Usher syndrome

A Castiglione, C Möller - Audiology research, 2022 - mdpi.com
Usher syndrome (USH) is the most common genetic condition responsible for combined loss
of hearing and vision. Balance disorders and bilateral vestibular areflexia are also observed …

Cochlear implantation in children with single-sided deafness: a systematic review and meta-analysis

L Benchetrit, EA Ronner, S Anne… - … Otolaryngology–Head & …, 2021 - jamanetwork.com
Importance In 2019, the US Food and Drug Administration approved cochlear implantation
for children with single-sided deafness (SSD). The absence of robust clinical data specific to …

[HTML][HTML] American cochlear implant alliance task force guidelines for determining cochlear implant candidacy in children

AD Warner-Czyz, JT Roland Jr, D Thomas… - Ear and …, 2022 - journals.lww.com
This article summarizes the available evidence on pediatric cochlear implantation to provide
current guidelines for clinical protocols and candidacy recommendations in the United …

X-linked malformation deafness: neurodevelopmental symptoms are common in children with IP3 malformation and mutation in POU3F4

H Smeds, J Wales, E Karltorp, BM Anderlid… - Ear and …, 2022 - journals.lww.com
Objective: Incomplete partition type 3 (IP3) malformation deafness is a rare hereditary cause
of congenital or rapid progressive hearing loss. The children present with a severe to …

Chloride/Multiple Anion Exchanger SLC26A Family: Systemic Roles of SLC26A4 in Various Organs

D Lee, JH Hong - International Journal of Molecular Sciences, 2024 - mdpi.com
Solute carrier family 26 member 4 (SLC26A4) is a member of the SLC26A transporter family
and is expressed in various tissues, including the airway epithelium, kidney, thyroid, and …

Perceived benefits of cochlear implants by parents: expectations, decision-making process, and barriers to care

AM Ibrahim, AH El-Gilany, EWA Mohamed… - Journal of the Egyptian …, 2023 - Springer
Background Identifying predictive factors of the cochlear implant outcomes in pediatric
patients is critical in guiding tailored rehabilitation programs. The study aimed to assess …

Pendred syndrome, or not pendred syndrome? That is the question

P Tesolin, S Fiorino, S Lenarduzzi, E Rubinato… - Genes, 2021 - mdpi.com
Pendred syndrome (PDS) is the most common form of syndromic Hearing Loss (HL),
characterized by sensorineural HL, inner ear malformations, and goiter, with or without …

Navigating the Usher Syndrome Genetic Landscape: An Evaluation of the Associations between Specific Genes and Quality Categories of Cochlear Implant Outcomes

M Busi, A Castiglione - Audiology Research, 2024 - mdpi.com
Usher syndrome (US) is a clinically and genetically heterogeneous disorder that involves
three main features: sensorineural hearing loss, retinitis pigmentosa (RP), and vestibular …

Cochlear implantation in children with enlarged vestibular aqueduct: a systematic review of surgical implications and outcomes

MLU Hansen, ER Rasmussen… - Ear and …, 2023 - journals.lww.com
Objectives: This study investigated age at implantation, improvement in hearing and speech
perception outcomes, as well as surgical complications in pediatric cochlear implant …

Progressive Loss of Sensitivity to Electrical Stimulation After Cochlear Implantation in X-Linked Incomplete Partition Type III Deafness

M Eklöf, H Smeds, E Karltorp, J Wales - Ear and Hearing, 2024 - journals.lww.com
Objectives: Patients with X-linked incomplete partition type III (IP3) deafness treated with
cochlear implants exhibit higher “Most Comfortable Loudness”(MCL) levels of stimulation …