Rett syndrome in girls, children. What is it, symptoms, description, treatment, prognosis, causes

A disease characterized by damage to the central nervous system (CNS) is Rett syndrome. With pathology, the psyche and intellect develop inadequately, in the future a person cannot adapt to society (the public).

In addition, speech and coordination are impaired. And growth also slows down. A rare but severe disorder most commonly affects female children. According to statistics, Rett syndrome occurs in 1 in 12,000 girls. The disease occurs in boys, but is very rare.

The syndrome was discovered in 1966. The disease was identified by pediatric neurologist Andreas Rhett. The name of the pathology arose from the surname.

At first, babies are no different from healthy babies. But from 6 to 18 months. the child loses the acquired skills, he stops playing, irritability appears. Then other signs appear. The disease is often confused with cerebral palsy and autism.

Stages and degrees

Rett syndrome in girls or boys is a disease that has a classification.

There are the following stages of pathology:

1. First. Another name is stagnation or previously delayed development. The stage appears at the age of 6 - 24 months. Duration - months. The stage may be overlooked, as the symptoms do not always manifest themselves vividly. Parents and healthcare professionals do not notice minor deviations. At this stage, the child loses interest in the world around him and games, cognitive abilities fade away. In addition, the growth of the head and limbs is delayed. And also there is muscle weakness, eye contact with people decreases. In addition, disorders of the internal organs (gastrointestinal tract, heart, kidneys) may develop, gross changes in motor skills (crawling, sitting) appear.
2. Second. In another way, the stage is called rapid destructive. Arises in 1 - 3 years of age. The stage can last from several weeks to months. The symptomatology of the disease increases. Increased irritability and anxiety are distinguished as signs. A child in a short period of time (several weeks) may lose the acquired skills and abilities - the ability to speak and move. And also a gradual course of the stage is allowed. Motor and neurological disorders appear - epilepsy, apnea, changes in the coordination of movements.

At this stage, non-targeted movements of the upper limbs may appear - wringing, twisting, and more. The child scratches himself, chews his fingers in his mouth, touches his chin with his hands. Additionally, children hit themselves in the face, put limbs behind their backs. The listed movements are performed continuously or at short intervals. In sleep, the limbs are relaxed.

Change in gait is possible. She becomes unstable, it is clear that it is difficult for the child to walk. Gradually, children lose the ability to hold objects (toys, spoon, etc.) in their hands due to muscle weakness. The skin of the legs turns blue, the limbs are cold to the touch. Additionally, the child has difficulty descending stairs. Gradually, the head is pulled into the shoulders.

At this stage, breathing disorders may occur. The process becomes more frequent, accompanied by a sudden stop with tension in the muscles of the neck and shoulders. The condition may last for a few seconds. Then breathing becomes normal. Violations can be repeated regardless of the length of time.

1. Third. Another name is the pseudo-stationary stage. Comes from 2 to 10 years. The stage can last for years. The condition improves slightly, the disease does not progress. The stage is characterized by mental retardation, epilepsy. Body weight is normal or increasing. At this stage, behavior improvement is allowed, the child is less irritated and becomes active.

And also the stage can be characterized by a complete loss of speech, but there is an understanding of gestures. Additionally, motor function is reduced.

1. Fourth. In another way, the stage is called late degradation of motor activity. Comes after 10 years of age, lasts for years (until the end of life). Motor function decreases, possibly curvature of the spine (scoliosis). The child may have an unnatural position of the limbs and upper body. Children who could walk lose their ability at this stage. The cessation of seizures is allowed. Perhaps the development of cachexia is an extreme depletion of the body, characterized by weakness and a sharp decrease in weight. Despite all the violations, the child has a full-fledged puberty.

Symptoms

Rett syndrome is characterized by general symptoms.

These include the following signs:

• mental retardation;
• avoiding eye contact with people;
• loss of interest in the world around and games;
• delayed development of the head and limbs;
• irritability;
• decreased muscle tone;
• pallor of the skin;
• decreased body temperature;
• involuntary muscle contractions;
• rachiocampsis;
• deterioration of facial movements;
• change in sleep - it is difficult for a person to fall asleep, night awakenings appear;
• change in breathing;
• impaired swallowing and chewing;
• attacks of severe anxiety, which are accompanied by unreasonable fear;
• seizures;
• impaired speech;
• loss of the skill of holding the object, the same type of movement.

