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Pediatric PT > Down syndrome > Flashcards

Down syndrome Flashcards

1
Q

What is the most common chromosomal disorder?

A

down syndrome

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2
Q

Down syndrome occurs in 1 in every ___ babies (6000/yr)

A

1 in every 700

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3
Q

How many people are living with down syndrome in the US?

A

400,000

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4
Q

The frequency of down syndrome (decreases/increases) if the mother is older.

A

increases

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5
Q

What is the average life expectancy of a person with down syndrome?

A

60 years

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6
Q

Infants with down syndrome along with a heart defect(s) are ___x more likely to die within the first year

A

5x

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7
Q

The number of infants that die within the first year has (decreased/increased)

A

decreased

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8
Q

Down syndrome is when you have an extra ____ chromosome.

A

21st –> most common is having 3 copies of the 21st chromosome (Trisomy 21)

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9
Q

Down syndrome can result secondary to what?

A

Nondisjunction (95%)
Mosaicism (1%)
Translocation (3-4%)

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10
Q

definition: Faulty cell division where the embryo ends up with 3 copies of the 21st chromosome

A

nondisjunction (can occur in the sperm or the egg; more common in the egg)

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11
Q

Definition: nondisjunction in the early stages of development that results in some cells with 46 chromosomes and some with 47 chromosomes

A

mosaicism

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12
Q

Mosaicism occurs in about ___% of cases with down syndrome

A

1-2% of cases

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13
Q

Definition: A fragment of the 21st chromosome attaches to another chromosome –> only 23 pairs of chromosomes but just has extra genetic material

A

translocation

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14
Q

Translocation occurs in ____% of down syndrome cases.

A

3-4%

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15
Q

definition: made in the part of the womb called the yolk sac and in the fetal liver, and some amount gets into the mother’s blood

A

Alpha-fetoprotein (AFP)

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16
Q

In Down syndrome, the AFP is (decreased/increased) in the mother’s blood, presumably because the yolk sac and fetus are smaller than usual.

A

decreased

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17
Q

definition: a hormone produced by the placenta, using ingredients made by the fetal liver and adrenal gland.

A

estriol

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18
Q

Estriol is (decreased/increased) in down syndrome pregnancies

A

decreased

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19
Q

Where is the human chorionic gonadotropin hormone produced?

A

placenta

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20
Q

A specific smaller part of the hormone human chorionic gonadotropin, called the _____ , is (decreased/increased) in Down syndrome pregnancies.

A

beta subunit; increased

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21
Q

What does a quad screen examine when testing for down syndrome?

A

Alpha-fetaprotein
Estriol
Human chorionic gonadotropin
Inhibin A

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22
Q

What is currently the most accurate non- invasive test for detecting Down syndrome during pregnancy?

A

Nuchal Translucency

23
Q

definition: a collection of fluid beneath the fetal skin in the region of the fetal neck and is present in all fetuses in early pregnancy. The fluid collection is however increased in many fetuses with Down syndrome and many other chromosomal abnormalities.

A

Nuchal translucency

24
Q

Nuchal Translucency is (decreased/increased) in those with down syndrome

A

increased

25
Q

Overall brain weight of an infant with down syndrome is ___% of normal brain weight

A

76%

26
Q

The weight of the cerebellum and brainstem in an infant with down syndrome is ___% of normal weight

A

66%

27
Q

The number of secondary sulci in a child with down syndrome is (decreased/increased)

A

decreased

28
Q

(true/false) Down syndrome has an increase in myelination

A

FALSE (decrease)

29
Q

What does the brain look like in those with down syndrome?

A

rounded and short

–> decreased A-P diameter

30
Q

(true/false) approx. 8% of infants with down syndrome have a seizure disorder

A

true

31
Q

___% of infants with down syndrome are nearsighted

A

50%

32
Q

___% of infants with down syndrome are farsighted

A

20%

33
Q

___-__% of children with down syndrome have mild to moderate hearing loss

A

60-80%

34
Q

___% of down syndrome cases are born with Congenital heart disease

A

66%

35
Q

What are the most common cardiopulmonary pathologies in those with down syndrome?

A

AV canal defect
ventriculoseptal defects

36
Q

Cardiopulmonary pathologies in those with down syndrome commonly have cardiopulmonary defects repaired in ___.

A

infancy

37
Q

When should screening for AO instability be conducted?

A

2 y/o, repeated @ school age, adolescence, and adulthood

38
Q

definition: Laxity of the odontoid ligament- Excessive movement of C1 on C2 (12-20% incidence)

A

AO instability

39
Q

(true/false) 90% of down syndrome cases develop an umbilical hernia

A

true

40
Q

(true/false) Those with down syndrome have hypertonia and hypoflexibility.

A

FALSE (hypotonia and hyperflexibility)

41
Q

What is the primary cause of developmental delay in down syndrome?

A

Hypotonia and ligamentous laxity

42
Q

(true/false) Intelligence test scores increase with age in those with down syndrome

A

FALSE (decreased)

43
Q

Early onset of ___ is common in those with down syndrome when they are older.

A

dementia

44
Q

What is the prevalence of down syndrome and autism spectrum disorder (ASD)?

A

5-39%

45
Q

What MSK disorders are most common for early onset?

A

Osteoporosis

Mid-cervical arthritis

Foot and hip malalignments

46
Q

Individuals with down syndrome and ASD have DECREASED ______ compared those who have just down syndrome.

A

self help skills
mobility
verbal abilities

47
Q

Individuals with down syndrome and ASD have INCREASED ______ compared those who have just down syndrome

A

Stereotypical behavior
Repetitive language
Self-injurious behavior and overactivity

48
Q

What treatment interactions may be more helpful?

A

Visual interactions

49
Q

(true/false) Those with down syndrome have difficulty maintaining skills that are not practiced regularly.

A

true

50
Q

What is a recommended, reliable tool for PT examination with a patient who has down syndrome?

A

TUG

51
Q

(true/false) Language comprehension is MORE impaired than expressive language in those with down syndrome.

A

FALSE (less impaired)

52
Q

(true/false) Use of SMO’s appear to have a detrimental effect on overall motor development in infants and new walkers who have learned to walk while wearing orthotics.

A

true

53
Q

Healthcare professionals may want to postpone the use of SMO’s in children with DS until they have learned to do what?

A

walk independently

Pediatric PT (14 decks)

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