Neuroscience and Behavioral Physiology

, Volume 37, Issue 8, pp 755–759 | Cite as

Clinical-psychological characteristics of children with dysgenesis of the cerebellar vermis

  • M. Yu. Bobylova
  • A. S. Petrukhin
  • G. N. Dunaevskaya
  • S. V. Piliya
  • E. S. Il’ina


This report addresses behavioral abnormalities in children with cerebellar anomalies demonstrated on MRI scans. Published data are presented showing an interaction between cerebellar pathology and early childhood autism. The cerebellum is involved not only in movement coordination, but also in social adaptation and verbal communication. The genes expressed in the cerebellum during childhood are identical to those expressed in the hippocampus. We have observed 20 children with MRI-identified agenesis of the cerebellar vermis and behavioral abnormalities; children were aged 3–15 (mean 7.05) years and there were 12 males and eight females. A variety of autistic characteristics were identified in these children.

Key words

agenesis or hypoplasia of the cerebellar vermis autism delayed psychoverbal development mutism dysarthria hyperactivity MRI 


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    L. L. Baxter, T. H. Moran, J. T. Richtsmeier, et al., “Discovery and genetic localization of Down syndrome cerebellar phenotypes using the Ts65Dn mouse,” Hum. Mol. Genet., 9, No. 2, 185–202 (2000).CrossRefGoogle Scholar
  2. 2.
    Y. C. Chang, C. C. Huang, and S. C. Huang, “Volumetric neuroimaging in children with neurodevelopmental disorders-mapping the brain and behavior, Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi, 39, No. 5, 285–292 (1998).PubMedGoogle Scholar
  3. 3.
    W. S. Condon, “Sound-film microanalysis: A means for correlating brain and behavior,” in: Dyslexia: A Neuroscientific Approach to Clinical Evaluation, F. Duffy and N. Geschwind (eds.), Little, Brown and Co., Boston (1985).Google Scholar
  4. 4.
    M. Eckert, “Neuroanatomical markers for dyslexia: a review of dyslexia structural imaging studies,” Neuroscientist, 10, No. 4, 362–371 (2004).PubMedCrossRefGoogle Scholar
  5. 5.
    F. Fabbro, R. Moretti, and A. Bava, “Language impairments in patients with cerebellar lesions,” J. Neurolinguistics, 13, No. 2–3, 173–188 (2000).CrossRefGoogle Scholar
  6. 6.
    J. M. Fletcher, M. Barnes, and M. Dennis, “Language development in children with spina bifida,” Semin. Pediat. Neurol., 9, No. 3, 201–208 (2002).CrossRefGoogle Scholar
  7. 7.
    I. Frampton, K. Rubia, X. Chitnis, et al., “Heterozygous PAX6_mutation, adult brain structure and fronto-striato-thalamic function in a human family,” Eur. J. Neurosci., 19, No. 6, 1505–1512 (2004).PubMedCrossRefGoogle Scholar
  8. 8.
    I. Golani, “Homeostatic motor processes in mammalian interactions: A choreography of display,” in: Perspectives in Ethology, P. P. G. Bateson and P. H. Klopfer (eds.), Plenum Press, New York (1976).Google Scholar
  9. 9.
    S. Holroyd, A. L. Reiss, and R. N. Bryan, “Autistic features in Joubert syndrome: a genetic disorder with agenesis of the cerebellar vermis,” Biol. Psychiatr., 29, No. 3, 287–294 (1991).CrossRefGoogle Scholar
  10. 10.
    P. S. Kang and V. J. Caride, “Functional brain imaging in a patient with giant cisterna magna,” Clin. Nucl. Med., 27, No. 11, 827–828 (2002).PubMedCrossRefGoogle Scholar
  11. 11.
