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A clinicopathological study of autism

Bailey, A·1998·Brain
DOI 10.1093/brain/121.5.889
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Abstract

A neuropathological study of autism was established and brain tissue examined from six mentally handicapped subjects with autism. Clinical and educational records were obtained and standardized diagnostic interviews conducted with the parents of cases not seen before death. Four of the six brains were megalencephalic, and areas of cortical abnormality were identified in four cases. There were also developmental abnormalities of the brainstem, particularly of the inferior olives. Purkinje cell number was reduced in all the adult cases, and this reduction was sometimes accompanied by gliosis. The findings do not support previous claims of localized neurodevelopmental abnormalities. They do point to the likely involvement of the cerebral cortex in autism.

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  • In postmortem brains of autistic individuals, there is a significant decrease in Purkinje cells, primarily in the posterolateral neocerebellar cortex and adjacent archicerebellar cortex of the cerebellar hemispheres, across age, sex, and cognitive ability.

    “almost all of the postmortem brains of autistic individuals studied to date, regardless of age, sex, and cognitive ability, have shown a significant decrease in the number of Purkinje cells (PC), primarily in the posterolateral neocerebellar cortex and adjacent archicerebellar cortex of the cerebellar hemispheres [4–7].”

    From Consensus Paper: Pathological Role of the Cerebellum in Autism (2012) · cites this paper as [5]

  • Post-mortem studies document reduced Purkinje cell size and number in autistic disorder.

    “Post-mortem studies have documented reduced Purkinje cell size and number in autistic disorder (AD) [5].”

    From Consensus Paper: Pathological Role of the Cerebellum in Autism (2012) · cites this paper as [5]

  • In ASD, neural migration and cortical laminar organization, stages that occur in second and third trimesters, are abnormal.

    “In ASD, neural migration and cortical laminar organization, stages that occur in second and third trimesters, are also abnormal (Fig. 2) [34, 45–48].”

    From The ASD Living Biology: from cell proliferation to clinical phenotype (2019) · cites this paper as [48]

  • A subset of subjects with ASD have olivary dysplasia and abnormally placed neurons relative to the olivary complex.

    “Similarly, a subset of subjects with ASD have olivary dysplasia and abnormally placed neurons, relative to the olivary complex [19].”

    From Autism spectrum disorder: neuropathology and animal models (2017) · cites this paper as [19]

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Authors
Bailey, A.
Corresponding author
Bailey, A
Venue
Brain
Publisher
Oxford University Press (OUP)
Published
1998-05-01
Volume
121
Issue
5
Pages
889-905
ISSN
  • 0006-8950 (ISSN-L)
  • 1460-2156
DOI
10.1093/brain/121.5.889
OpenAlex
W2139399313
Cited by
1,083
References
47
Citations by year
2026: 8 · 2025: 18 · 2024: 25 · 2023: 23 · 2022: 27 · 2021: 34 · 2020: 31 · 2019: 34 · 2018: 31 · 2017: 36 · 2016: 50 · 2015: 48 · 2014: 47 · 2013: 61 · 2012: 56
FWCI
14.07
Type
journal article
Language
en
Open access
closed
Locations
  • Brain (publishedVersion)
  • PubMed (publishedVersion)
  • Research Portal (King's College London) (submittedVersion)
Funders
Medical Research Council
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, megalencephaly, cortical abnormalities, inferior olive, Purkinje cells, Purkinje cell degeneration, gliosis, cerebral cortex, neurodevelopmental abnormalities, intellectual disability
MeSH terms
Adult, Autistic Disorder, Brain, Brain Stem, Cell Count, Cerebral Cortex, Child, Preschool, Female, Humans, Male, Purkinje Cells, Case-Control Studies, Age of Onset

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