Dornhoffer, James R.

Objective: Characterize pathogenic variants, rates of mosaicism, genetic testing yield, and disease severity among patients with NF2-related schwannomatosis dichotomized by diagnosis before or after the age of 30. Study design: Retrospective analysis. Setting: Tertiary referral center multidisciplinary NF2 clinic from 2021 to 2024. Patients: Patients with NF2-related schwannomatosis. Intervention: Next-generation sequencing. Main outcome measure: Rates of mosaicism, genetic testing rates and yield, and overall disease severity by tumor burden. Results: From 2021 to 2024, there were 32 patients ≥30 years of age and 39 patients diagnosed at younger ages. Patients diagnosed ≥30 years exhibited decreased likelihood of receiving genetic testing (53% vs. 85%; P =0.009) and decreased genetic yield (defined as identification of a pathogenic genetic variant in those undergoing testing; 65% vs. 85%; P =0.20). Both age groups demonstrated similar rates of pathogenic variant type with loss-of-function being the predominant variant detected in 73% vs. 67%, for ≥30 vs. <30 years of age; P =0.90. Those ≥30 years harbored fewer number of average anatomic regions involved by tumor (2.3 vs. 3.4; P <0.001) and decreased total number of tumors (7 vs. 12; P <0.001). Conclusions: Patients diagnosed with NF2-related schwannomatosis at age ≥30 years exhibited reduced disease severity compared with those diagnosed at a younger age despite harboring similar distributions of genetic pathogenic variants inclusive of loss-of-function pathogenic variants. These observations emphasize the importance of considering patient age in addition to genetic testing for diagnostic framing tailored to patients’ biology and clinical context to optimize care in the setting of NF2-related schwannomatosis.

Purpose: An Adult Cochlear Implant Aural Rehabilitation Special Interest Group was formed in 2023. Members represent interdisciplinary collaborators, including audiologists, speech-language pathologists, surgeons, nonclinical administrators, manufacturer/industry representatives, and researchers. Current perspectives of adult cochlear implant (CI) recipients regarding aural rehabilitation (AR) remain unknown and understudied. The aim of this study is to survey adult CI recipients to determine their perspectives on the AR process. Method: A web-based national survey was sent to adult CI recipients through multiple channels. The survey asked recipients about their demographics, state of residence, hearing loss history, and device configuration. Questions probed recipients' experiences of learning about AR options, services used, definitions of AR, and perceived value of services received. Questions were also asked about barriers to AR services, preoperative counseling, and satisfaction with their decision to pursue a CI. Results: A total of 115 CI recipients responded to the survey. Results revealed a relative lack of information provided to many CI recipients regarding AR services. Many CI recipients reported wishing they had received additional resources in the areas of music training and equipment troubleshooting. Most participants reported that both one-on-one clinician-guided AR and independent listening practice were effective methods of AR. Conclusions: Findings shed light on current gaps in providing the most effective AR services, which will need to be addressed to optimize hearing health care and outcomes for adult CI recipients. Future work should include outreach to a broader representation of CI users to expand our understanding of AR resources, education, and limitations.

Objective: Auditory nerve monitoring through electrically evoked compound action potentials (eCAP) can be used to assess cochlear neural integrity during vestibular schwannoma (VS) resection. Herein, we report on 5 cochlear implant (CI) patients who underwent VS resection with present eCAP responses both intraoperatively and postoperatively. Patients either did not perceive any sound through their CI or rapidly adapted to electrical stimulation, suggesting that the presence of eCAP does not guarantee auditory nerve function in patients with VS resection. Patients: Five patients who underwent simultaneous VS translabyrinthine resection and cochlear implantation. Interventions: Simultaneous cochlear implantation and translabyrinthine microsurgical VS resection. Main outcome measure: Electrically evoked compound action potential. Results: All patients had eCAP responses present during their VS resection and for at least 50 days post-surgery. Three of the 5 patients did not perceive any sound with their cochlear implant. This shows that the presence of an eCAP alone does not guarantee a functional auditory nerve or auditory perception. The other 2 patients could hear non-speech sounds, but these sounds quickly became inaudible, indicating that their auditory nerve lacked the ability to integrate the electrical stimulus over time. Conclusions: The presence of an eCAP response does not guarantee auditory sensation through a CI. Although eCAP measurements provide insight into the function of the distal end of the nerve, it does not ascertain integrity or function of the larger auditory nerve pathway. Therefore, eCAPs should not be used in isolation to monitor auditory nerve function during VS resection.

