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Updated: Dec 24 2021

Rett Syndrome

  • Snapshot
    • A 2-year-old girl is seen at the pediatrician’s office for unusual hand movements. Her parents also noted decreased interest in playing, loss of eye contact, and some decreased tone. She appears to be calmer than usual as well. Her parents deny any history of developmental disorders in the family. They are counseled about the possibility of a genetic disorder caused by a sporadic mutation and sent for genetic testing.
  • Introduction
    • Overview
      • Rett syndrome is a degenerative neurological disorder affecting females, caused by sporadic mutation in MECP2 gene on the X chromosome
  • Epidemiology
    • Demographics
      • females
        • mutation is fatal in males in utero or soon after birth
        • most common in Swedish, Norwegian, and northern Italian populations
    • Pathogenesis
      • characterized by 4 stages
        • stunted development
        • rapid regression of skills
        • pseudostationary
        • late motor deterioration
    • Genetics
      • inheritance pattern
        • sporadic
      • mutations
        • X chromosome
        • gene
          • MECP2, encoding methyl-CpG binding protein-2 (MeCP2) which is expressed in neural and glial cells
  • Presentation
    • Symptoms
      • onset of symptoms typically occur between ages 1-4
      • common symptoms
        • regression of speech and language, motor, and cognitive skills
        • ataxia
        • stunted growth
        • apraxia
          • hand-wringing behavior
          • often the first sign of disease
        • avoidance of eye contact
        • unusual calmness
        • eventually results in cessation of walking
      • gastrointestinal symptoms
        • constipation
        • gastroesophageal reflux
        • difficulty swallowing
    • Physical exam
      • inspection
        • hand-wringing
        • seizure disorder
        • rigidity
        • scoliosis
  • Imaging
    • Radiograph
      • indication
        • evaluate for scoliosis
      • findings
        • scoliosis
    • Barium swallow
      • indication
        • difficulty swallowing
      • findings
        • may have increased tendency for aspiration
  • Studies
    • Genetic testing
      • diagnostic
  • Differential
    • Autism spectrum disorder (ASD)
      • key distinguishing factor
        • patients with ASD typically do not display regression in developed skills
    • Genetic testing is diagnostic
  • Treatment
    • Treatment is aimed at treating symptoms associated with Rett syndrome
    • Lifestyle
      • specialty therapy
        • modalities
          • physical therapy
          • occupational therapy
          • behavioral therapy
    • Medical
      • anti-epileptic medications
        • indications
          • seizure disorder
    • Surgical
      • gastrostomy tube placement
        • indications
          • difficulty swallowing due to neurodegeneration
          • risk of aspiration
  • Complications
    • Aspiration pneumonia
    • Seizure disorder
  • Prognosis
    • Decreased life expectancy
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