DISEASES OF THE INNER EAR 1.2 (AB) Flashcards

1
Q

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

A

History

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2
Q

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

A

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

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3
Q

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

A

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

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4
Q

What imaging studies are used for inner ear disease?

A

High-resolution CT of the temporal bone and MRI

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5
Q

What are the requirements for normal hearing?

A

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

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6
Q

What are the three types of hearing loss?

A

Sensorineural, conductive, mixed

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7
Q

What is the most common type of hearing loss?

A

Sensorineural hearing loss

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8
Q

What structures are affected in sensorineural hearing loss?

A

Cochlea, auditory nerve, or central nervous system

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9
Q

What specialists are involved in managing sensorineural hearing loss?

A

Otolaryngologist, audiologist, radiologist, speech-language pathologist

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10
Q

What are the classifications of hearing loss based on causality?

A

Genetic, environmental, multifactorial

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11
Q

When does congenital hearing loss occur?

A

At birth

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12
Q

When does acquired hearing loss occur?

A

Anytime after birth

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13
Q

What is prelingual hearing loss?

A

Hearing loss occurring before speech development

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14
Q

What is postlingual hearing loss?

A

Hearing loss occurring after speech development

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15
Q

What is syndromic hearing loss?

A

Hearing loss with additional symptoms

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16
Q

What is nonsyndromic hearing loss?

A

Hearing loss as the only symptom

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17
Q

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

A

Conductive hearing loss

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18
Q

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

A

Sensorineural or mixed hearing loss

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19
Q

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

A

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

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20
Q

What is unilateral hearing loss?

A

Hearing loss in one ear

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21
Q

What is bilateral hearing loss?

A

Hearing loss in both ears

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22
Q

What is stable hearing loss?

A

Hearing loss severity remains unchanged

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23
Q

What is progressive hearing loss?

A

Hearing loss severity increases over time

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24
Q

What are the key pathophysiologic mechanisms of sensorineural hearing loss?

A

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

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25
Q

What are the most common causes of sensorineural hearing loss?

A

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

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26
Q

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

A

Over 5% (430 million people)

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27
Q

What percentage of children are affected by hearing loss?

A

34 million children

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28
Q

What percentage of people over 60 have disabling hearing loss?

A

Over 25%

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29
Q

What are prenatal causes of hearing loss?

A

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

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30
Q

What are perinatal causes of hearing loss?

A

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

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31
Q

What are common childhood causes of hearing loss?

A

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

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32
Q

What are common adult causes of hearing loss?

A

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

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33
Q

What are risk factors for hearing loss across all ages?

A

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

34
Q

What are the impacts of unaddressed hearing loss?

A

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

35
Q

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

A

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

36
Q

Which part of the cochlea receives high-frequency sounds?

37
Q

Which part of the cochlea receives low-frequency sounds?

38
Q

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

A

The base, leading to initial high-frequency hearing loss

39
Q

What are the two main causes of congenital hearing loss?

A

Genetic and environmental factors

40
Q

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

A

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

41
Q

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

A

Hearing loss with no other associated problems.

42
Q

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

43
Q

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

A

Connexin 26 (GJB2)

44
Q

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

45
Q

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

46
Q

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

47
Q

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

48
Q

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

A

Syndromic hearing impairment includes deafness along with other clinical features.

49
Q

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

50
Q

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

A

Autosomal dominant

51
Q

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

52
Q

What gene is most commonly associated with BOR syndrome?

53
Q

What is the most common feature of BOR syndrome?

A

Hearing impairment

54
Q

What are common otologic features of BOR syndrome?

A

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

55
Q

What renal abnormalities are associated with BOR syndrome?

A

Renal agenesis, renal dysplasia.

56
Q

What is the most common syndromic form of hereditary SNHL?

A

Pendred syndrome

57
Q

What are the two main clinical features of Pendred syndrome?

A

Deafness and goiter.

58
Q

What is the inheritance pattern of Pendred syndrome?

A

Autosomal recessive

59
Q

What gene is associated with Pendred syndrome?

60
Q

What is a characteristic finding on imaging in Pendred syndrome?

A

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

61
Q

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

A

Usher syndrome

62
Q

What are the three main clinical features of Usher syndrome?

A

Sensorineural hearing loss, retinitis pigmentosa, and vestibular dysfunction.

63
Q

What is the estimated prevalence of Usher syndrome worldwide?

A

400,000 cases

64
Q

What is the most common inheritance pattern of Usher syndrome?

A

Autosomal recessive

65
Q

What is the characteristic feature of Waardenburg syndrome?

A

Hearing loss plus pigmentary abnormalities.

66
Q

What are common ocular findings in Waardenburg syndrome?

A

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

67
Q

What gene is associated with Waardenburg syndrome?

68
Q

What is the inheritance pattern of Waardenburg syndrome?

A

Autosomal dominant

69
Q

What syndrome is characterized by hearing loss and kidney abnormalities?

A

Alport syndrome

70
Q

What type of collagen is affected in Alport syndrome?

A

Type IV collagen

71
Q

What is the inheritance pattern of Alport syndrome?

72
Q

What are three key features of Alport syndrome?

A

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

73
Q

What is the most common ocular abnormality in Alport syndrome?

A

Anterior lenticonus

74
Q

What are the diagnostic criteria for Alport syndrome?

A

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

75
Q

What is the recommended approach to diagnosing congenital hearing loss?

A

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

76
Q

What are two common screening tests for newborn hearing loss?

A

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

77
Q

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

A

Every 3 months.

78
Q

How often should preschool-aged children undergo hearing tests?

A

Every 6 months.

79
Q

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

A

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

80
Q

What is the goal of newborn hearing screening?

A

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

81
Q

Is newborn hearing screening mandatory?

A

Yes, it is mandated by law.