Reasons for the appearance

Rett syndrome in girls and boys can occur when exposed to several factors. The disease has a complex nature, the causes of its appearance have not yet been fully understood.

The pathology may be associated with a change in the MECP2 gene, which is located on the X chromosome (determines gender together with the Y chromosome). It is responsible for the supply of protein to the brain and organ development. Nerve tissue does not form properly if the gene is damaged.

Women have 2 X chromosomes, and men have 1 (the other is replaced by Y). Therefore, the disease most often occurs in girls, since the second X chromosome is functioning normally and the child survives.

And the birth of boys with Rett syndrome is theoretically impossible, they die in the womb or immediately after birth, but there are exceptions. For example, if a child has a polysomy - the presence of an additional chromosome. That is, the boy has Klinefelter syndrome (XXY).

The disease can occur due to damage. The X chromosome has a fragile region, which (according to scientists) forms pathology.

A lesser known cause of the syndrome is impaired metabolism. That is, the metabolism changes.

Factors that increase the likelihood of Rett syndrome:

• a large number of blood ties in the family;
• abuse of bad habits during pregnancy;
• improper management of pregnancy - lack of examination and consultation with a gynecologist.

Diagnostics

To identify the disease, it is recommended to undergo an examination. The table lists the procedures that are often prescribed to identify Rett syndrome.

Name	Description
Search for mutations in the MECP2 gene	In private organizations there is an analysis that determines the disease. Under laboratory conditions, blood taken from a child is examined for mutations in the MECP2 gene. The analysis timeline may vary. On average, the indicator is within 14 - 25 days. Analysis cost - from 6000 rubles. Additionally, they can take a separate fee for taking biomaterial (100 - 300 rubles).
Electroencephalography (EEG)	With the help of EEG, it is possible to determine the pathologies of the brain that affect functionality. The result is displayed in the form of a graph. Positive qualities of the procedure: high accuracy; efficiency; no complicated preparatory rules; EEG is used not only for diagnosis, but also to distinguish a true disorder from simulation; the study can be carried out even if the person is in a serious condition or coma; safety; painlessness; inexpensive cost; almost every hospital has equipment; with the help of the procedure, diseases can be detected at an early stage when there are no symptoms. The disadvantages are the need for a stationary state in the diagnosis. It is especially difficult with young children. There are the following types of EEG: 1. Routine. The biopotentials of the brain are recorded in a short period of time (15 - 30 min.). The procedure is used to study and evaluate rhythms and identify pathologies. 2. With deprivation. EEG is done with sleep deprivation. That is, the child is not allowed to sleep all night or is woken up 2 to 3 hours earlier than usual. EEG is done one day after the initial awakening. 3. Night. Diagnostics is carried out in the clinic. The device is connected to sleep. The device is removed after natural awakening.
Computed tomography (CT)	X-ray method, which allows you to get images in different planes. If necessary, contrast is injected into the body during the procedure to improve visualization. The drug does not allow X-rays to pass through, so the organ is clearly visible in the picture. On CT it is recommended to remove all metal objects - earrings, glasses, hearing aids. It is necessary to go to the procedure in loose clothing that will not restrict movement. For CT, the patient lies on a movable couch. If necessary, inject a contrast agent. The table drives into an apparatus that looks like a life buoy. Research begins. The most important thing is to lie still. There is no pain during the CT scan. But people who were injected with a contrast agent report that there is a sensation of warmth and a metallic taste in the mouth. The procedure is carried out in 30-60 minutes. Most of the time is spent on preparation, scanning is fast. Small children who cannot lie still are given anesthesia. Positive qualities of CT: there is no complicated preparation; informativeness; obtaining three-dimensional images; painlessness; safety; low cost compared to MRI. Among the minuses, X-rays are noted.
Magnetic resonance imaging (MRI)	The procedure involves exposure to a magnetic field. A contrast agent may be injected to improve visualization. Positive properties of MRI: harmlessness - magnetic waves do not affect human health; informativeness; obtaining three-dimensional images; a clearer clinical picture compared to CT; painlessness. Minuses: cannot be performed with a pacemaker and metal parts; high cost compared to ultrasound, CT and other methods; research time - from 30 to 120 minutes. How the procedure is performed depends on the type of MRI machine. Types of tomograph: 1. Closed. The person lies down on the couch, the limbs are fixed in order to eliminate unnecessary movement. The table is pushed into the closed apparatus, the study begins. 2. Open. The man lies down on the couch, above which the tomograph is located. On the sides and in the legs, the space is often open. Research begins. Such a tomograph is suitable for people with claustrophobia (fear of confined spaces). The procedure takes 40-60 minutes, but the time can be increased up to 2 hours.
Electrocardiography (ECG)	The procedure is prescribed to confirm or refute pathologies of the heart and blood vessels. This is due to the negative impact of Rett syndrome. An ECG is to register the electrical potentials that arise during the work of the heart. Information is displayed on paper or film in the form of a graph. The electrodes are placed on the chest. ECG types: 1. Classical. The most common type. Diagnostics takes no more than 5 minutes. In a short period of time, you can learn about the violation of cardiac activity. The disadvantage of the procedure is execution at rest. 2. Daily. It is possible to detect disturbed activity of the heart during sleep and habitual daytime activity. The ECG machine is placed for 24 hours. The device is called a holter. Based on the results, heart disease is detected in the early stages of development. 3. Stressful. Monitoring heart activity during physical activity (special exercise bike or treadmill). The method is used in cases where violations in the organ are not visible in the classical ECG. With the help of the procedure, it is possible to find the cause of a poor state during activity, to find the source of the drop in blood pressure. A stress ECG is performed for 20-60 minutes.
Abdominal ultrasound	The method is prescribed to diagnose or exclude pathologies of the kidneys, gastrointestinal tract. Using the procedure, the size of the organs is determined. Ultrasound is performed using a transabdominal method. A special gel is applied to the abdominal cavity, which improves visualization. The sensor is led over the area. The procedure takes 10 - 30 minutes.

