Hearing Loss Flashcards

1
Q

What is the phenotype of Usher syndrome?

A

Hearing loss
Retinitis pigmentosa (makes cells in the retina break down slowly over time, causing vision loss)

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2
Q

How many newborns are born profoundly deaf

A

1 in 1,000

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3
Q

What percentage of children in the US have low or high-frequency hearing loss?

A

15%

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4
Q

What genes cause Usher syndrome?

A

USH2A, MYO7A (AR)

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5
Q

What percentage of hearing loss is due to preventable causes and what are those causes?

A

Viruses, prematurity and perinatal complications, head injury, ototoxicity, noise)
CMV is the most common viral cause

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6
Q

What ratio of genetic causes of hearing loss is syndromic/non-syndromic?

A

1/3 syndromic
2/3 non-syndromic (50% caused by Connexin mutations)

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7
Q

What are the characteristics that you measure in hearing loss?

A

Conductive vs sensorineural
Unilateral vs bilateral
Pattern-rising, sloping, flat
Congenital (65%) or acquired (35%)
Severity

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8
Q

What does the pattern of conductive hearing loss look like charted?

A

Two horizontal parallel lines

(Fluid in the ear, ear wax, external abnormality)

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9
Q

What does the pattern of sensorineural hearing loss look like charted?

A

Two lines together descending

(Damage to the inner ear)

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10
Q

What does the pattern of conductive and sensorineural hearing loss together look like charted?

A

Two parallel lines descending

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11
Q

What is diagnostic testing you would perform in Jervell-Lange-Nielsen syndrome (profound hearing loss at birth)?

A

EKG
Long QT syndrome, which is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats.

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12
Q

What is the phenotype of Alport syndrome?

A

Hearing loss
Kidney disease (blood in urine)–Urinalysis
Eye abnormalities that seldom lead to vision loss

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13
Q

What is the gene that causes Alport syndrome?

A

COL4A5 (X-linked)

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14
Q

What is the phenotype of Branchio-oto-renal syndrome?

A

Branchial cleft cysts in the neck
Hearing loss
Ear abnormalities
Ear pits/tags
Renal abnormalities–Renal ultrasound

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15
Q

What is the gene that causes Branchio-oto-renal syndrome?

A

EYA1 (AD)

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16
Q

What is the phenotype of Non-syndromic hearing loss and deafness (DFNB1)?

A

Congenital, non-progressive, mild to profound sensorineural hearing loss

17
Q

What genes cause Non-syndromic hearing loss and deafness (DFNB1)?

A

GJB2 and GJB6 (AR)

18
Q

What is the phenotype in Pendred syndrome?

A

Enlarged vestibular aqueduct–characteristic (MRI)
Severe to profound sensorineural hearing loss
Balance issues
Goiter (enlarged thyroid gland)

19
Q

What is the phenotype of Treacher Collins syndrome?

A

Affects facial bones and tissue
Underdeveloped facial bones, micrognathia
Hearing loss in 50%

20
Q

What gene causes Treacher Collins syndrome?

A

TCOF (AD)

21
Q

What is the phenotype of Waardenburg sydnrome?

A

Heterochromia
Patch of white hair on head
Moderate to profound congenital hearing loss although most have normal hearing

22
Q

How does the cochlear implant work?

A

Transmits sound directly to the auditory nerve through electrical stimulation of the cochlea

23
Q

What is the earliest you can implant a cochlear implant?

A

9 months
Hearing aid trial for minimum of 3-6 mos