For one of my classes, we had to do a presentation, my selection was on Down Syndrome.

1. Down Syndrome
Sallyanna Cohen

2. AKA “trisomy 21” because it is a
genetic disorder caused by
having a 3rd copy of
chromosome 21 (most common
form)
The most common chromosome
abnormality in humans
1 out of 699 babies born in the
U.S. are born with Down
Syndrome
Background Information

3. Different Types
of
Down Syndrome
① Trisomy 21: account for 95% -extra chromosome 21 (three rather
than a pair)
② Translocation Down Syndrome: 3-4% of people with Down
Syndrome-extra #21 chromosome is present, but attached to a diff
chromosome in the egg or sperm
③ Mosaic Down Syndrome: account for <1%- born having some cells
with 3 copies of chromosome 21 and some with the usual pair;
usually have same features and health problems as the other
types, but may result in fewer characteristics- also may score a few
points higher in IQ

4. Physical Features
 Stunted growth
 Upward slanted eyes & eyelid crease
 Low-set and rounded ears
 Flattened nose
 Smaller teeth
 Shortened hands

5. Neurological Symptoms
o Most have intellectual disability in the
mild (IQ 50-70) to moderate (IQ 35-50)
range
o Common to have a speech delay
o Delay in gross & fine motor skills
o Greater risk for developing epilepsy
and Alzheimer’s Disease

6. Prenatal Testing
 The highest detection rate in
screening is from a combined test
using ultrasound (Nuchal
translucency/free beta hCG/PAPP-A
screen)
 Blood Tests

7. Post Natal
 Fried’s Diagnostic Index :
- Detects 8 characteristics
- if the baby has 0-2 characteristics it
is likely to not have the syndrome
- 3-5 characteristics its unclear
- 6-8 characteristics they are
confident he or she has Down
Syndrome

8. Adaptive Skills
• Children with Down Syndrome do
seem to acquire skills in a similar
sequence as regular children in
adaptive levels of motor, daily
living, communicative, and social
behavioral skills but at a slower pace
and reach their ceiling at about the
age of 12
• Most, depending on the intensity of
the syndrome, are able to live
independently and hold job

9. Interventions
 Screen for middle ear problems and
hearing loss- hearing aids or other
amplification devices can be useful for
language learning
 Early communication intervention
fosters linguistic skills
 Language assessments can help
profile strengths and weaknesses
 Individualized speech therapy
 Augmentative and alternative
communication (AAC) methods such
as pointing, body language, objects, or
graphics are often used to aid
communication