1. RETT SYNDROME
What is Rett
Syndrome?
Rett syndrome is a rare
genetic neurodevelopment
disorder. It occurs
exclusively in girls.
Overtime Rett syndrome
increases problems with
using hands and hand
movement, slowed brain
and head growth, problems
with communicating,
walking and also seizures.
Dr. Andreas Rett, an
Australian physician made
the first article on Rett
syndrome in 1966. It was
not recognized until the
second article by Dr. Bengt
Hagberg in 1983.
Symptoms of Rett Syndrome
Before the symptoms, the child appears to grow and develop
normal for the first six months. After this period symptoms
occur.
Loses ability to use hands and speak
Problems crawling or walking
Smaller than normal head
Compulsive hand movements
Apraxia which is inability to perform motor functions,
this is the most severe feature of Rett Syndrome
Autistic behaviors
Walking on toes
Breathing difficulties
Seizures
Stages ofRett Syndrome
1) Stage one starts between 6-18 months of age. This
stage is sometimes unnoticeable. You start to lose
interest in toys or lack eye contact.
2) Stage two starts between 1-4 years of age. Lose the
ability to speak and use hands. Puts hands to the
mouth often. Difficult to move on their own. Some cry
and scream being very irritable.
3) Stage three starts between 2-10 years of age and last
for years. Apraxia, seizures and motor problems occur
during this stage. There is less crying and becoming
less irritable. Improvement of hand movement and eye
contact increases. Many girls remain in this stage for
most of their lives.
4) The last stage is reduces mobility, muscle weakness
and scoliosis. Repetitive hand movements may
decrease. Sudden death may occur but the life span is
on average of more than 50 years with assistance
throughout life.
2. Causes ofRett
Syndrome
Rett Syndrome is a
genetic disorder.
Less than 1 % is
inherited.
Who gets Rett
Syndrome?
Rett Syndrome is
estimated to affect
one in every 10,000
to 15,000 female
births in all racial
and ethnic groups
worldwide. Boys
are different than
girls. They have a
less destructive
form of Rett
Syndrome but are
still at risk of
behavior and health
problems.
Treatments for
Rett Syndrome
There is no cure for
Rett syndrome.
Medications can be
used to help certain
symptoms as
irregular breathing,
muscle stiffness
and seizures.
Physical and
speech therapy are always options to help the child
with those symptoms.
Despite the difficulties with Rett Syndrome, there is a
possibility to live well. There are women in their 40s
and 50s, so currently it is not possible to estimate the
life span. Also because this disorder is rare, very little
is known about long term prognosis.
References:
Rett Syndrome Fact Sheet. (n.d.). Retrieved February 2,
2015, from http://www.ninds.nih.gov/d
isorders/rett/detail_rett.htm
Rett syndrome. (n.d.). Retrieved February 3, 2015, from
http://www.mayoclinic.org/diseases-conditions/rett-
syndrome/basics/definition/con-20028086