The Diagnosis of Rett Syndrome (RTT)

Introduction

• Definition: Rett Syndrome (RTT) is a rare neurodevelopmental disorder, primarily affecting females, characterized by developmental regression, loss of acquired skills, and stereotypic hand movements.
• Historical Milestones:
  • 1966: First described by Dr. Andreas Rett.
  • 1999: Association with mutations in the MECP2 gene (Amir et al.).
• Current Understanding:
  • RTT is neurodevelopmental rather than degenerative.
  • Despite advances, diagnosis remains clinical due to imperfect genotype-phenotype correlations.