Angelman's syndrome is a genetic abnormality (chromosomal mutation), which results in a delay in mental development, since the respiratory system is insufficiently formed, due to which neurobiological systems develop. So, a person has frequent laughter, chaotic hand movements, seizures, sleep disturbance. This disease is incurable, but improvement is possible only if the basic human need for oxygen is satisfied.
The disease appears as a result of the occurrence of a spontaneous chromosome defect, due to a mutation in the gene, a certain protein degradation enzyme occurs.
To date, Angelman syndrome occurs in one of twenty thousand newborns. It is characterized by:
1. Problems with breastfeeding, as this process involves good respiratory coordination to avoid aspiration. Therefore, children are not gaining weight enough.
2. Delay in the development of general motility, speech, attention. There is a difficulty in their training.
3. In 80% of cases, symptomatic epilepsy is observed. Tremors and uncoordinated movements of the limbs appear, convulsions occur, which can be in all muscles of the body, focal or in the form of loss of consciousness.
4. Laughter or smile for no reason.
5. Violation of the overall development - the wrong size of the head and facial features, strabismus, curvature of the spine.
Angelman syndrome is diagnosed by genetic analysis of the 15th chromosome. It is used when there is a decreased muscle tone in infants, a delay in the development of speech and motor skills, as well as small tremor, erratic movements of the 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, methods for treating this disease have not been developed. But there are a number of activities aimed at developing children with disabilities, as well as improving their quality of life.
So, classes are conducted with a defectologist and speech therapist, physiotherapy is used in case of muscle hypotension, and sleeping pills are prescribed for sleep disturbance. With seizures, the same therapeutic agents are used as with epilepsy (anticonvulsants). To maintain normal bowel activity, laxatives are used.
Studying with children from an early age, using special programs that are aimed at developing motor skills, you can achieve good results.
The development prospects of people with the syndrome depend on how affected the fifteenth chromosome. Some learn speech and self-care skills at a low level, others will never be able to talk and walk.
Thus, for children who have Angelman syndrome, certain behavioral features are characteristic: impulsiveness, self-stimulation, difficulty in communicating with people. Although most of them may have no speech at all, they are generally friendly, nice, and love to play, so it’s recommended that you teach them sign language so that they can communicate with people.
Such a developmental disability requires special training at the earliest stages, since problems only increase with age. The behavior of people remains strange, they are expressed only by gestures and sounds, can be aggressive if they are not understood. A family with children with Angelman syndrome often suffers from a lack of communication, but it should be remembered that patients need to be surrounded by an atmosphere of goodwill and provide them with appropriate care and treatment, and then positive results can be achieved.