Before undergoing diagnostics, you must follow the preparatory rules. They will be recommended by a specialist depending on the specific procedure. Diagnostic costs may vary. The price depends on the list of procedures, city, organization. Therefore, it is recommended to check the cost at the clinic.

Rett syndrome in a boy or girl is a disease that can be detected free of charge. You need to contact the clinic with a compulsory health insurance policy (MHI).

Rett syndrome is similar to other pathologies. For example, autism (damage to the nervous system, in which there is a lack of communication and limited interests). The pathologies have similar symptoms. The table shows the differences in diseases.

Sign	Rett syndrome	Autism
Impaired physical development with vivid symptoms in the first year of a child's life	Seldom	Occurs frequently
Motor function	The movements are monotonous	Various movements
Identical movements with one subject	No	Present (opening and closing a book)
Impaired coordination	It manifests itself often, up to a stationary state of the body	No, since the cerebellum is not affected
Epileptic seizures	Often	Are rare or absent
Disturbed breathing	Apnea develops	No
Impaired bone growth in the head and limbs	It appears	No

When to see a doctor

If you suspect Rett syndrome, it is recommended to see a doctor. The disease is in the competence of a neurologist. The specialist asks the parents about the symptoms. Then he measures important indicators (blood pressure, temperature, pulse). Additionally, attention is paid to the head circumference, height, body weight. Next, the doctor examines the entire body of the child.

In the clinic, you can contact a pediatrician - a specialist who is engaged in the prevention, diagnosis and treatment of diseases in children under 18 years of age. The doctor will examine the child. If necessary, prescribe a referral to the required specialist.

Prophylaxis

The occurrence of Rett syndrome is influenced by negative factors. They increase the likelihood of getting sick.

Therefore, for the purpose of prevention, it is necessary to adhere to the following rules:

• choose places to live with a favorable environmental situation;
• Healthy food;
• eliminate bad habits;
• exercise;
• eliminate stress.

During pregnancy, women need to monitor their well-being, regularly visit a gynecologist. Additionally, you need to do ultrasound screening for the timely detection of the disease. During gestation, pathology can be determined and a decision can be made to preserve or interrupt.

