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ENT Secrets > Chapter 52 - Pediatric Hearing Loss > Flashcards

Chapter 52 - Pediatric Hearing Loss Flashcards

1
Q

Most common environmental, non-genetic cause of congenital HL in developed countries

A

CMV

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2
Q

Genetic mutation to test for in patients with HL and enlarged vestibular aqueduct….which syndrome is this associated with?

A

SLC26A4

Pendred

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3
Q

Alport Syndrome: two main manifestations, inheritance

A

glomerulonephritis
progressive SNHL
85% X-L
15% AR

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4
Q

Child has congenital severe to profound HL presumed AR non-syndromic, and GJB2/6 testing NL…which syndrome should be considered?

A

Usher

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5
Q

Incidence of congenital hearing loss

A

Most common birth defect in developed countries

Congenital 2-4:1000

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6
Q

Prevalence of childhood HL (congenital/progressive/acquired)

A

1:50

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7
Q

All infants should have hearing screen before they are how old?

A

1 mo

43 states require newborn screening

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8
Q

For infants who do not pass newborn screening, what’s the next step?

A

F/u medical and audiological eval prior to 3mo old

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9
Q

Two methods of newborn hearing screening

A

OAE

AABR

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10
Q

How well do HL children do with language skills

A

If receive treatment at or before 6mo of age, have language skills comparable to peers regardless of degree of hearing loss

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11
Q

Impact of delayed Dx of HL on children

A

speech
academic
career
psychosocial well-being

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12
Q

Most critical period for children to need to hear

A

0-3yr
develop speech, auditory pathways, emotional bonds
If profound SNHL, cannot get auditory feedback –> cannot acquire motor speech skills

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13
Q

Hearing developmental milestones

A

<3mo: startled by loud, calmed by familiar

6mo: localize sounds
9mo: respond to name, mimic sounds
12mo: first meaningful words
18mo: react from any direction, follow commands to perform simple tasks
24mo: 20+ words (if monolingual)

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14
Q

RF for early childhood HL

A

FHx permanent childhood HL, LBW (<1500g), CF abnl, TORCHeS, maternal DM/EtOH/drug, hyperbilirubin needing exchange transfusion, Apgar <5 1min, <7 5min, postnatal infections assoc w/ HL, syndromes, neurodegen/sensorimotor neuropathy, caregiver concerns regarding hearing, head trauma, recurrent/persistent effusion lasting >3mo

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15
Q

Neonatal exposures associated with childhood HL

A

ototoxic
mechanical vent 5d+
ECMO

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16
Q

Causes of congenital hearing loss: inherited vs acquired

A

50% inherited
30% acquired/environmental
20% idiopathic

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17
Q

List 6 most common syndromes causing SNHL

A 
Usher
Pendred
Jervell Langee-Nielsen
Waardenburg
Branchio-oto-renal
Stickler
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18
Q

Usher syndrome

A

AR, resp for 10% congenital deafness
Most common type of AR syndromic HL, variable severity
Progressive blindness, vestibular dysfunction
MYO7A, USH2A, CDH23

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19
Q

Pendred syndrome

A

AR, resp for 5-10% AR HL
Multinodular euthymic goiter, inner ear (Mondini/enlarged aqueduct), abnormal perchlorate testing
SLC26A4

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20
Q

Jervell and Lange-Nielsen

A

3rd most common cause AR syndromic
1% of cases of recessive HL
severe bilateral HL, prolonged QT
KCNQ1, KCNE1

21
Q

Waardenburg

A

Most common cause AD, accounts for 2% of all congenital HL
telecanthus, white forelock, hyperplastic high nasal root, hyperplastic medial eyebrows, heterochromia irides
PAX3, MITF

22
Q

Branchio-oto-renal syndrome

A

AD
branchial fistula, renal abnormal, abnormal inner, middle, external ears including preauricular pits
EYA1, SIX1, SIX5

23
Q

Stickler syndrome

A

AD
Cleft palate, osteoarthritis, myopia, progressive SNHL
3 types based on genes: COL2A1, COL11A1, COL11A2

24
Q

Are most inherited causes of hearing loss due to syndromes or nonsyndromic?

A

Nonsyndromic

Single gene mendelian inheritance (>100 genes SNHL mapped, half are identified)

25
Q

Percentage of nonsyndromic that are AD vs AR

A

80% AR
15% AD
Remainder X-linked, mitochondrial

26
Q

Two most common genetic mutations causing HL

A

GJB2 - connexin-26 gap jxn, 30-50% of all congenital profound HL

SLC26A4- second most common cause genetic SNHL, often associated with Pendred syndrome, enlarged vestibular aqueduct

27
Q

Mondini dysplasia

A

1.5 turns in bony cochlea (only basal turn)
early or adult presentation, variable severity HL
AD

28
Q

Siebenmann Bing

A

complete membranous labyrinthine dysplasia
Very rare
associated with Jervell Lange Nielsen, Usher

29
Q

Schiebe dysplasia

A

cochleosaccular

Often noted in AR congenital HL

30
Q

Alexander dysplasia

A

cochlear basal turn

Related to familial HF SNHL

31
Q

When can someone be diagnosed with membranous dysplasia

A

post-mortem histopathological exam

32
Q

Enlarged vestibular aqueduct

A

1.5mm +
SNHL or mixed, may be at birth, or progressive through childhood or fluctuating
Sudden hearing loss spontaneously or with mild head trauma
Avoid contact sports

33
Q

Most common ossicular abnormality, and its cause

A

Malleus head fixation

due to incomplete pneumatization of epitympanic space

34
Q

Hearing loss severity with congenital absence of incus long process

A

maximal CHL (60 dB)

35
Q

Type of hearing loss associated with congenital stapes fixation

A

stable CHL

36
Q

Two common causes of acquired pediatric HL

A

MEE (inhibit vibration TM)

cholesteatoma, can erode ossicles or otic capsule

37
Q

Prevalence of congenital CMV, and percentage of those who will develop HL

A
  1. 58%

12. 8%

38
Q

How Sx vs ASx CMV infection affects HL type

A

Sx- bilateral

ASx- unilateral

39
Q

Percentage of children with bacterial meningitis who get HL

A

10%, due to inflammation –> cochlear ossification

40
Q

Causes of childhood bacterial meningitis (3)

A

S Pneumo
GBS
Neisseria
Less common H Flu b

41
Q

Detection and management of HL due to bacterial meningitis

A

frequent hearing eval, CT T bone

Urgent cochlear implant if ossification found to preserve some membranous cochlear architecture

42
Q

Image recommended to detect enlarged vestibular aqueduct

A

CT T Bone

43
Q

Study to obtain if profound congenital deafness and absent vestibular fxn

A

ECG (long WT w/ Jervell-Nielsen-Lange)

44
Q

Study to evaluate for Alport

A

Urinalysis

45
Q

Study to obtain if HL associated with cleft palate

A

ophthalmology (Stickler Syndrome)

46
Q

Medications causing ototoxicity used with pediatric patients

A

aminoglycosides, erythromycin, cisplatin, furosemide

47
Q

Diagnosis when robust OAEs but absent or markedly dysmorphic AABR response, plus varying degree of HL

A

Auditory Neuropathy Spectrum Disorder

ANSD

48
Q

Why genetic testing may be helpful with HL

A

may predict severity or other problems
chances of another child having it
provides info about whole family, so whole family must be addressed….counseling!

49
Q

Which hearing aid is most often used in children as it is adaptable to growing ear canal?

A

Behind the ear

ENT Secrets (79 decks)

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