Advertisement

Neuroscience and Behavioral Physiology

, Volume 32, Issue 4, pp 323–327 | Cite as

Speech and Motor Disturbances in Rett Syndrome

  • V. M. Bashina
  • N. V. Simashkova
  • V. V. Grachev
  • N. L. Gorbachevskaya
Article

Abstract

Rett syndrome is a severe, genetically determined disease of early childhood which produces a defined clinical phenotype in girls. The main clinical manifestations include lesions affecting speech functions, involving both expressive and receptive speech, as well as motor functions, producing apraxia of the arms and profound abnormalities of gait in the form of ataxia-apraxia. Most investigators note that patients have variability in the severity of derangement to large motor acts and in the damage to fine hand movements and speech functions. The aims of the present work were to study disturbances of speech and motor functions over 2–5 years in 50 girls aged 12 months to 14 years with Rett syndrome and to analyze the correlations between these disturbances. The results of comparing clinical data and EEG traces supported the stepwise involvement of frontal and parietal-temporal cortical structures in the pathological process. The ability to organize speech and motor activity is affected first, with subsequent development of lesions to gnostic functions, which are in turn followed by derangement of subcortical structures and the cerebellum and later by damage to structures in the spinal cord. A clear correlation was found between the severity of lesions to motor and speech functions and neurophysiological data: the higher the level of preservation of elements of speech and motor functions, the smaller were the contributions of θ activity and the greater the contributions of α and β activities to the EEG. The possible pathogenetic mechanisms underlying the motor and speech disturbances in Rett syndrome are discussed.

Keywords

Early Childhood Motor Function Clinical Phenotype Hand Movement Clear Correlation 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

