Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases.

Although more than 140 genes have been associated with non-syndromic hereditary hearing loss (HL), at least half of the cases remain unexplained in medical genetic testing. One reason is that pathogenic variants are located in 'novel' deafness genes. A variant prioritization approach was used to identify novel (candidate) genes for HL.

Treatment-related hearing loss in weekly versus triweekly cisplatin chemoradiation for head and neck cancer.

Purpose: Cisplatin-induced hearing loss is a common side effect in patients treated with cisplatin-based chemoradiation (CRT) for head and neck squamous cell carcinoma. The extent of hearing loss after concurrent CRT was compared between triweekly (3 × 100 mg/m) and weekly (7 × 40 mg/m) cisplatin CRT.

Method: This retrospective cohort study was conducted in the Antoni van Leeuwenhoek Hospital and included 129 patients with cisplatin-based CRT for head and neck cancer (72 treated in the triweekly and 57 in the weekly regimen).

Long-Term Outcomes of Cochlear Implantation in Usher Syndrome.

Objectives: Usher syndrome (USH), characterized by bilateral sensorineural hearing loss (SNHL) and retinitis pigmentosa (RP), prompts increased reliance on hearing due to progressive visual deterioration. It can be categorized into three subtypes: USH type 1 (USH1), characterized by severe to profound congenital SNHL, childhood-onset RP, and vestibular areflexia; USH type 2 (USH2), presenting with moderate to severe progressive SNHL and RP onset in the second decade, with or without vestibular dysfunction; and USH type 3 (USH3), featuring variable progressive SNHL beginning in childhood, variable RP onset, and diverse vestibular function. Previous studies evaluating cochlear implant (CI) outcomes in individuals with USH used varying or short follow-up durations, while others did not evaluate outcomes for each subtype separately.

A lifestyle screening tool for young children in the community: needs and wishes of parents and youth healthcare professionals.

Background: Youth healthcare has an important role in promoting a healthy lifestyle in young children in order to prevent lifestyle-related health problems. To aid youth healthcare in this task, a new lifestyle screening tool will be developed. The aim of this study was to explore how youth healthcare professionals (YHCP) could best support parents in improving their children's lifestyle using a new lifestyle screening tool for young children.

Surgical Treatment for Troublesome Mastoid Cavities: Canal Wall Reconstruction With Bony Obliteration Versus Subtotal Petrosectomy.

Introduction: A chronically discharging modified radical mastoid cavity may require surgical intervention. We aim to explore two techniques.

Objective: To compare outcomes of subtotal petrosectomy (STP) and canal wall reconstruction with bony obliteration technique (CWR-BOT).

Stable long-term outcomes after cochlear implantation in subjects with TMPRSS3 associated hearing loss: a retrospective multicentre study.

Background: The spiral ganglion hypothesis suggests that pathogenic variants in genes preferentially expressed in the spiral ganglion nerves (SGN), may lead to poor cochlear implant (CI) performance. It was long thought that TMPRSS3 was particularly expressed in the SGNs. However, this is not in line with recent reviews evaluating CI performance in subjects with TMPRSS3-associated sensorineural hearing loss (SNHL) reporting overall beneficial outcomes.

Remote Cochlear Implant Assessments: Validity and Stability in Self-Administered Smartphone-Based Testing.

Objectives: The stability of remote testing in cochlear implant care was studied by testing the influence of time-of-day, listener fatigue, and motivation on the outcomes of the aided threshold test (ATT) and digit triplets test (DTT) in cochlear implant (CI) recipients using self-tests at-home on a smartphone or tablet.

Design: A single-center repeated measures cohort study design (n = 50 adult CI recipients). The ATT and DTT were tested at-home ten times, with nine of these sessions planned within a period of eight days.

Development and evaluation study of FLY-Kids: a new lifestyle screening tool for young children.

Evaluating, discussing, and advising on young children's lifestyles may contribute to timely modification of unhealthy behaviour and prevention of adverse health consequences. We aimed to develop and evaluate a new lifestyle screening tool for children aged 1-3 years. The lifestyle screening tool "FLY-Kids" was developed using data from lifestyle behaviour patterns of Dutch toddlers, age-specific lifestyle recommendations, target group analyses, and a Delphi process.

Behavior Change Techniques That Prevent or Decrease Obesity in Youth With a Low Socioeconomic Status: A Systematic Review and Meta-Analysis.

Interventions, targeting youth, are necessary to prevent obesity later in life. Especially youth with low socioeconomic status (SES) are vulnerable to develop obesity. This meta-analysis examines the effectiveness of behavioral change techniques (BCTs) to prevent or reduce obesity among 0 to 18-year-olds with a low SES in developed countries.

Analysis of Rotterdam Study cohorts confirms a previously identified in-frame deletion as a prevalent genetic factor in phenotypically variable adult-onset hearing loss (DFNA21) in the Netherlands.

