Rett syndrome in children, what it is, photos, symptoms and signs

Rett syndrome is a fairly common type of genetic pathology. According to official statistics, such a child is born in 1 in 10–15 thousand. As a result of the breakdown of the X chromosome, the mental as well as physical development of the child is delayed. There are more girls with this diagnosis, since the presence of two chromosomes gives them a chance of survival. A boy who gets such an anomaly will most likely die during pregnancy. Only a fraction of male infants are born with Rett disease but only live about 2 years. This occurs due to a combination with another pathology, Klinefelter syndrome, when an extra X chromosome is present in the male set of genes. An adult cannot acquire Rett during the course of his life. A distinctive feature of the congenital disease is special hand movements. The child seems to be constantly rubbing or washing them.

Attention! This disease should not be confused with Tourette's syndrome, which is also a genetic congenital abnormality of the central nervous system, but differs in everything else.

Some statistics

Rett syndrome is a pathology of a genetic nature that is presumably hereditary. In order to more accurately investigate the causes of the development of the disease, scientists for several years carried out a territorial analysis of the spread of the disease, thanks to which they were able to identify a 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 disease remains unclear. Scientists from all over the world continue research on this issue, the main goal of which is to find a universal biological marker. In their opinion, it is this that will subsequently make it possible to create new effective methods of treating not only this syndrome, but also many other diseases of a similar genetic nature.

According to statistics, for every 10-15 thousand children, only one female child is born with this diagnosis. Rett syndrome in boys is extremely rare and incompatible with life.

Prognosis and prevention

The prognosis of Rett syndrome is unfavorable, since this disease steadily leads to severe mental retardation, as well as to a number of motor and neurological disorders. Patients with this pathology, with appropriate care and symptomatic treatment, can live up to 40-50 years, but their risk of sudden death is quite high. The prognosis of Rett syndrome significantly worsens and the life expectancy of patients is reduced by the presence of malformations of internal organs, which occurs in approximately a third of cases. The main cause of death is respiratory or multiple organ failure and sudden death; in adult patients there is also a high risk of stroke. Prevention of Rett syndrome is possible only in the form of prenatal diagnosis of this disease using genetic methods. If a boy has a defective form of the MECP2 gene, disruption of the formation of the brain and internal organs can be noticed during preventive ultrasound examinations during pregnancy.

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History of the disease

In 1954, the famous Austrian pediatrician Andreas Rhett first discovered the symptoms of this pathology. During an examination of two girls with obvious mental spectrum disorders, the doctor noticed signs uncharacteristic of dementia: wringing of hands, squeezing and long-term clasping of fingers, rubbing hands as if a child were washing them under water. Such movements were repeated with some frequency and were accompanied by an unstable emotional state, ranging from complete self-absorption to sudden bouts of screaming. Subsequently, the pediatrician began to study these two cases and discovered a similar clinical picture in other medical histories, which allowed him to isolate 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 identified as a separate disease, experts began to put forward various theories about the reasons for its development. Initially, it was assumed that the disease was genetic in nature, that is, gene mutation was to blame. Deviations of this nature are explained by the presence of a large number of blood ties in a person’s 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 region 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 abnormalities in their chromosomes. Whether this factor is really the main cause of mental disorders still remains unknown.

The only thing that could be established accurately was the age of the patients. According to doctors, primary disorders in brain function occur from the very birth of a child, and by the fourth year of life, development completely stops. Moreover, such children cannot fully develop in the physical sense.

Diagnostics

Rett syndrome is a clinical diagnosis, meaning a number of clinical signs are required to make it. The International Association for the Study of Rett Syndrome has proposed diagnostic criteria for this disease. Among them there are several groups:

necessary (their presence is mandatory to establish a diagnosis);
additional (their presence confirms the diagnosis, but is not mandatory);
exclusive (the presence of at least one of them rejects Rett syndrome).

The necessary criteria include:

absence of pathology in the fetus detected during pregnancy and in the first 7 days of life, normal period of labor;
normal head circumference at birth and a slowdown in the rate of its growth between 5 months and 4 years;
loss of purposeful hand movements between the ages of six months and 30 months, coinciding with the loss of communication skills;
the appearance of stereotypical hand movements after the loss of purposeful ones;
speech impairment and mental retardation;
walking disorders that appear between the ages of 1 and 4 years.

