SLP 201 Disorders of the Ear, Auditory Nerve Pathways, Vestibular system

Syndromic

-signs and symptoms affecting multiple parts of the body

-HL + something else

-can be genetic

Nonsyndromic

-no other signs or symptoms

-HL only

-can be genetic

Autosomal Dominant Genes

if you have ONE copy of the gene, you will have the trait/disorder

*unless it is spontaneous mutation, one parent has trait/disorder

Autosomal Recessive Genes

you must have TWO copies of the gene to have the trait/disorder

*your parents may be carriers and not have the trait/disorder

X-Linked Recessive Genes

Gene is carried on the X chromosome

- females are generally carriers; males have trait/ disorder

Microtia "small ear"

-more common unilaterally

-more common in males

-more common in right ear

-congenital malformation

treatment: surgical reconstruction, mainly cosmetic

Stenosis

narrowing of canal

-congenital malformation

Atresia "no hole"

-unilaterally 6x more common than bilateral

-more common in males

-more common in right ear

-congenital malformation

Obstructions of Outer Ear

-amniotic fluid (newborns)

-cerumen (ear wax)

-insects

-foreign bodies

-osteoma or exostosis (surfer's ear)

treatment; epithelial migration, medical removal

Otitis Externa (Swimmer's Ear)

-bacterial

-fungal

-painful

caused by cold water in the ear

treatment- prevention, medical

Cellulitis

skin, but no swelling

-bacterial infection; red, hot inflamed skin

Perichondritus

swelling

Carcinoma

Cancer

Outer Ear Injuries

-burns

-frostbite

-chemical

-injuries

-radiation

Outer ear Disorders affect..

deflection, collection, direction, resonance enhancement

Collapsing Canals

babies and elderly

-pressure

-headphones vs. insert earphones

Middle Ear Malformations

-absence of middle ear

-absence of ossicles

-ossicular malformations

-bony malformations

treatment- surgical, may not be able to completely restore

Down Syndrome

Trisomy 21, small low set ears, structural ear anomalies related to skull formation, short neck, eustachian tube dysfunction

Branchio-oto-renal syndrome (BOR)

autosomal dominant, ossicular abnormality, cysts/clefts on neck, microtia, renal (kidney) abnormalities

Treacher Collins Syndrome

autosomal dominant, outer and/or middle ear malformations, malformations of cheeks, jaws, and/or face

no effects of intelligence

Goldenhar Syndrome

cause unknown; often unilateral, ears, nose, soft palate, lip, mandible,

Eustachain Tube Dysfunction

pressure "mismatch"

-pressure in OE>ME

treatment- eardrum retraction, nasal sprays, allergy testing

eustachian tube dysfunction to otitis media

eustachian tube does not open

middle ear cavity needs oxygen

tm becomes retracted ( pulled back into ME)

creates a vacuum in ME and intracellular fluid is pulled into ME cavity

Otitis Media

red eardrum; fluid from eustachian tube dysfunction or nasal congestion (vacuum created in ME)

treatment: Medical decongestants, antihistamines, antibiotic, surgery, pressure equalizer tube

Otitis Media with Effusion

clear fluid, purulent fluid (infected), glue ear

treatment: Medical decongestants, antihistamines, antibiotic, surgery, pressure equalizer tube

TM perforation

injury to middle ear caused by...

-pressure from effusion

-foreign body

-blow to the head

treatment: most heal quickly, surgical tympanoplasty

Tympanosclerosis

irregular white plaques on TM (think of scarring)

may come from trauma, tm perforation, me disease

Cholesteatoma

dead, exfoliate skin cells from external auditory meatus and surface of TM grow in ME; can erode ossicular chain

treatment- surgical removal, medical antibiotics

Otosclerosis

ME disease

condition in bony labyrinth of middle ear which causes the formation of bony growth over the footplate of stapes

2x women than men, bilateral, not symmetrical, mostly hereditary

Ossicular Chain Discontinuity

ME trauma ossicular discontinuity

trauma to TM

Head trauma

treatment: surgical repair

Middle ear disorders affect...

vibration, conduction, amplification

inner ear disorders affect...

sensory reception of sound waves, amplification of sound, neural encoding of sound

Michel Aplasia

-bony remnant of IE or absense (no cochlea or semicircular canals)

-anacusis (total HL)

Cochlear Aplasia

-absence of cochlea

-semicircular canals present, but may be deformed

-anacusis (total HL)

