Term
Transverse Temporal Bone Fracture:
-far less ___
-__-__% of temporal bone fractures
-Transverse fractures are associated with blows to the ___ ___ or ___. These fractures normally cross the ___ ___ and ___ ___.
-Symptoms include profound ___HL, ___, and severe ___ injury.
-facial paralysis occurs in ___% of these cases
-___ likely to survive a transverse fracture; more likely to involve the ___; secondary to ___ ___
-Otic capsule ___ (fracture line doesn't reach inner ear) and otic capsule ___ (inner ear is affected)
-Most temporal bone fractures are to young ___
-This one is more likely to be classified as otic capsule ___ because it more commonly affects in inner ear than longitudinal
-___-Bleeding in the middle ear
-fracture through the tegmen tympani results in ___ ___ |
|
Definition
| common; 20-30; frontal bone; occiput (back of the head); fallopian canal; otic capsule; SN; vertigo; head; 50; less; middle ear; auto accidents; sparing; violating; men; violating; Hemotympanum; CSF otorrhoea |
|
|
Term
Longitudinal Temporal Bone Fracture:
-Longitudinal fractures represent the majority (__-__%) of temporal bone fractures. ___ ___ is common and almost all have ___
-Hit on the ___ of the head.
-Incidence of facial palsy is __%
-direct blow to the ___ or ___ aspects of the head
-Can result in a ___ hearing loss, ___ ___, and loss of ___
-bilateral in __-__% of cases
-facial nerve is injured in __% of cases
-Commonly disrupt the ___or lacerate the skin of the ___ ___, but usually ___ the otic capsule |
|
Definition
| 70-90%; Battle sign; otorrhagia (bleeding from the ear); side; 20; temporal or parietal; conductive; bloody otorrhea; consciousness ; 8-29; 15; ossicles; ear canal; spare |
|
|
Term
| Condition where the bone over the semicircular canal is reduced or becomes absent |
|
Definition
| superior semicircular canal dehiscence (SSCD) |
|
|
Term
SSCD:
-__% of people have this; not everyone experiences the ___; can happen because of ___ ___ or you are ___ with it
-___ condition
-case history is important-___ worse than other times? ___?
-Not very much bone between that portion of the semicircular canal and the ___ of the brain so it doesn't take a big ___ for that bone to thin or disappear
-Some of the pressure is compensated at this ___ window instead of being compensated at the round and oval windows which causes patient to have ___, vertigo, ___ (eyes vibrate), and sensitivity to ___ sounds which can cause nausea and unsteadiness
- usually have ___ and ___HL; sensitive to sounds of their own body (___) |
|
Definition
| 2; symptoms; head trauma; born; bilateral; tinnitus; Vertigo; meninges; malformation; new; unsteadiness; opalopsia; loud; tinnitus; C; autophony |
|
|
Term
SSCD:
-Audiometry: ___HL or ___HL; Good ___ conduction thresholds; Not ___% indicator; ___ affect; temps and reflexes are ___;
-Diagnose with ___ and ___ |
|
Definition
| C; M; bone; 100; occlusion; normal; electrocochlearography; imaging |
|
|
Term
Symptoms of SSCD include:
___ ___--head tilts and oscillation of the eyes because sounds that aren't supposed to be loud are
-___
___ ___-bedside test where doctor puts pressure on the side of the head and the eyes will oscillate as a result
autophony
-___ tinnitus |
|
Definition
| tullio phenomena; Oscillopsia; Hennebert Sign; pulsatile |
|
|
Term
| What does Dehiscence mean? |
|
Definition
|
|
Term
| Patients with SSCD can experience ___ and ___ (the apparent motion of objects that are known to be stationary) evoked by loud noises and/or by maneuvers that change middle-ear or intracranial ___ (such as coughing, sneezing, or straining). Auditory manifestations of the syndrome include ___ (increased resonance of one’s own voice), hypersensitivity to ___-___ sounds, and an apparent ___ hearing loss revealed on audiometry. Some patients have exclusively vestibular symptoms and signs; some have both auditory and vestibular manifestations; and still other patients have exclusively auditory complaints. |
|
Definition
| vertigo; oscillopsia; pressure; autophony; bone-conducted; conductive |
|
|
Term
| A noise-induced threshold shift is presented as an increased threshold that naturally reverses to lower thresholds after at least ___ minutes avoidance of the loud sound source. After this reversible period, the hearing loss is deemed permanent and irreversible (the ___ ___ ___). Histopathological studies show various cells that are damaged by noise exposure. ___ hair cells seem to be more susceptible than ___ hair cells. ___ ___ cells were also lost in PTS. These losses occur in the cochlea in the expected ___ area, as well as the most ___ region, correlating to the highest frequency region. Cells within the ___ ___ have also been seen to be damaged, although not directly involved in sound transduction. Clinically, NIHL is usually ___ and ___, although some asymmetry up to ___ dB is not uncommon. Low-frequenccy thresholds are usually less than ___ dB, and high-frequency thresholds are rarely higher than ___ dB. May occur due to motor vehicles, power tools, firearms, during work or recreation (working at a factory or going hunting). |
|
Definition
| 15; permanent threshold shift; Outer; inner; Spiral ganglion; tonotopic; basal; stria vascularis; bilateral; symmetrical; 15; 40; 70 |
|
|
Term
NIHL:
-Typically find ___ working at factories or at airports, recreationally hunting, using earphones/headphones too loudly. The audiometric presentation shows significantly lowered thresholds in the ___ to ___ kHz region. Typically presents ___. An asymmetry in any hearing loss is a cause for concern, because our ears go through the ___ ___ together, noise wise. The notch at __ kHz could be explained by the resonances of the outer ear, which amplify sounds from 1 to 4 kHz. The acoustic reflex attenuates sounds at frequencies below __ kHz. NIHL affects the inner and outer hair cells within the cochlea. Not usually a loss greater than ___ dB in high freqs and greater than __ dB in low freqs. Theories of NIHL: mechanical damage to ___ – stereocilia are damaged, supporting cells are damaged (Reissner’s membrane ruptures, mixture of endo & peri). Metabolic stress – reduction of cochlear ___ ___, excitotoxicity. |
|
Definition
| men; 3- to 6; symmetrically; same experiences; 4; 2; 75; 40; cochlea; blood flow |
|
|
Term
NIHL:
-loss of OHC at basal turn - ___ frequencies.
-Degeneration of ___ ___, but slower process. High intensity and long duration of sounds: ___ ___ and ___ damage-___ ___ break. loss of contact b/w ___HC and ___ ___
-See more visible damage to ___HCs. IHC will have damage ___ |
|
Definition
| high; auditory nerve; Hair cell; Organ of Corti; tip links; O; tectorial membrane; O; overtime |
|
|
Term
NIHL:
-___HL
-bilateral or unilateral?
