Abnormality of cerebellar vermian lobules VI and VII in patients with infantile autism: identification of hypoplastic and hyperplastic subgroups with MR imaging.
Abstract
OBJECTIVE: Infantile autism is a neurobehavioral disorder that is widely believed to have etiologically distinct subtypes, including subtypes with a genetic basis, but no neuroanatomic evidence firmly supports this belief. To date, only one type of cerebellar abnormality has been identified in patients with autism: hypoplasia of the vermis and hemispheres. By using a large sample of autistic patients and healthy volunteers along with precise MR imaging and quantitative procedures, we sought to replicate previous reports of cerebellar vermian hypoplasia in autism and to identify additional subtypes of cerebellar abnormality. MATERIALS AND METHODS: Using MR technology, we imaged and measured posterior and anterior vermian regions in 50 autistic patients (2-40 years old) and 53 healthy control subjects (3-37 years old). The autistic patients had social, language, cognitive, behavioral, and medical history characteristics that were typical of the general autistic population. By using precise procedures for positioning and aligning MR slices, we obtained comparable MR images within and across subject groups. RESULTS: Statistical analyses showed two subgroups of autistic patients, one (86% of the patients) with findings consistent with vermian hypoplasia and another (12% of the patients) with evidence of vermian hyperplasia. The hypoplasia subgroup included 43 patients whose mean midsagittal area for vermian lobules VI and VII was 237 +/- 38 mm2, and the hyperplasia subgroup included six patients whose mean area was 377 +/- 12 mm2. Thus, the area of lobules VI and VII in the hypoplasia subgroup was 16% smaller than the mean area in the control subjects (282 +/- 42 mm2) (p < .0001), whereas that in the hyperplasia subgroup was 34% larger (p < .0001). Analyses showed that these two subtypes of vermian abnormalities were present across all ages of autistic patients studied. CONCLUSION: Two different subtypes of autistic patients can be identified on the basis of the presence of vermian hypoplasia or hyperplasia as seen on MR images. Possible origins for vermian hypoplasia include environmental trauma and genetic factors.
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In the vermis, no abnormalities of Purkinje cell size or number were identified in autistic individuals, so no microscopic cellular explanation for vermal hypoplasia was found.
“Despite several detailed analyses of the vermis, our studies have been unable to identify any abnormalities of PC size or number in this region, thus failing to provide any microscopic cellular explanation for vermal hypoplasia as reported by cranial imaging studies [8].”
From Consensus Paper: Pathological Role of the Cerebellum in Autism (2012) · cites this paper as [8]
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Basson, M. A., & Wingate, R. J. T. (2013) · Frontiers in Neuroanatomy · doi:10.3389/fnana.2013.00029 · Cited by 102 · see citing works
Cerebellar Lesions in Tuberous Sclerosis Complex: Neurobehavioral and Neuroimaging Correlates
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Bridging the gap between MRI and postmortem research in autism
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Studying Autism Spectrum Disorder with Structural and Diffusion Magnetic Resonance Imaging: A Survey
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Autism and the Cerebellum: Evidence from Tuberous Sclerosis
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Regional Infant Brain Development: An MRI-Based Morphometric Analysis in 3 to 13 Month Olds
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Cerebellar hypoplasia and hyperplasia in infantile autism
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Neural activity-dependent brain changes in development: Implications for psychopathology
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Cerebellar vermis lobules VIII — X in autism
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Social cognition and autism spectrum conditions
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- Authors
- Courchesne, E., Saitoh, O., Yeung-Courchesne, R., Press, G. A., Lincoln, A. J., Haas, R. H., & Schreibman, L.
- Affiliations
- University of California San Diego (US)
- Venue
- American Journal of Roentgenology
- Publisher
- American Roentgen Ray Society
- Published
- 1994-01
- Volume
- 162
- Issue
- 1
- Pages
- 123-130
- ISSN
- 0002-9580 (ISSN-L)
- 0361-803X
- 1546-3141
- OpenAlex
- W2130928858
- Cited by
- 278
- References
- 8
- Citations by year
- 2026: 4 · 2025: 4 · 2024: 4 · 2023: 4 · 2022: 1 · 2021: 10 · 2020: 4 · 2019: 5 · 2018: 10 · 2017: 7 · 2016: 11 · 2015: 8 · 2014: 12 · 2013: 13 · 2012: 14
- FWCI
- 4.51
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Roentgenology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute of Mental Health (1-R01-MH-36840, R01MH036840)
- National Institute of Neurological Disorders and Stroke (5-R01-NS 19855, R01NS019855)
- 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 › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
- Keywords
- infantile autism, cerebellar vermis, cerebellar vermis hypoplasia, autism subtypes, cerebellar morphology
- MeSH terms
- Adolescent, Adult, Autistic Disorder, Cerebellum, Child, Child, Preschool, Female, Humans, Magnetic Resonance Imaging, Male
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