Rett syndrome | Symptoms and Causes

What are the symptoms of Rett syndrome?

Children with Rett syndrome have a wide variety of symptoms and a range of physical and mental impairments. Symptoms can include:

  • significantly impaired communication and cognitive (thinking) abilities
  • loss of the ability to speak
  • autistic-like symptoms, such as social isolation or withdrawal and reduced eye contact
  • compulsive hand movements, such as hand wringing, hand clasping, hand clapping or repeatedly moving the hands towards the mouth
  • loss of motor skills, such as walking or crawling
  • breathing problems, including breath holding and hyperventilation
  • seizures
  • sleep problems
  • gastrointestinal problems, such as reflux and constipation
  • heart rhythm abnormalities, such as prolonged QT syndrome
  • scoliosis and or kyphosis
  • microcephaly (small head size)
  • low muscle tone
  • irritability or agitation
  • teeth grinding (bruxism)
  • difficulty chewing and swallowing
  • drooling

What are the causes of Rett syndrome?

Rett syndrome results from disease-causing changes in the MECP2 gene located on the long arm of the X chromosome. This gene produces a protein called methyl-CpG binding protein 2, which is important for brain development and is believed to be involved in controlling the function of other genes. This protein is essential for the proper function of nerve cells and communication between neurons (brain cells). The specific job of the protein is not yet well understood. However, harmful changes in the gene lead to the symptoms of Rett syndrome.

Rett syndrome most often occurs as a result of a sporadic, or newly occurring, change in the MECP2 gene that was not inherited from the child’s parents.

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