Specificity of cerebellar vermian abnormalities in autism: A quantitative magnetic resonance imaging study

Walter E. Kaufmann, Karen L. Cooper, Stewart H. Mostofsky, George T. Capone, Wendy R. Kates, Craig Newschaffer, Irena Bukelis, Mariah H. Stump, Adelene E. Jann, Diane C. Lanham

Research output: Contribution to journalArticle

119 Citations (Scopus)

Abstract

To gain insight into the specificity of cerebellar vermian abnormalities reported in autism, we conducted a magnetic resonance imaging (MRI) study of boys with either of two conditions associated with autism, Down syndrome and fragile X syndrome, compared with boys with idiopathic autism and controls. The subjects, ranging in age from 3 to 9 years, included 16 boys with Down syndrome + autism and 11 boys with Down syndrome only; 13 boys with fragile X syndrome + autism and 9 boys with fragile X syndrome only; 10 boys with idiopathic autism; and 22 controls. Diagnosis of autism was based on DSM-IV criteria, confirmed primarily by the Autism Diagnostic Interview. T1-weighted midsagittal MRIs were used to measure midline structures. Intracranial area, reflecting brain size, was significantly smaller in subjects with Down syndrome. Therefore, all vermian measures were expressed as ratios to intracranial area. Analysis of covariance (covarying for age and IQ) demonstrated that posterior vermi (lobules VI-VII and VIII-X) were markedly smaller in both Down syndrome groups and those with fragile X syndrome only, whereas only lobules VI-VII were reduced in idiopathic autism. Factorial analyses of variance tested interactions between autism factor and the diagnosis of Down syndrome or fragile X syndrome. The size of lobules VI-VII/intracranial area was dependent on autism status only in fragile X syndrome, with ratios significantly larger in fragile X syndrome with autism with respect to fragile X syndrome only. We conclude that selective posterior vermis hypoplasia is seen not only in idiopathic autism but also in Down syndrome and some individuals with fragile X syndrome. However, reductions in vermian lobules VI and VII appear to be specific to idiopathic autism, whereas increased size of lobules VI and VII is associated with autism in fragile X syndrome. The latter results are consistent with MRI studies showing lobules VI-VII hyperplasia in a subset of subjects with idiopathic autism and cerebral and hippocampal enlargements in fragile X syndrome.

Original languageEnglish (US)
Pages (from-to)463-470
Number of pages8
JournalJournal of Child Neurology
Volume18
Issue number7
DOIs
StatePublished - Jul 1 2003

Fingerprint

Autistic Disorder
Fragile X Syndrome
Magnetic Resonance Imaging
Down Syndrome
Diagnostic and Statistical Manual of Mental Disorders
Hyperplasia
Analysis of Variance

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

Cite this

Kaufmann, Walter E. ; Cooper, Karen L. ; Mostofsky, Stewart H. ; Capone, George T. ; Kates, Wendy R. ; Newschaffer, Craig ; Bukelis, Irena ; Stump, Mariah H. ; Jann, Adelene E. ; Lanham, Diane C. / Specificity of cerebellar vermian abnormalities in autism : A quantitative magnetic resonance imaging study. In: Journal of Child Neurology. 2003 ; Vol. 18, No. 7. pp. 463-470.
@article{1c404c341d6443809438ed0ae18c9d08,
title = "Specificity of cerebellar vermian abnormalities in autism: A quantitative magnetic resonance imaging study",
abstract = "To gain insight into the specificity of cerebellar vermian abnormalities reported in autism, we conducted a magnetic resonance imaging (MRI) study of boys with either of two conditions associated with autism, Down syndrome and fragile X syndrome, compared with boys with idiopathic autism and controls. The subjects, ranging in age from 3 to 9 years, included 16 boys with Down syndrome + autism and 11 boys with Down syndrome only; 13 boys with fragile X syndrome + autism and 9 boys with fragile X syndrome only; 10 boys with idiopathic autism; and 22 controls. Diagnosis of autism was based on DSM-IV criteria, confirmed primarily by the Autism Diagnostic Interview. T1-weighted midsagittal MRIs were used to measure midline structures. Intracranial area, reflecting brain size, was significantly smaller in subjects with Down syndrome. Therefore, all vermian measures were expressed as ratios to intracranial area. Analysis of covariance (covarying for age and IQ) demonstrated that posterior vermi (lobules VI-VII and VIII-X) were markedly smaller in both Down syndrome groups and those with fragile X syndrome only, whereas only lobules VI-VII were reduced in idiopathic autism. Factorial analyses of variance tested interactions between autism factor and the diagnosis of Down syndrome or fragile X syndrome. The size of lobules VI-VII/intracranial area was dependent on autism status only in fragile X syndrome, with ratios significantly larger in fragile X syndrome with autism with respect to fragile X syndrome only. We conclude that selective posterior vermis hypoplasia is seen not only in idiopathic autism but also in Down syndrome and some individuals with fragile X syndrome. However, reductions in vermian lobules VI and VII appear to be specific to idiopathic autism, whereas increased size of lobules VI and VII is associated with autism in fragile X syndrome. The latter results are consistent with MRI studies showing lobules VI-VII hyperplasia in a subset of subjects with idiopathic autism and cerebral and hippocampal enlargements in fragile X syndrome.",
author = "Kaufmann, {Walter E.} and Cooper, {Karen L.} and Mostofsky, {Stewart H.} and Capone, {George T.} and Kates, {Wendy R.} and Craig Newschaffer and Irena Bukelis and Stump, {Mariah H.} and Jann, {Adelene E.} and Lanham, {Diane C.}",
year = "2003",
month = "7",
day = "1",
doi = "10.1177/08830738030180070501",
language = "English (US)",
volume = "18",
pages = "463--470",
journal = "Journal of Child Neurology",
issn = "0883-0738",
publisher = "SAGE Publications Inc.",
number = "7",

