Rett syndrome is a type of 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, the central nervous system. Currently, doctors cannot offer an adequate treatment for this disease, since the nature of its occurrence is laid down at the molecular-cellular level.
How does this pathology differ from the well-known autism? What are its characteristic symptoms? Can the disease be cured with medication? The answers to these and many other questions can be found by reading the article.
Some statistics
Rett Syndrome is a pathology of a genetic nature, which is presumably hereditary. In order to more accurately investigate the causes of the development of the disease, scientists have been conducting research for several years.a territorial analysis of the spread of the disease, thanks to which it was possible to identify a special frequency of cases of the syndrome in children from one sparsely populated area. These "hot spots" have been reported in Norway, Hungary and Italy.
The disease began to be actively studied only over the past 15 years. At present, the true nature of this disease remains unrevealed to the end. Scientists from all over the world continue research on this issue, the main goal 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 for this syndrome, but also for many other diseases of a similar genetic nature.
According to statistics, in 10-15 thousand children only one female child with this diagnosis is born. Rett syndrome in boys is extremely rare and incompatible with life.
History of the occurrence of the disease
In 1954, the famous Austrian pediatrician Andreas Rett first discovered the symptoms of this pathology. During the examination of two girls with obvious disorders of the mental spectrum, the doctor drew attention to signs uncharacteristic of dementia: hand-wringing, squeezing and long-term gripping of fingers, rubbing the hands as if a child were washing them under water. Such movements were repeated with some periodicity and, at the same time, were accompanied by an unstable emotional state, starting with complete immersion in oneself and ending with sharp bouts of screams. Subsequently, the pediatrician began to studyof these two cases and found a similar clinical picture in other case histories, which allowed him to separate the pathology into a separate unit.
By 1966, the 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 named "Rett syndrome" in honor of the discoverer.
Since that time, scientists from all over the world have begun to actively study the disease and its etiology.
Main reasons
As soon as the pathology was taken out as a separate disease, experts began to put forward various theories of the causes of its development. Initially, it was assumed that the disease is genetic in nature, that is, gene mutation is to blame for everything. Deviations of this nature are explained by the presence of a large number of blood ties in the human pedigree.
On the other hand, chromosomal abnormalities have been suggested as the main cause of the disease. Here we are talking about the presence of a fragile area in the short arm of the X chromosome. Scientists suggest that it is this zone that is responsible for the formation of pathology.
Subsequent studies on this topic proved that patients with this diagnosis actually have some chromosomal abnormalities. Whether this factor is really the main cause of mental disorders is still unknown.
The only thing that could be established for sure is the agesick. According to doctors, primary disorders in the brain 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.
First signs of Rett syndrome
In the very first months of life, the newborn looks absolutely he althy, doctors usually do not suspect any violations. Head circumference is also within the normal range. The only thing that can indicate the 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.
About 4-5 months, signs of a lag in the development of some motor skills (crawling, turning over on the back) become noticeable. Subsequently, children with Rett syndrome have difficulty sitting as well as standing.
Rett syndrome: symptoms of the disease
Separately, it is necessary to focus on the key symptoms by which the disease is diagnosed. In medical practice, there are cases when, due to an incorrect interpretation of the signs of an illness, an incorrect diagnosis was made, which as a result led to a rapid death. What is characteristic of Rett syndrome?
- Specific hand movements. In children with this diagnosis, the skills of holding objects in their hands gradually disappear. At the same time, monotonous movements appear, characterized by continuous fingering or clapping onchest level. The child may bite their hands or hit themselves 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, but eventually lose them completely.
- Severe microcephaly. Due to the decrease in the size of the brain, the growth of the head is gradually suspended.
- Convulsive seizures. Seizures are considered the hallmark of Rett syndrome.
- Developing scoliosis. Violations in the spinal segment appear sooner or later in all children with this diagnosis. The cause of the curvature of the back is muscle dystonia.
Stages of development of the syndrome
Progressing, the disease goes through four main stages, each of which has a characteristic clinical picture.
- Stage 1. Initial deviations in the development of the child are noted at the age of four months and up to approximately two years. In patients, head growth is delayed, muscle weakness, lethargy and lack of interest in the whole world around us.
- Stage 2. If a baby has learned to walk or pronounce some words before the age of one, all these skills usually disappear from one to two years. At this stage, characteristic hand manipulations, breathing problems, and a violation of normal coordination appear. Some children have epileptic seizures. Symptomatic treatment of Rett syndrome on thisstage remains inconclusive.
- Stage 3. The period from three to nine years is stable. The third stage is characterized by mental retardation, extrapyramidal disorders, when twitches are replaced by "stupor" and numbness.
- Stage 4. At this stage of the development of the disease, irreversible disturbances in the work of the autonomic system and the 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 allow you to determine at what stage the Rett syndrome is. 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 pathology?
Diagnosis of the disease is determined by the observed clinical picture. If there is a suspicion of this disease, children are usually sent for a hardware examination. It includes testing the state of the brain using CT, measuring its bioelectrical activity using 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 syndrome. With autistic disorder, kids often resort to various manipulations with objects around them and have a kind of 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, retarded head growth, and breathing difficulties. Thus, a timely differential diagnosis allows you to accurately determine the main form of the disease, as well as prescribe appropriate treatment and rehabilitation measures.
Drug therapy
Modern treatments for the disease are unfortunately limited. The key direction of therapy is the mitigation of the symptomatic manifestations of the pathology and the relief of the condition of young patients with the help of medications. What drugs are prescribed for children diagnosed with Rett syndrome? Treatment usually includes:
- Taking anticonvulsants to block epileptic seizures.
- Using "Melatonin" to regulate the biological regime of day/night.
- The use of drugs to improve blood circulation and stimulate the brain.
If epileptic seizures recur with a large frequency, the effectiveness of anticonvulsants may be low. As a rule, children with this disease are prescribed "Carbamazepine". This tool belongs to the category of stronganticonvulsants.
In parallel, Lamotrigine is usually prescribed. This tool has recently appeared in pharmacology. It prevents the entry of monosodium s alt into the CNS. Scientists have found an increased content of this substance in the cerebrospinal fluid in patients diagnosed with Rett syndrome. The reasons for this phenomenon are still unknown.
Traditional Therapy
In addition to drug treatment, doctors recommend a special diet. It is compiled individually for weight gain. The diet should be rich in fiber, vitamins and high-calorie foods. This requires frequent feeding (about every three hours). Such nutrition contributes to the stabilization of the condition of patients.
Treatment also includes massage and special exercises. Such sessions of physical activity contribute to the development of the child's limbs, increase the flexibility of different parts of the body, and also stimulate muscle tone.
Specialists note that music has a beneficial effect on children with this disease. It not only calms, but also stimulates interest in the world around.
Rett syndrome in children today is treated in specialized rehabilitation centers. They are available in almost all major cities. Here, little patients are adapted to the outside world, special developmental classes are held for them.
Forecasts
To prescribe the necessary treatment, scientists from around the world continue to actively study the syndromeRetta. The prognosis of experts in this matter is positive. At the moment, special stem cells are being developed, with the help of which it will later be possible to overcome this terrible disease. Moreover, such a “medicine” has already been successfully tested on laboratory mice.
In this article, we told you what Rett syndrome is. Photos of children with such an ailment can be viewed in specialized medical reference books. This is a very rare disease that is predominantly diagnosed in girls. When compared with mental retardation, this syndrome does not manifest external signs in the first few months of a child's life. At six months, problems arise with psychomotor development, 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 drugs 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 he alth of the child.
We hope that all the information presented in this article on the topic will be really useful for you. Stay he althy!
