What is Rett syndrome, life expectancy with it. Rett syndrome: what is it Cases of recovery from Rett syndrome

Rett syndrome (RS) is a type of progressive degenerative disease that affects the nervous system and stops a person's development at an early age. The pathology begins to manifest itself after six months of life in children and is expressed in autistic behavior and regression of motor skills. Diagnosis is based on characteristic external signs and on indicators provided by analysis of brain activity. Treatment for Rett syndrome is very limited and the prognosis is uncertain.

Statistics

Rett syndrome is essentially a genetic pathology that is believed to be hereditary. To more accurately investigate the causes, a territorial analysis of the distribution of the syndrome was carried out, which revealed a special frequency of cases of Rett pathology in children from one small locality. Such “foci” were noted in Hungary, Norway and Italy.

The statistics of the syndrome are quite high. For every 10-15 thousand children, one female child is born with the described Rett pathology. In the mid-twentieth century, the Austrian scientist, after whom the syndrome is named, analyzed and symptomatically treated more than 30 cases. All patients were girls. In boys, Rett syndrome is incompatible with life and is extremely rare.

Reasons for appearance

Although a hereditary predisposition to the disease has already been confirmed, the question of the very nature of Rett's pathology remains open. The syndrome is caused by mutations in genes associated with the fragile X chromosome. As a result of this pathogenesis, morphological changes in the brain occur, which stops its growth in the fourth year of a child’s life.

“Interrupted development” of the brain, in turn, leads to autonomic disorders and problems of the musculoskeletal system. Muscles atrophy, epileptic seizures appear, the development of internal organs and body growth slows down.

Symptoms

The first signs of illness

During the first months, the child looks absolutely healthy, and doctors, as a rule, do not have any suspicions. The baby's weight is normal. Head circumference is also within healthy limits. The only thing that can be observed in the first six months is muscle flaccidity and symptoms of hypotension:

• low body temperature;
• severe sweating of palms and feet;
• pale skin.

Closer to 4-5 months, symptoms of a delay in the development of motor skills, such as crawling or turning over, become noticeable. In the future, such children have difficulty sitting or standing on their legs.

Characteristic signs

Children with Rett syndrome experience the following symptoms:

• slower growth overall;
• disproportionately small limbs and head;
• speech problems;
• delayed mental and motor development;
• walking with unbending knees;
• scoliosis;
• convulsions.

Almost all children with Rett syndrome have pronounced breathing problems:

• frequent apnea (sudden stoppage of breathing);
• aerophagia (swallowing air and resulting regurgitation);
• hyperventilation (rapid shallow breathing).

Very striking symptoms of Rett syndrome are characteristic, repetitive movements. Manipulations with the hands are especially common: for example, a movement reminiscent of washing hands or rubbing a bruised area on the body. The child may frequently bite their clenched fists and drool.

Signs at different stages of the disease

As it progresses, Rett syndrome in children goes through 4 conventional stages. They are marked by the peculiarities of the clinical picture.

Stage No. 1. The first developmental deviations in children appear between the ages of 4 months and 1.5-2 years. In patients, the growth of the head and limbs slows down, muscle weakness, permanent lethargy and a complete lack of interest in fun or games are noticeable.

Stage No. 2. If a child has learned to walk and pronounce individual words before one year of age, these skills disappear between one and two years of age (they may partially recover over time). Characteristic repetitive hand manipulations, poor coordination, and breathing abnormalities appear. At this stage, there may already be convulsions and seizures of an epileptic nature, the symptomatic treatment of which is practically ineffective.

Stage No. 3. The period from 3 to 9 years is relatively stable. This stage of Rett syndrome is characterized by profound mental retardation, periodic epileptic seizures and extrapyramidal disorders, when small twitching of the body is abruptly replaced by “stupor” and is accompanied by a “stopped” gaze.

Stage No. 4. At this stage, irreversible changes occur in the autonomic system, spine and joints. By the age of 10, sick children may decrease the frequency of convulsions and seizures, but completely lose the ability to move independently and develop cachexia (rapid weight loss), the causes of which lie in pathologies of the internal organs.

Diagnostic methods

Diagnosis of Rett syndrome is based on the observed clinical picture. When the first suspicions arise, in order to confirm the diagnosis and prescribe adequate treatment, children are referred for hardware examination:

1. The brain is analyzed using computed tomography. CT scans reveal neuromorphological changes that indicate a stop in brain development.
2. The bioelectrical activity of the brain is measured using an electroencephalogram (EEG). The presence of X chromosome mutations is indicated by a slow background rhythm.
3. In Rett syndrome, analysis of ultrasound results may indicate pathological underdevelopment of some internal organs, for example, the liver.

Rett syndrome, in its early stages, is sometimes compared to autism. In both cases, children are characterized by mental retardation and “loss of connection” with the outside world. However, there are a number of differences that make it possible to identify two completely different diseases.

Differential medical diagnostic data:

Drug treatment

Current treatments for Rett syndrome are very limited. The main direction of therapy is the suppression of symptomatic manifestations of pathologies and alleviation of the patient’s general condition with medications:

• anticonvulsants, whose action is intended to block epilepsy attacks;
• melatonin, which belongs to the group of sleeping pills and regulates the biological regime of day and night;
• various drugs that improve blood circulation and stimulate brain function.

In some cases, if epileptic seizures recur too frequently, the effectiveness of anticonvulsants may be very low. Doctors usually prescribe carbamazepine for children with Rett syndrome. This drug is a strong anticonvulsant.

