Summer BanksDown syndrome
November 10th 2006 05:36
Down syndrome :
Down syndrome is a congenital (present at birth) disorder characterized by varying degrees of mental retardation and a variety of physical abnormalities.
Cause :
Normally, each cell in the human body has 46 chromosomes; the cells in someone with Down syndrome, however, have 47. In ways not yet known, the presence of the extra chromosome causes all of the unusual characteristics of Down syndrome. In 95 percent of cases, the condition is called trisomy 21 (because the extra chromosome is attached to the 21st pair of chromosomes), and the mistake in genetic coding is one that apparently could happen to anyone.
Symptoms :
Down syndrome is marked by a number of physical characteristics: somewhat slanted eyes in small sockets (which is why it used to be called mongolism); a small, short head, flattened in back and front; a nose flattened at the bridge; a thick tongue; short hands, feet, neck, trunk, arms, and legs; a single, rather than a double, crease across the top of the palm; flabby arms and legs with poor muscle tone; a wide gap between the first and second toes; and generally retarded physical development.
A child with Down syndrome may have a poorly functioning thyroid gland (which regulates metabolism, the rate at which the body uses energy) and pituitary gland (which regulates other glands, including those responsible for growth, maturation, and reproduction). Children with Down syndrome are at much higher risk of developing leukemia, and approximately one-third of them are also especially susceptible to infection.
Prevention :
Prospective parents can reduce their chances of having a child with Down syndrome by starting their families early. At age 20 a woman's risk of giving birth to a child with Down syndrome is only 1 in 2,000 live births, but at age 35 the risk is 1 in 300, at age 40 it is 1 in 100, and at age 45 it is 1 in 40 live births. The age of the father also has some bearing on the risk, but not as much as the age of the mother. Diagnosis of Down syndrome can be made between weeks 16 and 18 of pregnancy through a procedure called amniocentesis.
Down syndrome is a congenital (present at birth) disorder characterized by varying degrees of mental retardation and a variety of physical abnormalities.
Cause :
Normally, each cell in the human body has 46 chromosomes; the cells in someone with Down syndrome, however, have 47. In ways not yet known, the presence of the extra chromosome causes all of the unusual characteristics of Down syndrome. In 95 percent of cases, the condition is called trisomy 21 (because the extra chromosome is attached to the 21st pair of chromosomes), and the mistake in genetic coding is one that apparently could happen to anyone.
Symptoms :
Down syndrome is marked by a number of physical characteristics: somewhat slanted eyes in small sockets (which is why it used to be called mongolism); a small, short head, flattened in back and front; a nose flattened at the bridge; a thick tongue; short hands, feet, neck, trunk, arms, and legs; a single, rather than a double, crease across the top of the palm; flabby arms and legs with poor muscle tone; a wide gap between the first and second toes; and generally retarded physical development.
A child with Down syndrome may have a poorly functioning thyroid gland (which regulates metabolism, the rate at which the body uses energy) and pituitary gland (which regulates other glands, including those responsible for growth, maturation, and reproduction). Children with Down syndrome are at much higher risk of developing leukemia, and approximately one-third of them are also especially susceptible to infection.
Prevention :
Prospective parents can reduce their chances of having a child with Down syndrome by starting their families early. At age 20 a woman's risk of giving birth to a child with Down syndrome is only 1 in 2,000 live births, but at age 35 the risk is 1 in 300, at age 40 it is 1 in 100, and at age 45 it is 1 in 40 live births. The age of the father also has some bearing on the risk, but not as much as the age of the mother. Diagnosis of Down syndrome can be made between weeks 16 and 18 of pregnancy through a procedure called amniocentesis.
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