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Brief Report: Life History and Neuropathology of a Gifted Man with Asperger Syndrome

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Abstract

Despite recent interest in the pathogenesis of the autism spectrum disorders (pervasive developmental disorders), neuropathological descriptions of brains of individuals with well documented clinical information and without potentially confounding symptomatology are exceptionally rare. Asperger syndrome differs from classic autism by lack of cognitive impairment or delay in expressive language acquisition. We examined the 1,570 g brain of a 63 year old otherwise healthy mathematician with an Autistic Spectrum Disorder of Asperger subtype. Except for an atypical gyral pattern and megalencephaly, we detected no specific neuropathologic abnormality. Taken together, the behavioral data and pathological findings in this case are compatible with an early neurodevelopmental process affecting multiple neuroanatomic networks, but without a convincing morphologic signature detectable with routine neuropathologic technology.

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References

  • Abrahams, B. S., & Geschwind, D. H. (2010). Connecting genes to brain in the autism spectrum disorders. Archives of Neurology, 67, 395–399.

    Article  PubMed  Google Scholar 

  • Amaral, D. G., Schumann, C. M., & Nordahl, C. W. (2008). Neuroanatomy of autism. Trends in Neurosciences, 31, 137–145.

    Article  PubMed  Google Scholar 

  • American Psychiatric Association. (2000). Diagnostic and statistical manual of mental disorders text revision: DSM IV-TR (4th ed.). Washington, DC.: American Psychiatric Association.

    Google Scholar 

  • Ariella, R. R., Ritvo, E. R., Guthrie, D., & Ritvo, M. J. (2008). Clinical evidence that Asperger’s disorder is a mild form of autism. Comprehensive Psychiatry, 49, 1–5.

    Article  Google Scholar 

  • Asperger, H. (1991). Autistic psychopathy (translation and annotation by U. Frith of the original 1944 paper). In U. Frith (Ed.), Autism and Asperger syndrome (pp. 37–92). Cambridge UK: Cambridge University Press.

    Chapter  Google Scholar 

  • Bailey, A., Luthert, P., Dean, A., Harding, B., Janota, I., Montgomery, M., et al. (1998). A clinicopathological study of autism. Brain, 121, 889–905.

    Article  PubMed  Google Scholar 

  • Baron-Cohen, S., Wheelwright, S., Skinner, R., Martin, J., & Clubley, E. (2001). The autism-spectrum quotient (AQ): Evidence from Asperger syndrome/high-functioning autism, males and females, scientists and mathematicians. Journal of Autism and Developmental Disorders, 31, 5–17.

    Article  PubMed  Google Scholar 

  • Bauman, M. L., & Kemper, T. L. (1985). Histoanatomic observations of the brain in early infantile autism. Neurology, 35, 866–874.

    PubMed  Google Scholar 

  • Bennett, T., Szatmari, P., Bryson, S., Volden, J., Zwaigenbaum, L., Vaccarella, L., et al. (2008). Differentiating autism and Asperger syndrome on the basis of language delay or impairment. Journal of Autism and Developmental Disorders, 38, 616–625.

    Article  PubMed  Google Scholar 

  • Brimacombe, M. B., Pickett, R., & Pickett, J. (2007). Autism post-mortem neuroinformatic resource: the autism tissue program (ATP) informatics portal. Journal of Autism and Developmental Disorders, 37, 574–579.

    Article  PubMed  Google Scholar 

  • Casanova, M. F. (2007). The neuropathology of autism. Brain Pathology, 17, 422–433.

    Article  PubMed  Google Scholar 

  • Casanova, M. F., Buxhoeveden, D. P., Switala, A. E., & Roy, E. (2002). Minicolumnar pathology in autism. Neurology, 58, 428–432.

    PubMed  Google Scholar 

  • Casanova, M. F., El-Baz, A., Mott, M., Mannheim, G., Hassan, H., Fahmi, R., et al. (2009). Reduced gyral window and corpus callosum size in autism: Possible macroscopic correlates of a minicolumnopathy. Journal of Autism and Developmental Disorders, 39, 751–764.

    Article  PubMed  Google Scholar 

  • Dekaban, A. S., & Sadowsky, D. (1978). Changes in brain weights during the span of human life: Relation of brain weights to body heights and body weights. Annals of Neurology, 4, 345–356.