Rett syndrome does not always have all the necessary criteria for the disease. Such forms of the disease are classified as incomplete; they are usually characterized by a milder course.

Additional criteria include:

the presence of breathing disorders in the form of periods of rapid breathing followed by stops. The appearance of breathing disorders only during wakefulness;
seizures;
violation of muscle tone in combination with their atrophy;
impaired blood flow in the peripheral parts of the extremities;
scoliosis;
growth retardation;
small, underdeveloped feet (due to impaired walking, the foot does not reach the required degree of development);
the presence of changes in the electroencephalogram in the form of epiactivity even in the absence of obvious epileptic seizures.

Exclusion criteria:

intrauterine growth restriction;
increase in the size of internal organs (organomegaly);
retinopathy, or optic disc atrophy;
small head size (microcephaly) already at birth;
confirmed perinatal brain injury (eg, trauma during childbirth);
severe infection or traumatic brain injury resulting in neurological disorders;
the existence of another (not Rett syndrome) neurological or metabolic disease confirmed that is progressive.

The first signs of Rett syndrome

In the very first months of life, the newborn looks absolutely healthy; doctors usually do not suspect any abnormalities. Head circumference is also within standard limits. The only thing that may indicate illness is slight muscle flaccidity and symptoms of hypotension. The latter include low temperature, pale skin and excessive sweating of the palms.

By about 4-5 months, signs of a delay in the development of some motor skills (crawling, rolling over on their back) become noticeable. Subsequently, children with Rett syndrome have difficulty sitting and standing.

Causes of the syndrome

The syndrome is caused by mutations in the MECP2 gene on the X chromosome, one of the two chromosomes that determine a person's sex. Girls have two X chromosomes, while boys have one X and one Y chromosome. Rett syndrome is most often diagnosed in girls because they have a second copy of the MECP2 gene that is able to work correctly and the child survives.

Due to the lack of a copy of the MECP2 gene in boys, when it is mutated on the only X chromosome, such children either die in utero or become very sick. In most cases, Rett syndrome is not inherited (it is not passed from parent to child). The probability of illness in subsequent children of parents who have one affected child is approximately 1%.

To date, more than 200 MECP2 gene mutations associated with Rett syndrome have been identified. During normal human development, the MECP2 gene helps create a protein (Methyl-CpG binding protein 2) that regulates the activity of other genes in the body. When protein levels change due to a defective gene, it causes other genes in the body to change, which ultimately affects normal brain development.

Children with the disorder may exhibit a wide range of symptoms. This may be influenced by the location, type and severity of the gene mutation, and there may be other factors. More research is needed to better understand the MECP2 gene and how it affects various body functions.

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 where, due to misinterpretation of the signs of an illness, an incorrect diagnosis was made, which resulted in a rapid death. What is characteristic of Rett syndrome?

Specific hand movements. Children with this diagnosis gradually lose the ability to hold objects in their hands. In this case, monotonous movements appear, characterized by continuous fingering or clapping at chest level. The child may bite his hands or hit himself with 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 children acquire primary skills of speaking and perceiving others, but over time they completely lose them.
Severe microcephaly. Due to the decrease in brain size, head growth gradually stops.
Convulsive seizures. Epileptic seizures are considered a hallmark of Rett syndrome.
Developing scoliosis. Disorders in the spinal segment appear sooner or later in all children with this diagnosis. The cause of back curvature is muscle dystonia.

Symptoms

Most often, girls with Rett syndrome are born without any noticeable abnormalities. They behave adequately, have average height, weight, head circumference, chest circumference, and, in fact, are no different from other newborns. Only in some cases are minor deviations possible, which do not always attract the attention of even medical personnel:

diffuse decrease in muscle tone;
later development of motor skills (holding the head, sitting).

