Rett syndrome in children, what is it? Picture, Symptoms and Treatment

Rett Syndrome - a progressive, degenerative disease of the central nervous system, named after the scientist who first described this pathology.

Syndrome diagnosed within the first 2 years of a child's life, and there it is usually in children normal pregnancy, childbirth and the full development of the first months of life (sometimes up to 1.5 years). Then there is a stop of development and regression of all forms of mental activity, which is accompanied by the emergence of autism, motor stereotypies, progressive motor decline. Subsequently, this disease leads to disability and even death.

The main manifestations of the disease are the regression of already acquired motor and speech skills aged 1.5 to 3.4 years, repeating stereotyped and uncontrollable movements of the arms, mental backwardness.

What it is?

Rett syndrome - a neuropsychiatric hereditary disease occurs almost exclusively in girls with a frequency of 1: 10,000 - 1: 15,000, is the cause of severe mental retardation in girls.

For the first time the disease has been described by the Austrian neurologist Andreas Rett (it. Andreas Rett) in 1966. The development of the child up to 6 - 18 months is going well, but then the girls start disappearing acquired speech, movement and object-role skills.

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A characteristic feature of this condition are stereotyped, repetitive movements of the hands, rubbing them, wringing, while not bearing the targeted character. It is difficult, the answers become monotonous or eholalicheskimi, sometimes it disappears altogether (mutism).

Causes of

In the 90s there was a hypothesis that the Rett syndrome - a certain disorder that is associated with gene mutations, are localized on the X chromosome; due to the dominant trait and the boys can not be combined with life. Later confirmed the transfer of the mutant gene is X-linked father that is very rare hereditary pathology can occur in boys, as they receive from Y-chromosome father. That is why when a family type of inheritance of Rett syndrome, the boys in such families are born apparently healthy.

Currently, there is evidence of the hereditary nature of the disease. The genetic cause of Rett syndrome associated with altered X-chromosome and mutations that occur in genes that regulate replication process. In this case there is a deficiency of certain proteins that regulate the growth and their disrupted cholinergic function.

the hypothesis of the interrupted development was put forward for Rett syndrome, which is characterized by deficiency of neurotrophic factors. Thus, it affects the basal ganglia, the lower motor neurons in the spinal cord involved and the hypothalamus. Analyzing the morphological changes, researchers concluded that the slowdown in brain development from birth place, which completely stops the growth to four years. And these children is marked slowdown in the growth of the body and certain somatic organs.

developmental stage

Rett syndrome is generated for a long time, so the disease is usually divided into several stages, depending on the deterioration of the patient:

1. Stagnation - the temporary suspension of a disease in which there is no increase of symptoms. It lasts from 6-18 months or more. The child loses interest in the surrounding events, marked hypotension muscles, slowing the growth of head and limbs.
2. Deterioration. Stage lasts from 1 year to 3-4 years. If the child has mastered the skills of speech, of movement, they gradually disappear. Appear stereotypical hand manipulation, disorders of the pulmonary system (giperventillyatsiya, dyspnea, sudden cessation of breathing), discoordination movements unmotivated anxiety. Already in 2 steps appear seizures whose treatment is not effective.
3. Relative stability, this phase can last up to early school age. There mental failure, seizures, low weight gain, impaired emotional contact with others. Epileptic seizures are replaced by inhibition of the nervous system.
4. The final stage is characterized by a decrease in the frequency of seizures, but there is cachexia, scoliosis, expressed disorders of the respiratory. Possible failure of the movement is determined low growth of limbs and small head circumference.

Characteristic symptoms characteristic of a particular stage, are not one hundred percent conventional and may vary depending on the rapidity of the disease and individual clinical cases.

Symptoms of Rett syndrome

Separately it is necessary to focus on the core symptoms, which is determined by Rett syndrome, because they were in medical practice there are cases where due to incorrect interpretation of signs of disease posed a completely different diagnosis, which led eventually to a rapid lethal outcome.

