Congenital Genetic & Non Genetic SNHL Flashcards

1
Q

Approximately 70% of genetic HL is inherited in a an ____________.

A

autosomal recessive pattern

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2
Q

Approximately 15% of genetic HL is inherited in an ____________.

A

autosomal dominant pattern

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3
Q

The remaining _____ % include all the other forms of inheritance

A

15

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4
Q

Approximately 2% of genetic HL can be attributed to a__________.

A

X-linked pattern

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5
Q

3 Congenital Genetic SNHLs

A
  1. Connexin 26
  2. Usher syndrome
  3. Waardenberg syndrome
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6
Q

_______ is a key constituent of the gap junctions in the inner ear.

A

Connexin 26

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7
Q

When connexin 26 does not function properly due to genetic mutations, the gap junctions do not function properly and _______________.

A

potassium ions cannot be recycled

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8
Q

Gap junctions :

A

recycle potassium ions

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9
Q

Mutations of the gene that codes for Cx26 is estimated to be responsible for approximately ______ of all the recessive cases of non-syndromic congenital hearing loss.

A

-50%

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10
Q

Non-Syndromic: CONNEXIN 26 (CX26) Occurs in ______

A

1/2500-1/5000

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11
Q

Common Forms of Autosomal Recessive Syndromic SNHL:

A
  • Usher
  • Pendred
  • Jervell and Lange-Nielson
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12
Q

This is the most common eye/ear syndrome:

A

Usher Syndrome

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13
Q

Usher Syndrome is the basis for approximately ____ of all children with ____________.

A
  • 3-10%

- severe to profound SNHL

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14
Q

Characteristics/clinical findings of Usher Syndrome:

A
  • Bilateral SNHL
  • Moderate to profound
  • Typically congenital
  • Can be progressive
  • varying problems with balance
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15
Q

Waardenburg Syndrome

A

is a Autosomal Dominant Syndromic:

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16
Q

What are some of the characteristics of Waardenburg Syndrome?

A

– Partial albinism (white forelock)
– Laterally positioned medial canthi (dystopia canthorum) – Different colored eyes (heterochromia iridis) or bright blue eyes

17
Q

Hearing Loss (in a quarter of cases) caused by Waardenburg Syndrome?

A

– Congenital SNHL
– Slight to profound
– Unilateral or bilateral
– Varying configuration

18
Q

Congenital non-genetic SNHL - Just remember TORCHS

A
– Toxoplasmosis 
– Rubella 
– Cytomegalovirus 
– Herpes Simplex Virus 
– Congenital Syphilis
19
Q

CMV stands for:

A

CYTO -MEGALO- VIRUS

20
Q

CMV is the and most complex member of the __________ of DNA viruses.

A

Herpes family

21
Q

Varicella-zoster virus (VZV) —>

A

chicken pox and

shingles

22
Q

Herpes simplex virus (HSV) —>

A

cold sores and genital ulcers

23
Q

Epstein-Barr virus —>

A

infectious mononucleosis

24
Q

CMV has a special impact on:

A

– Epithelial cells
– Ependymal cells lining the ventricles
– Organ of Corti
– Neurons of the VIII cranial nerve

25
In the U.S., between _______ of adults will have acquired CMV by age ____.
- 50% to 85% | - 40
26
_______ during pregnancy accounts for most cases of congenital CMV.
Primary maternal infection
27
Congenital CMV infection occurs in _____ of all live births.
0.4% to 2.3% - which is approximately 40,000 neonates a | year.
28
90% of CMV cases are _______ at birth
asymptomatic (appear normal)
29
The (Majority (85%) of these asymptomatic congenital | CMV cases will _____.
remain normal
30
In 15% of asymptomatic congenital CMV cases, these disabilities may develop:
• Congenital or delayed onset, progressive sensorineural hearing loss • Expressive language delays • Learning disabilities
31
Of congenital CMV cases ___ are symptomatic at birth.
10%
32
CONGENITAL CMV Hearing Loss :
* SNHL * May be unilateral or bilateral * May be congenital or delayed onset * May be mild to profound * Frequently progressive * Unpredictable configuration
33
30 to 60 % of CMV SNHL are ______ and affect __________.
- symptomatic | - 1200 to 2400 annually
34
13 to 24 % of CMV SNHL are ______ and affect ___________.
- asymptomatic | - 4600 to 8600 annually
35
A-CMV results in ____ times as many SNHLs as does S-CMV
2 to 7
36
________ CMV infection causes a number of significant problems, including hearing loss.
Congenital
37
To confirm congenital infection, viral testing within ______ weeks of birth is needed.
3