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Down Syndrome

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by

Sophie Roppolo

on 28 October 2013

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Transcript of Down Syndrome

Down Syndrome
Definition
Down syndrome occurs when an individual has a full or partial extra copy of chromosome 21. This section explains the science behind Down syndrome, how it is diagnosed, its history and social impact.
Causes
- A critical portion of chromosome 21 is present in all or some of their cells
- The additional partial or full copy of the 21st chromosome that causes DS can come from the father or mother. However, 95% of cases have been traced to the mother.
-research indicates it increases in frequency as women age.
Myths v. Truths
Truth or Myth: People with Down Syndrome have severe cognitive delays.
Truth or Myth: Children with Down Syndrome must be placed in segregated special education programs.

Sources
http://www.ndss.org

http://www.faithit.com/this-guy-writes-a-confession-letter-to-his-down-syndrome-daughter-that-will-break-your-heart-in-100-ways/
Types
Trisomy 21
Entire extra 21 chromosome in every cell
Not genetically inherited
Translocation
Number of chromosomes is normal, but part of chromosome 21 breaks off and attaches to another chromosome
Genetically inherited; most cases are chance events
Mosaicism
Not genetically inherited
Abnormal cell division (3rd 21st) in only some cells after fertilization
May have fewer features of Down Syndrome

Treatment Options
Medication
Treats symptoms
Surgery
Heart surgery
Cosmetic surgery
Intestinal surgery
Educational Accommodations
Give oral cues
Proximity control
Extended time
Visual Schedules
Assigned seating
Characteristics
Appearance:
Flat nose
Small teeth
Shortened neck and extremities
Eyelid crease
Low-set, rounded ears
Smaller genitalia in males
Large tongue
Detection
Prenatal - recommended all women be offered DS screening
Combined test,quad screen, integrated test, ultrasound, blood test
If screening predicts high chances, amniocentesis and CVS
Postnatal
Midwifery staff - distinctive signs, appearance
Confirmed by physician - clinical examination
Diagnostic criteria (0-2=no, 3-5=unclear, 6-8=yes)
Related Health Conditions
Arthritis
Visual impairments
Hearing impairments
Heart defects
Sophie Roppolo
Madalyn Bush

A Story
Full transcript