mild to very profound

unilateral or bilateral

conductive, sensorineural, or mixed

chromosomal/ genetic (endogenous)

or nongenetic/ external factors (exogeneous) 

caused by inflammatory disorders, toxicity, noise, accident, or injury that inflicts damage on the auditory system

remember: ex-external gen-genes

originate within the genetics of an individual.

transmitted from parents typically

remember: En=IN Gen=Genetics

child whose hearing mechanisms is damaged in utero by maternal rubella is born with hearing loss.

this is congenital but not hereditary. 

1 parent passes the gene, not on the 'sex' gene

20% of cases of genetically caused (endogenous) deafness.

both parents pass the gene

parents are heterozygous, offspring homozygous or heterozygous. 

HOMO is more than a carrier (25% chance)

Accounts for as much as 80% of childhod deafness and most cases of genetic hearing loss

Sex linked. 

All daughters of trait carrying males are carriers

 Mothers with trait likely to pass on to son, making him demonstate characteristics of that gene.

type also called mother to son transmission. Similar to hemophilia gene.

2-3% of all cases of deafness. 

Non-syndromic

Syndromic

1/4000

about 3% of childhood hearing loss

waardenburg syndrome:

type of syndrome & charachteristics

autosomal dominance 

pigmentary animalies (white forelock, blue iries, partial albinism), cranofacial anomalies.

20-50% of suffers experience sensiorneural hearing loss

a characteristic of Waardenburg's

an abnormally increased distance between two organs or parts

a characteristic of Waardenburg's

a condition where the eyebrows grow together.

autosomal dominant

branchial abnormalities (ear pits and tags, cysts, fistulae) & renal abnormalities 

75 % exhibit some kind of hearing loss

20% demonstrating conductive

20% SNHL

&

50% present with mixed HL

autosomal dominant

craniofacial abnormalities (poorly developed malar bones, notching of eyelids, malformations of the external ear or canal, cleft palate)

a characteristic of Treacher Collins

abnormally small mandible 

3.5/100,000 of childhood hearing loss

or about 10%

Clinical characteristics & type of disorder:

Usher Syndrome

Autosomal Recessive

SNHL and retinitis pigmentosa

a characteristic of Usher's Syndrome

a group of disorders, often hereditary, that show progressive loss of retinal response, retinal atrophy, and clumping of the pigment with contraction of the field of vision.

Ushers Sydrome

Type 1

Ushers Syndrome

Type 2

Ushers Syndrome

Type 3

progressive bilateral SNHL, variable vestibular dysfunction.

found primarily in the Norwegian population 

Unknown but about 5% of congenital childhood hearing loss

type of disorder & clinical characteristics:

Pendred Syndrome

Autosomal Recessive

Thyroid goiter and SNHL

Jervell and Lange-Neilson Syndrome

prevalence

Type of disorder & clinical characteristics:

Autosomal Recessive

SNHL and syncopal episodes

a trait of Jervell and Lange-Neilson Syndrome

a syncope is a temporary suspension of consciousness caused by generalized cerebral ischemia.

Sex-linked

SNHL, congenital, or rapidly progressive blindness, pseudoglioma, opacification, and ocular degeneration.

characteristic of Norrie

an inflammatory condition of the eye which resembles glioma of the retina and is marked by a circumscribed suppurative inflammation of the vitreous body

characteristic of Norrie

the development of opacity (imperviousness to light rays), of the cornea or lens

Sex-linked

SNHL and nephritis

characteristic of Alport Syndrome

inflammation of the kidney/s

T or F:

With Autosomal dominant inheritance, the parent carrying the abnormal gene does not typically exhibit the trait.

skin tags

pre-auricular pits

pre-auricular pit with fistula

pre-auricular skin tags

Complex craniofacial abnormalities:

external abnormalities s/t get complex but include marks that aid in diagnosis

hundreds of syndromes like this...

