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AUDE 5310 Embryology & Genetic Conditions > Syndromic HL & Deafness > Flashcards

Syndromic HL & Deafness Flashcards

1
Q

What do birth defects put children at risk for

A

lifelong physical learning and social challenges

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1
Q

what is epidemiology

A

study of population health

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2
Q

why is it important to study epidemiology

A

to understand the incidence of a certain disorder

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3
Q

what is incidence

A

new cases over a period of time

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4
Q

what is prevalence

A

existing cases

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5
Q

give an example of incidence

A

new cases of HL diagnosed at birth or after

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6
Q

give an example of prevalence

A

what is the existing number of people with HL

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7
Q

Why has there been an increase in genetic conditions?

A

because we are doing a better job of diagnosing those conditions, people are more aware of genetics and genetic testing etc.

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8
Q

How can the risk of birth defects be reduced?

A

taking 400 micrograms of folic acid every day (prevents conditions like spina bifida)

stay up to date with immunizations

get regular medical checkups & know family history

avoid tobacco and second hand spoke

avoid drugs and alcohol

prevent insect bites

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9
Q

why would preventing insect bites reduce risk of birth defect?

A

mosquitos can carry west nile zika and other viruses that are harmful during pregnancy

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10
Q

what is the most common sensory deficit in humans

A

hearing los

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11
Q

prevalence of HL ____ with every age decade

A

increases

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12
Q

the prevalence of HL is ____ in women than men, black vs white, in individuals across all age decades

A

lower

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13
Q

Profound hearing loss occurs in ______ per _____ births

A

1 per 1000 births

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14
Q

Lesser degree of loss occurs in _____ to _____ per ____ births

A

1 to 2 per 1000 births

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15
Q

how many people worldwide have HL that affects their ability to communicate?

A

70 million (26%?)

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16
Q

How many genes are associated with normal hearing

A

1% of the human genome
approx. 300 genes

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17
Q

How many syndromes include HL

A

over 400

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18
Q
A
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18
Q

of all monogenic conditions hearing loss is of

A

unparalleled genetic heterogeneity

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19
Q

what is genetic heterogeneity

A

many genes causing the same phenotype - hearing loss

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20
Q

what is a monogenic condition

A

single gene mutations

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21
Q

what are the causes of HL

A

genetic and environmental factors acting independently and together

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22
Q

the causes of HL (genetic & environment) are called what

A

multifactorial inheritance (or complex inheritance)

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23
Q

Complex or multifactoral inheritance is common in age-related hearing loss which affects about

A

50% of people > 75 years

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24
Q

what does idiopathic mean

A

we do not know the reason

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25
Q

prelingual

A

born with deafness
before learning language

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26
Q

postlingual

A

deaf after learning language

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27
Q

nonsyndromic

A

one condition
like just HL

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28
Q

syndromic

A

multiple systems
HL and something else

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29
Q

what are environmental/nongenetic prelingual deafness causes? and percentage?

A

25%
infections
extreme prematurity
ototoxicity

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30
Q

genetic causes of prelingual deafness and percentages

A

nonsyndromic (70%)
syndromic (30%)

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31
Q

examples of nonsyndromic causes of hl

A

AR (75-85%)
AD (15-24%)
Xlinked (1-2%
mitochondrial & others less than 1%

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32
Q

what is gene mapping

A

Identification of the approximate or exact location of a gene on a chromosome
the street address of the gene on a chromosome
chrom #, long/short arm, region, band

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33
Q

what is gene cloning

A

the production of exact copies (clones) of a particular gene or DNA sequence using genetic engineering techniques

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34
Q

How does gene cloning happen

A

dna is extracted from an organism and contains all of its thousands of different genes
the genetic engineer has to then find the specific gene to encode the specific protein of interest

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35
Q

syndromic disorders show abnormalities in many areas

A

syndromic loci

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36
Q

These are named according to their inheritance patterns

A

nonsyndromic loci

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37
Q

what does loci mean

A

location

38
Q

DFN

A

deafness neurosensory
SNHL

39
Q

A

A

autosomal dominant

40
Q

B

A

autosomal recessive

41
Q

X

A

x linked recessive

42
Q

Y

A

Y linked

43
Q

M

A

modifier

44
Q

AUNA

A

auditory neuropathy

45
Q

OTSC

A

otosclerosis

46
Q

what is a modifier gene

A

genes that affect phenotypic and/or molecular expression of other genes

47
Q

what is the common source of phenotypic variation in humans

A

modifier genes

48
Q

Modifier genes can affect

A

the phenotypic outcome of a given genotype by interacting in the same or in a parallel biological pathway as the disease gene

49
Q

what can modifier genes do

A

modulate expressivity (severity), penetrance, age of onset, progression of a disease, or pleiotropy (two or more seemingly unrelated phenotypic traits) in individuals with Mendelian traits

