Ruth Lang-Roth

Risk Factors for Auditory Neuropathy/Auditory Synaptopathy

Aims: It was the aim of this study to describe risk factors in auditory neuropathy/auditory synaptopathy (AN/AS). Methods: Between 1997 and 2005, we diagnosed 37 children with AN/AS. They underwent a critical chart review for risk factors and etiological coincidences in this idiosyncratic disorder. Results: Eighteen neonates had a history of prematurity and low birth weight. Hyperbilirubinaemia was present in 13 children. Three patients had evidence of infection during pregnancy, and AN/AS was associated with complex syndromal diseases in 2 cases. A congenital, familial pattern was seen in 2 siblings. Seven patients had idiopathic AN/AS. Conclusion: Rather than being a single etiological entity, AN/AS comprises a spectrum of risk factors and associated problems affecting the cochlea and the auditory pathway. This study shows that the majority of AN/AS in children is the result of perinatal problems and is not genetic in origin. Hyperbilirubinaemia is a common and etiologically significant finding in infants suffering from AN/AS. Thus, early hearing screening for AN/AS including transient evoked otoacoustic emissions and auditory brainstem response assessment among neonates with risk factors for AN/AS is crucial in order to better manage patients suffering from this disorder.

Diagnostik und Therapie der auditorischen Synaptopathie/Neuropathie

ZusammenfassungDie audiologische Konstellation von pathologischen frühen akustisch evozierten Potenzialen (fehlend, erhöhte Schwelle und gestörte Kurvenform) trotz nachweisbarer otoakustischer Emissionen geht häufig mit einer von schlechtem Sprachverständnis geprägten Schwerhörigkeit bzw. mit Taubheit einher. Diese als auditorische Neuropathie erstbeschriebene, heterogene Erkrankungsgruppe beinhaltet peripher-auditorische Störungen der synaptischen Schallkodierung durch innere Haarzellen (Synaptopathie) und/oder der Erregungsbildung und -weiterleitung im Hörnerv (Neuropathie). Dieses Konsensuspapier gibt aktuelle Hintergrundinformationen sowie Empfehlungen zur Diagnostik und Therapie im deutschsprachigen Raum. Es nimmt dabei Bezug auf aktuelle internationale Statements.AbstractPathological auditory brainstem responses (lack of responses, elevated thresholds and perturbed waveforms) in combination with present otoacoustic emissions are typical audiometric findings in patients with a hearing impairment that particularly affects speech comprehension or complete deafness. This heterogenous group of disorders first described as “auditory neuropathy” includes dysfunction of peripheral synaptic coding of sound by inner hair cells (synaptopathy) and/or of the generation and propagation of action potentials in the auditory nerve (neuropathy). This joint statement provides prevailing background information as well as recommendations on diagnosis and treatment. The statement focuses on the handling in the german language area but also refers to current international statements.

High Rate of Symptomatic Cytomegalovirus Infection in Extremely Low Gestational Age Preterm Infants of 22-24 Weeks' Gestation after Transmission via Breast Milk

Background: Very immature preterm infants are at risk of developing symptomatic or severe infection if cytomegalovirus is transmitted via breast milk. It is still a matter of debate whether human cytomegalovirus (HCMV) infection may lead to long-term sequelae. Objectives: We hypothesized that symptomatic and severe HCMV infection transmitted via breast milk affects extremely immature infants at a very high rate. Methods: In 2012, untreated breast milk was fed to extremely low birth weight infants after parental informed consent was obtained. We retrospectively analyzed data on HCMV infection of infants born in 2012 between 22 and 24 weeks of gestation. Results: 17 infants were born to HCMV IgG-seropositive mothers. 11 (65%) of these were diagnosed with symptomatic infection. In all cases, thrombocytopenia was the reason to analyze the infants urine. HCMV infection was diagnosed at a median time of 12 weeks after birth. In 5 (45%) infants, thrombocytopenia was the only symptom and resolved without antiviral therapy or platelet transfusion. 6 (55%) infants developed sepsis-like disease with mildly elevated CRP values and showed signs of respiratory failure. 3 (27%) were able to be stabilized on CPAP, 3 (27%) had to be intubated and mechanically ventilated. 4 children were treated with ganciclovir and/or valganciclovir. 55% failed otoacoustic emissions and/or automated auditory brainstem response testing at discharge. Conclusions: In very immature infants born at the border of viability and suffering from multiple preexisting problems, HCMV infection may trigger a severe deterioration of the clinical course.

