Rett Syndrome is a neurological disorder that is caused by mutations on the X chromosome on the MECP2 gene. It’s primarily present in girls, although it’s possible for boys to show symptoms associated with Rett Syndrome.
The genetic disorder affects nearly every part of the child’s life, including their ability to speak, walk, eat, and even breathe properly.
What are the Symptoms of Rett?
A hallmark symptom of Rett is repetitive hand movements.
Symptoms start at around 6-18 months old, which is when they start to miss developmental milestones or experience progress regression.
Some other symptoms of Rett Syndrome are:
- Loss of speech
- Loss of use of hands
- Involuntary hand movements
- Loss of mobility or trouble walking
- Loss of muscle tone
- Breathing issues
- Sleep disturbances
Rett syndrome is often divided into four stages depending on the symptoms that are exhibited.
Stage 1. Starts between 6-18 months and can last anywhere from a few months to a year. Babies in this stage are delayed in sitting and crawling and may lose interest in their toys or eye contact.
Stage 2. Starts and last between the ages of 1 and 4. This stage is called rapid deterioration because children lose skills that they previously had over the course of a few weeks or months. Symptoms of Rett begin to present themselves.
Stage 3. This stage starts between the ages of 2 and 10 and can last many years. Seizures begin in this stage although hand movement, behavior, and irritability may improve.
Stage 4. This starts at age 10 and can last a few years to a few decades. In this stage, you can expect reduced mobility, muscle weakness, scoliosis, and a decrease in seizures.
While the symptoms can be subtle at first, you should see a doctor when you notice changes in your child’s development.
How is Rett Syndrome Treated?
Currently, there is no cure for Rett Syndrome, but you can manage and control the symptoms through medications and various physical therapies.
Some medications can be used to manage breathing difficulties, and anticonvulsants can be beneficial to control seizures. Additionally, you’ll want to monitor their health with regular doctor visits to track scoliosis and heart abnormalities. To prolong mobility, try physical therapy or hydrotherapy.
Regardless, individuals with Rett syndrome live long lives well into middle age or longer. Because this is a Rare disease, we don’t know much about the life expectancy of individuals with Rett Syndrome.
Can Rett be Inherited?
Rett may be a genetic disorder, but only one percent of all Rett cases have been passed from one generation to the next. Most Rett Syndrome cases are spontaneous and occur randomly.
The cause of Rett is not entirely known, but what we do know is that is almost exclusive to affecting girls and is caused by a mutation to the MECP gene in the X chromosome.
Genetic testing is available during pregnancy or for siblings to determine if they carry the disorder.
Is it possible for boys to develop Rett Syndrome? Yes, it is possible for boys to develop Rett, but it is very rare. However, because boys have different genetic chromosomes, the males that have developed Rett tend to die in infancy. But, still, there are rare cases of males with a less severe form of Rett living into adulthood with some developmental issues.
Is Rett Syndrome a form of autism? Yes, Rett Syndrome, a neurodevelopmental disorder, is classified as an autism spectrum disorder (ASD). The major difference between Autism and Rett is that Rett is more common in girls, while Autism is more common in boys.
How many people have Rett Syndrome? Studies show that 1 in 10,000 girls born develop Rett Syndrome, which means that 15,000 women and girls in the US and about 35,000 worldwide have Rett.
Rett Syndrome is a rare disorder that affects thousands of women and girls worldwide. While we haven’t found a cure for it, we’re fighting to give our children, siblings, and friends the opportunity to live long, healthy, and happy lives. By supporting us at Northwest Rett Syndrome Association, you’re helping us offer support in the form of connection, education, and advocacy for individuals and their families affected by Rett Syndrome.
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