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Rett Syndrome
Rett Syndrome is characterized
by an individual having a small head, hands and small feet, abnormal
social skills, cognitive impairment, significant speech delays or no
speech and repetitive behaviors. Girls with Rett Syndrome tend to have
gastrointestinal disorders, difficulties
walking and are prone to have seizures. Rett syndrome is caused
by mutations (structural alterations or defects) in the MECP2
(pronounced meck-pea-two) gene, which is found on the X
chromosome, which is why Rett Syndrome affects females so much more than
males. There are four stages of Rett Syndrome.
arly Onset In this
stage, the infant's eye contact decreases and they may have
reduced interest in toys. There may be delays in gross motor skills
such as sitting or crawling. Hand-wringing and decreasing head
growth may occur, but not enough to draw attention. This stage
usually lasts from a few months to over a year.
Rapid Destructive Stage This stage begins between ages 1 and
four and may come on quickly (weeks) or slowly (months). with
purposeful hand skills and spoken language being lost. The
characteristic hand movements begin to emerge during this stage and
often include wringing, washing, clapping, or tapping, as well as
repeatedly moving the hands to the mouth. They will sometimes clasp
their hands behind their back or hold them at the sides, with random
touching, grasping, and releasing but only while the child is awake.
Breathing irregularities such as episodes of apnea and
hyperventilation may occur, again, only when they are awake. Some
girls also display autistic-like symptoms such as loss of social
interaction and communication. General irritability and sleep
irregularities may be seen. Walking becomes more difficult as the
head slows in growth
Plateau or pseudo-stationary stage Between the
ages of 2 and 10, the child will regain some abilities and
become less irritable. This is the stage in which seizures can cause
some concerns. There are many who remain in this stage. It is best
to keep the child in therapies such as occupational,
physical and
hydrotherapy to prevent muscle deterioration.
Late Motor Deterioration Stage In this stage, mobility is
often loss due to muscle weakness and scoliosis. The ability to walk
may be lost.
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