Rett Syndrome

In 1966, the physician Prof. Dr. Andreas Rett a rare and previously unknown disease that almost exclusively affects girls. According to him, the disease was considered to cause severe mental and physical disabilities Rett Syndrome named.

What is Rett Syndrome?

The Rett Syndrome is a genetic defect on the X chromosome. The disease can take very different forms, from very mild to very severe.

The disease initially manifests itself in developmental disorders in early childhood. After a normally normal pregnancy and childbirth, the first months of life of the sick are normal. They develop in the same way as other children who do not have the disease. Between the seventh month and the second year of life, Rett syndrome children initially show a total developmental arrest.

After this phase, already learned skills such as speaking or hand movements develop back again. People begin to show symptoms of autism and have various movement disorders. Along with this, mental retardation, epileptic seizures and movement stereotypes can be observed. Movement stereotypes of Rett syndrome are mainly repetitive hand movements that are reminiscent of the sequence of movements when washing hands.

causes

The causes for that Rett Syndrome are in the genes. The defect is on the X chromosome and occurs during conception in both male and female embryos.

However, the male embryos almost always die, so that the defect almost only occurs in girls. The defect is almost always passed on from father to child. Every year around fifty girls are born with Rett syndrome in Germany.

The defective gene was discovered in 1983 by neurogeneticist Dr. Huda Zoghi from Stanford University in the USA. Only since then has it been possible at all to identify the cause of the disease using a genetic test and not just through the symptoms.

Symptoms, ailments & signs

Rett syndrome is a disease that occurs in early childhood. Mostly girls are affected. The disease is the most common disability in girls, after Down's syndrome. Up to about six months after the birth, development is completely normal. From the sixth month onwards, development initially seems to come to a standstill. The development then declined.

The motor skills already acquired are lost. For example, the children no longer know how to use their hands. As the children lose the emotional bond with their parents, Rett syndrome is very similar to autism. Linguistic development is delayed or does not occur at all. However, it is often possible to articulate individual words.

Not all of the girls involved learn to walk. Movement is usually only possible with outside help and appears insecure and legs apart. From around the age of three the autistic traits recede and emotional interest sets in again. The children try to communicate.

During the course of the disease, massive deformities of the skeleton, cramps and digestive problems occur. Epileptic seizures occur up to the age of four. Those affected remain severely disabled for life and have to be looked after around the clock.

Diagnosis & course

The diagnosis of the Rett Syndrome is often difficult because the children develop normally at first. If there is no specific suspicion of a genetic defect, no genetic examination is carried out, which is the only way of early detection of Rett syndrome.

If the disease is not diagnosed by a genetic test, this can be done based on the symptoms. The regression of already learned skills begins from the seventh month of life. In addition to the symptoms already described, decreased skull growth can be observed in the course of the disease, which can begin between the fifth month of life and the fourth year of life.

In addition, there is severe cognitive impairment and either the inability to walk independently or a wide-legged and unsteady gait. Diagnosis based on symptoms is often only made between the ages of two and five. Additional symptoms can include insomnia, scoliosis (deformity of the spine), epileptic seizures, circulatory disorders and reduced growth.

From around the age of ten, patients suffer from a massive deterioration in motor skills, so that they are dependent on a wheelchair.

Complications

In Rett syndrome, the children affected suffer from very severe limitations and developmental disorders. As a rule, growth is also disturbed, so that those affected also suffer from short stature. Furthermore, there is a severe mental handicap. This can lead to teasing or bullying, especially among children, so that the patients also develop mental health problems.

They are often dependent on the help of other people in their everyday life and cannot cope with it on their own. Speech disorders are also among the symptoms of Rett syndrome and are accompanied by disorders of coordination and concentration. Furthermore, the patients often suffer from gait disorders. Parents and relatives can also be affected by the symptoms of Rett syndrome, so that they too suffer from mental disorders and moods.

Since there is no causal therapy for the syndrome, only symptoms are treated. There are no particular complications. Whether there will be a reduced life expectancy due to Rett syndrome cannot generally be predicted. Unfortunately, the syndrome cannot be prevented.

When should you go to the doctor?

