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Probing the Brain in Autism Using fMRI and Diffusion Tensor Imaging
Published on: September 12, 2011
Interindividual Differences in Cortical Thickness and Their Genomic Underpinnings in Autism Spectrum Disorder
Christine Ecker1, Charlotte M Pretzsch1, Anke Bletsch1
1Department of Child and Adolescent Psychiatry, University Hospital, Goethe University, Frankfurt am Main, Germany (Ecker, Bletsch, Mann, Schaefer, Yousaf, Chiocchetti, Bast, Freitag); Department of Forensic and Neurodevelopmental Sciences (Ecker, Pretzsch, Dell'Acqua, Puts, Loth, Murphy) and Department of Psychology (Tillmann, Charman), Institute of Psychiatry, Psychology, and Neuroscience, King's College London; Department of Psychiatry, University Medical Center Utrecht Brain Center, Utrecht University, Utrecht, the Netherlands (Ambrosino, Durston); Laboratory for Autism and Neurodevelopmental Disorders, Center for Neuroscience and Cognitive Systems, University of Trento, Istituto Italiano di Tecnologia, Rovereto, Italy (Lombardo); Autism Research Centre, Department of Psychiatry, University of Cambridge, Cambridge, U.K. (Lombardo, Warrier, Baron-Cohen); Department of Psychiatry and Psychotherapy (Moessnang, Baumeister, Meyer-Lindenberg) and Department of Child and Adolescent Psychiatry (Moessnang, Baumeister, Banaschewski), Central Institute of Mental Health, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany; Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition, and Behavior, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands (Floris, Zabihi, Marquand, Beckmann, Buitelaar); Human Genetics and Cognitive Functions Unit, Institut Pasteur, University of Paris, Paris (Cliquet, Leblond, Moreau, Dumas, Bourgeron); Centre for Brain and Cognitive Development, Birkbeck, University of London, London (Jones, Mason); Center for Neurodevelopmental Disorders (KIND), Center for Psychiatry Research, Department of Women's and Children's Health, Karolinska Institutet and Stockholm Health Care Services, and Department of Child and Adolescent Psychiatry, Stockholm Health Care Services, Region Stockholm, Sweden (Bölte); Department of Child and Adolescent Neuropsychiatry, Gaetano Martino University Hospital, University of Messina, Messina, Italy (Persico); Roche Pharmaceutical Research and Early Development, NORD Discovery and Translational Area, Roche Innovation Center Basel, Switzerland (Spooren).
Autism spectrum disorder (ASD) brain anatomy differences correlate with genetic factors and symptom severity. This research links brain structure variations to specific biological pathways for better ASD subtyping and targeted therapies.
Area of Science:
- Neuroscience
- Genetics
- Psychiatry
Background:
- Autism spectrum disorder (ASD) presents with diverse neuroanatomical variations.
- These variations may be linked to specific genetic profiles and clinical presentations.
- Understanding these links is crucial for developing targeted interventions.
Purpose of the Study:
- To investigate the relationship between brain anatomy differences and genetic underpinnings in ASD.
- To explore neurodevelopmental variations in cortical thickness and their genomic associations.
- To examine how these differences relate to clinical phenotypes, particularly sensory features.
Main Methods:
- Analysis of cortical thickness and genomic data in 360 individuals with ASD and 279 controls (ages 6-30).
- Utilized the EU-AIMS Longitudinal European Autism Project (LEAP) dataset.
- Examined differences between ASD subgroups based on sensory feature severity.
Main Results:
- Individuals with ASD showed neuroanatomical differences in fronto-temporal and cingulate regions, and wider neural systems.
- These atypical regions were enriched for ASD-implicated genes.
- Neuroanatomical atypicality correlated with ASD polygenic scores, symptom severity, and distinct sensory subgroups.
Conclusions:
- Confirmed the link between macroscopic brain anatomy and molecular mechanisms in ASD heterogeneity.
- Findings support ASD stratification and subtyping based on neurobiological and genetic factors.
- Identified potential targets for future therapeutic interventions and personalized medicine.
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