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. These outcomes are, however, based on variable follow-up times of, in general, 1 year or less. Therefore, we aimed to 1. evaluate long-term outcomes after CI implantation of speech recognition in quiet in subjects with TMPRSS3-associated SNHL, and 2. test the spiral ganglion hypothesis using the TMPRSS3-group. METHODS: This retrospective, multicentre study evaluated long-term CI performance in a Dutch population with TMPRSS3-associated SNHL. The phoneme scores at 70 dB with CI in the TMPRSS3-group were compared to a control group of fully genotyped cochlear implant users with post-lingual SNHL without genes affecting the SGN, or severe anatomical inner ear malformations. CI-recipients with a phoneme score ≤ 70% at least 1-year post-implantation were considered poor performers and were evaluated in more detail. RESULTS: The TMPRSS3 group consisted of 29 subjects (N = 33 ears), and the control group of 62 subjects (N = 67 ears). For the TMPRSS3-group, we found an average phoneme score of 89% after 5 years, which remained stable up to 10 years post-implantation. At both 5 and 10-year follow-up, no difference was found in speech recognition in quiet between both groups (p = 0.830 and p = 0.987, respectively). Despite these overall adequate CI outcomes, six CI recipients had a phoneme score of ≤ 70% and were considered poor performers. The latter was observed in subjects with residual hearing post-implantation or older age at implantation. CONCLUSION: Subjects with TMPRSS3-associated SNHL have adequate and stable long-term outcomes after cochlear implantation, equal to the performance of genotyped patient with affected genes not expressed in the SGN. These findings are not in line with the spiral ganglion hypothesis. However, more recent studies showed that TMPRSS3 is mainly expressed in the hair cells with only limited SGN expression. Therefore, we cannot confirm nor refute the spiral ganglion hypothesis.

Benefit of sequential bilateral cochlear implantation in children between 5 to 18 years old: A prospective cohort study.

OBJECTIVE: To determine the benefit of sequential cochlear implantation after a long inter-implantation interval in children with bilateral deafness receiving their second implant between 5 and 18 years of age. STUDY DESIGN: Prospective cohort-study. SETTING: Tertiary multicenter. PATIENTS: 85 children with bilateral deafness and unilateral implantation receiving a contralateral cochlear implant at the age of 5 to 18 years. METHOD: The primary outcomes were speech recognition in quiet and noise (CVC) scores. The secondary outcomes were language outcomes and subjective hearing abilities, all measured before and 12 months after sequential bilateral cochlear implantation. Medians of the paired data were compared using the Wilcoxon signed-rank test. Univariable linear regression analyses was used to analyze associations between variables and performance outcomes. RESULTS: A significant benefit was found for speech recognition in quiet (96% [89-98] vs 91% [85-96]; p < 0.01) and noise (65% [57-75] vs 54% [47-71]; p = 0.01) in the bilateral CI condition compared to unilateral (n = 75, excluded 10 non-users). No benefit was seen for language outcomes. The subjective sound quality score was statistically significant higher in bilateral compared to the unilateral CI condition. Pre-operative residual hearing level in the ear of the second implant, the inter-implant interval and age at time of second implantation was not significantly associated with performance scores. CONCLUSION: After 12 months of use, sequential bilateral cochlear implantation showed improved speech perception in quiet and noise and improved subjective sound quality outcomes in children despite a great inter-implantation interval (median of 8 years [range 1-16 years]).

Hearing impairment and ear anomalies in craniofacial microsomia: a systematic review.

The aim of this systematic review was to review the literature on hearing impairment and ear anomalies in patients with craniofacial microsomia and to determine their prevalence. Sixty-two records including 5122 patients were included. Ear anomalies were present in 52-100% of patients. The most reported external ear malformations were microtia, pre-auricular tags, and atresia of the external auditory canal. Ossicular anomalies were the most reported middle ear malformations, whereas the most reported inner ear malformations included oval window anomalies, cochlear anomalies, and anomalies of the semicircular canals. Hearing loss in general was reported in 29-100% of patients, which comprised conductive hearing loss, mixed hearing loss, and sensorineural hearing loss. Between 21% and 51% of patients used hearing aids, and 58% underwent a surgical intervention to improve hearing. The relationship between different phenotypes of craniofacial microsomia and the type and severity of hearing loss is mostly unclear. In conclusion, the high prevalence of ear and hearing anomalies in patients with craniofacial microsomia underlines the importance of audiological screening in order to facilitate individual treatment.

