International Down Syndrome Day is celebrated on March 21, in order to raise awareness about genetic alteration – which is not a disease.
A CNN Radio the pediatric endocrinologist at Elo 21 – which is an Advanced Center for Genetics and Integrative Health that works with people with the syndrome – Aleksandro Ferreira explained how it manifests itself.
“We have numbered chromosomes, which are the cake recipe for our formation, trisomy 21 is nothing more than, instead of having two chromosomes 21, having three, which determines the genetic condition”, he said, during CNN No Plural .
The specialist points out that the term Down Syndrome, although not wrong, has been left aside in favor of T21 or Trisomy 21, due to the fact that “down”, in English, has a negative connotation, of “down”.
According to Aleksandro Ferreira, an individual with T21 may have physical differences, such as a rounded face shape and more slanted eyes, in addition to the “single crease in the hand.”
Even so, he says that these characteristics vary, as well as the possibility of intellectual disability, learning, and motor issues, with weaker muscles.
The doctor celebrated the fact that early treatment, with care from the mother’s womb, provides “huge change and improvement in conditions”, especially with regard to autonomy.
“We have broken new ground, medicine has changed a lot, adults with Down Syndrome arrive in better conditions and overcoming issues that previously seemed definitive.”
The endocrinologist said that there are patients “who are working, married, living alone, finishing higher education, all of this was previously believed to be impossible, but the last generations have been carrying out very different activities”.
*Produced by Isabel Campos
Source: CNN Brasil

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