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EP4133: Exe for Clinical Populations > Final lecture 12 > Flashcards

Final lecture 12 Flashcards

1
Q

a chromosomal condition where there is a presence of or all of an extra copy of the 21st chromosome

A

Down Syndrome

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2
Q

What are the physical signs of DS?

A
  • short height and leg length
  • flat face with an upward slant to the eye
  • short neck
  • small ears
  • small mouth
  • tiny white spots on iris of the eye
  • small hands and feet
  • a single crease across the palm of the hand
  • small pinky fingers
  • low muscle tone
  • loose ligaments
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3
Q

3 different causes of DS?

A
  • Trisomy 21
  • Translocation
  • Mosaic trisomy 21
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4
Q
  • affects 95% of cases
  • caused by meiotic nondisjunction
    • gamete has extra copy of chromosome 21
    • gamete with 24 chromosomes
    • most commonly maternal gamete
  • embryo has 47 chromosomes (3 copies of chromosome 21)
A

Trisomy 21 DS

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5
Q
  • affects 4% of cases
  • gamete with long arm of chromosome 21 attached to another chromosome (usually chromosome 14)
    • just as likely to come from fathers as mothers
A

Translocation DS

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6
Q

In translocation DS, fertilization results in karyotype with chromosomes, which includes:

A
  • 2 copies of chromosome 21
  • 1 copy of chromosome 14
  • 1 copy of chromosome 14/21
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7
Q
  • affects 1% of cases

- some cells are normal and other have Trisomy 21

A

Mosaicism DS

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8
Q

What are some examples of Mosaicism DS?

A
  • trisomy 21 in blood cells, but not in skin

- trisomy 21 in some brian cells; not in all brain cells

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9
Q

T/F: physiological and cognitive impairment may be less with Mosaicism DS

A

true

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10
Q

Is DS inherited?

A
  • In most cases, no.

- mistake in cell division in development of egg, sperm, or embryo

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11
Q

Which type of DS can be inherited?

A

translocation (happens only in about half of newborns whose parents carry the gene)

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12
Q

The chance of passing on translocation depends on the sex of the carrier of rearranged chromosome 21. Which sex is at a higher risk?

A

Mother (10-15%)

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13
Q

What is the risk of a father passing on the translocation gene?

A

about 3%

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14
Q

The prevalence of DS in 2008 was:

A

-250,700 persons in U.S.

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15
Q

At birth the prevalence of DS is:

A

11.8-14.5 per 10,000 live births (large increase)j

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16
Q

The prevalence of DS among U.S. children and adolescents is:

A

-12 per 10,000 persons

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17
Q

The prevalence of DS in the U.S. is lower among black than white youth. T/F

A

True

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18
Q

How much higher are medical cost for children with

DS than children without?

A

12-14 times higher (even higher w/ congenital heart defects)

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19
Q

Families of children with DS are how much more likely to experience financial problems than families of other CSHCN?

A

1-8 times more likely

20
Q

In Australia, health costs are how much higher for children 0-4 years old with DS than the general population?

A

4.2 times higher

21
Q

Risk factors of DS

A
  • maternal age (risk increases w/ age

- parent carrier of translocation

22
Q

Can DS be prevented?

23
Q

Prenatal screenings are recommended to check for DS and these include:

A
  • ultrasound
  • blood tests
  • amniocentesis
  • risks and benefits
24
Q

Associated Conditions of DS include the following:

A
  • congenital heart defects
  • hematology disorders
  • endocrine abnormalities
  • gastrointestinal malformations
  • orthopedic problems
  • neurological conditions
  • sensory impairments
  • skin conditions
  • dental problems
  • epilepsy
  • psychiatric disorders
  • Alzheimer’s disease
  • cognitive limitations
25
Secondary Conditions of DS include the following:
- dyslipidemia - obesity - lack of friends - depression - deconditioning
26
Disparities in health care include:
- U.S. Department of Health and Human Services | - Importance of exercise
27
What is the life expectancy of people with DS?
50s-60s (life expectancy has increased)
28
T/F: death rates accelerate after age 40 and are higher among African Americans w/ DS
True
29
Risk factors for mortality in mid-life in ID and DD:
- older age - behavioral issues, IQ, limited communication - parental death, self-help - DS
30
Treatment for DS includes:
- there is no treatment for DS | - people with DS are evaluated and treated for medical complications
31
What are the factors that affect movement in people with DS?
- cerebellum abnormalities - joint laxity - muscle hypotonia - lower strength - faster biological aging
32
Movement in people with DS can be characterized as:
- delayed gross motor skill development - reduced and more variable movement performance - coordination difficulties - slower and more variable reaction time - co-contraction during single joint movements - preference for slow movements - favor safety and accuracy in their movements
33
At what age do people with DS typically start walking?
age 2
34
Describe the gait of people with DS.
- slow walking to save energy - faster, shorter and wider steps - greater step width variations
35
What is the gross VO2 at 3.6 mph with people DS compared to people without DS?
- DS: 19.82 ml/kg/min | - non-DS: 13.15 ml/kg/min
36
Why do people with DS have a low aerobic fitness level?
- low activity | - low HR max
37
Describe the relationship people with DS have with PA.
- likely lower than non-DS people - likely declines with age - shorter bouts of MVPA - a large proportion does not meet PA guidelines - wide variation of leisure activities
38
What is the most common form of exercise for people with DS?
walking
39
List the barriers to PA within the person with DS.
- acute health problems - low fitness - lack of energy - low motorskills - boredom
40
List the barriers to PA within the environment.
- lack of accessible, inclusive, and adapted programs - poorly designed exercise programs - professional assistance - transportation difficulties - negative attitudes toward people w/ disabilities - competing family responsibilities - parental education and income - lack of friends
41
List the facilitators of PA within the person.
- knowledge on PA and health - positive attitude towards exercise - determination to succeed
42
List the facilitators of PA within the environment.
- positive social and familial attitudes - knowledgeable processionals - adapted - offering knowledge - inclusive - social interaction - enjoyment
43
What is the role of exercise professionals in people with DS?
-to provide adequate and well-designed opportunities for PA and exercise: community-based and school-based
44
In exercising testing for aerobic fitness, maximal testing is preferred over sub-maximal. T/F
True
45
How is strength determined in exercise testing for people with DS?
1 or 10 or 12 rep max
46
What are the cardiovascular fitness guidelines for DS?
- 3-5 xs per week - group activities might be preferred - monitor intensity - 40-80% VO2R or HRR (progressively increased
47
What is the guidelines for muscular fitness and flexibility?
- same for people w/out DS | - consider safety

EP4133: Exe for Clinical Populations (10 decks)

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