Postoperative surgical site infection in cholesteatoma surgery with and without mastoid obliteration, what can we learn?

INTRODUCTION: This study aims to describe the occurrence of postoperative complications related to cholesteatoma surgery and to determine factors influencing the most common complication, i.e. postoperative surgical site infection (SSI) in cases with and without mastoid obliteration. MATERIALS AND METHODS: Retrospective analyses were performed on surgically treated cholesteatomas in our hospital between 2013 and 2019. Patient characteristics, peri- and postoperative management and complications were reviewed. The cases were divided into two groups based on whether mastoid obliteration was performed or not. RESULTS: A total of 336 cholesteatoma operations were performed, of which 248 cases received mastoid obliteration. In total 21 complications were observed, of which SSI was the most common (15/21). No difference in occurrence of any postoperative complication was seen between the obliteration and no-obliteration group (p = 0.798), especially not in the number of SSI (p = 0.520). Perioperative and/or postoperative prophylactic antibiotics were not associated to the development of an SSI in both groups. In the no-obliteration group a younger age (p = 0.015), as well as primary surgery (p = 0.022) increased the risk for SSI. In the obliteration group the use of bioactive glass (BAG) S53P4 was identified as independent predictor of SSI (p = 0.008, OR 5.940). DISCUSSION: SSI is the most common postoperative complication in cholesteatoma surgery. The causes of SSI are multifactorial, therefore further prospective research is needed to answer which factors can prevent the development of an SSI in cholesteatoma surgery.

Structural brain differences in pre-adolescents who persist in and recover from stuttering.

BACKGROUND: Stuttering is a complex speech fluency disorder occurring in childhood. In young children, stuttering has been associated with speech-related auditory and motor areas of the brain. During transition into adolescence, the majority of children who stutter (75-80%) will experience remission of their symptoms. The current study evaluated brain (micro-)structural differences between pre-adolescents who persisted in stuttering, those who recovered, and fluently speaking controls. METHODS: This study was embedded in the Generation R Study, a population-based cohort in the Netherlands of children followed from pregnancy onwards. Neuroimaging was performed in 2211 children (mean age: 10 years, range 8-12), of whom 20 persisted in and 77 recovered from stuttering. Brain structure (e.g., gray matter) and microstructure (e.g., diffusion tensor imaging) differences between groups were tested using multiple linear regression. RESULTS: Pre-adolescents who persisted in stuttering had marginally lower left superior frontal gray matter volume compared to those with no history of stuttering (ß -1344, 95%CI -2407;-280), and those who recovered (ß -1825, 95%CI -2999;-650). Pre-adolescents who recovered, compared to those with no history of stuttering, had higher mean diffusivity in the forceps major (ß 0.002, 95%CI 0.001;0.004), bilateral superior longitudinal fasciculi (ß 0.001, 95%CI 0.000;0.001), left corticospinal tract (ß 0.003, 95%CI 0.002;0.004), and right inferior longitudinal fasciculus (ß 0.001, 95%CI 0.000;0.001). CONCLUSION: Findings suggest that relatively small difference in prefrontal gray matter volume is associated with persistent stuttering, and alterations in white matter tracts are apparent in individuals who recovered. The findings further strengthen the potential relevance of brain (micro-)structure in persistence and recovery from stuttering in pre-adolescents.

Post-extubation stridor after prolonged intubation in the pediatric intensive care unit (PICU): a prospective observational cohort study.

PURPOSE: Prolonged endotracheal intubation may lead to laryngeal damage, with stridor being the most relevant clinical symptom. Our objective was to determine the incidence of post-extubation stridor and their clinical consequences in children within a tertiary referral center and to identify contributing factors. METHODS: 150 children, aged 0-16 years, intubated for more than 24 h were prospectively enrolled until discharge of the hospital. Potential relevant factors, thought to mediate the risk of laryngeal damage, were recorded and analyzed. RESULTS: The median duration of intubation was 4 days, ranging from 1 to 31 days. Stridor following extubation occurred in 28 patients (18.7%); 3 of them required reintubation due to respiratory distress and in 1 child stridor persisted for which a surgical intervention was necessary. In multivariate analyses, we found the following independent predictors of stridor: intubation on the scene, the use of cuffed tubes and lower age. CONCLUSION: Despite a high incidence for post-extubation stridor, only few children need reintubation or surgical intervention as a result of post-extubation lesions. Intubation on the scene, the use of cuffed tubes and young age are associated with a significant increased risk of post-extubation stridor. Awareness of these factors gives the possibility to anticipate on the situation and to minimize laryngeal injury and its possible future consequences.

