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Angelman's syndrome


Angelman's syndrome is a genetic disease which causes deviations in development of the patient, neurologic problems in the form of disturbance of the speech, difficulty when walking and, in certain cases, spasms.
Angelman's syndrome usually is not found while parents do not begin to notice a delay in development of the child at the age of 6-12 months. Explicit defects are shown at the age of 2 - 3 years.
As a rule, Angelman's syndrome does not influence life expectancy.

Symptoms of a syndrome of Angelman:

Signs of a syndrome of Angelman include:
1. A delay in development of the child.
2. Absence or minimum volume of the speech.
3. Inability to go, disturbance of balance (ataxy).
4. A tremor at the movement of hands and legs.
5. The child often smiles and laughs.
6. Hyperexcitability of the personality.
People with Angelman's syndrome can also have other signs and symptoms, including:
1. Spasms which usually begin from 2 - 3 years.
2. Sharpness of movements.
3. The reduced head size, a sloping nape (microbrachicephalia).
4. Squint.
5. Punctiform movements of language.
6. Hypopigmentation of hair, skin and iris of eyes.
Most of children with Angelman's syndrome do not show frustration signs at the birth. The first symptoms in the form of a delay in development are shown at the age of 6 - 12 months.

Reasons of a syndrome of Angelman:

Angelman's syndrome is genetic frustration. Most often it is connected with problems of the gene located in the 15th chromosome (UBE3A gene).
Usually, only the maternal gene replica of UBE3A is active in a brain. The majority of cases of a syndrome of Angelman develops when the part of a maternal 15th chromosome containing this gene is absent or is damaged. In a small number of cases, this syndrome develops when two fatherly copies, instead of one fatherly and one maternal copy (a fatherly disomy) are inherited.
Angelman's syndrome meets seldom. In most cases researchers do not know what causes genetic changes which lead to Angelman's syndrome. Most of people with this pathology have no hereditary history of this disease. In small percent of cases, however, Angelman's syndrome can be inherited from parents.

Дефект в 15-й хромосоме - причина синдром Ангельмана

Defect in the 15th chromosome - the reason Angelman's syndrome

Treatment of a syndrome of Angelman:

As there are no ways of recovery of chromosomal defects, there is no etiotropic treatment for Angelman's syndrome also.
In such cases the symptomatic treatment caused by manifestations of a syndrome is carried out. Depending on symptoms, treatment of a syndrome of Angelman can include the following items:
1. Antikonvulsanta. Drugs can be necessary for control of the attacks caused by Angelman's syndrome
2. Physiotherapy exercises. Children with Angelman's syndrome can learn to go better and to overcome other problems with the movements by means of physical therapy.
3. Though people with Angelman's syndrome usually do not master verbal language fully, communication is very useful for such patients. Nonverbal tongue skills can be developed on the basis of a sign language.
4. Behavioural therapy. Behavioural therapy can help to overcome to children with Angelman's syndrome a hyperactivity, to improve concentration of attention. Many patients with Angelman's syndrome are capable to build the relations with friends and to establish a family.

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