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PHTH 531 > Genetic and Developmental Conditions > Flashcards

Genetic and Developmental Conditions Flashcards

1
Q

_______ = microscopic structures present in the nucleus of each cell which contain all of our genes

A

chromosomes

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2
Q

_____ = one of the numbered chromosomes, arranged from largest to smallest

A

autosomes

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3
Q

______ = a portion of a chromosome, too small to be seen under a microscope, which encodes a particular function

A

gene

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4
Q

_______ = different versions of a gene, located at the same place on a chromosome

A

allele

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5
Q

If two alleles are the same they are ______, if they are different they are _______

A

homozygous; heterozygous

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6
Q

_______ inheritance = 2 carrier parents

A

recessive

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7
Q

_______ inheritance = 1 affected parent, one normal

A

dominant

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8
Q

X - linked genetics: if father is affected, how will this effect the children?

A

girls will be carriers; boys will not have the disease or be carriers

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9
Q

X - linked genetics: if mother is the carrier, how will this effect the children?

A

50% change of girls being carriers; 50% change of boys having the disease

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10
Q

Can boys be carriers if their mother is a carrier of a x - linked genetic abnormality?

A

NO

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11
Q

What are 5 specials s/s of those effected with chromosomal abnormalities?

A
  1. dysmorphic features
  2. growth restrictions
  3. developmental delay
  4. hypotonia
  5. cardiac impairments
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12
Q

Down syndrome = 3 copies of chromosome ___ in each cell

A

21

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13
Q

What are the 2 possible causes of DS, at the chromosomal level?

A
  1. nondisjunction

2. translocation

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14
Q

Is nondisjunction or translocation more common?

A

nondisjunction (97% of cases)

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15
Q

_______ = paired copy of a chromosome does not separate at cell division

A

nondisjunction

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16
Q

______ = long arm of chr 15, 21, or 22 breaks off and reattaches

A

translocation

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17
Q

__% of children with DS will have heart defects

A

40

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18
Q

What 5 brain structures are especially smaller in those with DS?

A
  1. cerebrum
  2. cerebellum
  3. hippocampus
  4. pons
  5. maxillary bodies
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19
Q

Atlanto-axial stability should be checked at age ___ for those with DS.

A

5

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20
Q

Prader-Willi syndrome = ______ of chr 15 or defect

A

deletion (70% of cases)

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21
Q

Chr 15 genes code for ?

A

ribonucleoprotein N

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22
Q

Prader-Willi syndrome may be related to a disturbance in the ________

A

hypothalamus

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23
Q

DMD = __-linked disorder

A

X

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24
Q

DMD = mutation of a single gene; ____ fails to produce dystrophin protein

A

Xp21

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25
Q

Dystrophin links sarcolemma to _______; without dystrophin, sarcolemma is susceptible to damage/necrosis

A

actin

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26
Q

In DMD, muscle cells are replaced by ___ and ____ = contractors develop

A

fat; CT

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27
Q

DMD = progressive, (asymmetrical/symmetrical) muscle wasting

A

symmetric

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28
Q

How is DMD Dx?

A
  1. physical exam
  2. CK levels
  3. genetic testing
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29
Q

4 s/s of DMD?

A
  1. calf pseudohypertrophy
  2. Gower’s sign
  3. developmental signs
  4. gait
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30
Q

Pt’s with DMD should avoid (concentric/eccentric) exercises.

A

eccentric

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31
Q

Early PT intervention for pt’s with DMD should focus on ______ development and ______ training

A

motor; functional

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32
Q

_____ MD = more slowly progressive variant of DMD, have some dystrophin

A

Beckers

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33
Q

_____ MD = diagnosed shortly after birth, variable prognosis

A

congenital

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34
Q

_________ MD = rare and affects males and females equally

A

facioscapulohumeral

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35
Q

________ MD = most common after DMD, least severe

A

myotonic

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36
Q

______-_____ MD = humeral, peroneal and some facial involvement

A

Emery-Dreifus

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37
Q

_____ = anterior horn degeneration

A

SMA

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38
Q

Is SMA a LMN disease or UMN disease?

A

LMN

39
Q

With SMA, the extent of the ______ = severity of the disease

A

lesion

40
Q

Type 1 SMA?

A

Wergnig-Hoffman disease

41
Q

Type 2 SMA?

A

Intermediate form

42
Q

Type 3 SMA?

A

Kugelberg-Welander disease

43
Q

Type 4 SMA?

A

Adult onset

44
Q

2 impairments seen in SMA?

A
  1. hypotonia

2. weakness

45
Q

Is the weakness seen in SMA asymmetric or symmetric? More proximal or distal?

A

symmetric; proximal

46
Q

Treatment of SMA?

A
  1. symptomatic/preventative
  2. maintain skeletal strength, composition
  3. posture, respiratory/CV function
47
Q

Hemophilia = X-linked

________

A

recessive

48
Q

If a mother is a known carrier of hemophilia, there is a ___% chance that a baby boy will have hemophilia and a ___% chance that a baby girl will be a carrier

A

50

49
Q

Hemophilia type __ = bleeding disorder characterized by a fact VIII deficiency, resp for approx 80% of cases

A

A

50
Q

Hemophilia type __ = bleeding disorder characterized by factor IX deficiency, responsible for approx 20% of cases

A

B

51
Q

What is the defining abnormality of hemophilia?