Most include conductive hearing loss, but some have SNHL as well.

trauma,                otitis externa

fungus infections,       herpes infection

collapsed canal,      foreign bodies

wax impaction,       bony growth

many outer ear anomalies may also have middle ear implications.

Middle ear anomalies may include...

malformation of the ossicles or fusion of the ossicles.

Middle ear cavity may be absent or just have a slit like opening.

inflammation of the middle ear without reference to cause 

opaque or erythema tympanic membrance with no effusion (fluid)

rapid onset of signs and symptoms

(otalgia, otorrhea, fever, irritability)

TM is buldging, opaque, limited or no mobility to pneumatic otoscopy

an acute infection of the middle ear

inflammation of the middle ear with a collection of liquid in the middle ear space

relatively asymptomatic, lacks symptoms of AOM

TM is opaque, retracted or buldging, can be serious enough to erode bone (ossicles, which may cause meningitis)

serous- thin & watery

mucoid- thinck & viscous; mucus like

purulent- puss like

Hearing loss. 

Hearing sensitivity may range from normal to moderate HL @ 50 dB

Antibiotics, in more serious cases placement of PE tubes

(pressure equalization)

build up of spongifying bone within the osseous labyrinth

bilateral more common than unilateral

genetic predisposition

2.5 more common in women

(pregnancy can exacerbate the condition)

Occurs less frequently in Asians and African Americans

Onset usually b/w 20-40 years

Otosclerosis, 

Audiologic manifestations

progressive conductive HL

Carhart notch (max @ 2000 Hz)

most common approach is surgery to the stapes

surgical canidates usually exhibit an air-bone gap of at least 15 dB and have speech recognition scores of 60% or better

fixation may occur with other ossicles besides the stapes

The ossicles may also be disarticulated

from the fact that in the cochlear pathology there is damage to the sensory structures within the cochlea.

This leads to neural degeneration of afferent fibers, which are connected the the hair cells

Patients can HEAR speech but cannot understand it.

This is aside from profound HL of course.

With SNHL

defined as a more rapid groth loudness.

makes fitting with  a device more challenging 

Persons with SNHL may have some speech abnormalities depending on severity and age of onset.

May include:

high risk factors (which may require newborn to be placed in NICU)

viral or bacterial disease, either pre or postnatal

Meniere's Disease, ototoxic drugs, presbycusis

jaundiced appearance

bilirubin exceeds 6 to 8 mg/dL

liver malfunciton

Persistent pulminary hypertension in newborn 

(PPHN)

severe pulinary complications

hypoxemia (subnormal oxygenation of blood)

25x greater risk of HL than other NICU babies

'severe depression at birth'

interruption of oxygen to the brain

damage can be to inner ear or auditory portions of the brain

can be cause for cochlear and retrocochlear pathology

frequently transmitter to infant in utero

can be pre-natal, congenital, preinatal (from 28th week of gestation to 7 days after delivery), or post natal (later in life)

hyperbilirubinemia, persistent pulminary hypertension in newborn (PPHN), asphixia

affects membranous inner ear

low frequency SNHL 

may be unilateral or bilateral

progressive fluctuant HL, episodic vertigo, tinnitus, fullness

typically a low frequency SNHL that fluctuates with 'episodes'

family of antibiotics that usually includes the mycin drugs.

ototoxic drugs

Drugs that have a harmful effect on the organs/nerves concerned with hearing and balance

aminoglycoside antibiotics, which include the mycin drugs (ie streptomyicn)

hearing loss due to aging

more predominant in men

begins around 40-50 years

Sloping HF SNHL

pathologies central to cochlea

usually involves some type of tumor but may include other CNS diseases (ie MS)

audiogram varies in degree

when HL is present it is typicalls SNHL

common complaints of retrocochlear pathology:

(six)

tinnitus on affected side,      

dysequilibrium or gait problems,      

WR varies from normal to poor,        

acoustic reflexes usually absent or elevated when affected ear stimulated,

acoustic reflex decay- positive.

