Clinical manifestations and stages of Rett syndrome

Ment Retard Dev Disabil Res Rev. 2002;8(2):61-5. doi: 10.1002/mrdd.10020.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Age Factors
  • Female
  • Follow-Up Studies
  • Humans
  • Neurologic Examination
  • Neuropsychological Tests
  • Phenotype
  • Rett Syndrome / classification
  • Rett Syndrome / diagnosis*
  • Rett Syndrome / genetics