Rett syndrome is one of the varieties of a progressive degenerative disease characterized by damage to the central nervous system. This is a rare genetically determined pathology that develops mainly in girls at an early age. It can be attributed to the group of mental and mental disorders, since the disease affects the vital parts of the body: the functioning of the brain, the normal development of the musculoskeletal system, and the central nervous system. Currently, doctors cannot offer an adequate treatment for this disease, since the nature of its occurrence is laid at the molecular-cellular level.
How is this pathology different from all known autism? What are its characteristic symptoms? Is it possible to cure a disease with medication? You can find answers to these and many other questions by reading the article.
Some statistics
Rett syndrome is a pathology of a genetic nature, which is presumably of a hereditary nature. In order to more accurately investigate the causes of the development of the disease, scientists for several years conducted a territorial analysis of the spread of the disease, thanks to which it was possible to identify the special frequency of cases of the syndrome in children from one sparsely populated area. These "foci" were noted in Norway, Hungary and Italy.
The disease began to be actively studied only over the past 15 years. Currently, the true nature of this ailment remains undetected to the end. Scientists from around the world continue research in this matter, the main purpose of which is the search for a universal biological marker. In their opinion, it is he who will subsequently allow the creation of new effective methods of therapy not only of this syndrome, but also of many other diseases of a similar genetic nature.
According to statistics, for 10-15 thousand children, only one female child is born with this diagnosis. Rett's syndrome in boys is extremely rare and incompatible with life.
History of the disease
In 1954, the famous Austrian pediatrician Andreas Rhett first discovered the symptoms of this pathology. During the examination of two girls with obvious mental spectrum disorders, the doctor drew attention to signs uncharacteristic for dementia: wringing hands, squeezing and long-term adhesion of fingers, rubbing the hands in such a way as if the child washes them under water. Such movements were repeated with a certain periodicity and at the same time were accompanied by an unstable emotional state, starting with a complete absorption in oneself and ending with sharp bouts of screaming. Subsequently, the pediatrician set about studying these two cases and discovered a similar clinical picture in other medical histories, which allowed him to single out the pathology as a separate unit.
By 1966, a specialist diagnosed the syndrome in 31 more girls, and later published the results of many years of research in several German-language publications. However, at that time, the new pathology did not receive wide publicity, only 20 years later it was recognized internationally and was called "Rett syndrome" in honor of the discoverer.
Since that time, scientists from around the world have taken up the active study of the disease and its etiology.
Main reasons
As soon as the pathology was taken into a separate disease, specialists began to put forward various theories of the causes of its development. Initially, it was suggested that the disease is distinguished by its genetic nature, that is, the gene mutation is to blame. Deviations of this nature are explained by the presence of a large number of blood ties in a person’s family tree.
On the other hand, there have been suggestions of chromosomal abnormalities as the main cause of the disease. Here we are talking about the presence of a brittle area in the short arm of the X chromosome. Scientists suggest that it is this area that is responsible for the formation of pathology.
Subsequent studies on this topic have proven that patients with this diagnosis actually have some chromosome abnormalities. Whether this factor is really the main cause of mental disorders is still unknown.
The only thing that was able to establish exactly is the age of the patients. According to doctors, the primary disturbances in brain function occur from the very birth of a child, and by the fourth year of his life, development completely stops. Moreover, such children cannot fully develop in the physical sense.
The first signs of rett syndrome
In the very first months of life, a newborn looks completely healthy, doctors usually do not suspect any violations. The circumference of the head is also within the normative indicators. The only thing that may indicate a disease is a slight lethargy of the muscles and symptoms of hypotension. The latter include low temperature, pallor of the skin and excessive sweating of the palms.
By about 4-5 months, signs of a lag in the development of some motor skills (crawling, turning over to the back) become noticeable. Subsequently, children with Rett syndrome have difficulty sitting and standing.
Rett syndrome: symptoms of the disease
Separately, it is necessary to focus on the key symptoms that diagnose the disease. In medical practice, there are cases when, due to an incorrect interpretation of the symptoms of an ailment, an incorrect diagnosis was made, which as a result led to a quick fatal outcome. What is characteristic of rett syndrome?
- Specific hand movements. In children with such a diagnosis, the skills of holding items in their hands gradually disappear. In this case, monotonous movements appear, characterized by continuous fingering or clapping at the chest level. A child can bite his hands or hit them on different parts of the body.
- Mental development. The disease is characterized by mental retardation and lack of cognitive activity, which is typical for newborns. Some babies acquire primary speaking and perception skills of others, but eventually lose them permanently.
- Severe microcephaly. Due to the decrease in brain size, head growth gradually stops.
- Convulsive seizures. A distinctive sign of Rett's syndrome are epileptic seizures.
- Developing scoliosis. Disorders in the vertebral segment appear sooner or later in all children with this diagnosis. The cause of the back curvature is dystonia of the muscles.
