Down Syndrome Flashcards
Most common chromosomal abnormality
Down Syndrome
Rate of DS
1 in 800 live births
What are the ages of parents can contribute to DS
Mother over 35 (1 in 100) and Paternal age over 55
It is a genetic Disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21
Down Syndrome
How many pairs of chromosome does human cells have
23 pairs (46 in total)
The 3 genetic variations that can cause DS
Abnormal cell division
Extra full or partial of chromosome 21
Characteristics features and developmental problems
DS varies in severity that can cause
Intellectual disability and developmental delays
What medical abnormalities caused by DS
Heart and GI disorders
Symptoms
Intellectual problems may be mild, moderate or severe
Some are healthy
Is DS inherited?
Most of them are not. It is cause by a mistake in cell division during early development of the fetus.
Size of infant with DS
Average in size but typically grow slowly and remain shorter than other children with same age
Intellectual Disabilities of DS
Mild to moderate cognitive impairment
Language is delayed
Short and long term memory is affected
Assessment
Nose is broad and flat
Extra fold of eyelids in inner canthus (epicanthal fold)
Lateral upward slanting of palpebral fissure
Iris of the eyes has brushfield spots
Tongue protruding from mouth due to small oral cavity
Back of the head is flat
Puppy’s neck
Lowset ears
Poor muscle tone
Ragdoll appearance
Short fingers
Third and little fingers curved inward
Wide space between first and second toe and fingers
Simian line present rather than normal 3 creases
DS IQ with that require less involvement
50 to 70
DS IQ that require total care
Less than 20