In parallel, treatment of Rett's disease with lamotrigine may be prescribed. This drug appeared in pharmacology relatively recently. Its action is aimed at preventing the monosodium salt, known as glutamine, from entering the central nervous system. Scientists have discovered an increased concentration of this substance in the cerebrospinal fluid (CSF) of patients with the syndrome. Some doctors believe that this genetic pathology provokes frequent epileptic seizures, although an accurate diagnosis of the root causes is difficult.

Traditional therapy

Doctors often recommend a diet rich in vitamins, fiber and high-calorie foods. This is done to ensure that the child with CP gains weight. This requires frequent feeding, every three hours. Such nutrition can slightly stabilize the condition of patients with Rett syndrome.

The therapeutic treatment program necessarily includes massage and gymnastics. Physical activity sessions develop the child’s limbs, increase body flexibility and stimulate muscle tone.

Children with Rett's disease have been shown to benefit from music. It calms the sick and stimulates interest in the world.

There are special programs and treatment in rehabilitation centers where children with Rett syndrome are adapted to the world around them.

Forecasts

To find adequate treatment, doctors and scientists around the world are conducting intensive research into a childhood disorder called Rett syndrome. Data and results from research centers dealing with this problem already confirm the version that the processes triggered by pathology are reversible.

Active development of a strategy for the use of stem cells is underway, on which the treatment of Rett syndrome will be based. Already today, preliminary means have been tested on laboratory mice. Professor Belichenko's experiments, which were carried out at the University of California, give a positive prognosis and hope for the early scientific discovery of an effective treatment for Rett syndrome.

Rett syndrome is a congenital brain pathology characterized by defective mental development with intellectual impairment and leading to social maladjustment. This neuropsychiatric genetic disease is caused by gene mutation. It is manifested by progressive mental retardation mainly in girls, muscle hypotonicity, unsteadiness of gait, scoliosis, constipation, loss of acquired skills, respiratory disorders, paresis and paralysis. The mechanism of inheritance of Rett syndrome is dominant, linked to the X chromosome. The syndrome is extremely rare in boys. For them it is incompatible with life.

The syndrome was discovered in 1954 by the psychoneurologist from Austria A. Rett, thanks to whom it got its name. It was identified as a separate nosology much later: about 10 years later. The causes and pathogenesis of the pathology currently remain unknown. Scientists believe that spontaneous mutation of X chromosome genes is the source of this problem.

During the first year of life, the sick child develops normally. Closer to one and a half years, girls with Rett syndrome begin to lose acquired speech, motor and subject-role skills. Their movements become stereotypical, monotonous and inhibited, losing their purposeful character. They wring their hands, clench their fingers, rub their hands. Sick children communicate with great difficulty: they often become self-absorbed, withdrawn, then scream sharply and cry for no reason. The unnatural laughter quickly gives way to a wild squeal. Children with Rett syndrome are learning disabled. They cannot even move independently.

External signs of pathology are small arms and legs, slow growth of the head, signs of microcephaly. The disease progresses steadily and leads to severe mental retardation, loss of self-care skills and immobility. Patients with Rett syndrome are prone to gastrointestinal disorders and seizures.

children with Rett syndrome

Diagnosis of the disease consists of a neurological examination, MRI of the brain, EEG and molecular genetic research. Rett syndrome is incurable. Patients are prescribed symptomatic therapy, the purpose of which is to reduce the severity of individual manifestations of the disease and alleviate the general condition of the patient.

Causes

The etiopathogenetic features of Rett syndrome are quite complex. They are caused by the interaction of various genes and their influence on the brain. The root cause of the pathology is a spontaneous mutation of the X chromosome gene, leading to the cessation of its expression. This gene encodes a specific protein that regulates the transcription of certain sections of DNA. In Rett syndrome, gene inhibition is disrupted, which leads to abnormal formation of nerve tissue. Another theory of the origin of the pathology is the fragility of one of the sections of the short arm of the X chromosome.

In patients, the ultrastructure of nerve cells is disrupted: they decrease in volume, the number of dendrites changes. Brain cells are not destroyed, but begin to develop incorrectly. The hindered formation of nerve tissue is in no way related to the process of neuron destruction. Scientists note that with Rett syndrome, the size of the brain is reduced by 20% compared to the age norm. In patients, inhibition processes in the brain predominate. This is reflected in the physiology of the central nervous system, its morphological structure and is manifested by a characteristic clinical picture.

If this gene is completely absent from the genome, the fetus dies in utero. The fatal condition is mainly characteristic of boys. A female fetus has two chromosomes: one normal and the other defective. This allows him to survive until birth. Men have only one X chromosome. If she carries a defective gene, then the fetus does not have a normal copy of the gene, and it most often dies. In atypical cases, Rett syndrome develops in boys and is accompanied by a less clear clinical picture.

Currently, most scientists are inclined towards the hereditary theory. However, debates regarding the etiopathogenetic factors of the disease in the scientific world are still ongoing.

A lesser known theory of the development of pathology is metabolic. Its meaning is that the disease occurs as a result of metabolic disorders caused by mitochondrial dysfunction.

Currently, none of these theories have been proven by scientists. They have not yet been able to establish a certain pattern that allows them to assert a 100% relationship between cause and effect.

Factors contributing to the development of pathology:

• Inadequate pregnancy management
• The expectant mother's addiction to bad habits,
• The presence of a large number of blood ties in a person’s pedigree.

Symptoms

The first clinical signs of pathology appear at the end of the first year of life. Until one year of age, a child with Rett syndrome grows and develops at a normal rate.

The first signs of the disease:

1. Hypothermia,
2. Hyperhidrosis,
3. Pale skin
4. Difficulty turning over from stomach to back,
5. Problems with crawling and sitting.