Stages of the syndrome
Progressing, the disease goes through four main stages, each of which has a characteristic clinical picture.
- Stage No. 1. Initial deviations in the development of the child are noted at the age of four months and up to about two years. In patients, head growth is delayed, muscle weakness, lethargy and lack of interest in the entire surrounding world appear.
- Stage No. 2. If the baby learned to walk or pronounce some words before the age of one year, all these skills usually disappear from one to two years. At this stage, characteristic hand manipulations, breathing problems, impaired normal coordination appear. Some children have epileptic seizures. Symptomatic treatment of Rett syndrome at this stage remains inconclusive.
- Stage number 3. The period from three to nine years is stable. The third stage is characterized by mental retardation, extrapyramidal disorders, when twitching is replaced by "stupor" and numbness.
- Stage No. 4. At this stage of the development of the disease, irreversible disturbances in the functioning of the autonomic system and spine are usually observed. By the age of ten, the frequency of seizures may decrease in patients, but the ability to move independently is completely lost. In this state, children can stay for decades. Despite significant deviations in physical development, patients have full puberty.
All of the above symptoms can determine at what stage is the Rett syndrome. Symptoms of the disease may vary depending on the rate of progression of the disease and some individual characteristics of the body.
How to recognize a pathology?
Diagnosis of the disease is determined by the observed clinical picture. If there is a suspicion of this ailment, children are usually sent for a hardware examination. It includes testing the state of the brain using CT, measuring its bioelectric activity by EEG and ultrasound.
The disease, especially in the early stages of development, is often confused with autism. However, there are a number of differences that allow us to differentiate these two completely different pathologies.
In the first few months of life, autistic children already have characteristic signs of the disease, which cannot be said about Rett's syndrome. With autistic disorder, children often resort to various manipulations with the objects surrounding them and have a peculiar grace. Rett syndrome in children is most often manifested by stiffness in movements due to motor and muscle disorders. Moreover, it is accompanied by prolonged epileptic seizures, a slowdown in head growth, and difficulty breathing. Thus, the timely differential diagnosis allows you to accurately determine the main form of the disease, as well as prescribe the appropriate treatment and rehabilitation measures.
Drug therapy
Modern methods of treating the disease, unfortunately, are limited. A key area of therapy is the mitigation of the symptomatic manifestations of pathology and the alleviation of the condition of small patients with the help of medications. What drugs are prescribed for children with Rett syndrome? Treatment usually includes:
- Taking anticonvulsants to block epilepsy attacks.
- The use of "Melatonin" to regulate the biological regime of day / night.
- The use of drugs to improve blood circulation and stimulate the brain.
If epileptic seizures are repeated with great frequency, the effectiveness of anticonvulsants may be low. As a rule, children with this disease are prescribed Carbamazepine. This drug belongs to the category of strong anticonvulsants.
In parallel, usually prescribed "Lamotrigine." This tool has recently appeared in pharmacology. It prevents the ingress of monosodium salt into the central nervous system. Scientists have found an increased content of this substance in the cerebrospinal fluid in patients with a diagnosis of Rett syndrome. The reasons for this phenomenon are still unknown.
Traditional therapy
In addition to drug treatment, doctors recommend a special diet. It is individually compiled for weight gain. The diet should be saturated with fiber, vitamins and high-calorie foods. Frequent feeding is required (approximately every three hours). Such nutrition helps to stabilize the condition of patients.
Treatment also involves massage and special gymnastics. Such physical training sessions contribute to the development of the child's limbs, increase the flexibility of different parts of the body, and also stimulate muscle tone.
Experts note that music is beneficial for children with such a disease. It not only calms, but also stimulates interest in the world.
Rett's syndrome in children is now treated in specialized rehabilitation centers. They are available in almost all major cities. Here, small patients are adapted to the world around them, special educational exercises are conducted for them.
Forecasts
To prescribe the necessary treatment, scientists from around the world continue to actively study Rett syndrome. The forecast of specialists in this matter is positive. At the moment, special stem cells are being developed, with the help of which later it will be possible to overcome this terrible ailment. Moreover, such a “medicine” has already been successfully tested on laboratory mice.
In this article we talked about what is Rett syndrome. Photos of children with such an ailment can be found in specialized medical directories. This is a very rare disease, which is mainly diagnosed in girls. Compared with mental retardation, this syndrome in the first few months of a child’s life does not manifest itself with external signs. At six months, problems with psychomotor development arise , the baby loses all skills and completely stops responding to surrounding phenomena and objects. Over time, the clinical picture worsens. Unfortunately, this disease cannot be defeated completely. Modern medicine offers various medications to reduce the symptoms of the disease. In addition, physiotherapeutic procedures (gymnastics, massage), classes in specialized rehabilitation centers and medical institutions have a beneficial effect on the child’s health.
We hope that all the information on this topic presented in this article will be really useful for you. Be healthy!