Rhett's syndrome in children: causes, symptoms, signs, treatment. What is characteristic for Rett syndrome?

Rett syndrome is one of the types of progressive degenerative disease characterized by CNS damage. This is a rare genetically determined pathology, which develops mainly in girls at an early age. It can be attributed to a group of mental and mental disorders, since the ailment 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 can not offer 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 all known autism? What are its characteristic symptoms? Is it possible to cure the disease by taking medications? Answers to these and many other questions can be found by reading the article.

Some statistics

Rhett's syndrome is a pathology of a genetic nature that is supposedly hereditary in nature. In order to more accurately investigate the causes of the disease, scientists for several years conducted a territorial analysis of the spread of the disease, through which it was possible to identify a special frequency of cases of the syndrome in children from a sparsely populated area. These "foci" were noted in Norway, Hungary and Italy.

The disease began to be studied actively only during the last 15 years. At present, the true nature of this disease remains undetected until the end. Scientists from all over the world continue research on this issue, whose main goal is to search for a universal biological marker. In their opinion, it will later allow him to create new effective methods of therapy not only for this syndrome, but also for many other diseases of a similar genetic nature.

According to statistics, for 10-15 thousand children, only one child of a female with such a diagnosis appears. Rhett'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 disorders of the mental spectrum, the doctor drew attention to uncharacteristic signs of dementia: hand wringing, squeezing and long-term grip of fingers, rubbing the hands in such a way that the child washes them under water. Such movements were repeated with some periodicity and at the same time accompanied by an unstable emotional state, starting with a full immersion in yourself and ending with sharp attacks of screams. Subsequently, the pediatrician began to study these two cases and found a similar clinical picture in other medical history, which allowed him to isolate the pathology into a separate unit.

By 1966, the specialist diagnosed the syndrome with another 31 girls, and later published the results of years of research in several German-language publications. However, at that time the new pathology was not widely publicized, only 20 years later it was recognized internationally and was called "Rett's 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 pathology was taken out as a separate disease, specialists began to put forward various theories of the causes of its development. Initially, it was suggested that the ailment differs in genetic nature, that is, the gene mutation is to blame for everything. Deviations of this nature are explained by the presence of a large number of blood connections in the human bloodline.

On the other hand, there were suggestions of chromosomal abnormalities as the main cause of the disease. Here we are talking about the presence of a brittle site in the short arm of the X chromosome. Scientists suggest that this zone is responsible for the formation of pathology.

Subsequent studies on this topic have shown that patients with this diagnosis actually have some disorders in the chromosomes. Whether this factor is the main cause of mental abnormalities is still unknown.

The only thing that we managed to establish accurately is the age of the patients. According to doctors, the primary abnormalities in the work of the brain arise from the very birth of the child, and by the fourth year of his life the development has completely ceased. Moreover, such children can not fully develop in the physical sense.

The first signs of Rett syndrome

In the very first months of life the newborn looks absolutely healthy, doctors usually do not have suspicions about any violations. The head circumference is also within the normative parameters. The only thing that can indicate a disease is a slight lethargy of the muscles and symptoms of hypotension. The latter include low temperature, pale skin and excessive sweating of the palms.

Approximately by 4-5 months, signs of lagging behind in the development of some motor skills (crawling, turning over on the back) are becoming noticeable. Subsequently, children with Rett syndrome hardly manage to sit, and also stand.

Rett syndrome: symptoms of the disease

Separately, it is necessary to focus on the key symptoms for which the disease is diagnosed. In medical practice, cases are known where, due to a misinterpretation of the symptoms of an illness, an incorrect diagnosis was made, which as a result led to a rapid lethal outcome. What is characteristic for Rett syndrome?

• Specific movements of the hands. Children with this diagnosis gradually lose the skills of holding objects in their hands. At the same time there are monotonous movements, characterized by continuous fingering or clapping at the chest level. The child can bite his hands or hit them themselves on different parts of the body.
• Mental development. The disease is characterized by mental retardation and lack of cognitive activity, which is characteristic of newborns. Some babies acquire primary skills of speaking and perception of others, but eventually lose them definitively.
• Severe microcephaly. Due to the decrease in brain size, the growth of the head gradually stops.
• Convulsive seizures. A distinctive feature of the Rett syndrome is epileptic seizures.
• Developing scoliosis. Violations in the vertebral segment appear sooner or later in all children with this diagnosis. The cause of the curvature of the back is the dystonia of the muscles.