    Article  PubMed  Google Scholar 

  • Galaburda, A. M. (1999). Albert Einstein’s brain. Lancet, 354, 1821.

    Article  PubMed  Google Scholar 

  • Gillberg, C., Billstedt, E., Sundh, V., & Gillberg, I. C. (2010). Mortality in autism: A prospective longitudinal community-based study. Journal of Autism and Developmental Disorders, 40, 352–357.

    Article  PubMed  Google Scholar 

  • Heaton, P., Davis, R. E., & Happe, F. G. (2008). Research note: Exceptional absolute pitch perception for spoken words in an able adult with autism. Neuropsychologia, 46, 2095–2098.

    Article  PubMed  Google Scholar 

  • Herbert, M. R., Ziegler, D. A., Makris, N., Filipek, P. A., Kemper, T. L., Normandin, J. J., et al. (2004). Localization of white matter volume increase in autism and developmental language disorder. Annals of Neurology, 55, 530–540.

    Article  PubMed  Google Scholar 

  • Hu, V. W., Nguyen, A., Kim, K. S., Steinberg, M. E., Sarachana, T., Scully, M. A., et al. (2009). Gene expression profiling of lymphoblasts from autistic and nonaffected sib pairs: Altered pathways in neuronal development and steroid biosynthesis your AGRE studies exclude autism due to single gene defects, but it would be interesting to know if the same protein deficiencies are found in cases with a Mendelian etiology. PLoS One, 4, e5775.

    Article  PubMed  Google Scholar 

  • Kemper, T. L., & Bauman, M. (1998). Neuropathology of infantile autism. Journal of Neuropathology and Experimental Neurology, 57, 645–652.

    Article  PubMed  Google Scholar 

  • Lewis, J. D., & Elman, J. L. (2008). Growth-related neural reorganization and the autism phenotype: A test of the hypothesis that altered brain growth leads to altered connectivity. Developmental Science, 11, 135–155.

    Article  PubMed  Google Scholar 

  • Lotspeich, L. J., Kwon, H., Schumann, C. M., Fryer, S. L., Goodlin-Jones, B. L., Buonocore, M. H., et al. (2004). Investigation of neuroanatomical differences between autism and Asperger syndrome. Archives of General Psychiatry, 61, 291–298.

    Article  PubMed  Google Scholar 

  • McAlonan, G. M., Daly, E., Kumari, V., Critchley, H. D., van Amelsvoort, T., Suckling, J., et al. (2002). Brain anatomy and sensorimotor gating in Asperger’s syndrome. Brain, 125, 1594–1606.

    Article  PubMed  Google Scholar 

  • Miller, J. N., & Ozonoff, S. (2000). The external validity of Asperger disorder: Lack of evidence from the domain of neuropsychology. Journal of Abnormal Psychology, 109, 227–238.

    Article  PubMed  Google Scholar 

  • Minshew, N. J., & Williams, D. L. (2007). The new neurobiology of autism: cortex, connectivity, and neuronal organization. Archives of Neurology, 64, 945–950.

    Article  PubMed  Google Scholar 

  • Niehus, R., & Lord, C. (2006). Early medical history of children with autism spectrum disorders. Journal of Developmental and Behavioral Pediatrics, 27, S120–S127.

    Article  PubMed  Google Scholar 

  • Nordahl, C. W., Dierker, D., Mostafavi, I., Schumann, C. M., Rivera, S. M., Amaral, D. G., et al. (2007). Cortical folding abnormalities in autism revealed by surface-based morphometry. Journal of Neuroscience, 27, 11725–11735.

    Article  PubMed  Google Scholar 

  • Palmen, S. J., van Engeland, H., Hof, P. R., & Schmitz, C. (2004). Neuropathological findings in autism. Brain, 127, 2572–2583.

    Article  PubMed  Google Scholar 

  • Pardo, C. A., Vargas, D. L., & Zimmerman, A. W. (2005). Immunity, neuroglia and neuroinflammation in autism. International Review of Psychiatry, 17, 485–495.

    Article  PubMed  Google Scholar 

  • Perkins, T., Stokes, M., McGillivray, J., & Bittar, R. (2010). Mirror neuron dysfunction in autism spectrum disorders. Journal of Clinical Neuroscience, 17, 1239–1243.