Young age is a positive prognostic factor for residual hearing preservation in conventional cochlear implantation.

Objective To investigate the prognostic significance of various factors in hearing preservation after traditional cochlear implantation (CI). Study design Retrospective case review. Setting Academic tertiary referral center. Patients A total of 153 implantations with mean patient age at implantation of 36 years (from 10 mo to 83 yr) and residual hearing at the frequencies 250, 500, and 1,000 Hz on the unaided preoperative pure-tone audiometry were included. Intervention(s) CI with a conventional full-length electrode. Main outcome measure(s) The changes on the residual hearing 3 months after implantation were analyzed regarding patients’ demographic factors, shape of the preoperative threshold curve, type of the electrode carrier, and approach of electrode insertion in the cochlea. Preservation of residual hearing was defined as measurable postoperative threshold at the frequencies 250, 500, and 1,000 Hz. Results Preservation of residual hearing was observed in almost half of the cases (47%). In more than half of these patients (54%), a maximal to complete hearing preservation (0–10 dB loss) was achieved. About one-third of these implantations (29%) showed a moderate preservation of residual hearing (11–20 dB loss). In the remaining 17%, the preservation of hearing was marginal (>21 dB loss). Hearing preservation and its extent were significantly better in children and adolescents compared with those in adults. Conclusion The preservation of residual hearing after conventional CI is possible. Young age seems to have a positive impact on hearing preservation.

Postural control before and after cochlear implantation: Standard cochleostomy versus round window approach

Conclusion: The approach to the cochlea did not influence postural control after cochlear implantation (CI) surgery. Most patients already have impaired vestibular function before surgery. These balance deficits did not change after CI surgery in the majority of patients but static balance might be improved by CI surgery. Objectives: To determine whether the technique used to insert the CI electrode has an influence on vestibular function. Methods: Static and dynamic postural control and caloric vestibular function were measured prospectively before and after CI surgery in 36 CI patients with standard cochleostomy (SC) insertion and 16 patients with insertion across the round window (RW). The test battery consisted of the modified clinical test of sensory interaction on balance (mCTSIB), the Rhythmic Weight Shift (RWS), the Walk Across (WA), and the Tandem Walk (TW) test. Results: Caloric testing was normal in the majority of CI candidates and remained normal after surgery. mCTSIB results were not significantly different before and after CI surgery between the SC and RW groups. Within both subgroups, the mCTSIB composite value improved within 6 weeks after surgery compared with the values obtained before surgery. Dynamic standing balance showed no postoperative change in RWS.

Voice and respiratory outcomes after permanent transoral surgery of bilateral vocal fold paralysis.

Bilateral vocal fold paralysis (BVFP) is a rare but life‐threatening condition mostly caused by iatrogenic damage to the peripheral recurrent laryngeal nerve. Endoscopic enlargement techniques have been the standard treatment for decades. However, prospective studies using internationally accepted phoniatric and respiratory evaluation guidelines are rare.

Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1)

In about 20% of non‐syndromic hearing loss (NSHL) cases, inheritance is autosomal dominant (ADNSHL). DIAPH1 mutations define the ADNSHL locus DFNA1. We identified two new families with heterozygous truncating DIAPH1 mutations (p.Ala1210Serfs*31 and p.Arg1213*). In contrast to the extensively studied original DFNA1 family, hearing loss was not confined to low frequencies, but congenital manifestation and rapid progression were confirmed. In line with a recent unrelated study, we identified an association with thrombocytopenia, reclassifying DFNA1 as a syndrome. Consequently, we suggest to include the blood count into the initial clinical workup of patients with autosomal dominant hearing loss to guide the genetic diagnosis. We provide the first data on DIAPH1 expression in the organ of Corti, where it localizes to the inner pillar cells, at the base of the outer hair cells. Homozygous truncating DIAPH1 mutations located N‐terminally to the DFNA1 mutations have recently been identified in autosomal recessive microcephaly. It is therefore noteworthy that we found DIAPH1 expression also in spiral ganglion neurons and in the barrier between the myelinating glia of the peripheral nervous system and oligodendrocytes that form the myelinating glia of the central nervous system (CNS).

Permanent transoral surgery of bilateral vocal fold paralysis: A prospective multi‐center trial

To describe postoperative adverse events (AEs) and outcomes after transoral surgery for bilateral vocal fold paralysis (BVFP).

Electrocochleography in children with auditory synaptopathy/neuropathy: Diagnostic findings and characteristic parameters

INTRODUCTION The early diagnosis of AS/AN in children remains challenging because it exclusively relies on the detection of OAE and/or CM, while ABR are pathologically changed or missing. The aim of our study was to ensure the diagnosis of AS/AN, demarcate it to an outer hair cell damage and possibly differentiate between pre- and postsynaptic pathologies. METHODS We retrospectively evaluated the transtympanic ECochG results of ten children with AS/AN and compared them to a matched group with SNHL and without any signs of AS/AN. We analyzed the thresholds, latencies and - as a new parameter - the amplitude ratio between CAP and SP. RESULTS CM and SP thresholds were significantly lower than CAP thresholds in AS/AN patients and significantly lower than SP and CM thresholds in SNHL patients with comparable CAP thresholds. The CAP/SP ratio of amplitudes in SNHL children was more than three times (significantly) higher than in AS/AN children. The cutoff value was set at 1.0 in order to differentiate between both groups with a 80-90% sensitivity and specificity. It was not possible to differentiate between a pre- and postsynaptic type of AS/AN in our collective. SUMMARY AND CONCLUSION The ECochG can add valuable information for a precise differential diagnosis of AS/AN, especially in babyhood. We identified the CAP/SP ratio as a new parameter for differentiation between AS/AN and SNHL. When the CAP/SP ratio falls below 1.0, patients can be diagnosed AS/AN with high specificity and sensitivity. Significantly smaller SPL are needed to evoke SP and CM in the AS/AN group, thus showing the preserved hair cell function.

Real-World Verbal Communication Performance of Children Provided With Cochlear Implants or Hearing Aids.

Objective To compare the real-world verbal communication performance of children provided with cochlear implants (CIs) with their peers with hearing aids (HAs). Study Design Cross-sectional study in university tertiary referral centers and at hearing aid dispensers. Methods Verbal communication performance was assessed by the Functioning after Pediatric Cochlear Implantation (FAPCI) instrument. The FAPCI was administered to 38 parents of children using CIs and 62 parents of children with HAs. According to the WHO classification, children with HAs were categorized into three groups (mild–moderate–severe hearing loss). Analysis of variance (ANOVA) was performed on the FAPCI scores, with study group, hearing age (i.e., device experience), and age at hearing intervention as sources of variation. Results ANOVA showed that hearing age and study group significantly contribute to the FAPCI outcome. In all study groups except the children with mild hearing loss, FAPCI scores increased alongside growing experience with the devices. Children with mild hearing loss using HAs showed higher scores than those with severe hearing loss or implanted children. There were no significant differences between the children with CIs and the children with moderate or severe hearing loss using HAs. Conclusion Real-world verbal communication abilities of children with CIs are similar to those of children with moderate-to-severe hearing loss using amplification. Because hearing age significantly influences performance, children with moderate-to-severe hearing loss using HAs and implanted children catch up with children with mild hearing loss at a hearing age of approximately 3 years.