Rett Syndrome is defined by the following criteria:

1. Pronounced microcephaly. In the period after the birth of your child has a normal relationship of the head to the body size. Gradually head growth slows down, which is caused by a decrease in brain size.
2. Developing scoliosis. Violations of the spinal card common to all children suffering from illness data. The reason for the curvature of the back is a dystonia.
3. Mental development. Rett syndrome is characterized by profound mental retardation and lack of intense cognitive activity, which is normally present in all young children. Many patients initially acquire speaking skills and perception of the world, but they completely lose over time. The child has a noticeable lack of any expressive or impressive communication with the environment. To determine violations in mental development experts use standardized psychological tests.
4. Specific hand movements. Children have lost the skills of holding any object, be it a toy or bottle of milk. This gives rise to repetitive hand movements, reminiscent of washing under the tap, and characterized by compressing, shuffling fingers, clapping on the chest, face and back. Also, a patient can suck or bite your hands, randomly hitting herself with them in different parts of the body.
5. Seizures. Almost 80% of girls suffer from epileptic seizures, which are also accompanied by partial seizures, drop attacks, tonic-clonic seizure type. Rett Syndrome is characterized by signs of the formation predpripadochnogo condition: tremor, difficulty breathing, rapid movement, the direction of gaze at a point wherein a full body numbness. These symptoms are often treated with anticonvulsants, but these drugs do not give any positive effect, because symptoms are not listed belong to the group of convulsive disorders, and represent only Rett syndrome.
6. Neurochemical symptoms. During the study, patients who died in the severe stage of Rett syndrome, scientists have determined that the size of their brain were less than the norm of 12% or 24%, depending on the age group in which there was a patient. In the cerebellum, the cerebral cortex and the spinal ganglia were shortages of neurons and gliosis, as well as a reduced level of pigmentation. According to morphological studies to four years in people with Rett syndrome diagnosed full brain development stop and slowing the growth of other organs and body parts.

Diagnostics

psychiatric consultation begins with a medical history collection. During the conversation with parents specialist finds:

• whether normally proceeding pregnancy and childbirth;
• as the developing baby during the first 6-18 months;
• What are the dynamics of head growth;
• when the child began to lose acquired skills;
• Does the patient have stereotyped hand movements, seizures, speech disorders, respiratory depression, gait and coordination, psychomotor retardation.

For accurate diagnosis of doctors often prescribe additional tests:

• EEG (electroencephalogram), measuring the bioelectric activity of the brain (slow backbeat - evidence of mutation in the X chromosome);
• CT of the brain that allows you to detect changes that indicate the cessation of brain development;
• Ultrasound of the internal organs, giving the concept of the degree of their development.

In the absence of survey data can be confused Rett syndrome with autistic. For both of these conditions are characterized by:

• decreased ability to learn;
• loss of speech;
• lack of control over the pelvic organs;
• escape from the outside world;
• lack of eye contact;
• unwillingness to emotional and social contact;
• violation of the sensitivity of the body;
• unreasonable screaming and crying.

Distinguish one disease from another, you can use the differential diagnosis, developed in 1988 at the International Conference on Rett syndrome.

Differential medical diagnostics:

semeiography	Manifestation of Rett syndrome	The manifestation of autism at an early
Stunted growth of the hands, feet and head	A characteristic feature of Rett syndrome	no sign of
The lag in the development between the ages of six months to a year	not shown	often there
respiratory disorders	often there	do not appear
Stereotyped hand movements	Monotonous repetitive movements of the arms in the zone	Diverse and complex movements are not restricted zone area
epileptic seizures	frequent	seldom show
coordination of movements	Progressive loss of coordination, turning into complete immobility	Movement and gait almost normal, but seem to be campy

Using the differential diagnosis to distinguish autism from Rett syndrome may not only doctors, but also parents themselves.

Treatment

At this stage of development of medicine Rett syndrome is an incurable disease. However, with drugs, rehabilitation techniques and special diets can be achieved improve the state of the child, to prevent serious deformation of the body and improve the patient's quality of life.

