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Expert Perspectives on Pediatric Sensorineural Hearing Loss: Genetic Evaluation, Cochlear Implantation, and Emerging Gene Therapies

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Released: October 29, 2026

Expiration: October 28, 2027

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In this commentary, 2 experts address key clinical questions regarding the evaluation and management of pediatric sensorineural hearing loss (SNHL), with an emphasis on genetic testing, diagnostic evaluation, and emerging gene therapies. The discussion explores the benefits of universal congenital cytomegalovirus screening, considerations for early cochlear implantation, and the role of imaging and genetic testing in identifying underlying causes of hearing loss. The experts also examine the clinical utility of genetic testing in unilateral and progressive SNHL, indications for broader genomic sequencing following nondiagnostic testing, and the potential role of rapid point-of-care MT-RNR1 testing in preventing aminoglycoside-induced hearing loss. Current evidence and eligibility considerations for approved and investigational gene therapies are also addressed, highlighting how advances in genetic diagnosis and treatment may inform individualized management, patient counseling, and referral decisions.

Expert Perspectives on Pediatric SNHL

Pre Assessment

Assess your current knowledge and clinical approach before beginning your ClinicalThought.
1.

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

2.

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

3.

A 14-month-old child with congenital bilateral moderate to severe SNHL has stable hearing with appropriately fitted hearing aids. Congenital CMV testing is negative, development is age appropriate, and examination is unrevealing. A comprehensive hearing loss panel identifies biallelic pathogenic variants in SLC26A4. Genetic counseling confirms autosomal recessive inheritance and discusses possible Pendred syndrome or nonsyndromic enlarged vestibular aqueduct–associated hearing loss. Which management plan best applies these genetic panel findings to individualized care?