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 a brain disorder that too often results in a lifetime of impaired thinking, feeling, and social functioning — our most uniquely human attributes. It typically affects a person’s ability to communicate, form relationships with others, and respond appropriately to the external world. The disorder becomes apparent in children generally by the age of 3.

Autism (sometimes called “classical autism”) is the most common condition in a group of developmental disorders known as the autism spectrum disorders.

Other autism spectrum disorders include:

• Asperger syndrome
• Rett syndrome
• Childhood disintegrative disorder
• Pervasive developmental disorder not otherwise specified (usually referred to as PDD-NOS).

Experts estimate that three to six children out of every 1,000 will have autism. Males are four times more likely to have it than females. Girls with autism tend to have more severe symptoms and greater cognitive impairment.