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Josie: Down Syndrome

Page history last edited by Josie A 6 years, 11 months ago

Down Syndrome

Otherwise know as trisomy 21

 

Down syndrome is caused when an extra copy chromosome 21. This results in a person having 47 chromosomes instead of the usual 46. 

 

Genetic Disorders 

A genetic disorder is a disorder or disease that is caused by an abnormality or a modification in the genes or chromosomes being passed from mother/father to offspring. Genetic disorders are most likely inherited genetically but not always. Sometimes it is caused by new mutations to the chromosomes of the offspring. Down Syndrome is not inherited it is a modification of a chromosome, there is an extra copy of chromosome 21 meaning that a person who has Down Syndrome will have 47 chromosomes instead of 46.

 

History of Down Syndrome

In 1866 John Langdon Down wrote an article about kids with similar characteristics and the same physical and metal slowness in there development. He first named this condition "monogolism". The attitudes toward people with Down Syndrome were tied to racism and colonialism until the 1970. Not until recently in the last century did people start to consider Down Syndrome as a mental disability. Most people with Down Syndrome were institutionalized but lots of there medical need were not met and they ended up dying.

 

Symptoms

Down Syndrome or Trisomy 21

  • Short- children with Down Syndrome grow slower and and adults will be shorter than average
  • Weak muscle- muscle will be weaker, stomach will stick out because of the weak muscles
  • Shot wide neck- may hold excess skin as well  
  • Short arms and legs- may also have big gap between big toe and the second toe
  • Slanted eyes
  • Small ears
  • A nose that looks pushed in
  • Tongue may partly stick out 
  • Irregular shaped mouth- roof of moth may be long and narrow
  • Crooked teeth- teeth come in later and in a different order than regular

 

 

How People with Down Syndrome Are Affected

  • Depression
  • Mentally slower to develop 
  • Physically slower to develop 
  • Hypothyroidism- Condition when the thyroid gland doesn't produce enough thyroid hormones
  • Celiac disease 
  • Eye conditions
  • Poor judgment
  • Short attention span 
  • Heart disease  
  • Seizure disorders 


Treatment 

Down Syndrome can not be cured although people living with Down Syndrome can receive medication for some of the conditions they are living with such as anti-seizure medication and thyroid replacement medications. Also people with Down Syndrome go for regular their bodies are functioning healthily. People living with Down Syndrome also as part of there treatment can attend therapy. There are two types of therapy that can help people with Down Syndrome.

Speech Therapy- Teaches them how to communicate clearly, this is hard for them because of there shape of mouth

Physical Therapy- Helps them be mobile and gain muscle mass

People with Down Syndrome and there caregiver may also choose to got to counselling and support groups for the emotional portion of this disability.

 

Emotional Affects

People living with Down Syndrome are faced with a lot, people tend to stereotype them as not smart or don't have emotions. Even if this was true this is no excuse to treat them with any less respect or not be friends with them. People living with Down Syndrome often are made fun of for the slowness mentally and physically developing. It is hard for the caretakers/parents and child with Down Syndrome because they are dealing with the emotional aspects of the Disorder. They go to counselling and support groups to help deal with this.

 

Gene Therapy

Gene Therapy is an experiment that can alter genes to prevent or treat a disease. This may allow doctors in the future to treat a disorder without medication or surgery.

 

 

How Gene Therapy Works

A gene can not just be inserted into the body if you want it to function so instead a vector (carrying the gene) will be genetically programmed to deliver the gene. The new gene will be there to:

 

  • Replace a mutated gene with a healthy copy- this will prevent disorders and diseases
  • Getting rid of a mutated not functioning gene 
  • Placing a new gene in the body to help fight diseases

Gene therapy has not yet been used on people who have Down Syndrome, but in the future it could be possible. People have been experimenting with the idea of treating Down Syndrome with Gene Therapy.

 

Famous People Who Have Down Syndrome

 

 

Lauren Potter of "Glee" (Getty Images)

 

Lauren Potter- Actor starring on "Glee"                                                                           Zhou Zhou- a famous conductor 

 

 

BIBLIOGRAPHY:

http://www.globaldownsyndrome.org

http://www.news-medical.net

http://children.webmd.com

http://bodyandhealth.canada.com

http://down-syndrome.emedtv.com

http://ghr.nlm.nih.gov

http://www.genome.gov

 

Pictures:

1) http://thetwentyfirstchromosome.wordpress.com

2) http://www.doctortipster.com

3) http://www.parents.com

4) http://www.lifeofguangzhou.com

 

 

 

 

 

 

 

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