Cited by 81Functional Brain Connectivity StudiesAttention Deficit Hyperactivity DisorderAutism Spectrum Disorder Research

Shared endo-phenotypes of default mode dysfunction in attention deficit/hyperactivity disorder and autism spectrum disorder

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Kernbach, Julius M., Satterthwaite, Theodore D., Bassett, Danielle S., Smallwood, Jonathan, Margulies, Daniel, Krall, Sarah, Shaw, Philip, Varoquaux, Gaël +3 more·2018·Translational Psychiatry

Abstract

Categorical diagnoses from the Diagnostic and Statistical Manual of Mental Disorders (DSM) or International Classification of Diseases (ICD) manuals are increasingly found to be incongruent with emerging neuroscientific evidence that points towards shared neurobiological dysfunction underlying attention deficit/hyperactivity disorder and autism spectrum disorder. Using resting-state functional magnetic resonance imaging data, functional connectivity of the default mode network, the dorsal attention and salience network was studied in 1305 typically developing and diagnosed participants. A transdiagnostic hierarchical Bayesian modeling framework combining Indian Buffet Processes and Latent Dirichlet Allocation was proposed to address the urgent need for objective brain-derived measures that can acknowledge shared brain network dysfunction in both disorders. We identified three main variation factors characterized by distinct coupling patterns of the temporoparietal cortices in the default mode network with the dorsal attention and salience network. The brain-derived factors were demonstrated to effectively capture the underlying neural dysfunction shared in both disorders more accurately, and to enable more reliable diagnoses of neurobiological dysfunction. The brain-derived phenotypes alone allowed for a classification accuracy reflecting an underlying neuropathology of 67.33% (+/−3.07) in new individuals, which significantly outperformed the 46.73% (+/−3.97) accuracy of categorical diagnoses. Our results provide initial evidence that shared neural dysfunction in ADHD and ASD can be derived from conventional brain recordings in a data-led fashion. Our work is encouraging to pursue a translational endeavor to find and further study brain-derived phenotypes, which could potentially be used to improve clinical decision-making and optimize treatment in the future.

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  • A recent, large-scale resting-state fMRI study reported that data-driven functional connectivity features were not uniquely associated with TD, ASD or ADHD categories, but instead were dimensionally shared to greater or lesser degrees with each of these groups.

    “Supporting the notion that ASD and ADHD categories demonstrate limited neurobiological validity, a recent, large-scale resting-state fMRI study reported that data-driven functional connectivity features were not uniquely associated with TD, ASD or ADHD categories, but instead were dimensionally shared to greater or lesser degrees with each of these groups (Kernbach et al., 2018).”

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Research works printed but not linked: 3

  1. [29]Lavoie-Courchesne S., et al., (eds). Journal of Physics: Conference Series; (IOP Publishing, 2012).
  2. [44]Ghahramani Z., Griffiths T. L. & (eds). Infinite latent feature models and the Indian buffet process; (NIPS, 2006).
  3. [48]Tibshirani RJ Efron B Pre-validation and inference in microarrays Stat. Appl. Genet. Mol. Biol. 2002 1 1 10.2202/1544-6115.1000 16646777 · DOI

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Authors
Kernbach, J. M., Satterthwaite, T. D., Bassett, D. S., Smallwood, J., Margulies, D., Krall, S., Shaw, P., Varoquaux, G., Thirion, B., Konrad, K., & Bzdok, D.
Affiliations
  • RWTH Aachen University (DE)
  • University of Pennsylvania (US)
  • University of York (GB)
  • Max Planck Institute for Human Cognitive and Brain Sciences (DE)
  • National Institute of Mental Health (US)
  • Institut national de recherche en sciences et technologies du numérique (FR)
  • Forschungszentrum Jülich (DE)
Corresponding author
Bzdok, Danilo
Venue
Translational Psychiatry
Published
2018-07-17
Volume
8
Issue
1
Pages
133-133
ISSN
2158-3188 (ISSN-L)
OpenAlex
W2883705704
Cited by
81
References
61
Citations by year
2026: 4 · 2025: 9 · 2024: 7 · 2023: 9 · 2022: 10 · 2021: 15 · 2020: 15 · 2019: 10 · 2018: 2
FWCI
6.24
Type
journal article
Language
en
Open access
Locations
  • Translational Psychiatry (publishedVersion, cc-by)
  • Europe PMC (PubMed Central) (publishedVersion, other-oa)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • White Rose Research Online (University of Leeds, The University of Sheffield, University of York) (submittedVersion, other-oa)
  • RWTH Publications (RWTH Aachen) (submittedVersion, cc-by)
  • HAL (submittedVersion, other-oa)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
  • Max Planck Digital Library (submittedVersion, other-oa)
  • JuSER (Forschungszentrum Jülich) (submittedVersion, cc-by)
  • RWTH Publications (RWTH Aachen) (submittedVersion)
  • MPG.PuRe (Max Planck Society) (submittedVersion, other-oa)
  • RWTH Publications (RWTH Aachen)
Funders
  • Deutsche Forschungsgemeinschaft (BZ2/4‐1, BZ2/2‐1, BZ2/2-1, BZ2/3-1, IRTG-2150, BZ2/3-1)
  • Studienstiftung des Deutschen Volkes
  • RWTH Aachen University
Topics
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Functional Brain Connectivity Studies
  • Health Sciences › Medicine › Psychiatry and Mental health › Attention Deficit Hyperactivity Disorder
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
Keywords
attention deficit hyperactivity disorder, autism spectrum disorder, default mode network, dorsal attention network, salience network, functional connectivity, Indian Buffet Process, latent Dirichlet allocation, Bayesian hierarchical model, temporoparietal cortex, resting-state fMRI
MeSH terms
Autism Spectrum Disorder, Adolescent, Attention Deficit Disorder with Hyperactivity, Bayes Theorem, Brain, Child, Humans, Magnetic Resonance Imaging, Male, Neural Pathways, Phenotype, Psychiatric Status Rating Scales, Young Adult, Neuroimaging

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