Down Syndrome

Taylor ArpEmily Payton Monica Tate

Definition/Genetic Cause of Down Syndrome

• There are three genetic variations of Down Syndrome:– Trisomy 21–Mosaic Down syndrome– Translocation Down syndrome

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Trisomy 21• A child with Trisomy 21

has three copies of chromosome 21 — instead of the usual two copies — in all of his or her cells.

• This form of Down syndrome is caused by abnormal cell division during the development of the sperm cell or the egg cell.

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Mosaic Down syndrome

• Rare form of Down syndrome • Children have some cells with an extra copy of

chromosome 21. • This mosaic of normal and abnormal cells is

caused by abnormal cell division after fertilization.

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Translocation Down syndrome

• Part of chromosome 21 becomes attached (translocated) onto another chromosome, before or at conception.

• Children with translocation Down syndrome have the usual two copies of chromosome 21, but they also have additional material from chromosome 21 stuck to the translocated chromosome.

• This form of Down syndrome is uncommon.

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Genetic, What Does That Mean?

• It is a common misconception that when a person hears “genetic” they believe that Down Syndrome is inherited.

• Down Syndrome is not inherited; it is caused by a mistake in cell division during the development of the egg, sperm or embryo.

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Screening Tests During Pregnancy

• Blood tests are typically offered around the 16th week of pregnancy to screen for Down Syndrome, Spina Bifida and various other chromosomal disorders.

• first trimester combined test, done from week 11 to 13, includes:– Ultrasound– Blood tests

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Ultrasound• An ultrasound is used

to measure a specific region on the back of a baby's neck - known as a nuchal translucency screening test.

• When abnormalities are present, more fluid than usual tends to collect in this tissue.

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Blood Tests

• Results of the ultrasound are paired with blood tests that measure levels of pregnancy-associated plasma protein-A (PAPP-A) and a hormone known as human chorionic gonadotropin (HCG).

• Abnormal levels of PAPP-A and HCG may indicate a problem with the baby.

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Diagnostic Tests During Pregnancy

• Amniocentesis• Chorionic Villus Sampling (CVS)• Percutaneous umbilical blood sampling (PUBS)

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Amniocentesis

• A sample of the amniotic fluid surrounding the fetus is withdrawn through a needle inserted into the mother's uterus.

• This sample is then used to analyze the chromosomes of the fetus.

• Doctors usually perform this test after 15 weeks of gestation.

• The test carries a one in 200 risk of miscarriage.

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Chorionic Villus Sampling (CVS)

• Cells taken from the mother's placenta can be used to analyze the fetal chromosomes.

• Typically performed between the ninth and 14th week of pregnancy, this test carries a one in 100 risk of miscarriage.

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Percutaneous Umbilical Blood Sampling (PUBS)

• Blood is taken from a vein in the umbilical cord and examined for chromosomal defects.

• Doctors generally perform this test after 18 weeks of gestation.

• This test carries a greater risk of miscarriage than does amniocentesis or chorionic villus sampling.

• Generally, this test is only done when speed of diagnosis is essential.

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Diagnostic Tests For Newborns• After birth, the initial diagnosis of

Down syndrome is often based on the baby's appearance.

• If the child displays some or all of the characteristics of Down syndrome, the doctor will probably order a test called a Chromosomal Karyotype.

• This test is an analysis of the child's chromosomes. If there's an extra chromosome 21 present in all or some of the cells, the diagnosis is Down syndrome.

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How to prevent

• There's no way to prevent Down syndrome.• A person whom already has a child with Down

syndrome, or are at high risk to, may wish to consult a genetic counselor before becoming pregnant.

• A genetic counselor can help evaluate the chances of having a child with Down syndrome.

• He or she can also explain the prenatal tests that will be offered and help to figure out the pros and cons of testing.

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Physical Features

• Distinct facial features, such as a flat face

• Small ears• Slanting eyes• Small mouth• Short neck• Short arms and legs

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Symptoms

• Weak muscles and joints• Below average intelligence• Born with heart, intestine, ear, or breathing

problems

• Some of these symptoms can lead to…– Respiratory infections– Hearing Loss

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How Down Syndrome Is Treated

• Soon after birth, the baby will be tested for common health problems. The sooner we can find a problem the sooner we can take action.

• Most doctors will set up a plan to fit the baby’s developmental and physical growth. He / She will also line up for speech therapy, physical therapy, and occupational therapy for later on. Counseling will also help with social and emotional issues.

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School Issues

• Most children with Down syndrome can be included in a regular classroom. Your child may need an adapted curriculum and may sometimes attend special classes.

• Be involved with your child's education. Children with disabilities, such as those related to Down syndrome, have a legal right to education. These laws also protect your rights as a parent to be fully informed about or challenge educational decisions concerning your child.

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Teaching strategies- Preschool

• Allow for individual one-on-one teaching • Increase learning by using visual aids that the children

can touch and feel• Increase learning through the use of visual and

auditory aids• Keep to a routine and keep a structured environment• Use smaller classrooms/ teaching areas• Use lighter, non-breakable toys and equipment so that

the children may have an easier time playing with them.

