General Practice 2022

SíAngelman syndrome: what é, symptoms and treatment

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SíAngelman syndrome: what é, symptoms and treatment
SíAngelman syndrome: what é, symptoms and treatment

Angelman syndrome is a genetic and neurological disorder that is characterized by seizures, jerky movements, intellectual delay, lack of speech and excessive laughter. Children with this syndrome usually have a large mouth, tongue, and jaw, a small forehead, and tend to be blond and blue-eyed.

The causes of Angelman syndrome are genetic and are related to the absence or mutation in chromosome 15 inherited from the mother.

Angelman syndrome has no cure, however there are treatments that help to reduce symptoms and improve the quality of life of patients with the disease.

Main symptoms

The symptoms of Angelman syndrome can be noticed in the first year of life due to delay in motor and intellectual development.

The most common symptoms and features of this syndrome include:

  • Severe mental retardation;
  • No language, with little or no use of words;
  • Frequent seizures;
  • Frequent laughing episodes;
  • Difficulty starting to crawl, sit and/or walk;
  • Inability to coordinate movements or shaky limb movement;
  • Microcephaly;
  • Hyperactivity and inattention;
  • Sleep Disorders;
  • Increased sensitivity to heat;
  • Attraction and fascination for water;
  • Squint;
  • Jaw and tongue out;
  • Frequent babysitting.

In addition, children with Angelman syndrome have typical facial features, such as a large mouth, small forehead, spaced teeth, prominent chin, thin upper lip, and lighter eye.

Children with this syndrome also tend to laugh spontaneously and constantly and, at the same time, wave their hands, which also happens in moments of excitement, for example.

How to confirm the diagnosis

The diagnosis of Angelman syndrome is made by the pediatrician or general practitioner by observing the signs and symptoms presented by the person, such as severe mental retardation, uncoordinated movements, convulsion and happy face, for example.

In addition, the doctor recommends carrying out some tests to confirm the diagnosis, such as electroencephalogram and genetic tests, which are carried out with the aim of identifying the mutation. Learn how the genetic test that detects Angelman syndrome is performed.

How the treatment is done

Treatment for Angelman syndrome consists of a combination of therapies and medications. Among the treatment methods are included:

  • Physiotherapy: The technique stimulates the joints and prevents stiffness, a characteristic symptom of the disease;
  • Occupational therapy: This therapy helps patients with the syndrome to develop their autonomy in everyday situations, involving activities such as getting dressed, brushing their teeth and combing their hair;
  • Speech Therapy: The use of this therapy is very frequent, because people with Angelman syndrome have a very impaired communication aspect and the therapy helps in the development of language;
  • Hydrotherapy: Activities that take place in the water that tone muscles and relax individuals, reducing symptoms of hyperactivity, sleep disorders and attention deficit;
  • Musicoterapia: Therapy that uses music as a therapeutic instrument, provides individuals with reduced anxiety and hyperactivity;
  • Hipoterapia: It is a therapy that uses horses and provides patients with Angelman syndrome to tone the muscles, improve balance and motor coordination.

Angelman syndrome is a genetic disease that has no cure, but its symptoms can be alleviated with the above therapies and with the use of drugs, such as Ritalin, which works by reducing the agitation of patients with this syndrome.

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