-symmetric or asymmetric?
-high or low frequency HL?
-Begins with ___ ___ ___
-Notching of audiogram (___, ___, or ___ Hz with recovery at ___ Hz)
-___, gradual tinnitus
-Permanent or not?
-Preventable? |
|
Definition
| SN; bilateral; symmetric; High; TTS; 3000, 4000, or 6000; 8000; Non-pulsatile; Permanent; yes |
|
|
Term
Audiogram of NIHL:
-Not usually a loss greater than ___ dB in high frequencies and greater than ___ dB in the low frequencies
-Average of low frequencies is ___ than average at high frequencies
-___ increasing hearing loss during first 10-15 years
-Rate of hearing loss decelerates as hearing threshold ___ |
|
Definition
| 75; 40; better; Rapidly; increases |
|
|
Term
| What are the 4 otoxic groups? |
|
Definition
| amino glycoside antibiotics, salicylates, platinum-based chemotherapeutic drugs, and loop diuretics |
|
|
Term
| What is an example of Salicylate |
|
Definition
|
|
Term
| what are Aminoglycoside antibiotics and what is an example of one? |
|
Definition
| Class of antibiotics that are used to treat septic infections or compromised immune systems (big gun antibiotics). associated with damage to stria vascularis and outer hair cells; Neomycin-used for ear drops |
|
|
Term
| What is an example of Antineoplastics (chemotherapeutic drugs)? |
|
Definition
|
|
Term
| What do loop diuretics do and what is an example? |
|
Definition
| reduces fluid absorption in the kidney; given to someone with acute kidney failure, heart failure; Bendroflumethazide |
|
|
Term
| ___ used to treat variety of solid tumors but is significantly ototoxic. cochlear and proximal tubule epithelial cells do not proliferate rapidly (and mammalian hair cells not at all). In these cells, cisplatin is thought to permeabilize mitochondria to release proapoptotic factors or generate toxic levels of ROS, each of which can initiate ___ ___ mechanisms. Cisplatin-induced hair cell toxicity occurs preferentially in the ___ region of the cochlea, which is sensitive to ___ frequencies. Cisplatin also induces degeneration of the ___ ___, decreasing the number of marginal and intermediate cells, as well as ___ ___ cells, along with deterioration in ___ performance |
|
Definition
| Cisplatinum; cell death; basal; high; stria vascularis; spiral ganglion; auditory |
|
|
Term
| Autoimmune inner ear disease (AIED) can be broken down into primary and secondary types. Primary entails pathology restricted to the ___, whereas secondary entails ___ ___ autoimmune diseases that also involve the ear, such as Cogan syndrome, Wegener granulomatosis, systemic lupus erythematous (SLE), and systemic vasulidities |
|
Definition
|
|
Term
| Hallmark of AIED is ___ ___NHL progressing over weeks to months. This description is complicated by the fact that patients may present with ___ HL and their course may fluctuate. Vestibular symptoms can be present in up to __% of patients. These may include ataxia, ___, positional or episodic ___, and motion intolerance. ___ ___ and ___ may also be present. There may be systemic manifestations of autoimmune disease on examination of the ___ and ___ ear such as effusion (Wegener), ___ ___, ___ (inflammation of cartilage), chronic sinusitis or coup (Wegener), and ___ loss (Cogan or Susac syndrome); however, most patients have normal physical examinations |
|
Definition
| bilateral S; unilateral; 79; imbalance; vertigo; Aural fullness; tinnitus; middle; external; skin lesions; chondritis; visual |
|
|
Term
| What are some differential diagnosis of autoimmune disease of the ear? |
|
Definition
Sudden sensorineural hearing loss (SSNHL); Menieres disease,
Otosyphilis, Retrocochlear pathology including acoustic neuroma, Meningitis, multiple sclerosis, and malignancy involving the dura |
|
|
Term
Sudden sensorineural hearing loss (SSNHL):
HL in AIED progresses over ___ to ___, whereas SSNHL develops suddenly and is not progressive. Additionally, SSNHL is almost uniformly ___, whereas AIED initially may present with unilateral loss but eventually ___ ___ are involved |
|
Definition
| weeks to months; unilateral; both ears |
|
|
Term
Cogan Syndrome:
-Often presents in the ___ decade of life with ___ hearing loss as the presenting symptom in ___% of patients. Ocular and vestibulocochlear symptoms may present ___ or ___. Both will generally present within several months, and ___% of patients showed signs of both within first 2 years
-Cochleovestibular symptoms: ___ ___, ___, and ___
-HL is ___, ___, ___, and progressive, and most often down sloping
-vestibular symptoms: generally ___ onset and lasts for days
-Ocular symptoms: ___, pain, scleral ___, and photophobia; visually acuity is ___ secondary to corneal clouding |
|
Definition
| 4th; sudden; 50; together; separately; 85; HL; vertigo; tinnitus; sudden; bilateral; fluctuating; sudden; bilateral; redness; decreased |
|
|
Term
Wegener Granulomatosis:
-Immune disorder characterized by ___ ___ of the upper and lower respiratory tracts, and glomerulonephritis.
