Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

Simmons NURP 503 Exam 3 > 8: Down Syndrome > Flashcards

8: Down Syndrome Flashcards

1
Q

What 5 heart conditions are common with down syndrome?

A
  1. ASD (most common)
  2. VSD
  3. Tetralogy of Fallot
  4. PDA
  5. MVP (in adolescence)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What are the 3 most common physical characteristics of down syndrome?

A
  1. Generalized hypotonia
  2. Epicanthal folds
  3. Transverse palmar creases
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

T/F Newborns weigh less, are typically shorter, and have smaller occipital frontal circumference as compared to normal infants.

A

True

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

T/F Etiologies of down syndrome include frequency of intercourse.

A

True. Others are:

  1. A genetic predisposition to nondisjunction.
  2. Autoimmune action.
  3. Hormonal alterations in aging women.
  4. Viral disease.
  5. Environmental factors.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

T/F In males there is an increase in urogenital conditions, including micropenis and hypospadias.

A

True

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Hypotonia includes laxity in ligament structure, which interferes with _____ development.

A

Gross motor

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

In nondisjunction, a _____ is produced with an extra copy of chromosome 21 (24 chromosomes total).

A

Gamete

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

This is made by the growing fetus and found in amniotic fluid, fetal blood, and maternal blood.

A

Alpha fetoprotein (AfP)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Down Syndrome is caused by a random event during the formation of _____.

A

Sex cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Down syndrome screening is usually offered to women over age _____.

A

35

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Is nondisjunction or translocation responsible for the majority of down syndrome?

A

Nondisjunction (95%)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Early signs include head tilt, torticollis, or deterioration in gait.

A

Atlantoaxial instability

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

T/F The level of disability in down syndrome can vary.

A

True. Varies d/t extent of extra copy, genetic history, and pure chance.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

T/F Increased maternal age is a risk factor for down syndrome.

A

True

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

How is down syndrome screened in the 1st trimester?

A

U/S nuchal translucency + blood test (PAPP-A and HCG).

Combination detects 82-87%.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is the life expectancy?

A

60

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

T/F There are more than 50 diagnostic physical characteristics of down syndrome.

A

False. There are more than 50, but they are not diagnostic.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

How is down syndrome detected in the 2nd trimester (2)?

A
  1. Multiple marker screening at 15-20 weeks (AFP + Estriol + HCG)
  2. Quad screen at 15-20 weeks (AFP + Estriol + HCG + Inhibin A)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

The child has the usual 2 copies of chromosome 21, but also has additional material from 21 attached to another chromosome.

A

Translocation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

There is an increased risk of what cancer?

A

Leukemia (10-20x)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Name the MSK and motor ability defects (7).

A
  1. Flat feet
  2. Scoliosis
  3. Dislocated hips
  4. Atlantoaxial subluxation
  5. Joint and muscle pain
  6. Muscle fatigue
  7. Wide-based gait
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

When does the tendency to be overweight start?

A

2 yo, though at every age they are above 85%.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Is nondisjunction more common in the maternal or paternal gamete?

A

88% from maternal. 8% from paternal. Chromosomes can fail to pair or fail to exchange genetic material, or both. Increases with maternal age.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What cardiac defect may present in adolescents with down syndrome?

25
T/F Females have delayed onset of puberty.
False. Menarche at 12. Most have regular cycles with ovulation. This can be a concern, as children have 50% chance of having down syndrome.
26
How does nondisjunction happen during formation of the egg?
The 2 copies of chromosome 21 fail to separate. This causes a total of 47 chromosomes when the normal gamete combines with the nondisjunction gamete.
27
What new test provides high accuracy and few false positives?
Free fetal DNA test. Requires blood draw since fetal cells circulate in maternal blood.
28
The chance of down syndrome is 1 in _____ for women above 45 years of age.
19
29
What is the most common cardiac anomoly?
Atrioventricular septal defect (ASD)
30
Name screening recommendations for down syndrome (7).
1. EKG and cardiac U/S: Birth 2. Hearing: 6/12 months, then yearly 3. Thyroid (T4/TSH): 6 months, then yearly 4. Eyes: 6 months, then yearly 5. Teeth: 2 years, then yearly 6. Sleep study: 3-4 yo (earlier if needed) 7. Neck X-rays: 3-5 yo
31
What are associated GI malformations (3)?
1. Hirschprung's disease (affects large intestine and causes problems passing stool). 2. Pyloric stenosis (blocks food from entering small intestine). 3. Duodenal atresia (absence or complete closure of a portion of the lumen of the duodenum).
32
What is the incidence of down syndrome?
1:691 (6,000 new cases/year)
33
AFP can help measure and detect what 4 things?
1. Neural tube defects 2. Some renal/urinary tract defects 3. Turner's Syndrome 4. Down Syndrome
34
Only some cells have the extra copy of chromosome 21.
Mosaicism
35
Recent data suggest paternal age over _____ increases risk.
42
36
This is made by the placenta and fetal liver.
Estriol
37
To detect atlantoaxial instability, when should 1 set of cervical spine films be taken?
3-5 yo (Special Olympics participants need periodic screening)
38
How does mosaicism occur?
Abnormal cell division AFTER fertilization.
39
In translocation, part of chromosome 21 becomes _____ before or at conception.
Attached onto another chromosome
40
T/F Down syndrome is more common in Caucasians.
False. Occurs across all races and ethnic groups.
41
T/F Most have moderate IQ of 40-55, but cognitive function can decline with age.
True. May also have behavior disorders, depression, and autistic-like symptoms.
42
Down syndrome is an extra copy of chromosome _____.
21
43
When is velocity of linear growth most reduced (2)?
6-24 months and again in adolescence.
44
This product is made by the placenta.
HCG
45
Which leukemia usually has a good outcome?
Acute lymphocytic leukemia (ALL)
46
What is the most effective screening test?
Integrated testing. Uses both 1st and 2nd trimester tests. 5% false positives.
47
What are the 2 invasive diagnostic tests and when are they performed?
1. CVS after 10 weeks (Karyotyping of placental tissue from cervix or abdomen). 2. Amniocentesis at ~15 weeks (Karyotyping of fetal skin cells or amniocytes in amniotic fluid).
48
This results from laxity between C1 and C2.
Atlantoaxial instability
49
Nondisjunction is a _____ event while cells are dividing.
Meiotic
50
80% of down syndrome babies are born to women _____.
Under 35
51
Is down syndrome more frequent in males or females?
Males
52
Which hypothalamic dysfunction is common?
Growth hormone defects
53
This form of down syndrome can be inherited.
Translocation
54
How effective is the quad screen at detecting down syndrome?
81% (7% false positives)
55
Now that down syndrome children live to an older age, what are we discovering as additional risks (2)?
1. Premature aging | 2. Alzheimer's
56
Which type of transmission is not genetic (2)?
Nondisjunction | Mosaicism
57
More fluid collects here when abnormalities are present.
Nuchal translucency
58
T/F Mosaicism can have varying levels of down characteristics.
True. The more cells affected the greater the number of characteristics.
59
Only about _____% of children with down syndrome have translocation.
1-2%

Simmons NURP 503 Exam 3 (20 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions