What is Rett Syndrome?

Rett Syndrome is a developmental and not degenerative disorder usually picked up in early childhood.
It is caused by a mutation on the X-chromosome called MECP2. Girls (as this disease is primarily seen in girls) can have up to 200 mutations on this gene. The mutation causes absence of the protein in the gene needed to regulate the functions of the brain.

Typically, the child begins developing normally until 6-18 months old at which point their motor skills stop progressing, then regression begins. Signs and symptoms may include:

  • Apraxia: inability or reduced ability to perform motor movements including speech and eye gaze
    Breathing problems: breath holding, irregular breathing
    Floppy arms and legs
    Atypical hand movements such as hand wringing or mouthing of the hands. Usually, they no longer use their hands for fine motor skills such as grasping, reaching etc.
    Decreased head growth
    Increased drooling
    Shaky or stiff gait or inability to walk or crawl
    Seizures
    Decreased sleep or change in sleeping patterns
    Decreased social engagement such as decreased eye contact; Rett’s syndrome can be confused with autism. It is now on the autism spectrum
    Constipation and gastroesphageal reflux
    Decreased ability to communicate or no longer speaking
  • Girls can have a mild to severe form of the disorder depending on how many and where the mutations of MECP2 exist. There is a blood test to diagnose it. Sometimes Rett Syndrome can also be misdiagnosed as Angelman’s Syndrome, Cerebral Palsy, Disorder Autism, or Mental Retardation.

    Other helpful references for information on Rett Syndrome include International Rett Syndrome Foundation, Rett Syndrome Research Trust, and 1.800.818.RETT.

     


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