-ME and IE may be involved. The ME can be either involved directly, with ___ of the middle ear or mastoid, or indirectly, through inflammation of the ___ ___ or ___
-usually __HL, secondary to effusion of the ME
-SNHL presents in up ton ___ and is progressive |
|
Definition
| necrotizing granulomas; inflammation; ET; nasopharynx; C; 1/3 |
|
|
Term
-___ ___ ___ is characterized by excessive production of antinuclear antibodies that can form immune complexes in the blood
-SNHL in about ___-___% of patients
-usually ___
-___, symmetric, ___ frequency
-vestibular symptoms are ___ |
|
Definition
| Systemic lupus erythematous (SLE); 15-66; asymptomatic; bilateral; high; variable |
|
|
Term
Susac Syndrome:
-___, ___ (A broad term for any brain disease that alters brain function or structure), and ___
-__ ___ is affected-results from cochlear end-arteriole occlusion
-HL ___ and is ___
-HL is worse in ___-___ frequencies
-___ symptoms possible |
|
Definition
| retinopathy; encephalopathy; deafness; IE; fluctuates; asymmetric; low-mid; vestibular |
|
|
Term
Diabetes Mellitus:
-NEUROPATHIC: one effect of DM is a process by which glucose is reduced to ___
-Sorbitol is implicated in ___ (impedes metabolism, causes tissue to deteriorate) |
|
Definition
|
|
Term
Diabetes Mllitus (DM):
-ANGIOPATHIC: disordered blood flow in the body (associated with atherosclerosis) leads to atrophy of ___ ___ in basal and middle turns of cochlea
1. May also result in myelin loss in ___ nerve
2. May also result in neurodegeneration of ___ ___ secondary to VIII change
3. Angiopathic (disease of blood vessels) changes may also be noted in the ___ ___, ___ ___, and ___ membrane |
|
Definition
| spiral ganglion; VIII; IE; endolymphatic sac; stria vascularis; basilar |
|
|
Term
DM:
CREATININE: poorly controlled ___ ___ leads to microvascular disease which is associated with ___ hearing loss (related to angiopathic changes noted above) |
|
Definition
| blood sugar; sensorineural |
|
|
Term
| clinical syndrome (collection of symptoms) that is marked by evidence that the central auditory pathway is dysfunction but the cochlea is functioning normal |
|
Definition
| Auditory Neuropathy Spectrum Disorder |
|
|
Term
ANSD:
-Symptoms of ___ ___ that are impossible to attribute to a specific disease process
-Pathology of the ___ ___ and/or those neurons are not firing ___
-Hearing loss of ___ severity, often fluctuating
typically fluctuating |
|
Definition
| auditory dysfunction; auditory nerve; synchronous; varying |
|
|
Term
ANSD:
-Poor speech in ___ (worse than audiogram would predict)
-___ OAE (75%)
-___ cochlear microphonic
-___ acoustic reflexes (90%)
-___ ABR (especially later waves) |
|
Definition
| noise; Present; Present; Absent; Abnormal/absent |
|
|
Term
ANSD:
-If you have this disease you have it for your ___ ___; probably have this from ___ just many aren't diagnosed until later; may ___ school hearing screenings
-Incidence and prevalence ___ considerably
-__% of children, another study showed under __%-due to how you define the disease |
|
Definition
| whole life; birth; pass; vary; 2; 1 |
|
|
Term
ANSD:
-reduction of neurons in the ___ nerve
-___ ___ malformation
-___ between spiral ganglion and the 8th nerve; lower brainstem nucleus abnormalities
-case history is very important-___ and ___ at birth-did they stay in ICU and were they treated for anything? |
|
Definition
| 8th; spiral ganglion; disconnect; genetics; abnormalities |
|
|
Term
ANSD:
diagnoses is based on ___ history, ___ history, ___ tests-not genetic tests or blood tests; if the underlying cause is known it needs to be ___ Ex: mumps |
|
Definition
| birth; medical; audiologic; treated |
|
|
Term
ANSD:
-Can't turn up the volume if its the ___ nerve that is the problem because it's not a problem with the ears; ___ ___ are not the solution; Possible solution in ___ ___ by bypassing the 8th nerve-mixed results on this
-Associated with some ___ syndromes
-nonsyndromic genetic abnormalities-specific genetic ___ |
|
Definition
| 8th; HA; CI; genetic; mutations |
|
|
Term
ANSD:
-Some perinatal conditions related to this disease-hyperbilerumanemia-low ___ ___, hypoxia (lack of oxygen), ___
-some infectious processes-___ and ___ (also associated with cochlear HL).
-Secondary to trauma-___ ___ ___ |
|
Definition
| birth weight; prematurity; mumps; measles; shaking baby syndrome |
|
|
Term
| ___ ___ involves an immune-mediated process in which an abnormal response of the body’s immune system is directed against the central nervous system (CNS), which is made up of the brain, spinal cord and optic nerves. The exact antigen — or target that the immune cells are sensitized to attack — remains unknown, which is why it is considered by many experts to be "immune-mediated" rather than "autoimmune." |
|
Definition
|
|
Term
MS:
-Within the CNS, the immune system attacks ___ — the fatty substance that surrounds and insulates the nerve fibers — as well as the ___ ___ themselves.
-The damaged myelin forms scar tissue (___), which gives the disease its name.
-When any part of the myelin sheath or nerve fiber is damaged or destroyed, nerve impulses traveling to and from the brain and spinal cord are ___ or ___, producing a wide variety of symptoms.
-The disease is thought to be triggered in a ___ susceptible individual by a combination of one or more ___ factors. |
|
Definition
| myelin; nerve fibers; sclerosis; distorted; interrupted; genetically; environmental |
|
|
Term
MS:
-Hearing deficits caused by MS are thought to be due to ___ and/or ___ around the eighth cranial nerve (the auditory nerve) as it enters the brainstem, although ___ (abnormal areas that develop on nerves whose myelin has been destroyed) at other sites along the auditory pathways could also contribute to hearing problems.
-Could have general ___ weakness, ___ vision, ___, and ___ speech, ___. |
|
Definition
| inflammation; scarring; plaques; extremity; blurred; ataxia; slurred; tinnitus |
|
|
Term
MS:
-Usually ___ hearing acuity is found. ___ function is not usually affected. In cases with hearing loss, 85% show ___ bilateral ___ frequency loss. The hearing loss is sometimes ___ and occasionally it is ___. One clinician reported that up to ___% of MS patients with normal audiograms report difficulty hearing in background noise
-Immittance testing is usually ___ for tympanometry and ipsilateral reflexes. Contralateral reflex may be ___. |
|
Definition
| normal; Cochlear; sensorineural; high; unilateral; sudden; 40; normal; absent |
|
|
Term
MS:
-Speech discrimination may be ___ than indicated by pure tone thresholds. ___ ___ ___ ___ can be used to assess central auditory pathways and possible retrocochlear lesions.
-___ testing is very useful in diagnosing MS. Results frequently show abnormalities as absent waveforms except I, delays in absolute latencies for waveforms, delays in interpeak latencies for I, III, and V, interaural latency of V and I-V, and poor wave form morphology and amplitudes of waves III and V. Reduction in click rate often does not result in improvement. ABR can be normal for persons with MS if the ___ is not involved. A small plaque in the auditory brainstem pathway can alter the ABR.
