Angelman syndrome what is, symptoms, causes and treatment

¿You have noticed any different feature in the behavior of your son or daughter? ¿His way of relating does not resemble that of other people of his age? ¿You feel that there is something strange after a few months from birth? The first moments of the life of a human being are fundamental and realize how it could be when it grows.

Despite certain parameters established by society that are linked to the characteristics that a baby should have, the truth is that each person is unique and unrepeatable. However, there are some babies that present some behaviors that differ from other children. Being able to observe these qualities carefully and have relevant data can help us act in a right way to this problem. ¿You want to know more about this? In this Psychology-online article, we will give you information about Angelman Syndrome: What is, symptoms, causes and treatment.

1. What is Angelman syndrome
2. Angelman syndrome symptoms
3. Causes of Angelman Syndrome
4. How Angelman syndrome is detected
5. How Angelman syndrome is transmitted
6. Angelman syndrome treatment

What is Angelman syndrome

When we talk about Angelman's syndrome, we refer to a Genetic disease that occurs in newborn boys or girls. Angelman syndrome interferes with the development of the body and brain From the person who suffers from it. Despite this fact, it should be noted that the symptoms begin between six and twelve months of life.

Angelman syndrome symptoms

Angelman's syndrome has some manifestations that allow to specify its diagnosis, However, it must be carried out by a health professional. The diagnosis must evaluate the baby's clinical presentation and take into account the genetic features present in the parents to be able to prepare successful conclusions.

Next, we will place the main symptoms of Angelman syndrome that must be taken into account:

• Absence of babbling and crawling Between six and twelve months of life. To be able to identify it well, in this article you will see when a baby crawls.
• Loss of balance and difficulty moving.
• Exacerbated smile.
• Difficulties for sleep or reconcile sleep.
• Absence of speech.
• Seizures From two or three years.
• Arms flutter.
• Small size.
• Rigid movements.
• Spasms.

One of the disciplines that studies and treats this type of syndrome is genetic psychology. Therefore, we invite you to consult this article about genetic psychology: what is and what studies to better understand how it can affect the person who suffers it and how to help it.

Causes of Angelman Syndrome

An extremely important element when taking into account the diagnosis of Angelman syndrome resides in the causes caused by this pathology. At general, Angelman's syndrome presents a neurological and genetic background caused on chromosome 15. This implies one deficiency in the genetic transmission of one of the parents that has an impact on the baby.

How Angelman syndrome is detected

The most effective way to detect Angelman syndrome is blood test, Because it can indicate genetic alterations present in the baby. Here is essential to compare genes by parents to corroborate if it is a genetic mutation, a lack of certain chromosomes or genetic deficiency.

How Angelman syndrome is transmitted

In general, one of the characteristics of Angelman syndrome presents a neurological and genetic background caused on chromosome 15. In other words, this disease occurs due to an alteration in the genes of the baby's parents. Next, we will see two possibilities that affect the transmission of this disorder:

• Maternal gene: In the vast majority of cases, the copy of the UBE3A gene by the mother is absent or damaged.
• Paternal gene: Faced with the inheritance of two copies of the UBE3A gene by the father, it can lead to Angelman's syndrome.

Angelman syndrome treatment

While Angelman's syndrome has no cure, there are some treatments that can provide a better prognosis and quality of life to those people with this genetic disorder. At the following points, we will develop how to treat Angelman syndrome today:

• Behavioral therapy: Because Angelman syndrome can cause problems of concentration, attention and bodily restlessness, behavioral therapy addresses the area referring to the person's behavior through various strategies that allow to face this type of situations in a more efficient way.
• Communication therapy: This type of Angelman syndrome treatment lies in the use of images referring to specific situations. In turn, sign language is also frequent in communication therapy. The work of the area of ​​communication is crucial for patients, given its difficulty in maintaining interpersonal relationships.
• Physiotherapy: This type of angelman syndrome treatment works mobility and motor coordination of the patient through specific exercises that are beneficial for him or her.
• Medication: Currently, there are some medications that interfere with neuronal operation. People who suffer from Angelman syndrome usually have seizures regularly. Due to this circumstance, anticonvulsive medications that inhibit certain areas of the central nervous system linked to seizures are prescribed on certain occasions. To better understand how it works, you can consult this article on the central nervous system: functions and parts.

As can be seen, it is important that the person suffering from Angelman syndrome performs both psychological and medical treatments, given the clinical characteristics of this genetic disorder.

This article is merely informative, in psychology-online we have no power to make a diagnosis or recommend a treatment. We invite you to go to a psychologist to treat your particular case.

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