Sick children lag behind their peers in growth, have disproportionate arms and legs in relation to the body, begin to walk late, often burp, breathe quickly and shallowly, suffer from episodes of sudden respiratory arrest and convulsive seizures, and have delayed motor skills and speech.

Sick children develop specific hand movements, the skills of holding objects disappear, monotonous movements appear - fingering or clapping at chest level, clenching fists, intertwining fingers, bringing hands to the face, putting them in the mouth, biting hands or hitting different parts of the body with them. . Hand movements do not completely disappear, they become unusual. Mental development is characterized by mental retardation and lack of cognitive activity, rapid loss of acquired skills. Patients develop microcephaly, convulsive seizures, and scoliosis due to dystonia of the back muscles. The disproportion of the head in relation to the rest of the body becomes very noticeable as the child approaches the age of one year.

Sick children are antisocial. They do not respond to any external stimuli and their behavior is similar to those with autism. Hyperexcitability, paroxysmal crying, absolute helplessness are characteristic signs of pathology. Children with Rett syndrome may sway from side to side for a long time and shift from foot to foot. Some people have a high pain threshold. They show aggression towards themselves and others: they hit loved ones and themselves, bite their nails, and scratch themselves.

By the age of four, brain growth in sick children stops completely. This leads to dysfunction of the autonomic nervous system. The child’s skeletal growth slows down, muscles atrophy, and internal organs stop working normally.

Seizures, insomnia and dementia with age are replaced by parkinsonism, persistent disorders of the heart and blood vessels, and hair loss. Patients often experience facial dysmorphism, which gives them a distinctive appearance. Women with Rett syndrome are fertile, meaning they are capable of conceiving a child.

The progression of the disease is characterized by a certain stage:

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

Diagnostics

Diagnosis of pathology is based on the patient’s life history and neurological status, the results of nuclear magnetic resonance and electroencephalography, as well as molecular genetic analysis.

Characteristic signs of Rett syndrome that allow one to suspect this disease:

1. normal development of a child up to 6-12 months,
2. muscle hypotension,
3. causeless anxiety in early childhood,
4. ataxia,
5. frequent seizures,
6. loss of acquired skills,
7. mental retardation in later life,
8. amyotrophy,
9. scoliosis,
10. convulsions.

Specialists measure the child's head circumference and interview parents in detail. A visual examination makes it possible to detect that the patient is lagging in height compared to his peers, a decrease in head circumference, and lack of speech.

Instrumental diagnostics:

• The results of MRI of the brain are the small size of the organ, smoothness of the cerebral convolutions, the absence of a clear boundary between the gray and white matter.
• Encephalography data indicate a decrease in background brain activity and a sharp weakening of the reaction to external stimuli.
• Medical genetic analysis provides accurate diagnostic information by detecting X chromosome gene mutations. Molecular karyotyping allows you to detect abnormalities in the gene associated with the development of the disease.
• Ultrasound of internal organs is an auxiliary method that allows you to establish this pathology. Sick children usually have underdeveloped kidneys, heart, and liver.
• X-ray of the feet and hands - shortening of the ulna, fourth metatarsal and metacarpal bones.

Treatment

Rett syndrome is a genetic disease that is absolutely not treatable. Modern medicine is powerless against genetics. Symptomatic treatment, which makes life easier for patients, is also associated with a number of difficulties. Rett syndrome is currently treated in specialized rehabilitation centers, which are available in almost all major cities of our country. Center specialists conduct developmental classes, adapting young patients to the world around them.

Drug therapy softens the symptomatic manifestations of the pathology and alleviates the general condition. Patients are prescribed:

1. Nootropic drugs that improve cerebral microcirculation and stimulate organ function - “Piracetam”, “Vinpocetine”, “Cinnorizine”, “Mexidol”, but no significant effect from their use was noted,
2. Sleeping pills based on melatonin - Melaxen, Circadin, Trazodone,
3. Anticonvulsants that block epileptic seizures - Carbamazepine, Valparin,
4. Dopamine receptor stimulants - Bromocriptine, Tolcapone, Levodopa,
5. Psychotropic drugs – “Phenibut”, “Glycine”, “Noofen”,
6. Drugs for the treatment of diseases of the heart, liver, spleen.

Therapeutic diet is indicated to prevent exhaustion of patients. They are recommended to eat frequent and small meals, eat foods high in fat, fiber and vitamins. The diet is designed individually for each patient to gain weight.

Physiotherapeutic procedures, therapeutic massage, exercise therapy are mandatory components of a complex treatment process. Such activities contribute to the development of the child’s limbs, increase their flexibility, and stimulate muscle tone. Massage and gymnastics keep the musculoskeletal system in good condition and resist further degradation.

Music treatment is actively used for Rett syndrome. This therapy has a beneficial effect on the body, calms and stimulates interest in the world around us. Working with a speech pathologist, psychologist, or osteopath helps the child improve communication skills and motor skills. Osteopathy has a positive effect on the condition of the spine. Manual therapy is usually combined with other rehabilitation methods. Classes with specially trained animals, hydrorehabilitation, and art therapy have a good effect.

Genetic and pharmacological studies of various groups of drugs for the treatment of Rett syndrome are currently being conducted.

Forecasts

The prognosis of Rett syndrome is ambiguous. The disease steadily leads to severe mental retardation and a number of motor and neurological disorders. The life expectancy of patients with this pathology with appropriate care and symptomatic treatment in rare cases is 40-50 years. But most often patients die in early childhood. The main cause of death is respiratory or multiple organ failure.

