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Rett syndrome is a rare genetic disorder that occurs mostly in girls. One of the first signs of Rett syndrome is that babies develop normally until about 6 months old when they stop developing normally and begin to lose some of their speech or movement skills. Rett syndrome affects the ability of the brain to coordinate muscles for eye movement, speech, and motor function. An inability to perform motor functions is one of the most common symptoms of Rett syndrome.
If your child has Rett syndrome, onset of symptoms will usually begin around 12-18 months. There are four stages of Rett syndrome, each with specific symptoms that correspond to an age range as the disorder progresses.
Rett syndrome rarely occurs in boys, but when it does it can be more severe and often fatal in infancy. Girls who develop the disorder can live into middle age despite complications.
The symptoms of Rett syndrome can go unnoticed in infants until later stages. You should watch for the following signs your child has a problem and consult with your child’s doctor or pediatrician if you have concerns.
As stages of Rett syndrome progress, your child may experience other symptoms such as seizures, scoliosis [SCO-lee-OH-sis], and continued intellectual disabilities.
One of the first signs of Rett syndrome is a loss of milestones your child has previously achieved, such as sitting or walking. Schedule an appointment to talk with your child’s doctor or pediatrician if you observe any of the following:
If your doctor suspects that your child has Rett syndrome, a physical exam will be conducted along with a discussion of your child’s personal and family medical history. Several tests may be requested to rule out other conditions like autism or cerebral palsy. These tests can include the following.
Genetic testing can confirm a diagnosis but not everyone who has the gene mutation ends up with symptoms of Rett syndrome. Usually, your child will have demonstrated significant loss of mobility or speech before a diagnosis of Rett syndrome can be conclusive.
There is no cure for Rett syndrome, but symptoms can be eased, and progress of the disorder slowed with proper medical care. If your child is diagnosed with Rett syndrome, you’ll likely become part of a treatment team that might include your child’s doctor, therapists, and others who can assist with managing the disorder. Treatment may include the following depending on the stage of your child’s diagnosis.
There are other alternative treatments such as musical therapy or animal-assisted therapy that have been shown to have positive results, but you should speak with your child’s doctor before beginning any additional treatments.