Angelman Syndrome – What is it, Causes and Symptoms

Angelman Syndrome – What it is, Causes and Symptoms that many still don’t know. In addition, 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 Angelman Syndrome have a large mouth, tongue and jaw, a small forehead, and are usually blond and have blue eyes.

Usually, Angelman Syndrome is not easily diagnosed by the clinical pediatrician, due to its low incidence. Suspecting a genetic disorder, patients are usually referred to the neurology and genetics sectors of large hospitals, such as Clínicas or Escola Paulista de Medicina, in São Paulo. The diagnosis is then confirmed by DNA testing and a karyotype study.

Angelman Syndrome is quite difficult to recognize in the newborn or in childhood, since developmental problems are nonspecific in this period. Knowing the characteristics of Angelman Syndrome , however, it is possible, even for parents, to recognize a child between three and seven years old, when the symptoms of Angelman Syndrome  become more evident, although it is already possible to observe some delay. development from 6 or 12 months of age. In general, the pregnancy of a child with Angelman Syndrome is normal.

Causes of Angelman Syndrome:  The Causes of Angelman Syndrome In most cases it is due to a genetic abnormality on chromosome 15.  Angelman Syndrome  can be a mutation of one or more genes, or the absence of some of them. The diagnosis of Angelman Syndrome can be confirmed by genetic analysis in 90% of cases. In the remaining 10%, however, genetic abnormalities are detected.

Symptoms of Angelman Syndrome:  Symptoms of Angelman Syndrome can be:

  • Severe mental retardation;
  • Absence of language, with little or no use of words;
  • frequent seizures;
  • frequent episodes of laughter;
  • 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;
  • Spaced teeth;
  • frequent babysitting.

A common feature of Angelman Syndrome is that children, when laughing, wave their hands, which also occurs in moments of excitement.

Treatment of Angelman Syndrome:  The treatment of  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 Angelman Syndrome .

Occupational therapy: This therapy helps people with Angelman Syndrome to develop their autonomy in everyday situations, involving activities such as dressing, 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 water that tone the muscles and relax individuals, reducing symptoms of hyperactivity, sleep disorders and attention deficit.

Music Therapy: Therapy that uses music as a therapeutic instrument, provides individuals with a decrease in anxiety and hyperactivity.

Hippotherapy: It is a therapy that uses horses and provides patients with Angelman Syndrome to tone the muscles, improve balance and motor coordination.

Note: Angelman Syndrome is a genetic disease that has no cure, but the symptoms of Angelman Syndrome  can be alleviated with the above therapies and with the use of medicines, such as Ritalin, which acts by reducing the agitation of Angelman Syndrome carriers. .

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