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Down Syndrome

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Camille Baut

on 8 October 2015

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Transcript of Down Syndrome

Intellectual & Developmental
Characteristics of
Can benefit from...
Speech therapy
Occupational therapy
Exercises to help improve motor skills

They might be helped by special education and attention at school

Some of the medical problems common in people with Down Syndrome, like cataracts, hearing problems, thyroid problems, and seizure disorders, can be also treated or corrected.
What is Down Syndrome?
Etiology of Down Syndrome
Down Syndrome
- Christina, Camille, Giselle, Esma, Maria
There is no cure for down syndrome

Early treatment can help children who have down syndrome live a more productive lifestyle and into adulthood

It has been suggested that children with Down Syndrome might benefit from medical treatment that includes amino acid supplements and a drug called Piracetam
Piracetam is a drug that some people believe may improve the ability of the brain to learn and understand. But there have been no controlled clinical studies with Piracetam to date in the U.S. or anywhere else that show its safety and success.
Treatments are based on each individual's physical and intellectual needs as well as his or her personal strengths and limitations.
Madeline Stuart
She is an 18 year old aspiring model from Australia with Down Syndrome.
She never gave up on her dreams and lost 40 pounds by dancing, swimming, and cheerleading. With the help of her mother, she was able to make her dreams a reality.
Her mother quotes, “Things were a lot different 18 years ago. I remember having her in a stroller when she was a baby and small-minded people telling me she should not be out in public.”
After having her first professional photo shoot, her mother decided to create a public profile on Facebook called Madeline Stuart, and within a week her photos were viral. So many people said she was an inspiration. She gave people hope that their children living with Down Syndrome could achieve anything they set their mind to.
Since then Madeline has walked the catwalk in New York for auto immune awareness, and will be modeling at the 2015 New York Fashion Week. She has become the face of a cosmetic company called Glossigirl, which makes her the first model with a disability. She is now known as the first professional adult model with Down Syndrome in the world.
She has been nominated for Pride of Australia and the Young Australian of the Year Award. She will also be receiving Model of the Year Award at Melange 2015 in San Francisco.
Madeline wants to change the way people discriminate against disability and wants people to know that Down Syndrome is a blessing and it’s something to be celebrated.
Personal Stories
Just like many people with Down Syndrome, Madeline also struggled with her weight for a long time, and last year she decided to get healthy and chase after her dreams of becoming a model.
Prognosis &Treatments in DS
Incidents and Life Expectancy
Incidents in the USA
Down syndrome is considered the most common Chromosomal condition in the USA
1 in 691 babies are born with it
More than 400,000 people live with it in the USA
Incidents in the World
Most data in regards to world population is extrapolation
The estimated numbers for the world from 2004 are:
75,338 in the United Kingdom
1,623,559 in China
24,891 in Australia
1,331,338 in India
These are based on ratios and census reports of general population and rarely actual reports of having it
Down Syndrome varies between all kinds of ethnicities, but the most common has been in hispanic babies
Life Expectancy
Life expectancy used to be incredibly low, averaging at 25 y/o in 1983
More recently it has been averaged at 60 y/o depending on health complications
Back in the early 1900s some would not live past 10 y/o
Lori Ferrando was born with down syndrome on September 25, 1969

She is now 45 years old and is living a happy life.

Every day she attends her Zumba classes as well as attending activities with a group of individuals who also have down syndrome.

Although she is 45 years old, she acts as though she is a nine year old girl.
She is obsessed with the movie Frozen and will watch the Disney Channel on a daily basis.

She is also an Olympian in the Special Olympics, and always comes home with medals around her neck.

On the weekends you can find her riding her pink bike around the neighborhood.

Although she has certain struggles, she tries her hardest to have a positive attitude.

Down Syndrome. (2012, July 2). Retrieved September 17, 2015.

Down Syndrome. (n.d.). Retrieved September 17, 2015.

Down Syndrome Facts. (2014, December 31). Retrieved September 16, 2015.

Down Syndrome Treatment. (n.d.). Retrieved September 17, 2015.

Maddy's Blog Archives - Madeline Stuart. (n.d.). Retrieved September 17, 2015, from http://www.madelinestuartmodel.com/category/blog/

History of the Special Olympics. (2015). Retrieved September 13, 2015, from http://www.specialolympics.org/history.aspx.

