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Updated: Jun 16 2021

Rett Syndrome

  • Summary
    • Rett Syndrome is a congenital condition caused by an X-linked dominant mutation in the MECP2 gene that affects girls between 6-18 months of age. Patients present with progressive impairment, developmental delays, and spinal abnormalities. 
    • Diagnosis is made primarily based on patient development history and clinical observations.
    • Treatment involves a multidisciplinary approach to address developmental delay, cognitive abnormalities, and orthopedic manifestations. 
  • Epidemiology
    • Incidence
      • 1 in 10,000 births
    • Demographics
      • male fetuses (only 1 X chromosome) do not survive to term
      • female fetuses (1 mutated gene, 1 normal gene) survive and manifest disease
  • Etiology
    • Pathophysiology
      • affects the grey matter of the brain
    • Genetics
      • inheritance pattern
        • X-linked dominant pattern
      • mutation
        • MECP2 gene mutation
          • this gene encodes the methyl-CpG-binding protein-2, which methylates DNA
        • 95% de novo mutation
        • mutation is on male copy of X chromosome
    • Associated conditions
      • medical conditions
        • development delay
        • seizures
          • 80% of cases
        • behavioral abnormalities
          • screaming and crying
          • loss of speech
        • gastrointestinal
          • constipation
      • orthopaedic
        • spasticity and joint contractures
        • ataxia
        • hypotonia
        • bruxism (grinding of teeth)
        • chorea (abnormal hand movement)
        • scoliosis with C-shaped curve
          • develops at the age of 10
          • occurs in more than 50% of patients
          • does not respond to bracing
          • instrumentation must include entire scoliotic and kyphotic curve
  • Presentation
    • Symptoms
      • normal development for first 6-18 months of life
      • when symptoms present, they range widely from mild to severe including
        • apraxia
          • loss of purposeful movements in the hands
          • often the first sign of the disease
        • mental slowing (i.e. signs of dementia)
        • abnormal breathing
        • difficulty ambulating
        • seizures
    • Physical exam
      • apraxia
      • abnormal gait
      • scoliosis
      • decreased head circumference
        • usually starts to become evident at 5-6 months
      • poor circulation indicated by cold, blue extremities
  • Imaging
    • Radiographs
      • recommended views
        • AP pelvis
          • findings
            • coxa vara
        • scoliosis films
          • findings
            • C-shaped curve
  • Studies
    • Diagnosis is based primarily on patient development history and clinical observations
    • Genetic testing
      • may identify genetic mutation responsible for disease, though not in all cases
  • Treatment
    • Nonoperative
      • symptom management
        • there is no specific treatment for Rett's syndrome
        • assistance with feeding and hygeine
        • treat seizures
      • physical therapy
        • indicated to avoid hand contracture
    • Operative
      • posterior spinal fusion
        • indications
          • thoracic curve that interferes with sitting and balance
          • C-shaped curve does not respond to bracing
        • technique
          • instrumentation must include entire scoliotic and kyphotic curve
  • Prognosis
    • Half of children unable to walk after the age of ten due to deterioration of motor function
      • development is normal until 6 to 18 months then progressive impairment and development delays occur
      • regression is rapid until the age of three
      • a more stable phase of progression occurs until age of 10
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