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Cited by 242Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersChild Nutrition and Feeding Issues

Microscopic Neuroanatomic Abnormalities in Autism

Bauman, Margaret L.·1991·Pediatrics
DOI 10.1542/peds.87.5.791
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Abstract

Since its initial description in 1943,1 autism has been primarily conceptualized as a behavioral disorder, and for many years it was believed to be the result of parental and environmental influences. With heightened clinical interest in the disorder, coincident with advances in medical technology, however, evidence for an underlying neurologic basis for autism has become increasingly apparent. HISTORICAL NEUROPATHOLOGIC PERSPECTIVE Based largely on the constellation of symptoms that characterize the disorder, various anatomical sites within the brain have been suggested as a possible primary source of pathology in autism. Suspected regions have included the medial temporal lobe,2-5 the thalamic nuclei,6 the basal ganglia,7 and the vestibular system.8 Computed tomographic imaging studies have shown inconsistent findings.9-14 More recently, however, magnetic resonance imaging studies have described abnormalities in portions of the cerebellum and posterior fossa.15-17 Direct microscopic examination of the autistic brain has, until recently, yielded little information. Aarkrog18 reported "slight thickening of the arterioles, slight connective tissue increase in the leptomeninges, and some cell increase" in a frontal lobe biopsy performed on an autistic patient. Later, in 1976, 33 cases of childhood psychosis were reviewed by Darby.19 Although he suggested a possible correlation between limbic system lesions and the affective symptomatology of autism, no consistent neuropathologic findings were found. In 1980, Williams et al20 studied sections of brain from four patients with autistic-like behavior; looking primarily for cell loss and gliosis, they failed to find any consistent abnormalities. MICROSCOPIC NEUROANATOMIC OBSERVATIONS In 1984, anatomic abnormalities were reported in the brain of a 29-year-old man with well-documented autism; the technique of whole brain serial section was used, and the patient was studied in comparison with an identically processed age- and sex-matched control subject.21,22

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  • The cerebellum was the first brain region shown in the late 1980s to host neuroanatomical abnormalities in many autistic individuals.

    “The cerebellum was the first brain region shown in the late 80’s to host neuroanatomical abnormalities in many autistic individuals [33, 228, 229].”

    From Consensus Paper: Pathological Role of the Cerebellum in Autism (2012) · cites this paper as [229]

  • The most frequently reported cerebellar anomalies in autism include smaller vermis volume, Purkinje cell numbers reduced by up to 50%, ectopic neurons in white matter, and patchy cytoarchitectonic ectopias in cerebellar cortex.

    “The anomalies most frequently reported include a smaller vermis volume, Purkinje cell numbers reduced by up to 50%, ectopic neurons in the white matter, and patchy cytoarchitectonic ectopias in the cerebellar cortex [32, 33, 118, 228, 229].”

    From Consensus Paper: Pathological Role of the Cerebellum in Autism (2012) · cites this paper as [229]

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Authors
Bauman, M. L.
Affiliations
Massachusetts General Hospital (US)
Corresponding author
Bauman, Margaret L.
ORCID
Bauman, Margaret L.
Venue
Pediatrics
Publisher
American Academy of Pediatrics (AAP)
Published
1991-05-01
Volume
87
Issue
5
Pages
791-796
ISSN
  • 0031-4005 (ISSN-L)
  • 1098-4275
DOI
10.1542/peds.87.5.791
OpenAlex
W4206201268
Cited by
242
References
0
Citations by year
2026: 1 · 2025: 1 · 2024: 1 · 2023: 2 · 2022: 2 · 2021: 8 · 2020: 1 · 2019: 5 · 2018: 3 · 2017: 2 · 2016: 7 · 2015: 5 · 2014: 6 · 2013: 9 · 2012: 11
FWCI
6.24
Type
journal article
Language
en
Open access
closed
Locations
  • PEDIATRICS (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed
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 › Child Nutrition and Feeding Issues
Keywords
autism spectrum disorder, neuropathology, brain biopsy, cerebellum, posterior fossa, medial temporal lobe, thalamic nuclei, basal ganglia, limbic system, gliosis, cell loss, history of autism research
MeSH terms
Adult, Autistic Disorder, Brain, Cerebellum, Child, Female, Hippocampus, Humans, Limbic System, Male

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