DISEASES OF THE INNER EAR 1.2 (AB)

Question 1

What is the first step in evaluating diseases of the inner ear?

Answer 1

History

Question 2

What are the key aspects to assess in the history of a patient with inner ear disease?

Answer 2

Laterality, chronicity, associated symptoms (tinnitus, pain, dizziness, vomiting, itchiness), trauma, compressive forces, type of noise exposure

Question 3

What are the practical physical examination methods for assessing hearing problems?

Answer 3

Otoscopy and hearing tests (tuning fork tests, pure tone audiometry, OAE, ABR, ASSR)

Question 4

What imaging studies are used for inner ear disease?

Answer 4

High-resolution CT of the temporal bone and MRI

Question 5

What are the requirements for normal hearing?

Answer 5

Integrity of middle ear mechanism and cochlear duct, functional Organ of Corti, inner ear homeostasis, adequate CNS pathway function

Question 6

What are the three types of hearing loss?

Answer 6

Sensorineural, conductive, mixed

Question 7

What is the most common type of hearing loss?

Answer 7

Sensorineural hearing loss

Question 8

What structures are affected in sensorineural hearing loss?

Answer 8

Cochlea, auditory nerve, or central nervous system

Question 9

What specialists are involved in managing sensorineural hearing loss?

Answer 9

Otolaryngologist, audiologist, radiologist, speech-language pathologist

Question 10

What are the classifications of hearing loss based on causality?

Answer 10

Genetic, environmental, multifactorial

Question 11

When does congenital hearing loss occur?

Answer 11

At birth

Question 12

When does acquired hearing loss occur?

Answer 12

Anytime after birth

Question 13

What is prelingual hearing loss?

Answer 13

Hearing loss occurring before speech development

Question 14

What is postlingual hearing loss?

Answer 14

Hearing loss occurring after speech development

Question 15

What is syndromic hearing loss?

Answer 15

Hearing loss with additional symptoms

Question 16

What is nonsyndromic hearing loss?

Answer 16

Hearing loss as the only symptom

Question 17

What type of hearing loss results from outer or middle ear dysfunction?

Answer 17

Conductive hearing loss

Question 18

What type of hearing loss results from inner ear or auditory nerve dysfunction?

Answer 18

Sensorineural or mixed hearing loss

Question 19

What are the classifications of hearing loss based on frequency loss?

Answer 19

Low frequency (<500 Hz), mid frequency (501-2000 Hz), high frequency (>2000 Hz)

Question 20

What is unilateral hearing loss?

Answer 20

Hearing loss in one ear

Question 21

What is bilateral hearing loss?

Answer 21

Hearing loss in both ears

Question 22

What is stable hearing loss?

Answer 22

Hearing loss severity remains unchanged

Question 23

What is progressive hearing loss?

Answer 23

Hearing loss severity increases over time

Question 24

What are the key pathophysiologic mechanisms of sensorineural hearing loss?

Answer 24

Structural abnormalities, metabolic dysfunction, vascular issues, basilar membrane overcrowding, noise trauma

Question 25

What are the most common causes of sensorineural hearing loss?

Answer 25

Congenital (syndromic and nonsyndromic), presbycusis, noise-induced hearing loss, head injury, Ménière’s disease, ototoxicity, systemic conditions, vestibular schwannoma

Question 26

What percentage of the world’s population has hearing loss?

Answer 26

Over 5% (430 million people)

Question 27

What percentage of children are affected by hearing loss?

Answer 27

34 million children

Question 28

What percentage of people over 60 have disabling hearing loss?

Answer 28

Over 25%

Question 29

What are prenatal causes of hearing loss?

Answer 29

Genetic factors (hereditary and non-hereditary), intrauterine infections

Question 30

What are perinatal causes of hearing loss?

Answer 30

Birth asphyxia, hyperbilirubinemia, low birth weight, other perinatal morbidities

Question 31

What are common childhood causes of hearing loss?

Answer 31

Chronic ear infections (CSOM), chronic nonsuppurative otitis media, meningitis, other infections

Question 32

What are common adult causes of hearing loss?

Answer 32

Chronic diseases, smoking, otosclerosis, age-related sensorineural degeneration, sudden sensorineural hearing loss

Question 33

What are risk factors for hearing loss across all ages?

Answer 33

Impacted cerumen, ear/head trauma, loud noise, ototoxic medications, work-related ototoxic chemicals, nutritional deficiencies, viral infections, progressive genetic hearing loss

Question 34

What are the impacts of unaddressed hearing loss?

Answer 34

Communication difficulties, cognitive decline, social isolation, economic impact, education and employment challenges

Question 35

What are the severity classifications of hearing loss based on decibels?

Answer 35

Mild (20-40 dB), Moderate (41-60 dB), Severe (61-80 dB), Profound (>80 dB)

Question 36

Which part of the cochlea receives high-frequency sounds?

Answer 36

The base

Question 37

Which part of the cochlea receives low-frequency sounds?

Answer 37

The apex

Question 38

Which part of the cochlea is damaged first in hearing loss?

Answer 38

The base, leading to initial high-frequency hearing loss

Question 39

What are the two main causes of congenital hearing loss?

Answer 39

Genetic and environmental factors

Question 40

What are the possible sites of damage in sensorineural hearing loss?

