DOWN SYNDROME

By Erik Peterson

Learning Objectives History Stats Types of DS Over expression of jeans Physical Characteristics Physiological differences How it could affect the prehospital

setting

History of down syndrome

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

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 1 in every 700 to 800 children are born with DS.

Most common chromosomal abnormality in humans. 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

Nondisjunctional trisomy 21. When the 21 chromosome

refuses to divide during Meiosis.

90% of “nondisjunction” comes form the egg.

95% of the cases in Down Syndrome.

Robertsonian Translocation

PARENT CHILD

MosaicismNondisjunction occurs after fertilization.

KarotypesNORMAL TRISOMY 21

Over Expression of the 21st

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

Human Genome Project 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.

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 Miriam Kauk a mother of a child with down syndrome and hypothyroid.

Mother responds to outdated information. 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 age-mates and thrives on the competition.

Daughter was on a nutritional diet to counter over expressions.

Physical Characteristics

Physiological differences

Polycythemia Cognitive intuition is slower. Hypothyroid disorder.

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.

Prehospital setting How will DS affect you as medics!

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.

Prehospital setting

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.

References 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

Questions?