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Angelman syndrome

21:55 - 4 May , 2021

Disease

What is Angelman syndrome?

It is a rare genetic disease that causes developmental delays noticeable between 6 and 12 months of age, later with seizures, balance disorders, and in the way of speaking. Angelman syndrome is due to an abnormality in a gene on chromosome 15, related to the absence or damage of the maternal genetic copy. Most people have no family history of the disease, although there is an increased risk of developing it if a close relative has it. One of the characteristic features of this pathology is that babies and children who suffer from it usually smile and appear happy most of the time, but they also present the following:
  • Flapping motion of hands and arms while walking
  • Light hair, skin, and eyes.
  • Small head, flat at the back.
  • Seizures.
  • Interposed tongue.
  • Jerky movements.
  • Sleep disorders.

Symptoms

The characteristic symptoms of Angelman syndrome consist of:
  • Little or no oral expression.
  • Delayed development.
  • Intellectual deficiencies.
  • Trouble walking.
  • Imbalance.
  • Constant enthusiasm and joy.
  • Insomnia.
Potential risks: Angelman syndrome can trigger the following complications:
  • Scoliosis.
  • High hyperactivity.
  • Overweight and obesity.
  • Problems sucking breast milk, in the case of babies, and swallowing food in children.
  • Greater difficulty falling asleep.

Diagnosis and treatment

Once your doctor discusses your baby's symptoms, they will perform a physical examination and blood tests to check for certain chromosomal abnormalities that may manifest in Angelman syndrome. They will also request genetic tests related to the disease, including:
  • Missing chromosomes.
  • Genetic mutation.
  • Parents DNA test.
There is no specific treatment for Angelman syndrome, but rather the therapeutic goal is to address the symptoms and problems associated with the disease through physical, behavioral, occupational, and speech therapy; medications to control seizures (if they occur), hyperactivity, and sleep; nutritional diets; and orthopedic treatment for cases of scoliosis. As there is no cure for this disease, periodic evaluations must be performed to assess the progress of treatment and avoid other complications. At the Pediatric Center, we provide specialized care to small patients from the moment of birth until they become adults, through our pediatric care, oncology, neurology, and cardiology services at the level of the best medical centers in the world.

Fuentes:

  • angelman.org
  • analesdepediatria.org
  • kidshealth.org
  • medlineplus.gov
  • mayoclinic.org
  • medigraphic.com
  • Núñez GG, Ramírez VN, Hernández LY, et al. Intervención logopédica en un caso con síndrome Angelman con la alternativa de comunicación extraverbal. Rev Cub de Med Fis y Rehab. 2017;9(1):1-11.
  • Cordero-Molina MF, Escribano-Röber G, Carvajal-Game M, et al. Síndrome de Angelman: Correlación y seguimiento electroencefalográfico. Rev Mex Neuroci. 2016;17(1):3-11.
  • Frenkel-Salamón M, Villarreal-López-Guerra G, Hirsch-Mogyoros R, et al. Síndrome de Angelman: Diagnóstico temprano. An Med Asoc Med Hosp ABC. 2002;47(3):171-174.
  • Faife ALC, Mayo CIV. Síndrome de Angelman. Rev Cubana Med Gen Integr. 2012;28(3):331-339.

						
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