Rett Syndrome

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.

• Stage I. Early onset. This stage generally occurs between 6 and 18 months of age when symptoms are mild and may go unnoticed. Your child may make less eye contact during this time or experience delays in sitting or crawling.
• Stage II. Rapid destruction. While this stage of Rett syndrome is referred to as rapid, it can still be a gradual loss of abilities occurring between the ages of 1-4 years. Your child may demonstrate slowed growth and a loss of communication during this stage that can span weeks or months. Your child may begin to make specific, repetitive hand motions such as wringing, clapping, or tapping.
• Stage III. Plateau. This stage occurs between 2-10 years of age and includes problems with speech and motor function. Your child may show improvements in certain aspects of their behavior, including emotional control and communication. Your child may begin to experience seizures during this stage.
• Stage IV. Late motor deterioration. The final stage of Rett syndrome may last for many years to decades. Your child may gradually lose motor function (movement)due to changes in the spine, muscles, and joints. Your child may develop scoliosis during this stage.

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.

• Slowed growth, specifically of the head
• Loss of speech or communication sounds
• Loss of coordinated hand movements like grasping
• Loss of balance or mobility
• Compulsive or unusual hand or eye movements
• Loss of muscle tone
• Breathing problems
• Increased agitation and frustration
• Learning delays
• Irregular heartbeat

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:

• Slowed head growth
• Decreased coordination or loss of mobility
• Repetitive hand movements
• Decreased eye contact or loss of speech
• Extreme mood swings and behavior changes

Rett syndrome is a rare genetic disorder caused by a mutation (harmful change) to a specific part of the genetic code. However, fewer than 1% of children who are diagnosed with Rett syndrome have another member of the family with the condition. The gene mutation that causes Rett syndrome prevents the body from making protein needed for brain development, resulting in developmental loss and disability.

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.

• Blood or urine tests
• CT or MRI scan
• Hearing tests
• EEG (electroencephalogram [ih-LEK-troh-en-SEF-uh-luh-gram])
• Genetic (DNA) testing

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.

• Medicine. Medicine may be prescribed to help with the symptoms of Rett syndrome including seizures and muscle stiffness.
• Therapy. Physical, occupational [ok-yuh-PEY-shuh-nl], and speech-language therapy can help your child with developmental loss and delays.
• Nutrition. A healthy diet can help to manage the symptoms of Rett syndrome and improve outcomes.
• Behavioral intervention and support. Social services may provide support both at home and school to assist your child.

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.

Because Rett syndrome is a rare genetic disorder caused by a gene mutation, it cannot be prevented. However, management of symptoms and medical care can slow the progression of developmental loss and lead to a longer life expectancy for your child. Doctors also recommend finding ways to ease stress, get support, and connect with other families who are also dealing with similar problems to provide a better quality of life for both you and your child.

Rett syndrome is a rare genetic disorder that occurs mostly in girls. One of the lead indicators 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.