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Keywords:

  • Rett syndrome;
  • clinical manifestations;
  • stages of disease

Abstract

The presentation and clinical diagnosis of Rett syndrome at various ages and stages are reviewed. In addition to the classical form, variability in phenotype between different atypical Rett forms is given. Obligatory, supportive, and differential diagnostic criteria are summarized. Long-term follow-up findings in ageing Rett women are addressed. MRDD Research Reviews 2002;8:61–65. © 2002 Wiley-Liss, Inc.