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Down Syndrome

AP Anatomy and Physiology Research Project

Angie Nitto

on 28 March 2011

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Transcript of Down Syndrome

own Syndrome The Mongolism Disease Cure ystemic ystems affected: AKA: Trisomy Translocation Common Physical traits include: Once called Mongolism because the facial features of young victims seemed to resemble those of Asians upward slanting eyes
flat nose
small head
short, stubby hands
ears and teeth are small and abnormally shaped
babies tend to be unusually quiet, less responsive and weak
flat face
flat bridge of nose
smaller than normal, low-set nose
small mouth causing tongues to stick out and look unusually large
extra folds of skin at inside corner of each eye
rounded cheeks
small, wide hands
deep crease across center of each palm
malformed fifth finger
wide space between big and second toes
unusual creases on soles of feet
overly-flexible joints
shorter than normal height Circulatory -- the heart
defects often reduce flow of blood through body. number of different heart defects are common including abnormal openings (holes) in walls that separate heart chambers. Another heart defect is called Tetralogy of Fallot. This consists of a hole in the heart, along with 3 other major heart defects. Digestive System--Gastroinal (digestive) tract disorders Most common problem amoung babies is an obstruction (narrowing or closing) of upper part of intestine.
Most common malformation is a narrowed, obstructed duodenum. Lymphatic System--increased risk of infections ear infections
certain kidney disorders
thyroid disease
hearing loss
vision problems
greatly increased risk of leukemia Many affected individuals have:
low muscle tone (hypotonia)
excessive skin on back of neck
unusually short arms and legs
short fingers
unusual skin ridge patterns on fingers, palms, and toes
May also have:
short stature
poor cordination
mild to severe intellectual disability
hearing impairment iag sis No But treatment for symptoms For Example:
surgery can repair heart defects
eyeglasses and hearing aids can help with vision and hearing problems Diagnosis is often made at birth when physical signs are noted blood or skin sample is taken from child which is then stained with a special chemical that makes chromosomes visible. Chemicals are added to prompt the cells to go through normal development, up to the point where the chromosomes are most visible, prior to cell division. Photographs are used to confirm Down Syndrome because of extra chromosome (trisomy). Prevention Only procedure:
genetic counciling Tests: use of Alpha-fetoprotein (AFP)
unusually high or low levels can indicate problems with the pregnancy. Can acurately predict presence of Down's Syndrome 60% of time Two tests are much more acurate: 98-99% Amniocentesis:
long needle is used to remove a sample of amniotic fluid Chorionic Villus Sampling (CVS)
tiny tube used to remove a small sample of placenta By knowing if the baby has Down Syndrome before it is born, the only prevention would be to abort the baby. LEAH My seven-year-old cousin has Down's Syndrome She was born on August 15, 2003 We did not know that she had Down's Syndrome until she was born; We were told by the doctors. Leah's Down Syndrome is caused by trisomy. Fortunately, Leah did not have any heart problems! However she did have a problem swallowing--she would choke every time that she would drink something thin. So we were constantly putting "Thicket"
(a thickener) in her drinks. She goes to public school in the city, and is in the first grade. She is so kind and considerate, and is extremely funny. I can't imagine life without her, and I don't even want to think what could have happened if my Aunt prevented her pregnancy if she knew that her daughter would be born with Down Syndrome Ever Since the day that she was born, she's had physical and speech therapists working with her. Since speech is delayed, Leah was taught Sign Language D
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