About Rett Syndrome
"Rett Syndrome (RS) is a neurological disorder seen almost exclusively in females, and found in a variety of racial and ethnic groups worldwide. First described by Dr. Andreas Rett, RS received worldwide recognition following a paper by Dr. Bengt Hagberg and colleagues in 1983. "Overview from IRSA
Rett Syndrome (RS) is a neurological disorder seen almost exclusively in females, and found in a variety of racial and ethnic groups worldwide. First described by Dr. Andreas Rett, RS received worldwide recognition following a paper by Dr. Bengt Hagberg and colleagues in 1983.
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. Many girls begin independent walking within the normal age
range, while others show significant delay or inability to walk independently.
Some begin walking and lose this skill, while others continue to walk throughout
life. Still others do not walk until late childhood or adolescence.
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. Despite these difficulties, girls and women with RS can continue to learn and enjoy family and friends well into middle age and beyond. They experience a full range of emotions and show their engaging personalities as they take part in social, educational and recreational activities at home and in the community.
Source: "What is the Rett Syndrome" from The International Rett Syndrome Association.
Please visit the following IRSA site for a comprehensive view of Rett Syndrome.
The following sites contain excellent Rett Syndrome overviews:
Be sure to visit the Belgian Rett Syndrome Association's comprehensive bibliography on Rett Syndrome literature.This is the first instance of a human disease caused by defects in a
protein whose function it is to silence other genes. Diagnosing the disorder
before the child is four or five years old is often difficult, Francke
said. One of the first payoffs from this discovery will be a genetic test
to improve the accuracy of early diagnosis. If combined with an effective
therapy, the test might allow doctors to ameliorate or forestall the drastic
consequences of the disease."
Source: Stanford Univeristy - Press Release.
Please visit the following IRSA
site for more information on Rett Gene.
Ting Ting currently has a mixture of home and school programs supported
by the school district, as well as other thearpies and services funded
by our insurance company and the parents.
Since there are so many people helping Ting Ting from different aspects
to meet her unique needs, communcations become a big challenge to us. Thanks
to the wide-spread technology of Internet and web sites, we see the golden
opportunity of using this new technology to facititate the communications
among those people. We hope this web site to be use as a center location
of providing information as well as a public forum of discussing issues
and exchanging ideas about the education and related servicess.
Please visit the following link for more details on those web pages:
The following link page will provide a list of
books and videos about Rett Syndrome and other related disorders
on our book shelf. We have found most of them very userful to us.
We also have *many* video tapes of our daughter beginning with her birth
in 1994. Those video tapes had added an incredible value to our search
of Ting Ting's disability, Rett Syndrome. Her ability to function
almost like a normal baby in the first stage of Rett Syndrome is
not ony lodged deep inside our memory but also may be reviewed from those
videos tapes. Then, on the second stage of Rett, there are those
terrible years when our whole family were turned up-side-down. And finally,
the thrid stage, our peaceful and happy angel emgers in front of the camera
and brings to us lots of smiles and joys.
Your comments and suggestions are highly appreciated. Also please take
a moment to sign
the following guest book on your visit. And thanks again!
Gene For Rett Syndrome
"As Francke and five other scientists report in the October issue of Nature
Genetics, the gene instructs cells throughout the body to make a protein
known as methyl-CpG binding protein-2 or MeCP2. In the nuclei of cells,
the head of the MeCP2 protein attaches directly to the methylated DNA in
control regions of target genes, while the tail fastens to a large complex
of proteins that compact the target gene and keep it silent.
Ting Ting's School and Home Programs
- Forum
for Ting Ting's School and Home Programs.
Books and Videos on Our Shelf
Thank You
There are so many people who have supported and helped our family. We would
like to take this opportunity to thank all of them. Their love and caring
brought us a lot of hope for our beautiful five-year-old daughter.
