشر: | 2021 |
مصطلحات موضوعية: | Male, 0301 basic medicine, Autism Spectrum Disorder, Stress-related disorders Donders Center for Medical Neuroscience [Radboudumc 13], Medicine (miscellaneous), MESH: Magnetic Resonance Imaging, 0302 clinical medicine, 130 000 Cognitive Neurology & Memory, MESH: Child, Neural Pathways, Biology (General), Child, MESH: Autism Spectrum Disorder, MESH: Child Behavior Disorders, Communication, 220 Statistical Imaging Neuroscience, Hyperconnectivity, Autism spectrum disorders, Magnetic Resonance Imaging, Autism spectrum disorder, Female, MESH: Communication, General Agricultural and Biological Sciences, MESH: Stereotyped Behavior, QH301-705.5, autism spectrum disorders, Child Behavior Disorders, Biology, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Neuroimaging, mental disorders, medicine, Biological neural network, Humans, Association (psychology), MESH: Neurodevelopmental Disorders, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], MESH: Humans, Resting state fMRI, Genetic heterogeneity, MESH: Neural Pathways, [SCCO.NEUR]Cognitive science/Neuroscience, medicine.disease, MESH: Male, 030104 developmental biology, Neurodevelopmental Disorders, Autism, Stereotyped Behavior, Neuroscience, MESH: Female, 030217 neurology & neurosurgery |
الوصف: | Social-communication (SC) and restricted repetitive behaviors (RRB) are autism diagnostic symptom domains. SC and RRB severity can markedly differ within and between individuals and may be underpinned by different neural circuitry and genetic mechanisms. Modeling SC-RRB balance could help identify how neural circuitry and genetic mechanisms map onto such phenotypic heterogeneity. Here, we developed a phenotypic stratification model that makes highly accurate (97–99%) out-of-sample SC = RRB, SC > RRB, and RRB > SC subtype predictions. Applying this model to resting state fMRI data from the EU-AIMS LEAP dataset (n = 509), we find that while the phenotypic subtypes share many commonalities in terms of intrinsic functional connectivity, they also show replicable differences within some networks compared to a typically-developing group (TD). Specifically, the somatomotor network is hypoconnected with perisylvian circuitry in SC > RRB and visual association circuitry in SC = RRB. The SC = RRB subtype show hyperconnectivity between medial motor and anterior salience circuitry. Genes that are highly expressed within these networks show a differential enrichment pattern with known autism-associated genes, indicating that such circuits are affected by differing autism-associated genomic mechanisms. These results suggest that SC-RRB imbalance subtypes share many commonalities, but also express subtle differences in functional neural circuitry and the genomic underpinnings behind such circuitry. Natasha Bertelsen et al. develop a computational model to categorize patients with autism spectrum disorder (ASD) into distinct subgroups, based on social-communicative or restricted repetitive behaviors. By integrating publicly available neuroimaging and genetic data, they report neural and molecular signatures in two of these subgroups, altogether highlighting subtle differences in neural circuitry and genomic networks that could underlie phenotypic differences among ASD patients. |
وصف الملف: | application/pdf |
اللغة: | English |
تدمد: | 2399-3642 |
URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44a403a94d5c38354b716c249e885fcf https://hal-pasteur.archives-ouvertes.fr/pasteur-03325356 |
حقوق: | OPEN |
رقم الأكسشن: | edsair.doi.dedup.....44a403a94d5c38354b716c249e885fcf |
قاعدة البيانات: | OpenAIRE |
تدمد: | 23993642 |
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