Down Syndrome

Question 1

What is the hallmark reason behind DS?

Answer 1

21st chromosome either non-disjunction, translocation, mosaicism

Question 2

What is non disjunction?

Answer 2

failure of 21st chromosome to seperate

Question 3

What is translocation?

Answer 3

long arm of 21st attaches to another chromosome

Question 4

What is mosaicism?

Answer 4

some but not all cells have a defect

Question 5

What are prenatal diagnostic tools?

Answer 5

amniocentesis, chorionic villus sampling, US, percutaneous umbilical sampling

Question 6

What are growth related impairments with DS?

Answer 6

growth retardation- short legs but not trunk, short feet and hands, 5th middle phalanx small

skeletal maturity- rate is slower therefore at risk for fx

Question 7

What cardiac impairments with DS?

Answer 7

congenital heart defects atrio or ventricle septal leads to decreased exercise endurance

Question 8

What are nervous system impairments in DS?

Answer 8

hypoplastic strcuture- decreased total brain size

hypotonia, impaired balance (lack of sensory integration), slow reaction time, premature aging (alzheimers)

Question 9

What are other impairments with DS?

Answer 9

hearing- ear infections and conductive loss

leukemia, thyroid dysfunction

Question 10

What are common GI impairments with DS?

Answer 10

esophageal or duodenal atresia

upper esophagus not connected to lower stomach could also be esophagus connected to trachea

Question 11

What are early signs and sx of atresia?

Answer 11

early and massive vomiting due to blockage

tx: urgent surgery

Question 12

What are MS impairments with DS??

Answer 12

hypoplasia

pelvis and hip dysplasia- risk of subluxation (low tone)

ligamentous laxity- due to collagen defect

Question 13

What is a common C spine abnormality with DS?

Answer 13

atlantoaxial instability- due to lax transverse ligament

Question 14

What are yellow/red flags of C spine abnormalities?

Answer 14

neck pain, spasm of neck ms, vertigo, clonus, changes in gait, stocking glove, drop attacks, torticollois (SCM dystonia), weakness

Question 15

When should patients with DS get a lateral C spine film?

Answer 15

at 3-5 year then prn

Question 16

What is important to remember about gross motor skills of pts with DS?

Answer 16

the sequence is similar but the rate is slower

Question 17

What are timelines for gross motor development in DS?

Answer 17

sit by 12 months, creeping 9-27 months, ambulation 12-65 months

Question 18

What is a max score of GMFM?

Answer 18

85.9-87.9

Question 19

What are typical cognitive issues with DS?

Answer 19

relatively high social intelligence but impaired explicit memory

Question 20

What is definition of intellectual disability?

Answer 20

below average IQ score AND limitations in ability to function in areas of daily life

Question 21

What are medical dx scores for IQ?

Answer 21

less than 70-75- ID
mild 55-70
moderate- 40-55
severe- 25-40
profound less than 25

Question 22

What are common learning issues for pts with DS?

Answer 22

slower response times, can’t remember as much, need practice or will lose skills faster

Question 23

What are pts with DS more likely to get as they age?

Answer 23

mid cervical arthritis, progressive hip instability, osteoporosis, 30 % get depression

Question 24

What is shaping in regards to treatment?

Answer 24

break down complex tasks, reward success, progress with smaller steps