GENETIC DISORDERS

Down Syndrome

Kara LeCureaux and Lorelle Dumoran

Three most common genetic disorders

Sickle Cell Anemia Type of anemia caused by a

defect in a gene that is responsible for the shape of blood cells. Instead of a round shape these cells have more of a C shape. The odd shape of these cells causes them not to move well through veins and form clumps that can block blood flow.

Affects about 90,00 to 100,000 Americans

Sickle Cell Video

Three most common genetic disorders

Cystic Fibrosis A commonly inherited

disease caused by a defect in a gene that makes protein, which causes the body to make an abnormally thick and sticky mucus. This mucus then clogs the lungs and causes respiratory infections and can also effect the digestive and reproductive systems as well as sweat glands. This disease effects about 30,000 Americans. About 1 in every 20 Americans are carriers for cystic fibrosis.

Three most common genetic disorders

Down Syndrome Also known as trisomy 21,

people with down syndrome have an extra chromosome. They often have a distinct appearance with an upward slant to the eyes, small ears, large tongue, small hands and feet, and decreased stature. According to the National Down Syndrome Society, 1 in every 691 babies is born with Down Syndrome.

Prenatal Genetic Testing

Prenatal testing can diagnose many disorders before birth including; down syndrome, sickle cell anemia, cystic fibrosis, muscular dystrophy, and Tay-Sachs disease.

Amniocentesis is a very common test in which a sample of the amniotic fluid is tested.

Chorionic villus sampling is another test in which a sample of the placenta is tested.

Amniocentesis Video

Down Syndrome bone markers

Picture to the left shows a fetal skull without down syndrome. The nasal bone is clearly visible.

Picture to the right shows a fetal skull with down syndrome, showing the absence of the nasal bones. Absence of nasal bones is a good prenatal indicator of Down Syndrome. Three out of five skulls studied with Down Syndrome showed an absence of nasal bones.

Skull Differences

Female skull with Down Syndrome

Female skull without Down SyndromeNote the shorter nasal bones and the angle of the jaw in the skull with

Down Syndrome. Brachycephaly is also visible in the skull.

Three types of Down Syndrome

1. Trisomy 21 (nondisjunction), accounts for 95% of all cases

2. Translocation, accounts for 4% of cases

3. Mosaicism, accounts for 1% of cases

Typical cell

division

Mosaicism cell division

Non disjunction cell division

Nondisjunction

Likelihood of having a child with Down Syndrome

As the age of the woman increases so does her likelihood of having a child with Down Syndrome

Childhood Care

From diagnostics… Accept your child and become educated

on their condition Early Intervention from birth till age

three The theory is to maximize maximum

potential in the child IFSP (Individualized Family Service Plan)-

child’s needs, family’s concern, and what the state will provide

After age three, state public or private services

Childhood Care cont.

Therapy Physical therapy Occupational therapy Speech therapy Hippo therapy Educational therapy

Tutoring School follows Individualized Educational

Program

Growing Up with Down Syndrome Adolescence Therapies are long-term and these are followed

even when growing up General physical and neurological examinations Thyroid Function Screening Cervical Spine X rays Cardiac Exams Hearing and Vision Making sure nothing is wrong with development

Growing Up with Down Syndrome Schooling Psychoeducational evaluations every two

years to follow Individualized Educational Program (IEP)

Health education Sex education Substance abuse education Important in adolescence is the learning

of self-care and independence

Growing Up with Down Syndrome Adulthood

Therapy General physical and neurological examinations Thyroid Function Screening Cervical Spine X rays Cardiac Exams Hearing and Vision

Plans for CLA or Community Living Arrangements Options…research what is right and what is best Based on the person, some more independent than

others Cooking, changing, bathing, transport…all kinds of needs

Community Living Arrangements Stay at home and call services if needed

For more independent individuals With or without room mates

Still call services if needed Live in a home with other disabled

individuals and receive 24 hour support services

Life Expectancy

Lifespan has increased markedly for persons with Down syndrome. In 1900 life expectancy was around 9-11 years. It is now above 50 years with 1:10 living to 70 years of age

Down Syndrome in the media Many TV shows are now featuring actors with Down Syndrome

as it becomes more and more accepted and understood.

Lauren Potter from GLEE

Luke Zimmerman

from The Secret Life of the American

Teenager

Jamie Brewer from American Horror StoryInterview

Sources

Brown, Roy, Janet Taylor, and Brian Matthews. "Quality of Life - Ageing and Down Syndrome." Down Syndrome Education Online. Down Syndrome Education International, 2012. Web. 2 Oct. 2012. <http://www.down-syndrome.org/case-studies/101/>.

Care.com. "Caring for a Child with Down Syndrome Advice for Families and Caregivers." Care.com Inc., n.d. Web. 2 Oct. 2012. <http://www.care.com/special-needs-caring-for-a-child-with-down-syndrome-p1167-q16876.html>.

Cohen, William I., Lynn Nadel, and Myra E. Madnick. "HealthCare Guidlines For Individuals With Down Syndrome." Down Syndrome: Visions for the 21st Century. New York: Wiley-Liss, 2002. N. pag. Web. 2 Oct. 2012.

Down Syndrome WA. "Community Living and Respite." Down Syndrome WA. TSA Corporation, 2009. Web. 2 Oct. 2012. <http://dsawa.asn.au/adults/adult-life-options/community-living-and-respite.html>.

Sources

National Down Syndrome Society. N.p., 2012. Web. 2 Oct. 2012. <http://www.ndss.org/>.

Harper, Franchesca. "Three Most Common Genetic Diseases." Livestrong .com. N.p., 16 Jan. 2010. Web. 2 Oct. 2012. <http://www.livestrong.com/article/73591-three-common-genetic-diseases/>.

"Cystic Fibrosis: Disease Profile." Centers for Disease Control and Prevention. N.p., 16 Sept. 2011. Web. 2 Oct. 2012. <http://www.cdc.gov/ncbddd/sicklecell/data.html>.

"Cystic Fibrosis: Disease Profile." genomics.energy.gov. N.p., 27 Nov. 2002. Web. 2 Oct. 2012. <http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/cf.shtml>.