Rett Syndrome
What is it?
Rett syndrome is a severe progressive neurological disorder that affects only females. The symptoms of a progressive disorder get steadily worse as time passes. Rett syndrome causes mental retardation and developmental
regression.
Who gets it?
Approximately 7 to 10 cases of Rett syndrome per 100,000 females are recorded each
year.
What causes it?
Researchers have identified the gene associated with Rett syndrome as being located on the X-chromosome. In very simple terms, genes determine our genetic makeup, such as how we look. Chromosomes are thread-like structures that carry genes and help to pass on genetic information. The X chromosome is one of two chromosomes that determine an individual's sex. Males have an X and a Y chromosome, while females have two X chromosomes. When a gene mutates, it undergoes a sudden structural change that results in a new characteristic or trait not originally found in the parent gene. The gene associated with Rett syndrome encodes a protein that is involved in the way various other proteins transfer genetic information. When this gene is mutated, the fetus' maturing brain is damaged. Males that inherit one mutated Rett syndrome gene on the X chromosome are miscarried during pregnancy, because they do not have a second normal X chromosome. Because females will have one mutated Rett syndrome gene on the X chromosome and one normal X chromosome, they survive, but will have the symptoms of Rett syndrome. In most cases, Rett syndrome occurs because of a spontaneous mutation during the development of the fetus.
What are the symptoms?
A female infant with Rett Syndrome will appear normal during the first months after birth. The first noticeable symptom is usually hypotonia, which is a lack of muscle tone that results in floppy arms and legs. Around the age of five to six months, the child's head growth begins to slow down. After this, the child's development begins to regress. This means the child's abilities stop advancing, but return to a previous, less developed state. With Rett syndrome, this regression is especially noticeable in the use of language and the hands. Older children frequently wring their hands and place the hands in the mouth. These children are difficult to engage socially, which is frequently described as autistic-like behavior. Another typical symptom is a lack of a breathing pattern, with the child occasionally breathing very heavily as though she cannot get enough air. This is called hyperventilating. Some patients will have seizures. The progression of the disease slows down once the child reaches adolescence. At this point any seizures may stop occurring and the child may regain some hand use. All girls with Rett syndrome have profound mental retardation and may be unable to care for
themselves
.How is it diagnosed?
Rett syndrome is diagnosed according to the pattern of symptoms. To make a definite diagnosis, a blood sample can be analyzed for the gene mutation that causes Rett
syndrome.
What is the treatment?
The primary treatment for Rett syndrome includes supportive care to assist the patient with feeding and other aspects of daily life, and physical therapy to keep the muscles of the hands from contracting. Patients with seizures are treated with anticonvulsant
medications.
Self-care tips
There is no known way to prevent Rett syndrome. If your child has Rett syndrome, learn all you can about this disorder, and seek support from your healthcare provider, family, and community.
This information has been designed as a comprehensive and quick reference
guide written by our health care reviewers. The health information written
by our authors is intended to be a supplement to the care provided by your
physician. It is not intended nor implied to be a substitute for
professional medical advice.
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