Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.

Unraveling the causes and pathomechanisms of progressive disorders is essential for the development of therapeutic strategies. Here, we identified heterozygous pathogenic missense variants of LMX1A in two families of Dutch origin with progressive nonsyndromic hearing impairment (HI), using whole exome sequencing. One variant, c.

Incus necrosis after irradiation.

Objectives: Osteoradionecrosis (ORN) of the temporal bone is a rare, late complication of radiotherapy to the temporal bone region for head and neck or skull base tumours. ORN can occur as a localized or a diffuse type, according to the extension of the affected temporal bone. It can lead to otitis externa, otitis media, aseptic labyrinthitis and may lead to serious intracranial complications.

Cytomegalovirus DNA detection in dried blood spots and perilymphatic fluids from pediatric and adult cochlear implant recipients with prelingual deafness.

Background: Congenital cytomegalovirus (CMV) infection is the leading cause of non-genetic congenital hearing loss. The contribution of congenital CMV to prelingual deafness and the pathophysiology is largely unknown.

Objective: (1) To analyze the prevalence of congenital CMV among cochlear implant (CI) recipients with prelingual deafness.

Speech perception after cochlear implantation in 53 patients with otosclerosis: multicentre results.

Objectives: To analyse the speech perception performance of 53 cochlear implant recipients with otosclerosis and to evaluate which factors influenced patient performance in this group. The factors included disease-related data such as demographics, pre-operative audiological characteristics, the results of CT scanning and device-related factors.

Methods: Data were reviewed on 53 patients with otosclerosis from 4 cochlear implant centres in the United Kingdom and the Netherlands.

Drooling in cerebral palsy: hypersalivation or dysfunctional oral motor control?

Aim: To investigate whether drooling in children with cerebral palsy (CP) in general and in CP subtypes is due to hypersalivation.

Method: Saliva was collected from 61 healthy children (30 males, mean age 9y 5mo [SD 11mo]; 31 females, mean age 9y 6mo [1y 2mo]) and 100 children with CP who drooled (57 males, mean age 9y 5mo [3y 11mo], range 3-19y; 43 females, mean age 10y 1mo [4y 9mo], range 4-19y), of whom 53 had spastic, 42 had dyskinetic, and five had ataxic CP. Almost all children were affected bilaterally, and 90 of them were at Gross Motor Function Classification System levels III or higher.

Cochlear implantation in 3 patients with osteogenesis imperfecta: imaging, surgery and programming issues.

Osteogenesis imperfecta (OI) is a heterogeneous disease of the connective tissue caused by a defective gene that is responsible for the production of collagen type I, leading to defective bone matrix and connective tissue. Hearing loss affects 35-60% of the patients and will progress to deafness in 2-11% of OI patients for whom cochlear implantation may become the only remaining treatment option. Three patients with OI were retrieved from the Nijmegen Cochlear Implant Centre's database.

Cochlear implantation in 53 patients with otosclerosis: demographics, computed tomographic scanning, surgery, and complications.

Objectives: To collect data from a large number of cochlear implant recipients with otosclerosis and to make an assessment of these patients' clinical characteristics, computed tomographic scans, surgical findings, and complications, and to quantify the occurrence of postoperative facial nerve stimulation.

Study Design: Retrospective multicenter study.

Patients: Fifty-three patients with otosclerosis from four cochlear implant centers in the United Kingdom and The Netherlands were reviewed.

Congenital malformation of the inner ear and pediatric cochlear implantation.

Objectives: To study the surgical aspects and performance outcome of cochlear implantation in children with malformed inner ears.

Study Design: Clinical and audiometric evaluation in 13 patients.

Methods: Patient data concerning surgery, postoperative follow-up, and pre- and postimplantation audiometry were obtained from the cochlear implant center's database and evaluated.

Salivation in healthy schoolchildren.

Objective: To obtain reference data on the unstimulated salivary flow rate in healthy 6-11-year-old boys and girls, for use in the treatment of drooling in mentally and physically handicapped children.

Methods: Under standard conditions unstimulated saliva was collected from 62 healthy children using the swab method. Flow rate was determined by calculating the increase in weight of cotton rolls placed in the mouth for 5 min.