Down Syndrome Flashcards
What is the hallmark reason behind DS?
21st chromosome either non-disjunction, translocation, mosaicism
What is non disjunction?
failure of 21st chromosome to seperate
What is translocation?
long arm of 21st attaches to another chromosome
What is mosaicism?
some but not all cells have a defect
What are prenatal diagnostic tools?
amniocentesis, chorionic villus sampling, US, percutaneous umbilical sampling
What are growth related impairments with DS?
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
What cardiac impairments with DS?
congenital heart defects atrio or ventricle septal leads to decreased exercise endurance
What are nervous system impairments in DS?
hypoplastic strcuture- decreased total brain size
hypotonia, impaired balance (lack of sensory integration), slow reaction time, premature aging (alzheimers)
What are other impairments with DS?
hearing- ear infections and conductive loss
leukemia, thyroid dysfunction
What are common GI impairments with DS?
esophageal or duodenal atresia
upper esophagus not connected to lower stomach could also be esophagus connected to trachea
What are early signs and sx of atresia?
early and massive vomiting due to blockage
tx: urgent surgery
What are MS impairments with DS??
hypoplasia
pelvis and hip dysplasia- risk of subluxation (low tone)
ligamentous laxity- due to collagen defect
What is a common C spine abnormality with DS?
atlantoaxial instability- due to lax transverse ligament
What are yellow/red flags of C spine abnormalities?
neck pain, spasm of neck ms, vertigo, clonus, changes in gait, stocking glove, drop attacks, torticollois (SCM dystonia), weakness
When should patients with DS get a lateral C spine film?
at 3-5 year then prn
What is important to remember about gross motor skills of pts with DS?
the sequence is similar but the rate is slower
What are timelines for gross motor development in DS?
sit by 12 months, creeping 9-27 months, ambulation 12-65 months
What is a max score of GMFM?
85.9-87.9
What are typical cognitive issues with DS?
relatively high social intelligence but impaired explicit memory
What is definition of intellectual disability?
below average IQ score AND limitations in ability to function in areas of daily life
What are medical dx scores for IQ?
less than 70-75- ID mild 55-70 moderate- 40-55 severe- 25-40 profound less than 25
What are common learning issues for pts with DS?
slower response times, can’t remember as much, need practice or will lose skills faster
What are pts with DS more likely to get as they age?
mid cervical arthritis, progressive hip instability, osteoporosis, 30 % get depression
What is shaping in regards to treatment?
break down complex tasks, reward success, progress with smaller steps