Currently, scientists are developing special stem cells that will help overcome this terrible disease. Their implantation into the body will successfully resist the progression of the disease. Modern scientists have experimentally proven that Rett syndrome and its symptoms are completely reversible. If the functions of the gene are restored, the neurological disorders that this mutation provokes can be eliminated. These studies give parents and doctors great hope of restoring most of the lost functions.

Since Rett syndrome is a genetic disease, it is impossible to prevent its development. Prevention of pathology involves ultrasound screening of all pregnant women. Married couples with a history of chromosomal disorders receive advice from a geneticist for preventive purposes. Genetic tests during pregnancy make it possible to identify abnormalities and make a decision on the advisability of terminating the pregnancy.

It is believed that violations of a person’s genotype are provoked by negative factors - difficult environmental conditions and bad habits. Experts give general recommendations to their patients: lead a healthy lifestyle, eat right, exercise and monitor your well-being. Women during pregnancy also need to monitor the adequate course of gestation and regularly visit an obstetrician-gynecologist.

Rett syndrome is a rare disease that is predominantly diagnosed in girls. It is impossible to defeat him completely. Modern medicine offers various medications to reduce the symptoms of the disease. Parents should not despair, but should remember that a sick child needs careful treatment, love and support. By following the entire range of medical recommendations, you can significantly alleviate the baby’s condition and improve his life.

Video: examples of children with Rett syndrome

(PHOTO) When the cry of a newborn baby was heard in the maternity ward and she was told: “Congratulations, daughter!”, Katya felt like the happiest person in the world...

But in the second year of life, the baby was diagnosed with a rare genetic disease - Rett syndrome. So rare that the doctor voicing the diagnosis knew about it only theoretically.

Personal involvement prompted Katerina to create and lead a charitable foundation to help children with Rett syndrome. It was believed that the disease was incurable, but the latest research allows us to look into the future with optimism...

BOY OR GIRL?

At 24, my world collapsed. I feel this quite definitely, since everything that happened before is now remembered as someone else’s life, accidentally spied on...

Stable parenting with an understanding of what is good and what is bad. The desire to live up to the good, because this is the key to a happy future.

I've taken my own life seriously since I was a child. By the turning point in my life, I already had my own family - a husband and daughter.

We met my future husband while on vacation in Egypt. A year later, Andrey and I got married. And soon I found out that I was pregnant. We both wanted and were waiting for this child with joy. Apart from the usual toxicosis in the first months, the pregnancy was easy. There is nothing alarming in the analyses. For some reason I thought it would be a boy, although the doctors could not determine the sex of the child on an ultrasound. At the very end of the term they said that it looked like it was a girl.

CAROLINE

The daughter was born at 5 pm on April 21. Choosing a name was not easy. I tried different names and none seemed right. Suddenly I remembered an old dream. There was a girl in it with me, and I called her some unusual beautiful name... Caroline!

Some sources interpret this name as “royal”. But on one of their trips abroad we were given a detailed description of the origin and interpretation of the name, and there it means “strong.” Our Carolina, of course, needs power much more than a crown.

You experience amazing emotions watching children explore the world. How funny they are surprised at their own small achievements. How they begin to learn and understand the purpose of things.

I remember the first time I saw a meaningful reaction to my own request, heard the repetition of the simple words I said. I remember the joy of the first steps and the tears of the first failures. I remember the feeling of inner pride that you experience when your child does something before others.

At 11 months old, we were hospitalized with a severe form of ARVI. My daughter had a fever for a long time and was given one antibiotic after another. I watched her carefully, and I had bad feelings. But everything seemed to go fine, we were discharged, the baby got stronger, and suddenly something strange began.

When getting dressed for bed in the evening, we always started a game: “What does a cat do?” - “Meow!” - “What does the dog do? And the cow? And then I noticed that Caroline answers every once in a while, as if she were forgetting simple and long-familiar words. Silent or just laughing.

And some other familiar things, which seem to have become firmly established in the lexicon, are heard less and less often. When I shared my concerns with the pediatrician, they reassured me: “Is she already starting to walk? I just switched from speaking to something else!”

DIAGNOSIS IN QUESTION

Every year and three years there is a scheduled examination by a neurologist. We never had problems going to the doctors. But this time the doctor expressed dissatisfaction with the pace of the child’s development.

Carolina was reluctant to make contact; once she did not even respond to her name. We were advised to have our hearing checked. The seriousness of the situation had not yet even emerged, but internal sensations sounded the alarm.

I tried to calm myself down, but a visit to another specialist did not bring any relief. Lore assured that everything was fine with hearing, but, lowering her voice, she added: “Perhaps the problem is not with hearing, but with understanding...” For me it was a shock.

From that moment on, concern for my daughter did not leave me. It began to seem to me that I was doing something wrong, that I was missing some thread of connection with the child. Despite the fact that a lot of time and effort was devoted to various developmental activities, the results seemed to stand still. It even happened that, while acquiring a new skill, the daughter forgot one of the previous ones. In addition to everything, I woke up at night with tears and minor cramps.

Several months of hope that the changes that are literally happening to the child before our eyes are a temporary phenomenon, visits to doctors that have become endless, the search for a solution to the problem using unconventional methods with a huge amount of deception and siphoned off money - all this cannot be expressed in words.

Many diseases in this area have similar symptoms and manifestations, so it is very difficult to make a diagnosis

In the end, Caroline and I underwent a week-long examination in the hospital, in the neurology department. Many diseases in this area have similar symptoms and manifestations, so it is very difficult to make a diagnosis.