Stages of development of the syndrome

Progressing, the disease goes through four main stages, each of which has a characteristic clinical picture.

• Stage number 1. Initial deviations in the development of the child are noted at the age of four months and up to about two years. The patients are delayed head growth, there is muscle weakness, lethargy and lack of interest in the whole surrounding world.
• Stage number 2. If a kid has learned to walk or say a few words for a year, all these skills usually disappear from one to two years. At this stage, there are characteristic manipulations with hands, problems with breathing, disruption of normal coordination. Some children have epileptic seizures. The symptomatic treatment of Rett syndrome at this stage remains unsuccessful.
• Stage number 3. The period from three to nine years is stable. The third stage is characterized by mental retardation, extrapyramidal disorders, when twitchings are replaced by "stupor" and numbness.
• Stage number 4. At this stage in the development of the disease, irreversible disturbances in the functioning of the vegetative system and the spine are usually observed. By the age of ten, the frequency of seizures may decrease in patients, but the skill to move independently is completely lost. In such a state, children can stay for decades. Despite significant deviations in physical development, patients have full sexual maturation.

All of the above symptoms allow us to determine at which stage the Rett syndrome is located. Symptoms of the disease may vary depending on the rate of progression of the disease and certain individual characteristics of the body.

How to recognize pathology?

Diagnosis of the disease is determined by the observed clinical picture. When there is a suspicion of this ailment, children are usually sent for a hardware examination. It includes testing the state of the brain with CT, measuring its bioelectrical activity through EEG and ultrasound.

Disease, especially in the first stages of development, is often confused with autism. However, there are a number of differences that make it possible to differentiate these two completely different pathologies.

In the first few months of life, autistic children already exhibit characteristic signs of the disease, which can not be said about Rett's syndrome. In autistic disorder, children often resort to various manipulations with the objects around them and have a peculiar grace. Rett syndrome in children is most often manifested in stiffness in movements due to motor and muscle disorders. Moreover, it is accompanied by prolonged epileptic seizures, delayed growth of the head and difficulty with breathing. Thus, timely differential diagnosis allows you to accurately determine the main form of the disease, as well as appoint appropriate treatment and rehabilitation measures.

Medication Therapy

Unfortunately, modern methods of treating the disease are limited. The key area of therapy is the alleviation of symptomatic manifestations of pathology and the alleviation of the condition of small patients with medication. What drugs are prescribed for children with a diagnosis of Rett syndrome? Treatment usually includes:

1. Reception of anticonvulsants for blocking epileptic seizures.
2. Use of "Melatonin" to regulate the biological regime of day / night.
3. The use of drugs to improve blood circulation and stimulation of 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, Lamotrigine is usually prescribed. This drug is relatively new in pharmacology. It prevents the entry of monosodium salt in the central nervous system. 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 medicinal treatment, doctors recommend a special diet. It is made up individually for weight gain. The diet should be saturated with cellulose, vitamins and high-calorie foods. This requires frequent feeding (about every three hours). Such nutrition contributes to the stabilization of patients.

Treatment also involves massage and special gymnastics. Such sessions of physical training contribute to the development of the child's limbs, increase the flexibility of different parts of the body, and also stimulate muscle tone.

Specialists say that children with such a disease are beneficially affected by music. It not only calms, but also stimulates interest in the world around us.

Rett syndrome in children today is treated in specialized rehabilitation centers. They are available in almost all major cities. Here, small patients are adapted to the surrounding world, special developmental activities are conducted for them.

Forecasts

To assign the necessary treatment, scientists from all over the world continue to actively study the 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 it will be possible later to overcome this terrible disease. Moreover, this "medicine" has already been successfully tested on laboratory mice.

In this article, we described what constitutes Rett syndrome. Photos of children with such ailment can be seen in specialized medical reference books. This is a very rare disease, which is mainly diagnosed in girls. If compared with mental retardation, this syndrome in the first few months of the child's life does not appear external signs. In six months there are problems with psychomotor development, the baby loses all skills and completely ceases to react to surrounding phenomena and objects. Over time, the clinical picture worsens. Unfortunately, this disease can not be defeated definitively. Modern medicine offers various medications to reduce the symptoms of the disease. In addition, the physiotherapeutic procedures (gymnastics, massage), occupations in specialized rehabilitation centers and medical institutions are beneficial to the health of the child.

We hope that all the information on this topic presented in this article will be actually useful for you. Be healthy!