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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?

A

no

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
Q

Secondary Conditions of DS include the following:

A
  • dyslipidemia
  • obesity
  • lack of friends
  • depression
  • deconditioning
26
Q

Disparities in health care include:

A
  • U.S. Department of Health and Human Services

- Importance of exercise

27
Q

What is the life expectancy of people with DS?

A

50s-60s (life expectancy has increased)

28
Q

T/F: death rates accelerate after age 40 and are higher among African Americans w/ DS

A

True

29
Q

Risk factors for mortality in mid-life in ID and DD:

A
  • older age
  • behavioral issues, IQ, limited communication
  • parental death, self-help
  • DS
30
Q

Treatment for DS includes:

A
  • there is no treatment for DS

- people with DS are evaluated and treated for medical complications

31
Q

What are the factors that affect movement in people with DS?

A
  • cerebellum abnormalities
  • joint laxity
  • muscle hypotonia
  • lower strength
  • faster biological aging
32
Q

Movement in people with DS can be characterized as:

A
  • 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
Q

At what age do people with DS typically start walking?

A

age 2

34
Q

Describe the gait of people with DS.

A
  • slow walking to save energy
  • faster, shorter and wider steps
  • greater step width variations
35
Q

What is the gross VO2 at 3.6 mph with people DS compared to people without DS?

A
  • DS: 19.82 ml/kg/min

- non-DS: 13.15 ml/kg/min

36
Q

Why do people with DS have a low aerobic fitness level?

A
  • low activity

- low HR max

37
Q

Describe the relationship people with DS have with PA.

A
  • 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
Q

What is the most common form of exercise for people with DS?

A

walking

39
Q

List the barriers to PA within the person with DS.

A
  • acute health problems
  • low fitness
  • lack of energy
  • low motorskills
  • boredom
40
Q

List the barriers to PA within the environment.

A
  • 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
Q

List the facilitators of PA within the person.

A
  • knowledge on PA and health
  • positive attitude towards exercise
  • determination to succeed
42
Q

List the facilitators of PA within the environment.

A
  • positive social and familial attitudes
  • knowledgeable processionals
  • adapted
  • offering knowledge
  • inclusive
  • social interaction
  • enjoyment
43
Q

What is the role of exercise professionals in people with DS?

A

-to provide adequate and well-designed opportunities for PA and exercise: community-based and school-based

44
Q

In exercising testing for aerobic fitness, maximal testing is preferred over sub-maximal. T/F

A

True

45
Q

How is strength determined in exercise testing for people with DS?

A

1 or 10 or 12 rep max

46
Q

What are the cardiovascular fitness guidelines for DS?

A
  • 3-5 xs per week
  • group activities might be preferred
  • monitor intensity
  • 40-80% VO2R or HRR (progressively increased
47
Q

What is the guidelines for muscular fitness and flexibility?

A
  • same for people w/out DS

- consider safety

EP4133: Exe for Clinical Populations (10 decks)

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