This detail played a decisive role. Caroline stopped picking up objects. You give it to her, and she immediately throws it away. This clue clarified the picture for the doctor, and a preliminary diagnosis was announced: Rett syndrome.

The syndrome is named after the Austrian professor Andreas Rett, who first described it. This is a neurological disease caused by a pathology of a gene on the X chromosome. That is, in the women's room, only girls can get sick. The disease is very rare, serious and, worst of all, incurable...

Now I am grateful to that doctor. She remembered the symptoms of a rare disease that she knew about from books. But then! At the moment when terrible words are spoken to your child, you experience a strong feeling of hostility towards the doctor.

It seems like this is all just a cruel joke. Hearing the prediction that my daughter would eventually stop walking and talking altogether, I refused to believe it. And how could one believe, after the doctor’s confession, that this was the first case in his practice?

IN SEARCH OF A MIRACLE

We learned that it is possible to do a complex genetic test to clarify the diagnosis. No laboratory in Kyiv has done it. We took the test in Moscow, although we were warned that only one part of the gene was tested and it was impossible to talk about 100% accuracy. We had to wait several months for the result.

During this time, we managed to go for a consultation at the Institute of Genetics in Kharkov. Special thanks to Professor Elena Yakovlevna Grechanina, whose daughter is still being monitored. Kharkov doctors agreed with the preliminary diagnosis. But in Moscow it was not confirmed.

There are no effective drugs for Rett syndrome yet, there is only supportive therapy

To dot the “I”s, we decided to reach out to foreign geneticists. Friends in Germany, at our request, contacted the clinic, made an agreement, and the whole family went there for a few days. The analysis cost about a thousand euros and took six months to process. But they reassured us verbally: German doctors saw no reason to diagnose Rett syndrome.

An agonizing period of waiting began. Every day you wake up with the thought: is there a diagnosis or not? It was painful to be in limbo. On May 29, the day of the third wedding anniversary, a call came from Germany: Rett syndrome was confirmed... And although this could not be called good news, the accurate diagnosis was still a relief and put an end to the uncertainty.

There are no effective drugs for Rett syndrome yet; there is only supportive therapy. The only thing that can be done for the child is to maintain good health and adapt socially as best as possible.

Since the diagnosis, I have subordinated my life to the interests of Karolinka. We visited specialized kindergartens for children with special needs, and worked with psychologists and speech therapists. Massages, exercises, vitamins, amino acids. In search of a miracle, we even went to a children’s camp in Cuba for four months under the Chernobyl program.

Many different studies were carried out, after one of which - carried out under general anesthesia - three-year-old Carolina stopped walking. No miracle happened...

ENGLISH WITH DICTIONARY

However, we were not going to give up. We searched wherever possible for information about Rett syndrome. Everything is far from being as hopeless as we were told. Functionally, the child’s body is healthy, but due to a malfunction in an unhealthy gene, at some point the brain begins to develop incorrectly. This gene can and should start a chain reaction in other genes. If you find a way to cure the weak link, the integrity of the relay will be restored.

The difficulty is that research has not been conducted at the state level anywhere in the world. It is considered inappropriate to invest in projects on a problem that is not widespread.

But friend the Internet brought good news: there are enthusiasts, individual scientists, studying the mysterious syndrome on a private initiative. We learned about the discovery of Adrian Bird, a professor at a Scottish university, who showed in a mouse model that the syndrome, despite the severity of the symptoms, can be completely reversible. Mature animals with the last stage of the disease were selected for the experiment. Their normal functions were restored and they became indistinguishable from healthy ones!

The work of Bird and his team has taken Rett syndrome to a new stage of perception. Since reversal of symptoms is possible, then we will be optimistic about the future! We began to look for an opportunity to contact the professor. An email correspondence began. My English was far from perfect, and every evening, after putting Caroline to bed, I covered myself with dictionaries and translated: our letters, the answers to them.

After talking with the professor, we learned that his discovery is only a small part of the enormous work in which scientists from around the world are involved. And that a research project involving the development of comprehensive treatment approaches is just about ready to start.

The direct customer of these studies is the American Rett Syndrome Research Trust, www.rsrt.org, which is headed by Monica Conrade, the mother of a 9-year-old girl with Rett syndrome. We started communicating with Monica. First by phone, and then we met in person. For this meeting, my husband and I flew to America.

FUND

Monica's example inspired us and made us think that we are not alone in our troubles. Monica was involved in the treatment of Rett syndrome long before we knew about its existence. She was able to explain a lot to us. She spoke about a research program designed for 5-6 years and affecting everything. possible treatment approaches. Understanding that a great work had begun, my husband and I decided not to stand aside either.

With the consent and blessing of Monica and the Rett Syndrome Research Trust team, having returned to Kyiv, we began to formalize a charitable organization supporting Rett syndrome research projects.

I won't say it was easy. It took much more time and effort than we expected. But the main thing is the result. The result was the Rett Syndrome Research Foundation.

Doctors themselves also experience a lack of information. How many children cannot be diagnosed or are diagnosed incorrectly!

At the same time, I was creating the website www.rsrt.org.ua as a Russian-language information source. The Russian language was deliberately used so that the information was accessible to the widest possible audience. Now many people are joining us from the post-Soviet space, from Ukraine, Russia, Belarus, and Kazakhstan. Recently even Russian-speaking families from Ireland and Greece responded.

Doctors themselves also experience a lack of information. How many children cannot be diagnosed or are diagnosed incorrectly! The situation is especially difficult in the outback. Doctors don’t know what to do with such a child, and they certainly won’t advise mothers.

Doctors often instill in a woman the idea that she cannot cope on her own. For some mothers, the question arises whether to keep such a child in the family at all. I would like to say especially about special institutions where you can place a child in state care.

