Down syndrome is a genetic condition that is caused by the presence of an extra chromosome 21 (trisomy 21). In this case, the person has three chromosomes 21 in their cells instead of two. It is the most frequent chromosomal alteration in the human species.
Currently, 25 children with Down syndrome are born in Chile for every 10,000 live births, which is equivalent to about 500 children a year and constitutes the highest rate in the region.
In most cases, Down Syndrome cannot be prevent or predicted, although the greatest risk factor for this condition is the mother’s age. If in women under 30 it occurs in one in 1,000 pregnancies, in women over 40 it increases to one in 100.
There is also a very low risk of it being produced by a family history, since there are some trisomy conditions that can be inherited and are present in 3% of children with Down syndrome.
How is it identified down syndrome?
In general, people with Down syndrome have a number of recognizable physical characteristics, mild or moderate cognitive impairment, and certain health problems associated with trisomy 21.
Among the most frequent physical characteristics are:
- Hypotonia or decreased muscle tone (“limp” children).
- Excessive joint flexibility (hypermobility).
- Eyes slanted upward or “slanted”.
- Wide and short neck.
- Protruding tongue
- Flatter bridge of the nose.
- Smaller ears.
- Wide and short hands, with a unique transverse palmar crease.
- “Feet in sandal” (big toe a little further apart).
In the social aspect, they are usually very friendly, cheerful, empathetic and affectionate. In addition, they are easy to maintain routines, they are persistent and they have good visual memory.
The clinical diagnosis is usually made based on the appearance of the newborn and is later confirmed with a study called a karyotype, which analyzes the chromosomes through a blood sample.
People with Down syndrome can have various health complications such as heart problems (congenital heart disease) and thyroid gland function, obesity, high cholesterol, diabetes, dental abnormalities, and hearing and eye defects. On the other hand, unlike the general population, adult men have a longer survival than women. Those with this condition are more protected against some types of cancer, acute myocardial infarctions and hypertension.
Thanks to advances in medicine, their life expectancy increased from 9 years in their 40s, to 60 years or more today, while survival after one year grew to 93%.
“Like the rest of the children, those with Down Syndrome need periodic check-ups and constant supervision to identify possible health problems that may limit the maximum development of their potentialities,” explains Dr. Paola Amador, child physiatrist and professional of the Program. Comprehensive for Children with Down Syndrome from Clínica Dávila .
On this last point. The importance of early stimulation stands out. Which must begin from the month of birth, after the initial attachment work, and continue permanently throughout their lives.
The expert also emphasizes that development depends on working with different specialists according to their needs. That it starts with a family pediatrician. Accompanied by a team that includes specialists in physiatry, pediatric cardiology. As well as professional kinesiologists therapists. Occupational and speech pathologists.
“We must approach stimulation in a comprehensive and early way, with a preventive anticipatory approach. Not from rehabilitation once children are already significantly behind in their psychomotor development. They will continue to learn, at their own pace, throughout their lives. They have a lot of potential to take advantage of. It is expect that most of them will be insert in the school system. Will learn to read and write, will work and interact with peers. Friends, achieving great autonomy and independence, ”says Dr. Amador.
Clínica Dávila has developed a Comprehensive Program for Children with Down Syndrome. Made up of a complete multidisciplinary team that welcomes. Accompanies the family during all stages of the child’s development.
Some important concepts
- There are no “grades” of Down Syndrome. You only have it or you don’t.
- It is not a disease, it is a condition.
- They are not “blessings” or “angels”, they are children.
- They have the right, like all other children, to have the opportunity to develop their full physical, emotional and cognitive potential.
If you have a query or question about our Comprehensive Program for Children with Down Syndrome, write to us at firstname.lastname@example.org
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