Rett syndrome is a rare genetic neurological and developmental disorder that affects the way the brain develops, causing a progressive inability to use muscles for eye and body movements and speech. It occurs almost exclusively in girls.
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What does this mean?
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How did this happen?
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How will this affect her?
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What does the future look like?
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History of Rett Syndrome
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This means that up to 1 in 10,000 girls and beyond culture, race and socio economic status can be born with Rett Syndrome.
It means that this disorder can steal her ability to talk, walk, and independence.
In return it could give her respiratory distress, gastrointestinal complications, seizures, and osteoporosis.
It means that this disorder can steal her ability to talk, walk, and independence.
In return it could give her respiratory distress, gastrointestinal complications, seizures, and osteoporosis.
Rett Syndrome is a genetic ( and not necessarily hereditary) disorder caused by a mutation on the X chromosome on a gene called MECP2. An MECP2 mutation is not exactly exclusive to Rett Syndrome; however, in combination with the clinical criteria, a diagnosis can be made. This occurrence is typically random and undetectable in both parents. It is possible to carry the gene but unlikely.
Criteria for Rett syndrome diagnosis
Criteria for Rett syndrome diagnosis
- Partial or complete loss of acquired purposeful hand skills
- Partial or complete loss of acquired spoken language
- Gait abnormalities: Impaired (dyspraxic) or absence of ability
- Stereotypic hand movements such as hand wringing/squeezing, clapping/tapping, mouthing and washing/rubbing automisms
- Brain injury secondary to trauma (peri– or postnatally), neurometabolic disease, or severe infection that causes neurological problems
- Grossly abnormal psychomotor development in first 6 months of life
- Breathing disturbances when awake
- Bruxism when awake (teeth grinding)
- Impaired sleep pattern
- Abnormal muscle tone
- Peripheral vasomotor disturbances
- Scoliosis/kyphosis
- Growth retardation
- Small cold hands and feet
- Inappropriate laughing/screaming spells
- Diminished response to pain
- Intense eye communication—.eye pointing
The symptoms vary among each girl. Very much on a spectrum, Rett Syndrome will present differently among people, even with the same mutation, because there is no way to determine if the healthy or mutated X chromosome is active. Since every single cell in a girl's body is effected by the X chromosome, we see how Rett Syndrome can directly impact a multitude of functions.
Those impacted may have severe to moderate gross motor delays (walking, running, jumping), severe to moderate fine motor delays (pencil holding, self feeding with a spoon/fork), severe communication delay (with the exception of the 1% subgroup of Preserved RS), and virtually no self help skills as Apraxia limits the ability to carry out less than desirable tasks.
Apraxia (dyspraxia), the inability to program the body to perform motor movements, is the most fundamental and severely handicapping aspect of Rett Syndrome. It can interfere with every body movement, including eye gaze and speech, making it difficult for the girl with Rett to do what she wants to do. Due to this apraxia and her inability to speak, it is very difficult to make an accurate assessment of her intelligence. Most traditional testing methods require her to use her hands and/or speech, which may be impossible for the girl. Her mobility may be delayed and she may have difficulty crawling or walking.
While Apraxia is typically present, there are many other difficulties a child with Rett Syndrome may experience. Rett might mean that they may:
- walk, aided or unaided
-have seizures
-experience respirtory distress
-grind teeth (bruxism)
-have low muscle tone (hypotonia)
-experience gastrointestinal complications
-develop scoliosis and/or osteoporosis
The presence of any of these symptoms may also change over time. Some symptoms appear to develop if previously not there before and some may seem to diminish as the child grows.
From a science perspective, the future is bright. There are currently 8 trials active in the United States alone. This will not provide a cure overnight, but it will bring the science community one step closer to curing Rett Syndrome in many of our children's lifetime.
Dr. Andreas Rett, first recognized Rett Syndrome in his Vienna clinic in Austria. He observed two thin patients sitting on their mothers' laps next to each other, both girls, both rocking back and forth, constantly wringing their hands in what we now know is the characteristic stereotypic hand movement of Rett Syndrome. He found another six similar patients and by 1966 was able to report on studies of 22 girls from the L. Boltzman Institute for Research on Brain-Damaged Children. However, it was not until 1983 that the disorder was reported in the English language by Swedish Dr. Bengt Hagberg.
Dr. Rett's work began over fifty years ago, after serving as a medic in a German navy hospital. After the war, he studied medicine in Innsbruck and Bonn, Germany, and in 1948 wert to Vienna. Realizing the great need for a children's clinic, he approached the mayor and other local politicians, who were very difficult to persuade. In their community, disabled children were considered social outcasts. His patience was finally rewarded when the 100 bed hospital, Rosenhugel (Rose Hill) opened its doors to patients from all over Europe. It was the first facility of its kind, and he was the only physician in Austria caring for disabled children.
Dr. Andreas Rett passed away on April 25, 1997. Through his insight, dedication and compassion, Dr. Rett reached out to families all over the world. He gave us hope and wisdom, and taught us to believe in our girls, to search their eyes for sparks of understanding that were invisible to the rest of the world. He encouraged his medical colleagues to work together with parents as a team, to work with one another as a force for discovery. Although very ill for the last of his years, Dr. Rett never gave up on his dream to find answers to the puzzling disorder that took his family name. Dr. Rett was one of those people you may never have had the privilege to meet, yet has changed your life forever. First he held our hands, and soon, he held our hearts.
Always self-conscious about his command of English, Dr. Rett once said, "I never learned English, but I speak it." Of our daughters, he said "they feel all the love given to them. They have a great sensitivity for love. I am sure of this There are many mysteries, and one of them is the girls' eyes. I tell all the parents to look at their eyes. The eyes are talking to them. I am sure the girls understand everything, but they can do nothing with the information. These three words summarize best our task: To live with them, to love them, and to learn from them are the rudimentary principles of our work.
Dr. Rett's work began over fifty years ago, after serving as a medic in a German navy hospital. After the war, he studied medicine in Innsbruck and Bonn, Germany, and in 1948 wert to Vienna. Realizing the great need for a children's clinic, he approached the mayor and other local politicians, who were very difficult to persuade. In their community, disabled children were considered social outcasts. His patience was finally rewarded when the 100 bed hospital, Rosenhugel (Rose Hill) opened its doors to patients from all over Europe. It was the first facility of its kind, and he was the only physician in Austria caring for disabled children.
Dr. Andreas Rett passed away on April 25, 1997. Through his insight, dedication and compassion, Dr. Rett reached out to families all over the world. He gave us hope and wisdom, and taught us to believe in our girls, to search their eyes for sparks of understanding that were invisible to the rest of the world. He encouraged his medical colleagues to work together with parents as a team, to work with one another as a force for discovery. Although very ill for the last of his years, Dr. Rett never gave up on his dream to find answers to the puzzling disorder that took his family name. Dr. Rett was one of those people you may never have had the privilege to meet, yet has changed your life forever. First he held our hands, and soon, he held our hearts.
Always self-conscious about his command of English, Dr. Rett once said, "I never learned English, but I speak it." Of our daughters, he said "they feel all the love given to them. They have a great sensitivity for love. I am sure of this There are many mysteries, and one of them is the girls' eyes. I tell all the parents to look at their eyes. The eyes are talking to them. I am sure the girls understand everything, but they can do nothing with the information. These three words summarize best our task: To live with them, to love them, and to learn from them are the rudimentary principles of our work.
resources: definition: mayo clinic