Rett Syndrome

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Rett Syndrome
Simon Sadinsky
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Overview
What is Rett Syndrome? What Causes Rett
Syndrome? General Symptoms Stages of Rett
Syndrome Rett Syndrome in Boys Making the
Diagnosis Life Expectancy Finding a Cure
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What Exactly is Rett Syndrome?
Rett Syndrome, also known as RS, is a
neurological disorder seen almost exclusively in
females, and found in a variety of racial and
ethnic groups worldwide. Most researchers now
agree that RS is a developmental disorder rather
than a progressive, degenerative disorder as
once thought. Believed to affect 1 in 10,000
females
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Causes of Rett Syndrome
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General Symptoms
Children with RS show early periods of
apparently normal or near normal development up
until 6-18 months of life. A period of temporary
stagnation or regression follows during which
the child loses communication skills and
purposeful use of the hands. Soon, stereotyped
hand movements, gait disturbances, and slowing
of the rate of head growth become apparent.
Other problems may include seizures and
disorganized breathing patterns.
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Stage 1
Stage 1 occurs within 6 months to 1 1/2 years of
birth. This stage is usually overlooked, as the
symptoms of RS are just emerging and are somewhat
vague. The infant may show less eye contact and
have reduced interest in toys. She is often
described as a "good" baby, calm and placid.
There may be delays in gross motor milestones.
Non-specific hand wringing and decelerating head
growth may be present.
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Stage 2
Occurs from 1-4 years after birth. This stage can
have a rapid onset or it can be more gradual as
purposeful hand skills and spoken language are
lost. Stereotyped hand movements begin to
emerge, and often include hand-to-mouth
movements as the first expression. Other
movements include hand wringing, clapping or
clasping. Some girls appear autistic-like with
loss of social interaction and communication.  Sl
owing of head growth is usually noticed from 3
months - 4 years
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Stage 3
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Rett Syndrome in Boys
It was originally thought that only girls could
get Rett Syndrome, but studies now show that
boys can also receive it. When boys do get it,
however, it is usually lethal, causing Miscarriage
, stillbirth or early death.
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Diagnosing Rett
The first step to finding out if a child has Rett
Syndrome is to take the MECP2 blood test. Many
children with Rett also have MECP2
mutations. After having done that, doctors will
observe the child to discover whether she has any
classic symptoms. It is often misdiagnosed as
Autism.
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Life Expectancy
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Finding a Cure
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Summary
The main facts that should be taken out of this,
is that Rett Syndrome is a neurological disorder
that occurs mainly in girls. It results in loss
of motor skills, seizures etc. There is no real
cure for it yet, but there is hope for one
shortly. While it kills at an earlier age than
normal, people with Rett live longer than people
with most other neurological disorders.
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Bibliography
WWW.AAFP.ORG/AFP/20021101/1667.HTML WWW.RETTSYNDRO
ME.ORG WWW.RSRF.ORG WWW.WEMOVE.ORG/RETT WWW.ARS.US
DA.GOV/IS/AR/ARCHIVE/FEB99/RETT0299.HTM FOUNDATION
.ASNR.ORG/NEUROGRAPHICS/2/1/1/14.ASP