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.
Most babies with Rett syndrome seem to develop normally at first, but after about 6 months of age, they lose skills they previously had â such as the ability to crawl, walk, communicate or use their hands.
Over time, children with Rett syndrome have increasing problems with the use of muscles that control movement, coordination and communication. Rett syndrome can also cause seizures and intellectual disability.
Although there's no cure for Rett syndrome, potential treatments are being studied. Current treatment focuses on improving movement and communication and providing care and support for children and adults with Rett syndrome and their families.
Source: http://www.mayoclinic.com
Babies with Rett syndrome are generally born after a normal pregnancy and delivery. The age at which symptoms begin and their severity and associated disability varies widely among individuals. However, most babies with Rett syndrome seem to grow and behave normally for the first six months. After that, signs and symptoms start to appear.
The most pronounced changes generally occur at 12 to 18 months of age, suddenly, or over a period of weeks or months.
Rett syndrome signs and symptoms include:
Rett syndrome is commonly divided into four stages:
Signs and symptoms of Rett syndrome can be subtle in the early stages. See your child's doctor right away if you begin to notice physical problems or changes in behavior after apparently normal development, such as:
Source: http://www.mayoclinic.com
Rett syndrome is a rare genetic disorder. Classic Rett syndrome, as well as five known variations (atypical or variant) with milder or more severe symptoms, can occur based on the specific genetic mutation.
The genetic mutation that causes the disease occurs randomly, usually on the MECP2 gene. Only in a few cases is this genetic disorder inherited. The mutation appears to result in problems with the protein production critical for brain development. However, the exact cause is not fully understood and is still being studied.
Because males have a different chromosome combination from females, boys who have the genetic mutation that causes Rett syndrome are affected in devastating ways. Most of them die before birth or in early infancy.
A very small number of boys have a different mutation that results in a less destructive form of Rett syndrome. Similar to girls with Rett syndrome, these boys will likely live to adulthood, but they're still at risk of a number of intellectual and developmental problems.
Source: http://www.mayoclinic.com
Diagnosing Rett syndrome involves careful observation of your child's growth and development and answering questions about medical and family history. The diagnosis is usually considered when slowing of head growth is noticed.
For a diagnosis of Rett syndrome, other conditions with similar symptoms must be ruled out.
Because Rett syndrome is rare, your child may have certain tests to identify if other conditions are causing some of the same symptoms as Rett syndrome. Some of these conditions include:
What tests your child needs depends on specific signs and symptoms. Tests may include:
A diagnosis of classic Rett syndrome includes these core symptoms:
Additional typical symptoms can support the diagnosis.
Diagnostic criteria for atypical or variant Rett syndromes may vary slightly, but the symptoms are the same, with varying degrees of severity.
If your child's doctor suspects Rett syndrome after evaluation, he or she may recommend a genetic test (DNA analysis) to confirm the diagnosis. The test requires drawing a small amount of blood from a vein in the arm. The blood is then sent to a lab, where technicians examine your child's DNA for abnormalities and clues as to the cause and severity of the disorder.
Source: http://www.mayoclinic.com
Complications of Rett syndrome include:
Source: http://www.mayoclinic.com
There's no known way to prevent Rett syndrome. In most cases, the genetic mutation that causes the disorder occurs spontaneously. Even so, if you have a child or other family member with Rett syndrome, you may want to ask the doctor about genetic testing.
Source: http://www.mayoclinic.com
A few examples of complementary therapies that have been tried in children with Rett syndrome include:
Although there's not much evidence that these approaches are effective, some parents who have used them report good results.
If you think alternative or complementary therapies might help your child, talk to your doctor or therapist about the possible benefits and risks, and how the approach might fit into the medical treatment plan.
Source: http://www.mayoclinic.com
Children with Rett syndrome need help with most daily tasks, such as eating, walking and using the bathroom. This constant care can be exhausting and stressful for families. And in one study, for example, seizures were linked to higher levels of stress for parents whose daughters have Rett syndrome.
To better cope with the challenge:
Source: http://www.mayoclinic.com
Rett syndrome is rare. The genetic mutations known to cause the disease are random, and no risk factors have been identified. In a few cases, inherited factors â for instance, having close family members with Rett syndrome â may play a role.
Source: http://www.mayoclinic.com
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