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Effects and Possible Treatment for Rett Syndrome

17 August, 2022

The symptoms of Rett syndrome are caused by a genetic defect that affects the brain’s ability to control vital functions. The disease is progressive, and there is no cure. The cause of this defect is unknown, but research indicates that it may be due to an abnormal gene on the X chromosome.

What Is Rett Syndrome?

Rett syndrome is a rare, non-inherited neurological disorder that primarily affects girls. It occurs in about 1 out of every 10,000 female births. The average age of onset is around six months old, with later onset occurring between 2 and 4 years old. Early diagnosis and intervention can help improve the quality of life for children with Rett syndrome.

Who Does Rett Syndrome Affect?

Rett Syndrome affects more than 400,000 people worldwide. While it is most prevalent in females, males are also affected by this condition at lower rates than females. Approximately 1 out of every 10,000 live female births have the disease, while only 1 out of every 20,000 live male births have this condition or are carriers for it (meaning they carry one copy of an abnormal gene).

What Causes Rett Syndrome?

The exact cause of Rett syndrome isn’t known. It’s thought that Rett syndrome may be caused by problems in the MECP2 gene on the X chromosome, but why this happens is not known. A mutation in the MECP2 gene may mean it doesn’t work properly or stop working altogether. This means that there aren’t enough proteins produced from this gene, which makes it hard for cells in the brain and nervous system to function normally.

What Are Effects of Rett Syndrome?

The effects of Rett syndrome vary from person to person. They can include:

  • Shortening of arms and legs (limb growth) problems
  • Balance and coordination struggles
  • Slowed head growth after birth (head circumference)
  • Apraxia – difficulty using correct words
  • Developmental delays at six months old and later in childhood (language development; cognitive skills such as problem-solving, memory, and planning)
  • Autism-like behaviors and lack of social skills
  • Problems breathing because of weak muscles around the rib cage (respiratory issues)
  • Wringing of hands

What Are Possible Treatments For Rett Syndrome?

Treatment for Rett syndrome depends on the person’s age and the severity of symptoms. The outlook for children with Rett syndrome is variable. Most live into adulthood. Many have difficulty walking and may need help with everyday activities such as feeding and dressing. Some have seizures or problems controlling their breathing. Others develop blindness, deafness, or heart problems later in life.

Many children with Rett syndrome need physical or occupational therapy to help them build strength and coordination, improve balance and gross motor skills, learn how to swallow properly, and learn self-help skills like feeding themselves and dressing themselves. Speech therapy can also be helpful for some people with Rett syndrome.

Some affected individuals may benefit from medications to control muscle spasms, seizures, or surgery on their urinary system if problems develop. In some cases where the underlying cause of Rett syndrome can be identified and corrected by gene therapy, this approach may lead to improvements in neurological function that could improve the quality of life for children with the disorder.

Some people with Rett syndrome may need feeding tubes if they have difficulty eating or swallowing, but this is rare in children with milder forms of the disease.