Rett syndrome: Clinical experience in Alabama

Academic Article

Abstract

  • Through the networking capabilities of the International Rett Syndrome Association and the Alabama University Affiliated Program within the Civitan- Sparks Clinics of the University of Alabama at Birmingham, Rett Syndrome (RS) was surveyed within the state of Alabama. Since the program was initiated in 1992, 27 girls and women have been identified with RS. They range in age from 26 months to 22 years of age. Twenty-two (81%) fulfill all criteria for RS, the other 5 meeting criteria for atypical RS. The clinical features and natural history of RS within this group parallel the original descriptions of Andreas Rett. High field strength 1H magnetic resonance spectroscopy in an initial subset of this group indicates a reduction in N-acetylaspartate in cerebral white matter and an elevation of glutamate in cerebral gray matter, both findings consistent with neurochemical and neuropathologic findings in RS.
  • Authors

    Published In

  • Rivista Medica  Journal
  • Author List

  • Percy AK; Isaac JS; Lane JB
  • Start Page

  • 207
  • End Page

  • 210
  • Volume

  • 4
  • Issue

  • 4