    Y. M. Lenhoff, P. P. Wang, F. Greenberg, and U. Bellugi, “Williams syndrome and the brain,” Sci. Am., 277, No. 6, 68–73 (1997).PubMedCrossRefGoogle Scholar
  12. 12.
    A. Lincoln, Z. Lai, and W. Jones, “Shifting attention and joint attention dissociation in Williams syndrome: implications for the cerebellum and social deficits in autism,” Neurocase, 8, No. 3, 226–232 (2002).PubMedCrossRefGoogle Scholar
  13. 13.
    C. Lopes, Z. Chettouh, J. M. Delabar, and M. Rachidi, “The differentially expressed C21orf5_gene in the medial temporal-lobe system could play a role in mental retardation in Down syndrome and transgenic mice,” Biochem. Biophys. Res. Commun., 305, No. 4, 915–924 (2003).PubMedCrossRefGoogle Scholar
  14. 14.
    L. A. Martin, T. Escher, D. Goldowitz, and G. Mittleman, “A relationship between cerebellar Purkinje cells and spatial working memory demonstrated in a lurcher/chimera mouse model system,” Gen. Brain Behav., 3, No. 3, 158–166 (2004).CrossRefGoogle Scholar
  15. 15.
    M. Martinez de Lagran, X. Altafaj, X. Gallego, et al., “Motor phenotypic alterations in TgDyrk1a transgenic mice implicate DYRK1A in Down syndrome motor dysfunction,” Neurobiol. Dis., 15, No. 1, 132–142 (2004).PubMedCrossRefGoogle Scholar
  16. 16.
    K. Pierce and E. Courchesne, “Evidence for a cerebellar role in reduced exploration and stereotyped behavior in autism,” Biol. Psychiat., 49, No. 8, 655–664 (2001).PubMedCrossRefGoogle Scholar
  17. 17.
    J. M. Prats-Vinas, “Does the cerebellum play a part in cognitive processes?” Rev. Neurol., 31, No. 4, 357–359 (2000).PubMedGoogle Scholar
  18. 18.
    A. L. Reiss, S. Patel, A. J. Kumar, and L. Freund, “Preliminary communication: neuroanatomical variations of the posterior fossa in men with the fragile X (Martin-Bell) syndrome,” Am. J. Med. Genet., 31, No. 2, 407–414 (1988).PubMedCrossRefGoogle Scholar
  19. 19.
    M. C. Silveri and S. Misciagna, “Language, memory, and the cerebellum,” J. Neurolinguistics, 13, No. 2–3, 129–143 (2000).CrossRefGoogle Scholar
  20. 20.
    J. E. Schmitt, E. Eliez, I. S. Warsofsky, et al., “Enlarged cerebellar vermis in Williams syndrome,” J. Psychiat. Res., 35, No. 4, 225–229 (2001).PubMedCrossRefGoogle Scholar
  21. 21.
    Y. Tendler, G. Weisinger, R. Coleman, et al., “Tissue-specific p53 expression in the nervous system,” Brain Res. Mol. Brain Res., 72, No. 1, 40–46 (1999).PubMedCrossRefGoogle Scholar
  22. 22.
    “The neuropsychiatry of limbic and subcortical disorders,” in: S. Salloway, P. Malloy, and J. L. Cummings (eds.), American Psychiatric Press, Washington, London (1997), pp. 3–18 and 133–143.Google Scholar
  23. 23.
    D. Vandeinse and J. E. Hornyak, “Linguistic and cognitive deficits associated with cerebellar mutism,” Pediat. Rehabil., 1, No. 1, 41–44 (1997).Google Scholar
  24. 24.
    C. A. Williams and J. L. Frias, “The Angelman (happy puppet) syndrome,” Am. J. Med. Genet., 11, No. 4, 453–460 (1982).PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, Inc. 2007

Authors and Affiliations

  • M. Yu. Bobylova
    • 1
    • 2
  • A. S. Petrukhin
    • 1
    • 2
  • G. N. Dunaevskaya
    • 1
    • 2
  • S. V. Piliya
    • 1
    • 2
  • E. S. Il’ina
    • 1
    • 2
  1. 1.Russian State Medical UniversityRussia
  2. 2.Russian Pediatric Clinical HospitalMinistry of Health of the Russian FederationMoscow

Personalised recommendations