OBJECTIVE The objective of this study was to describe the long-term efficacy of single-fraction stereotactic radiosurgery (SRS) for the primary treatment of sporadic vestibular schwannoma. METHODS Adult (≥ 18 years of age) patients with sporadic vestibular schwannoma who underwent SRS from 2000 through 2022 were included. RESULTS A total of 749 patients met inclusion criteria, the majority (n = 566, 76%) of whom had tumors extending into the cerebellopontine angle at SRS. The median patient age at SRS was 62 years, half (50%) of the patients were women, and 744 (99%) exhibited House-Brackmann grade I facial nerve function at SRS. A total of 42 patients experienced radiosurgical failure and underwent salvage treatment; the median duration of follow-up for the patients who did not undergo salvage treatment was 7.0 years. Overall tumor control rates (95% CI, number still at risk) at 1, 3, 5, 10, and 15 years after SRS were 100% (100%–100%, 718), 98% (97%–99%, 589), 96% (94%–97%, 464), 92% (90%–95%, 258), and 91% (89%–94%, 125), respectively. Patient age (hazard ratio [HR] for a 10-year increase of 0.92, 95% CI 0.71–1.19; p = 0.5), presence of a macrocystic tumor (HR 0.59, 95% CI 0.14–2.46; p = 0.5), and treated tumor volume (HR for a 1-cm 3 increase of 1.02, 95% CI 0.88–1.18; p = 0.8) were not significantly associated with the risk of salvage. Three distinct post-SRS tumor behavior patterns were observed, with 13% of patients demonstrating tumor pseudoprogression, all but 4 of whom demonstrated pseudoprogression by year 5 post-SRS. CONCLUSIONS SRS demonstrates durable tumor control through 15 years of follow-up in most patients (91%); however, a minority are found to still experience SRS failure even beyond 10 years of surveillance. Although occurring in only a minority of patients, tumor pseudoprogression can be evident out to 5 years or longer post-SRS.

OBJECTIVE Wait-and-scan surveillance is now commonly employed for initial management of small- and medium-sized vestibular schwannomas. Although small differences in tumor size are unlikely to impact outcomes significantly, treatment with either radiosurgery or microsurgery is usually recommended following radiological detection of tumor growth. The objective of the current study was to identify potential inflection points in vestibular schwannoma tumor size, where the risks of treatment with single-fraction stereotactic radiosurgery (SRS) accelerate to inform timing of intervention. METHODS Adult (≥ 18 years old) patients with sporadic vestibular schwannoma who underwent SRS from 2000 through 2022 were included. RESULTS A total of 749 patients with a median age at SRS of 62 years were studied, the majority (n = 566 [76%]) of whom had tumors extending into the cerebellopontine angle (CPA) at SRS. The optimal tumor size cut point to predict SRS failure and need for salvage treatment was 4 mm or more of CPA extension (c-index 0.59, HR 3.60, p = 0.01). The optimal tumor size cut point to predict the outcome of facial nerve paresis was 13 mm or more of CPA extension, resulting in a c-index of 0.63 (HR 2.88, p = 0.01). Among patients with at least 3 months of surveillance before SRS, those with a tumor growth rate ≥ 2.5 mm/year were more likely to undergo salvage treatment than those with a growth rate < 2.5 mm/year, although this difference did not achieve statistical significance (HR 1.82, p = 0.18). CONCLUSIONS The risk of SRS failure requiring salvage treatment and the risk of post-SRS facial nerve paralysis increase at sizes of approximately 4 and 13 mm extension into the CPA, respectively, providing a size threshold anchor to help guide treatment decision-making regarding timing of SRS. Furthermore, rapid tumor growth during the initial wait-and-scan period may be associated with an increased risk of radiosurgical failure, which may influence choice of treatment.