-Balance problems are frequently due to demyelination in the ___ ___, brainstem, and ___ spinal tracts. Vestibular symptoms may be aggravated by ___ or ___ movement. |
|
Definition
| poorer; Central auditory perceptual testing (CAPT); ABR; brainstem; cerebellopotine angle; vestibular; head; eye |
|
|
Term
| ___ is toxicity in the nervous system. It occurs when exposure to natural or artificial toxic substances, which are called ___, alters the normal activity of the nervous system in such a way as to cause damage to nervous tissue. |
|
Definition
| Neurotoxicity; neurotoxins |
|
|
Term
| Heavy metals such as ___ and ___ are commonly considered neurotoxic agents that can affect brain function and exist in the ___ environment. These agents are ___ or ___ into the body and make their way to the brain |
|
Definition
| lead; mercury; external; ingested; absorbed |
|
|
Term
| Another agent, bilirubin, is an ___ chemical agent naturally found in the body; however, high levels of this agent in the body result in a condition known as ___, which can cause damage especially to the auditory system |
|
Definition
| internal; hyperbilirubinemia |
|
|
Term
| The audiologist plays a vital role in monitoring a patient’s hearing loss during chemotherapy. In some cases a HL may not be ___; however, the audiologist working in conjunction with the medical professionals can help ___ the HL. One way this can be done is through ___ medications and through careful ___ of hearing sensitivity. HL caused by chemotherapy often affects the ___ frequencies first, thus ___ ___ audiometry is sensitive to changes due to chemotherapy. ___ are sensitive to outer hair cell function, thus they are beneficial diagnostically too. |
|
Definition
| avoidable; limit; alternating; monitoring; high; high frequency; OAEs |
|
|
Term
Ototoxicity:
-The HL associated with salicylates is ___ while the HL associated with Aminoglycoside antibiotics is ___ in nature.
-Loop diaretics lead to a HL due to decreasing the ___ of ototoxic drugs
-Aminoglycoside antibiotics lead to a HL due to affecting the ___ ___.
-Aminoglycoside antibiotics is ___ in nature.
-Aminoglycoside antibiotics damage the ___ ___ while Platinum-based chemotherapeutic drugs cause changes in the ___ ___. |
|
Definition
| reversible; permanent; filtration; stria vascularis; permanent; stria vascularis; cochlear transduction |
|
|
Term
Aminoglycoside antibiotics
-Example?
-HL is ___
-Affects the ___ ___ and ___ hair cells |
|
Definition
| Gentamyicin; permanent; stria vascularis; IHCs |
|
|
Term
Salicylates:
-Example?
-Damage is ___ related, generally have to take a ___ amount
-Can be ___ resolved with decreased dosage
-Flat ___ frequency HL
-Degree of HL?
-Tinnitus? |
|
Definition
| Aspirin; dose; large; partially; high; mild; yes |
|
|
Term
Platinum-based chemotherapeutic drugs:
-More preservation of cochlear ___ ___ function
-Causes changes in ___ ___ |
|
Definition
| hair cell; cochlear transduction |
|
|
Term
Loop diuretics:
-Example?
-Decreases ___ of ototoxic drugs
-Effects ___ exchange |
|
Definition
|
|
Term
| Ototoxicity is usually ___ and ___ because it affects the ears through the blood stream, so it would affect both ear the ___ way |
|
Definition
| bilateral; symmetric; same |
|
|
Term
| Noise exposure HL is more likely to be ___. This is because ears are exposed to ___ sound levels bilaterally. Even for sounds originating on one side of the head the difference in sound level between the ears is about __ decibels. With the head shadow sound differences between ears at low frequencies is ___ (< 5 dB). In terms of reverberation and head movement, the exposure is usually ___, especially in ___ settings. The combination of reverberation and head movement rarely differs by more than ___ dB. Exceptions to the asymmetry of NIHL include ___ and workers who use a ___ in one ear. And cases where a ___HL may attenuate noise exposure in one ear. |
|
Definition
| bilateral; similar; 2; negligible; symmetric; occupational; 2; shooters; headphone; headphone |
|
|
Term
Presbycusis:
-Usually ___
-results from a progressive loss of ___ ___ cells and other changes in the auditory system
-___ ___, metabolic effects, ___ exposures, and genetics all likely contribute.
-HL due to aging is more likely to be bilateral in nature. This is because the typical aging process will affect ___ ears equally |
|
Definition
| bilateral; sensory hair; Noise exposure; toxic; both |
|
|
Term
| HL due to vestibular schwannoma if often ___ because it is caused by a ___ ___; mass lesions are more prone to being ___ opposed to ___ |
|
Definition
| unilateral; mass lesion; unilateral; bilateral. |
|
|
Term
| What is the term for age-related hearing loss? |
|
Definition
|
|
Term
Etymology of the word Presbycusis:
-Presby- ___, ___ ___, or ___
-Cusis - (Akousis) ___ |
|
Definition
| Old, old man, elder; Hearing |
|
|
Term
| Outer ear changes related to age include the pinna losing some ___ and ___ in size. Excessive hair growth on the ___ and the ___, especially in men is also common with the aging process. However, these changes generally ___ affect hearing. With aging you can see ___ canals because of ___ of supporting cartilage and decreased skin ___; this can create a false ABG when testing. ___ skin, from decreased secretion of glands, is also common in aging individuals. Finally, increased likelihood of ___ build up due to drying and thinning of tissue within EAC and ___ and ___ cerumen is common as well. |
|
Definition
| flexibility; increasing; tragus; helix; do not; collapsed; atrophy; elasticity; Dry; cerumen; thicker; drier |
|
|
Term
| In the middle ear, there are some age-related changes with TM, ossicular chain, joints, muscles, and ligaments. The TM is more ___, less elastic, ___, and less ___. And there may be calcification of ___ ___ and ___ ___. There may be a decline in ___ function of the ET – interferes with ___. Aging can also affect ___ ___ and ___ testing results. |
|
Definition
| stiff; thinner; vascularized; ET; ossicular chain; muscle; swallowing; acoustic reflex; immittance |
|
|
Term
The inner ear also sees several changes associated with aging. These changes are classified according to being sensory, neural, metabolic, or mechanical changes:
-Sensory changes in the IE include atrophy of the ___ ___ ___. This affects the hair cells and the supporting cells at the ___ end of the cochlea. There may also be degeneration of the auditory ___.
-Neural changes in the IE included widespread, severe loss of ___ cells and nerve fibers throughout the cochlea (first order/afferent neurons). There may also be a loss of ___ neurons out of proportion to Organ of Corti degeneration.
-Metabolic changes seen in the IE included Atrophy of ___ ___. This can lead to a deficiency in bioelectric and biochemical properties of ___. A ___% loss of strial tissue will result in a HL.
