Rett Syndrome is a rare, severe neurological disorder that affects girls and leads to profound cognitive and physical impairments. It is often misdiagnosed as autism, cerebral palsy, or a non-specific developmental delay. Here is a comprehensive look at Rett Syndrome in children:

Causes

• Genetic mutation: Rett Syndrome is primarily caused by mutations in the MECP2 gene, located on the X chromosome. The MECP2 protein is crucial for brain development and function.
• Inheritance: Most cases of Rett Syndrome are sporadic, meaning they occur randomly without a family history. However, in rare cases, it can be inherited from a mother who is a carrier of the mutation. 

Symptoms: 
Early Onset (6-18 Months) 

• Developmental delay: Slower development compared to peers.
• Subtle Symptoms: Decreased interest in toys, reduced eye contact, and delayed motor skills.
• Rapid destructive stage (1-4 Years)
• Loss of skills: Rapid or gradual loss of purposeful hand skills (e.g., grasping objects) and spoken language.
• Repetitive movements: Handwringing, squeezing, clapping, or tapping.
• Motor abnormalities: Unsteady gait, difficulty walking, or loss of mobility.
• Social withdrawal: Loss of social engagement and communication.

Plateau Stage (Preschool to Early School Years) 

• Stabilization: Some improvement in behavior and communication.
• Motor problems: Persistent motor difficulties, including apraxia (inability to perform purposeful movements).
• Seizures: Increased risk of seizures.
• Late motor deterioration stage (Teenage Years and Adulthood)
• Mobility loss: Progressive loss of motor abilities, leading to dependence on wheelchairs.
• Muscle weakness and rigidity: Increased muscle tone, scoliosis, and other orthopedic issues.
• Cognitive impairment: Severe intellectual disability remains.

Image credit: Content credentials Generated with AI ∙ July 2, 2024 at 6:34 AM