In 1966, medical doctor Prof. Dr. Andreas Rett discovered a rare and previously unknown disorder 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 courses, from very mild to very severe. The disease initially manifests itself as developmental disorders in early childhood. After a normally normal pregnancy and birth, the first months of life are normal. They develop in the same way as other children who do not suffer from the disease. Between the seventh month of life and the second year of life, Rett syndrome children initially show a total developmental arrest. After this phase, already learned abilities such as speech or hand movements develop back again. Those affected begin to show symptoms of autism and exhibit various movement disorders. Accompanying mental retardation, epileptic seizures and movement stereotypies can be observed. Movement stereotypies of Rett syndrome are mainly repetitive hand movements reminiscent of hand washing movements.
Causes
The causes of Rett syndrome lie in the genes. The defect is located on the X chromosome and initially occurs in both male and female embryos at conception. However, the male embryos almost always die, so the defect almost only occurs in girls. The defect is almost always passed from father to child. Every year, about fifty girls are born with Rett syndrome in Germany. The defective gene was discovered in 1983 by the neurogeneticist Dr. Huda Zoghi of Stanford University in the USA. Only since then has it been possible at all to identify the cause of the disease by means of a genetic test and not just by symptoms.
Symptoms, complaints and signs
Rett sydrome is a disease that occurs in early childhood. It usually affects girls. The disease is considered, after Down syndrome, the most common disability in girls. Until about six months after birth, development is completely normal. From the sixth month onwards, development initially seems to come to a standstill. After that, development regresses. The motor skills already acquired are lost. For example, the children no longer know how to use their hands. Because the children lose emotional attachment to their parents, Rett syndrome shows strong similarities to autism. Linguistic development is delayed or stops altogether. However, articulation of individual words is often possible. Not all of the affected girls learn to walk. Movement is usually only possible with outside help and appears unsteady and wide-legged. From about 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 skeletal malpositions, convulsions and digestive problems occur. Epileptic seizures occur by the age of four. Affected individuals remain severely disabled throughout their lives and require around-the-clock care.
Diagnosis and course
Diagnosis of Rett syndrome is often difficult because children initially develop normally. If there is no specific suspicion of a genetic defect, no genetic testing is performed, which is the only way to detect Rett syndrome early. If the disease is not diagnosed by a genetic test, it is possible on the basis of the symptoms. The regression of already learned skills starts from the seventh month of life. In addition to the symptoms already described, reduced skull growth can be observed during the course of the disease, which can begin between the fifth month of life and the fourth year of life. There is also a high degree of cognitive impairment and either the inability to walk independently or a wide-legged and unsteady gait. Diagnosis based on symptoms often does not occur until between the ages of two and five. Additional symptoms may include sleep disturbances, scoliosis (deformities of the spine), epileptic seizures, circulatory problems, and decreased growth.Patients suffer from a massive deterioration of motor skills from about the age of ten, so that the are dependent on a wheelchair.
Complications
In Rett syndrome, affected children suffer from very severe developmental limitations and disorders. As a rule, growth is also disturbed in this case, so that the affected persons also suffer from short stature. Furthermore, there is a severe mental retardation. Especially in children, teasing or bullying can occur, so that the patients also suffer from psychological complaints. 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 disturbances in coordination and concentration. Furthermore, the patients often also suffer from gait disorders. Parents and relatives can also be affected by the symptoms of Rett syndrome, so that they also suffer from psychological disorders and moods. Since there is no causal therapy for the syndrome, only the symptoms are treated. Special complications do not occur. Whether there is a reduced life expectancy due to Rett syndrome cannot be predicted in general. Unfortunately, the syndrome cannot be prevented.
When should you see a doctor?
Since there is no self-healing in Rett syndrome, this condition 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 affected person shows the signs of Down syndrome. A doctor must be consulted if the affected person shows signs of autism. Furthermore, medical treatment must also be sought if the affected person exhibits convulsions or suffers from severe digestive discomfort. The diagnosis of Rett syndrome can be made by a pediatrician or by a general practitioner. Further, however, treatment by various specialists is necessary to treat the symptoms of Rett syndrome.
Treatment and therapy
The treatment of Rett syndrome is symptomatic. This means that there is only the possibility of treating the individual complaints associated with the disease. For the disease itself there is no cure so far, because it is a genetic defect. Since the symptoms can vary greatly in their nature and severity, not every therapy is suitable for every patient. The therapy is done after consultation with the attending physician. The following therapy options are common in Rett syndrome, but may be completely unsuitable in individual cases. Physiotherapy can help to at least partially compensate for the movement deficits. Practicing movement patterns and strengthening muscles can help maintain mobility for as long as possible. Hippotherapy is another word for therapeutic riding. On the one hand, horseback riding strengthens self-confidence as well as trust in others. Moreover, the proximity to animals can in itself have positive effects on people with deficits. In addition, the therapy strengthens the sense of balance, which is often disturbed in patients with Rett syndrome. In addition, hippotherapy is said to have a relaxing effect. In occupational therapy, motor skills are trained to ensure greater 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 attending physician.
Prevention
Prevention of Rett syndrome is hardly possible. Only a genetic test of the parents before pregnancy or a prenatal test of the child (a genetic test in the womb) can provide information about whether a child could develop Rett syndrome. However, the mutations on the X chromosome occur even when affected individuals show no symptoms at all. This means that neither the parents’ genetic test nor the prenatal examination can provide information with certainty about whether a child will actually develop Rett syndrome. There is also little risk of recurrence in a child who already has the disease.
Follow-up
Rett syndrome is a major challenge for affected families.Permanent care must be provided for children with Rett syndrome, as they suffer from severe physical and mental limitations. The environment should be designed to meet the needs of 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. At a certain age, attendance at a self-help group can also be very helpful. Regular and targeted physiotherapy improves the restricted mobility. The poorly developed speech ability can be promoted by supportive exercises. Therapeutic support also relieves the parents and helps to make it easier to deal with the sick child. At the same time, medical supervision is always necessary. In order to ensure an optimal therapy, it is recommended for the parents to create a diary in which progress and newly occurring complaints of the sick child are recorded. Adults with Rett syndrome also continue to need optimal care. The association Rett Syndrome Germany offers affected families the opportunity to exchange information and learn about current treatment options.
What you can do yourself
Children suffering from Rett syndrome have severe physical and mental disabilities. Parents must provide permanent care for the child. In the home, handicap-accessible toilets must be installed, stair lifts must be installed, and other measures must be taken to allow the child to live a normal daily life. Appropriate adaptations will also reduce the risk of accidents. Children with Rett syndrome should go to a special kindergarten at an early age, ideally with other affected children, so that the restricted social behavior can be effectively compensated. In addition, it is a good idea to attend a self-help group. The restricted physical movement ability can be promoted by specific physiotherapy. The lack of speech development is promoted by aided communication. Rett syndrome is a great challenge for all those affected. Therapeutic support is necessary to relieve the parents and to improve the handling of the sick child. Accompanying medical supervision is also always necessary. It is best for the parents to keep a diary in which they note the progress and any complaints. Based on this information, the therapy can be optimized. Adults with Rett syndrome still need care and should exchange information with other affected people if possible. The association Rett Syndrom Deutschland e.V. offers various projects for affected families and provides information on current treatment options.