Pastva, M., Corwin, E., & Morin, K. (2004). Down Syndrome with an Unusual Etiology. Journal of the American Academy of Nurse Practitioners, 16(6), 244-250.

Statistics by Country for Down Syndrome. (2004, December 31). Retrieved September 16, 2015.

What is Down Syndrome? (n.d.). Retrieved September 16, 2015.
it is also called Trisomy 21: three copies of chromosome 21 rather than the usual 2 copies per cell

47 chromosomes rather than the typical 46

Cause #1: Nondisjunction
two chromosomes fail to separate after duplication
more common cause of down syndrome
can be seen/determined through amniocentesis
more common due to maternal age
Cause #2: Translocation
Rearrangement of genetic material

Part of chromosome 21 moves and fuses with another chromosome

Typically fuses with chromosomes 13, 14, 15, 18, 22, and sometimes 9

This fusing together of chromosomes is also called Robertsonian Translocation

This can occur with any maternal age

This cause is less common and is typically seen in about 5% of down syndrome cases

condition where the same individual has a different genetic make up, which can effect egg and sperm cells

extremely rare/ occurs in only 1% of down syndrome cases
Cause #3: Mosaicism:
Down Syndrome
Body shape and size
Short Stature (Height)L
A child often grows slowly and is shorter than an average adult.
Low Muscle Tone (Hypotonia)
throughout the body. Belly muscles with low muscle tone can make the stomach stick out.
A short, wide neck

may have excess fat and skin.
Short, stocky arms and legs.
Some children also have a wide space between the big toe and second toe.
Face shape and features
Slanted eyes.
The doctor may also notice small spots on the iris.
A nasal bridge that looks pushed in.

Small ears
that may be set low on the head.
Irregularly shaped mouths and tongues.
The child's tongue may partly stick out.
Irregular and crooked teeth.
Teeth often come in late and not in the same order that other children's teeth come in.
Cognitive impairment, problems with thinking and learning, is common in people with Down Syndrome and usually ranges from mild to moderate.

Cognitive and Behavioral problems include:
Short attention span
Poor judgment
Impulsive behavior
Slow learning
Delayed language and speech development

Most children with Down syndrome develop the communication skills they need. Early, ongoing speech and language interventions to encourage expressive language and improve speech are particularly helpful.

Can Down Syndrome be spotted?
Down syndrome can be identified during pregnancy by prenatal screening followed by diagnostic testing, or after birth by direct observation and genetic testing.

Prenatal screening includes:
ultra sonography
serum marker testing
genetic screening

Since the introduction of screening, pregnancies with the diagnosis are often terminated.

Cutting Edge Research...
LuMind partnered with the pharmaceutical company Roche in bringing a new drug designed to address the cognitive and behavioral deficits of Down syndrome to clinical trial.

Dr. Edgin is one researcher who believes that, as important as scientific breakthroughs are, increasing the understanding of people with Down syndrome among the general population is equally important. For example, Educating the public on down syndrome.
A future drug, for example, could target the neurons of Down Syndrome patients. With its corrective mechanism, the drug could help to raise IQ enough to allow these individuals enough mastery of reading, writing and arithmetic as well as reasoning and social skills, to enable them to, say, drive a car or to live and work independently
The Special Olympics was founded and created by Eunice Kennedy Shriver in the late 1950s and early 1960s

Her vision was to not dwell on what children with special needs could not do, but to focus on their own individual strengths
On July 20, 1968, the first International Special Olympics was held in Chicago Illinois

The turn out was astounding with over 1,000 special needs individuals in 26 states playing and competing in track and field, swimming, and floor hockey

In June 2003, 5,500 athletes participated in the Special Olympics in Ireland
In March 2013, the Special Olympics occurred in Bharat, India and it welcomed over one million registered athletes

As the years go by, more advances are being made to fight the injustices that individuals with down syndrome face on a daily basis
DS is a genetic abnormality. It is the most common single cause of birth defects in the United States.
Research includes the development of a novel anti-amyloid vaccine to prevent Alzheimer's disease in people with Down syndrome, which is due to begin a clinical trial soon.
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