Leah Pinckney DOWN SYNDROME

 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 people with Down Syndrome in U.S.  Worldwide unknown  80% born to mothers < 35 years old INTRODUCTION

 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

 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

 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

 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

 Drug therapy  Compounds to improve cognition  Gene mapping  Determining genes that contribute to DS PROGNOSIS ne.jpeg

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