A Retrospective Analysis and Comparison of the STAM and STAMCO Classification and EAONO/JOS Cholesteatoma Staging System in Predicting Surgical Treatment Outcomes of Middle Ear Cholesteatoma.

OBJECTIVE: To evaluate and compare the STAM classification, STAMCO classification and the EAONO/JOS staging system as predictors for cholesteatoma recidivism and postoperative hearing, using a large patient cohort in our tertiary referral center. METHOD: Two hundred thirty-one patients who underwent surgery for primary cholesteatoma between 2003 and December 2012 were included and retrospectively classified and staged according to the STAM classification, STAMCO classification, and EAONO/JOS staging system. Data on cholesteatoma recidivism rates and postoperative hearing were collected. The predictive value of the three instruments for recurrent and residual cholesteatoma was compared by using receiver operating characteristic curves. RESULTS: For predicting recurrent cholesteatoma, the STAMCO classification was significantly superior compared to the other two instruments. For predicting residual cholesteatoma, the STAMCO classification was superior to the EANO/JOS Staging system. The postoperative hearing shows a significant increase in ABG with increasing extension of cholesteatoma in the CWU group and a significant decrease in AC threshold level with increasing stage and a significant increase in AC with increasing ossicular chain status in the CWD group. CONCLUSION: Based on our study, the STAMCO classification represents the best available predictor for recurrent cholesteatoma and holds most promise for predicting residual cholesteatoma. Extension of cholesteatoma seems to be linked to postoperative hearing and thus the classifications and staging systems may be able to predict postoperative hearing. More studies are needed to assess the validation of these classifications.

Stuttering and gray matter morphometry: A population-based neuroimaging study in young children.

Stuttering is a developmental speech disorder originating in early childhood. We aimed to replicate the association of stuttering and structural morphometry using a large, population-based prospective cohort, the Generation R Study, and explore the neurobiological mechanism of stuttering in children. Twenty-six children with a history of stuttering and 489 fluent speaking peers (ages 6-9) were included in the MRI sub-study. Cortical and subcortical regions of interest were analyzed using linear regression models. Compared to fluent speakers, children with a history of stuttering had less gray matter volume in the left inferior frontal gyrus and supplementary motor area. Exploratory surface-based brain analysis showed thinner cortex in the left inferior frontal gyrus, and in bilateral frontal and parietal areas. These findings corroborate previous studies that reported aberrant brain morphometry in speech motor and auditory regions in children who stutter. Future research is needed to explore the causal nature of this association.

Obstructive sleep apnoea in craniofacial microsomia: analysis of 755 patients.

A retrospective cohort study was set up to analyse the prevalence and treatment of obstructive sleep apnoea (OSA) in relation to the severity of the deformity in patients with craniofacial microsomia (CFM). This study included a population of 755 patients with CFM from three craniofacial centres. Medical charts were reviewed for severity of the deformity, types of breathing difficulty, age at which breathing difficulty first presented, treatment for OSA, and treatment outcome. In total, 133 patients (17.6%) were diagnosed with OSA. Patients with Pruzansky IIB/III classification or bilateral craniofacial microsomia were significantly more often diagnosed with OSA than unilaterally affected patients of Pruzansky I/IIA classification. The initial treatment of OSA consisted of adenotonsillectomy, tracheotomy, or non-invasive positive pressure ventilation. Thirty-seven patients received more than one treatment (range 1-3). In this study, the prevalence of OSA in patients with CFM was higher than the prevalence in the healthy population described in the literature. Although several treatment modalities are available for the treatment of OSA in patients with CFM, treatment should be individualized and based on clinical symptoms, the severity of the deformity, and comorbidities.

Feeding difficulties in craniofacial microsomia: a systematic review.

