Rhett Syndrome

What is Rhett Syndrome?
Rhett syndrome is a development disorder characterized by normal development in early childhood that affects almost exclusively in females. This is followed by loss of purposeful hand use and distinctive hand movements, slowed head and brain growth, gait (large) abnormalities, seizures, and mental retardations.

This disorder founded by Dr. Andreas Rhett, an Austrian physician who first described it in a journal article in 1966. It was not until after a second article was published in 1983 that the disorder was generally recognized.

Children affected by Rhett syndrome usually experience autistic-like behavioral problems in the early stages. Other symptoms include toe walking, sleep problems wide based gait, teeth grinding and difficult chewing, slowed growth, seizures, cognitive disabilities, and breathing difficulties while awake such as hyperventilating, apnea (breath holding), and air swallowing.

What are the stages of this disorder?
There are four stages of this disorder. The first stage is called early onset. This stage generally begins between the ages of 6-18 months. This stage is usually overlooked because the symptoms are so vague doctors and parents do not recognize the symptoms. The child may begin to show less eye contact and have reduced interest in toys. Also there may be a delay in gross motor skills such as sitting or crawling. Hand-wringing and decreasing head growth may occur, but not enough to draw attention. This stage usually last a few months.

Stage II  is called the rapid destructive stage. This stage usually happens between the stages of 1 and 4 years old. Hand movements such as clapping, wringing, or tapping usually occur during this stage. Their hands are sometimes clasped behind the back or held at the sides, with random touching, grasping, and releasing. These movements are active while the child is awake, but disappear when asleep. Breathing irregularities such as apnea episodes and hyperventilation may occur, although breathing is more regular while sleeping. Some girls also display autistic-like symptoms, such as loss of social interaction and communication. General irritability and sleep irregularities may occur. Slowing of head growth is usually noticed during this stage.

Stage III is called the plateau or pseudo-stationary stage. This stage usually begins between the ages of 2 to 10 years old, and it can last for years. Motor problems and seizures are prominent during this stage. However, there may be improvement in behavioral problems, with less irritability, crying, and autistic like features. An individual in this stage may show more interest in her surroundings, and her alertness, attention span, and communication skills may improve. Many girls are in this stage for most of their lives.

The last stage, stage IV, is called the late motor deterioration stage. This stage can last for years or decades. Muscle weakness, stiffness, spasticity, increased muscle tone with abnormal posture of trunk, and scoliosis are other prominent features. Girls who were previously able to walk may stop walking. Usually, there is no decline in cognition, communication, or hand skills during this stage. Repetitive hand movements may decrease, and eye gaze usually improves.