What is Rett Syndrome? Everything about the disease sounded: causes, symptoms, stages of development, diagnosis and treatment of pathology. Rett syndrome (RTT, deformation of the MECP2 gene) is a disease at the gene level, which is caused by severe mental retardation due to dysfunction of the central nervous system in humans. As practice shows, girls are most susceptible to this pathology. It is necessary to understand all the nuances of this dangerous disease, which is inherited.
Description of the disease Rett syndrome
The term itself indicates that it got its name in honor of its discoverer. There are two versions regarding the date when the world learned about this neuropsychiatric disease. Rett syndrome was discovered in 1954, described in 1966, and announced and recognized by the public in 1983.
Andreas Rhett, a neurologist and pediatrician from Austria, was studying the regression of mental development in children, and the specialist was interested in two of his young patients. The clinical picture of the girls' disease was radically different from all cases known to him, sounded in medicine. Intrigued by this paradox, Andreas Rhett decided to travel across Europe in order to find children with similar signs of pathology. In 1966, he presented to the scientific council the results of his research, which did not make any impression on his neurologist colleagues.
As an independent disease, Rett Syndrome began to stand out in 1983 due to significant additions to the main idea on the part of the Swedish researcher B. Hagberg. It was he who clearly voiced the symptoms of the ongoing pathology, which made it possible to draw up a general clinical picture of the sounded anomaly.
1999 is a breakthrough in the study of this disease thanks to the research of the American scientist of Lebanese origin H. Zogby and her team. It was these innovators who made it possible for the first time to diagnose the described deviation from the norm at the genetic level, revealing the mechanism of its occurrence.
After numerous studies by specialists, it can be generally concluded that Rett syndrome is a common nonsense (shortening or lengthening of the encoded protein) or missense mutation (amino acid replacement) of the MECP2 gene (a member of the protein family, modulator of gene transcription). A similar X-linked pathology is detected in heterozygotes, which mainly concerns girls. If we are talking about a mutation of hemizygotes, then the outcome for them is fatal.
It is for this reason that Rett syndrome in boys is a unique case (the exception is several atypical forms of the disease and the presence of an additional X chromosome), because in them it is practically incompatible with life (intrauterine fetal death or the death of a child upon reaching 2 years of age). Simply put, the sounded pathology is a manifestation of mental retardation in a person, which is inherited. The progression of the disease leads to neurological problems and dysfunction of the musculoskeletal system. Subject to all the recommendations of doctors and proper care, a person with a similar diagnosis can live up to 50 years.
Causes of Rett Syndrome
The etiology of this pathology is rather complicated not only for a common man in the street, but also for the physicians themselves. The main causes of Rett syndrome can be voiced by the following hypotheses:
- Gene mutation… Initially, it was believed that it is incest (family ties) that leads to such disastrous consequences in the form of a progressive X-linked disease.
- Breaking of the X chromosome (deformation of the problem area in its short arm)… This pathogenesis contributes to changes in the brain, which continue until the child reaches the turn of four years.
- Deficiency of neurotrophic factors… The sounded interrupted development causes deformation of the lower motor neurons, basal ganglia, and the spinal cord is involved in this pathological process.
It is a fact that Rett syndrome is hereditary. However, there is still no consensus among specialists regarding the nature of the formation of a sounded X-linked disease.
The main symptoms and stages of Rett syndrome
It should be noted that up to 4-5 months, the described pathology does not visually manifest itself in any way. An infant may differ from other healthy babies only in that he has some symptoms of hypotension and insignificant muscle sluggishness is recorded. However, after this period, the following symptoms of Rett syndrome can be determined in a child:
- Impaired mental function… CRD is the main hallmark of X-linked disease. At the same time, mental development is expressed in the absence of cognitive activity in the child and his mental retardation.
- Inappropriate movement… They have a repetitive and repetitive nature, which cannot be unnoticed by others. The hands of a child (and then an adult) with Rett syndrome are constantly restless. He tirelessly touches his fingers, claps his palms and makes movements that resemble washing hands.
- The problem with the proportions of the figure… First, in such patients, growth does not correspond to generally accepted standards, because there is a significant slowdown in it. Secondly, their head is much smaller than that of a proportionally folded person (microcephaly). The extremities of patients with Rett syndrome are also shorter than the norm.
- Breathing problems… They are expressed in aerophagia (swallowing and regurgitation of air), apnea (abrupt cessation of breathing) and hyperventilation (febrile shallow breathing).
- Difficulty speaking… Some babies with Rett syndrome learn the basics of speaking at first, which gives their parents hope. However, soon even these modest successes are reduced to "no" in the end.
- Strange walking… Children with a similar diagnosis walk as if on stilts, because they do not bend their knees. As they grow older, some of them find themselves confined to wheelchairs.
- Scoliosis… Its progression is inevitable for everyone with Rett syndrome. It arises due to dystonia of the muscles of the patient with a terrible ailment.
- Epileptic seizures… They are repeated quite often and begin to progress after the child is three years old.
Experts voice the four stages of the progression of the X-woven disease. The clinical picture of each of them is as follows:
- 4 months - 2 years… At this age, there is a delay in the growth of the head, the muscles begin to weaken, and interest in the whole world around us completely disappears.
- 2-3 years… In most cases, children who babbled and tried to walk before 12 months lose their acquired skills. It is during the sounded period that the child begins to make uncontrolled movements with his hands.
- 3-9 years old… This period of time can be called a fairly stable stage in the course of the disease. Extrapyramidal disorders (impaired movement, muscle tone) and mental retardation are the main indicators of this period.
