Genetic diseases

Rett syndrome

Rett syndrome

Rett syndrome photo Rett syndrome - a genetic disorder with signs of degeneration that affects the central nervous system, gradually progressing and is manifested mainly in girls.This disease was named Austrian scientist Rhett, first described in 1966, this pathology.

for Rett syndrome is characterized by a regression of mental development, loss of purposeful movements, autistic behavior, appearance peculiar squeezing hands.

Rett syndrome occurs in 1: 10,000 girls, in most cases develops sporadically and only 1% of the patients is a family history of inheritance.

Rett syndrome causes

In the 90s there was a hypothesis that Rett syndrome - a certain disorder that is associated with gene mutations are localized in the X chromosome;due to the dominant feature and the boys can not be combined with life.

Later confirmed the transfer of a gene mutant X chromosome father that is very rare hereditary pathology can occur in boys as they receive from the father Y-chromosome.That is why the family type

of inheritance of Rett syndrome, boys are born in such families is almost healthy.

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

for Rett syndrome has been hypothesized interrupted development, which is characterized by deficiency of neurotrophic factors.Thus, affected basal ganglia, lower motor neurons, involved spinal cord and hypothalamus.Analyzing the morphological changes, researchers concluded that there is a delay in brain development from birth, who completely stopped the growth to four years.And these children observed a slowdown in the growth of body and some somatic organs.

Rett syndrome symptoms

Perinatal period and the first months of life of children with Rett syndrome does not cause doctors any suspicion, because at this moment do not show symptoms of the particular disease, or are they simply underestimated by experts.However, it is often possible to observe these children congenital hypotonia and small gaps in the existing driving skills (the ability to sit, crawl and walk).

disease occurs in stages, which are characterized by their clinical symptoms.

There are four stages of Rett syndrome.The first stage is characterized by stagnation or for children from four months to two years.During this period marks the first rejection, manifested slowdown child's head and psychomotor development, the disappearance of interest in all the games and diffuse muscle hypotonia.So, begin to show the first signs of the disease.

During this period of developing the next stage of Rett syndrome, which is quite rapidly progressing and doctors sometimes it is diagnosed as encephalitis.During this period, it appears nervous and mental regression, typical for children from one year to three years.In these patients with Rett syndrome marked sleep disturbances, anxiety attacks appear and "inconsolable cries."

then after a while the child completely lost all the skills he acquired before this period of life, basically, it's a purposeful movement of the hands, as he ceases to talk.In parallel with these symptoms appear peculiar hand movements in the form of washing.

Many children develop an abnormal type of breathing, such as sleep apnea, which alternates with the hyperventilation that occurs periods sometimes appear seizures.The main symptom of this stage of Rett syndrome is considered to be the loss of a child to communicate with others, and often perceive the disease of autism.

After regression, Rett syndrome is entering the third stage, which covers almost the entire pre-school and early school age with the relative stability in the course.The first signs of the disease are characterized by profound mental retardation, convulsive seizures, various extrapyramidal disorders such as hyperkinesis, muscle dystonia and ataxia.But notes a positive picture for the cessation of attacks that are characteristic of anxiety, improved sleep and the emergence of emotional contact with the child.

For ten years the child manifests the fourth stage of Rett syndrome, which is characterized by all violations of motor function in the progression.These patients tend to immobilization, increase in spasticity, muscle atrophy and secondary orthopedic deformities in the form of scoliosis, the appearance of vasomotor disorders of the lower extremities.

Children with Rett syndrome begin to lag behind in growth, they have a cachexia, but corresponds to the age of puberty, and much less likely to experience bouts of seizures.Such a condition in children can last for many years.

Rett syndrome manifested progressive course of the disease, and the appropriate boundaries between the stages does not exist.They were taken completely arbitrary.

highlights the most important clinical symptoms of this genetic disease.These include targeted traffic violation hand, when a child can not manipulate toys and keep a bottle.It is mainly manifested in the six or eight months and sometimes stored for up to four years.At this point, these children will appear in a kind of stereotype movements of the hands, particularly during waking the child.This movement resembles a hand washing, and they do their compressed, clench, clap them on the face, chest, and sometimes even behind.In addition, these children may bite their hands or suck your fingers, knock them in the face, chest.Such stereotypical hand movements is considered a characteristic feature of Rett syndrome.