-Mechanical changes seen in the IE lack a definitive histologic correlate in the Organ of Corti, auditory neuron, or strial tissue. There may be a disturbance in the ___ ___ of cochlear partition due to thickening/stiffening of basilar membrane, atrophy of spiral ligament. |
|
Definition
| Organ of Corti; basal; neurons; ganglion; auditory; stria; endolymph; 30; motion mechanics |
|
|
Term
Age-related HL:
When choosing diagnostic tests there are some age related considerations to keep in mind when testing older patients. First, their response time may be ___; while this does not relate to a specific test(s) it should be kept in mind during all testing procedures that require a patient ___ (pure tones, SRTs, word rec, etc). Another consideration is ___ ___. This should be kept in mind for the duration of the appointment. To help compensate for this the clinician can incorporate ___ ___, utilize ___ session/testing times (45-60 minutes), and schedule sessions in the ___. |
|
Definition
| slow; response; failing attention; shot breaks; shorter; morning |
|
|
Term
Age-related HL:
When conveying test instructions it is important to keep consider any ___ deficits the client may have. To help compensate for this during testing ___ and ___ instructions, practice responses, and utilize ___ trials if necessary. |
|
Definition
| memory; repeat; simplify; conditioning |
|
|
Term
Age-related HL:
-When selecting test modalities it is important to keep ___ deficits in mind. This can be compensated for by coming up with ____ strategies for responding. (Saying “yes” for a response if moving (i.e. raising a hand is hard), pressing a button to intidcate they heard a sound, etc)
-When Interpreting test results for patients it is important to keep it ___ and ____. You want to present the information in a way that they can ___ it. If the patient has a caregiver (or is unable to understand the testing results) you want to be sure to tell the ___ the results of the tests too. |
|
Definition
| movement; alternative; short; simple; understand; caregiver |
|
|
Term
Age-related HL:
-When making follow-up recommendations and referrals for elderly patients it is important to keep a few things in mind. First you want you consider ___ ___ or ___. If they are unable to drive themselves will they have somebody who is willing to take them to ___ appointments. You may want to recommend ___ and ___ groups; patients who receive these services see an incenses in quality of life and a decrease in ___. If appropriate recommend ___ to decrease cognitive load and to help them better communicate with those around them. This will help them fight off the typical age related ___ death.
-When selecting hearing aid options it is important to keep ___ (skill in performing tasks, especially with the hands.), other ___ impairments, cognition, and ___ support in mind. If they have dexterity deficits you don’t want a ___ HA... Keep in mind if they will have anybody to help them with their ___. |
|
Definition
| caregiver support; independence; referral; rehabilitation; support; depression; HAs/amplification; neuronal; dexterity; sensory; caregiver; small; technology |
|
|
Term
-ANSD is most often defined by a constellation of audiologic test findings, including ___ degree of HL (most often reduced), poor ___ recognition ability in relation to the degree of HL, and normal ___ (at least in the vast majority of cases), as well as totally ___ ABRs (although in some cases the later waves may be present with abnormlaites in the earlier waves.) Auditory neuropathy spectrum disorder is a clinical syndrome that describes a collection of symptoms that is marked by diagnostic results showing that the ___ is functioning normally but the ___ ___ is functioning abnormally. It refers to a case in which a patient has normal ___ function and abnormal ___ pathology in the absence of an explanation.
-The “general” diagnostic criteria for ANDS is a normally functioning cochlea with abnormal Retrocochlear function in the absence of an explanation. There is a lot of variability in the literature due to there being varied diagnostic criteria. Based on personal interpretation ANSD can be interpreted to include a wide range of patients or it can be interpreted to include a small range of patients. Thus incidence and prevalence is ___ to define. ANSD is often diagnosed in ___. |
|
Definition
| variable; speech; OAEs; absent; cochlea; auditory pathway; cochlear; Retrocochlear; hard; newborns |
|
|
Term
ANSD:
-This population would be defined as very ___ for several reasons. First, case presentations ___ from individual to individual. Second, the ___ factors vary from case to case. Third, the diagnostic criteria ___ and ___.
-The risk factors associated with ANSD are varied and often there is not one single etiology. Additionally, the etiology is most cases is ___.
-A lot of risk factors have to do with problems at ___; can be associated with damage to each of these parts of the pathway, such as ___, hypoxia, ___ ___ ___, premature, ___ infection during the pregnancy, if the mother experience high ____ during pregnancy, and febrile seizures |
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Definition
| heterogeneous; vary; risk; varies; changes; unknown/idiopathic; birth; anoxia; LBW; viral; fever |
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Term
-ANSD is also associated with some hereditary conditions such as Charrot – marie – Tooth Disease and Reiedrichs. ANSD is also associated with some post natal syndromes like ___ ___ ___.
-Look at test that assess the ___ (normal), the ___ (abnormal), and the ___ nerve (abnormal). Often there will be a ___NHL of varying severity. The loss is often ___ and typically ___. They will have poor ___ in noise testing results, the results will be ___ than audiogram would predict. Some individuals will also have severe ___ of speech and extreme difficulty hearing in noise, despite having fairly ___ hearing sensitivity. OAEs and the cochlear microphonic will be ___, which is a sign of normal cochlea function and OHC health. Acoustic reflexes will be ___, which is indicative of a ___ pathology. The ABR will be ___ or ___, especially in the later waves, which is also indicative of a Retrocochlear pathology. Depending on the cause there may be associated ___ symptoms or ___ problems in addition to the auditory symptoms. |
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Definition
| Shaken baby syndrome; cochlea; CANS; 8th; S; fluctuating; bilateral; speech; worse; distortion; good; present; absent; Retrocochlear; absent; abnormal; vestibular; motor |
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Term
MS:
-Several methods are used to make the diagnosis of MS. These tests include an ___ to visualize the plaques, a ___ puncture, and ___ ___.
-Audiological Testing for diagnosis: There is a generous amount of literature pertaining to MS and ___ testing. Dichotic testing involves the ___ ___ which is highly myelinated. Thus dichotic testing utilizing ___ stimuli is one of the best procedures for detecting auditory dysfunction related to MS. Perhaps the most utilized audiologic test in the MS population is the ___. When the brainstem auditory tracks are involved, the ABR is ___. In the general MS population the ABR’s sensitivity hovers around __%. The ABR is considered to be the most ___ measure for auditory dysfunction in MS patients. The ___ ___ ___ is also sensitive to auditory dysfunction in patients with MS. |
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Definition
| MRI; lumbar; evoked potentials; dichotic; corpus colossus; speech; ABR; abnormal; 60; sensitive; Middle Latency Resposne (MLR) |
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Term
MS:
-In MS, the symptoms are related to the ___ of the disease. That is, wherever the myelin is ___, symptoms related to that area of the brain can emerge. All ___ ___ can be affected. This includes the ___ ___. Often in cases the HL is overlooked because the HL will tend to be more ___ than the other motor and sensory symptoms. The HL is often ___ because when the patient has “Flairs” (bad days) where the HL will be worse; however, this is paired with good days where HL will be better. But, there will be an overall general ___ in functioning. HL may be one of the ___ signs; be aware of this especially if they have slight other symptoms.
-The management of MS is largely___. This can include injections on interferon-beta or glitaramer acetate, which have been shown to be effective in reducing ____.
