Rett Syndrome: Frequently Asked Questions
What is Rett Syndrome?
Rett Syndrome is the most severe of the Autism Spectrum Disorders. It predominantly affects girls. This devastating neurological disorder robs the girls of speech, purposeful hand movement, the ability to walk and plagues their lives with countless struggles with uncontrollable seizures, digestive complications and sleep deprivation. Approximately one girl is born with Rett Syndrome every five hours. It is as common as Cystic Fibrosis, ALS and Huntington's Disease. ( Read more and watch a short video here . )
Source: www.dressup2cure.org
Rett Syndrome is the most severe of the Autism Spectrum Disorders. It predominantly affects girls. This devastating neurological disorder robs the girls of speech, purposeful hand movement, the ability to walk and plagues their lives with countless struggles with uncontrollable seizures, digestive complications and sleep deprivation. Approximately 8 ,000 girls are born with Rett Syndrome each year . It is as common as Cystic Fibrosis, ALS and Huntington's Disease. ( Read more and watch a short video here . )
Source: www.girlpower2cure.org
Rett syndrome is a neurodevelopmental disorder associated primarily with mutations in a gene on the X chromosome and most people affected are girls. In the majority of cases, these mutations are in the MECP2 gene. The syndrome is named after Dr. Andreas Rett who first described the disorder in the 1960s.
Source: www.childrenshospital.org
Rett syndrome is a unique developmental disorder which begins to show its effects in infancy or early childhood. It is seen almost exclusively in girls, although it can occur rarely in boys. It is found in all racial and ethnic groups throughout the world.
Source: retthelp.info
Rett Syndrome (RTT) is a unique neurodevelopmental disorder which begins to show its affects in infancy or early childhood. It is seen almost exclusively in females, although it can occur rarely in boys. It is found in all racial and ethnic groups throughout the world.
Source: www.rettsyndrome.org
What causes Rett syndrome?
Rett syndrome is primarily caused by a sporadic mutation in the MECP2 gene on the X chromosome. The MECP2 gene makes a protein, also called MeCP2, believed to play a pivotal role in silencing, turning off or regulating the activity of other genes. The MECP2 mutation (change in the gene) causes the turn-off/regulatory mechanism to fail, allowing other genes to function abnormally. So, RTT is a genetic disorder of developmental arrest or failure of brain maturation. ...
Source: www.rettsyndrome.org
Rett syndrome is caused by a mutation in the MECP2 gene on the X chromosome. The MECP2 gene is responsible for turning other genes off and on (some genes are active for only a specific period in development and then shut off forever. ) MECP2 mutations (change in the gene) cause the turn-on-off mechanism to fail, allowing other genes to stay active when they are no longer needed, or not come on when they are needed. Back to Top She seemed to develop so normally.
Source: retthelp.info
What are the stages of Rett syndrome?
Stage I Early Onset Stage Age: 6 months to 1.5 years Duration: Months Stage II Rapid Destructive Stage Age: 1 to 4 years Duration: Weeks to Months Stage III Plateau Stage Age: Preschool to adulthood Duration: Decades Stage IV Late Motor Deterioration Stage Age: When ambulation is lost (those who never ambulate move from Stage II to IV, 5-25+ years Duration: Up to decades
Source: www.rettsyndrome.org
The stages for Rett syndrome were developed by Prof. Bengt Hagberg and colleagues prior to the identification of mutations in MECP2 . At present, they are not widely used by physicians in this country. Stage I Early Onset Stage Age: 6 months to 1.5 years Duration: Months Stage II Rapid Destructive Stage Age: 1 to 4 years Duration: Weeks to Months Stage III Plateau Stage Age: Preschool to school years Duration: Years Stage IV Late Motor Deterioration Stage Age: When stage III ceases, 5-25+ years Duration: Up to decades ...
Source: retthelp.info
How is Rett Syndrome treated?
There is currently no cure for Rett Syndrome. However, in many cases the physical symptoms such as seizures, gastrointestinal problems, and musculoskeletal problems can be alleviated and managed. Also, behavioral therapies (such as augmentative communication) and various forms of rehabilitative therapy have all been extremely effective in helping the affected children. Our aim is to work with individual children and families to choose the correct combination of therapies and medication to manage symptoms. ...
