4 - Bailey et al. (1998) and Kemper & Bauman
(1998)
Bailey et al. (1998) reported postmortem
abnormalities in brains from six individuals with autism,
all male [1]. All who lived to maturity were found to
have reduced numbers of cerebellar Purkinje cells
and anomalies of the inferior olives. Bailey et al.
noted a tendency for the brains to be larger than
average and in four cases to have ectopic groups of
neurons.
Ectopic tissue is a clear sign of maldevelopment,
and is also observed in fetal alcohol syndrome [2[].
Whether prenatal exposure to alcohol could have
been a factor was not reported, but the finding of
ectopic groups of neurons in the brain puts these four
cases of Bailey et al. in the same category as those
with fetal alcohol syndrome, tuberous sclerosis, or
neurolipidosis. The finding of ectopic neurons implies
a more widespread disorder, which also happened to
affect the areas of the brain involved in the core
syndrome of autism.
Brain weights were at the high end or above the
normal range in the four cases in which neuronal
ectopia were found. The child who died at age four
had a larger than average total brain weight, but the
brainstem and cerebellum were noted to be small, and
the midbrain was noted to be especially small.
Kemper and Bauman (1998) examined the brains
of nine autistic individuals [3]. They noted that brain
weights tended to be greater than average for
children younger than 12 years of age, but less than
average for autistic subjects older than 18. In every
case, they found reduced Purkinje cell numbers in the
cerebellum and abnormalities of the inferior olives.
Kemper and Bauman additionally in every case
described smaller and more densely distributed
neurons in the limbic system, including the mammillary
bodies.
- Bailey A, Luthert P, Dean A,
Harding B, Janota I,
Montgomery M, Rutter M,
Lantos P (1998) A
clinicopathological study of
autism. Brain 121:889-905.
- Roebuck TM, Mattson SN,
Riley EP (1998) A review of
the neuroanatomical
findings in children with fetal
alcohol syndrome or
prenatal exposure to alcohol.
Alcoholism, Clinical and
Experimental Research 22:
339-44
- Kemper TL, Bauman M
(1998). Neuropathology of
infantile autism. Journal of
Neuropathology and
Experimental Neurology 57:
645-652.
- Bauman M, Kemper TL
(1985) Histoanatomic
observations of the brain in
early infantile autism.
Neurology 35:866-874 .
Notes on postmortem findings of Bauman & Kemper (1985)
Case 1 – Male, age 29
Brain: No gross lesions. Cell packing density increased in all areas of the
hippocampus, subiculum, entorhinal cortex, mammillary body, medial septal nucleus,
and amygdaloid complex. Decreased number of neurons in the diagonal band of
Broca. Atrophy of neocerebellar cortex. Marked loss of Purkinje cells and to a
lesser extent granule cells in the biventer, gracile, tonsil and inferior semilunar
lobules; the anterior lobe and vermis showed no abnormality. Reduced numbers and
small pale neurons in the fastigial, globose, and emboliform nuclei. Dentate nucleus
distorted in shape. Small pale neurons in the inferior olive, but retrograde cell loss
due to cerebellar abnormalities not found. Widening of the fourth ventricle with
thinning and elongation of the superior cerebellar peduncles.
Clinical: Sat at 6 months and walked at 14 months. Single words at 12 months, but
speech development stopped at age 2 ½ after which he never spoke more than two-
word phrases. Major motor seizures began at age 21. Mild ventricular dilation on
pneumoencephalogram. Short attention span. No eye contact. Responded
inconsistently to his name.
Notes on postmortem findings of Bailey et al. (1998)
Case 1 - Male, age 4
Brain: Weight 1525 g. Weight of brainstem and cerebellum low, 145 g.
Hyperconvoluted temporal lobes. Upwardly rotated hippocampus. Posterior septum
pellucidum absent. Widening of sulci of the superior cerebellar vermis. Abnormal
inferior olives. Ectopic neurons. Midbrain unusually small. Neuronal cell inclusions.
Clinical: Sat at 9 months, walked at 29 months. Hyperacusis
Case 2 - Male, age 23
Brain: Weight 1600 g. Ectopic neurons near inferior olives. Reduced Purkinje
cells. Thickened unusually cellular cortex. Corpus callosum was thin. Increased
neuronal density in hippocampus.
Clinical: Sat at 7 months, walked at 1 year. Labor induced at 42 weeks. Self injury.
Liked music. Limited facial expression. Aggressive.
Case 3 – Male, age 27
Brain: Weight 1450 g. Pale substantia nigra. Inferior olives abnormal. Ectopic
neurons near inferior olives. Widespread patchy decrease in Purkinje cell numbers.
Neuronal density increased in hippocampus.
Clinical: Sat at 11 months, stood at 18 months, walked at 25 months. Skull fracture
at age 6. Seizure disorder began at age 13. Enjoyed music. Hand wringing.
Case 4 – Male, age 24
Brain: Weight 1805 g. Number of Purkinje cells reduced in all areas of cerebellum
Clinical: Sat at 6 months, walked at 16 months. Seizure disorder began at age 19.
Liked music. Rigid facial expression.
Case 5 – Male, age 20
Brain: Weight 1405 g. Inferior olives abnormal. Decreased Purkinje cell density.
Capillary engorgement in grey matter.
Clinical: Sat at 8 months, walked at 16 months. Seizure disorder began at age 11.
Poor articulation. Limited facial expression
Case 6 – Male, age 24
Brain: Weight 1820 g. Decreased Purkinje cell density.
Clinical: Forceps delivery. Seizure disorder. Hyperacusis.
- Bailey A, Luthert P, Dean A, Harding B, Janota I, Montgomery M, Rutter M, Lantos P (1998) A
clinicopathological study of autism. Brain 121:889-905.
- Roebuck TM, Mattson SN, Riley EP (1998) A review of the neuroanatomical findings in
children with fetal alcohol syndrome or prenatal exposure to alcohol. Alcoholism, Clinical and
Experimental Research 22:339-44
- Kemper TL, Bauman M (1998). Neuropathology of infantile autism. Journal of Neuropathology
and Experimental Neurology 57:645-652.
- Bauman M, Kemper TL (1985) Histoanatomic observations of the brain in early infantile
autism. Neurology 35:866-874 .