What is a genetic disorder
A genetic disorder is when a disease is passed down through generation. Down syndrome is a genetic mutation but it is still a disorder.
History
The history of down syndrome is a condition of having an extra copy of chromosome 21, so instead of having the "normal" 46 chromosomes, people with down syndrome have 47. Just over fifty years ago the disability was called mongolism. People lving with it were put in asylums, shunned as well as placed in institutions. Down syndrome is the most common chromosomal condition. There are more than 400 000 people living in the United States with down syndrome.
Symptoms
Short stature (height): children may take a longer time to grow or be shorter as an adult
Weak muscles: stomach may stick out more than usual
Stocky legs and arms: extra fat on legs and arms
Slanted eyes
Irregulary tounge and mouth shape
Depression
Heart deffects
Treatments and side affects of treatments
Down syndrome is a disorder that cannot be cured or treated. However the complications that may come along with down syndrome can be treated. Such as physio for muscle complications. As well as needing to receive extra help with the brain in school and other activites. Heart defects can be treated with certain medications depending on the defect.
Gene Therapy
Gene therapy cannot be used to cure down syndrome. Gene therepy is used to alter the genetic code. Down sydrome is not based on the genetic code it is based on the extra pair of chromsome 21.
Facts:
- When there are 47 chromosomes instead of 46
- Can ranger from mild-severe
- Genetic condition, causes delay in physical and brain development
- Most frequent chromosome disorder
Diagnoses:
- At birth or shortly after
- Diagnosed usually by physical features
- chromosomes may be examined by examaning blood or tissue
Cause:
- error in cell devision
- not related to anything during pregnancy
Health Issues
- more than just "normal" childhood illness
- approx. 40% of children with down syndrome have congenital heart defects
- vision and respiratory problems
- more prone to infection
http://www.nads.org/pages_new/facts.html
http://www.cbc.ca/books/2011/11/dr-david-wright-and-the-history-of-down-syndrome.html
http://children.webmd.com/tc/down-syndrome-symptoms