Answer 40

Hair cells (sensory loss), fluid system/homeostasis (metabolic problem), auditory nerve (neural loss), or all three (sensorineural hearing loss)

Question 41

What is the primary characteristic of non-syndromic hearing impairment?

Answer 41

Hearing loss with no other associated problems.

Question 42

What percentage of non-syndromic hearing impairment cases are autosomal recessive?

Answer 42

80-90%

Question 43

What gene is commonly associated with autosomal recessive non-syndromic hearing impairment?

Answer 43

Connexin 26 (GJB2)

Question 44

What percentage of non-syndromic hearing impairment cases are autosomal dominant?

Answer 44

0.25

Question 45

What gene is commonly associated with autosomal dominant non-syndromic hearing impairment?

Answer 45

ACTG1

Question 46

What percentage of non-syndromic hearing impairment cases are X-linked or mitochondrial?

Answer 46

1-2%

Question 47

What gene is associated with X-linked non-syndromic hearing impairment?

Answer 47

PRPS1

Question 48

What distinguishes syndromic hearing impairment from non-syndromic hearing impairment?

Answer 48

Syndromic hearing impairment includes deafness along with other clinical features.

Question 49

How many syndromes are associated with sensorineural hearing loss (SNHL)?

Answer 49

400

Question 50

What is the inheritance pattern of Branchio-Oto-Renal (BOR) syndrome?

Answer 50

Autosomal dominant

Question 51

What percentage of profoundly deaf children are affected by BOR syndrome?

Answer 51

0.02

Question 52

What gene is most commonly associated with BOR syndrome?

Answer 52

EYA1

Question 53

What is the most common feature of BOR syndrome?

Answer 53

Hearing impairment

Question 54

What are common otologic features of BOR syndrome?

Answer 54

Preauricular pits/tags, auricular malformations, microtia, EAC narrowing, ossicular malformations, absent oval window, cochlear hypoplasia/dysplasia.

Question 55

What renal abnormalities are associated with BOR syndrome?

Answer 55

Renal agenesis, renal dysplasia.

Question 56

What is the most common syndromic form of hereditary SNHL?

Answer 56

Pendred syndrome

Question 57

What are the two main clinical features of Pendred syndrome?

Answer 57

Deafness and goiter.

Question 58

What is the inheritance pattern of Pendred syndrome?

Answer 58

Autosomal recessive

Question 59

What gene is associated with Pendred syndrome?

Answer 59

SLC26A4

Question 60

What is a characteristic finding on imaging in Pendred syndrome?

Answer 60

Bilateral dilation of the vestibular aqueduct with or without cochlear hypoplasia or Mondini dysplasia.

Question 61

What is the most common genetic cause of combined hearing loss and blindness?

Answer 61

Usher syndrome

Question 62

What are the three main clinical features of Usher syndrome?

Answer 62

Sensorineural hearing loss, retinitis pigmentosa, and vestibular dysfunction.

Question 63

What is the estimated prevalence of Usher syndrome worldwide?

Answer 63

400,000 cases

Question 64

What is the most common inheritance pattern of Usher syndrome?

Answer 64

Autosomal recessive

Question 65

What is the characteristic feature of Waardenburg syndrome?

Answer 65

Hearing loss plus pigmentary abnormalities.

Question 66

What are common ocular findings in Waardenburg syndrome?

Answer 66

Dystopia canthorum, broad nasal root, confluence of the eyebrows, heterochromia iridis.

Question 67

What gene is associated with Waardenburg syndrome?

Answer 67

PAX3

Question 68

What is the inheritance pattern of Waardenburg syndrome?

Answer 68

Autosomal dominant

Question 69

What syndrome is characterized by hearing loss and kidney abnormalities?

Answer 69

Alport syndrome

Question 70

What type of collagen is affected in Alport syndrome?

Answer 70

Type IV collagen

Question 71

What is the inheritance pattern of Alport syndrome?

Answer 71

X-linked

Question 72

What are three key features of Alport syndrome?

Answer 72

Hematuric nephritis, progressive high-frequency SNHL, ocular changes.

Question 73

What is the most common ocular abnormality in Alport syndrome?

Answer 73

Anterior lenticonus

Question 74

What are the diagnostic criteria for Alport syndrome?

Answer 74

Family history of hematuria, chronic renal failure, progressive high-frequency SNHL, anterior lenticonus/macular flecks, histologic changes in glomerular basement membrane.

Question 75

What is the recommended approach to diagnosing congenital hearing loss?

Answer 75

Multidisciplinary approach including genetic testing, history, physical exam, and audiologic tests.

Question 76

What are two common screening tests for newborn hearing loss?

Answer 76

Auditory brainstem response (ABR) and otoacoustic emissions (OAE).

Question 77

How often should hearing tests be conducted in the first year of life for children at risk?

Answer 77

Every 3 months.

Question 78

How often should preschool-aged children undergo hearing tests?

Answer 78

Every 6 months.

Question 79

What intervention is recommended for congenital hearing loss before the age of 2 years?

Answer 79

Hearing aids or cochlear implants to minimize speech and language delays.

Question 80

What is the goal of newborn hearing screening?

Answer 80

To identify hearing loss as early as possible to facilitate early intervention.

Question 81

Is newborn hearing screening mandatory?

Answer 81

Yes, it is mandated by law.