Rett Syndrome
A rare neurological condition often involving loss of skills after early development.
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Overview
Rett Syndrome is rare neurological condition almost exclusively affecting girls caused by mutations in MECP2 gene. Affects 1 in 12000 female births. Development appears typical for 6-18 months then skills are lost regression devastating for families. Hallmark is loss of purposeful hand use replaced by repetitive hand-wringing or hand-washing movements. Most girls lose speech they had developed. Walking may be lost or never achieved. Breathing irregularities seizures scoliosis common. Despite profound physical challenges many girls and women have good comprehension engage meaningfully through eye-gaze. Rett Syndrome is not learning disability in traditional sense. Cognition there but locked in. Eye-gaze technology assistive communication reveal intelligence physical limitations conceal. Girls enjoy music social interaction family connection. No cure but therapies maintain mobility communication. Physiotherapy prevents contractures. Music therapy brings joy. Research into gene therapy offers hope. Life expectancy varies but many women live into 40s-50s with proper care.
Key Characteristics
- Normal development until 6-18 months then regression
- Loss of purposeful hand use
- Repetitive hand-wringing movements
- Loss of speech
- Walking difficulties or loss of walking
- Breathing irregularities
- Seizures common
- Cognition often intact despite physical limitations
What Helps
- Eye-gaze technology for communication
- Physiotherapy to maintain mobility
- Music therapy
- Seizure management
- Orthopaedic monitoring for scoliosis
- Presume competence understanding is present
- Assistive equipment for positioning
- Family support and respite
- Specialist Rett clinics
- Research participation opportunities
Note: Informational only. Consult professionals for individualised support.