Rett syndrome is a severe pathology of the nervous system with a genetic predisposition, which occurs mainly in girls. The disease has a steadily progressing course, eventually leading to severe mental retardation, loss of self-service skills and even immobility. The main manifestations of the disease are the reverse development of already acquired motor and speech skills at the age of from 1.5 to 3-4 years, repeated stereotyped and uncontrolled hand movements, mental retardation. The Rett syndrome has a staged course, although there is sometimes no clear separation between the stages. The disease, unfortunately, is not yet curable. All currently existing methods of treatment are symptomatic, reducing the severity of individual manifestations of the disease, but no more. What exactly is Rett syndrome, how often it is found, what is characterized, how it proceeds and what helps to reduce the symptoms of the disease, you can learn from this article.
For the first time, the Austrian neurologist Andreas Rhett spoke about the presence of such a disease as Rett's syndrome in 1954. Among his patients, he found two girls with a similar clinical picture that does not fit into the already described diseases. He drew attention to a combination of mental retardation and a kind of rubbing his hands (as if they were being washed under water). By 1966, he traveled the greater part of Europe in search of similar cases and published a work in which he indicated 31 girls with similar unique symptoms. But the work went unheeded. And only in 1983, thanks to the Swedes, the disease was isolated in an independent nosological form and named after its discoverer.
Content
- 1Causes
- 2Symptoms
- 3Diagnostics
- 4Treatment
Causes
Rett syndrome is the second most frequent cause of mental retardation among genetic disorders after Down syndrome. According to statistical data, the incidence of Rett syndrome on average is 1 case per 10-15 thousand newborn girls. This is a fairly high figure. Rett syndrome is not described in males, which is associated with the alleged cause of the disease. According to the latest data, Rett's syndrome develops in the presence of a defect of the short arm of the X chromosome. Boys normally have one X and one Y chromosome in the genotype. In the pathology of a single X chromosome in boys, the fetus is not viable and dies still in utero. In the presence of other chromosomal abnormalities (for example, in the XXU boy genotype), when there are two X chromosomes, theoretically possibly the appearance of Rett syndrome (that is why the possibility of developing the disease in males is not rejected either).
Thus, it turns out that Rett syndrome is a disease that develops as a result of a genetic defect. A defect can be transmitted by inheritance to succeeding generations, new mutations of the X chromosome may arise.
Symptoms
More often than not, girls with Rett syndrome are born without any marked abnormalities.
They behave adequately, have average statistical indicators of growth, weight, head circumference, chest, in fact, no different from other newborns. Only in some cases small deviations are possible, which do not always attract attention even of medical personnel:
- diffuse decrease in muscle tone;
- later formation of motor skills (holding the head, sitting).
Most often, up to 4-6 months, girls with Rett syndrome do not find themselves anything. But from the second half of life there are already problems with health, which make parents and doctors prick up their ears. The first stage of the disease comes - stagnation. It is characterized by:
- slowing the growth rate of the head, that is, monthly increments to the circumference of the head become too small or nonexistent. The body grows, but the head does not. The delay in the growth of the head is a consequence of the stopping of the development of the brain;
- slowing of limb growth;
- 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;
- the suspension of the formation of new motor skills (for example, a girl of 9-10 months, but she still does not sit and does not even make appropriate attempts). On average, by the age of 12-14 months, children with Rett syndrome lose all self-service skills acquired earlier.
The first stage most often manifests itself at the age of 6 months - , years. Cases of a later onset of the disease are also described - in 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 to 3 years. The regression phase is characterized by:
- reverse development of skills already acquired. If the child already knew how to talk, then speech is lost, if he walked - stops doing it and so on;
- the purposeful movements of the hands are lost (it can not take an object, hold it in its hands, can not manipulate toys). Occasionally, until 3-4 years of age, such changes may not occur, but sooner or later they become impossible;
- instead of purposeful movements in the hands appear chaotic stereotyped and uncontrolled movements in the form of actions that imitate washing, in the form of rubbing the palms of each other (as when washing hands), clapping, wringing, squeezing, squeezing hands. Once appearing, such movements continue almost the whole period of wakefulness and are completely absent in a dream. Rare stereotyped movements can be sucking fingers, biting them, tapping on the chest or on the face. This symptom refers to the most typical symptoms of Rett syndrome;
- causeless anxiety, screaming and squealing, lack of emotional reaction to others (including loved ones). Because of this antisocial behavior, a child may be mistakenly diagnosed with autism;
- the appearance of epileptic seizures. Epileptic activity of the brain manifests itself in a variety of types of seizures: both partial and generalized. One and the same child may have various seizures. With Rett's syndrome, antiepileptic drugs are ineffective in preventing seizures. A characteristic feature of the disease is a gradual decrease in the frequency of seizures as it progresses;
- sleep disturbance;
- a breakdown in the rhythm of breathing: from episodes of a stop to a sudden increase. Respiratory disorders accompany only the period of wakefulness and does not develop in a dream. If the duration of periods of respiratory arrest exceeds 1-2 minutes, then it is possible to blueen the face, peripheral parts of the limbs and development of syncope due to insufficient intake of oxygen to the brain;
- violation of coordination of movements.
The rate of development of the above described symptoms can be different. Sometimes, for a few weeks, all skills are completely lost, epi-seizures and other disorders appear. Such a rapid course of the disease can be the reason for the establishment of an incorrect diagnosis - encephalitis (especially if this is all accompanied by infectious symptoms). In other cases, the symptoms appear slowly, one by one, for several months. Between the appearance of individual symptoms may take a fairly long period of time.