-Audiological treatment can utilize ___ ___. However, you want to be careful when setting/programming the HAs because the patients HL can fluctuate. |
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Definition
| locus; attacked; neural systems; auditory system; subtle; fluctuating; decline; first; pharmaceutical; exacerbations; hearing aids |
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Term
-NIHL causes several anatomical changes in both the short term (during a ___ threshold shift) and in the long term (during a ___ threshold shift). If this damage is ___ it is a TTS, but if it is ___ ___ it is a PT.
-First, there are changes in the hair cell membranes in NIHL. The hair cell membranes become ____, splayed, ___, fractured, and/or ___. Next, over time the inner hair cells and the supporting hair cells will undergo changes as well.
-There will be retrograde degeneration of the ___ nerve fibers and changes in the ___ system.
-Extreme noise exposure can lead to possible displacement of the ___ ___ ___. The organ of Corti is displaced with sounds greater than ___ decibels.
-Acoustical overstimulation also results in broken ___ ___. This reduces the ___ of the hair cells and leads to disruptions of ___ transduction. Additionally, there is destruction of proteins in actin, which makes up the core of ___ or contractile proteins.
-NIHL also causes ___ cells to buckle. This leads to a loss of contact between ___HC stereocilia and ___ membrane. |
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Definition
| temporary; permanent; reversible; not reversible; floppy; disordered; fused; cochlear; vascular; Organ of Corti; 140; tip links; stiffness; mechanoelectric; stereocilia; support; O; tectorial |
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Term
vascular loop syndrome:
AKA vascular ___ syndrome or ___ syndrome, can happen anywhere in the body but for us, we are concerned with changes in the ___ ___ ___ (space constrained by the cerebellum and pons). Lesions here can compress ___ nerve, ___ nerve, and ___ structures. The ___ ___ ___ ___ is a common location for vascular loop syndrome. Here, an abnormal loop is formed which may be caused by compression from ___, may compress ___ nerve and ___ nerve both due to their close proximity to one another. The AICA may loop around or may simply ___ or ___ the nerves. It can cause ___HL and ___, distorted ___ perception, ___ symptoms, ___, hemifacial spasm, and facial pain. Surgical intervention is ___ and ___ due to location and should only be used in very severe cases (however, when surgically treated, all symptoms are likely to resolve). Another treatment option includes ___ drugs (baclofen, etc.). Hearing aids may or may not be beneficial, and the primary treatment is ___ rather than audiological. |
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Definition
| compression; microvascular; cerebello pontine angle; VII, VIII; vascular; anterior inferior cerebellar artery (AICA); swelling; VII and VIII; compress; touch; SN; tinnitus; speech; vestibular; hyperacusis; difficult; risky; anticonvulsant; medical |
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Term
| Vascular loop syndrome occurs when the AICA forms an abnormal ___ shape, this abnormal looping shape my compress on the 8th CN and the 7th CN. This pathology can occur anywhere in the body but the above location is most commonly associated with ___ deficits. It is important to note that not ___ vascular loops come in contact with the auditory system. However, studies show that the most common site for vascular loop syndrome is the ___/___ nerve (90-93% of cases), followed by the ___ nerve (9%-6%). |
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Definition
| looping; auditory; all; facial/vestibulocochlear; trigeminal |
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Term
| Essentially mass lesions are ___ ___ lesion within the brain/the CANS. The most common mass lesion of the CANS is ___ ___. |
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Definition
| space occupying; vestibular schwanomma |
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Term
| The symptoms related to mass lesions depend on the ___, location, ___, and consistency of the tumor. General symptoms can include ___, nausea, ___, seizures (in the later stages), ___, and altered mental capacity. Tumors that specifically affect the CANS can lead to complaints of not being able to ___ in noise,___, auditory ___, difficulty understanding speech, decreased appreciation of ___, and sound distortions. |
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Definition
| size; type; headaches; vomiting; dizziness; hear; tinnitus; hallucinations; music |
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Term
Mass Lesion:
With the current advancements of ___, audiology is not the best way to diagnose a mass lesion. Most mass lesions are diagnosed via ___ or ___ scan. However, the audiologist may be the first to see a patient with an undiagnosed mass lesion if hearing is the individual’s major complaint. In this case, assessment of the patient’s ___ is a key diagnostic feature that can be used in conjunction with medical imaging tests. Then patient should be ___ to their PCP for appropriate referrals for imaging. |
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Definition
| radiology; MRI; CT; CANS; referred |
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Term
Mass Lesion:
A more common role of the audiologist is working with patients who have been diagnosed with a tumor to determine if the ___ system is compromised post diagnosis. The audiologist may also do ___ and ___ surgical assessments to determine the auditory status of the patient post surgery. This is important for the overall ___ of the patient. Following chemotherapy and radiation treatment for tumors that are located in or close to the auditory area of the brain the patient should be evaluated for potential compromise of the ___. Appropriate management should follow if ___. |
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Definition
| auditory; pre and post; welfare CANS; warranted |
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Term
| A vascular lesion is an interruption of ___ supply. Oxygen and glucose are ____ and waste matter is not effectively removed. The two classes are ___ (stroke, blood flow is diminished) and ___ (aneurysm, blood vessel is ruptured). They may cause ___, confusion, ____, weakness, ___HL, tinnitus, ___ understanding in noise, poor comprehension, ___ hallucinations. If auditory symptoms are present, the lesion likely affected the ___-___ area, ___ ___ artery, or ___ ___ ___ ___. The role of the audiologist is to ___ and ___ hearing and balance after the patient is medically stable. |
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Definition
| blood; undersupplied; ischemic; hemorrhagic; headache; aphasia; SN; poor; auditory; vertebral-basilar; middle cerebral; AICA; assess and monitor |
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Term
| Ischemic disorders occur when blood flow to an area of brain tissue is ___. Prolonged diminished blood flow can result in tissue infaction (___ ___.) Ischemic strokes typically occur when cerebral arteries are ___ as the result of narrowing or the lodging of blood in a vessel. |
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Definition
| diminished; ischemic stroke; occluded |
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Term
| ___ ___ results from damage to blood vessels, often due to high blood pressure. They result in a loss of ___ ___ to specific areas as well as a mass effect in the brain. Hemorrhagic vascular lesions also occur as a result of aneurysms, which is a ___ of the vessel due to weakness in the vessel wall. |
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Definition
| Intracerebral hemorrhage; blood flow; ballooning |
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Term
| They symptoms of a vascular lesion are dependent upon the ___ of the problem, the number/types of ___ involved, the ___ of involvement, and patient factors such as ___, general health, and ___ level. General symptoms may include ___, confusion, ___, parathesias, hemiplelgia, ___ deficits, aphasia, ___, and dizziness. (“Typical” stroke symptoms) Auditory signs that the CANS may be involved include ___, auditory hallucinations, loss of ___ ___, confusing following ___ and understanding speech, ___ difficulties, and changes in music appreciation. In extreme cases central ___ can occurs. |
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Definition
| locus; vessels; degree; age; activity; headache; drowsiness; sensory; vomiting; tinnitus; hearing sensitivity; directions; localization; deafness |
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Term
| Audiologic Testing in cases of Mass or Vascular Lesion to CANS can include ___ tests, ___ processing tests, ___ ___ speech tests, ___ ___ tests, and electrophysiology. |
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Definition
| dichotic; temporal; monoaural redundancy; binaural intergration |
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Term
Vascular Lesions:
Dichotic digits/dichotic words/ staggered spondaic words involve presenting ____ signals to both ears. This tests your ability to ___, ___, and ___ both signals. Individuals who have had a TIA will do poorly on these tests; they may be fine if they can focus on ___ ear at a time. Those with low brainstem lesions will have difficulty ___; however, those with higher lesions may only be able to perform on the ___ side |
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Definition
| different; listen; focus; process; one; bilaterally; non-affected |
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Term
Vascular Lesions:
Temporal processing tests involve multiple tests. One is ___ and ____ pattern sequencing, which test temporal sequencing. In these tests the patient is asked to repeat a ___; in some cases they may just be able to hum the pattern, this is indicative of ___ hemisphere function. If they cannot hum it then a right hemisphere ___ would be implied. Next is gap detection, this has them respond to brief periods of ___. This is a test of temporal ___. . Lastly, thresholds for long and short tones, to test temporal ___ and ___ in terms of signal time. |
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Definition
| frequency; duration; pattern; right; compromise; silence; resolution; integration; processing |
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Term
Vascular Lesions:
-Monaural low redundancy speech tests utilize filtered, compressed, interrupted, filtered ___. This reduces the richness of the signal and gives the patient ___ -__ to draw from. Individuals will generally show ____ deficits.