In order to improve the general condition and mitigating the symptoms your doctor may prescribe the following medications:

• antiparkinsonian drugs (bromocriptine, Perlodel);
• nootropics to improve brain function (Cortexin, Cerebrolysin, Tserakson);
• medicines to regulate the biological day and night mode (Melatonin);
• drugs for nervous system sedation and behavioral (Noofen, Phenibutum, glycine);
• antiepileptic drugs for reducing the number of seizures (carbamazepine, lamotrigine);
• funds to support the work of the internal organs: heart, liver, stomach, intestines and pancreas.

At strongly expressed epilepsy receiving AEDs may not be effective. Often children with Rett syndrome do "outgrow" attacks: to 10 years of attacks are rare, and sometimes even go.

Rehabilitation

The rehabilitation program may include:

• Counseling psychologist and a speech therapist - once a week.
• Music therapy - increases the child communicative activity.
• Massage and health-improving physical training - aimed at strengthening muscles, increasing their tone.

Good feedback is a method invented by the French otolaryngologist, Alfred Tomatis. The aim is to re-learning process of the child's hearing, which improves the ability to learn and language development, enhances creativity and a positive effect on social behavior baby.

• Art therapy and dolphin therapy - positive impact on the psycho-emotional state of the child.
• Hippotherapy (therapeutic riding) and hydrotherapy (shower, pouring, wiping) - have a biomechanical effect on the child's body, strengthens muscles.
• ABA therapy - improves social adjustment of patients. Some complicated action (contact, creative play, speech) for a child are broken down into smaller parts. In the future, they are joined in one large block.

It is noteworthy that good therapeutic effect has Active Osteopath. Improving the condition is observed already after a few sessions.

power Features

Power sick child presents certain difficulties. Many girls have elevated salivation, poor condition of the oral cavity, so feed them the real problem. Some children have a good appetite and happy to use your favorite products. But they eat very slowly, food reception process can stretch to one and a half hours. As for drinking, almost half of the patients children have difficulty swallowing which appear choking, coughing, and may threaten to spill liquids into the airways.

1. Children with Rett syndrome difficult to chew food containing crude fiber (meat, raw vegetables, fruits), so it needs to grind, and give to the form of puree. Garnish better to offer small pieces or mashed form. During feeding need to make sure that the child's head was at the correct angle, do not throw back.
2. In some cases, when the process of eating becomes too painful and problematic, it makes sense to feed the baby through a tube with special nutrient mixture. This option can significantly improve the quality of life of the baby and can be a real salvation for him.

Many children suffer from nausea and often refuse to eat, so feed them is very difficult, these kids quickly lose weight. Therefore, the food should be enriched in protein and fat, calorie and sufficiently fortified. Recommended feed the child and often in small portions (every 3 hours), not to overload the digestive system. Young children give to drink fortified milk or formula milk.

Forecast

To find adequate treatment, physicians and scientists around the world engaged in intensive study of children's disease called "Rett syndrome". The data and results of research centers dealing with this issue, already confirm the version that processes that run disorders, reversible.

An active development strategy for the use of stem cells, which will be based on the treatment of Rett syndrome. Already today, advanced facilities tested on laboratory mice. The experiments of Professor Belichenko, held in the University of California, have a positive outlook and hope for a speedy scientific discovery of effective treatment of Rett syndrome.

prevention

Therapeutic exercise - one of the best ways of movement disorders correction. It includes exercises to maintain flexibility and amplitude of limb movements, as well as possible long-term preservation of skill walk.

Offers maximum psychological development program remaining intact motor skills and forming on their basis "language of communication". It is also used music therapy, as it has a beneficial calming effect on children and partially compensates for breach of contact with the outside world. Rett syndrome research is actively being pursued around the world, and the opening of its specific biological marker is probably only a matter of time.

When this happens, there will be new prospects for the treatment or alleviation of disease of the patients, as well as the possibility of prenatal screening and prevention of this disease.