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​Clinical features

An infant with Rett Syndrome (RTT) usually have a normal birth and neonatal course followed by apparently normal psychomotor development during the first 6 to 18 months of life. Then the characteristic features of RTT appear successively. This clinical features form the basis for the clinical diagnosis. Symptoms may include:​

Feeding, gastrointestinal function and physical growth

  • Chewing and swallowing difficulties

  • Reduced movements of the tongue

  • Gastroesophageal reflux

  • Gastrointestinal dysmotility

  • Constipation

  • Acquired microcephaly

  • Deceleration of growth

Language and motor skills

  • Learning difficulties

  • Severe language development problems

  • Loss of purposeful hand use and repetitive hand stereotypes

  • Autistic features

  • Bruxism

  • Peculiar gait

  • Tremors

  • Dystonia and foot and hand deformities

  • Seizures

  • Scoliosis

  • Screaming spells

Dysregulation of breathing and autonomic homeostasis

  • Hyperventilation

  • Apnea

  • Abnormal cardiorespiratory coupling

  • Abnormal sweating

  • Decreased heart rate variability

  • Cold extremities

  • Sleep abnormalities

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