Congenital Genetic & Non Genetic SNHL

Question 1

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

Answer 1

autosomal recessive pattern

Question 2

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

Answer 2

autosomal dominant pattern

Question 3

The remaining _____ % include all the other forms of inheritance

Answer 3

15

Question 4

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

Answer 4

X-linked pattern

Question 5

3 Congenital Genetic SNHLs

Answer 5

1. Connexin 26
2. Usher syndrome
3. Waardenberg syndrome

Question 6

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

Answer 6

Connexin 26

Question 7

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

Answer 7

potassium ions cannot be recycled

Question 8

Gap junctions :

Answer 8

recycle potassium ions

Question 9

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.

Answer 9

-50%

Question 10

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

Answer 10

1/2500-1/5000

Question 11

Common Forms of Autosomal Recessive Syndromic SNHL:

Answer 11

• Usher
• Pendred
• Jervell and Lange-Nielson

Question 12

This is the most common eye/ear syndrome:

Answer 12

Usher Syndrome

Question 13

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

Answer 13

• 3-10%

- severe to profound SNHL

Question 14

Characteristics/clinical findings of Usher Syndrome:

Answer 14

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

Question 15

Waardenburg Syndrome

Answer 15

is a Autosomal Dominant Syndromic:

Question 16

What are some of the characteristics of Waardenburg Syndrome?

Answer 16

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

Question 17

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

Answer 17

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

Question 18

Congenital non-genetic SNHL - Just remember TORCHS

Answer 18

– Toxoplasmosis 
– Rubella 
– Cytomegalovirus 
– Herpes Simplex Virus 
– Congenital Syphilis

Question 19

CMV stands for:

Answer 19

CYTO -MEGALO- VIRUS

Question 20

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

Answer 20

Herpes family

Question 21

Varicella-zoster virus (VZV) —>

Answer 21

chicken pox and

shingles

Question 22

Herpes simplex virus (HSV) —>

Answer 22

cold sores and genital ulcers

Question 23

Epstein-Barr virus —>

Answer 23

infectious mononucleosis

Question 24

CMV has a special impact on:

Answer 24

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

Question 25

In the U.S., between _______ of adults will have acquired CMV by age ____.

Answer 25

• 50% to 85%

- 40

Question 26

_______ during pregnancy accounts for most cases of congenital CMV.

Answer 26

Primary maternal infection

Question 27

Congenital CMV infection occurs in _____ of all live births.

Answer 27

0.4% to 2.3% - which is approximately 40,000 neonates a

year.

Question 28

90% of CMV cases are _______ at birth

Answer 28

asymptomatic (appear normal)

Question 29

The (Majority (85%) of these asymptomatic congenital

CMV cases will _____.

Answer 29

remain normal

Question 30

In 15% of asymptomatic congenital CMV cases, these disabilities may develop:

Answer 30

• Congenital or delayed onset, progressive
sensorineural hearing loss
• Expressive language delays
• Learning disabilities

Question 31

Of congenital CMV cases ___ are symptomatic at birth.

Answer 31

10%

Question 32

CONGENITAL CMV Hearing Loss :

Answer 32

• SNHL
• May be unilateral or bilateral
• May be congenital or delayed onset
• May be mild to profound
• Frequently progressive
• Unpredictable configuration

Question 33

30 to 60 % of CMV SNHL are ______ and affect __________.

Answer 33

• symptomatic

- 1200 to 2400 annually

Question 34

13 to 24 % of CMV SNHL are ______ and affect ___________.

Answer 34

• asymptomatic

- 4600 to 8600 annually

Question 35

A-CMV results in ____ times as many SNHLs as does S-CMV

Answer 35

2 to 7

Question 36

________ CMV infection causes a number of significant problems, including hearing loss.

Answer 36

Congenital

Question 37

To confirm congenital infection, viral testing within ______ weeks of birth is needed.

Answer 37

3