Most often, until 4-6 months, girls with Rett syndrome do not detect anything. But from the second half of life, health problems arise that make parents and doctors wary. The first stage of the disease begins - stagnation. It is characterized by:

a slowdown in the rate of head growth, that is, monthly increases in head circumference become too small or absent altogether. The body grows, but the head does not. Stunted head growth is a consequence of arrested brain development;
slower growth of limbs;
obvious muscle weakness and decreased muscle tone, which become more pronounced (if observed from birth);
loss of activity, curiosity, lack of interest in the environment, including games;
suspension of the formation of new motor skills (for example, a girl is 9-10 months old, but she still does not sit or even make the appropriate attempts). On average, by 12-14 months, children with Rett syndrome lose all previously acquired self-care skills.

The first stage most often manifests itself at the age of 6 months - 1.5 years. Cases of later onset of the disease have also been described - at 2.5 years.

Following the stagnation stage, the second phase of the disease develops: the regression phase. As a rule, it covers the age period from 1 year to 3 years. The regression phase is characterized by:

reverse development of already acquired skills. If the child already knew how to talk, then speech is lost, if he walked, he stops doing so, and so on;
purposeful hand movements are lost (cannot grasp an object, hold it in his hands, cannot manipulate toys). Occasionally, such changes may not occur until 3-4 years of age, but sooner or later they become impossible;
Instead of purposeful movements in the hands, chaotic stereotypical and uncontrolled movements appear in the form of actions simulating washing, in the form of rubbing palms together (as when washing hands), clapping, wringing, squeezing, squeezing hands. Once they appear, such movements continue for almost the entire waking period and are completely absent during sleep. More rare stereotypic movements may include finger sucking, biting, or tapping on the chest or face. This sign is one of the most typical symptoms of Rett syndrome;
causeless anxiety, screaming and squealing, lack of emotional reaction to others (including loved ones). As a result of such antisocial behavior, the child may be misdiagnosed as having autism;
the appearance of epileptic seizures. Epileptic activity of the brain is manifested by a variety of types of seizures: both partial and generalized. The same child can have different seizures. In Rett syndrome, antiepileptic drugs are ineffective in preventing seizures. A characteristic feature of the disease is a gradual decrease in the frequency of attacks as it progresses;
sleep disturbance;
breathing rhythm disorder: from episodes of stopping to sudden acceleration. Respiratory disorders accompany only the period of wakefulness and do not develop during sleep. If the duration of periods of respiratory arrest exceeds 1-2 minutes, then blueness of the face, peripheral parts of the extremities and the development of fainting are possible due to insufficient oxygen supply to the brain;
impaired coordination of movements.

The rate of development of the above described symptoms may vary. Sometimes, within a few weeks, all skills are completely lost, seizures and other disorders appear. Such a rapid course of the disease can cause an incorrect diagnosis - encephalitis (especially if this is also accompanied by infectious symptoms). In other cases, symptoms appear slowly, one after another, over several months. A fairly long period of time may pass between the appearance of individual symptoms.

Following the stage of regression comes the third stage: the stage of relative stability. This period can last from 3 to 10 years. It is characterized by:

some improvement in the emotional background, establishing contact with others;
normalization of sleep (or its improvement compared to the second period);
disappearance of periods of causeless anxiety;
progression of mental retardation. Compared to their peers who continue to actively develop, girls with Rett syndrome look deeply retarded, because their mental and motor development has stopped at the level of a 6-month-old child, or at most a one-year-old;
persistence of epileptic seizures;
progression of movement disorders. In addition to stereotypical movements in the arms, uncoordinated and involuntary movements may appear in the legs, torso, neck, and eye muscles. Trembling and swaying from side to side appears;
maintaining low muscle tone.

After 10 years of age, the fourth phase begins: the disease progression phase. In addition to disorders of the nervous system, problems with other organs also occur. The fourth phase lasts until the end of the sick person’s life. It is characterized by the following features:

an increase in muscle tone in individual limbs, as a result of which contractures are formed and the muscles gradually atrophy. In severe cases, complete immobility occurs;
the appearance of secondary osteoarticular disorders (scoliotic deformity of the spinal column and others);
growth disturbance, while the rate of puberty remains normal;
impaired blood supply to the lower extremities;
weight loss up to cachexia;
seizures become less frequent, and emotional contact with others is maintained.

There is no clear boundary between the stages described above. The course of the disease is highly variable. Both lightning-fast cases and slower ones are possible.

Stages of development of the syndrome

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

Stage No. 1. Initial deviations in child development are noted between the ages of four months and approximately two years. Patients experience delayed head growth, muscle weakness, lethargy and lack of interest in the entire world around them.
Stage No. 2. If a baby learns to walk or pronounce some words before the age of one year, all these skills usually disappear between one and two years of age. At this stage, characteristic hand manipulations, breathing problems, and disruption of normal coordination appear. Some children experience epileptic seizures. Symptomatic treatment of Rett syndrome at this stage remains ineffective.
Stage No. 3. The period from three to nine years is characterized by stability. 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 development of the disease, irreversible disturbances in the functioning of the autonomic system and spine are usually observed. By the age of ten, patients may experience a decrease in the frequency of seizures, but the ability to move independently may completely disappear. Children can remain in this state for decades. Despite significant deviations in physical development, patients experience full puberty.

All of the above symptoms make it possible to determine at what stage Rett syndrome is located. Signs of the disease may vary depending on the rate of progression of the disease and some individual characteristics of the body.

Treatment

There are no medications specifically designed to treat Rett syndrome. Drugs that can be considered as symptomatic therapy:

Antiepileptics - for the relief of convulsive seizures.
Sedatives, both herbal and chemical based.
Drugs against gastroesophageal reflux.
Levocarnitine to improve the patient's physical and mental condition.

Basic therapeutic measures aimed at supporting the child and improving his quality of life:

regular medical examinations;
symptomatic drug therapy;

Drug treatment of the disease

physiotherapy;
occupational therapy;
language and speech therapy;
balanced diet;
behavioral intervention;
educational games;

Alternative treatments:

art therapy;
animal-assisted therapy;
music therapy;
hydrotherapy.

There is no evidence that alternative approaches are effective. However, many parents who have resorted to them note their positive impact on the psycho-emotional state of the child.

Although there is no cure for Rett syndrome, there are treatments available that can improve the symptoms and quality of life of such patients. Procedures must be followed throughout life. Therefore, a team approach is needed in the treatment of this disease.

How to recognize pathology?

Diagnosis of the disease is determined by the observed clinical picture. If this disease is suspected, children are usually sent for 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 make it possible to differentiate these two completely different pathologies.

In the first few months of life, autistic children already experience characteristic signs of the disease, which cannot be said about Rett syndrome. With autistic disorder, children often resort to various manipulations with objects around them and have a peculiar gracefulness. Rett syndrome in children most often manifests itself as stiffness in movement due to motor and muscle disorders. Moreover, it is accompanied by prolonged epileptic seizures, slowed head growth and breathing difficulties. Thus, timely differential diagnosis allows one to accurately determine the underlying form of the disease, as well as prescribe appropriate treatment and rehabilitation measures.

How to detect and confirm the diagnosis?

If you suspect Rett's disease, you should consult a psychotherapist. Based on a survey about the parents’ observations, the course of pregnancy and complaints, as well as after examining the child, he can confirm or refute such guesses. In any case, the diagnosis requires additional confirmation. For this purpose, the patient is referred for examination in the following areas:

Computed tomography of the brain. Shows attenuation of CNS activity by assessing changes.
Electroencephalogram. Notes the bioelectrical activity of the brain. The nature of the indications may directly indicate the presence of Rett gene pathology.
Genetic blood test to confirm the breakdown of the X chromosome.
Ultrasound of all internal organs. To identify complications of the syndrome.

The child undergoes a comprehensive diagnosis of the condition with the involvement of most specialized specialists in order to understand what pathologies have developed as a result of the syndrome.

During the period of planning conception, the mother can do a genetic karyotype analysis to exclude carriage of this mutation. However, subsequent chromosome breakage is difficult to predict. Analysis of amniotic fluid, blood from the umbilical cord or a piece of the placenta is not done, since this pathology is not diagnosed during pregnancy, the fetus develops normally. Except in cases with boys, then anomalies appear already during the prenatal period.

How is it different from autism?

Rett disease is sometimes confused with autism. Only a specialist can distinguish between these conditions. In 1988, a differential diagnostic method was developed to make an accurate diagnosis.

