What is Angelman syndrome and how to live with it

What is Angelman Syndrome

Syndrome AngelmanAngelman syndrome / Medline Plus is a rare genetic disorder that affects the nervous system. Turning off one of the genes leads to the fact that children have mental retardation, problems with speech and balance, mental retardation.

At the same time, people with Angelman syndrome have an addictive character, often smile and laugh. But of course, these are not the only symptoms.

What are the symptoms of Angelman syndrome

First signsAngelman Syndrome. Symptoms and Causes / Mayo Clinic violations appear in infancy.

• There are developmental delays. A baby aged 6–12 months cannot crawl and babble.
• The child does not have speech even at an older age.
• The baby has difficulty walking, often loses balance.
• There are problems with falling asleep and sleeping: the child sleeps much less than healthy children.
• The child often smiles and laughs. Children with Angelman syndrome look contented with life, cheerful and happy to such an extent that the name of the disorder has synonyms - the syndrome
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  parsleyCharacteristics of the Angelman syndrome / Student Scientific Forum-2017 or a happy doll.

Actually, the syndrome got its name from the British pediatrician Harry Angelman, who first described it in 1965. Doctor's article calledHarry Angelman. ‘Puppet’ Children A Report on Three Cases / Developmental Medicine & Child Neurology “Children are puppets. Report on three cases. The impetus for writing it, in addition to the typical symptoms that Angelman observed in his practice, was accidentally the picture he saw of Giovanni Francesco Caroto depicting a smiling boy with a drawing of a hinged doll in hands.

In addition to the main symptoms, a violation can be assumed by additionalAngelman Syndrome/NHS:

• convulsions, they usually begin at 2–3 years of age;
• sharp, jerky movements;
• small head, flattening of the occiput;
• the habit of constantly sticking out your tongue, clapping your hands, raising your hands while walking;
• hyperactivity;
• special passion for water;
• blond hair, skin, eyes - these children differ from other family members;
• strabismus;
• wide mouth with widely spaced teeth;
• curvature of the spine (scoliosis);
• overweight, he appearsAngelman Syndrome. Symptoms and Causes / Mayo Clinic due to the fact that in children with Angelman syndrome, appetite increases with age.

What is dangerous Angelman syndrome

From a physical point of view, almost nothing. People with this genetic disorder tend to have not badAngelman Syndrome/NHS health and live about the same long life as their peers.

However, due to mental developmental disorders, they cannot talk and most often communicate using sign language. And, unfortunately, they never become completely independent: they need a caring guardian throughout their lives.

Where does Angelman syndrome come from?

Most often, this disorder is the result of a broken or missing gene known as UBE3A. This happensAngelman Syndrome/Medline Plus with one of 12-20 thousand people.

Normally, the child receives each pair genes from parents: one copy from the mother, the other from the father. At the same time, in some areas of the brain of healthy children, only the maternal copy of the gene is active. Angelman's syndrome in most cases develops when, for some reason, the mother's UBE3A does not get to the baby. Or gets, but does not work.

However, this is not the only reason. Occasionally, Angelman syndrome occurs without reference to UBE3A. As a rule, in this case, children have disorders associated with other genes or chromosomesChromosomes are structures within cells that contain genes..

How is Angelman syndrome diagnosed?

Symptoms alone are not enough. A genetic blood test is needed to make a diagnosis.

This test allows you to assess the state of chromosomes, detect damage or anomalies in them, as well as “calculate” the performance of UBE3A and determine from whom it came from - from the mother or from the father.

Can Angelman syndrome be cured?

Like most genetic diseases, Angelman syndrome is incurable. Bye. Scientists leadAngelman Syndrome. Diagnosis and Treatment / Mayo Clinic research in the hope of learning how to repair or restore genes. And perhaps one day there will be cures for such genetic disorders.

Today, the treatment of Angelman syndrome comes down to making life easier for the child and, if possible, helping him adapt to the world around him.

Several specialists usually work with such a baby at once, and rehabilitation includesAngelman Syndrome/NHS into yourself:

• Taking anticonvulsants as needed.
• Physiotherapy. Most often we are talking about a variety of massages - they help improve muscle tone, move softer, maintain balance. Also, physiotherapy is very important at an older age, when a person with Angelman syndrome may have joint problems.
• Classes with a speech therapist and defectologist. They are important to teach the child to express his thoughts and communicate with others.
• behavioral psychotherapy. This is a way to overcome the inherent in children with Angelman syndrome hyperactivity, trouble concentrating.

If you deal with the baby, he will become less excitable, he will sleep better, he will be able to play with other children. It is unlikely that he will be able to study in a regular school. However, communicate with others and take care of yourself - for example, perform simple hygiene procedures, eat with a knife and forks, dressing and undressing, engaging in simple activities for an adult with Angelman syndrome is quite strength.

How to live with Angelman syndrome

Due to the peculiarities of the nervous system, a child with a syndrome is not able to assess his condition. And he needs constant support. Therefore, the main burden - both physical and, above all, psychological - falls on his parents.

It's hard. Therefore, doctors strongly recommendAngelman Syndrome. Diagnosis and Treatment / Mayo Clinic moms and dads seek support.

1. Don't blame yourself. Angelman syndrome is unpredictable and genetics it is not always possible to accurately determine its causes. Only occasionally babies with this disorder are born to people with a family history of this disease. Much more often, there are no prerequisites, and the news of the diagnosis becomes a bolt from the blue for parents.
2. Try to find for the child those specialists whom you really trust. They will help you make the right decisions related to caring for your baby, and such a “rear” will reduce anxiety.
3. Find people who are in the same situation as you and understand you. These may be members of local support groups - parents of children with Angelman syndrome. Or employees of charitable foundations that specialize in a particular violation. There are such funds in Russia. This is, for example, "angel syndrome». The foundation's website states that it was created to help families raising children with Angelman syndrome.

Ekaterina Komissarova