Down Syndrome

Nicole Tuggle Russell

What is Down Syndrome?

• A genetic condition dealing with chromosome 21 that happens before birth

• Physical and mental delays, including language

• Similar physical traits• Severity varies from person to person• Is a lifelong condition

Statistics• 1 in every 691 babies in the U.S. are born

with Down Syndrome• That is about 6,000 babies every year• Approximately 400,000 people in the U.S.

have some form and degree of Down Syndrome

• 40% of people with down syndrome have a congenital heart defect

• Life expectancy is 55 years, up 25 years since 1983

• About 80% of women who receive a definitive prenatal diagnosis of down syndrome choose to terminate the pregnancy

Maternal Age and Risk Level

CAUSES OF DOWN SYNDROME

• Abnormal cell division involving chromosome 21• Can be a full or only a partial copy of the

genetic material • Additional chromosome can come from either

mother or father• Nondisjuction research has shown a link with the

mothers age, however due to the higher birth rates 80% of children with down syndrome are born to mothers under 35

• Translocation research has not shown any link to the age of the mother

• Occurs in all races and economic levels

Diagnosis• Prior to Birth– Screening Tests, and Diagnostic• Screening – Blood test or sonogram, will not

definitively diagnose• Diagnostic – Amniocentesis or CVS – 100%

definitive but carry a risk for miscarriage • Video Link -

http://www.webmd.com/baby/video/amniocentesis

• After Birth– Physical Traits and Blood Tests

• Other tests typically preformed– ECG, X-Rays of the chest and

gastrointestinal tract

Physical Traits

• Low Muscle Tone – weak stomach muscles make to belly stick out

• Flattened Nose• Upward Sloping Eyes• Short Wide Neck- May have excess skin and fat• Short (height)• Short Stocky Arms and Legs – some also have

extra space between the big toe and second toe• Irregularly Shaped Mouth and Tongue• Irregular and Crooked Teeth• Small Ears

Trisomy 21

Trisomy 21 (Nondisjunction)

• 95% of Down Syndrome cases are this type

• Usually an error in cell division called nondisjunction

• Happens either prior or at conception when a pair of 21st chromosomes fail to separate (can be either sperm or egg)

• Results in 3 copies of the 21st chromosome instead of the usual 2

• Takes place in all of the cells in the body during cell replications

Mosaicism

Mosaicism• Only about 1% of all cases• Nondisjunction takes place in one. But not

all cell divisions after fertilization.• 2 types of cells, some containing the usual

46, the others containing 47 with the extra 21st chromosome

• May have fewer characteristics than others with different forms of Down Syndrome

• Broad generalizations are not possible because of the wide range of abilities possessed by those with Down Syndrome

Translocation

Translocation

• About 4% of all case• Only a portion of the 21st

chromosome breaks off and reattaches itself on to another chromosome, typically the 14th

• The total number of chromosomes is the usual 46

• However there is an extra portion of the 21st chromosome

In The Classroom

• Have the right to attend schools in their neighborhood, with those student that have no disabilities.

• There should be high expectations for not only the students but also the teachers that teach them.

• Related services such as speech and language, occupational and physical therapy.

• Administrators must take the a leadership role in making sure all the best services and practices are being implemented for students.

• Principals must recognize excellence in the students and not just the standardized tests which may not show the excellence of the special education students

• Students have the right to a curriculum that is individualized, functional, and future-oriented.

• IEP’s should be completely personalized, and should respect the values and preferences of the parents and the student.

• Schools must be future oriented to focus and improve the students life after school. Focusing on work and integrated community lives. Including training in the community.

• Students have the right to be treated with dignity just as full citizens of the school’s community.

• There should be NO labeling of the students.• Students should have the same access to events, facilities,

and resources just as the students with no disabilities.• Must be recognized as individuals understanding that

variations in behavior and health are not just a part of the human condition.

• Schools must promote active parent and family involvement. The family not the school system that has the most long term interest for any child with disabilities.

Continued

Image Sources

• http://staff.jccc.net/pdecell/evolution/mutations/translocation.gif

• http://www.ndss.org/Down-Syndrome/What-Is-Down-Syndrome/

• http://www.awesomeparents.com/wp-content/uploads/2010/06/picture160.jpg

• http://1.bp.blogspot.com/_7EsogN2ZmgU/TEl3sAxV6AI/AAAAAAAAAtE/6uzyh9UAMR4/s320/Down+Syndrome.jpg

Works Cited"Children's Health - Down Syndrome - Topic Overview." Web

MD.Web MD, 20 July 2011. Web. Oct. 2012. <http:// children.webmd.com/tc/down-syndrome-topic- overview>.

Down Syndrome Education Online. Down Syndrome Education International, n.d. Web. <http://www.down- syndrome.org>.

"Facts About Down Syndrome." National Association for Down Syndrome. NADS, n.d. Web. Oct. 2012. <http:// www.nads.org/pages_new/facts.html>.

Maggie. "Down Syndrome Statistics Turned Upside Down." 5 Minutes for Special Needs. N.p., 8 Jan. 2011. Web. Oct. 2012. <http://www.5minutesforspecialneeds.com/7329/ down-syndrome-statistics-turned-upside-down/>.

"Position Statements - National Down Syndrome Congress.” Position Statements - National Down Syndrome Congress. National Down Syndrome Congress, n.d. Web. Oct. 2012. <http://ndsccenter.org/about-ndsc/position- statements/>.

"What Is Down Syndrome?" - National Down Syndrome Society. N.p., n.d. Web. 12 Oct. 2012. <http:// www.ndss.org/Down-Syndrome/What-Is-Down-Syndrome/>