Rett Syndrome

Rett Syndrome

In 1966 the physician Prof. Dr. Andreas Rett a rare and previously unknown disease that affects almost exclusively girls. The disease, which causes severe mental and physical disabilities, was named Rett Syndrome after him.

What is Rett Syndrome?

Rett syndrome is a genetic defect on the X chromosome. The disease can take very different forms, from a very mild to a very severe form. For about insular talent, please visit bittranslators.com.

The disease initially manifests itself as developmental disorders in early childhood. After a usually normal pregnancy and birth, the first few months of life for the patient are also normal. They develop in the same way as other children who do not have the disease. Between the ages of seven months and two years of age, Rett syndrome children first show a complete standstill of development.

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

Causes

The causes of Rett syndrome lie in the genes. The defect is on the X chromosome and occurs initially in both male and female embryos during conception.

However, the male embryos almost always die, so the defect occurs almost exclusively in girls. The defect is almost always passed from father to child. Around fifty girls with Rett Syndrome are born in Germany every year.

The defective gene was identified in 1983 by neurogeneticist Dr. Huda Zoghi from Stanford University in the USA. Only since then has it been possible 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. Girls are mostly affected. After Down syndrome, the disease is the most common disability in girls. Development is completely normal up to about six months after birth. From the sixth month, the development seems to come to a standstill. After that, the trend is declining.

The motor skills already acquired are lost. For example, the children no longer know how to use their hands. Because children lose emotional attachment to their parents, Rett syndrome bears a strong resemblance to autism. Language development is delayed or does not occur at all. However, the articulation of individual words is often possible.

Not all of the affected girls learn to walk. The movement is usually only possible with the help of others and appears unsteady and legs apart. From around the age of three, the autistic traits recede and emotional interest begins again. The children try to communicate.

During the course of the disease, there are massive misalignments of the skeleton, cramps and digestive problems. Epileptic seizures occur up to the age of four. Those affected remain severely disabled throughout their lives and need round-the-clock care.

Diagnosis & History

The diagnosis of Rett syndrome is often difficult because the children initially develop normally. If there is no concrete suspicion of a genetic defect, no genetic testing 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 reverse development of skills already learned begins from the seventh month of life. In addition to the symptoms already described, reduced skull growth can be observed over the course of the disease, which can begin between the ages of five months and four years.

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

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

Complications

Children with Rett Syndrome suffer from very severe limitations and developmental disorders. As a rule, growth is also disturbed, so that those affected also suffer from short stature. There is also severe intellectual disability. This can lead to teasing or bullying, especially in 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 master it alone. Speech disorders are also among the symptoms of Rett syndrome and are accompanied by problems with coordination and concentration. Furthermore, patients often suffer from gait disorders. Parents and relatives can also be affected by the symptoms of Rett syndrome, so that they too develop mental disorders and mood disorders.

Since there is no causal therapy for the syndrome, only the symptoms are treated. There are no particular complications. It cannot generally be predicted whether life expectancy will be reduced as a result of Rett syndrome. Unfortunately, the syndrome cannot be prevented.

When should you go to the doctor?

Since Rett syndrome does not heal itself, this disease must be treated by a doctor in any case. However, only a 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.

A doctor should be consulted if the person shows signs of autism. Medical treatment must also be carried out if the person concerned has cramps or suffers from severe digestive problems.

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

Treatment & Therapy

Treatment of Rett syndrome is symptomatic. This means that there is only the possibility of treating the individual symptoms associated with the disease.

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

Physiotherapy can help to at least partially compensate for the movement deficits. 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. Being close to animals can also in itself have positive effects on people with disabilities. In addition, the therapy strengthens the sense of balance, which is often disturbed in patients with Rett syndrome. Hippotherapy is also said to 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 doctor treating you.

Prevention

Prevention of Rett syndrome is hardly possible. Only a genetic test of the parents before pregnancy or a prenatal test of the child (genetic testing in the womb) can provide information about whether a child could develop Rett syndrome. However, the mutations on the X chromosome also occur when those affected show no symptoms at all.

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

Aftercare

Rett Syndrome poses a major challenge for the affected families. Children with Rett Syndrome must be given ongoing care because they suffer from severe physical and mental disabilities. The environment should be designed to be handicap accessible.

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 limited mobility. The insufficiently developed language ability can be promoted by 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 child’s progress and new symptoms are recorded. Adults with Rett Syndrome still need optimal care. The Rett Syndrome Germany association offers affected families the opportunity to exchange ideas and find out about current treatment options.

You can do that yourself

Children suffering from Rett Syndrome have severe physical and mental disabilities. The parents must ensure that the child is cared for on a permanent basis. Disabled toilets must be installed in the household, stair lifts installed and other measures must be taken to enable the child to lead a normal everyday life. Appropriate adjustments also reduce the risk of accidents.

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

Rett syndrome is a major challenge for everyone affected. Therapeutic support is necessary to relieve the parents and to improve how they deal with the sick child. In addition, medical supervision is always necessary. It is best for parents to keep a diary, noting progress and any complaints. Based on this information, the therapy can be optimally designed.

Adults with Rett Syndrome will continue to need care and should connect with others who are affected whenever possible. The association Rett Syndrom Deutschland eV offers various projects for affected families and provides information on current treatment options.

Rett Syndrome