I'm against them! These are terrible places. A child with Rett syndrome is defenseless. If he is offended, he will not even be able to say about it. Only close and caring people can take care of the child and protect him. If parents abandon their baby, then strangers will certainly not take on their mission.

Children with Rett syndrome have very intelligent eyes. But not all adults bother to look into these not childishly wise, suffering eyes and read something important in them. At a minimum, a request not to turn your back on their destinies.

MOM'S CHILDREN

It is very important to give parents the understanding that the problem can be lived with. And not just live, but hope that a way out will be found. Now, more than ever, there are wonderful prospects. Previously, the word “incurable” crossed out hopes for the future. And now the wildest aspirations have been justified. Our children will get help soon.

Children with Rett syndrome have a chance of a cure, and it is higher than for children with other diseases, where research has not even begun yet. In any case, I encourage adults not to abdicate their parental responsibility. Of course, we all want to be free and mobile, no one wants complications. And in the case of a baby to whom you are attached in soul and body, who needs to live her life with her, there is a temptation to follow the path of least resistance. Lay down the burden of responsibility.

It is very important to give parents the understanding that the problem can be lived with. And not just live, but hope that a way out will be found

No, this will not solve the problem! A normal person cannot live calmly with the consciousness of complete betrayal! I address first of all to mothers. Men have a slightly different demand. The man could not bear this child, love often awakens in him only after the child has grown a little, it is interesting to communicate with him. In the meantime, there are no expected reactions, no return, paternal feelings are dormant and the child is perceived as a burden.

The mother has a great responsibility. And we must give women their due, they almost always take it upon themselves, no matter how difficult it is. Communication on the forum, alas, shows that such a woman is often left without the support of her husband. The men leave.

Unfortunately, my marriage also fell apart. Difficulties can bring people together, or they can separate them. The second thing happened in my relationship with my husband. Gradually we moved away from each other. Our dad didn’t give up on us, but we no longer live in the same house.

Well, I have no complaints about this. We discussed what the father’s share of material participation is in his daughter’s life, and regarding non-material...

GLOBAL PROBLEM

I want people who are faced with the same problem as me not to despair and not give up. And those who did not collide were treated with greater understanding. It is necessary to change human consciousness, the attitude of society towards special children.

In our country, the grief of others, unfortunately, often evokes not sympathy, but curiosity and a desire to point a finger. Wry glances on the street, whispers behind your back: “Probably she drank, smoked or took drugs, this is the result!”

Today, the problem of genetic diseases is global. With our ecology, frantic pace of life, instability and disasters, no one is safe from them. And there are no extreme and guilty ones. The reason is not a burdened heredity, not that one of the parents led an incorrect lifestyle.

In 99% of cases, genetic diseases are primary. And everyone is at risk

In 99% of cases, genetic diseases are primary. And everyone is at risk. For us, this is already a reality; there is no need to hush up the state of affairs. There have been no wrong things in my life. No smoking, no alcohol, no drugs. And the relatives did not suffer anything. It's the same on the husband's side.

I advise couples planning the birth of a baby to go for a consultation with a geneticist. Using a blood test, the doctor will determine what diseases the child may have.

Recently in the Verkhovna Rada we raised the issue of strengthening the prenatal medical base. So that pregnant women undergo not a basic examination, but a more comprehensive one.

A doctor, a pathology specialist, can notice most deviations from the norm on an ultrasound scan at the earliest stages. Genetic diseases are divided into male and female. In some countries, in the early stages of pregnancy it is even possible to reprogram the sex of the unborn baby - for example, if the disease is on the male Y chromosome, then the girl will not be affected.

WITH HOPE

My Caroline is a very cheerful child. And this is because I have this love of life, a feeling of happiness from contact with the world around me. Children depend so much on us!

It’s nice to hear a compliment from new acquaintances: “We would never have thought that you had such a life situation!” Yes, I live in such a way that no one has any reason to say that difficulties have broken me.

My life has changed, but has not stopped, has not collapsed! Yes, 90% of it is focused on the child. But I find time for my interests, friends, I don’t bury the woman inside me. And it was the child who gave me the incentive to live fully and look my best. It’s surprising how many people around us complain about life, fixate on small troubles, and elevate some little things to the rank of big problems.

But there are other examples - women-mothers, whose problems cannot be called minor. They know how to love life, make the most of their time and energize others!

Almost three years have passed since the launch of the research program to overcome Rett syndrome. In fact, half of the period stated by scientists. A huge amount of work has already been done. Its importance also lies in the fact that the treatment being developed can also be effective in the fight against diseases such as autism, schizophrenia, encephalopathy, various degrees of mental retardation in children, learning disabilities, and Parkinson's syndrome.

Of course, we will live in hope for a few more years. But it is she who makes us move forward. It is she who is the harbinger of faith and the companion of love - love for our children.

Rett syndrome is a rare genetic disease that impairs brain development. Seen in infants and young children, especially girls. The child demonstrates normal development early in life, with the first symptoms appearing between 6 and 18 months of age.

Causes

In 99.9% of cases, Rett syndrome is caused by a sporadic mutation of the MECP2 gene, which is located on the X chromosome. The mutation is spontaneous, occurs randomly and is not transmitted from parent to child.

If boys are born with a mutation in the MECP2 gene on their only X chromosome, it results in encephalopathy and, very often, death in early childhood. In rare cases, Rett syndrome is present in males when a boy is born with more than one X chromosome (XXY configuration). This condition is called Klinefelter syndrome.

