About Down Syndrome

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Down Syndrome

What does Down syndrome mean?

Down syndrome is a genetic condition. It is not an illness or a disease. Down syndrome occurs when an individual has a full or partial extra copy of chromosome 21. People with Down syndrome commonly have 47 chromosomes in their cells instead of 46.

Down syndrome is the most commonly occurring chromosomal condition being universally present across racial, gender or socioeconomic lines in approximately 1 in 700 live births, although there is considerable variation worldwide.

Down syndrome usually causes varying degrees of intellectual and physical disability and associated medical issues.

How does Down syndrome occur ?

Down syndrome usually causes varying degrees of intellectual and physical disability and associated medical issues.

What are the types of Down syndrome?

Trisomy 21 (nondisjunction):

The fetus takes a third copy of chromosome 21 instead of two copies, in which chromosome 21 repeats three times instead of twice so that the number of chromosomes is 47 instead of 46 in each cell, and this type accounting about 95% of cases and it is the most common type in cases of Down syndrome.

Translocation:

In this case, chromosome number 21 is division and attached to another chromosome, typicallyto chromosome 14, and the total number of chromosomes is 46, and this type accounting about 4% of cases of Down syndrome, half of which is hereditary and the other half is genetic.

Mosaicism:

In this type, there are two types of cells, some of which contain the normal number of chromosomes, that is 46, while others contain 47 chromosomes, and this type represents about 1% of cases of Down syndrome.

Characteristics of people with Down syndrome ?

Common Characteristics and Congenital Features associated with Down syndrome:

Small skull, round faces, an upward slant to the eyes, small nose, large tongue, small mouth size, low muscle tone, a single deep crease across the center of the palm, and as continue to growth the child tend to be obese and short stature, individual differences should be taken into consideration since each individual with Down syndrome is unique and may possess these characteristics to different degree.

Developmental and health challenges:

There are many health problems that people with Down syndrome may have, congenital heart defects, frequent infections, especially in the respiratory system, ear and eyes, nutrition problems, weak immunity system, fertility, obesity, cervical spine instability, endocrine and others

Cognitive challenges:

People with Down syndrome experience cognitive delays, taking into consideration that their acquisition and cognitive development is slower than others, learning process depends on stimulating them and giving them sufficient time to learn skills taking into account individual differences.

Is Down syndrome hereditary?

Down’s Syndrome is not considered hereditary in the conventional sense. As a result of the general frequency of this disorder, it is not strange to find one or more relatives who have Down’s Syndrome. However, there is a rare type of Down’s Syndrome which is caused by a defect in the chromosomes of one of the parents and this type is genetic and may occur later in the family line

What is the incidence rate?

One in every 700 babies is born with Down syndrome

How does it happen? Am I the cause?

No!… Dear Parents, you are not the reason, it’s the power of God in us. Despite the progress of science and medicine, we cannot prevent it because the reason behind the cell division in chromosome 21 during the formation of the fetus is not yet known.

Is my child going to learn?

Your child definitely would learn like any other child, he only needs flexible and simple learning programs along with a lot of love, patience and determination, and in the end he might end up graduating from high school and getting a lot qualificationsand certificates from technical and specializedinstitutions.

What about his skills and abilities?

There is no doubt that people with Down syndrome don’t have the same abilities as their peers, however early intervention programs havepositive impact on evolving and improving their skills and abilities.

Generally people with Down syndrome are able to maintain normal lives since a young age, they have social connections and personal interests such as music and art.With the family’s and the association’s support and perseverance into keeping up with the child’s health, education and social progress, the child might be more willing and motivated to flourish his abilities and skills.

And with investing the time and the effort in helping people with Down syndrome be more competent and independent we might also find the perfect role that the individual can participate in.