Background: A 12-nucleotide in-frame deletion was recently identified as a relatively common and highly penetrant cause of autosomal dominant non-syndromic sensorineural hearing loss, type DFNA21, in the Netherlands. The associated hearing phenotype is variable. The allele frequency (AF) of 0.

The Effectiveness of the Interventions to Reduce Sound Levels in the ICU: A Systematic Review.

Unlabelled: Excessive noise is ubiquitous in the ICU, and there is growing evidence of the negative impact on work performance of caregivers. This study aims to determine the effectiveness of interventions to reduce noise in the ICU.

Data Sources: Databases of PubMed, EMBASE, PsychINFO, CINAHL, and Web of Science were systematically searched from inception to September 14, 2022.

Genotype and Phenotype Analyses of a Novel Variant (c.2512C>T p.(Pro838Ser)) Associated with DFNA6/14/38.

The aim of this study is to contribute to a better description of the genotypic and phenotypic spectrum of DFNA6/14/38 and aid in counseling future patients identified with this variant. Therefore, we describe the genotype and phenotype in a large Dutch-German family (W21-1472) with autosomal dominant non-syndromic, low-frequency sensorineural hearing loss (LFSNHL). Exome sequencing and targeted analysis of a hearing impairment gene panel were used to genetically screen the proband.

Genetic Hearing Loss Affects Cochlear Processing.

The relationship between speech recognition and hereditary hearing loss is not straightforward. Underlying genetic defects might determine an impaired cochlear processing of sound. We obtained data from nine groups of patients with a specific type of genetic hearing loss.

The Preventive Child and Youth Healthcare Service in the Netherlands: The State of the Art and Challenges Ahead.

The Netherlands has a unique system for promoting child and youth health, known as the preventive Child and Youth Healthcare service (CYH). The CYH makes an important contribution to the development and health of children and young people by offering (anticipatory) information, immunisation, and screening, identifying care needs and providing preventive support to children and their families from birth up to the age of 18 years. The CYH is offered free of charge and offers basic preventive care to all children and special preventive care to children who grow up in disadvantaged situations, such as children growing up in poverty or in a family where one of the members has a chronic health condition.

Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants.

Usher syndrome (USH) is an autosomal recessively inherited disease characterized by sensorineural hearing loss (SNHL) and retinitis pigmentosa (RP) with or without vestibular dysfunction. It is highly heterogeneous both clinically and genetically. Recently, variants in the arylsulfatase G (ARSG) gene have been reported to underlie USH type IV.

Genotype-Phenotype Correlations of Pathogenic Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis.

Pathogenic missense variants in are associated with DFNA9, an autosomal dominantly inherited type of progressive sensorineural hearing loss with or without vestibular dysfunction. This study is a comprehensive overview of genotype-phenotype correlations using the PRISMA and HuGENet guidelines. Study characteristics, risk of bias, genotyping and data on the self-reported age of onset, symptoms of vestibular dysfunction, normative test results for vestibular function, and results of audiovestibular examinations were extracted for each underlying pathogenic variant.

Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.

Pathogenic variants in SLC26A4 have been associated with autosomal recessive hearing loss (arHL) and a unilateral or bilateral enlarged vestibular aqueduct (EVA). SLC26A4 is the second most frequently mutated gene in arHL. Despite the strong genotype-phenotype correlation, a significant part of cases remains genetically unresolved.

Cochlear supporting cells require GAS2 for cytoskeletal architecture and hearing.

In mammals, sound is detected by mechanosensory hair cells that are activated in response to vibrations at frequency-dependent positions along the cochlear duct. We demonstrate that inner ear supporting cells provide a structural framework for transmitting sound energy through the cochlear partition. Humans and mice with mutations in GAS2, encoding a cytoskeletal regulatory protein, exhibit hearing loss due to disorganization and destabilization of microtubule bundles in pillar and Deiters' cells, two types of inner ear supporting cells with unique cytoskeletal specializations.

A Novel COCH Mutation Affects the vWFA2 Domain and Leads to a Relatively Mild DFNA9 Phenotype.

Objective: To study the genotype and phenotype of a Dutch family with autosomal dominantly inherited hearing loss.

Study Design: Genotype-phenotype correlation study. Genetic analysis consisted of linkage analysis, variable number of tandem repeats analysis, and Sanger sequencing.

Computational Audiology: New Approaches to Advance Hearing Health Care in the Digital Age.

The global digital transformation enables computational audiology for advanced clinical applications that can reduce the global burden of hearing loss. In this article, we describe emerging hearing-related artificial intelligence applications and argue for their potential to improve access, precision, and efficiency of hearing health care services. Also, we raise awareness of risks that must be addressed to enable a safe digital transformation in audiology.

Costs and effects of conventional vision screening and photoscreening in the Dutch preventive child health care system.

Background: Little is known about costs and effects of vision screening strategies to detect amblyopia. Aim of this study was to compare costs and effects of conventional (optotype) vision screening, photoscreening or a combination in children aged 3-6 years.

Methods: Population-based, cross-sectional study in preventive child health care in The Hague.