Couples who have Rett syndrome in their family are advised to consult a geneticist before conceiving.

Treatment methods

Rett syndrome in girls or boys is a medical condition that cannot be cured. With the help of medication or herbal therapy, you can alleviate the well-being of the child. Symptomatic treatment of the disease at home or in a rehabilitation center is allowed.

Medications

Medication relieves the general condition of a person with Rett syndrome. The table shows the funds prescribed for the disease.

Group of medicines	Effect of application	List of funds
Antiepileptic	The drugs reduce epileptic seizures.	Carbamazepine, Konvulex, Depakine chrono
Adaptogenic	Medication normalizes the sleep-wake cycle. Additionally, when taking this group, sleep improves, falling asleep accelerates, and the number of awakenings at night decreases.	Melaxen, Melatonin
Nootropic	The drugs improve blood circulation and overall brain activity. Additionally, the group of agents has a positive effect on memory and learning.	Piracetam, Nootropil, Semax

Additionally, they can prescribe drugs for the treatment of diseases of internal organs (heart, kidneys, liver). For example, if Rett's syndrome influenced the development of pathology.

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

Traditional methods

Herbal recipes can be used to treat Rett syndrome symptomatically.

Popular folk remedies:

1. Pollen. The recipe helps the child gain weight. For cooking, you need to take 500 g of pollen and 2 cans of condensed milk, mix well, refrigerate for 14 days. Then use 1 tsp. 3 - 5 days. You need to use the product on an empty stomach, immediately after waking up.
2. Bay leaf. The tool allows you to eliminate leg cramps. To prepare the recipe, you need to take 50 g of dry plant leaves and pour 1 cup 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, rub the limbs with a product.
3. Aloe. The recipe helps to strengthen the immune system. For cooking, you should take 100 g of aloe juice, 500 g of chopped walnuts, juice from 3 lemons. Stir, take 30 minutes. 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 drugs and folk remedies. It is allowed to use the methods shown in the table.

Name	Description
Proper nutrition	In Rett syndrome, it is recommended to adhere to the following principles: eat fractionally - up to 6 times a day every 3 to 4 hours; do not exceed 300 g serving size; exclude salty, fried, fatty; reduce the amount of sweet and starchy foods; replace high-fat foods with low-calorie foods; the diet should be dominated by vegetable soups, cereals; cook food with the boiled or steam method, bake in the oven; do not forget about the use of pure non-carbonated water.
Physiotherapy	A type of therapy involves the effect of artificial or natural factors on the body. Physical therapy can help relieve 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 by the hands of a masseur; cryotherapy - exposure to liquid nitrogen; acupuncture; mud therapy.
Exercise therapy	Physiotherapy exercises can correct the development of scoliosis in Rett syndrome. The list of exercises is given by a specialist, based on the stage of the disease.
Defectologist consultation	The specialist deals with children with developmental disabilities. The defectologist corrects problems with mental impairment, hearing, vision. Additionally, the specialist deals with problems with speech. Accordingly, the help of a defectologist is necessary for children with the following disorders: deafness; weak hearing; impaired vision or its complete absence; mental retardation; impaired motor function.

Possible complications

Rett syndrome is characterized by complications.

Possible consequences:

• damage to internal organs;
• complete loss of motor function;
• difficulty speaking and swallowing;
• rachiocampsis;
• cessation of breathing;
• death.

Rett syndrome is a serious pathology, but, despite this, the life expectancy of people with the disease is 40-50 years. Children can be fatal.

Most often this is due to respiratory failure, a severe attack of epilepsy, heart disease. And in males, severe damage to the brain tissue is not excluded. In this case, the lethal outcome can be up to 2 years of age.

A disease called Rett syndrome is a disorder of the central nervous system. Pathology is common in girls, but is not excluded in boys. Symptoms include seizures, curvature of the spine, and delayed development. To determine the disease, an examination is carried out.

It is impossible to completely cure Rett syndrome, therefore symptomatic therapy is prescribed. It includes the use of medicines, folk remedies and other methods (nutrition, exercise therapy, physiotherapy). With Rett syndrome, the most important thing is to prolong a person's life. To do this, you must adhere to the recommendations of a specialist.

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