Source: www.childrenshospital.org
How is Rett Syndrome diagnosed?
The diagnosis of Rett syndrome is made on the basis of established clinical criteria by a trained physician. Most people with Rett syndrome have a mutation or gene change in the MECP2 gene, although other gene changes (such as deletions or duplications) or mutations in other genes (such as CDKL5 or STK9) can cause Rett syndrome. Some people have atypical or variant Rett syndrome where some of the clinical features are different to typical Rett syndrome.
Source: www.childrenshospital.org
The diagnosis of Rett syndrome is made on the basis of the fulfillment of the diagnostic criteria. The presence of the MECP2 mutation (a blood test) confirms the diagnosis. Most mutations are sporadic, and occur only once in a family. There are more than 200 mutations in the MECP2 gene which contribute to Rett syndrome. Most of these are found in eight hotspots in the coding region of the gene (part of the gene which makes the MeCP2 protein). ...
Source: retthelp.info
Who does Rett syndrome affect?
Although almost all children living with Rett syndrome are female, all racial, ethnic, and socioeconomic groups are affected by this disease. Rett syndrome most often occurs as a result of a sporadic mutation, meaning that it generally does not run in families. The syndrome is considered one of the Autism Spectrum Disorders although has many other specific features. It affects 1/10,000 girls.
Source: www.childrenshospital.org
Is Rett syndrome seen predominantly in one race?
A statewide population study in Texas has revealed that the incidence of RTT in the African-American and Hispanic population in the United States is comparable to that in Caucasian Americans.
Source: www.rettsyndrome.org
A statewide population study in Texas has revealed that the incidence of RS in the African–American and Hispanic population in the United States is comparable to that in Caucasian Americans.
Source: retthelp.info
How does Rett syndrome affect a child?
Children with Rett syndrome often have normal development during the first few months of life, with later loss (regression) of language and motor skills. Neurological development tends to plateau or regress at this point, resulting in the loss of previously acquired abilities. Other children with Rett syndrome may have delays in acquiring skills from early in life.
Source: www.childrenshospital.org
How does Rett syndrome differ from autism?
Mutations in the MECP2 gene are found in Rett syndrome and have also been identified in some girls with autism, so they are branches of the same tree. While Rett occurs primarily in girls, autism occurs much more frequently in boys. In both conditions, there is loss of speech and emotional contact. However, features seen in Rett and not in autism include deceleration of the rate of head growth and loss of purposeful hand skills and mobility. ...
Source: retthelp.info
How often does Rett syndrome occur?
While many health professionals may not be familiar with RS, it is a relatively frequent cause of delayed development in girls. The prevalence rate in various countries is from 1:10,000 to 1:23,000 live female births, making it three times more common in females than phenylketonuria (PKU), a congenital error of metabolism for which every newborn in the USA is tested. The incidence rate is about 1:10,000 female births. ...
Source: retthelp.info
Do all girls move through the stages of Rett syndrome similarly?
The stages of Rett syndrome are guidelines provided to help understand the natural history of the disorder. The course of RTT is predetermined according to her mutation and X-inactivation status, and varies from one child to another, including the age when RTT begins and the speed and severity of symptoms. Therefore, two girls of the same age can appear quite different.
Source: www.rettsyndrome.org
The stages of Rett syndrome are simply provided to help understand the natural history of the disorder. The course of Rett syndrome is predetermined according to her mutation and X-inactivation status as well as other yet to be determined factors, and varies from one child to another, including the age when Rett begins and the speed and severity of symptoms. Therefore, two girls of the same age can appear quite different.
Source: retthelp.info
Since she loses skills, is Rett syndrome degenerative?
Rett syndrome is not a degenerative disorder, but it is a developmental disorder. Barring illness or complications, survival into adulthood is expected.
Source: retthelp.info
At what age does Rett syndrome begin?
The age when Rett syndrome begins and the severity of different symptoms may vary. The child with Rett is usually born healthy and shows an early period of apparently normal or near normal development until 6–18 months of life, when there is a slowing down or stagnation of skills. A period of regression then follows when she loses communication skills and purposeful use of her hands. Soon, stereotyped hand movements, gait disturbances, and slowing of the normal rate of head growth become apparent. ...
Source: retthelp.info
