What is the life expectancy of a child with Rett syndrome?

What is the life expectancy of a child with Rett syndrome?

What Is the Life Expectancy for Rett Syndrome? The average age of death for patients with Rett syndrome is about 24 years and in most cases, death is sudden and often secondary to pneumonia. Risk factors for sudden death include: Seizures.

What causes Rett’s syndrome?

What causes Rett syndrome? Almost all cases of Rett syndrome are caused by a mutation (a change in the DNA) in the MECP2 gene, which is found on the X chromosome (one of the sex chromosomes). The MECP2 gene contains instructions for producing a particular protein (MeCP2), which is needed for brain development.

Is Rett syndrome fatal?

When boys develop the Rett syndrome mutation, they rarely live past birth. Males have only one X chromosome (instead of the two girls have), so the effects of the disease are much more serious, and almost always fatal.

Are there any treatments for Rett syndrome?

There is no cure for Rett syndrome. Treatment for the disorder is symptomatic — focusing on the management of symptoms — and supportive, requiring a multidisciplinary approach. Medication may be needed for breathing irregularities and motor difficulties, and anticonvulsant drugs may be used to control seizures.

What happens when you have Rett syndrome?

Rett syndrome is a severe condition of the nervous system. It is almost only seen in females, and affects all body movement. Rett syndrome may cause speech problems (such as inability to learn to speak, or loss of speech), difficulty walking or loss of the ability to walk, and loss of purposeful hand use.

What do you need to know about Rett syndrome?

Rett syndrome is a neurodevelopmental disorder that affects girls almost exclusively. It is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures,…

When was the main Rett syndrome gene discovered?

The discovery of the main Rett syndrome gene (MECP2) in 1999 provides a basis for further genetic studies and enables the use of recently developed animal models such as transgenic mice which are deficient in MECP2. These mice have neurologic abnormalities that can be reversed by activating the MECP2 gene later in life.

Can a male with Rett syndrome have mosaicism?

There have been very rare reports of males with Rett syndrome on the basis of mosaicism. These males have a mixture of two cell types. They have some cells with one X chromosome with one MECP2 gene that is functioning normally.

Can a person with Rett syndrome have MECP2?

Not everyone who has an MECP2 mutation has Rett syndrome. Scientists have identified mutations in the CDKL5 andFOXG1 genes in individuals who have atypical or congenital Rett syndrome, but they are still learning how those mutations cause the disorder.