Symptoms

The first symptoms appear from 6 months, but the most pronounced changes occur between 12 and 18 months:

• Slow skull growth. This is the first sign of Rett syndrome. As we get older, the slowing of growth in other parts of the body becomes more noticeable;
• Loss of hand coordination. The child stops using his hands to point or grasp objects. Stereotyped hand movements develop - striking, stroking, tapping, etc.;
• Speech Impairment. The patient stops talking. Lost interest in people, toys and the environment;
• Seizures. They occur in 50-90% and lead to muscle spasms, which can lead to epileptic seizures;
• Lack of coordination and balance. Loss of ability to crawl or walk;
• Breathing problems- apnea, hyperventilation, swallowing air (aerophagia);
• Irritability. Periods of crying or screaming last for hours;
• Scoliosis or severe rachiocampsis;
• Arrhythmia or irregular heartbeat;
• Constipation;
• Vasomotor disorders. The limbs may take on a purple or pale tint;
• Strange facial expressions, prolonged laughter, screaming for no apparent reason.

Development of the disease

Rett syndrome develops in four stages:

Stage 1
From 6 to 18 months. A child whose development was normal has a decreased interest in toys and people. His skull growth is slowing down.

Stage 2
Occurs between 1 and 4 years of age. Rapid regression within weeks or months. The patient no longer interacts with his environment, moves little, and does not use his hands properly.

Stage 3
Observed from 2 to 10 years. Even if movement problems persist, behavior gradually improves. The child becomes calmer, makes eye contact, and learns to use his hands. Some remain in this stage for the rest of their lives.

Stage 4
Starts after 10 years. Motor skills deteriorate, the patient no longer walks, and stops talking with people. Muscle weakness appears.
During the first two stages, it is difficult to distinguish Rett syndrome from autism, so it is necessary to constantly consult a doctor.

Life expectancy with Rett syndrome

The condition worsens in children until they reach adolescence, when symptoms begin to subside. The average life expectancy of a person with Rett syndrome is 45 years. Causes of death include pneumonia, aspiration or malnutrition.

Treatment

There is currently no effective treatment, but medications can control some symptoms. Treatment includes the combined work of several medical specialists - educators, physiotherapists, speech therapists, etc. The doctor (therapist) coordinates different types of treatment and constantly monitors the development of the disease in order to adjust the treatment. The patient needs support throughout his life. Let's look at some examples of treatment.

Epileptic seizures
Carbamazepine, lamotrigine, and valproate are the most common drugs used to treat epilepsy.

Sleep disorder
Melatonin can be used for sleep disorders.

Physiotherapy
Treatment of movement disorders slows down regression and is aimed at maintaining joint mobility, elasticity of muscles, tendons, and also to prevent skeletal deformation. Let's look at the main examples:

• Corset to support the spine. If scoliosis worsens, surgery may be required;
• Physiotherapy classes, regular exercises to develop and maintain leg tone, mobilize joints and improve coordination;
• Therapy sessions to develop fine motor skills;
• Maintaining the swallowing reflex.

Speech Impairment
Children with Rett syndrome cannot speak. Classes are conducted jointly with parents to teach them to understand facial expressions, gestures and non-verbal communication of a sick child.

Special training
Implies the integration of students with disabilities into general education school programs. Patients need support from teachers, classmates, relatives, and friends in order to succeed and benefit from their school experience. The role of such education is to mediate between the educational and family environment of the child, as well as to create an individual curriculum.

Hydrotherapy
Exercises in a special pool reduce the spasticity of hard tissues, calm the patient, who is able to move easily and freely in the water without fear of falling. The second advantage is the pleasure of new, exciting sensations due to water procedures and the ability to move in ways that he cannot move on land. In some cases, water allows the patient to express their lost or hidden motor skills.

Special diet
A balanced diet is essential for maximizing growth and improving mental and social skills. Some patients must follow a diet high in fat and calories, while others must be fed through a special tube. Calcium and mineral supplements help strengthen bones, which slows the progression of scoliosis.

Psychotherapy
Psychological assistance is recommended for patients and their families. Many psychiatrists and psychologists specialize in treating patients who do not use spoken language.

Music therapy
Music therapy can improve hand motor skills, reduce stereotypic movements, develop the ability to make decisions, increase attention, establish eye contact, and develop emotional and communication channels that will help you relax and calm down.

Further research into Rett syndrome

Medicines
During animal testing, effectiveness was observed when using cysteamine. The life expectancy of mice has increased and their motor function has improved.

Ketamine has also been tested on animals. It has been reported that the use of ketamine in mice with Rett syndrome can reverse brain activity abnormalities and improve the neurological function of these animals. Further work is needed to establish the safety and feasibility of treatment in patients with Rett syndrome. A clinical trial is planned.

Neuroimmunology
Bone marrow transplantation to replace defective immune system cells in mice stopped a number of serious symptoms of the disease (abnormal breathing, impaired movement) and significantly increased the life expectancy of the subjects.

Conclusion

Currently, there is no specialized treatment for this disease, but early diagnosis and constant monitoring of symptoms helps patients better adapt to the current situation. Psychological support is very important.

The names of the two diseases - Rett syndrome and Tourette syndrome - sound very similar, so people who do not know medicine at the proper level may confuse them.

But these two diseases radically different from each other on symptoms, treatment methods, prognosis.

In order to timely identify Rett and Tourette syndromes in children, it is important to know their main signs.

What is cerebrasthenic syndrome in children? Find out about this from ours.

What kind of diseases are these?

As stated earlier, both of these syndromes similar only in names, and they should not be confused under any circumstances.