Patients with craniofacial microsomia are at higher risk of developing obstructive sleep apnoea (OSA), as described in the previous article entitled "Obstructive sleep apnoea in craniofacial microsomia: a systematic review". These patients are also more likely to develop feeding difficulties. The present systematic review provides an overview of the literature on the prevalence, treatment, and follow-up of feeding difficulties in children with craniofacial microsomia (CFM). A search was performed in PubMed, Embase, Cochrane Library, and Web of Science for articles on CFM and feeding difficulties. The following data were extracted from the articles: number of patients, patient characteristics, presence of feeding difficulties, and the treatment and outcomes of feeding difficulties. Eight articles on CFM and feeding difficulties were included, two of which reported the prevalence of feeding difficulties (range 42-83%). Treatment mostly consisted of tube feeding. No information regarding follow-up was found in these articles. According to the literature, feeding difficulties are related to CFM. However, as there have been no prospective studies and few studies have presented objective measurements, no definitive conclusions can be drawn. Prospective studies are needed to determine the prevalence of feeding difficulties in patients with CFM.

Obstructive sleep apnoea in craniofacial microsomia: a systematic review.

Children with craniofacial microsomia (CFM) are at risk of obstructive sleep apnoea (OSA). This systematic review provides an overview of the literature on the prevalence of OSA in children with CFM. A search was performed in PubMed, Embase, Cochrane Library, and Web of Science for articles on CFM and OSA. The following data were extracted from the articles: number of patients, patient characteristics, presence of OSA, polysomnography outcomes, and the treatments and outcomes of OSA. We included 16 articles on CFM and OSA, four of which reported the prevalence of OSA (range 7-67%). Surgical treatment was more often described in these patients than conservative treatment. According to the literature, OSA is related to CFM. However, as there have been no prospective studies and few studies have presented objective measurements, no definitive conclusions can be drawn. Prospective studies are needed to determine the prevalence of OSA in patients with CFM.

Characteristics and surgical outcome of 98 infants and children surgically treated for a laryngotracheal stenosis after endotracheal intubation: excellent outcome for higher grades of stenosis after SS-LTR.

INTRODUCTION: To describe the characteristics and surgical outcome of 98 infants and children treated for an acquired laryngeal stenosis after intubation for respiratory support. MATERIAL AND METHODS: We retrospectively reviewed our data from the last 18 years (1994-2013) concerning infants and children with an acquired laryngotracheal stenosis who were treated in our hospital with a laryngotracheal reconstruction or a cricotracheal resection. Outcome was defined by decannulation ratio. RESULTS: Of the 98 infants and children who were studied, 54% were preterm, 18% neonates, 13% infants and 14% children. Ninety-one SS-LTR's, two DS-LTR's and five CTR's were performed as primary surgery; three revision operations were performed (DS-LTR). Seventy-seven children had a tracheostomy prior to surgery; decannulation ratio was 93% after primary surgery and 95% after inclusion of revision surgery. For SS-LTR, the decannulation ratio was 93%, including grade III stenosis with comorbidities. Male sex and glottic involvement of the stenosis are correlated to failure of decannulation. Intubation in the term neonatal period is correlated to complicated post-operative course after SS-LTR. CONCLUSIONS: Excellent results of surgery for acquired laryngotracheal stenosis can be obtained with a high decannulation rate. Even for higher grades of stenosis with comorbidities and glottic involvement, an SS-LTR is an effective surgical treatment for acquired laryngeal stenosis.

Case-report: metastasizing pleomorphic adenoma of the parotid gland.

CASE-REPORT: Metastasizing pleomorphic adenoma of the parotid gland. We present a case of metastasizing pleomorphic adenoma (MPA). The patient died in 2002 at the age of 64 years, following on an initial diagnosis of a pleomorphic adenoma of the right parotid gland at the age of nineteen, multiple local recurrences and finally rib metastases. Histological examination of the excised tissue from the parotid gland and the metastases showed it to be a pleomorphic adenoma without any signs of malignancy, although the metastatic deposits consisted mostly of a myoepithelial component. Both in our case as in most of the literature, MPA follows a probable incomplete removal of the first tumour. We conclude that the first operation is of great importance for the prevention of late recurrences and metastatic spread.