A number of external and behavioral differences can be noted:

Special hand movements with the syndrome are limited by their position. As a rule, they are bent at the elbows, the hands are slightly raised, and are located at the chest. In autism, movements are more varied and not concentrated in one place.
Children with Rett disease up to 1.5–2 years of age are able to communicate and react to the outside world, while autistic children already experience problems at this age.
With the syndrome, the ability to walk is seriously impaired, while with autism it is only a certain characteristic of the gait.
The strength and frequency of seizures is higher in Rett pathology.
In autism, there is no bruxism, growth inhibition, or respiratory system disorders.

Mom's opinion! Many parents of children with Rett syndrome deny their autism. They note reactions to people, objects, events and some understanding of speech.

Drug therapy

Modern methods of treating the disease are unfortunately limited. The key direction of therapy is to mitigate the symptomatic manifestations of the pathology and alleviate the condition of young patients with the help of medications. What medications are prescribed to children diagnosed with Rett syndrome? Treatment usually includes:

Taking anticonvulsants to block epileptic seizures.
The use of Melatonin to regulate the biological day/night regime.
Using medications to improve blood circulation and stimulate brain function.

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 has appeared relatively recently in pharmacology. It prevents monosodium salt from entering the central nervous system. Scientists have found elevated levels of this substance in the cerebrospinal fluid of patients diagnosed with Rett syndrome. The reasons for this phenomenon still remain unknown.

Treatment of the disease

Specific treatment for the syndrome has not yet been developed.

There is encouraging data from some laboratory studies, during which it was possible to “turn on” a broken gene in mice and achieve the disappearance of signs of the disease. Only symptomatic methods of therapy are now available to practical medicine.

Medicines

To alleviate the child’s condition and alleviate symptoms, the attending physician may prescribe drugs from the following groups:

nootropic drugs for normalizing cerebral circulation: Piracetam, Cerebrolysin, Actovegin, Phenotropil, Ceraxon;
anticonvulsants to reduce the frequency and severity of convulsive attacks: Phenobarbital, Carbamazepine, Lamotrigine, Valparine;
for the correction of sleep disorders: Trazodone, Melatonin, Clonidine, Zolpidem;
psychotropic drugs: Phenibut, Glycine, Noofen;
dopamine agonists for the correction of motor disorders: Levodopa, Bromocriptine, Tolcapone, Piribedil, Perlodel.

In addition, according to indications, medications are prescribed to support the functioning of internal organs: heart, liver, pancreas. In some cases, taking antiepileptic drugs is ineffective, which greatly complicates the treatment of the syndrome.

Traditional therapy

In addition to drug treatment, doctors recommend a special diet. It is formulated 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 helps to stabilize the condition of patients.

Treatment also involves massage and special gymnastics. 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.

Experts note that music has a beneficial effect on children with this disease. 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, little patients are adapted to the world around them, and special developmental classes are conducted for them.

Treatment methods

Rett syndrome in girls or boys is a disease that has no cure. With the help of medication or herbal therapy, the child’s well-being can be alleviated. Symptomatic treatment of the disease at home or in a rehabilitation center is allowed.

Medications

Medicines alleviate the general condition of a person with Rett syndrome. The table shows the medications prescribed for the disease.

Group of medicines	Effect of use	List of funds
Antiepileptics	The drugs reduce epilepsy attacks.	Carbamazepine, Konvulex, Depakin chrono
Adaptogenic	Medicines normalize the sleep-wake cycle. Additionally, when taking this group, sleep improves, falling asleep speeds up, and the number of awakenings at night decreases.	Melaxen, Melatonin
Nootropic	The drugs improve blood circulation and overall brain activity. Additionally, this group of products has a positive effect on memory and learning.	Piracetam, Nootropil, Semax

Nootropil is a medicine for memory and attention.
Piracetam is a complete analogue that can be bought without a prescription. Additionally, medications can be prescribed for the treatment of diseases of internal organs (heart, kidneys, liver). For example, if Rett syndrome influenced the development of pathology.

