1. Leah Pinckney DOWN SYNDROME

2.  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  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 INTRODUCTION

3.  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. CAUSES

4.  Physical  Common features:  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 SIGNS & SYMPTOMS http://learn.genetics.utah.edu/content/disorders/chromosomal/down/

5.  History  1800s  “Idiot Mongoloids”  1900s  Amniocentesis & Trisomy 21  Research  Testing  Screening tests  Trimester tests  Cell-free fetal DNA analysis  Diagnostic tests  During pregnancy  After birth DIAGNOSIS http://learn.genetics.utah.edu/content/disorders/chromosomal/down/

6.  No “cure” for DS  Supportive Care  Family  Education  Early intervention programs  Support groups  Team care  Adult care  Independent living  Work  Cannot be prevented  Only 1% of patients inherit it  However… TREATMENT & PREVENTION

7.  Drug therapy  Compounds to improve cognition  Gene mapping  Determining genes that contribute to DS PROGNOSIS http://www.digitaljournal.com/img/6/8/2/8/9/9/i/1/5/2/o/mouseclo ne.jpeg

8.  http://www.mayoclinic.org/diseases-conditions/down- syndrome/basics/definition/con-20020948 http://www.mayoclinic.org/diseases-conditions/down- syndrome/basics/definition/con-20020948  http://www.webmd.com/children/tc/down-syndrome- symptoms http://www.webmd.com/children/tc/down-syndrome- symptoms  http://www.ndss.org/Down-Syndrome/What-Is-Down- Syndrome/ http://www.ndss.org/Down-Syndrome/What-Is-Down- Syndrome/  http://ghr.nlm.nih.gov/condition/down-syndrome http://ghr.nlm.nih.gov/condition/down-syndrome  http://www.globaldownsyndrome.org/about-down- syndrome/history-of-down-syndrome/research-and-medical- care-timeline http://www.globaldownsyndrome.org/about-down- syndrome/history-of-down-syndrome/research-and-medical- care-timeline  http://www.webmd.com/baby/guide/amniocentesis http://www.webmd.com/baby/guide/amniocentesis  http://www.nlm.nih.gov/medlineplus/ency/article/007311.ht m http://www.nlm.nih.gov/medlineplus/ency/article/007311.ht m  http://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html http://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html  http://hmg.oxfordjournals.org/content/18/R1/R75.full http://hmg.oxfordjournals.org/content/18/R1/R75.full WORKS CITED