Following the regression stage, a third stage begins: the stage of relative stability. This period can last from 3 to 10 years. It is characterized by:
- some improvement in the emotional background, making contact with others;
- normalization of sleep (or its improvement in comparison with the second period);
- the disappearance of periods of unreasonable anxiety;
- progression of mental retardation. Against the background of their continuing active development of peers girls with Rett's syndrome look deeply retarded, because their mental and motor development stopped at the level of a 6-month-old child, well, a maximum - a one-year-old;
- preservation of epileptic seizures;
- progression of movement disorders. In addition to stereotyped movements in the hands, there may be uncoordinated and involuntary movements in the legs, trunk, neck, eye muscles. There is trembling, swaying from side to side;
- maintaining a low muscle tone.
After 10 years of age, the fourth phase begins: the phase of disease progression. In addition to disorders from the nervous system, problems with other organs also join. The fourth phase lasts until the end of the life of the sick person. It is characterized by such signs:
- the increase in muscle tone in individual limbs, resulting in the formation of contractures, the muscles gradually atrophy. In severe cases, complete immobility occurs;
- the appearance of secondary bone-joint disorders (scoliotic deformation of the spine and others);
- dysplasia, while the rate of puberty remains normal;
- violation of the blood supply of the lower limbs;
- weight loss up to cachexia;
- convulsive seizures become less frequent, and emotional contact with others is preserved.
There is no clear boundary between the stages described above. The course of the disease is very variable. Possible as lightning cases, and more delayed.
Diagnostics
Rett syndrome is a clinical diagnosis, that is, a number of clinical signs are required for its exposure. The International Association for the Study of Rett's Syndrome proposed diagnostic criteria for this disease. There are several groups among them:
- necessary (their presence is necessary for the diagnosis);
- additional (their presence confirms the diagnosis, but is not mandatory);
- Excluding (the presence of at least one of them rejects the Rett syndrome).
The necessary criteria include:
- absence of pathology in the fetus, revealed during pregnancy and in the first 7 days of life, the normal period of labor;
- the normal circumference of the head at birth and the slowing of its growth rate between 5 months and 4 years;
- loss of targeted movements of hands between the ages of six months and 30 months, coinciding with the loss of communication skills;
- appearance of stereotyped movements of hands after loss of targeted;
- speech impairment and mental retardation;
- disorders of walking, revealed at the age of 1-4 years.
Not always with the Rett syndrome, there are all the necessary criteria for the disease. Such forms of the disease are classified as incomplete, usually they are characterized by a lighter flow.
Additional criteria include:
- presence of respiratory disorders in the form of periods of rapid breathing, followed by stops. Appearance of respiratory disorders only during wakefulness;
- epi-seizures;
- violation of muscle tone in combination with their atrophy;
- violation of blood flow in the peripheral parts of the limbs;
- scoliosis;
- growth retardation;
- small undeveloped feet (due to a violation of walking stops does not reach the desired degree of development);
- The presence of changes in the electroencephalogram in the form of epiaktivnosti even in the absence of explicit epi-seizures.
Eliminating criteria:
- intrauterine growth retardation;
- increase in the size of internal organs (organomegaly);
- retinopathy, or atrophy of optic discs;
- small head size (microcephaly) at birth;
- confirmed perinatal brain damage (eg, trauma during labor);
- suffered severe infection or traumatic brain injury, in connection with which there were neurological disorders;
- The existence of a neurological or metabolic confirmed disease that is progressive in nature (not Rett's syndrome).
Treatment
At present, there is no radical way to get rid of Rett's syndrome, although developments are being actively pursued in this direction. The main direction in the treatment is symptomatic therapy, the main purpose of which is to eliminate the main symptoms of the disease and stabilize the patient's condition.
Frequent and fractional meals are recommended after 3-4 hours. Food should be rich in fats, vitamins, to ensure a normal weight. It is also believed that this mode of food intake contributes to some stabilization of the condition.
The treatment program necessarily includes sessions of massage and physiotherapy exercises. This ensures the maintenance of muscle tone, prevents the development of spasticity and contractures, contributes to a longer retention of motor activity (including walking).
Patients with Rett syndrome are shown therapy with music. It is believed that such treatment helps maintain contact with the outside world and has a mild calming effect.
From medicines with Rett syndrome use:
- antiepileptic drugs. The most common are carbamazepine and lamotrigine;
- hypnotics based on melatonin (Melaxen, Circadian).
Drugs can also be used to improve cerebral circulation and stimulate the brain (Encephabol, Pikamilon, Mexidol and others), but there was no significant effect on their use.
The forces of many scientists are currently directed at activating the "correct" gene of the X chromosome. The direction of treatment with stem cells is being developed. It is possible that this will prevent the progression of the disease. For example, in an experiment in mice in Scotland, scientists managed to eliminate the symptoms of Rett syndrome in mice by activating a specific gene.
Thus, Rett's syndrome is an incurable genetic pathology of mostly female people, characterized by progressive mental retardation, loss of targeted movements and walking with the advent of
stereotyped uncontrolled movements in the hands. The disease makes itself felt at an early age, aggravated with time. While there is no effective method for treating Rett syndrome, however, in this direction, active development is underway, which gives hope for getting rid of this ailment.
The OTP television channel, the For the Cause program about Rett's syndrome:
Watch this video on YouTube