Objective: To evaluate the impact of cochlear implantation (CI) and simultaneous endolymphatic sac decompression (ELSD) on vestibular and audiometric outcomes in patients with advanced Ménière disease (MD). Study design: Historical cohort. Setting: Tertiary academic medical center. Patients: Patients with medically refractory MD who underwent CI with or without simultaneous ELSD from 2000 through 2024. Interventions: CI with or without ELSD. Main outcome measures: Post-CI patient-reported changes in vertigo severity and frequency, Consonant-Nucleus-Consonant word (CNCw) scores, and AzBio sentences in quiet scores. Results: Ninety-nine patients with preoperative vertigo secondary to MD were eligible for study, including 17 (17%) who underwent simultaneous ELSD. In total, 15 (88%) and 2 (12%) of the 17 patients with simultaneous ELSD reported improvement and stability in vertigo severity, respectively; in comparison, 26 (32%), 40 (49%), and 16 (20%) of the 82 patients with CI alone reported improvement, stability, and worsening in vertigo severity, respectively ( P <0.001). Likewise, 15 (88%) and 2 (12%) of the patients with simultaneous ELSD reported improvement and stability in vertigo frequency, respectively, whereas 21 (26%), 43 (52%), and 18 (22%) of patients with CI alone reported improvement, stability, and worsening in vertigo frequency, respectively ( P <0.001). Post-CI speech recognition scores were not significantly different between the simultaneous ELSD and CI alone groups [median (IQR) CNCw 70 (38 to 82) vs. 72 (58 to 82) and median (IQR) AzBio quiet 87 (67 to 96) vs. 87 (73 to 94), respectively]. Conclusions: In patients with MD, CI with simultaneous ELSD provides improvement in vertigo symptoms and similar audiometric outcomes when compared with CI alone. In appropriately selected patients with both refractory vestibular symptoms and sensorineural hearing loss meeting criteria for implantation, CI with simultaneous ELSD offers improvement in severity and frequency of vertigo as well as successful auditory rehabilitation.

Abstract Objective Microscopic surgery assessment tools vary in objectivity and requirements for determining surgical proficiency. Artificial intelligence methods for objective microsurgical analysis have become more common, but their applications to mastoidectomy have not been reconciled with earlier efforts. This scoping review aimed to (1) compile and compare objective features and assessment targets of microscopic surgery analysis tools and (2) inform the development of a standardized annotation framework for mastoidectomy. Data Sources Ovid MEDLINE®, Embase (Ovid), Cochrane Central Register of Controlled Trials (CENTRAL, Ovid), Cochrane Database of Systematic Reviews (Ovid), and Scopus. Review Methods A scoping review of English‐language, full‐text articles describing any objective analysis tool for microscopic surgery performed by participants of any level. Extracted data included procedure type, evaluation modality, and classification into five domains: checklist/rating‐based, instrument motion analysis, error identification, workflow modeling, and artificial intelligence‐assisted feedback. Results Of 2203 screened studies, 52 met the inclusion criteria across otolaryngology, ophthalmology, and neurological surgery. Manual assessments (n = 42, 80.8%) primarily used checklists, rating scales, or end‐product evaluations. Automated assessments (n = 10, 19.2%) incorporated motion tracking and artificial intelligence‐assisted feedback. Otolaryngology contributed 28 tools, 22 of which evaluated mastoidectomy, cochlear implantation, or temporal bone dissection. Virtual reality was the most commonly reported training platform (n = 13). Conclusion Although instrument tracking and artificial intelligence‐assisted feedback have been explored, evaluation of microscopic surgery remains largely manual and subjective, with limited adoption of automated assessment tools. The lack of a standardized framework for automated mastoidectomy assessment represents a potential area for future development.

