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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
Complex or multifactoral inheritance is common in age-related hearing loss which affects about
50% of people > 75 years
24
what does idiopathic mean
we do not know the reason
25
prelingual
born with deafness before learning language
26
postlingual
deaf after learning language
27
nonsyndromic
one condition like just HL
28
syndromic
multiple systems HL and something else
29
what are environmental/nongenetic prelingual deafness causes? and percentage?
25% infections extreme prematurity ototoxicity
30
genetic causes of prelingual deafness and percentages
nonsyndromic (70%) syndromic (30%)
31
examples of nonsyndromic causes of hl
AR (75-85%) AD (15-24%) Xlinked (1-2% mitochondrial & others less than 1%
32
what is gene mapping
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
33
what is gene cloning
the production of exact copies (clones) of a particular gene or DNA sequence using genetic engineering techniques
34
How does gene cloning happen
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
35
syndromic disorders show abnormalities in many areas
syndromic loci
36
These are named according to their inheritance patterns
nonsyndromic loci
37
what does loci mean
location
38
DFN
deafness neurosensory SNHL
39
A
autosomal dominant
40
B
autosomal recessive
41
X
x linked recessive
42
Y
Y linked
43
M
modifier
44
AUNA
auditory neuropathy
45
OTSC
otosclerosis
46
what is a modifier gene
genes that affect phenotypic and/or molecular expression of other genes
47
what is the common source of phenotypic variation in humans
modifier genes
48
Modifier genes can affect
the phenotypic outcome of a given genotype by interacting in the same or in a parallel biological pathway as the disease gene
49
what can modifier genes do
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
what is pleitropy
environment condition mimics a genetic condition alopecia and thalidimide
51
what is inner ear homeostasis
balance bw different ions and fluids (peri and endo) in the inner ear
52
what happens if inner ear homeostasis is off
affects integrity of the inner ear and hae a problem with hearing
53
what is homeostasis
ability of an organism or cell to maintain internal equilibrium by adjusting its physiological processes
54
provide the definition for inner ear homeostasis
process by which chemical equilibrium of inner ear fluids and tissues is maintained
55
what is necessary for proper inner ear function
tight control on ion movement across cell membranes
56
what are the inner ear functions
hair cell functions regulation of extracellular endolymph and perilymph conduction of nerve impulses
57
what are the major ions involved in inner ear homeostasis
sodium (Na+) potassium (K+)
58
what ions also play a role in inner ear
chloride (Cl-) Calcium (Ca2+)
59
what controls ion homeostasis
numerous ion channels and transporters in the plasma membrane of cells, especially cells lining the scala media
60
does active H2O transport across cell membranes need to happen for inner ear?
yes
61
what causes 50% of all genetic HL
connexin
62
inner ear homeostasis in review
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
what is the cause of majority of non syndromic genetic HL
alteration of proteins that prevent movement of K+ from the organ of corti to the lateral wall and into the stria
64
what is involved in potassium uptake in the ear?
stria
65
HL can result from
increase or decrease activity of the strial process
66
Increased K+ transport in the endolymph or increased endolymph production
endolymphatic hydrops
67
Decreased K+ transport in the endolymph or decreased endolymph production
endolymphatic xerosis
68
what is an example of endolymphatic hydrops
Meniere's disease excess of endolymph
69
what is an example of endolymphatic xerosis
connexin
70
what is believed to be the cause of HL in humans
endolymphatic xerosis
71
Responsible by itself for 50 to 80% of all AR hearing loss
connexin 26 related HL
72
what is connexin 26
Gene mutation results in abnormal connexin gap junction proteins
73
what are the genes required for hearing
regulatory transmembrane transport structural integrity growth factor cellular localization
74
what is regulatory genes in hearing
Transcription factors: POUfamily, EYA family, PAX-3
75
what are transmembrane transport in hearing genes
Gap Junction genes (K+ recycling – Connexin deafness), Potassium channel genes, Iodide transporter gene
76
what is structural integrity gene in hearing
Collagen genes, Unconventional myosin (steriocilia), Tectorin (tectorial membrane), Prestin (OHC)
77
growth factor gene in hearing
norrin (norrie disease)
78
cellular localization in gene hearing
Treacle (Treacher Collins Syndrome)
79
what is prestin
protein found in OHC that causes motility of them
80
what is the classification of genetic deafness & hL
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
no associated physical or mental characteristics
connexin HL
82
what is another common HL classification used
congenital genetic group delayed onset congenital non genetic delayed onset non genetic
83
condition you’re born with but not genetic virus infection causing birth defects
congenital non genetic group
84
what is cytogenetics
branch of genetics that studies structure and function of the cell, especially chromosomes
85
Why is hearing usually not adressed in chromosome defects?
so severely compromised, both physically and mentally, that hearing status is not adequately addressed
86
what are the 3 autosomal trisomies and one sex trisomy that can survive to term
13, 18, 21, X
87
what increases the incidence of chromosome trisomies
advanced maternal age
88
why do we think that with advanced maternal age you run the risk of trisomies? (oogenesis)
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
what is trisomy 13 syndrome
Patau
90
which trisomie exhibits the most severe birth defects
13
91
what are the clinical findings of Patau syndrom
trisomie 13 severe intellectual disability brain, heart, difficulty breathing, heart issues eating, and vision problems
92
what are the audiologic findings of Patau syndrome
abnormal helices low set ears most severe to profound bilateral SNHL/deafness cochlea and vestibular abnormalities
93
why is hearing not evaluated in Patau
low survival rate significant and possible life threatening medical, neurological and cognitive impairments

AUDE 5310 Embryology & Genetic Conditions (18 decks)

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