Congenital sensorineural hearing loss

S Shave, C Botti, K Kwong - Pediatric Clinics, 2022 - pediatric.theclinics.com
Congenital hearing loss can be defined as hearing loss present at birth and is due to an
impairment in the conduction and/or conversion of sound into electrical nerve impulses. 1 …

Comprehensive medical evaluation of pediatric bilateral sensorineural hearing loss

S Kılıç, MH Bouzaher, MS Cohen… - Laryngoscope …, 2021 - Wiley Online Library
Children with bilateral sensorineural hearing loss (SNHL) should undergo a comprehensive
medical evaluation to determine the underlying etiology and help guide treatment and …

Assessment of hearing screening combined with limited and expanded genetic screening for newborns in Nantong, China

QW Zhu, MT Li, X Zhuang, K Chen, WQ Xu… - JAMA Network …, 2021 - jamanetwork.com
Importance Early identification and intervention for newborns with hearing loss (HL) may
lead to improved physiological and social-emotional outcomes. The current newborn …

Using Xenopus to discover new candidate genes involved in BOR and other congenital hearing loss syndromes

SJ Neal, A Rajasekaran, N Jusić… - … Zoology Part B …, 2024 - Wiley Online Library
Hearing in infants is essential for brain development, acquisition of verbal language skills,
and development of social interactions. Therefore, it is important to diagnose hearing loss …

Association of sleep duration and noise exposure with hearing loss among Chinese and American adults: two cross-sectional studies

E Wu, J Ni, Z Zhu, H Xu, J Ci, L Tao, T Xie - BMJ open, 2022 - bmjopen.bmj.com
Objectives To examine the associations of sleep duration (SPD) and noise exposure with
hearing loss (HL) among Chinese and American adults. Design Two cross-sectional studies …

Selective Inner Hair Cell Loss in a Neonate Harbor Seal (Phoca vitulina)

M Morell, L Rojas, M Haulena, B Busse, U Siebert… - Animals, 2022 - mdpi.com
Simple Summary Congenital hearing loss (ie, hearing impairment present at birth) is
recognized in humans and other terrestrial species, but there is a lack of information on …

A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype–phenotype Association

S Roncareggi, K Girardi, F Fioredda, L Pedace… - Journal of Clinical …, 2023 - Springer
GATA2 deficiency is a rare disorder encompassing a broadly variable phenotype and its
clinical picture is continuously evolving. Since it was first described in 2011, up to 500 …

Otoferlin gene therapy restores hearing in deaf children

JV Brigande - Molecular Therapy, 2024 - cell.com
The atmosphere prior to the start of the Late-Breaking Presidential Symposium on Otoferlin
Gene Therapy Clinical Trials at the Association for Research in Otolaryngology MidWinter …

Single versus multigene testing for hereditary hearing loss: use and costs in a commercially insured cohort

PK Moon, ZJ Qian, DA Stevenson… - … –Head and Neck …, 2023 - Wiley Online Library
Objective The objectives of this study were to describe trends in single‐gene GJB2/6
(connexin 26/30) and multigene hearing loss panel (HLP) testing for hereditary hearing loss …

Audiological profile of deaf and hard-of-hearing children under six years old in the “HI HOPES cohort” in South Africa (2006–2011)

C Störbeck, A Young, S Moodley… - International Journal of …, 2023 - Taylor & Francis
Background This study concerns deaf children under six years in the South African HI
HOPES Cohort. Objective To examine their audiological profile, aetiological risk factors for …