ABR abnormal

Deafness:

lost productivity cost

Deafness:

cost of education

deafness:

cost of entitlements

Social:

Personal cost...

Deafness:

Educational cost

Deafness:

Occupational

hard core unemployment:

30% unemployment rate

-importance of disorder

-prevalence of disorder

-acceptance criteria for diagnosis

-available disgnostic and treatment facilities

-cost-effectiveness 

Selected test should be the most sensitive or effective to detect condition set out to identify 

Good screening should be acceptable, reliable, valid, and cost-effective.

to examine a population of individuals and identify those with a disorder vs. those without a disorder.

Every population includes both groups

(disordered and non-disordered)

Disordered (includes true positives and false negatives)

Non-disordered (false positives and false negatives)

sensitivity: proportion of the population with the disease who have a positive test

Specificity: the proportion of the population without the disease who have a negative test finding.

Types of screening programs:

newborns

average amount of HL with otitis media with effusion...

Can range from 0-50 dB HL but...

speech frequency range (500-2000Hz) is 25 dB HL.

bone conduction averages 3dB HL 

producing an air-bone gap of approx 22 dB

COM

chronic otitis media

keratinizing (to become callous like) of the epithelium and the accumation of shedding cellular debris within the middle ear 

or other portions of the temporal bone.

can be associated w/ AOM or COM

white shale like plaques on the tympanic membrane, deposits onto the ossicles.

usually with COM, from residual material.

stiffens chain, causes conductive HL at low frequencies

aftereffect of chronic inflammation of middle ear cleft & mastoid

thinkening of membrane causes ossicle fixation, ossicular discontinuation, and hearing loss.

surgical procedure

an incision is made in an inferior quadrant in the tympanic membrane

this is used to remove or allow fluid to drain from middle ear space

disease must be persistant for at least 3 months prior

radical approach, is impairment of middle ear structure is involved

nonauditory special test, tests the vestibular system

may also performed by an audiologist

many of the prenatal diseases are categorized as a part of ________.

Which stands for _____________.

(s)TORCH

Syphilis, toxoplasmosis, rubella, cytomepalovirus, and herpes simplex.

severe to profound bilateral HL

configuration and degree vary

prevalence of HL: 35%

moderate to severe bilateral SNHL, may br progressive

prevalence of HL: 17%

profound bilateral SNHL

cookie bite audiogram is common

may be progressive

prevalence of HL: 20-30%

mild to profoud bilateral SNHL, may be progressive 

prevalence of HL: 17%

approx 20% die

moderate to severe unilateral or bilateral SNHL

prevalence of HL: 10%

most common consequence is HL

severe to profound SNHL 10%

another 16% experiencing transient conductive HL

a postnatal infection

one of the common cuases of unilateral SNHL

mild high-frequency impairment to profound

a postnatal infection

burning pain near ear, loss is usually a bilateral high frequency HL

postnatal

high frequency SNHL

(either unilaterally or asymmetric between the two ears)

within the group with an auditory disorder,

there are two sub groups:

1. those with the disorder who test positive

(true positives) A

2. those with the disorder who test negative

(false negatives) C

Within the group without an auditory disorder,

there are two subgroubs:

1. those without the disorder who test positive

(false positive) B

2. those without the disorder who test negative

(true negatives) D

Gold Standard Equation:

Sensitivity

sensitivity

100* [A/(A+C)]

100*

[true positives/

(true positives+ false negatives)]

Gold Standard Equation:

Specificity

100* [D/(B+D)]

100*

[true negative/

(false positives + true negatives)]

sensitivity & specificity

Gold Standard Equation:

Prevalence

100*

[(True positive+false negatives)/

(A+B+C+D)]

A+B+C+D = total population

advantages of ABR for newborn screenings

(there are three main ones) 

A. use of less intense stimuli, detects milderforms of HL

B. ability to detect both unilater & bilateral

C. physiologic measurement that depends on sensory response.

A. cost & sophistication of instrumentation

B. use of an acoustic click

C. presence of ABR doesn't mean they can hear