By
Erik Peterson
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History
Stats
Types of DS
Over expression of jeans
Physical Characteristics
Physiological differences
How it could affect the prehospital setting
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John Langdon Down.
In 1866 Published an essay in Surrey,
England
 Superintendent of asylum for
children with mental retardation.
 Referred to them as mongoloids
scientifically. Due to resemblance of
the Mongolians
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History of down
syndrome
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In 1960 the scientific term was
changed to Downs Syndrome.
In 1970 the scientific term was
simplified to Down syndrome.
Speculation began in the early
1900’s that down syndrome was a
chromosomal disorder.
1959 Jerome Lejeune and Patricia
Jacobs first determined the cause to
be a trisomy on 21.
Mosaicism on translocation
trisomy were discovered later.
Statistics
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1 in every 700 to 800 children
are born with DS.
Most common chromosomal
abnormality in humans.
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Downs is one of the few
chromosomal abnormalities that
can withstand a full term of
pregnancy.
40 to 45 percent of babies born
with downs have congenital
heart defects.
Respiratory illnesses are very
common in children with DS.
90% have some sort of hearing
loss.
30-40% have some sort of GI
problem.
Types of Down
Syndrome
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Nondisjunctional trisomy 21.
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When the 21 chromosome
refuses to divide during
Meiosis.
 90% of “nondisjunction” comes
form the egg.
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95% of the cases in Down
Syndrome.
PARENT
CHILD
Mosaicism
Nondisjunction occurs
after fertilization.
NORMAL
TRISOMY 21
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Superoxide Dismutase (SOD1)– over expression may cause
premature aging and decreased function of the immune system;
its role in Senile Dementia of the Alzheimer's type or decreased
cognition is still speculative
COL6A1 – over expression may be the cause of heart defects
ETS2 – over expression may be the cause of skeletal abnormalities
CAF1A – over expression may be detrimental to DNA synthesis
Cystathione Beta Synthase (CBS) – over expression may disrupt
metabolism and DNA repair
DYRK – over expression may be the cause of mental retardation
CRYA1 – over expression may be the cause of cataracts
GART – over expression may disrupt DNA synthesis and repair
IFNAR -- the gene for expression of Interferon, over expression
may interfere with the immune system as well as other organ
systems
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identify all the approximately
20,000-25,000 genes in
human DNA,
determine the sequences of
the 3 billion chemical base
pairs that make up human
DNA,
store this information in
databases,
improve tools for data
analysis,
transfer related technologies
to the private sector.
address the ethical, legal, and
social issues (ELSI) that may
arise from the project.
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Doctors have been able to
supplement diets and battle
gene over expressions due to
the results of this project.
Human Genome
Gives Hope Through
Nutrition
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Mother responds to outdated
information.
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Miriam Kauk a mother of a child
with down syndrome and
hypothyroid.
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As a case in point, my daughter
with Down Syndrome is seven
years old.
She can read.
She can do 1st grade arithmetic.
She has memorized the names (in
order) of the 27 books of the New
Testament and yesterday was busy
teaching them to my two year old.
She is responsible for helping with
the laundry, she sweeps floors, she
is adept at washing dishes.
Her health is excellent and she
experiences upper respiratory
infections at the same rate as the
other children in my family.
In play, she participates in group
games and contests with her agemates and thrives on the
competition.
Daughter was on a nutritional diet
to counter over expressions.
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Physiological
differences
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Polycythemia
Cognitive intuition is slower.
Hypothyroid disorder.
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Brittle nails and bones
thin hair
decreased heart rate,
constipation
feeling cold
Basal Metabolic rate is slower.
Decreased immune function.
Fine motor function is slower
More likely to suffer from
Alzheimer's or dementia later in
life.
Life span is much shorter 50-60.
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How will DS affect you as medics!
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Neonatal (heart defects). O2 levels will be
dangerously low.
Blood will be thick. Hematocrit will be high.
Cardiovascular system will not function as well as it
should.
Parents might not know.
Medications might react differently to down
syndrome Pts. High tolerance. I think due to
Hypothyroid.
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Prehospital setting
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Listen to parents. They are
the duty experts.
Down children are visual
people, also very emotional.
Some can sign.
Be careful what you say and
terms you use. You never
know who is listening.
Dementia and Alzheimer's in
middle aged Pts.
Most adult DS pts know they
have challenges even know
they have downs. Treat them
with the same respect as
anyone else.
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Human Genome Project Information Genomics:
www.ornl.gov/sci/techresources/Human_Genome/home.shtml
Len Leshin, MD, FAAP.
Down Syndrome a Positive Attitude: Posted on February 19, 2008
by Miriam Kauk. About.com
Down Syndrome Quarterly:
dsrf.org/index.cfm?fuseaction=publications.dsq
Dr Pinter MD, Pediatric neurologist, OHSU
Dr. Hainstock, Michael : pediatric cardiologist, OHSU
Immages:www.schneiderchildrenshospital.org/peds_html_fixed
/images/ei_0115.gif
Stray-Gunderson, Karen, Babies with Down Syndrome. 1995