- 9 years and beyond… After the end of the stable stage, disorders in the functioning of the spine and the autonomic system begin to progress, and such changes are an irreversible process. The seizures may stop, but the inability to move independently occurs.
With all the listed symptoms of the course of the Rett syndrome disease, the puberty of a child with a similar diagnosis is fully consistent with the norm. The sounded four stages can be called conditional, because much depends on the individual characteristics of the patient's body and the dynamics of the development of pathology.
Diagnostics of the Rett syndrome
It is best to take advantage of the possibilities of modern genetics even during the period of bearing a child. If such a precautionary measure has been missed, then at the first alarming symptoms, you should urgently seek help from specialists.
In order to observe the clinical picture of the X-woven disease, it is necessary to undergo a series of examinations:
- Neurologist's consultation… Parents who have begun to notice deviations in the development of their child should definitely visit a sounded specialist. The doctor will analyze the baby's life history, assess the young patient's motor and speech skills, and measure the circumference of his head.
- CT (computed tomography)… After consultation with a neurologist, this procedure may be prescribed. With the help of this method of diagnosing Rett syndrome, the state of the brain is analyzed and the arrest of its development is recorded.
- EEG (electroencephalogram)… If, when decoding the result, a slow background rhythm is observed, then this indicates the presence of an X chromosome mutation in the body.
- Electrocardiography… In patients with Rett syndrome, the risk of stroke increases several times. Therefore, this procedure is simply necessary.
- Ultrasound (ultrasound)… This type of diagnosis reveals the underdevelopment of individual internal organs (liver, kidneys, spleen and heart) of a patient with Rett syndrome. It is for this reason that patients with such a diagnosis are at risk of sudden death.
Quite often, deformation of the MECP2 gene (when it comes to its first or second period) is mistakenly diagnosed as autism. However, there is a certain difference between these two pathologies, which an experienced specialist will always notice.
Features of the treatment of Rett syndrome
Scientists all over the world are still trying to find a "miracle pill" from the voiced dangerous genetic disease. At the moment, doctors are only able to stop the symptomatic manifestations of this disease. Rett syndrome is usually treated with prescription drugs and conventional therapies.
Medications for Rett Syndrome
The main purpose of such an event is to support the general condition of the patient and improve the quality of his life. Typically, in this case, the following treatment for Rett syndrome is prescribed:
- Anticonvulsants… Frequent seizures of epilepsy need to be urgently blocked. Carbamazepine, Diazepam, Difenin, Clonazepam are the main drugs that are prescribed to the patient, and they are dispensed exclusively by prescription. The dosage is set only by a specialist, because if the drug is taken incorrectly, the patient has nervous tics, hallucinations, allergic reactions and other side effects. More recently, patients with this diagnosis have been prescribed the anticonvulsant drug Lamotrigine, which stops voltage-gated sodium channels. However, it should be remembered that anticonvulsants will not help with severe and frequent seizures.
- Hypnotic… It is important for a patient with Rett syndrome to regulate their daily routine. In this he will be helped by taking Melatonin, which is also called the sleep hormone.The patient can also be prescribed drugs with a similar effect from the group of barbiturates. They should also be taken solely as directed by a physician because their effects range from mild sedation to anesthesia.
- Vascular drugs… They are prescribed in order to improve the patient's blood circulation. In this case, medications such as Instenon, Sermion and Felodipine are prescribed to the patient.
- Nootropic drugs… To stimulate the functioning of the brain in Rett syndrome, neurometabolic agents such as Pantogam, Actovegin, Piracetam and Nootopil are usually prescribed.
In addition to the listed medicines, the patient's relatives are advised to purchase drugs that support the work of internal organs and correct the patient's behavior.
Traditional therapy for Rett syndrome
Rehabilitation for a diagnosis of RTT should not be limited to medication alone. An extremely comprehensive treatment will help you achieve positive results.
Features of traditional therapy:
- Exercise therapy… Physical therapy in this case will allow the patient to correct the development of scoliosis, from which most patients with Rett syndrome suffer. In addition, a complex of such activities, accompanied by massage sessions, will help the child learn to move around.
- Music therapy… The method according to the Tomatis system has a healing effect if there is a need to additionally stimulate the brain. The famous Frenchman based his designs on Gregorian chants, classical works (Mozart) and waltz.
- Animal therapy… Rehabilitation with horses, dolphins, dogs and cats is gaining more and more popularity. Instructor-assisted horse riding (hippotherapy) helps your child to keep weakening muscles in good shape. Dolphin therapy allows the little patient not only to get to know this magnificent mammal better, but also renews his interest in the world around him.
- Art therapy… It is important for a child with this diagnosis to plunge not only into the realm of sounds, but also to learn how to react to the best possible colors. Such classes can be carried out both under the guidance of a specialist and at home.
- Hydrorehabilitation… It is difficult to overestimate the effect on a sick person of massage sessions in water and taking mineral baths. Treatment in this way allows the child with RTT to relax a little during frequent seizures.
- Working on speech skills… Even if a son or daughter with Rett syndrome stops talking, then you should not despair. It is necessary to seek help from specialists such as a speech therapist and a defectologist.
Watch the video about Rett syndrome:
Rett syndrome in girls and boys (in rare cases) is a serious and incurable disease. Therefore, it is necessary to organize the patient proper care to maintain his general condition. Many research centers are looking for drugs for this pathology. Some experiments on mice have already yielded positive results, which gives hope for the healing in the future of patients with such a diagnosis.