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DOWN SYNDROME A genetic condition in which a person has 47 chromosomes instead of the usual 46.

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Presentation on theme: "DOWN SYNDROME A genetic condition in which a person has 47 chromosomes instead of the usual 46."— Presentation transcript:

1 DOWN SYNDROME A genetic condition in which a person has 47 chromosomes instead of the usual 46.

2 ROLE PLAY SCENARIO You and your wife are in your early forties and have decided you would like to have another child. Your physician refers you to a genetic counselor to discuss concerns regarding Down’s Syndrome. Your income: $150,000 Insurance: 80% coverage

3 CAUSE & EFFECT  Down syndrome occurs when there is an extra copy of chromosome 21.  Down syndrome is also referred to as Trisomy 21.  The extra chromosome causes problems with the way the body and brain develop.

4 EXTRA COPY OF CHROMOSOME 21

5 RISK  The chance of having a child with Down syndrome increases as a woman gets older.  Age 25- 1 in 1,250  Age 40- 1 in 100

6 SIGNS & TESTS  A doctor can often make a initial diagnosis at birth based on how the baby looks.  A blood test can be done to check for the extra chromosome and confirm the diagnosis.

7 PHYSICAL SIGNS  The head may be smaller than normal and abnormally shaped. The inner eyes may be rounded instead of pointed.  Other common physical signs include: -Decreased muscle tone at birth -Excess skin at the nape of the neck -Wide, short hands with short fingers

8 MEDICAL PROBLEMS  Birth defects involving the heart  Eye problems  Early and massive vomiting  Hearing problems  Hip problems  Chronic constipation problems  Teeth that appear later than normal

9 SOCIAL PROBLEMS  Impulsive behavior  Poor judgment  Short attention span  Slow learning

10 ECONOMIC PROBLEMS Families with a child that has Down syndrome may experience economic problems from the cost of all the procedures. Some common procedures are: -Eye exam every year during infancy -Hearing tests every 6-12 months -Dental exams every 6 months -X-rays of the spine between ages 3-5 years -Thyroid testing every 12 months

11 TREATMENT  There is no cure for Down syndrome, but surgery after birth may be required if the child is born with certain heart defects.  Behavioral training can help people with Down syndrome and their families deal with the compulsive behavior that occurs.  It is important for those with Down syndrome to: -Be in a safe environment -Learn to advocate for themselves in difficult situations

12 SUPPORT GROUPS  National Down Syndrome Society – www.ndss.orgwww.ndss.org  National Down Syndrome Congress – www.ndsscenter.orgwww.ndsscenter.org  Trinity Health in Novi, Michigan  Down Syndrome Guild of Southeast Michigan in Southfield, Michigan

13 FINAL DECISION  The husband and wife decide that they are not going to have a child due to the fact of the high risk factor of the child having Down syndrome at that late of an age.  They are also afraid of financial problems coming into play with this condition.


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