50
Q

what is pleitropy

A

environment condition mimics a genetic condition

alopecia and thalidimide

51
Q

what is inner ear homeostasis

A

balance bw different ions and fluids (peri and endo) in the inner ear

52
Q

what happens if inner ear homeostasis is off

A

affects integrity of the inner ear and hae a problem with hearing

53
Q

what is homeostasis

A

ability of an organism or cell to maintain internal equilibrium by adjusting its physiological processes

54
Q

provide the definition for inner ear homeostasis

A

process by which chemical equilibrium of inner ear fluids and tissues is maintained

55
Q

what is necessary for proper inner ear function

A

tight control on ion movement across cell membranes

56
Q

what are the inner ear functions

A

hair cell functions
regulation of extracellular endolymph and perilymph
conduction of nerve impulses

57
Q

what are the major ions involved in inner ear homeostasis

A

sodium (Na+)
potassium (K+)

58
Q

what ions also play a role in inner ear

A

chloride (Cl-)
Calcium (Ca2+)

59
Q

what controls ion homeostasis

A

numerous ion channels and transporters in the plasma membrane of cells, especially cells lining the scala media

60
Q

does active H2O transport across cell membranes need to happen for inner ear?

A

yes

61
Q

what causes 50% of all genetic HL

A

connexin

62
Q

inner ear homeostasis in review

A

plasma membrane is the gatekeeper and there are genes that control those ions, without the working genes, the ions will not work and then there will be issues

63
Q

what is the cause of majority of non syndromic genetic HL

A

alteration of proteins that prevent movement of K+ from the organ of corti to the lateral wall and into the stria

64
Q

what is involved in potassium uptake in the ear?

A

stria

65
Q

HL can result from

A

increase or decrease activity of the strial process

66
Q

Increased K+ transport in the endolymph or increased endolymph production

A

endolymphatic hydrops

67
Q

Decreased K+ transport in the endolymph or decreased endolymph production

A

endolymphatic xerosis

68
Q

what is an example of endolymphatic hydrops

A

Meniere’s disease
excess of endolymph

69
Q

what is an example of endolymphatic xerosis

A

connexin

70
Q

what is believed to be the cause of HL in humans

A

endolymphatic xerosis

71
Q

Responsible by itself for 50 to 80% of all AR hearing loss

A

connexin 26 related HL

72
Q

what is connexin 26

A

Gene mutation results in abnormal connexin gap junction proteins

73
Q

what are the genes required for hearing

A

regulatory
transmembrane transport
structural integrity
growth factor
cellular localization

74
Q

what is regulatory genes in hearing

A

Transcription factors: POUfamily, EYA family, PAX-3

75
Q

what are transmembrane transport in hearing genes

A

Gap Junction genes (K+ recycling – Connexin deafness), Potassium channel genes, Iodide transporter gene

76
Q

what is structural integrity gene in hearing

A

Collagen genes, Unconventional myosin (steriocilia), Tectorin (tectorial membrane), Prestin (OHC)

77
Q

growth factor gene in hearing

A

norrin (norrie disease)

78
Q

cellular localization in gene hearing

A

Treacle (Treacher Collins Syndrome)

79
Q

what is prestin

A

protein found in OHC that causes motility of them

80
Q

what is the classification of genetic deafness & hL

A

chromosome disorders
external ear chances (treacher collins, BOR)
eye disease (ushers, norrie)
musculoskeletal disease (crouzon, stickler)
renal disease (alport)
cardiac system disease (jervell lange nielsen
neurologic (friedreich ataxia)
endocrine (pendred)
metabolic
integumentary (waardenburg)

81
Q

no associated physical or mental characteristics

A

connexin HL

82
Q

what is another common HL classification used

A

congenital genetic group
delayed onset
congenital non genetic
delayed onset non genetic

83
Q

condition you’re born with but not genetic
virus infection causing birth defects

A

congenital non genetic group

84
Q

what is cytogenetics

A

branch of genetics that studies structure and function of the cell, especially chromosomes

85
Q

Why is hearing usually not adressed in chromosome defects?

A

so severely compromised, both physically and mentally, that hearing status is not adequately addressed

86
Q

what are the 3 autosomal trisomies and one sex trisomy that can survive to term

A

13, 18, 21, X

87
Q

what increases the incidence of chromosome trisomies

A

advanced maternal age

88
Q

why do we think that with advanced maternal age you run the risk of trisomies? (oogenesis)

A

amount of time the egg spends in the diplotene stage
egg doesn’t complete meiosis stage until fertilization
by time is age is older, the egg has been in diplotene stage for this long

89
Q

what is trisomy 13 syndrome

A

Patau

90
Q

which trisomie exhibits the most severe birth defects

A

13

91
Q

what are the clinical findings of Patau syndrom

A

trisomie 13
severe intellectual disability
brain, heart, difficulty breathing, heart issues eating, and vision problems

92
Q

what are the audiologic findings of Patau syndrome

A

abnormal helices
low set ears
most severe to profound bilateral SNHL/deafness
cochlea and vestibular abnormalities

93
Q

why is hearing not evaluated in Patau

A

low survival rate
significant and possible life threatening medical, neurological and cognitive impairments

AUDE 5310 Embryology & Genetic Conditions (18 decks)

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