Down Syndrome Flashcards
What is Trisomy 21 (down syndrome)
faulty cell division of the 21st chromosome (extra)
What is the only means of definitive diagnosis of down syndrome?
Amniocentesis/CVS
What are screening tests for down syndrome and when are they available?
First trimester screen- blood test and US
11-14 weeks
Triple screen- AFP, estriol, hCG
14-16 weeks
What are characteristics of down syndrome at birth?
hypotonia
poor mor response
excess skin on back of neck
flat nasal bridge
single transverse palmar crease
small mouth and large tongue
What is the problem with having a small mouth and large tongue?
leads to trouble feeding
True or False: Congenital heart defects are a common complication associated with down syndrome.
True–about 40%
What are associated MSK problems?
short stature
pes planus, hindfoot valgus and other foot deformities
patellar instability
risk of atlanto-axial instability
obesity
What are associated neuropathology problems?
microcephaly
cerebellum and brainstem are 66% normal size
brain weight is 76% of normal
decreased or absent in myelinization in pre central areas
Why would you have to wait a couple seconds after giving patients with down syndrome instructions?
lowered myelinization causes a latency between stimulus and response
What are other associated problems?
higher rate of infection
increased risk of developing Alzheimers
increased risk of leukemia
life expectancy is 55 years
What are the three types of down syndrome?
Non-dysjunction- most common
translocation
mosaic- rarest, most high functioning
What are important things to remember about treat pts with cognitive impairments?
repetition, consistency
remove irrelevant stimuli
gradually move from simple to complex
immediate consistent positive reinforcement
workin in natural environment is best
