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
what is cellular senescence
cell death
occurs earlier in the brain in DS pop than gen pop
first seen in physical appearance (glasses, hearing aids, etc)
higher risk of cancer in DS pop
what are other age related conditions prevalent in the DS pop
alzheimers
menopause
young onset dementia
what are the differences in menopause in the DS pop
occurs around mid 30-40 (very early)
has huge health implications
higher incidences of ovarian and breast cancer
sleep problems
long exposure to birth control
no regular checkups or screening
what is the prevalence of young onset dementia in the DS pop
50-80% of pop will develop around 40
by 50-60 years old, 90% of pop will have it
what are the big signs of dementia
mood changes (biggest indicator)
changes in memory/cognition
what are the risk factors for dementia
no PA
poor nutrition
social isolation
no hobbies
what is the problem with caretakers for individuals with DS
main caretakers are parents
aging with them
accuracy of info heading to doctors declines so treatment suffers
no longer a good indicator of their health
can people with DS live independently
yes
still need regular support
usually live with caregiver until they pass and move into a group home
can have children, relationships, jobs, etc
