What is Angelman syndrome and is it treated?

Angelman syndrome is a curious disorder that can be clearly identified by the appearance of the sufferers: a broad smile and a very happy look. However, this syndrome has many more features that are important to pay attention to.

It goes without saying that Angelman syndrome It’s a neurological disorder chronic. The first time this syndrome was identified as such and given a name was in 1965 thanks to pediatrician Harry Angelman, hence the name of the syndrome.

Initially, the syndrome It was known as “the happy puppet syndrome”. However, over time it was proposed to give it a name that would honor its discoverer.

Angelman syndrome is a rare disease

Angelman syndrome is a rare disease because it is not very common. The reason why a child can be born with this syndrome It is due to a genetic alteration. This has nothing to do with it being hereditary.

When a child has Angelman syndrome it is because a piece of the DNA fragment of chromosome 15 inherited from the mother is lost. This is not governed by the inheritance patterns that we know of, but if it recurs and appears to be inherited, the underlying causes of the syndrome should be addressed.

Angelman syndrome

With all this, what happens to people suffering from Angelman syndrome? In addition to presenting a happy appearance and demeanor, What’s behind all this?

Problems in Angelman syndrome

  • severe mental retardation: they lack the maturity of people their age, which prevents them from following an age-appropriate pace in terms of training, skills development and autonomy.
  • language problems: They may not communicate through speech at all, and if they do, they may have a poor vocabulary or be unable to express themselves adequately.
  • Ataxia: Have tremors in the extremities of the body which cause severe coordination and balance problems.
  • microcephaly: the size of the is much smaller than normal which causes brain atrophy. This also leads to compulsive seizures.
  • Visual disturbancesStrabismus problems or optic nerve atrophy may appear. However, this doesn’t happen in all cases.
  • Big mouth: the mouth is generally large and the teeth are often widely spaced. Also, they present prognathism and an exaggerated swelling of the tongue. Sometimes they have trouble swallowing food.

It needs to be mentioned HeChildren with Angelman syndrome They tend to be interested in building relationships with others.. His social attitude is very good. However, it is also curious to mention his particular interest in water and plastic.

Expectations of treatment of this syndrome

Since Angelman syndrome is chronic and its origin is in a genetic problem there is no cure. This means that there is no pill or treatment that can make the person who suffers from it stop forever. However, its symptoms can be treated.

For example, you can address the problem of hyperactivity, fix visual disturbances, work on speech problems and ataxia. Moreover, It is very important to promote social relationships it will help you a lot in your progress.

Also, you need to focus on mental retardation from which they usually suffer. By working and stimulating intelligence, attention and other important aspects, a certain autonomy can be achieved to enjoy a better quality of life.

However, every person with Angelman syndrome is differentTherefore, the treatment used must always be individual. But, above all, it must be constant and, if possible, involve the family.

It is necessary to mention that those suffering from Angelman syndrome has a normal life expectancyhe does not suffer from any health problems that could be related to this condition and his sexual development is completely normal.

One person may have more severe symptoms than another due to the degree of the genetic problem that caused this syndrome. However, in all cases, treating the symptoms can achieve favorable results. Although, of course, we must be aware that this disease will accompany us throughout our lives.

The post What is Angelman syndrome? Is it curable? first appeared on research-school



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