When children are diagnosed with a mental disorder, this is always bad, but the question is, which is more frightening: a scary but familiar definition (like schizophrenia or autism) or unfamiliar concepts, such as Rett syndrome. Few of the non-specialists have a clear idea of what it is, and after all, treatment (or at least relief of suffering) of a small patient suffering from a mental disorder is possible only with a full understanding of the problem.
Characteristics of the disease
Modern science knows quite little about Rett syndrome, since for a long time it was considered an ordinary dementia and was not studied as something separate. For the first time, the idea that some unusual signs for classical dementia make it possible to single out a special disease came to the mind of the Austrian pediatrician Andreas Rett in 1954. For more than ten years, he tried to independently find confirmation of his own theory, which he succeeded, but the world medical community widely recognized the existence of an open syndrome only in the 80s of the last century.
Serious research in this industry began only at the turn of the millennium, which does not allow specialists to have sufficient baggage of necessary knowledge.
Rett syndrome today is described as a genetically determined progressive degradation of the central nervous system that affects the growth and function of the brain and musculoskeletal system. Children with this syndrome are unteachable, they cannot even move independently. The disease is rare, occurs approximately once in 10-15 thousand babies, and the absolute majority of the risk group are girls, but only a few cases of the development of the syndrome in boys have been recorded over the entire time.
Due to the short duration of the study of the disease, no one can say for sure how many years such children live, but scientists have come to the conclusion that boys, suffering from such a diagnosis thousands of times less often than girls, do not survive with it.
Clear signs of the disease are noticeable at the earliest stages of life - babies already show some symptoms, which worsen over time, and by the age of four, all development of the body completely stops.
At the present time, the disease is considered incurable, but the suffering of the child can be alleviated, and in the meantime, scientists from all over the world continue to try to find effective ways to defeat Rett syndrome.
Causes of occurrence
The exact causes of Rett syndrome are still a matter of debate, so several of the most common theories can be cited as examples. All of them are now being verified through various studies, and it's good that the doctors at least have established a difference from dementia and are now moving in the right direction.
Most often, experts point to genetic origin of the disease: they say the disease is caused by a gene mutation. This deviation develops to the scale of pathology even at the stage of gestation, so the consequences are visible already in the early stages of life.
It is indicated that increased number of blood ties in the pedigree certainly affects the likelihood of developing Rett syndrome, and the percentage of such connections is only high compared to the norm - 2.5% instead of 0.5%. In favor of such a factor as the causes of the onset of pathology, pronounced foci of morbidity also speak - usually these are small, rather isolated villages from the world, where sexual relations between members of the same family in the past are quite likely.
Another group of researchers points to abnormalities in the X chromosome - fragility of one of the sections of her short shoulder.
It has been proven that sometimes such an anomaly is actually observed, but scientists have not yet been able to find the exact site responsible for the development of pathology, as well as establish a certain pattern that allows one to assert a 100% relationship between cause and effect.
There is a third (less known) theory according to which Rett syndrome may be a consequence of metabolic abnormalities - impaired metabolism caused by mitochondrial dysfunction.
It is noted that all patients with this disease have increased blood levels of two acids - pyruvic and lactic, pathologies of lymphocytes and myocytes are also obvious. However, this is still only an observation, and experts now cannot say whether this is the cause of Rett syndrome or its consequence.
Signs and syndromes
There are a number of signs by which you can determine that a child has Rett syndrome - they are used by doctors, but parents of a child whose behavior seems suspicious can also pay attention to them.
Although it is generally accepted that babies are already born sick, in the first months of life, this can hardly be noticed in any way. The newborn looks completely healthy, of any painful signs, only a slight lethargy of muscle tissue, low body temperature and general pallor can be distinguished, but these symptoms may be subtle, and their very presence may indicate both Rett syndrome and an ordinary lung a cold.
Since Rett syndrome is a slowdown and subsequent arrest of development, alarming symptoms can be noticed already at the age of 4-6 months, when the baby begins to lag behind peers in such important developmental indicators as the ability to crawl and roll over on his back on his own. Again, such a lag can be caused by many factors, but it always requires the increased attention of doctors. Slow growth of the head gradually appears (in comparison with the rest of the body).
There are also such signs that are characteristic exclusively for this ailment - or are not typical in this particular combination for other diseases:
- Special hand manipulation. Degradation in Rett syndrome is quite deep - the girl suffering from it gradually loses the ability to hold objects in her hands, even if she did it confidently before. However, the hand movements do not completely disappear - they become unusual.
This ailment is characterized by repetitive movements reminiscent of washing hands, as well as clapping hands and body, fingering.
- Lack of interest in learning. A healthy baby is very curious and tries to learn about the world by any available means, while a girl with Rett syndrome is distinguished by indifference to the outside world and severe mental retardation. Sometimes the child manages to begin to distinguish between adults and even speak, but these successes soon disappear.
- Very noticeable head disproportion (in relation to the rest of the body).
- Seizures, often accompanied by wringing of hands - with a sharp transition from detachment and emotionlessness to loud screaming; epileptic seizures are also possible.
- Rapidly progressive scoliosis... Since the degradation of the nervous system has an extremely negative effect on muscle tone, the patient's posture deteriorates very quickly and takes on clearly pathological forms.
