Rett Syndrome A Neurological Disorder In Children

Rett Syndrome A Neurological Disorder In Children

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:


  • 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. 

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 

Author: Sumana Rao | Posted on: July 3, 2024

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