    Article  PubMed  Google Scholar 

  • Redcay, E., & Courchesne, E. (2005). When is the brain enlarged in autism? A meta-analysis of all brain size reports. Biological Psychiatry, 58, 1–9.

    Article  PubMed  Google Scholar 

  • Rushton, J. P., & Ankney, C. D. (2009). Whole brain size and general mental ability: a review. International Journal of Neuroscience, 119, 691–731.

    Article  PubMed  Google Scholar 

  • Sahyoun, C. P., Belliveau, J. W., Soulieres, I., Schwartz, S., & Mody, M. (2010). Neuroimaging of the functional and structural networks underlying visuospatial verses linguistic reasoning in high-functioning autism. Neuropsychologia, 48, 86–95.

    Article  PubMed  Google Scholar 

  • Schmitz, C., & Rezaie, P. (2008). The neuropathology of autism: Where do we stand? Neuropathology and Applied Neurobiology, 34, 4–11.

    PubMed  Google Scholar 

  • Schopler, E. (1996). Are autism and Asperger syndrome (AS) different labels or different disabilities? Journal of Autism and Developmental Disorders, 26, 109–110.

    Article  PubMed  Google Scholar 

  • Southgate, V., & Hamilton, A. F. (2008). Unbroken mirrors: Challenging a theory of Autism. Trends in Cognitive Sciences, 12, 225–229.

    Article  PubMed  Google Scholar 

  • Treffert, D. A. (2009). The savant syndrome: an extraordinary condition. A synopsis: past, present, future. Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 364, 1351–1357.

    Article  PubMed  Google Scholar 

  • Vargas, D. L., Nascimbene, C., Krishnan, C., Zimmerman, A. W., & Pardo, C. A. (2005). Neuroglial activation and neuroinflammation in the brain of patients with autism. Annals of Neurology, 57, 67–81.

    Article  PubMed  Google Scholar 

  • Volkmar, F. R., State, M., & Klin, A. (2009). Autism and autism spectrum disorders: diagnostic issues for the coming decade. Journal of Child Psychology and Psychiatry and Allied Disciplines, 50, 108–115.

    Article  Google Scholar 

  • Wegiel, J., Kuchna, I., Nowicki, K., Imaki, H., Wegiel, J., Marchi, E., et al. (2010). The neuropathology of autism: Defects of neurogenesis and neuronal migration, and dysplastic changes. Acta Neuropathologica, 119, 755–770.

    Article  PubMed  Google Scholar 

  • Williams, R. S., Hauser, S. L., Purpura, D. P., DeLong, G. R., & Swisher, C. W. (1980). Autism and mental retardation: Neuropathologic studies performed in four retarded persons with autistic behavior. Archives of Neurology, 37, 749–753.

    Article  PubMed  Google Scholar 

  • Wing, L. (1991). The relationship between Asperger’s syndrome and Kanner’s autism. In U. Frith (Ed.), Autism and Asperger syndrome (pp. 93–121). Cambridge UK: Cambridge University Press.

    Chapter  Google Scholar 

  • Witelson, S. F., Kigar, D. L., & Harvey, T. (1999). The exceptional brain of Albert Einstein. Lancet, 353, 2149–2153.

    Article  PubMed  Google Scholar 

  • World Health Organization. (1992). The ICD-10 classification of mental and behavioural disorders. Clinical descriptions and diagnostic guidelines (10th ed.). Geneva CH: World Health Organization.

    Google Scholar 

  • Zoghbi, H. Y. (2003). Postnatal neurodevelopmental disorders: meeting at the synapse? Science, 302, 826–830.

    Article  PubMed  Google Scholar 

Download references

Acknowledgments

We thank Dr. Judit Miklossy for performing the autopsy and allowing us access to the tissue, and two anonymous reviewers for their suggestions. Jorge Bermudez, Diana Sazan and Glenna Smith provided expert technical assistance. We thank Barry Mordin for photographic assistance. Supported in part by the National Alliance for Autism Research (NAAR).

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Correspondence to Karen M. Weidenheim.

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Weidenheim, K.M., Escobar, A. & Rapin, I. Brief Report: Life History and Neuropathology of a Gifted Man with Asperger Syndrome. J Autism Dev Disord 42, 460–467 (2012). https://doi.org/10.1007/s10803-011-1259-0

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