-Binaural interaction tests involve ___ level difference, interaural timing, lateralization tests. The patient is asked to use information from 2 ears to create a total ___ ___ and respond to that total composite signal. These tests are very sensitive to ___ brainstem lesion. |
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Definition
| speech; less information; contralateal; masking; composite signal; low |
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Term
CANS Lesions-Dichotic Tests:
Individuals who have had a TIA will do ___ on these tests; they may be fine if they can focus on ___ ear at a time. Those with low brainstem lesions will have difficulty ___; however, those with higher lesions may only be able to perform on the ___ side |
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Definition
| poorly; one; bilaterally; non-affected |
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Term
CANS Lesions-Monaural Low Redundancy Speech Tests:
Individuals will generally show ___ deficits. |
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Definition
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Term
| A pattern of inheritance in which an affected individual has one copy of a mutant gene and one normal gene on a pair of autosomal chromosomes |
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Definition
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Term
| Atosomal Dominant: ___-zygotic XY. no ___ mutation responsible for majority of cases, usually post-lingual and ____, may be high/low/mid/flat frequencies. DFNA. |
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Definition
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Term
| means two copies of an abnormal gene must be present in order for the disease or trait to develop |
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Definition
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Term
| Autosomal Recessive: ___-zygotic XX. usually __-lingual and ___-___ bilateral. DFNB. |
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Definition
| homo; pre; severe-profound |
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Term
| X-Linked: ___ chromosome. ___ or ___-lingual, ___HL or ___, mild to profound, ___, ___ frequencies. DFNX (locus name) |
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Definition
| X;Pre or post; SN; mixed; progressive; all |
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Term
| In the Autosomal dominate inheritance pattern, the inheritance of ___ mutated allele is sufficient to cause a disorder or syndrome. With every pregnancy there is a ___% chance that the parent with a specific disorder or condition will pass the mutated allele to his/her offspring. If the mutated allele is passed on then the child will have the ___ disorder or syndrome as the parent. |
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Definition
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Term
| In the Autosomal recessive pattern, ___ Autosomal gene alleles must have the mutation in order for the individual to have the disorder or syndrome. The individual receives ___ allele from each parent. If both parents have an Autosomal recessive disorder, then the offspring ___ inherit the disorder; because the offspring will inherit the recessive mutated allele from each parent. However, if both parents are ___, meaning they have one mutated allele and one nonmutated allele, the offspring may or may not inherit the disorder depending on the specific allele received from each parent. There is a ___% chance of passing the mutated allele on to the child, however the child has a ___% chance of having the disorder or syndrome. |
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Definition
| both; one; will; heterozygots; 50; 25 |
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Term
| X linked inheritance pattern refers to the mode of transmission of genes on the ___ chromosome, the ___ chromosome. This is a unique inheritance pattern, as females have __ X chromosomes whereas males have __ X chromosome and __ Y chromosome. Most X chromosome alleles do not have corresponding alleles on the Y chromosome. As a result if a male inherits a mutated X allele he will have the associated disorder or syndrome because he only inherited the ___ allele. However, this is not the case with females because they inherit two alleles, thus they may only inherit ___ of the mutated alleles |
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Definition
| X; sex; 2; 1; 1; mutated; one |
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Term
-___: associated with a syndrome, a collection of signs/symptoms.
-___: not associated with a syndrome. can be autosomal recessive (most common), autosomal dominant, or X-linked (least common). “Single-gene disorders”
-Congenital hearing loss is most likely to be ____ (70%). |
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Definition
| Syndromic; Non-Syndromic; non-syndromic |
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Term
| Syndromic hearing loss occurs in the presence of other ___, which form a syndrome. This refers to a hearing loss that is not a hearing loss in ___; it occurs in the presence of other symptoms. Syndromic hearing loss involves not only the auditory system but also other systems, thus making it a ___ disorder. |
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Definition
| symptoms; isolation; multifaceted |
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Term
| A non-syndromic hearing loss is not associated with any other ___ ___. It is a hearing loss that occurs in ___. Non syndromic hearing loss involves primarily the ___ system; however, in some situations more than the auditory system can be involved, but not nearly to the ___ as it is observed in syndromic hearing loss. |
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Definition
| medical abnormality; isolation; auditory; degree |
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Term
| Nonsyndromc hearing losses are more ___ than syndromic hearing losses. Approximately __% of genetic HL is nonsyndromc, while __% of genetic HL is syndromic. |
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Definition
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Term
-Mitochondrial is always ___ inherited. Mitochondria has it’s own ___ that differs from the DNA of the individual. Regarding hearing loss, it’s not well understood. May be syndromic or non-syndromic (usually ___).
