down syndrome Flashcards
what is down syndrome
most common cause of ID (not an ID itself)
result of an extra chromosome (21)
whole body disability
is DS always a full duplication of chromosome 21
not always, can be partial
- degree of duplication results in different phenotypic expression of DS
what are the risk factors for DS
maternal age
- based on age of maternal egg (older = longer time for mutations to occur)
- <1% risk before 35, increases to 5% after
what is the chance of having a second child with DS after the first has DS
still very low as its a genetic mutation
risk increases with age not previous history
what are the clinical features of DS
- wider, flatter face
- larger eyes
- speak different due to oversized tongues
- tend to be short and overweight
what GI issues can be prevalent in the DS population
- can be born with obstruction of intestinal tract - needs surgery - some given feeding tube
- higher risk of celiac disease
what are the three main musculoskeletal concerns in the DS population
hypotonia
hip and knee joint instability
atlanto axial instability
what is hypotonia in DS
low muscle tone
- usually in ankles (high incidence of pronation)
- end up wearing ill fitting shoes
what is hip and knee joint instability in DS population
hypermobile and lax ligaments
tend to dislocate joints often
what is atlanto axial instability
C1-C2 joint (responsible for 50% of neck motion)
- 10-30% of pop are diagnosed with this
- lax ligaments in this area, therefore way more mvmt than needed
- can dislocate this joint
- headaches, neck pain, and neurological symptoms are common
what is heart health like in the DS population
50% born with heart defects
- several have 1 or more surgeries before age 5 (most are corrected)
- can impact long term (careful with exercise)
what are atrioventricular defects
most common heart defect in DS
hole between the left and right side of the heart
what is tetralogy of fallot
4 heart defects at the same time
- pulmonary valve stenosis (narrowing of pulmonary valve)
- ventricular septal defect (hole between 2 chambers)
- aorta in the wrong place (attached incorrectly)
- RV hypertrophy (thickening of the RV)
what is cognitive development like in DS
some degree of ID (mild to mod)
social development is typical
lag in language development
slower short term memory and language processing (more prevalent in young kids)
what is different about aging in DS
experience accelerated aging
- bio and chronological ages don’t match
