|
|
Article Provided by The ARC of Georgia
Fact Sheet
Rett Syndrome (RS) is included as a Pervasive Developmental Disorder
because there is some potential confusion with autism - particularly
in the preschool years (Tsai,1992). Otherwise, the course and onset of
this condition is very distinctive.
It is seen almost exclusively in females and found in a variety of
racial and ethnic groups worldwide. It is now known that RS can occur
in males, but, with males, it is usually lethal, causing miscarriage,
stillbirth or early death.
Most researchers now agree that RS is a developmental disorder rather
than a progressive, degenerative disorder as once thought. In October
of 1999, the discovery of a genetic mutation (MECP2) on the X
chromosome revealed significant insight into the cause of Rett
syndrome. This mutation has now been found in up to 75% of typical and
atypical cases of RS. Continued research will focus on other still
unidentified genetic factors which contribute to RS.
The child with RS usually shows an early period of apparently normal
or near normal development 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 which occur when awake.
Apraxia (dyspraxia), the inability to program the body to perform
motor movements, is the most fundamental and severely handicapping
aspect of RS. It can interfere with every body movement, including eye
gaze and speech, making it difficult for the girl with RS to do what
she wants to do.
Due to apraxia and lack of verbal communication skills, an accurate
assessment of intelligence is difficult. Most traditional testing
methods require use of the hands and/or speech, which may be
impossible for the girl with RS.
RS is most often misdiagnosed as autism, cerebral palsy or
non-specific developmental delay. While many health professionals may
not be familiar with RS, it is a relatively frequent cause of
neurological dysfunction in females. The prevalence rate in various
countries is from 1:10,000 to 1:23,000 live female births.
The young girl with RS is well known for her attractive features, and
as she grows older, her especially penetrating eyes.
She typically sits independently and finger feeds at the expected
time.
Most girls do not crawl typically, but may "bottom scoot" or "combat
crawl" without using their hands.
Some children start to use single words and word combinations before
they lose this ability.
Predicting the severity of RS in any individual is difficult.
Despite these difficulties, girls and women with RS can continue to
learn and enjoy family and friends well into middle age and beyond.
She experiences a full range of emotions and shows her engaging
personality as she takes part in social, educational and recreational
activities at home and in the community.
Helpful Information:
Seizures can range from non-existent to severe, but do tend to lessen
in their intensity in later adolescence.
Breathing abnormalities may occur and also tend to decrease with age.
While scoliosis is a prominent feature of RS, it can range from mild
to severe.
Motor development in RS is almost always delayed, but the extent of
the delay can vary considerably. Some girls are never able to achieve
independent sitting or standing, while others sit, stand and walk at
nearly the expected time.
Specific motor problems which may need to be addressed are:
Treatment of motor problems in RS includes many
disciplines including physical therapy, occupational therapy, speech
therapy, music therapy, hydrotherapy and hippotherapy (therapy using
horses). While these therapies do not cure RS, they can maintain or
improve function, prevent deformities, provide positioning and
mobility and help keep her in better contact with her environment.
Education
Early exposure to age-appropriate books, toys and music is important,
even if she does not appear to show much interest or make appropriate
responses.
It can require several minutes for her to process information and
respond. Even when she does respond, it may not be in conventional
ways.
Always allow enough time for her to take in information and enough
room for her to respond in her own way.
Great fluctuations in her motor ability, attention span and behavior
may be seen, even within a short period of time.
Apraxia makes it difficult for her to perform motor movements by
following directions. The more she has to think about the process, the
more difficult it becomes. However, when she is emotionally motivated,
movements are automatic (i.e. reaching for food, scratching an itch,
etc.).
Providing environments and situations that are strongly motivating
will make it easier for her to show what she understands, resulting in
greater success and satisfaction.
Girls with Rett Syndrome can be seen in classrooms of all types,
ranging from self-contained special education units to full inclusion
in regular schools.
The goal in education should be to provide her with the most
stimulating program in the least restrictive environment, taking into
account each girl's own special needs.
Words you might hear:
Apraxia (dyspraxia): the inability to program the body to
perform motor movements.
Ataxia: the inability to coordinate voluntary bodily movement,
especially muscular movements.
Kyphosis: A curving of the spine that causes a bowing of the
back, usually in the upper back.
Spasticity: A condition characterized by increased muscle tone,
exaggerated reflexes and increased resistance to passive movement.
Resources:
International Rett Syndrome Association
Rett Syndrome
Research Foundation (RSRF)
|
 |
|
|
| |
The impact of a
disability can always be lessened to some degree by early intervention. |
|
 |
|
