Rett Syndrome

(Rett’s Disorder)

Definition

Rett syndrome is a problem with the development of the nervous system. It is most common in girls. Boys with Rett syndrome are usually stillborn or die shortly after birth.Many people with Rett syndrome live into adulthood. Most have severe disabilities, including an inability to talk or walk.

Causes

Rett syndrome is most often caused by nonhereditary mutations on a specific gene on one X chromosome.Females have two X chromosomes. Males have one X and one Y chromosome. Males usually die from Rett syndrome because they lack a second normal X chromosome. The second normal X chromosome in girls may provide some protection.In Rett syndrome, the mutated gene affects methyl cytosine binding protein 2 (MECP2). When it is mutated, there is a deficiency of this important protein. Not everyone with the MECP2 mutation will have Rett syndrome. Some females may be normal or have only mild symptoms.It is not clear what causes the Rett gene to mutate. Rett syndrome is usually nonhereditary. This means it does not run in families.

Risk Factors

There are no known risk factors for Rett syndrome.

Symptoms

Children with Rett syndrome will start developing normally. They will smile, move, and pick items up with their fingers. But by 18 months of age, the developmental process seems to stop or reverse itself. The age of onset and the severity of symptoms is different from person to person. There are 4 stages. Symptoms for each stage include:

Stage I: Early Onset Stage

  • Occurs at age 6 to 18 months
  • Can last for months and include:
    • Less eye contact with parents
    • Less interest in toys and play
    • Handwringing
    • Slow head growth
    • Calm, quiet baby

Stage II: Rapid Destructive Stage

  • Occurs at age 1 to 4 years
  • Can last weeks to months and include:
    • Small head
    • Developmental/intellectual disability
    • Inability to purposely use hands
    • Loss of previous ability to talk
    • Repeatedly moving hands to mouth
    • Other hand movements, such as clapping, tapping, or random touching
    • Hand movements stop during sleep
    • Holding breath, gaps in breathing, taking rapid breaths
    • Irregular breathing that stops during sleep
    • Teeth grinding
    • Laughing or screaming spells
    • Decreased social interactions
    • Irritability
    • Trouble sleeping
    • Tremors
    • Cold feet
    • Trouble crawling or walking

Stage III: Plateau Stage

  • Occurs at preschool through school years
  • Can last for years and include:
    • Difficulty controlling movement
    • Seizures
    • Less irritability and crying
    • Communication that may improve

Stage IV: Late Motor Deterioration Stage

  • Occurs at age when stage III ceases, can be anywhere from age 5 to 25
  • Can last up to decades and include:
    • Decreased ability to walk
    • Muscle weakness or wasting
    • Stiffness of muscles
    • Spastic movements
    • Curvature of the spine
    • Breathing trouble and seizures that often decrease with age
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Copyright © Nucleus Medical Media, Inc.

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