Rett’s Syndrome
In the big picture of diseases that affect human beings, there is a category that is rare diseases. They are those that have a low incidence, that is, they affect five or less out of every 10,000 people. One of these diseases is Rett syndrome.
the hand washing syndrome
Rett syndrome is a genetic disorder that affects the nervous system and is known by some as the “hand washing” disease. This denomination is so because many of those who suffer from it perform repetitive movements such as washing their hands.
As with most rare diseases, diagnosis can be delayed. Treatment is therefore delayed because it can be confused with autism, developmental delay or cerebral palsy.
Rett syndrome usually affects girls because it is caused by a gene that is found on the X chromosome. When it appears in men, it is most common for them to die a few days after birth. The Austrian physician Andreas Rett described this disease after studying 22 girls who had the hand washing movement.
Rett syndrome symptoms
During their first few months of life, babies do not appear to have any abnormalities. After six months, they may show delay in development and loss of skills already learned.
Girls with Rett syndrome have low muscle tone and little eye contact. They have a delay in learning to speak. They also have the symptom Dr. Rett noted: hand washing movement. They may experience convulsions and change in breathing rhythm after waking up.
There is also a delay in head growth and decreased motor functions. There is irritability, uncontrolled crying and excessive salivation. Have abnormal sleep patterns. They may also have altered heart rhythm.
Due to the altered autonomic nervous system, girls with Rett syndrome have problems chewing, swallowing and digesting food. They may grind their teeth and move their tongues involuntarily. They also suffer from stomach pain, constipation, gallstones and gastroesophageal reflux.
Three out of four girls with the syndrome may have spinal deviations. When they walk, they do it rigidly, most of the time with their fingertips. Due to problems in the circulatory system, the hands and legs can become cold and bluish.
How is Rett Syndrome Treated
As it is a disease that has no cure, treatment is aimed at compensating the symptoms. It is a progressive disease, that is, it gets worse over the years. The treatment aims to improve the quality of life of the person suffering from the syndrome.
Treatment must be multidisciplinary, due to the fact that symptoms affect various systems of the body. Neurologists, pediatricians, psychologists, speech therapists, physiotherapists, among others must participate.
Rett syndrome care requires both medication and therapy. The treatment, among other things, is aimed at decreasing motor difficulties and relieving muscle stiffness. It also seeks to overcome, as far as possible, communication problems and alleviate anxiety.
The use of some drugs such as L-dopa, bromocriptine and naltrexone had some positive results. They improved reflux, anxiety, irritability, hand movements and breathing changes.
The results of medication in this condition are not permanent. Complications have to be constantly dealt with in the course of a patient’s life. The use of antacids, laxatives, antiepileptics, antiarrhythmics, calcium, vitamin D, among others, is a constant.
Feeding is also important in children with Rett syndrome. May require high-calorie and high-fat diets to overcome weight and height problems. In certain cases it is necessary to arrive at surgery to correct problems arising from scoliosis and gastroesophageal reflux.
Expectations with Rett Syndrome
The life expectancy of people with this disease is on average between 40 and 50 years. Research into the syndrome continues. These are basically aimed at the development of therapies that improve certain symptoms and for the improvement of diagnostic methods.
