DISEASES OF THE INNER EAR 1.2 (AB) Flashcards
What is the first step in evaluating diseases of the inner ear?
History
What are the key aspects to assess in the history of a patient with inner ear disease?
Laterality, chronicity, associated symptoms (tinnitus, pain, dizziness, vomiting, itchiness), trauma, compressive forces, type of noise exposure
What are the practical physical examination methods for assessing hearing problems?
Otoscopy and hearing tests (tuning fork tests, pure tone audiometry, OAE, ABR, ASSR)
What imaging studies are used for inner ear disease?
High-resolution CT of the temporal bone and MRI
What are the requirements for normal hearing?
Integrity of middle ear mechanism and cochlear duct, functional Organ of Corti, inner ear homeostasis, adequate CNS pathway function
What are the three types of hearing loss?
Sensorineural, conductive, mixed
What is the most common type of hearing loss?
Sensorineural hearing loss
What structures are affected in sensorineural hearing loss?
Cochlea, auditory nerve, or central nervous system
What specialists are involved in managing sensorineural hearing loss?
Otolaryngologist, audiologist, radiologist, speech-language pathologist
What are the classifications of hearing loss based on causality?
Genetic, environmental, multifactorial
When does congenital hearing loss occur?
At birth
When does acquired hearing loss occur?
Anytime after birth
What is prelingual hearing loss?
Hearing loss occurring before speech development
What is postlingual hearing loss?
Hearing loss occurring after speech development
What is syndromic hearing loss?
Hearing loss with additional symptoms
What is nonsyndromic hearing loss?
Hearing loss as the only symptom
What type of hearing loss results from outer or middle ear dysfunction?
Conductive hearing loss
What type of hearing loss results from inner ear or auditory nerve dysfunction?
Sensorineural or mixed hearing loss
What are the classifications of hearing loss based on frequency loss?
Low frequency (<500 Hz), mid frequency (501-2000 Hz), high frequency (>2000 Hz)
What is unilateral hearing loss?
Hearing loss in one ear
What is bilateral hearing loss?
Hearing loss in both ears
What is stable hearing loss?
Hearing loss severity remains unchanged
What is progressive hearing loss?
Hearing loss severity increases over time
What are the key pathophysiologic mechanisms of sensorineural hearing loss?
Structural abnormalities, metabolic dysfunction, vascular issues, basilar membrane overcrowding, noise trauma
What are the most common causes of sensorineural hearing loss?
Congenital (syndromic and nonsyndromic), presbycusis, noise-induced hearing loss, head injury, Ménière’s disease, ototoxicity, systemic conditions, vestibular schwannoma
What percentage of the world’s population has hearing loss?
Over 5% (430 million people)
What percentage of children are affected by hearing loss?
34 million children
What percentage of people over 60 have disabling hearing loss?
Over 25%
What are prenatal causes of hearing loss?
Genetic factors (hereditary and non-hereditary), intrauterine infections
What are perinatal causes of hearing loss?
Birth asphyxia, hyperbilirubinemia, low birth weight, other perinatal morbidities
What are common childhood causes of hearing loss?
Chronic ear infections (CSOM), chronic nonsuppurative otitis media, meningitis, other infections
What are common adult causes of hearing loss?
Chronic diseases, smoking, otosclerosis, age-related sensorineural degeneration, sudden sensorineural hearing loss
What are risk factors for hearing loss across all ages?
Impacted cerumen, ear/head trauma, loud noise, ototoxic medications, work-related ototoxic chemicals, nutritional deficiencies, viral infections, progressive genetic hearing loss
What are the impacts of unaddressed hearing loss?
Communication difficulties, cognitive decline, social isolation, economic impact, education and employment challenges
What are the severity classifications of hearing loss based on decibels?
Mild (20-40 dB), Moderate (41-60 dB), Severe (61-80 dB), Profound (>80 dB)
Which part of the cochlea receives high-frequency sounds?
The base
Which part of the cochlea receives low-frequency sounds?
The apex
Which part of the cochlea is damaged first in hearing loss?
The base, leading to initial high-frequency hearing loss
What are the two main causes of congenital hearing loss?
Genetic and environmental factors
What are the possible sites of damage in sensorineural hearing loss?
