Implementing Genotype-Informed Care in Pediatric SNHL: Advancing Genetic Evaluation, Multidisciplinary Coordination, and Precision Management : Pre-test

1.

How many people with SNHL do you provide care for in a typical month?

A. 1-4
B. 5-10
C. 11-15
D. 16-20
E. >20
F. Not applicable

2.

For those who practice in academic or community settings, please indicate your practice setting:

A. Academic
B. Community
C. Not applicable

3.

A 7-mo-old infant is referred after diagnostic ABR confirms bilateral, congenital, symmetric, moderate sensorineural hearing loss. Tympanometry is normal. There is no other abnormal history, physical findings, or family history. Ophthalmologic examination is pending. The newborn dried blood spot is available for retrospective congenital CMV testing. The family asks whether testing should begin with “the common deafness genes” before broader testing. Which testing strategy is most appropriate?

A. Order targeted GJB2/GJB6 testing first; if negative, proceed to temporal bone CT while also pursuing congenital CMV testing from the newborn dried blood spot
B. Order chromosomal microarray as the first-line genetic test because copy number variants are a major cause of congenital hearing loss and sequence-level variants are less likely in this infant
C. Order trio exome sequencing as the initial test because the absence of syndromic features and family history makes a de novo variant more likely than other causes
D. Order a comprehensive hearing-loss multigene panel, while also pursuing congenital CMV testing from the newborn dried blood spot

4.

A 13-mo-old with congenital bilateral severe to profound SNHL has limited hearing aid benefit. A hearing-loss panel shows biallelic pathogenic OTOF variants. What is the most appropriate next management step?

A. Initiate syndromic surveillance with renal ultrasound, ECG, thyroid testing, and ophthalmology before intervention
B. Coordinate genetic counseling and hearing intervention planning, including cochlear implantation and/or OTOF-directed gene therapy eligibility
C. Continue hearing aids and monitor for 12 mo because OTOF-related hearing loss often improves with maturation of auditory pathways
D. Treat the result as nondiagnostic until parental testing confirms variant phase

5.

A children’s hospital is redesigning its referral pathway for infants and children with confirmed SNHL. Which pathway best supports timely genetic evaluation and individualized management?

A. Have audiology confirm SNHL, then refer all pediatric cases to a coordinated ENT–genetics pathway, with genetic counseling integrated before and after testing
B. Refer only children with bilateral severe to profound SNHL or syndromic features; manage unilateral or mild SNHL with audiology follow-up unless progression occurs
C. Require temporal bone imaging and congenital CMV testing before genetics referral, because genetic evaluation is most useful only after nongenetic causes are excluded
D. Allow ENT or audiology to order a hearing-loss gene panel independently and refer to genetics only if the result is positive or a variant of uncertain significance is reported

6.

A 5-yr-old child with bilateral moderate to severe SNHL has fluctuating thresholds and a recent decline in the better-hearing ear. Imaging shows enlarged vestibular aqueducts. A hearing-loss panel identifies biallelic pathogenic SLC26A4 variants. Which counseling plan best integrates the genotype with hearing-management implications?

A. Hearing is expected to remain stable; continue annual audiograms and defer cochlear implant discussion unless profound loss is documented
B. SLC26A4 confirms mitochondrial aminoglycoside sensitivity; advise lifelong aminoglycoside avoidance
C. This result primarily affects recurrence risk; hearing management should remain phenotype-only because genotype does not inform prognosis or planning
D. SLC26A4-related hearing loss is often progressive; coordinate genetic counseling, close audiologic monitoring, vestibular/thyroid assessment if indicated

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Implementing Genotype-Informed Care in Pediatric SNHL: Advancing Genetic Evaluation, Multidisciplinary Coordination, and Precision Management

Jennifer L. Butler, AuD, CCC-A, CH-AP

John A. Germiller, MD, PhD

Amanda M. Odell, MS, LGC

Pre Assessment

Assess your current knowledge and clinical approach before beginning your video.

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