Common Cavity Deformity

-cochlea is a cavity, not a coiled structure

- 4th week gestation

-relatively common (26% of cochlear malfunctions)

-HL varies but can be progressive, but generally profound

Enlarged Vestibular Aqueduct Syndrome (EVAS)

-enlargement of the bony canal that connects IE to the cranial cavity

-filled with endolymphatic fluid

-HL may be present at birth, may be progressive, may be sudden, may fluctuate,

- symptom of pendred syndrome

Pendred Syndrome

-autosomal recessive

-EVAS

-possible cochlear malformation

-thyroid dysfunction; goiter

CHARGE Syndrome

-spontaneous mutation

-autosomal dominant

coloboma, choanal atresia, cranial nerve abnormality, ear anomalies

HL + vision loss

IE- malformed cochlea, semi circ c anals, small or absent auditory nerve

ME- malformed ossicles

-Can vary drastically for every different child

Usher Syndrome

autosomal recessive,

-congenital or early onset HL

-vestibular difficulties

-vision loss + HL

CHARGE and Usher syndrome are common causes of ...

HL and Vision loss

Waardenburg Syndrome

-pigmentation abnormalities

-wide set eyes

- generally autosomal dominant

-possible HL (25%)

Long QT Syndrome

cardiac muscle takes longer to recharge between beats; progressive HL

can lead to sudden death if not medicated

Connexin 26

*most common congenital HL

affect gap junction protein critical to chemical activity of hair cells; genetic screening of pregnant mothers

After a diagnosis of HL with an unknown cause every child should be referred for..

CT scan (ear malformations)

thryoid testing (pendred)

ophthalmological evaluation (Usher, CHARGE)

kidney function testing (BOR)

EKG (long QT)

Genetic testing (Connexin 26, otoscope test)

TORCH

in utero infection/disease

toxoplasmosis (cat feces)

other

rubella

cytomegalovirus

herpes

Maternal Rubella (German Measles)

infection during 1st/2nd trimester

may cause vision impairment, cataracts, heart disease, mental disability

- rate went down because of vaccines but it going up again because less people are getting vaccinated

CMV (maternal cytomegalovirus )

- leading cause of progressive or late onset HL in children

may cause vision impairment, mental disability, small head size, lack of coordination, seizures

- treatments: early detection, anti viral drugs

Neonates

low birth weight

prematurity

anoxia/hypoxia

jaundice

Miniere's Disease

-autoimmune disease

-typically unilateral

- low freq HL

-tinnitus

-long-lasting symptoms

- excess of endolymphatic fluid in cochlea

treatment: avoid caffeine, salt, alcohol

Presbycusis

progressive HL associated with aging

- often bilateral and symmetrical

- treatment: prevention

Ototoxic medication

drugs that are damaging to the ear/hearing

- aspirin, quinine, cisplatin, gentamicin, carboplatin, loop diuretics, ,Accutane

Noise Induced HL

-acoustic trauma; exposure brief but intense sound

-noise-induced; repeated/habitual exposure to injurious levels of sound

treatment- generally preventable, use common sense, wear ear protection

What do outer ear disorders affect?

collection, deflection, direction, resonance enhancement

What do middle ear disorders affect?

pressure mismatch, amplification, conduction, vibration

What do inner ear disorders affect?

sensory reception of sound waves, amplification of sound, neural encoding of sound

What do auditory nerve/pathway disorders affect?

neural encoding of sound, brain decoding of sound processing time, auditory functions

What do vestibular disorders affect?

body awareness, environmental awareness, locomotion, daily life activities, general feelings of health

auditory nerve and pathways disorders affect

neural encoding of sound

brain decoding of sound

processing time

auditory factors

localization, understanding

cochlear nerve deficiency

absence or underdeveloped cochlear nerve

mishomer

ANP disease, 8th nerve tumor

growth usually arises from one of vestibular nerves

HL usually unilateral and asymmetrical, progressive, tinnitus

Treatment- surgical intervention, hearing may be sacrificed

Auditory nerve pathway injury

Stroke or any other disorder affecting blood flow to brain

Anoxia / hypoxia - any trauma or disorder which deprives brain of oxygen

auditory nerve spectrum disorder (ANSD)

OHC function normally, IHS/Cochlea do not

HL can be any degree, speech scores are often lower

Risk factors- prematurity, hyperbilirubinemia (jaundice), cochlear nerve deficiency

auditory nerve and pathway central processing disorders

normal peripheral hearing sensitivity

difficulty processing auditory info into the CNS when it gets in the brain