What is Rett Syndrome

Rett syndrome is a relatively rare condition that almost exclusively affects females. It occurs in one out of every 10,000 to 15,000 people.

Rett syndrome is part of a category of disorders known as pervasive developmental disorders (PDD), which are more commonly known as autism spectrum disorders. All of these disorders are characterized by varying degrees of:

• Impairment in communication skills and social interactions
• Restricted, repetitive, and stereotyped patterns of behavior.

Symptoms of Rett Syndrome

People who develop Rett syndrome initially go through a period of normal development that lasts between 6 and 18 months. After that, autism-like symptoms begin to appear. The little girl’s mental and social development regresses — she no longer responds to her parents and pulls away from any social contact. If she has been talking, she stops; she cannot control her feet; she wrings her hands. Some of the problems associated with Rett syndrome can be treated. Physical, occupational, and speech therapy can help with problems of coordination, movement, and speech.

Causes of Rett Syndrome

Scientists have discovered that a mutation in the sequence of a single gene can cause Rett syndrome. This discovery may help doctors slow or stop the progression of the syndrome. It may also lead to methods of screening for Rett syndrome. This would enable doctors to treat — and thus improve the quality of life of — these children much sooner.

Autism is characterized by three distinctive behaviors. Autistic children:

• Have difficulties with social interaction
• Display problems with verbal and nonverbal communication
• Exhibit repetitive behaviors or narrow, obsessive interests.

Some people with the condition can function at a relatively high level, with speech and intelligence intact. Others have serious cognitive impairments and language delays, and some never speak.

In addition, individuals with autism may seem closed off and shut down, or locked into repetitive behaviors and rigid patterns of thinking. An infant may avoid eye contact, seem deaf, and abruptly stop developing language. The child may act as if unaware of the coming and going of others, or physically attack and injure others without provocation. Infants with autism often remain fixated on a single item or activity, rock or flap their hands, seem insensitive to burns and bruises, and may even mutilate themselves.

What Causes It?

Scientists aren’t certain what cause autism, but it’s likely that both genetics and environment play a role.

Treatment for Autism

There is no cure for the disorder. Therapies and behavioral interventions are designed to remedy specific symptoms and can bring about substantial improvement.

The ideal treatment plan coordinates therapies and interventions that target the core symptoms of the condition:

• Impaired social interaction
• Problems with verbal and nonverbal communication
• Obsessive or repetitive routines and interests.

Most professionals agree that the earlier the intervention, the better.