The Conditional Probability of Vestibular Schwannoma Growth at Different Time Points After Initial Stability on an Observational Protocol.

OBJECTIVE: The natural history of vestibular schwannomas (VS) is well documented in the literature, with tumour growth being paramount to decision making for both surveillance and treatment of these patients. Most previous studies refer to the risk of VS growth over a given period of time; however, this is not useful for counselling patients at different stages of their follow-up, as the risk of tumour growth is likely to be less following each subsequent year that a tumour does not grow. Accordingly, we investigated the conditional probability of VS growth at particular time-points, given a patient has not grown thus far. This Bayesian method of risk stratification allows for more tailored and accurate approximations of the risk of growth versus nongrowth of VS. METHODS: Retrospective analysis of a prospectively collected database in a tertiary referral skull base unit, containing all patients diagnosed between 2005 and 2014 with sporadic unilateral VS and a minimum of 5-year surveillance. RESULTS: A total of 341 patients met the inclusion criteria. The mean age at diagnosis was 67 years, the sizes of the VS at diagnosis were intracanalicular in 49%, small in 39%, medium in 11%, and large in 1%. Over the entire 5-year surveillance period, a total of 139 tumours were seen to grow (41%) and 202 did not grow (59%). At 1 year, the probability of growth given that the tumour had not grown to date was seen to be 21%, at 2 years 12%, at 3 years 9%, at 4 years 3%, and at 5 years 2%. The conditional probability of growth of extracanalicular VS was significantly higher in the first year when compared with intracanalicular VS (29% versus 13%, p = 0.01), but there was no such difference in years 2, 3, 4 or 5 (p = 0.60, 0.69, 0.36, 0.39, respectively). CONCLUSION: This is the first study in the literature concerned specifically with the conditional probability of VS growth. The data presented here can be used to better inform VS patients of their risk of growth at particular time points in their disease-the longer VS have been observed to be stable, the lower the risk of subsequent growth in a given year. Further, an extracanalicular vestibular schwannoma is more likely to grow in the first year compared with an intracanalicular vestibular schwannoma. Our data also adds support to surveillance protocols with increasingly infrequent MRI scans, as after 4 years of not growing, the risk of growth in year 5 falls to <2%

Longitudinal evaluation of quality of life in 288 patients with Neurofibromatosis 2

Advances in molecular biology have resulted in novel therapy for neurofibromatosis 2-related (NF2) tumours, highlighting the need for robust outcome measures. The disease-focused NF2 impact on quality of life (NFTI-QOL) patient questionnaire was assessed as an outcome measure for treatment in a multi-centre study. NFTI-QOL was related to clinician-rated severity (ClinSev) and genetic severity (GenSev) over repeated visits. Data were evaluated for 288 NF2 patients (n = 464 visits) attending the English national NF2 clinics from 2010 to 2012. The male-to-female ratio was equal and the mean age was 42.2 (SD 17.8) years. The analysis included NFTI-QOL eight-item score, ClinSev graded as mild, moderate, or severe, and GenSev as a rank order of the number of NF2 mutations (graded as mild, moderate, severe). The mean (SD) 8.7 (5.4) score for NFTI-QOL for either a first visit or all visits 9.2 (5.4) was similar to the published norm of 9.4 (5.5), with no significant relationships with age or gender. NFTI-QOL internal reliability was good, with a Cronbach’s alpha score of 0.85 and test re-test reliability r = 0.84. NFTI related to ClinSev (r = 0.41, p < 0.001; r = 0.46 for all visits), but weakly to GenSev (r = 0.16, p < 0.05; r = 0.15 for all visits). ClinSev related to GenSev (r = 0.41, p < 0.001; r = 0.42 for all visits). NFTI-QOL showed a good reliability and ability to detect significant longitudinal changes in the QOL of individuals. The moderate relationships of NFTI-QOL with clinician- and genetic-rated severity suggest that NFTI-QOL taps into NF2 patient experiences that are not encompassed by ClinSev rating or genotype

Performing MRI Scans on Cochlear Implant and Auditory Brainstem Implant Recipients: Review of 14.5 Years Experience.

OBJECTIVE: To assess the complication rate of magnetic resonance imaging (MRI) using 1.5 T scanners on cochlear implant (CI) and auditory brainstem implant (ABI) recipients over 14.5 years. METHODS: Prospective study conducted in a tertiary referral center for cochlear and auditory brainstem implantation, including patients with neurofibromatosis 2. The primary outcome was complications related to MRI scanning in implant recipients, including failure to complete MRI sessions. The secondary outcome was magnet void size due to MRI scanning with magnet in situ. RESULTS: Ninety-seven patients (21 ABI recipients, 76 CI recipients of whom 23 were bilateral) underwent a total of 428 MRI sessions consisting of 680 MRI procedures, which generated 2,601 MRI sequences (excluding localizers). Of these, 28/428 (6.5%) MRI sessions were performed with magnet removed, and the remaining 400/428 (93.4%) with the magnet in situ. The overall complication rate per session was 15/428 (3.5%). The majority of complications were accounted for by patient discomfort, in some cases requiring abandoning the scan session, but 5 magnet dislocations were also recorded. There were no cases of implant device failure or excessive demagnetization of the receiver stimulator magnet.For CI and ABI recipients, the implant caused large voids of around 110 mm × 60 mm with the magnet in situ which reduced to 60 mm × 30 mm when the magnet was removed. However, it was usually possible to visualize the internal acoustic meatus and cerebellopontine angle by positioning the implant package higher and further forward compared with conventional positioning. CONCLUSION: MRI scanning in ABI and CI recipients is generally safe and well tolerated without magnet removal, and carries a low rate of complications. However, patients should be fully informed of the possibility of discomfort, and precautions such as local anesthetic injection and head bandaging may reduce the likelihood of adverse events

Diagnosis of sporadic neurofibromatosis type 2 in the paediatric population

ObjectiveOnset of symptoms in severe sporadic neurofibromatosis type 2 (NF2) is typically within childhood; however, there is poor awareness of presenting features in young children, potentially resulting in delayed diagnosis and poorer outcome. We have reviewed presentation of sporadic paediatric NF2 to raise awareness of early features, highlighting those requiring further investigation.DesignPatients diagnosed with NF2 at age ≤16 and seen between 2012 and 2015 were notified via the British Paediatric Neurology Surveillance Unit or identified through the English NF2 service.ResultsEpidemiological data estimate that 1 in 110 611 births are affected with childhood-onset NF2. Notes of 32 patients with sporadic NF2 were reviewed. Of those presenting under the age of 5, 89% (17/19) had ocular, 74% (14/19) dermatological and 58% (11/19) neurological signs; in 84% (16/19) features were multisystemic. Sixty-six per cent (21/32) had ≥1 atypical feature, including cerebellar hypoplasia in three cases (9%) and focal cortical dysplasia in five out of seven seizure-related presentations. Five cases presented with a sometimes transient or intermittent cranial nerve mononeuropathy. The mean delay to diagnosis was 3.16 years; in eight cases (25%) this exceeded 6 years. Most significant delay occurred in mononeuropathy, ophthalmological and/or seizure presentations, with a mean delay of 3, 4.5 and 6 years, respectively. Eighty-four per cent (27/32) of cases needed intervention in childhood.ConclusionsAll non-vestibular schwannoma NF2 presentations in childhood had significant diagnostic delay. We emphasise the importance of detailed assessment of skin and eyes in unusual presentations and propose an aide to prompt timely referral to specialist services.</jats:sec