Exam Preview for 41474: Genetics of Pediatric Hearing Loss in the A

Genetics of Pediatric Hearing Loss in the Age of Precision Medicine, in partnership with the American Academy of Audiology

Please note: exam questions are subject to change.

1. Approximately what percentage of pediatric bilateral sensorineural hearing loss (SNHL) has a genetic etiology? Less than 5% 10-20% 50-60% More than 90%
2. Which of the following genes is the most frequently identified cause of genetic nonsyndromic SNHL? STRC GJB2 OTOF TMC1
3. Which of the following is NOT true of pediatric genetic testing for SNHL? May lead to specialist referral for management of syndromic hearing loss Facilitates increased acceptance and uptake of habilitation options by patients and families Provides knowledge of chance of recurrence in a future pregnancy to parents Enables diagnosis of all cases of SNHL
4. Which of the following forms of syndromic hearing loss is characterized by progressive loss of peripheral vision with an onset in late childhood or early adulthood? Usher syndrome Jervell and Lange-Nielsen syndrome Pendred syndrome Alport syndrome
5. Which of the following is NOT a type of information obtained from standard-of-care genetic testing for SNHL? SNHL prognosis Recurrence in other family member Syndromic vs. nonsyndromic nature of SNHL Ancestry information
6. Which of the following is NOT an ideal way for audiologists to support the genetic counseling and testing process for their patients? Make genetic testing recommendations-based patient’s SNHL presentation. Seek information on genetic counseling/testing options at their home institutions, including how to refer a patient for these services. Understand the potential benefits of genetic testing for SNHL to share with curious patients. Learn a little bit about your patient’s genetic diagnosis post-testing in order to direct and support patient questions.
7. Which of the following is the current standard-of-care first line genetic test to order for a pediatric patient presenting with nonsyndromic sensorineural hearing loss? GJB2 gene sequencing A gene panel that includes nonsyndromic hearing loss genes A gene panel that includes nonsyndromic and syndromic hearing loss genes Genome sequencing with analysis of all known hearing loss genes
8. Which of the following types of genetic tests commonly enables prenatal diagnosis of SNHL? Prenatal carrier screening of parents Older sibling’s evaluation for genetic kidney disease Direct-to-consumer genetic testing Genome sequencing
9. Which of the following statements is false regarding STRC-related hearing loss? Hearing loss caused by pathogenic variants in the STRC tends to cause a congenital mild to moderate sensorineural hearing loss. Contiguous multi-gene deletions of STRC and CATSPER2 are the most common type of pathogenic variant at this locus. The presence of an STRC pseudogene makes genetic testing for this locus technically challenging. Sensorineural hearing loss caused by copy number variants in the STRC is a rare form of pediatric sensorineural hearing loss.
10. Which of the following is required before genetic testing can take place? Patient understanding of all genes included on the test Written informed consent Blood sample Genetic counseling by a provider who specializes in hearing