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Teaching Strategies- Elementary-Secondary

• Keep to a strict routine.• Allow students to make decisions in a

structured manner.– -Ex) Give them the choice of “Would you rather

draw or play with counting blocks today during free time?”

• The use of these structured decision making scenarios will allow the children to become better decision makers as they grow and develop.

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Teaching Strategies- Elementary-Secondary Continued

• When giving directions for an assignment or activity keep the instructions clear and conscience.

• When explaining how to do a task, break down the instructions into simple steps.

• Pair the child with a peer mentor or buddy-system to assist in learning.

• Demonstrate the activity and skills that the children will be learning through visual, auditory, and physical demonstrations

• Use positive discipline strategies.

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General Teaching Strategies:

• Student’s with Down Syndrome need a multisensory learning experience

• Student’s with Down Syndrome need reinforcement of previously learned topics to best comprehend and retain the information.

• Students with Down Syndrome may also require repetition of previously taught materials to best retain the information.

• Assistive technology is helping students with Down Syndrome

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Life as a High School Senior

• Some children with down syndrome may not take the maximum time limit to graduate high school

• Because of inclusion, student’s with Down syndrome hear about SATs, ACTs, and college from their classmates, and see them graduating in 4 years.

• Each state varies on the maximum age that a student may stay enrolled in high school

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Begin to Plan in High School• As a teacher of students with Down syndrome

begin to plan what they want to do after high school.

• As a parent, what plans do you foresee for your child? Compare your goals as a parent, to your child’s goals.

• Pending on their individual plan, map our possible career and service opportunities for the young adult with Down syndrome.

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Begin to Plan in High School Continued• Most people with disabilities do not join military

services even though they may want to.• Most go onto trade schools or community

colleges• Students with Down syndrome are the same, and

usually stay 1-2 hours away from home.• When planning for life after High school keep the

following in mind: Leisure time (being with the friends that they’ve made), employment (since college typically isn’t an option), and living situation.

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Transitional Sexually• Contrary to popular belief, individuals with Down

syndrome have sexual desires and need for intimacy.• Sexual education still pertains to those with Down

syndrome, and should be acknowledged and respected.

• 50% of women with down syndrome are fertile (NDSS 2009)

• In general, men with down syndrome have a lower fertility rate

• If a woman with Down syndrome becomes pregnant there is a 35-50% (NDSS) chance that their child will have Trisonomy 21.

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Transitional Employment• It is important to go over requirements for each specific job, how

the individual will get to and from work, and how the individual will handle new cultures, situations, and strangers.

• Example Check list:“Vocational SkillsCan [the individual]:

– Get to and from work, on time.– Perform work satisfactorily.– Work cooperatively with others.– Take break or lunch appropriately.– Wear suitable clothing.– Use appropriate safety procedures.– Follow directions.– Accept supervision.” (NDSS)

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Transitional New home:

• Like any other adult, the need for independence will come for those with Down syndrome.

• Be sure to educate basic life skills such as how to use a washer and dryer, phone, handling money, traffic safety, social norms, and public transportation.

• As stated earlier, many individuals will only live 1-2 hours away from home.

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Transitional Living Resources:

• If the individual with Down syndrome isn’t fully ready to make the transition to single living, or one has doubts and concerns of their safety there are multiple resources for community living.

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Works Cited• Down Syndrome Fact Sheet. Effective Teaching Strategies. Retrieved April 10, 2009, from

http://www.pecentral.org/adapted/factsheets/downsyndrome.htm. • Golonka, D. (2007, August 9). Down Syndrome - Topic Overview. Retrieved April 12, 2009,

http://health.yahoo.com/children-genetic/down-syndrome-topic-overview/healthwise--hw167778.html

• MayoClinic.com. Down Syndrome. Retrieved March 30, 2009, from http://www.mayoclinic.com/health/down-syndrome/DS00182/DSECTION=tests-and-diagnosis

• National Renewable Energy Laboratory. (2008). Biofuels. Retrieved May 6, 2008, from http://www.nrel.gov/learning/re_biofuels.html

• National Down Syndrome Society. (2009) Education Development Community Life, Housing Resource List - Housing Resource List. Retrieved April 14, 2009, from http://www.ndss.org/index.php?option=com_content&view=article&id=132%3Ahousing-resource-list&catid=50%3Atransition-a-adulthood&Itemid=141&limitstart=1

• National Down Syndrome Society. (2009) Education Development Community Life, Sexuality-Sexuality. Retrieved April 14, 2009, from http://www.ndss.org/index.php?option=com_content&view=article&id=134%3Asexuality&catid=50%3Atransition-a-adulthood&Itemid=141&limitstart=1

• National Down Syndrome Society. (2009) Education Development Community Life, Transition Planning-Transition Planning. Retrieved April 14, 2009, from http://www.ndss.org/index.php?option=com_content&view=article&id=129%3Atransition-planning&catid=50%3Atransition-a-adulthood&Itemid=141&limitstart=1

• Time For Learning. Teaching Children with Down Syndrome. Retrieved April 10, 2009, from http://www.time4learning.com/teaching_your_down_syndrome_child.shtml