What is Rett Syndrome?

Rett syndrome is a genetic nervous system disorder that causes mild-to-severe developmental delays in children. This developmental disorder is not degenerative. It stalls or stops developmental progress for a time. It is almost always found in girls but can rarely affect boys.

With many genetic disorders a child is born with obvious symptoms or problems.The first signs of Rett syndrome can be seen at six to eighteen months of age. A child with Rett syndrome can appear completely normal and can meet developmental goals with no issues for some time. The signs of Rett syndrome usually begin with an apparent slow down in developmental progress. This can be followed by breathing issues, problems with gait, loss of hand control and communication skills, excessive drooling, slow head growth, seizures, withdrawal, and mood disturbances. The severity of the disorder is dependent on the type of genetic mutation present in each child. Before there was a blood test to accompany diagnostic criteria, Rett syndrome was often misdiagnosed as autism because of the speech impairment and the lack of emotional contact often seen in autism.

The treatment protocol is usually geared around treating each patient’s symptoms, such as seizures or breathing problems, and cognitive therapy. Also, physical therapy can be used to preserve hand movement, sometimes lost as a result of contracting, and to achieve and keep as much mobility as possible. There is usually an improvement in symptoms in the teenage years, with a life expectancy of around 40 in females.