Down Syndrome

What is Down syndrome?

Down syndrome is a genetic disorder in which the affected person has an extra chromosome, 47 chromosomes instead of 46. It is a lifelong condition, causing physical and cognitive symptoms.

Symptoms of Down syndrome

The symptoms of Down syndrome vary in each patient depending on the degree of involvement, with mild and severe patients. In general, those affected by this syndrome have certain common physical features, such as a smaller head, small mouth and ears, rounded inner corners of the eyes and shorter arms and hands. Their height development is also affected.

In terms of cognitive symptoms, Down syndrome patients are affected mainly in their learning and behavior. The main mental symptoms are:

  • Slow learning
  • Problems in maintaining attention
  • Impulsive behavior
  • Problems with discernment and comprehension

Down Syndrome patients may also have health problems such as:

  • Hearing problems
  • Heart disease
  • Dementia
  • Vision problems and cataracts
  • Chronic constipation
  • Sleep apnea
  • Hypothyroidism

Causes of Down syndrome

Down syndrome is caused by a copy of chromosome 21, so that the patient has 47 chromosomes instead of 46. The presence of this duplicated chromosome presents problems in body and brain development.

Prevention of Down syndrome

A person’s risk of Down syndrome can be prevented before birth. People with a family history and women who become pregnant at age 35 or older have a higher risk of having a child with Down syndrome.

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There are prevention tests such as amniocentesis that predict in the fetus during the first months of pregnancy whether it will be born with Down syndrome.

Treatment of Down syndrome

There is no cure or treatment for Down syndrome, but patients with this syndrome require frequent check-ups to treat the health problems it entails, such as heart disease or intestinal problems. It is also essential that children with Down syndrome receive support in their education and learning.