Angelmann's Syndrome

Angelmann syndrome is a genetic anomaly (chromosomal mutation), as a result of which there is a delay in mental development, as the respiratory system, due to which the neurobiological systems develop, is insufficiently formed. Thus, a person has frequent laughter, chaotic movements of hands, seizures, sleep is disturbed. This disease is incurable, but improvement is possible only if the basic human need for oxygen is met.

The disease appears as a result of the appearance of a spontaneous chromosome defect, due to a mutation in the gene, some enzyme of protein degradation occurs.

To date, angelman syndrome occurs in one in twenty thousand newborns. It is characterized by:

1. Problems with breastfeeding, as this process involves good respiratory coordination to avoid aspiration. Therefore, children gain inadequately.

2. Delay in the development of general motor skills, speech, attention. There is a difficulty in their training.

3. Symptomatic epilepsy occurs in 80% of cases . There are tremors and uncoordinated movements of the limbs, there are convulsions that can be in all the muscles of the body, focal or in the form of loss of consciousness.

4. Laugh or smile without reason.

5. Violation in general development - the wrong size of the head and facial features, strabismus, curvature of the spine.

Angelmann syndrome is diagnosed by genetic analysis of the 15th chromosome. It is used in the case when there is a lowered muscle tone in infants, a delay in the development of speech and motor skills, as well as a small tremor, irregular movements of limbs, frequent laughter or walking on unbent legs. DNA methylation, mutation analysis of the imprinting center and the UBE3A gene are also used.

To date, the methods of treatment of this disease have not been developed. But there are a number of activities aimed at the development of children from rural areas, as well as improving their quality of life.

So, classes are held with a defectologist and speech therapist, physiotherapy is used in case of hypotension of muscles, and sleeping disturbances are prescribed for sleeping disorders. At attacks the same medical agents are used, as at an epilepsy (anticonvulsants). To maintain normal activity of the intestine, laxatives are used.

Studying with children from an early age, using special programs that are aimed at the development of motor skills, you can achieve good results.

The prospects for the development of people with the syndrome depend on how much the fifteenth chromosome is affected. Some learn speech and self-service skills at a low level, others will never be able to speak and walk.

Thus, for children who have Angelmann syndrome, some features of behavior are characteristic: impulsiveness, autostimulation, difficulty in communicating with people. And although most of them can be completely absent, they are generally friendly, nice, love to play, so it is recommended that they train their sign language so they can communicate with people.

Such developmental disabilities require special training at the earliest stages, as the problems only increase with age. The behavior of people remains strange, they are expressed only by gestures and sounds, can be aggressive in case of their misunderstanding. A family with children with Angelman syndrome often suffers from a lack of communication, but remember that patients need to be surrounded by an atmosphere of goodwill and provide them with appropriate care and treatment, and then you can achieve positive results.