Transcript Down syndrome

DOWN SYNDROME
Leah Pinckney
INTRODUCTION
 What is Down Syndrome?
 A genetic disorder caused by abnormal cell division that results in an
extra chromosome.
 “Trisomy 21”
 Variation in disabilities and health
 John Langdon Down first to categorize features
 Statistics
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1 in 691 live births
350,000-400,000 people with Down Syndrome in U.S.
Worldwide unknown
80% born to mothers < 35 years old
CAUSES
 Caused by abnormal cell division during egg, sperm, or
embryo development.
 Types of DS:
 Trisomy 21 – child has three chromosome 21s
 Mosaic DS – child has some cells with extra chromosome 21
 Translocation DS – child has additional material from chromosome
21 on a translocated chromosome
 NOT caused by environment, behavior, nationality, religion,
race, gender, etc.
SIGNS & SYMPTOMS
 Physical
 Common features:
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Flattened facial features
Small head
Short neck
Poor muscle tone
Shorter than average height
 Infants:
 Grow at slower rate
 Intellectual
 Slower development
 Health
 Increased risk
http://learn.genetics.utah.edu/content/disorders/chromosomal/down/
DIAGNOSIS
 History
 1800s
 “Idiot Mongoloids”
 1900s
 Amniocentesis & Trisomy 21
 Research
 Testing
 Screening tests
 Trimester tests
 Cell-free fetal DNA analysis
http://learn.genetics.utah.edu/content/disorders/chromosomal/down/
 Diagnostic tests
 During pregnancy
 After birth
TREATMENT & PREVENTION
 No “cure” for DS
 Cannot be prevented
 Supportive Care
 Only 1% of patients
inherit it
 Family
 Education
 Early intervention
programs
 Support groups
 Team care
 Adult care
 Independent living
 Work
 However…
PROGNOSIS
 Drug therapy
 Compounds to improve cognition
 Gene mapping
 Determining genes that contribute to DS
http://www.digitaljournal.com/img/6/8/2/8/9/9/i/1/5/2/o/mouseclo
ne.jpeg
WORKS CITED
 http://www.mayoclinic.org/diseases -conditions/downsyndrome/basics/definition/con -20020948
 http://www.webmd.com/children/tc/down -syndromesymptoms
 http://www.ndss.org/Down -Syndrome/What-Is-DownSyndrome/
 http://ghr.nlm.nih.gov/condition/down -syndrome
 http://www.globaldownsyndrome.org/about -downsyndrome/history -of-down-syndrome/research-and-medicalcare-timeline
 http://www.webmd.com/baby/guide/ amniocentesis
 http://www.nlm.nih.gov/medlineplus/ency/article/007311. ht
m
 http://www.cdc.gov/ncbddd/birthdefects/ downsyndrome.html
 http://hmg.oxfordjournals.org/content/18/R1/R75. full