WHAT IS THE DISORDER?Down synrome was named after John Langdon Down. ( the birtish doctor who first described this condition in 1887). Doctors can tell when a child has down syndrome when it recieves an extra 21st chromosome which makes them have 47 chormosomes instead of 46. SYMPTOMS AND EFFECTSThe condition Down syndrome is associated with some impairment of cognitive ((Latin: cognoscere, "to know" or "to recognize") refers to a faculty for the processing of information applying knowledge, and changing preferences) ability and physical growth as well as facial appearance. Down syndrome in a baby can be identified with amniocentesis (is a medical procedure used in prenatal diagnosis of chromosomal abnormalities and fetal infections in which a small amount of amniotic fluid, which contains fetal tissues, is extracted from the amnionor amniotic sac surrounding a developing fetus and the fetal DNA is examined for genetic abnormalities) during pregnancy or at birth. Many of the common physical features of Down syndrome also appear in people with a standard set of chromosomes. They may include a single transverse palmar creas (a single instead of a double crease across one or both palms, also called the Simian crease), an almond shape to the eyes caused by an epicanthic fold ( a skin fold of the upper eyelid ) upslanting palpebral fissures (the separation between the upper and lower eyelids), shorter limbs, poor muscle tone, a larger than normal space between the big and second toes, and protruding tongue. Health concerns for individuals with Down syndrome include a higher risk for congenital heart defects, gastroesophageal reflux disease,recurrent ear infections, obstructive sleep apnea, and thyroid dysfunctions.
Single tranverse palmar crease in an adult
Normal palmar creases in an adult
TREATMENTBecause there is no cure, the goals of Down syndrome treatment are to control symptoms and manage any resulting medical conditions. This includes regular checkups and screenings, medications, and surgery. Counseling and support groups are also aspects of treatment for those who need help in coping with the emotional and practical aspects of Down syndrome.
STATISTICS -1 out of every 800 babies are born with down syndrome.
-Down syndrome is a chromosomal condition that is associated with intellectual disability that is usually mild to moderate, a characteristic facial appearance, and poor muscle tone (hypotonia) in infancy.
-People with Down syndrome may be born with a variety of birth defects. About half of all affected children have a heart defect. Digestive abnormalities, such as a blockage of the intestine which are less common.
-Individuals with Down syndrome have an increased risk of developing several medical conditions. These include gastroesophageal reflux, which is a backflow of acidic stomach contents into the esophagus, and celiac disease, which is an intolerance of a wheat protein called gluten. About 15 percent of people with Down syndrome have an underactive thyroid gland (hypothyroidism). The thyroid gland is a butterfly-shaped organ in the lower neck that produces hormones. Individuals with Down syndrome also have an increased risk of hearing and vision problems. Additionally, about 1 percent of children with Down syndrome develop cancer of blood-forming cells (leukemia).
-Adults with Down syndrome have an increased risk of developing Alzheimer disease, a brain disorder that results in a gradual loss of memory, judgment, and ability to function. Although Alzheimer disease is usually a disorder that occurs in older adults, about half of adults with Down syndrome develop this condition by age 50.
-Down syndrome effects people from all enthnic groups and cultures.
OTHER INFORMATION
Having a child with Down's syndrome is more likely if a woman already has a child with the syndrome, or if a close family member has had an affected child. But most cases are sporadic (the parents aren't affected) and the risk of recurrence in further pregnancies is very small.
DOWN SYNDROME
WHAT IS THE DISORDER? Down synrome was named after John Langdon Down. ( the birtish doctor who first described this condition in 1887).
Doctors can tell when a child has down syndrome when it recieves an extra 21st chromosome which makes them have 47 chormosomes instead of 46.
SYMPTOMS AND EFFECTSThe condition Down syndrome is associated with some impairment of cognitive ((Latin: cognoscere, "to know" or "to recognize") refers to a faculty for the processing of information applying knowledge, and changing preferences) ability and physical growth as well as facial appearance. Down syndrome in a baby can be identified with amniocentesis (is a medical procedure used in prenatal diagnosis of chromosomal abnormalities and fetal infections in which a small amount of amniotic fluid, which contains fetal tissues, is extracted from the amnionor amniotic sac surrounding a developing fetus and the fetal DNA is examined for genetic abnormalities) during pregnancy or at birth. Many of the common physical features of Down syndrome also appear in people with a standard set of chromosomes. They may include a single transverse palmar creas (a single instead of a double crease across one or both palms, also called the Simian crease), an almond shape to the eyes caused by an epicanthic fold ( a skin fold of the upper eyelid ) upslanting palpebral fissures (the separation between the upper and lower eyelids), shorter limbs, poor muscle tone, a larger than normal space between the big and second toes, and protruding tongue. Health concerns for individuals with Down syndrome include a higher risk for congenital heart defects, gastroesophageal reflux disease,recurrent ear infections, obstructive sleep apnea, and thyroid dysfunctions.
Single tranverse palmar crease in an adult
Normal palmar creases in an adult
TREATMENT Because there is no cure, the goals of Down syndrome treatment are to control symptoms and manage any resulting medical conditions. This includes regular checkups and screenings, medications, and surgery. Counseling and support groups are also aspects of treatment for those who need help in coping with the emotional and practical aspects of Down syndrome.
STATISTICS -1 out of every 800 babies are born with down syndrome.
-Down syndrome is a chromosomal condition that is associated with intellectual disability that is usually mild to moderate, a characteristic facial appearance, and poor muscle tone (hypotonia) in infancy.
-People with Down syndrome may be born with a variety of birth defects. About half of all affected children have a heart defect. Digestive abnormalities, such as a blockage of the intestine which are less common.
-Individuals with Down syndrome have an increased risk of developing several medical conditions. These include gastroesophageal reflux, which is a backflow of acidic stomach contents into the esophagus, and celiac disease, which is an intolerance of a wheat protein called gluten. About 15 percent of people with Down syndrome have an underactive thyroid gland (hypothyroidism). The thyroid gland is a butterfly-shaped organ in the lower neck that produces hormones. Individuals with Down syndrome also have an increased risk of hearing and vision problems. Additionally, about 1 percent of children with Down syndrome develop cancer of blood-forming cells (leukemia).
-Adults with Down syndrome have an increased risk of developing Alzheimer disease, a brain disorder that results in a gradual loss of memory, judgment, and ability to function. Although Alzheimer disease is usually a disorder that occurs in older adults, about half of adults with Down syndrome develop this condition by age 50.
-Down syndrome effects people from all enthnic groups and cultures.
http://video.about.com/pediatrics/Down-Syndrome.htm
OTHER INFORMATION
Having a child with Down's syndrome is more likely if a woman already has a child with the syndrome, or if a close family member has had an affected child. But most cases are sporadic (the parents aren't affected) and the risk of recurrence in further pregnancies is very small.
http://en.wikipedia.org/wiki/down_syndrome
http://down-syndrome.enedtv.com/down-syndrome/treatment-for-down-syndrome.html
http://ghr.hlm.nih.gov/condition=downsyndrome|http://down-syndrome.enedtv.com/down-syndrome/treatment-for-down-syndrome.htmlhttp://ghr.hlm.nih.gov/condition=downsyndrome
pictures-
http://en.wikipedia.org/wiki/file:downsyndrome_karyotype.png
www.foietlumieie.org/site/im_user/001elie.2jpg.jpg
http://en.wikipedia.org/wiki/single_tiansverse_palmar_crease