Medicines must be prescribed by a specialist. Medicines have age restrictions, side effects, and contraindications. The doctor takes into account the information specified in the instructions for use of the drug and makes a decision on prescribing the drug.

Traditional methods

Herbal recipes can be used for the symptomatic treatment of Rett syndrome.

Popular folk remedies:

Pollen. The recipe helps the child increase body weight. To prepare, you need to take 500 g of pollen and 2 cans of condensed milk, mix well, put in the refrigerator for 14 days. Then use 1 tsp. 3 – 5 days. The product should be used on an empty stomach, immediately after waking up.
Bay leaf. The product helps eliminate leg cramps. To prepare the recipe, you need to take 50 g of dry leaves of the plant and pour in 1 glass of unrefined sunflower or corn oil. Place the solution in a container and close the lid, leave in a cool place for 14 days. Filter through cheesecloth and rub onto extremities.
Aloe. The recipe helps strengthen the immune system. To prepare, take 100 g of aloe juice, 500 g of chopped walnuts, juice of 3 lemons. Stir and take 30 minutes before. before meals 1 tsp. 3 times a day.

Other methods

Rett syndrome in girls and boys is a disease whose therapy consists not only of the use of medications and folk remedies. It is permissible to use the methods specified in the table.

Name	Description
Proper nutrition	For Rett syndrome, it is recommended to adhere to the following principles: eat small meals - up to 6 times a day every 3 - 4 hours; do not exceed the serving size of 300 g; exclude salty, fried, fatty foods; reduce the amount of sweets and flour; Replace high-fat foods with low-calorie ones; Vegetable soups and cereals should predominate in the diet; I cook using boiled or steam method, bake in the oven; Don’t forget to drink clean, still water.
Physiotherapy	A type of therapy involves the influence of artificial or natural factors on the body. Physiotherapy can help improve the well-being of a child with Rett syndrome. Therapy methods: electrophoresis - exposure to electrical impulses; laser therapy – laser radiation; magnetic therapy - the effect of a magnetic field on the affected organ; ultraviolet - ultraviolet radiation; UHF therapy – involves exposure to a high-frequency electromagnetic field; massage – impact on soft tissues with the hands of a massage therapist; cryotherapy - exposure to liquid nitrogen; acupuncture; mud therapy.
Exercise therapy	Physical therapy can correct the development of scoliosis in Rett syndrome. A list of exercises is given by a specialist based on the stage of the disease.
Consultation with a defectologist	The specialist works with children who have developmental disabilities. A defectologist corrects problems with mental impairment, hearing, and vision. Additionally, the specialist deals with speech problems. Accordingly, the help of a speech pathologist is necessary for children with the following disorders: deafness; poor hearing; weakened vision or its complete absence; mental retardation; impaired motor function.

Forecasts

To prescribe the necessary treatment, scientists from all over the world continue to actively study Rett syndrome. The forecast 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 explained what Rett syndrome is. Photos of children with this disease can be viewed in specialized medical reference books. This is a very rare disease that is mainly diagnosed in girls. Compared to 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 completely defeated. 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 the topic presented in this article will actually be useful to you. Be healthy!

What does the science say about treating Rett's disease?

A special Association has been created for the study, development of rehabilitation and therapy for this syndrome. At the moment, there are studies that confirm the possibility of restoring brain function with the help of stem cells and the hormone insulin. So far, the methods have been tested only on laboratory rats and are at the testing stage. However, there is hope, as experiments prove this possibility. The Russian Association works together with other world experts. It is likely that in the near future there will be a way to completely cure a child with such a diagnosis.

Trials of the drug Copaxone

A clinical trial of Copaxone in girls with Rett's disease is planned in the USA and Israel. To do this, 10 patients will be given injections over a period of six months with a gradual increase in dosage. It is expected that the effect of the drug will return normal motor functions, restore the autonomic nervous system, allow the child to learn and remember, and eliminate hand-wringing and gastrointestinal problems.

Deep brain stimulation

This method has already been proven effective in treating Alzheimer's disease, Parkinson's disease, depression, and Tourette's syndrome. Currently, trials are being carried out on mice with Rett pathology, with future participation in humans planned.

Attention! There are many other studies being conducted regarding the treatment of the syndrome.