HL w/ Neurologic Disorders

Question 1

How does ANSD manifest

Answer 1

issues with speech recoginition in noise
acoustic reflexes are abnormal
WRS would show abnormal

Question 2

what is meant by ANSD being a spectrum disorder

Answer 2

meaning that the clinical presentation will not be the same
see variability in its presentation

Question 3

are OHC present and in tact in ANSD

Answer 3

YES

Question 4

where does cochlear microphonic come from

Answer 4

OHC

Question 5

what is affected in ANSD

Answer 5

neuralsynchrony

Question 6

where is ANSD

Answer 6

sensory hair cells are in tact
issue with the synapses of the IHCs with CN VIII N

Question 7

why are OAEs normal in ANSD

Answer 7

because they come from the OHCs and these are still in tact

Question 8

what kind of tests will show as abs in ansd

Answer 8

any test related to the 8th nerve
ABRs, electrochochleaography, acoustic reflexes

Question 9

why do we see issues with wrs in ANSD

Answer 9

if not firing in synchronous, tonotopic organization the information will not go to the brain in the correct way it should and brain gets garbled info and cannot understand the speech and when noise is introduced the test is now harder

Question 10

how was ANSD discovered

Answer 10

becasue of OAEs

Question 11

could a deaf baby with no ANSD pass the new born hearing screening with OAEs?

Answer 11

no because their outer and inner hair cells are affected

Question 12

could they pass a screening with ANSD

Answer 12

YES

Question 13

ANSD can be

Answer 13

genetic or environmental

Question 14

what is aANSD mode of inheritance

Answer 14

it has different modes

Question 15

what environmental based disorders can act like ANSD

Answer 15

mumps and measles

Question 16

can you determine ANSD based on the audiogram

Answer 16

NOOO because it is based on the hair cells and ANSD is not a dysfunction of the hiar cells

Question 17

how can you detect ansd?

Answer 17

ABR
Reflexes
OAEs

Question 18

what is the most successful treatment for ANSD

Answer 18

CIs

Question 19

what is the only condition where an audiogram is not used for determining a condition?

Answer 19

ANSD

Question 20

why do CIs work for ANSD?

Answer 20

because you can bypass the synapse with the CI and if the CN VIII and sensory cells are working this is why it workds

Question 21

what is myelin

Answer 21

important for conduction of nerve impulses
an insulating layer, or sheath that forms around nerves, including those in the brain and spinal cord. It is made up of protein and fatty substances

Question 22

what is the transmission of charcot-marie-tooth disease

Answer 22

AD, AR, or x linked recessive

Question 23

what is PMP22

Answer 23

gene that encodes for peripheral myelin protein-22

Question 24

what is charcot-marie-tooth disease

Answer 24

one of the most common inherited neurological disorders
peripheral neuropathy
Chronic degeneration of peripheral nerves causing muscular atrophy

Question 25

what is peripheral neuropathy

Answer 25

any condition that affects the nerves outside of the brain and spinal cord

Question 26

progressive neurodegenerative disease characterized by polyneuropathy

Answer 26

charcot-marie-tooth disease

Question 27

what is polyneuropathy

Answer 27

multiple peripheral nerves are damaged

Question 28

what are the clinical features of charcot marie tooth disease

Answer 28

absent limb reflexes
motor and sensory nerves affected
muscle wasting up to the knees and elbows
progressive HL

Question 29

what is the inheritance of friedreich’s ataxia

Answer 29

Autosomal recessive neurodegenerative disorder

Question 30

what is ataxia

Answer 30

the inability to control voluntary movements

Question 31

what is friedrich’s ataxia

Answer 31

rare inherited disease that causes progressive damage to your nervous system and movement problems

Question 32

what is an intron

Answer 32

a segment of a DNA or RNA molecule which does not code for proteins and interrupts the sequence of genes.

Question 33

what is an extron

Answer 33

part of the gene that is expressed

Question 34

what happens with more repeats in the GAA trinucleotide in friedreichs ataxia

Answer 34

the more repeats you have the worse the condition is
larger the number of GAA copies the earlier the onset of the disease and faster the decline of the PT

Question 35

what are the characteristics of friedrich’s

Answer 35

incoordination of limb movements
dysarthria
nystagmis

Question 36

what are the triad clinical manifestations sufficient for a friedreichs diagnosis

Answer 36

hypoactive knee and ankle reflex
progressive cerebellar dysfunction
preadolescent onset

Question 36

what is hereditary sensory and autonomic neuropathy type I (HSAN1)

Answer 36

autosomal dom transmission
rare
neurodegenerative disorder
adult onset progressive SNHL to deafness
early onset dementia
sensory neuropathy in toes and ulceration

Question 36

what is the peripheral form of neurofibromatosis

Answer 36

NF-1

Question 36

what is the central form of neurofibromatosis

Answer 36

NF-2

Question 37

what is the inheritance for NF

Answer 37

AD
high penetrance and variable expressivity

Question 38

characteristics of neurofibromatosis I

Answer 38

cafe au lait spots
pigment in the eyes
tumors on or under the skin

Question 39

characteristics of neurofibromatosis II

Answer 39

tumors
progressive visual loss
acoustic neuromas
devastating communication disorder

Question 40

how do you manage NF-2

Answer 40

auditory brainstem implant

Question 41

how does an abi work

Answer 41

bypasses the damaged auditory nerve and connects directly to the brainstem to detect sound
It is placed on or near the surface of the cochlear nucleus

Question 42

does abi provide speech understanding

Answer 42

no more sound awareness with limited speech understanding

Question 43

what are the 3 main parts of an ABI

Answer 43

microphone and sound processor behind the ear
decoding chip under the skin
electrodes connected directly to the BS