A

impairment of secondary hemostasis

52
Q

Acronym for care after pt with hemophilia has a fall?

A

RRIICE

53
Q

What outcome measure should you use to track and evaluate change over time in knee, elbow and ankle joints of pt’s with hemophilia?

A

hemophilia joint health score

54
Q

Marfan syndrome = ________ dominant disorder

A

autosomal

55
Q

Marfan’s is a ______ tissue disorder caused by defects on chromosome ___

A

connective; 15

56
Q

Chromosome 15 encodes for ______, and lack of this = weakened CT

A

fibrillin

57
Q

Greatest implication of Marfan syndrome?

A

aortic aneurysm

58
Q

4 types of neural tube deficits?

A
  1. spina bifida occulta
  2. lipomeningocele
  3. meningocele
  4. myelomeningocele
59
Q

3 possible causes of neural tube deficits?

A
  1. genetic predisposition
  2. exposure to teratogens
  3. folic acid deficiency or disorder
60
Q

Spina bifida is also known as?

A

myelomeningocele

61
Q

_____ ________ = decreased size of the cerebellum, which could result in slipping into foramen magnum

A

chiari malformation

62
Q

Would a pt with spina bifida have increased or decreased reflexes?

A

decreased (or absent!)

63
Q

____ = non-progressive lesion of the brain that occurs before the age of 2 years

A

CP

64
Q

___ = a disorder of movement and posture

A

CP

65
Q

____ = most common cause of neurological related disability in children

A

CP

66
Q

CP: in children with normal birth weight, ___% of disability related to factors occurring BEFORE birth

A

80

67
Q

CP: in children with normal birth weight, ___% of disability related to factors occurring AFTER birth

A

20

68
Q

CP: in children with low birth weight, it is ______ when brain damage occurred

A

unclear

69
Q

Risk factors associated with CP: __% are prenatal, __% are perinatal, and __% are post-natal

A

80; 15; 5

70
Q

_______ _______ = most common ischemic brain injury in premature infants

A

periventricular leukomalacia

71
Q

periventricular leukomalacia = small holes in the brain surrounding _______ due to the death of small areas of the brain

A

ventricles

72
Q

During preterm period infants are at risk for ischemia in the _________ areas, results from the need for passive pressure circulation in infants

A

periventricular

73
Q

Auto-regulation of brain blood flow is absent until approx __ weeks

A

36

74
Q

Before __ weeks brain blood flow in the fetus is dependent on peripheral pressure maintained by mothers circualation

A

36

75
Q

Periventricular ____ matter is easily damaged by altered blood flow until it begins to myelinate at about __ weeks gestiation

A

white; 32

76
Q

PVL: lesions typically affect structures within ____-____ of brain, descending _______ tracts, and visual and acoustic _______

A

sub-cortex; corticospinal; radiations

77
Q

Typically PVL = ______, but if it occurs in term babies = ______

A

diplegia; severe quadriplegia

78
Q

For PVL Dx the lesions must be evident and persist for __-__ days

A

7-10

79
Q

___ % of pediatric strokes occur in the first week of life

A

90

80
Q

In perinatal stroke, ______ is often the first sign

A

seizure

81
Q

______ in 60% of perinatal strokes

A

hemiparesis

82
Q

5 possible risk factors for perinatal stroke?

A
  1. pre-eclampsia
  2. intrauterine growth restricition
  3. ruptured membranes
  4. bleeding
  5. diabetes
83
Q

4 possible causes of perinatal stroke?

A
  1. thrombi from placenta
  2. hyper coagulation from genetic prothrombolitic disorder
  3. congenital heart disease
  4. dehydration
84
Q

Perinatal stroke: ___-__ % have persistent neurological deficients or epilepsy

A

50-70

85
Q

_______ hemiplegia is most common neurological outcome post perinatal stroke

A

sensorimotor

86
Q

How many levels are there in the gross motor functional classification system? Are lower numbers higher function or lower?

A

5; higher

87
Q

Genetic disorders can fall under what 4 categories?

A
  1. chromosome abnormalities
  2. single-gene disorders
  3. multi-factorial disorders
  4. mitochondrial disordes
88
Q

What are 2 examples of chromosomal abnormalities?

A
  1. DS

2. prader-willi syndrome

89
Q

What are 2 examples of single-gene disorders?

A
  1. tay-sachs

2. muscular dystrophy

90
Q

What are 3 examples of multifactorial disorders?

A
  1. cancer
  2. spina bifida
  3. heart disease
91
Q

Marfans and OI are examples of autosomal ________ single-gene disorders.

A

dominant

92
Q

SMA and cystic fibrosis are examples of autosomal _______ single-gene disorders.

A

recessive

93
Q

Muscular dystrophy is an example of a ___-______ single-gene disorder

A

sex-linked

94
Q

Prader-Willi syndrome is a ______ _____ chromosomal abnormality.

A

partial deletion

PHTH 531 (5 decks)

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