Lecture 5: Down Syndrome Flashcards
Aneuploidy
To many or to few chromosomes
Trisomy
Three copies of the chromosome
Monosomy
One copy of the chromosome
Missing part of a chromosome
Deletions
* partial monosomy
Extra parts of chromosomes
Duplications
* Partial trisomy
Translocations
Part of all of a chromosome attached to another chromosome
What is Trisomy 21
Down syndrome
Think 3-2-1
3 copies of chromosome 21 (instead of 2)
What kind of downsyndrome is most common
Trisomy 21
this accounts for 95% of DS
3 separate copies of chromosome 21
What is translocation down syndrome
part of all of an extra chromosome 21 attaches to another chromosome
3%
What is Mosaic downsyndrome?
Some cells have 3 copies of chromosome 21 while other cells are normal and only have 2
these guys are the least affected
what is the leading risk factor for downsyndrome?
Maternal age
for DS
What is the most common chromosomal disorder?
DS
KNOW: everyone w/ DS has hypotonicity
Obstructive sleep apnea is very common in kids w/ DS - ask if they snore
* kid comes in cranky and doesnt sleep well think this
How DS is tested for
physical features of DS
Tounge sticks out because the mouth is small
Common w/ DS
what is the average IQ of someone w/ DS?
average = 50
Range = 35-69
Reemeber below 70 is when you’re really having issues
Highest cause of intellectual disability
Life expectancy for DS is going up
For DS
IQ is a snapshot of one moment in time and 1 test
* highly variable
saftey
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
be careful while changing diapers, can dislocate legs
What does hypoplasia mean?
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
w/ DS
reduced brain volume = 75% of normal
Cerebellum = 66% of normal (so coordination is impacted)
Smaller Hippocampus
hypotonia classification = sucks dick
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.
dont memorize
just make sure were moving through milestones
kids w/ hypotonia dont feel things as well = takes longer to potty train
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
people w/ DS sit in slouched position which changes all the body mechanics
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
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
