Genetic testing for pediatric sensorineural hearing loss in the era of gene therapy

AE Shearer - Current Opinion in Otolaryngology & Head and Neck …, 2024 - journals.lww.com
Genetic testing has become critical for personalized care for children with hearing loss.
Recent studies have shown a 43% overall diagnostic yield for genetic testing for pediatric …

Trends in the diagnosis of paediatric sensorineural hearing loss: a scoping review of gene panels, exome and genome sequencing

A Serrano-Herrera, JA Lopez-Escamez… - … Journal of Audiology, 2024 - Taylor & Francis
Objective To review recent advances in genetic diagnosis of sensorineural hearing loss
(SNHL) using gene panels, exome, and genome sequencing. Design A scoping review …

Unilateral Sensorineural Hearing Loss in Children: Etiology, Audiological Characteristics, and Treatment

M Aldè, D Zanetti, U Ambrosetti, E Monaco… - Children, 2024 - mdpi.com
The aim of this study was to evaluate audiological characteristics and parents' opinions on
hearing device use in children with unilateral sensorineural hearing loss (USNHL) who …

Newborn Screening for Deafness/Hard of Hearing in the Genomic Era

ABS Giersch, CC Morton - Clinical Chemistry, 2025 - academic.oup.com
Background Newborn hearing screening is a physiologic screen to identify infants who may
be deaf or hard of hearing (DHH) and would benefit from early intervention. Typically, an …

Retrospective Analysis of the Outcomes of Genetic Testing in Patients Suspected to Have Hereditary Hearing Loss or Deafness

A Bowden, A Hubbel, L Smith, H Wang… - American Journal of …, 2024 - ASHA
Purpose: Uncorrected hearing loss can result in detrimental sequelae. Research addressing
clinical presentation and genetic testing would inform clinical decision making. Method: A …

Human Organoids for Rapid Validation of Gene Variants Linked to Cochlear Malformations

MF Zafeer, M Ramzan, D Duman, A Mutlu, S Seyhan… - 2024 - researchsquare.com
Developmental anomalies of the hearing organ, the cochlea, are diagnosed in
approximately one-fourth of individuals with congenital deafness. Most patients with …

[HTML][HTML] Sensorineural Hearing Loss in Children: The First Visit with Caregivers

S Anne, D Choo, M Cohen, MA Kenna, JEC Lieu - bulletin.entnet.org
Shutterstock 2324073949 Hearing loss in children begins with an incidence of one to three
per 1,000 newborns and increases to 150 per 1,000 in adolescents. 1 Parental reactions …

[HTML][HTML] Application of Genetic Information to Cochlear Implantation in Clinical Practice

CC Wu - Journal of Audiology & Otology, 2024 - ncbi.nlm.nih.gov
Cochlear implantation is currently the treatment of choice for children with severe-to-
profound sensorineural hearing impairment (SNHI). However, the outcomes with cochlear …