They have only a few minor similarities, including:

1. Genetic predisposition. Both syndromes occur due to different genetic defects.
2. The appearance of the first signs in early childhood. In this case, Rett syndrome manifests itself in children aged from six months to two and a half years, and Tourette syndrome - between two and five years. However, the first signs of Tourette syndrome may appear during adolescence.

Rett syndrome is a genetically determined disease that develops exclusively in girls. In rare cases, it is observed in boys who have an additional X chromosome.

Children with Rett syndrome develop normally during the first months of life, but as the disease begins to progress, their physical, mental and psycho-emotional development slows down.

Rett syndrome has stages of development.

Below, in the “symptoms” section, the features of Rett syndrome will be discussed in more detail.

Tourette's syndrome- a genetically determined disease, which is characterized by the presence in a child of a large number of uncontrollable nervous tics.

For many people with Tourette's syndrome, the severity of their tics decreases significantly as they reach adulthood.

The intelligence and health of such people are completely normal, they can lead a full life and only need support from loved ones and medical and psychological assistance.

More than 60% of patients with Tourette syndrome are boys and men.

Causes of disease development

Rett syndrome develops due to presence of a genetic defect, which affects the MECP2 gene, which indirectly controls the process of formation of nervous tissue.

If such a gene defect occurs in a boy, he dies during intrauterine development. Girls survive because they have two X chromosomes.

Tourette's syndrome is also directly related to genetics and often occurs family disease: Several family members are sick at once.

Also, the likelihood of developing Tourette's syndrome increases if close relatives have various involuntary movements (nervous tics, myoclonus, chorea).

Also development of Tourette's syndrome associated with the following unfavorable factors:

Premature babies are more likely to develop Tourette's syndrome.

Psycho-emotional trauma and infectious diseases can influence the course of Tourette's syndrome.

Symptoms of pathologies

Symptoms characteristic of Rett syndrome, it is most comfortable to consider within the framework of stages (see photo).

In addition to the main symptoms, Rett syndrome includes diseases that often occur in people with motor limitations (muscle atrophy, curvature of the spinal column due to weakness of the muscular corset, circulatory disorders). Patients require constant care.

Main symptoms of Tourette's syndrome:

The severity of symptoms may vary.

Diagnostics

If the doctor suspects that a child has Rett syndrome, he will refer him to:

1. Magnetic resonance imaging. The brain of a child with this disease is reduced in size, and smoothness of the convolutions is observed.
2. Encephalography. The study shows low levels of electrical activity in the brain.
3. Genetic research. Modern tests make it possible to determine the presence of a mutation with one hundred percent probability.

Also shown examination of internal organs: In a third of children with this disease, the spleen and liver are underdeveloped.

The diagnosis of Tourette syndrome is made based on the symptoms characteristic of this disease.

Disease it is important to differentiate with a number of other neurological diseases that have similar symptoms, such as:

• Huntington's chorea;
• chorea;
• epilepsy;
• disorders .

To exclude them, the child is referred to a neurologist and psychiatrist. Magnetic resonance imaging, computed tomography, electroencephalography and other studies may be indicated.

Treatment and prognosis

Rett syndrome

Modern medicine cannot cure Rett syndrome, and treatment is aimed solely at relieving symptoms that are present in the patient and impair his quality of life.

Usually medications are prescribed to control the somatic diseases present in the child (diseases of the liver, heart, spleen, stomach, intestines).

In the presence of epileptic seizures anticonvulsants are selected.

Finding appropriate anticonvulsant therapy is extremely difficult, since epileptic seizures in Rett syndrome difficult to control.

If a child has difficulty sleeping, he is prescribed medications to help improve sleep (various sleeping pills, including melatonin, sedatives).

To prevent the occurrence curvature of the spinal column, it is necessary to ensure that the child has a formed muscle corset. To do this, they work with him regularly and give him massages.

Nootropics in the treatment of Rett syndrome show low efficiency, but they are still often prescribed.

The prognosis for this disease is extremely negative: patients suffering from Rett syndrome have profound disabilities and must receive continuous care for the rest of their lives.

In the presence of high-quality supportive treatment, patients able to live up to 40-50 years. Adult patients have a high risk of developing stroke.

About Rett syndrome in this video:

Tourette's syndrome

What tactics doctors choose during treatment depends on the severity of the disease and the age of the child. The basis of treatment for Tourette's syndrome is psychotherapy. Actively used:

1. Animal-assisted therapy. Interaction with animals (horses, cats, dogs, hamsters, guinea pigs, various birds) has a positive effect on the child’s psycho-emotional state: he receives a source of positive emotions and at the same time learns how to interact correctly with animals.
2. . Most often this is drawing (with pencils, paints - not only with a brush, but also with fingers, a sponge), modeling from clay and plasticine, applique, origami. Older children may be offered wood burning and carving. It also helps them relieve internal tension, feel important, increase self-esteem, improve concentration and attention.

The therapist tells the child, how to deal with nervous tics, talks about how important it is to accept yourself, helps to cope with psycho-emotional shocks and mental illnesses.

Children are also offered physical therapy and various types of massage.

If the symptoms characteristic of Tourette's syndrome seriously interfere with the child's life, and gentle treatment methods (physical therapy, psychotherapy) have not shown the necessary effectiveness, treatment is prescribed. drug support. Typically indicated:

• antipsychotics (Haloperidol, Periciazine);
• benzondiazepines (Diazepam, Phenazepam);
• adrenergic stimulants (Clonidine).

In most patients, symptoms become less severe and the need to take medications disappears. The prognosis for Tourette syndrome is almost always favorable.

Even people with severe forms of this disease able to lead a full life.