10 THINGS YOU NEED TO KNOW ABOUT DOWN SYNDROME
1)Down syndrome is not a disease, it is a condition which occurs when an individual has a full or partial copy of chromosome 21...
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The chromosomes are rod-like structures in which genes are grouped in. And genes carries the codes responsible for all inherited traits.
2)The additional genetic material in chromosome 21 alters the course of development and causes the characteristics associated with Down syndrome.
3)Down syndrome is most likely to occur with advanced maternal age (from 35yrs and above). 1 in 100 women who are age 40, 1 in 30 women who are age 45 are likely to have this incidence. There is more than 100 thousand cases of Down syndrome per year in Nigeria.
4)Other causes of Down syndrome which are not related to maternal age include: Translocation(chromosomal rearrangements) which accounts for 4% of the Down syndrome cases and Mosaicism which is very rare and accounts for about 1%.
5)Approximately 1 in every 700 children in the United States are born with this syndrome.
6)Clinical features of this condition include:
Characteristic flat faces appearance with slanting eyes ( resembling the Mongolian race, which earned it one of its name, “Mongolism”).
Broad hands with short fingers and a single cress across the palm. Malformed ears, eyes with speckled iris, short stature and weak muscle tone(hyptonia). Though clinical features varies with different individuals with the syndrome.
7)Individuals born with the syndrome are very fragile, some show a degree of cognitive or intellectual disability. There is 40-50% chance of heart defect and other structural malformations and abnormalities like deafness .
8)Different prenatal testing exist for early detection of the syndrome like
AMNIOCENTESIS:
It involves the withdrawal of a sample of the amniotic fluid surrounding a fetus in the uterus by piercing the amniotic sac through the abdominal wall, under ultrasound guidance.
Amniocentesis is usually performed at any time from the 15th completed wk of gestation. It carries 1-2% risk of miscarriage. So with this, parents can plan ahead and decide on what best to do.
9)The condition can only be managed, management of this syndrome include :
•Improvement of the health of the child by giving the child standard immunization.
•Putting the child in well child care
•Thyroid hormone is usually administered to them to help in their body’s metabolism.
10) It is called Down syndrome because it was Langdon Down, an English physician, who published the first accurate description of a person with such condition, in the 19th century. Jerome Lejeune, a French physician was the one who identified...
Down syndrome as a chromosomal condition in 1959. Instead of 46 chromosomes present in each cell, he observed 47 in the cells of individuals with Down syndrome.
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Individuals with this condition shouldn’t be made to feel any less of a human. They are humans too and they are to be treated with love and care. Calling them hurtful names like “imbecile” and the rest is totally wrong.
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