Down syndrome

Question 1

What is the most common chromosomal disorder?

Answer 1

down syndrome

Question 2

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

Answer 2

1 in every 700

Question 3

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

Answer 3

400,000

Question 4

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

Answer 4

increases

Question 5

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

Answer 5

60 years

Question 6

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

Answer 6

5x

Question 7

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

Answer 7

decreased

Question 8

Down syndrome is when you have an extra ____ chromosome.

Answer 8

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

Question 9

Down syndrome can result secondary to what?

Answer 9

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

Question 10

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

Answer 10

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

Question 11

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

Answer 11

mosaicism

Question 12

Mosaicism occurs in about ___% of cases with down syndrome

Answer 12

1-2% of cases

Question 13

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

Answer 13

translocation

Question 14

Translocation occurs in ____% of down syndrome cases.

Answer 14

3-4%

Question 15

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

Answer 15

Alpha-fetoprotein (AFP)

Question 16

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

Answer 16

decreased

Question 17

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

Answer 17

estriol

Question 18

Estriol is (decreased/increased) in down syndrome pregnancies

Answer 18

decreased

Question 19

Where is the human chorionic gonadotropin hormone produced?

Answer 19

placenta

Question 20

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

Answer 20

beta subunit; increased

Question 21

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

Answer 21

Alpha-fetaprotein
Estriol
Human chorionic gonadotropin
Inhibin A

Question 22

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

Answer 22

Nuchal Translucency

Question 23

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.

Answer 23

Nuchal translucency

Question 24

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

Answer 24

increased

Question 25

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

Answer 25

76%

Question 26

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

Answer 26

66%

Question 27

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

Answer 27

decreased

Question 28

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

Answer 28

FALSE (decrease)

Question 29

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

Answer 29

rounded and short --> decreased A-P diameter

Question 30

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

Answer 30

true

Question 31

___% of infants with down syndrome are nearsighted

Answer 31

50%

Question 32

___% of infants with down syndrome are farsighted

Answer 32

20%

Question 33

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

Answer 33

60-80%

Question 34

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

Answer 34

66%

Question 35

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

Answer 35

AV canal defect ventriculoseptal defects

Question 36

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

Answer 36

infancy

Question 37

When should screening for AO instability be conducted?

Answer 37

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

Question 38

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

Answer 38

AO instability

Question 39

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

Answer 39

true

Question 40

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

Answer 40

FALSE (hypotonia and hyperflexibility)

Question 41

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

Answer 41

Hypotonia and ligamentous laxity

Question 42

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

Answer 42

FALSE (decreased)

Question 43

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

Answer 43

dementia

Question 44

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

Answer 44

5-39%

Question 45

What MSK disorders are most common for early onset?

Answer 45

Osteoporosis Mid-cervical arthritis Foot and hip malalignments

Question 46

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

Answer 46

self help skills mobility verbal abilities

Question 47

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

Answer 47

Stereotypical behavior Repetitive language Self-injurious behavior and overactivity

Question 48

What treatment interactions may be more helpful?

Answer 48

Visual interactions

Question 49

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

Answer 49

true

Question 50

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

Answer 50

TUG

Question 51

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

Answer 51

FALSE (less impaired)

Question 52

(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.

Answer 52

true

Question 53

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

Answer 53

walk independently