Rett Syndrome

📖 Overview

Rett Syndrome is a rare neurological condition caused in most cases by mutations in the MECP2 gene on the X chromosome. It affects almost exclusively females — males with MECP2 mutations are usually not viable. It occurs in approximately 1 in 10,000-15,000 female births.

Rett Syndrome has a characteristic clinical course. Development appears typical in the first 6-18 months. This is followed by a period of regression — loss of purposeful hand use, loss of speech, gait abnormalities, and deceleration of head growth. After the regression phase, the condition typically stabilises, and many of the gains lost are partially recovered in some areas over time.

The characteristic hand stereotypies — wringing, washing, squeezing, and clapping hand movements — replace purposeful hand use after regression. These are not voluntary and cannot be stopped.

Communication in Rett Syndrome is severely affected by the loss of speech. Eye gaze technology has transformed communication for many people with Rett Syndrome — eye gaze is typically preserved and can be very precise. Many people with Rett Syndrome have more cognitive awareness and understanding than can be expressed through their motor limitations.

Seizures occur in approximately 60-80% of people with Rett Syndrome and are often difficult to control. Autonomic dysfunction — breathing irregularities, breath holding, air swallowing, and cardiac arrhythmias — is a significant feature. Scoliosis and osteoporosis are common physical complications.

Research into MECP2 gene therapy offers significant hope for Rett Syndrome — this is one of the conditions where gene therapy research is most advanced.