Kara LeCureaux and Lorelle Dumoran
GENETIC DISORDERS
Down Syndrome
Three most common genetic disorders
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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
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Cystic Fibrosis
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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
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Down Syndrome
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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
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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 Syndrome
Note 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
Nondisjunction
Typical cell
division
2. Translocation, accounts for 4% of
cases
3. Mosaicism, accounts for 1% of cases
Non
disjunction
cell
division
Mosaicism
cell
division
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
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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
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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
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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
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Adulthood
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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
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Stay at home and call services if needed
 For
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With or without room mates
 Still
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more independent individuals
call services if needed
Live in a home with other disabled individuals and
receive 24 hour support services
Life Expectancy
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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
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Many TV shows are now featuring actors with Down Syndrome as it
becomes more and more accepted and understood.
Lauren Potter from GLEE
Interview
Luke Zimmerman
from The Secret
Life of the
American
Teenager
Jamie Brewer from
American Horror
Story
Sources
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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.downsyndrome.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-downsyndrome-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-andrespite.html>.
Sources
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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-threecommon-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>.