quinta-feira, 7 de fevereiro de 2013

Down Syndrome

Down syndrome is a chromosomal, i.e., a disease caused by a change in the number of chromosomes disturbance caused by a problem on chromosomes - chromosomes are structures formed by DNA (abbreviation desoxorribonucleico acid, or in English, DNA) containing genes or "instructions" to the growth and development of living beings. Down syndrome affects about 1 in every 800 newborns.
Normally, humans have two copies of each chromosome. People with Down syndrome usually have three (rather than two) copies of chromosome 21, which is why this amendment is also called trisomy 21 ("three chromosomes 21"). In rare cases, the genetic material in excess is not an entire chromosome 21 but part of chromosome 21 attached to another chromosome (translocation). It may also happen that the extra chromosome is found only in some of the cells of the person (mosaicism).
The extra DNA is responsible for the physical and mental characteristics of Down syndrome, which include: face and nape (back of head) flat, slanted eyes, small skin folds extra in the corners of the eyes, ears, nose and mouth small; language large, short stature, small hands and feet, and mental retardation, with a varying severity.

Treatment
There is no treatment to nullify the genetic abnormality that causes Down syndrome. However, many of the medical problems and associated development can be treated to improve child development and increase their hope and quality. Evaluation and planning of the treatment regimen for a child with Down syndrome can involve the collaboration of multiple health professionals.
There may be need for surgery for gastrointestinal or heart problems. Physical therapy and special education services integrated help children with Down syndrome to make the most of their skills and achieve their potential. In general, children with Down syndrome respond well to sensory stimuli, exercises to help control muscle activities and to enhance their mental development. The school helps children with Down syndrome learn social skills, academic and physical that can enable them to achieve a level of functioning and independence highest.

Prevention
There is no way to prevent Down syndrome. However, it is known that the probability of having an affected child increases with increasing age of the mother. According to the age of the child and other risk factors assessed by the physician, will be offered to pregnant women screening tests (biochemical and / or ultrasound) or methods of prenatal diagnosis (chorionic villus biopsy or amniocentesis). These provide help to have a better idea of
​​the risk for having a child affected or even, in the case of amniocentesis and chorionic villus biopsy, indicated during pregnancy or if the fetus is not affected in Down syndrome .. Should be pregnant to decide, after due clarification of strengths, limitations and risks of testing, whether or not to perform screening tests / prenatal diagnosis and, if so, what tests to perform.
The couples who has been a pregnancy affected by Down syndrome may have a greater likelihood of having another baby with this change. In these cases, genetic testing the child with Down syndrome or to allow members of the couple help determine the risk to their offspring in a future pregnancy.

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