Hair cells (sensory loss), fluid system/homeostasis (metabolic problem), auditory nerve (neural loss), or all three (sensorineural hearing loss)
What is the primary characteristic of non-syndromic hearing impairment?
Hearing loss with no other associated problems.
What percentage of non-syndromic hearing impairment cases are autosomal recessive?
80-90%
What gene is commonly associated with autosomal recessive non-syndromic hearing impairment?
Connexin 26 (GJB2)
What percentage of non-syndromic hearing impairment cases are autosomal dominant?
0.25
What gene is commonly associated with autosomal dominant non-syndromic hearing impairment?
ACTG1
What percentage of non-syndromic hearing impairment cases are X-linked or mitochondrial?
1-2%
What gene is associated with X-linked non-syndromic hearing impairment?
PRPS1
What distinguishes syndromic hearing impairment from non-syndromic hearing impairment?
Syndromic hearing impairment includes deafness along with other clinical features.
How many syndromes are associated with sensorineural hearing loss (SNHL)?
400
What is the inheritance pattern of Branchio-Oto-Renal (BOR) syndrome?
Autosomal dominant
What percentage of profoundly deaf children are affected by BOR syndrome?
0.02
What gene is most commonly associated with BOR syndrome?
EYA1
What is the most common feature of BOR syndrome?
Hearing impairment
What are common otologic features of BOR syndrome?
Preauricular pits/tags, auricular malformations, microtia, EAC narrowing, ossicular malformations, absent oval window, cochlear hypoplasia/dysplasia.
What renal abnormalities are associated with BOR syndrome?
Renal agenesis, renal dysplasia.
What is the most common syndromic form of hereditary SNHL?
Pendred syndrome
What are the two main clinical features of Pendred syndrome?
Deafness and goiter.
What is the inheritance pattern of Pendred syndrome?
Autosomal recessive
What gene is associated with Pendred syndrome?
SLC26A4
What is a characteristic finding on imaging in Pendred syndrome?
Bilateral dilation of the vestibular aqueduct with or without cochlear hypoplasia or Mondini dysplasia.
What is the most common genetic cause of combined hearing loss and blindness?
Usher syndrome
What are the three main clinical features of Usher syndrome?
Sensorineural hearing loss, retinitis pigmentosa, and vestibular dysfunction.
What is the estimated prevalence of Usher syndrome worldwide?
400,000 cases
What is the most common inheritance pattern of Usher syndrome?
Autosomal recessive
What is the characteristic feature of Waardenburg syndrome?
Hearing loss plus pigmentary abnormalities.
What are common ocular findings in Waardenburg syndrome?
Dystopia canthorum, broad nasal root, confluence of the eyebrows, heterochromia iridis.
What gene is associated with Waardenburg syndrome?
PAX3
What is the inheritance pattern of Waardenburg syndrome?
Autosomal dominant
What syndrome is characterized by hearing loss and kidney abnormalities?
Alport syndrome
What type of collagen is affected in Alport syndrome?
Type IV collagen
What is the inheritance pattern of Alport syndrome?
X-linked
What are three key features of Alport syndrome?
Hematuric nephritis, progressive high-frequency SNHL, ocular changes.
What is the most common ocular abnormality in Alport syndrome?
Anterior lenticonus
What are the diagnostic criteria for Alport syndrome?
Family history of hematuria, chronic renal failure, progressive high-frequency SNHL, anterior lenticonus/macular flecks, histologic changes in glomerular basement membrane.
What is the recommended approach to diagnosing congenital hearing loss?
Multidisciplinary approach including genetic testing, history, physical exam, and audiologic tests.
What are two common screening tests for newborn hearing loss?
Auditory brainstem response (ABR) and otoacoustic emissions (OAE).
How often should hearing tests be conducted in the first year of life for children at risk?
Every 3 months.
How often should preschool-aged children undergo hearing tests?
Every 6 months.
What intervention is recommended for congenital hearing loss before the age of 2 years?
Hearing aids or cochlear implants to minimize speech and language delays.
What is the goal of newborn hearing screening?
To identify hearing loss as early as possible to facilitate early intervention.
Is newborn hearing screening mandatory?
Yes, it is mandated by law.