Rett syndrome

                         Rett syndrome is a developmental nervous system disorder, usually affecting only girls. Boys with this gene defect do not survive. Rett syndrome is caused by a mutated gene on the X chromosome.

 

     

                  A girl with Rett syndrome will begin to develop normally. By 18 months, the development appears to stop or reverse. The age of onset and severity of symptoms can vary. There are four stages to this process.

 

1. Early onset stage — 6-18 months

 

n      Less eye contact

n      Less interest in toys and play

n      There maybe delays in gross motor skills such as crawling and sitting

n      Hand wringing

n      Slow head growth

n      Calm, quiet baby

 

            This stage can last a few months but can persist for more than a year. This stage maybe overlooked because symptoms of the disorder are vague, parents and Doctors may not notice the subtle slowing of development.

 

1. Rapid destructive stage — 1-4 years

 

n      Small head

n      Mental retardation

n      Loss of muscle tone

n      Inability to purposely use hands

n      Loss of ability to talk

n      Repeatedly moving hands to mouth

n      Other hand movements, such as clapping, tapping or random touching

n      Breathing irregularities

n      Teeth grinding

n      Laughing or screaming spells

n      Decreased social interaction

n      Irritability

n      Trouble sleeping

n      Tremors

 

         This stage may last for weeks or months.

 

1. Plateau stage — preschool through to school years

 

n      Difficulty controlling movements

n      Seizures

n      Less irritability and crying

n      Shows more interest in her surroundings

n      Communication may improve

 

   This stage can last for years

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1. Late motor deterioration — anywhere from ages 5-25 years

 

n      Decreased ability to walk

n      Muscle weakness or wasting

n      Stiffness of muscles

n      Spastic movements

n      Curvature of the spine

n      Breathing trouble and seizures often decrease with age

 

This stage can also last for years.

 

              

                    The course and severity of Rett syndrome vary from individual to individual. Some girls may have symptoms from birth onwards, while others may have late regression or milder symptoms. Despite the difficulties with symptoms, most individuals with the disorder continue to live well into middle age and beyond-because the disorder is rare, little is known about long term prognosis.

 

                  Rett syndrome has no cure. You can treat some of the symptoms with medicines, surgery and physical and speech therapy. Children with Rett syndrome need help with most daily tasks, such as eating, dressing, walking and toileting. This care will continue throughout their lives. This constant care can be exhausting on families. Outside help may be needed. It is also good to connect up with other families facing the some problems; this can help you feel less alone. Online support and information is available from the international Rett syndrome association.

 

                  I hope this helps……………