1.
Breakdown congenital hearing loss for us. Give us numbers for inheritance mechanism, syndromic vs. non-syndromic, etc.
2.
Discuss penetrance vs. expression.
3.
Differentiate congenital vs. hereditary hearing loss.
4.
Discuss syndromic vs. non-syndromic hearing loss.
5.
Breakdown the most common causes of syndromic hearing loss into inheritability types.
6.
List the major causes of congenital conductive hearing loss.
7.
Tell us about syndromes that cause renal problems with hearing loss. Cardiac problems with hearing loss.
8.
What are some syndromes with hearing loss and limb abnormalities? Vision problems with hearing loss.
9.
What intrauterine infectious diseases cause hearing loss? Tell us about each and how to diagnosis them.
10.
Why might a patient with an isolated cleft palate have hearing loss? What is the anatomy and physiology behind this?
11.
What are the important vestibular considerations before removing an acoustic neuroma in a patient with NF-2?
12.
What is the significance of connexin 26? Who should be screened for this mutation? What are the limitations of testing?
13.
What type of genetic screening should be done for patients with congenital hearing loss?
Reference(s):
Hone, S. W., & Smith, R. J. H. (2003). Genetic screening for hearing loss. Clinical Otolaryngology and Allied Sciences, 28(4), 285–290.
14.
What is mitochondrial deafness?
15.
Discuss the methods of newborn hearing screening including the advantages and disadvantages of each.
16.
Discuss hearing loss seen in NICU patients.
17.
A two-week old neonate is being treated with aminoglycoside. She is found to have hearing loss. Are there any genetic factors in aminoglycoside toxicity?