Chronology of development
Each little patient develops Rett syndrome individually, but nevertheless it allows specialists to identify certain stages of its development:
- First stage. It begins with the first signs, noted at the age of about 4 months, and lasts up to 1-2 years, has the appearance of a gradual stagnation of development. It becomes noticeable that the head and limbs grow more slowly than the body as a whole, the muscles are also unnaturally relaxed. At first, the child is not very actively interested in the environment, and then does not even react to an attempt to captivate him with an interesting game.
- Second stage. Time frame - ages from 1 to 2 years. If the child has already begun to learn to walk and talk a little, these skills are gradually lost, but the characteristic movements mentioned above appear. It is at this stage that Rett syndrome is usually finally diagnosed, therefore, most of the characteristic signs of the disease refer precisely to the second stage. A sick child shows unreasonable anxiety and does not sleep well, breathing problems arise. Periodic attacks of desperate screaming are likely, epileptic seizures are possible. At this stage, treatment aimed at eliminating symptoms has no effect.
Due to the refusal to perceive the world around the patient with Rett syndrome, other diagnoses are often mistakenly made - usually autism or encephalitis.
- Stage Three. It lasts up to about ten years, is characterized by a more stable state, there are even minimal signs of improvement - the girl now sleeps better, cries less and generally seems much calmer, sometimes even emotional contact with parents is possible. However, motor activity decreases even more and is replaced by numbness, which is diluted only by frequent convulsions. Mental retardation is assessed as profound.
- Stage four. After ten years, there is an almost complete destruction of motor skills - the patient usually turns out to be completely or almost completely immobilized. The inability to move independently is further aggravated by the extreme forms of scoliosis and poor blood supply to the extremities. At the same time, the number of seizures is reduced, the patient as a whole can maintain emotional contact with adults. There are no significant abnormalities in puberty. There is also no connection to life expectancy - there is fragmentary information that a person can live in this state for tens of years.
Diagnostic specifics
The first step in diagnosing Rett syndrome is to monitor the patient for the manifestation of the characteristic signs of the disease described above. If they are at least partially confirmed, the child can be sent for a deeper hardware examination: a computed tomography of the brain, an electroencephalogram and an ultrasound scan are done.
A particular problem is that Rett syndrome is very often confused with autism - this is caused both by some similarity of symptoms in the early stages of development, and by the not too great popularity of the disease we are considering now. Researchers of the problem draw attention to the fact that the first signs of autism are observed already in the first weeks of life, while patients with Rett syndrome in the first months look completely healthy.
Autistic people manipulate the surrounding objects, their movements do not look extremely awkward, but children suffering from Rett syndrome are very constrained in movements, breathe worse, have a small head and a tendency to epileptic seizures.
It is important to correctly distinguish Rett syndrome from autism in order to more effectively deal with its manifestations and not aggravate the condition of the little patient even more.
Treatment features
Since the disease is triggered by abnormalities at the genetic and molecular levels, modern medicine cannot completely cure those suffering from Rett syndrome. However, there is a set of measures and means aimed at at least partial improvement of the patient's condition.
The main (and in the early stages - the only) way to deal with the disease is drug treatment.
To block epileptic seizures, such children are prescribed "Carbamazeline" or any other potent anticonvulsants. To establish a stable sleep regimen, the drug "Melatonin" is used.
They also prescribe drugs that improve blood circulation and activate brain activity - they will not completely save from degradation, but they will help to slow it down and make it less pronounced. Sometimes doctors also recommend Lamotrigine, a new drug that limits the penetration of monosodium salt into the cerebrospinal fluid.
Scientists noted that in patients with Rett syndrome, such penetration is increased, but they cannot yet say for sure whether this is the cause or effect of the disease (and whether such a drug effect somehow affects the patient's condition).
However, not only drugs can slow the development of Rett syndrome. Doctors claim that correct diet also gives a positive result; to achieve it, the diet should be increased in fiber, vitamins and foods high in calories, since all these elements are vital for the development of any human body. It is recommended to feed the sick child more often - perhaps at least part of the increased portions of food will go as intended and contribute to the progress of the baby.
To maintain the musculoskeletal system in good condition, it is of great importance special massage and gymnastics. If in a healthy person such exercises would cause a clear development of muscle tissue, then in a patient it is more about resisting degradation, but with such a problem even such an achievement is already not bad.
Since patients with Rett syndrome are also characterized by an unstable emotional state, music is recommended, which has a calming effect. Some experts believe that it also contributes to an increase in interest in the world around us, because no conscious action is required to cognize it.
The complex of all these measures will not make the child healthy, but will slow down his degradation, perhaps - to preserve some psycho-emotional and motor abilities that are considered normal for a healthy person. In large cities, there are centers for adaptation of patients with severe mental disorders, which also deal with children with Rett syndrome.
We can only hope that in the near future scientists will present a full-fledged cure for this ailment - or at least one step closer to alleviating the condition of patients. Leading experts believe that it will be possible to successfully resist the development of the disease by implanting artificially grown stem cells into the body.
Today, such a technology is being actively developed, fragmentary information is received that the prototypes have even been tested on laboratory mice and gave a positive result. Such news inspires restrained optimism, but there is no need to talk about the exact timing of the victory of mankind over Rett syndrome.
In the next video you can watch the 1st episode of the program cycle "The diagnosis does not change the child, it changes you", conducted by the director of the Rett syndrome association.