-Three non-syndromic mutations: ___ (common, aminoglycoside induced), ___ (common), and ___ (causes severe-profound). Hearing loss highly ___
-Although most of the DNA in humans is located in the nucleus, a small amount is located in the energy-producing organelles called ___. Humans obtain their mitochondrial DNA from their mothers because ___ ___ contain mitochondrial DNA and sperm cells do not. Hence, any ___ are passed from the mother to the child. |
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Definition
| maternally; DNA; syndromic; MT-RNR1; MT-TS1; MT-CO1; variable; mitochondria; egg cells; mtDNA |
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Term
-A “mitochondrial hereditary hearing impairment” is caused by a ___ in the mitochondrial DNA. Most with mitochondrial DNA mutations cause a ___ HL.
-This form of HL is ___ understood than HL associated with other genetic abnormalities. It can result in syndromic and nonsyndromc hearing loss.
-The HL associated with mitochondrial DNA mutations is very ___ in terms of case presentation. It is typically ___ in nature. The loss can range from ___ to ___. Additionally, the loss is generally ___HL in nature. There are also forms of mitochondrial DNA mutations that increase an individual’s susceptibility to ___. There are only __ mitochondrial DNA mutations cause a HL. |
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Definition
| mutation; syndromic; less; variable; bilateral; moderate to profound; SN; Aminoglycosides; 3 |
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Term
| Waardenburg: most common ___ ___ cause of HL. ___ in 20K births. Pigment abnormalities, ___ forelock. Heterochromia iridis (different ___ ___). 4 types. Type 1, ___% have HL. Type 2, ___% have HL. Types 3, 4, possible total ___. __HL if cleft palate present. |
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Definition
autosomal dominant; 1-10; white; eye colors; 25; 50; deafness; C
[image] |
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Term
| Branchio-Oto-Renal: ___ in ___ births. ___ most common autosomal dominant disease associated with HL. Maldevelopment of the ___ ___. Malformation of ___, dentition, ___, eyes, ___. __HL, __HL, ___ possible. ___ ___ (incomplete cochlea, turn and a half, associated with LVAS). |
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Definition
1 in 40K; 2nd; branchial arches; jaw; ears; kidneys; C; SN; mixed; Mondini malformation
[image] |
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Term
| Stickler: ___ in ___ births. Autosomal ___. ___ of cases involve HL. ___ face, small nose, may ___ with age. ___ abnormalities, dwarfism, ___ stature, spinal curvature, ___, hypermobility, ___ ___. |
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Definition
1 in 9K; dominant; Minority; Flattened; normalize; Bone; small; osteoarthritis; cleft palate
[image] |
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Term
| Apert: ___ in ___ births. Premature fusion of ___ ___, syndactyly (fusion of ___ or ___), wide set ___, underdeveloped ___, crowded ___, sunken ___. ___ problems and possible ___ deficits. __HL, related to ___ -__ fixation, ___ and ___ loss. |
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Definition
1 in 65K; skull bones; fingers or toes; eyes; jaw; dentition; face; Vision; cognitive; C; ossicular chain; flat; bilateral
[image] |
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Term
| Neurofibromatosis Type 2: ___ all over body, may become ___. Vestibular ___, ___, may be treatable. Risk for a variety of tumors. |
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Definition
tumors; malignant; schwannoma; bilateral;
[image] |
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Term
| CHARGE: autosomal ___. ___ (hole in eye), heart defect, ___, choanae (narrowed ___ passages), retarded growth and development, genetic abnormality,___ abnormality. ___ syndrome. Underproduction of ___ hormone, delayed or incomplete ___, abnormal passage between ___ and ___, ___ function may/not be affected. ___ ear malformation are common-possibly ___HL, ___HL, or ___ depending on what structures are malformed |
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Definition
dominant; coloboma; atresia; nasal; ear; Craniofacial; growth; puberty; esophagus; trachea; cognitive; Inner; SN; mixed
[image] |
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Term
| Usher: Most common autosomal ___. ___% of all profound SNHL bilateral related to Usher. Retinitis pigmentosa, diagnosed with ___. one of the most common disorders related to ___ ___ in general. progressive ___HL and progressive ___ loss |
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Definition
| recessive; 3-5; retinography; hearing loss; SN; vision |
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Term
| Pendred: Autosomal recessive. ___ in ___ births. Develops in ___/___. __ shaped audiogram, bilateral ___-___. Second most common ___; congenital severe to profound HL related to ___ ___ (not fully developed cochlea); thyroid ___; treated by ___ for thyroid problems |
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Definition
1 in 7.5K; puberty/adulthood; U; severe-profound; recessive; mandini malformation; goiter; endocrinologist
[image] |
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Term
| Jervell and Lange Nielsen: Autosomal recessive. Congenital ___ deafness, prolonged QT interval (___ heart rhythm, may cause sudden syncope or death). Abnormality of __ channels in cochlea and throughout body. |
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Definition
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Term
| Biotinidase Deficiency: Autosomal recessive. ___ in ___ births, deficiency in ___. If caught early, use biotin ___. Otherwise, ___, ___ (state of low muscle tone), developmental delay, ___ abnormalities, ___HL (low biotin, low myelin). If identified late, damage probably ___. |
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Definition
1 in 60K; biotin; supplements; seizures; hypotonia; vision; SN; irreversible
[image] |
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Term
| Refsum Disease: Autosomal recessive. Disorder of ___ (especially phytanic acid) ___ that results in a ___ buildup in bloodstream. Changes in ___, smell, severe progressive ___HL, bone abnormalities, ___ ___ skin, heart rhythms, ___. Treatable wth ___ modification and ___ transfusion, monitored for life |
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Definition
| lipid metabolism; toxic; vision; SN; dry scaly; neuropathy; dietary; blood |
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Term
| Treacher-Collins: may be ___ or ___, from multiple gene abnormalities. ___ in ___ births. Incorrect ___ development, intelligence almost always ___, __HL almost always present, cochlea ___. |
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Definition
dominant or recessive; 1 in 10-50K; facial; unaffected; C; unaffected
[image] |
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Term
Down Syndrome: Also called ___ ___. ___ in ___ (risk increases with maternal age) births. CHL in __% of cases, associated with predisposition to ___ ___. See slide for physical features.
-___ shaped ears; lack of ___ tone; some hearing loss -usually ___-malformations of the ___ and ___ ears-do well with ___ ___ |
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Definition
| trisomy 21; 1 in 700; 50; otitis mediaRectangularly; muscle; conductive; outer; middle; HA |
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Term
| Alport: ___-___. ___ in ___ births. Progressive ___HL, ___ failure, abnormal ___ levels, may have ___ abnormalities. |
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Definition
| X-linked; 1 in 50K; SN; kidney; collagen; visual |
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Term
| Norrie: ___-___. Abnormal ___ development (blindness), ___ cases have progressive SNHL, some cases may have ___ delays, ___ and ___ abnormalities. |
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Definition
| X-linked; retinal; 1/3; developmental; circulation; respiration |
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