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Down syndrome
With contributions from Phoebe Hamann

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Down syndrome

Definition: a genetic disorder caused when abnormal cell division results in extra genetic material. This genetic
disorder, which varies in severity, causes lifelong intellectual disability and developmental delays, and in some
people it causes health problems (Mayo Clinic)
Incidence
Approximately 1 out of every 800 births.
3,000-5,000 children are born with DS every year in the U.S.

Prevalence: approx. 400,000 people in U.S .with DS has been consistent number but now closer to 250,000.
Incidence

Risk for having a child with DS (correlated to the mothers age):

-Age 20: 1/1600
-Age 35: 1/400
-Age 40: 1/100
-Age 45: 1/30
Risk for giving birth to another child with DS (if already have one child with DS) is 1%
Etiology/Cause
DS occurs at conception

Each cell in body has 46 chromosomes or 23 pairs

Cause of Down Syndrome is unknown, but is due to improper cell division at chromosome 21
Chromosome 21

Trisomy: each cell in the body has three copies of chromosome 21

Cure?
Three types of Down Syndrome
Trisomy: 95% of cases
Mosaic: 2-4%

Mosaic: 2-4%

Translocation Trisomy: 2-4%

Screening tests
Some screening tests, such as ultrasound, look for markers that might indicate a disability

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Blood tests can also look for proteins and hormones

Diagnostic tests

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Chorionic Villus Sampling

-tissue taken from placenta through vagina
-can be done between 10th and 12 wks. (end of first trimester)
-increases risk of miscarriage 1/100
Amniocentesis
-amniotic fluid taken through abdominal wall
-can be done after 14th week (2nd trimester)
-risk of miscarriage 1/250
Characteristics:

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Physical characteristics: flattened face, widely spaced and slanted eyes, comparatively smaller head size (tongue
too big for the mouth), lax joints, decreased muscle tone, smaller hands and feet (not proportional to body), stunted
growth
Characteristics
Cognitive characteristics:

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Development occurs at a slower rate:

Learning Capabilities:

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Able to learn everyday life skills and progress with intervention to a 6th grade level of academic skills or more with
intervention.
Carefully planned programs to promote development of motor and mental skills are important. Since learning
potential is greatest during infancy, an early stimulation program of exercises based on the child's ability is
necessary for teaching gross motor skills.
http://www.moondragon.org/obgyn/pediatric/downnutrition.html http://www.karenganeyfoundation.com/
Learning Capabilities, cont.
With early intervention, individuals with DS can participate fully in a regular classroom settings from grade school

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Learning Capabilities, cont.

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With early intervention, individuals with DS can participate fully in a regular classroom settings from grade school
years through Community College
Characteristics, cont.
Behavioral characteristics: stereotype is usually happy, aectionate, good natured BUT...

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Characteristics, cont.

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Possible health concerns: gastrointestinal problems, heart defects, respiratory infections, thyroid dysfunctions,
unstable vertebrae (atlantoaxial instability), posture and balance problems, strabismus
High correlation with what condition?
Average lifespan now
Social issue: marriage
Increased life span/early intervention
Residential facilities often dont accommodate married couples
Funding can be at risk
Issues related to child bearing
Tremendous support needed
Example: Carolyn and Sujeet Desai

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Sources

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National Down syndrome Society, National Down syndrome Congress, National Association for Down syndrome
Sources: http://www.ndsccenter.org/resources/package3.htm, http://www.healthscout.com/ency/1/000997.html,
http://www.ndss.org/content.cfm?fuseaction=InfoRes.Generalarticle&article=29, http://www.downsyn.com/
whatisds.html, http://www.moondragon.org/obgyn/pediatric/downnutrition.html, http://
www.karenganeyfoundation.com/, http://www.altonweb.com/cs/downsyndrome/index.htm?page=wishart.html,
http://www.sarasota.usf.edu/specialeducation/downsyn.htm, http://www.parentsurf.com/p/articles/mi_qa3614/
is_199810/ai_n8814333?pi=psf
http://www.mayoclinic.com/health/medical/IM02633
http://www.education.com/reference/article/Ref_Facts_About_Down/
http://www.mayoclinic.org/diseases-conditions/down-syndrome/basics/definition/con-20020948
Images
http://rakcommunity.wordpress.com/tag/down-syndrome/
http://www.medindia.net/patients/patientinfo/images/Down-Syndrome.jpg

http://rakcommunity.wordpress.com/tag/down-syndrome/
http://www.medindia.net/patients/patientinfo/images/Down-Syndrome.jpg
http://www.theupsofdowns.org/
thebehavioranalyst.files.wordpress.com/2007/0...
ttp://www.ndss.org/content.cfm?fuseaction=InfoRes.Generalarticle&article=29
www.downssupport.org.uk
http://www.mayoclinic.com/health/medical/IM02633
http://www.nwabr.org/studentbiotech/winners/studentwork/2007/WB_BA_TRONGTHAM/
picamniocentesis.jpgv
http://www.catholicnews.com/photos/09hp0245.jpg
http://downsyndromeliverpool.org.uk/?p=291
http://www.eduguide.org/library/viewarticle/1604/
http://ww2.gazette.net/stories/06242010/montnew124852_32558.phphttp://ww2.gazette.net/stories/
06242010/montnew124852_32558.php