In children with this diagnosis reveal the nature of acquired microcephaly, which develops as a result of slower growth of the head at onset of the disease.Despite the fact that the child is born with normal head circumference, this process leads to slower growth of the brain.

As for cognitive activity, the sick children with Rett syndrome are extremely limited in many capacities.Among them are adaptive, and intelligent speech.This is determined by standard psychological tests that can identify, how many occurs mental retardation.

Very often, children with Rett syndrome at the age of 1.5 years and a mental age of an eight-month development corresponds to the child.As a rule, children who began to talk a little bit, adapted to the social environment and learned to communicate, after disease progression lose these skills.Taking into account the observations of parents, it can be argued that the impressive and expressive language and social skills are lost from 4 to 11 months, and self-service - from 12 to 14 months.

Typical clinical manifestations of Rett syndrome are also apraxia and ataxia, which manifested incoordination and difficulty in performing activities for the limbs and trunk.If such symptoms the child makes sharp jerky movements, he disrupted the balance, there is a tremor, he goes straight to the spaced legs that do not bend and sway from side to side.Many patients with rapid progression of the disease do not have time to learn to walk.And those who have had this skill, it is gradually losing.

From the respiratory observed different types of respiratory abnormalities in the form of attacks of hyperventilation, irregular respiration and apnea with duration of two minutes, which can cause cyanosis, or fainting.Such disorders of the respiratory system observed during the waking child, and at the time of sleep they are missing.

Rett syndrome is also characterized by seizures, which occur in 80% of girls in the form of epileptic seizures with different types and not quite treatable.Among them, very often partial seizures, simple or complex, generalized tonic-clonic seizures nature or drop attacks.Seizures and convulsions may be different in frequency and occur much less often with the development of the disease.

In addition, in patients with Rett syndrome are not observed partial epileptic symptoms, which are sometimes mistaken for convulsions.These include jerky movements, tremors, sleep apnea, a closer look with the cessation of motion, strengthening paroxysmal stereotypes.

For many patients with Rett syndrome is characterized by scoliosis of the spine, which develops as a result of muscular dystonia back and increases with disease progression.

Almost all patients who did not have seizures, have EEG pathology two years.When the huge clinical symptoms of the disease have an increased amplitude and reduced frequency of background rhythm at the time of waking and epileptiform discharges properties, which increase during sleep.

Rett syndrome treatment

Currently this genetic pathology is absolutely limited in methods of therapeutic treatment.For Rett syndrome is mainly used in the symptomatic therapies.Some pediatricians offer a special diet, which contains the required amount of fat, to successfully increase the patient's body weight.In addition, regular feeding small portioned doses, every three or four hours, some patients stabilize the condition of patients with Rett syndrome.

If you have seizures there is a need to appoint anticonvulsants, despite the limited effectiveness.It is often preferred by carbamazepine, which is one of numerous drugs of anticonvulsants.

a result of the fact that in the cerebrospinal fluid of patients with Rett syndrome was found high levels of glutamate, have recently become used lamotrigine, a new drug for the relief of convulsive seizure.This medicament suppresses withdrawal of glutamate in the central nervous system.But in order to correct sleep disorders, melatonin is offered.

Because Rett syndrome identifies specific movement disorders, doctors recommend their patients to attend classes on physical therapy, which consists of exercises designed to support the body's flexibility and long-term function of the extremities, as well as to patients as long as possible could attend.

There are many psychological programs, which are aimed at maximizing the development of the existing motor skills training and communication on them.

also widely used treatment of Rett syndrome in the form of the use of music, which has a beneficial calming effect and children, thus partially be compensated for poor connections with the outside world.

Today medical scientists all over the world actively engaged in research on Rett syndrome.And in the near future it will open a specific biological marker, which will be able to treat this pathology or improve the condition of patients.

modern scientific evidence suggests that many of the symptoms are reversible.This is due to the tests carried out on mice and professor at the University of California Paul Belichenko were proposals treatment of Rett syndrome with stem cells.Thus, there is hope for positive results in the treatment and prevention of this disease.

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