Symptoms of the disease

Babies with Rett syndrome are usually born after a pregnancy and one normal childbirth. The first symptoms appear from 6 months, but the most pronounced changes appear between 12 and 18 months :

• A slowdown in skull growth. This is usually the first sign that a child has Rett syndrome. As the child grows, stunted growth in other parts of the body becomes more evident;
• La loss of hand coordination. The child stops using his hands to point at objects. He may have difficulty picking up objects. He develops stereotypical hand movements such as beating, twisting, rubbing, tapping, etc;
• benefits communication disorders. The child stops speaking even though he knew how to say certain words. The child loses his interest in people, toys or his environment. The child withdraws socially;
• benefits crises convulsives. They occur in 50 to 90% of girls with Rett syndrome and result in muscle spasms that can go as far as true epileptic seizures;
• Un lack of coordination and balance. The child loses his ability to crawl or walk;
• A irregular breathing awake. The child has respiratory problems, such as apnea, hyperventilation, blockage of breathing, forced expulsion of air or saliva, swallowing of air (aerophagia);
• Ofirritability. In young children, periods of crying and screaming that can last for hours;
• A Scoliosis, or abnormal curvature of the spine. This usually manifests around the age of 8 to 11 years;
• Arrhythmia, or irregular heartbeats which may shorten the life expectancy of children or adults with the condition;
• Constipation;
• Swallowing disorders (hypoaesthesia);
• Vasomotor disorders. The feet may become cold, purplish, or discolored;
• Weird and sudden facial expressions, prolonged laughter, screaming for no apparent reason, or sudden gestures.

Evolution of the disease

Rett’s syndrome is divided into four stages :

• Stand 1 : starts between 6 and 18 months. The child, whose development was normal, decreases his interest in toys or people. The growth of his skull is slowing down;
• Stand 2 : starts between 1 and 4 years. Rapid regression that takes place in a few weeks or months. The child no longer communicates with those around him, stops walking or using his hands, exhibits stereotypical hand movements, has convulsive fits;
• Stand 3 : starts between 2 and 10 years. Stationary phase which can last for several years. Even though movement problems persist, behavior improves. The child is calmer, has fewer fits. The child regains eye contact and relearns how to use his hands. Some have respiratory problems. Some children stay at this stage for the rest of their lives;
• Stand 4 : start 10 years after. Motor skills deteriorate, the child no longer walks. Appearance of scoliosis, muscle weakness. Children usually do not speak but communicate mainly by looking. Most reach adulthood.

During the first two stages, it is sometimes difficult to differentiate Rett syndrome from autism.

People at risk

Rett syndrome is a rare sickness caused by genetic mutation. In almost all cases, it only affectsone person per family. It affects children of all countries and all walks of life.

Risk factors

No factors have yet been detected.