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.).
Overview of Clinical Features
Developmental Regression (Defining Feature):
Loss of acquired purposeful hand use and spoken language.
Onset typically after 6–18 months of normal development.
Dynamic Course:
Periods of regression followed by stabilization or partial recovery.
Neurological Features:
Hand stereotypies (e.g., wringing, mouthing).
Gait abnormalities (e.g., ataxia, dyspraxia).
Seizures: High prevalence but variable severity.
Behavioral Features:
Initial autism-like behaviors, followed by anxiety and mood instability.