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 • Nondisjunctionaltrisomy 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
Mosaicism Nondisjunction occurs after fertilization.
Karotypes Normal 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 • 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. Miriam Kauk a mother of a child with down syndrome and hypothyroid.
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 DSaffect 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