Since the Rett syndrome does not heal itself, this disease must definitely be treated by a doctor. However, only purely symptomatic treatment can be carried out, since Rett syndrome is a genetic disease. A doctor should be consulted if the person concerned shows the signs of Down syndrome.

See a doctor if the person shows signs of autism. Furthermore, medical treatment must be carried out if the person concerned has cramps or suffers from severe digestive problems.

The diagnosis of Rett syndrome can be made by a pediatrician or a general practitioner. However, treatment by various specialists is still necessary to treat the symptoms of Rett syndrome.

Treatment & Therapy

Treatment of the Rett Syndrome occurs symptomatically. This means that there is only the possibility of treating the individual complaints that are associated with the disease.

There is no cure for the disease itself as it is a genetic defect. Since the symptoms can differ greatly in their type and severity, not every therapy is suitable for every patient. The therapy is carried out after consultation with the attending physician, the following therapy options are common for Rett syndrome, but can also be completely unsuitable in individual cases.

Physiotherapy can help at least partially compensate for the lack of movement. Practicing movement sequences and strengthening the muscles can help to maintain mobility for as long as possible. Hippotherapy is another word for therapeutic riding. Riding strengthens both self-confidence and trust in others.Proximity to animals can in itself have positive effects on people with deficits. The therapy also strengthens the sense of balance, which is often disturbed in patients with Rett syndrome. Hippotherapy should also have a relaxing effect.

In occupational therapy, motor skills are trained in order to ensure more independence in everyday life, for example when eating. There are other therapies that can be very helpful in Rett syndrome. These must always be discussed with the treating doctor.

prevention

A prevention of Rett Syndrome is hardly possible. Only a genetic test of the parents before the pregnancy or a prenatal test of the child (a genetic examination in the womb) can reveal whether a child could develop Rett syndrome. However, the mutations on the X chromosome also occur when those affected have no symptoms at all.

This means that neither the parents' genetic test nor the prenatal examination can provide any reliable information as to whether a child will actually develop Rett syndrome. There is also hardly any risk of repetition in an already ill child.

Aftercare

The Rett syndrome represents a great challenge for the families concerned. For children with the Rett syndrome permanent care must be guaranteed, as they suffer from severe physical and mental limitations. The environment should be designed for the disabled.

This includes appropriate toilet facilities, stair lifts and all measures that make everyday life as easy as possible for the sick child. This also minimizes the increased risk of accidents. Since the social behavior of children with Rett syndrome is sometimes severely restricted, placement in a special kindergarten is recommended.

From a certain age, attending a self-help group can also be very helpful. Regular and targeted physiotherapy improves the restricted mobility. The poorly developed language ability can be promoted through supporting exercises. Therapeutic support also relieves the parents and helps to make dealing with the sick child easier.

At the same time, medical supervision is always necessary. In order to ensure optimal therapy, it is advisable for the parents to keep a diary in which the progress and new symptoms of the sick child are recorded. Adults with Rett Syndrome still need optimal care. The association Rett Syndrom Germany offers affected families the opportunity to exchange ideas and to find out about current treatment options.

You can do that yourself

Children with Rett syndrome have severe physical and mental disabilities. The parents must ensure that the child is cared for on a long-term basis. In the household, handicapped-accessible toilets must be installed, stair lifts installed and other measures taken to enable the child to have a normal everyday life. Appropriate adjustments also reduce the risk of accidents.

Children with Rett syndrome should go to a special kindergarten at an early age, ideally with other affected people, so that the restricted social behavior can be effectively compensated for. You can also visit a self-help group. The restricted physical mobility can be promoted through targeted physiotherapy. The lack of language development is promoted by supported communication.

The Rett syndrome represents a great challenge for all those affected. Therapeutic support is necessary in order to relieve the parents and to improve the way they deal with the sick child. In addition, medical supervision is always necessary. It is best for parents to keep a diary in which they note progress and any complaints. Based on this information, the therapy can be optimally designed.

Adult people with Rett Syndrome still need care and should exchange ideas with other people who have it. The Rett Syndrom Deutschland e.V. association offers various projects for affected families and provides information on current treatment options.