Objective: To systematically review the existent literature on radiosurgery for treatment of sporadic facial nerve schwannomas (FNS). Databases reviewed: PubMed, SCOPUS, EMBASE, and Web of Science databases. Methods: Systematic review was performed per PRISMA criteria of studies published from 1990 through 2024 on patients diagnosed with sporadic FNS who were treated with radiosurgery. Outcomes included change in facial nerve function, change in hearing class, and radiosurgical treatment failure defined by need for reintervention. Study quality was assessed using the LEGENDS rubric for mixed modality studies. Results: In total, 35 studies encompassing 364 patients were included for data abstraction. Gamma Knife was the most common modality reported. Longitudinal patient-level data on facial nerve function were available for 101 patients, with 8% of patients experiencing worsening facial nerve function and 92% of patients having either stable nerve function or improvement in facial nerve function following treatment over a median follow-up of 36 months. Longitudinal patient-level hearing data were available for 53 patients, including 35 patients with serviceable hearing (AAO-HNS class A or B) at baseline; only 2 patients developed nonserviceable hearing (AAO-HNS class C or D) following treatment over a median follow-up of 36 months. Clinical tumor control data were available for 295 patients, of whom 11 required salvage treatment over a mean follow-up of 49 months. Conclusions: This systematic review demonstrates a relatively low risk of worsening facial nerve function and a high rate of clinical tumor control following radiosurgery for sporadic FNS.

AbstractTo review research on the effectiveness of computer-based auditory training (CBAT) in new adult cochlear implant (CI) recipients.Studies by the primary author on auditory training in new adult CI recipients were reviewed, focusing on a database of auditory training data in >100 patients followed over their first-year post-activation.CBAT, as used in a standard outpatient setting, affords benefits compared to other commonly employed exercises/programs. In new adult CI users, CBAT was associated with greater improvement in CNC words, AzBio sentences, and Cochlear Implant Quality of Life-35 (CIQOL-35) Profile scores at 3 months post-activation compared to CI recipients who did not train or used other resources. By 12 months, patients showed similar improvement in speech recognition scores, regardless of training modality; however, patients who used CBAT continued to show significantly greater improvement in CIQOL global and all domain scores compared to CBAT nonusers. This benefit was noted regardless of whether CBAT was started before or after 3 months post-activation. No demographic/lifestyle factors, audiological measures, or pre-CI CIQOL/CIQOL-Expectations scores were associated with CBAT use.CBAT during the first-year post-activation may contribute to early gains in CI speech recognition and to persistent improvements in functional abilities, as measured via the CIQOL-35 profile, in new implant recipients. Consideration of specific recommendations for the use of CBAT resources may be valuable, given the minimal risk, ease of access, and affordability of these programs.

Objectives To compare electrical stimulation and speech perception in vestibular schwannoma (VS) patients across treatment modalities and standard cochlear implant (CI) patients. Study Design Retrospective review. Setting Tertiary academic center. Patients Sixty-seven CI ears consisting of 23 standard CI controls and 44 VS patients with ipsilateral CI. VS patients were separated by treatment modality: 24 microsurgical resection, 15 radiation therapy, and 5 observation. Eleven VS patients with CI did not receive auditory sensation from electrical stimulation. Interventions VS microsurgical resection, radiation therapy, and observation. Main Outcome Measures Threshold (T-levels), comfort (C-levels), consonant-nucleus-consonant (CNC) word score, and AzBio sentence recognition scores. Results Patients who underwent microsurgical resection required significantly higher (p < 0.001) T-levels and C-levels compared with the standard CI group. Stimulation levels in the VS radiation therapy and observation groups were higher but not significantly different compared with standard CI controls. Overall rate of CI nonstimulation across all VS patients was 25%: 38% for microsurgery and 13% for radiation. Average CNC score for microsurgery group was 18% compared with 44% for radiation, 55% for observation, and 68.5% for standard CI controls. CNC word and AzBio scores were significantly lower (p < 0.001) for the microsurgery group compared with standard CI group. Conclusions Resection may negatively affect auditory nerve function, leading to higher stimulation levels, increased risk of nonstimulation, and poorer postoperative CI speech outcomes compared with observation or radiosurgery. When medically appropriate, nonsurgical VS management may be used to allow for optimization of CI programming and postoperative hearing outcomes.