Lecture 5: Down Syndrome

Question 1

Aneuploidy

Answer 1

To many or to few chromosomes

Question 2

Trisomy

Answer 2

Three copies of the chromosome

Question 3

Monosomy

Answer 3

One copy of the chromosome

Question 4

Missing part of a chromosome

Answer 4

Deletions
* partial monosomy

Question 5

Extra parts of chromosomes

Answer 5

Duplications
* Partial trisomy

Question 6

Translocations

Answer 6

Part of all of a chromosome attached to another chromosome

Question 7

What is Trisomy 21

Answer 7

Down syndrome

Think 3-2-1

3 copies of chromosome 21 (instead of 2)

Question 8

What kind of downsyndrome is most common

Answer 8

Trisomy 21

this accounts for 95% of DS

3 separate copies of chromosome 21

Question 9

What is translocation down syndrome

Answer 9

part of all of an extra chromosome 21 attaches to another chromosome

3%

Question 10

What is Mosaic downsyndrome?

Answer 10

Some cells have 3 copies of chromosome 21 while other cells are normal and only have 2

these guys are the least affected

Question 11

what is the leading risk factor for downsyndrome?

Answer 11

Maternal age

Question 12

for DS

Question 13

What is the most common chromosomal disorder?

Answer 13

DS

Question 14

KNOW: everyone w/ DS has hypotonicity

Question 15

Obstructive sleep apnea is very common in kids w/ DS - ask if they snore
* kid comes in cranky and doesnt sleep well think this

Question 16

Question 17

How DS is tested for

Question 18

physical features of DS

Tounge sticks out because the mouth is small

Question 19

Common w/ DS

Question 20

what is the average IQ of someone w/ DS?

Answer 20

average = 50

Range = 35-69

Reemeber below 70 is when you’re really having issues

Highest cause of intellectual disability

Question 21

Life expectancy for DS is going up

Question 22

For DS

Question 23

IQ is a snapshot of one moment in time and 1 test
* highly variable

Question 24

Answer 24

Question 25

saftey

Question 26

precautions for DS: * Atlantoaxial instability (im guessing because their tone is lower) * Dislocation of joints (same thing w/ the low tone) - they can like basically turn off their muscles * Feeding Difficulty * Cardiac - think zipper scar

Question 27

be careful while changing diapers, can dislocate legs

Question 28

What does hypoplasia mean?

Answer 28

Under development W/ DS * Neurological and musculoskeletal system always impaired * Potentially every system in the body may be affected - but w/ the kind that doesnt affect every cell this happens * Systems involved affect overall prognosis * Variability in number of systems involved and to what degree * Large variations in clinical presentations and outcomes

Question 29

w/ DS reduced brain volume = 75% of normal Cerebellum = 66% of normal (so coordination is impacted) Smaller Hippocampus

Question 30

hypotonia classification = sucks dick

Question 31

Doesnt care if child is 4 months old and a little behind. As long as they're excited to play w/ toys and are meeting miles stones in order and are playing, im happy.

Question 32

dont memorize just make sure were moving through milestones

Question 33

kids w/ hypotonia dont feel things as well = takes longer to potty train

Question 34

Aging w/ DS * Thyroid dysfunction * Cardiovascular disorders - can be from birth and some come on as they age - this can be because they eat unhealthy and do less EX and some is genetic code * Obesity * MSK disorders - more wt on body = problems here * Alzheimer Disease - often happens by 50s/60s * Depression

Question 35

people w/ DS sit in slouched position which changes all the body mechanics

Question 36

WOrk: Competitive - everyone does this and may the best one win - this is a normal job Supported - someone helps them do their job Sheltered - barley does anything - they need something to do * typically barley paid for this

Question 37

hypotonia doesnt mean you can't build muscle tone. Its a whole lot harder so we should be really focusing on this and not avoiding it