Final Exam (Lecture 25 - Down Syndrome)

Question 1

What is the cause of Down syndrome?

Answer 1

Full or partial extra copy of chromosome 21
- Trisomy 21 (nondisjunction, extra chromosome) - 95%
- Translocation (whole/part is attached/translocated to different chromosome instead of being separate) - 4%
- Mosaicism (cells themselves are different, division problems happen post-fertilization) - 1%

Question 2

Down syndrome is the most ________ occurring ___________ condition

Answer 2

commonly
chromosomal

Question 3

Specific race/economic group that is particularly affected?

Answer 3

NO
Affects all races/economic levels equally

Question 4

What is prenatal screening?

Answer 4

Screening baby while still in the womb for disabilities/diseases
Supposed to allow for more time to prepare for parents, but abortion rates increased
If child had DS, 75% abort§

Question 5

Mother’s age and Down syndrome stats

Answer 5

Incidence level increases with maternal age
But because of fertility rates among younger women, 80% of children with DS are born to women under 35
20 years - 1 in 2,000
49 years - 1 in 10

Question 6

DS community preferred language

Answer 6

Person-first, usually parents advocating this for their children
ex. a child with Down syndrome
“Typically developing” or “typical” instead of “normal”
“Intellectual disability” or “cognitive disability” is ok

Question 7

Associated impairment and health concerns

Answer 7

• Mild to moderate intellectual impairment (100%, various levels of communication)
• Congenital heart disease (50%, usually life-long, affects aerobic capacity usually)
• Respiratory problems (infections because low muscle tone = low ability to cough, can’t expel viruses)
• Endocrine problems (hypothyroidism, short stature, low energy + arousal, affects hunger + mood)
• Obesity (linked to endocrine, and diet, activity usually low)
• Hearing + visual impairments (50% have hearing loss, many are cross-eyes)
• Joint laxity (atlantoaxial and patellofemoral) (30%, C1+C2 shift anteriorly and impede on spinal cord, collagen is more lax)
• Hypotonic (low) muscle tone + control
• Poor postural control

Question 8

What are high-risk activities?

Answer 8

Anything that requires neck flexion, because of atlantoaxial joint laxity, and be mindful of patellofemoral as well
They can, but just be cautious and try to limit it

Question 9

Preferred modes of intruction

Answer 9

Visual instruction is WAY better, reaction time is less because they can process the info better

Question 10

Supports for people with DS

Answer 10

Downright Lucky (go visit newborns with DS, give them a care package, support group)
World DS Day (March 21st, 3/21 like trisomy-21)