Anatomical Abnormalities in Autism?
Open accessAbstract
Substantial controversy exists regarding the presence and significance of anatomical abnormalities in autism spectrum disorders (ASD). The release of the Autism Brain Imaging Data Exchange (∼1000 participants, age 6–65 years) offers an unprecedented opportunity to conduct large-scale comparisons of anatomical MRI scans across groups and to resolve many of the outstanding questions. Comprehensive univariate analyses using volumetric, thickness, and surface area measures of over 180 anatomically defined brain areas, revealed significantly larger ventricular volumes, smaller corpus callosum volume (central segment only), and several cortical areas with increased thickness in the ASD group. Previously reported anatomical abnormalities in ASD including larger intracranial volumes, smaller cerebellar volumes, and larger amygdala volumes were not substantiated by the current study. In addition, multivariate classification analyses yielded modest decoding accuracies of individuals' group identity (<60%), suggesting that the examined anatomical measures are of limited diagnostic utility for ASD. While anatomical abnormalities may be present in distinct subgroups of ASD individuals, the current findings show that many previously reported anatomical measures are likely to be of low clinical and scientific significance for understanding ASD neuropathology as a whole in individuals 6–35 years old.
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A recent study utilizing 590 6-35-year-old participants from the Autism Brain Imaging Data Exchange (ABIDE) achieved only 56 and 60% accuracy based on subcortical volumes and cortical thickness measures, respectively.
“A recent study utilizing 590 6–35-year-old participants from the Autism Brain Imaging Data Exchange (ABIDE38) data set, however, was more pessimistic. Using linear and non-linear discriminant analysis to perform multivariate classification based on anatomical measures (gray matter volume, cortical thickness and cortical surface area) the authors achieved only 56 and 60% accuracy based on subcorti”
From Progress and roadblocks in the search for brain-based biomarkers of autism and attention-deficit/hyperactivity disorder (2017) · cites this paper as [34]
The authors of that study take these poor decoding accuracies to indicate that anatomical differences offer very limited diagnostic value in ASD.
“The authors take these poor decoding accuracies to indicate that anatomical differences offer very limited diagnostic value in ASD.34”
From Progress and roadblocks in the search for brain-based biomarkers of autism and attention-deficit/hyperactivity disorder (2017) · cites this paper as [34]
Volume-based neuroimaging analyses may lack sufficient resolution to detect subtle morphological changes.
“Volume-based analyses undertaken using neuroimaging techniques may lack sufficient resolution to detect subtle morphological changes (see recent aggregated study in [136]).”
From Autism spectrum disorder: neuropathology and animal models (2017) · cites this paper as [136]
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- Authors
- Haar, S., Berman, S., Behrmann, M., & Dinstein, I.
- Affiliations
- Ben-Gurion University of the Negev (IL)
- Carnegie Mellon University (US)
- Corresponding author
- Haar, Shlomi
- Venue
- Cerebral Cortex
- Publisher
- Oxford University Press (OUP)
- Published
- 2014-10-14
- Volume
- 26
- Issue
- 4
- Pages
- 1440-1452
- ISSN
- 1047-3211 (ISSN-L)
- 1460-2199
- PMC
- PMC13377743
- OpenAlex
- W2108623767
- Cited by
- 292
- References
- 47
- Citations by year
- 2026: 8 · 2025: 15 · 2024: 30 · 2023: 18 · 2022: 22 · 2021: 28 · 2020: 42 · 2019: 24 · 2018: 24 · 2017: 22 · 2016: 30 · 2015: 29
- FWCI
- 15.06
- Type
- journal article
- Language
- en
- Open access
- green
- pmc.ncbi.nlm.nih.gov
- Licence
- academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_model (vor)
- Locations
- Cerebral Cortex (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- HighWire Press Open Archive (submittedVersion)
- Funders
- Simons Foundation (177638)
- NIH
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Keywords
- autism spectrum disorder, anatomical anomalies, brain structure, ventricular volume, corpus callosum, cortical thickness, brain surface area, intracranial volume, cerebellar volume, amygdala volume, brain volumetry, diagnostic classification
- MeSH terms
- Autism Spectrum Disorder, Adolescent, Adult, Aged, Autistic Disorder, Brain, Child, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Young Adult
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