REFERENCES

  1. 1.
    V. M. Bashina, N. V. Simashkova, N. L. Gorbachevskaya, et al., “Clinical and neurophysiological aspects of Rett syndrome,” Zh. Nevrol. Psikhiatr., 93, No. 3, 52-56 (1993).Google Scholar
  2. 2.
    V. M. Bashina, N L. Gorbachevskaya, N. V. Simashkova, et al., “Clinical, neurophysiological, and differential diagnostic aspects of the study of severe forms of early childhood autism,” Zh. Nevrol. Psikhiatr., 94, No. 4, 68-71 (1994).Google Scholar
  3. 3.
    V. M. Bashina, Autism in Childhood [in Russian], Meditsina, Moscow (1999).Google Scholar
  4. 4.
    S. G. Vorsanova, V. Yu. Ulas, I. A. Demidova, et al., “Current concepts of Rett syndrome,” Zh. Nevrol. Psikhiatr., 99, No. 3 61-67 (1999).Google Scholar
  5. 5.
    N. L. Gorbachevskaya, L. P. Yakupova, L. F. Kozhushko, et al., “Topographic EEG mapping in pediatric psychiatry,” Fiziologiya Cheloveka, 18, No. 6, 40-48 (1992).Google Scholar
  6. 6.
    V. V. Grachev, “Rett syndrome: questions of diagnosis,” Zh. Nevrol. Psikhiatr., 101, No. 1, 22-26(2001)Google Scholar
  7. 7.
    T. P. Klyushnik et al., “Autoantibodies to nerve growth factor and astrocyte protein S-100 in Rett syndrome,” Zh. Nevrol. Psikhiatr., 101, No. 1, 45-48 (2001).Google Scholar
  8. 8.
    G. E. Rudenskaya, I. A. Skvortsov, and G. I. Kovalenko, “Rett syndrome,” Zh. Nevrol. Psikhiatr., 92, No. 2, 118-122 (1992).Google Scholar
  9. 9.
    V. Yu. Ulas, The Role of Cytogenetic and Cytological Anomalies in the Manifestations of Clinical Polymorphism of Rett Syndrome in Children [in Russian], Author's abstract of thesis for doctorate in medical sciences, Moscow (1994).Google Scholar
  10. 10.
    R. E. Amir, I. B. Van den Veyver, M. Wan, et al., “Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2,” Nature Genet., 23, 185-188 (1999).Google Scholar
  11. 11.
    D. Armstrong, “The neuropathology of the Rett syndrome,” Brain and Development, 14, Supplement, p. 89 (1992).Google Scholar
  12. 12.
    D. Armstrong, “The neuropathology of the Rett syndrome: overview,” Neuropediatrics, 26, 100-102 (1995).Google Scholar
  13. 13.
    P. V. Belichenko, B. Hagberg, and A. Dahlstrom, “Morphological studies of neocortical areas in Rett syndrome,” Acta Neuropathol., 93, 50-61 (1997).Google Scholar
  14. 14.
    S. Budden, “Management of Rett syndrome,” Neuropediatrics, 26, 75-77 (1995).Google Scholar
  15. 15.
    S. Budden, “Rett syndrome: habilitation and management reviewed,” Eur. Child Adolescent Psychiatr., 6, Supplement 1, 103-107 (1997).Google Scholar
  16. 16.
    C. Gillberg, “Communication in Rett syndrome complex,” Eur. Child Adolescent Psychiatr., 6, 21-22 (1997).Google Scholar
  17. 17.
    U. France, “Spectrum of MeCP2 mutations in Rett syndrome,” in: World Congress of Rett Syndrome 2000, Abstracts. S1. Karuizava, Nagana (Japan) (2000).Google Scholar
  18. 18.
    N. L. Gorbachevskaya, V. M. Bashina, V. V. Grachev, et al., “The EEG correlates of motor dysfunction in girls with Rett syndrome,” in: New Developments in Child Neurology, M. Velickovic Perat (ed.), Monduzzi Editore, Bologna (1998), pp. 203-206.Google Scholar
  19. 19.
    V. V. Gratchev, V. M. Bashina, N. L. Gorbachevskaya, et al. “Clinical, electrophysiological, and immunological correlations in classical Rett syndrome (sub-variants of classical Rett syndrome),” in: World Congress of Rett Syndrome 2000, Abstracts. S1. Karuizava, Nagana (Japan) (2000).Google Scholar
  20. 20.
    B. Hagberg et al. “A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls. Rett's syndrome: report of 35 cases,” Ann. Neurol., 14, 471-479 (1983).Google Scholar
  21. 21.
    B. Hagberg and I. Witt-Engerström, “Rett syndrome: a suggested staging system for describing impairment profile with increasing age towards adolescence,” Amer. J. Med. Genet., 24, 1-20 (1986).Google Scholar
  22. 22.
    B. Hagberg, “Rett syndrome: Clinical peculiarities, diagnostic approach, and possible cause,” Pediatr. Neurol., 5, 75-83 (1989).Google Scholar
  23. 23.
    B. A. Hagberg and O. H. Skjeldal, “Rett variants: A suggested model for inclusion criteria,” Pediatr. Neurol., 11, 5-11 (1994).Google Scholar
  24. 24.
    B. Hagberg, “Rett syndrome: classical peculiarities and biological mysteries,” Acta Pediatr., 84, 971-976 (1995).Google Scholar
  25. 25.
    F. Heinen, H. Petersen, U. Fietzek, et al., “Transcranial magnetic stimulation in patients with Rett syndrome: preliminary results,” Eur. Child Adolescent Psychiatr., 6, Supplement 1, 61-63 (1997).Google Scholar
  26. 26.
    K. Hjellinger, W. Grisold, D. Armstrong, and A. Rett, “Peripheral nerve involvement in the Rett syndrome,” Brain and Development, 12, 109-114 (1990).Google Scholar
  27. 27.
    A. M. Kerr and J. B. P. Stephenson, “A study of natural history of Rett syndrome in 23 girls,” Amer. J. Med. Genet., 24, Supplement 1, 77-83 (1986).Google Scholar
  28. 28.
    T. P. Klushnik, N. L. Gorbachevskaya, V. M. Bashina, et al, “High anti-nerve growth factor autoantibodies levels in blood sera in girls with Rett syndrome,” in: Abstracts of the 8th International Child Neurology Congress (Ljubljana, Slovenia, 13-17 September 1998), Brain and Development, 20, 379 (1998).Google Scholar
  29. 29.
    T. A. Leontovich, J. K. Mikhina, A. A. Fedorov, and P. V. Belichenko, “Morphological study of the entorhinal cortex, hippocampal formation, and basal ganglia in Rett syndrome,” Neurobiol. Dis., 6, 77-91 (1999).Google Scholar
  30. 30.
    Y. Nomura and M. Segawa, “Clinical feature of the early stage of the Rett syndrome,” Brain and Development (Tokyo), 12, 16-19 (1990).Google Scholar
  31. 31.
    A. Oldfors, B. Hagberg, H. Nordgren, et al. “Rett syndrome: spinal cord neuropathology,” Pediatr. Neurol., 4, 172-174 (1988).Google Scholar
  32. 32.
    A. Rett, “Cerebral atrophy associated with hyperammonaemia,” in: Handbook of Clinical Neurology, P. J. Vinken and G. W. Bruyn (eds.), North Holland, Amsterdam (1977), Vol. 29, pp. 305-329.Google Scholar
  33. 33.
    R. Riikonen and R. Vanhala, “Levels of cerebrospinal fluid nerve growth factor differ in infantile autism and Rett syndrome,” Devl. Med. Child Neurol., 41, 148-152 (1999).Google Scholar
  34. 34.
    S. G. Vorsanova, I. A. Demidova, V. Yu. Ulas, et al., NeuroReport, 8, 187-189 (1996).Google Scholar
  35. 35.
    C. Weickert and D. A. Weinberger, “A candidate molecule approach to defining developmental pathology in schizophrenia,” Schizophrenia Bull., 24, No. 2, 303-312 (1998).Google Scholar
  36. 36.
    I. Witt-Engerström, “Evolution of clinical signs,” in: Rett Syndrome-Clinical and Biological Aspects. Clinics in Developmental Medicine, B. Hagberg (ed.), MacKeith Press, London (1993), Vol. 127, pp. 27-37.Google Scholar
  37. 37.
    Y. Yamashita, T. Matsuishi, I. Kondo, et al., “Mutation type in the methyl-CpG-binding protein 2 (MecP2) in Rett patients with preserved speech,” in: World Congress of Rett Syndrome 2000, Nagana (Japan) (2000).Google Scholar
  38. 38.
    M. Zappella, “The preserved speech variant of Rett complex: a report of 8 cases,” Eur. Child. Adolescent Psychiatr., 6, 23-25 (1997).Google Scholar

Copyright information

© Plenum Publishing Corporation 2002

Authors and Affiliations

  • V. M. Bashina
    • 1
  • N. V. Simashkova
    • 1
  • V. V. Grachev
    • 1
  • N. L. Gorbachevskaya
    • 1
  1. 1.Scientific Center for Mental HealthRussian Academy of Medical SciencesMoscow

Personalised recommendations