Down Syndrome

Question 1

Down Syndrome is trisomy ___

Answer 1

21

Question 2

What is the most common chromosomal abnormality?

Answer 2

Trisomy 21

Question 3

What causes Down Syndrome?

Answer 3

An error in cell division, non junction at conception

Question 4

Incidence of Down syndrome

Answer 4

1 in 691 live births

Question 5

True or false: incidence DS increases markedly as paternal age increases

Answer 5

False, maternal

Question 6

What are the 3 types of down syndrome?

Answer 6

Trisomy 21
Translocation
Mosaicism

Question 7

Trisomy 21 makes up ____% of cases of down syndrome

Answer 7

92-95%

Question 8

What is translocation in down syndrome?

Answer 8

4-6% of cases, where part of chromosome 21
exists on another pair (hereditary and unrelated to
parental age)

Question 9

What is mosaicism?

Answer 9

where different cells in the body exhibit either normal or abnormal chromosomes (some have 46 chromosomes others 47)

Question 10

How is down syndrome diagnosed prenatally?

Answer 10

Blood tests for decreased alpha fetal protein
Ultra sound
Chorionic Vilnius sampling
Amniocentesis

Question 11

How is down syndrome diagnosed after birth?

Answer 11

Physical traits then chromosomal analysis

Question 12

Common characteristics of down syndrome

Answer 12

■ low muscle tone* 
■ joint laxity*
■ Small stature 
■ flat facial profile 
■ upward slanting eyes* 
■ flat nasal bridge*
■ small ears*
■ large protruding tongue 
■ broad short hands
■ single deep palmar crease* 
■ excess skin/adipose on back of neck

Question 13

True or false: All people with down syndrome experience cognitive delays that can range from severe intellectual impairment to low average intelligence.

Answer 13

True

Question 14

____% of people with down syndrome have congenital heart disease

Answer 14

40

Question 15

____% of people with down syndrome have auditory or visual impairment

Answer 15

40-60

Question 16

In down syndrome, immune deficiency leads to:

Answer 16

■ frequent respiratory infections
■ increased incidence of leukemia
■ thyroid dysfunction

Question 17

atlanto-axial instability in

up to __% of children with down syndrome

Answer 17

15

Question 18

Increased joint laxity in down syndrome leads to

Answer 18

Pes planus
Metatarsus varus
Scoliosis
Patellar subluxation/ dislocation
Hip subluxation/ dislocation

Question 19

A child with down syndrome will be expected to roll over at __ months

Answer 19

6

Question 20

A child with down syndrome will be expected to sit at __ months

Answer 20

11

Question 21

A child with down syndrome will be expected to crawl at __ months

Answer 21

14

Question 22

A child with down syndrome will be expected to creep at __ months

Answer 22

17

Question 23

A child with down syndrome will be expected to stand at __ months

Answer 23

16

Question 24

A child with down syndrome will be expected to walk at __ months

Answer 24

24

Question 25

True or false: kids with down syndrome have normal postural/ equilibrium reactions

Answer 25

False, they’re delayed

Question 26

With down syndrome, teach family how to ____________ rather than promote _______________.

Answer 26

foster movement

dependence

(motivation and environment)

Question 27

True or false: Educate parents in developmental sequence and expected time frame for development of motor
milestones

Answer 27

True

Question 28

Four co-contraction/stability type exercises to improve core strength

Answer 28

■ NDT ball
■ Wheelbarrow
■ Balance challenges
■ dance & gymnastics

Question 29

True or false: Treadmill training of children with Down syndrome hastened the development of independent walking

Answer 29

True

Question 30

___% of children with down syndrome become overweight

Answer 30

25