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

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

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.

EXTRA COPY OF CHROMOSOME 21

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

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.

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

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

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

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

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

SUPPORT GROUPS  National Down Syndrome Society –  National Down Syndrome Congress –  Trinity Health in Novi, Michigan  Down Syndrome Guild of Southeast Michigan in Southfield, Michigan

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.