}

Kaufmann, WE, Cooper, KL, Mostofsky, SH, Capone, GT, Kates, WR, Newschaffer, C, Bukelis, I, Stump, MH, Jann, AE & Lanham, DC 2003, 'Specificity of cerebellar vermian abnormalities in autism: A quantitative magnetic resonance imaging study', Journal of Child Neurology, vol. 18, no. 7, pp. 463-470. https://doi.org/10.1177/08830738030180070501

Specificity of cerebellar vermian abnormalities in autism : A quantitative magnetic resonance imaging study. / Kaufmann, Walter E.; Cooper, Karen L.; Mostofsky, Stewart H.; Capone, George T.; Kates, Wendy R.; Newschaffer, Craig; Bukelis, Irena; Stump, Mariah H.; Jann, Adelene E.; Lanham, Diane C.

In: Journal of Child Neurology, Vol. 18, No. 7, 01.07.2003, p. 463-470.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Specificity of cerebellar vermian abnormalities in autism

T2 - A quantitative magnetic resonance imaging study

AU - Kaufmann, Walter E.

AU - Cooper, Karen L.

AU - Mostofsky, Stewart H.

AU - Capone, George T.

AU - Kates, Wendy R.

AU - Newschaffer, Craig

AU - Bukelis, Irena

AU - Stump, Mariah H.

AU - Jann, Adelene E.

AU - Lanham, Diane C.

PY - 2003/7/1

Y1 - 2003/7/1

N2 - To gain insight into the specificity of cerebellar vermian abnormalities reported in autism, we conducted a magnetic resonance imaging (MRI) study of boys with either of two conditions associated with autism, Down syndrome and fragile X syndrome, compared with boys with idiopathic autism and controls. The subjects, ranging in age from 3 to 9 years, included 16 boys with Down syndrome + autism and 11 boys with Down syndrome only; 13 boys with fragile X syndrome + autism and 9 boys with fragile X syndrome only; 10 boys with idiopathic autism; and 22 controls. Diagnosis of autism was based on DSM-IV criteria, confirmed primarily by the Autism Diagnostic Interview. T1-weighted midsagittal MRIs were used to measure midline structures. Intracranial area, reflecting brain size, was significantly smaller in subjects with Down syndrome. Therefore, all vermian measures were expressed as ratios to intracranial area. Analysis of covariance (covarying for age and IQ) demonstrated that posterior vermi (lobules VI-VII and VIII-X) were markedly smaller in both Down syndrome groups and those with fragile X syndrome only, whereas only lobules VI-VII were reduced in idiopathic autism. Factorial analyses of variance tested interactions between autism factor and the diagnosis of Down syndrome or fragile X syndrome. The size of lobules VI-VII/intracranial area was dependent on autism status only in fragile X syndrome, with ratios significantly larger in fragile X syndrome with autism with respect to fragile X syndrome only. We conclude that selective posterior vermis hypoplasia is seen not only in idiopathic autism but also in Down syndrome and some individuals with fragile X syndrome. However, reductions in vermian lobules VI and VII appear to be specific to idiopathic autism, whereas increased size of lobules VI and VII is associated with autism in fragile X syndrome. The latter results are consistent with MRI studies showing lobules VI-VII hyperplasia in a subset of subjects with idiopathic autism and cerebral and hippocampal enlargements in fragile X syndrome.

AB - To gain insight into the specificity of cerebellar vermian abnormalities reported in autism, we conducted a magnetic resonance imaging (MRI) study of boys with either of two conditions associated with autism, Down syndrome and fragile X syndrome, compared with boys with idiopathic autism and controls. The subjects, ranging in age from 3 to 9 years, included 16 boys with Down syndrome + autism and 11 boys with Down syndrome only; 13 boys with fragile X syndrome + autism and 9 boys with fragile X syndrome only; 10 boys with idiopathic autism; and 22 controls. Diagnosis of autism was based on DSM-IV criteria, confirmed primarily by the Autism Diagnostic Interview. T1-weighted midsagittal MRIs were used to measure midline structures. Intracranial area, reflecting brain size, was significantly smaller in subjects with Down syndrome. Therefore, all vermian measures were expressed as ratios to intracranial area. Analysis of covariance (covarying for age and IQ) demonstrated that posterior vermi (lobules VI-VII and VIII-X) were markedly smaller in both Down syndrome groups and those with fragile X syndrome only, whereas only lobules VI-VII were reduced in idiopathic autism. Factorial analyses of variance tested interactions between autism factor and the diagnosis of Down syndrome or fragile X syndrome. The size of lobules VI-VII/intracranial area was dependent on autism status only in fragile X syndrome, with ratios significantly larger in fragile X syndrome with autism with respect to fragile X syndrome only. We conclude that selective posterior vermis hypoplasia is seen not only in idiopathic autism but also in Down syndrome and some individuals with fragile X syndrome. However, reductions in vermian lobules VI and VII appear to be specific to idiopathic autism, whereas increased size of lobules VI and VII is associated with autism in fragile X syndrome. The latter results are consistent with MRI studies showing lobules VI-VII hyperplasia in a subset of subjects with idiopathic autism and cerebral and hippocampal enlargements in fragile X syndrome.

UR - http://www.scopus.com/inward/record.url?scp=0042423534&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0042423534&partnerID=8YFLogxK

U2 - 10.1177/08830738030180070501

DO - 10.1177/08830738030180070501

M3 - Article

C2 - 12940651

AN - SCOPUS:0042423534

VL - 18

SP - 463

EP - 470

JO - Journal of Child Neurology

JF - Journal of Child Neurology

SN - 0883-0738

IS - 7

ER -