Mod 6-4 Down Syndrome

Question 1

What is the most common of the chromosomal disorder?

Answer 1

Down syndrome

Question 2

One out of every ____ babie are born with down syndrome.

Answer 2

700

Question 3

Down syndrome is a _______ disorder.

Answer 3

congenital

Question 4

What is down syndrome characterized by?

Answer 4

• Physical malformations
• Mental retardation

Question 5

What is down syndrome also referred to as and why?

Answer 5

Trisomy 21 because the disorder presents with extra meterial in chromosome 21 in about 95% of the cases.

*also mongolism

Question 6

What is the etiology of down syndrome?

Answer 6

The cause is not clear.

Question 7

When does the error appear that causes down syndrome?

Answer 7

• During germ cell (reporductive cell) division
• The 21st chromosome pair fails to separate properly when the ovum is being formed.
• Egg contains 24 chromosomes and normal sperm carrying 23 chromosomes the child is born with an extra chromosome
• There are three strands of a number 21 chromosome instead of two

Question 8

What increases the chances of down syndrome?

Answer 8

more common in mothers in the oder child-bearing ages

Question 9

In women over the age of 45, one in ___ live births will be a baby with down syndrome.

Answer 9

25

Question 10

In a child born with 47 chromosomes will often have what areas affected?

Answer 10

• musculoskeletal system
• heart
• GI system
• brain
• immune system

Question 11

What are some facial features of someone with down syndrome?

Answer 11

• Wide set eyes
• Short, flat nose
• Small skull
• Tongue that protrudes through partially open mouth
• Epicanthial folds on sides of eyes (he said nose?) covering inner canthus

Question 12

What are some features of down syndrome that are not on the face?

Answer 12

• Short broad hands and feet
• Wide gap between first and second toes
• Little finger curves inward
• Characteristic crease in palm of hand

Question 13

What is the typical height of someone with down syndrome?

Answer 13

• Females - 5’
• Males 5’4”

Because their musculoskeletal system is affected - they are shorter in stature.

Question 14

Other than height, what else is a cause of skeletal abnormalities in those with down syndrome?

Answer 14

• Short middle phalanx on 5th finger which turns inward
• Square shaped vertebral bodies
• Unusually shaped pelvis

Question 15

What happens to the muscles and joints of those with down syndrome?

Answer 15

• Muscles are weak with poor tone
• Joints tend tobe very mobile

Question 16

Those with Down syndrome often have poor ______ and ___% have congenital heart disease.

Answer 16

eyesight; 40%

Question 17

Those with down syndrome sometimes have an IQ as high as ___, but more commonly in the range of __-__.

Answer 17

80; 30-50

Question 18

The GI tract is often affected and have a higher than average occurence of what disorders?

Answer 18

• Duodenal obstruction from duodenal atresia (absence or closure of lumen)
• Hirschsprung’s disease (congenital megacolon)

Question 19

What are some medical complications of down syndrome?

Answer 19

• Respiratory infections
• Leukemia

*due to less than normal immune system

Question 20

Those with down syndrome often have early onset ____________.

Answer 20

Alzheimer’s

Question 21

What is the classic radiographic sign of duodenal atresia?

Answer 21

Air in the stomach and the duodenum, but none beyond the duodenum.

Question 22

When is atresia present? Congenital megacolon (Hirschsprung’s)?

Answer 22

At birth, it does not develop with age. Hirschsprung’s disease is usually present at birth as well.

*However not all megacolons are congenital, some are acquired.

Question 23

What is the effect of down syndrome on radiographic technique?

Answer 23

there is none