AdministratorWhat does Rett syndrome do?
Rett syndrome is a rare genetic neurological and developmental disorder that affects the way the brain develops. This disorder causes a progressive loss of motor skills and language. Rett syndrome primarily affects females.
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.
How is Rett syndrome diagnosed?
If your child’s health care provider suspects Rett syndrome after evaluation, genetic testing (DNA analysis) may be needed to confirm the diagnosis. The test requires drawing a small amount of blood from a vein in your child’s arm.
How is Rett syndrome inherited?
In nearly all cases, the genetic change that causes Rett syndrome is spontaneous, meaning it happens randomly. Such random mutations are usually not inherited or passed from one generation to the next. However, in a very small percentage of families, Rett mutations are inherited and passed on by female carriers.
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.
Is Rett syndrome a form of autism?
Rett syndrome (RTT, MIM#312750) is a neurodevelopmental disorder that is classified as an autism spectrum disorder. Clinically, RTT is characterized by psychomotor regression with loss of volitional hand use and spoken language, the development of repetitive hand stereotypies, and gait impairment.
How long do girls with Rett live?
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. Loss of mobility.
Can you survive Rett syndrome?
Individuals with Rett syndrome have potential for prolonged survival with approximately 60% surviving to early middle age. Many women continue to have some level of ambulation and it is therefore critical to develop and advocate for care plans that help to maintain and build on these skills.
How long do you live with Rett syndrome?
While it is known that Rett syndrome shortens lifespan, not much is known about specific life expectancy rates for people with Rett syndrome. It generally depends on the age when symptoms first begin and their severity. On average, most individuals with the condition survive into their 40s or 50s.
Is Rett syndrome considered autism?
In the previous version of the Diagnostic and Statistical Manual of Mental Disorders, the DSM-IV (published in 1994), Rett syndrome was classified as one of the autism spectrum disorders (ASD), the others being autistic spectrum disorder, Asperger syndrome, Pervasive Developmental Disorder Not-Otherwise-Specified and …
Is there hope for Rett syndrome?
This is what happens to children with Rett syndrome, a rare genetic neurological and developmental disorder. There is no cure, but a new drug up for FDA approval is providing families with much-needed hope.
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