Neurofibromatosis Type 2 Outcome
Patients with NF2 develop bilateral vestibular schwannomas with progressive hearing loss.
Risk factors of progressive disability include younger age of onset, positive family history, positive treatment history, and specific neurological deficits 1).
In Guy's and St. Thomas' NHS Trust, London, UK NF2 patients undergo annual MRI brain and internal auditory meatus imaging. They noted incidental intracranial aneurysms in some patients and sought to determine the prevalence of intracranial aneurysms in there cohort of NF2 patients. They conducted a retrospective audit of the MRI images of 104 NF2 patients from 2014 to 2016. Axial T2 brain MRI images were assessed for vascular abnormalities by two neuroradiologists blinded to patient's clinical details. Intracranial aneurysms were detected in four patients and an aneurysm clip related to previous surgery was noted in one additional patient. Using standard MRI imaging sequences alone we provide evidence of intracranial aneurysms in 4.4% of our cohort. This compares with an estimated overall prevalence of 3% in the general population. We discuss these findings as well as other evidence for a vasculopathy associated with NF2 2).
Quality of life
Neurofibromatosis type 2 (NF2) is a rare genetic disease that causes a wide range of disabilities leading to compromised quality of life (QOL). There is a clear need for a validated disease-specific tool to assess the quality of life among German-speaking patients with neurofibromatosis type 2 (NF2). The NFTI-QOL questionnaire has produced useful results in English-speaking cohorts. The aim of the study of Lawson McLean et al was to produce and validate a German version of the NFTI-QOL (NFTI-QOL-D) and to correlate QOL scores with a depression score (PHQ-9) and clinical disease severity.
The original English-language NFTI-QOL was translated into German and then back-translated in order to preserve the questionnaire's original concepts and intentions. A link to an online survey encompassing the NFTI-QOL-D and the PHQ-9 depression questionnaire was then sent to 97 patients with NF2 by email. The respondents' scores were compared to clinician-reported disease severity scores.
77 patients completed the online survey in full. Internal reliability among NFTI-QOL-D responses was strong (Cronbach's alpha: 0.74). Both PHQ-9 and clinician disease severity scores correlated with NFTI-QOL-D scores (Pearson's rho 0.63 and 0.62, respectively).
The NFTI-QOL-D is a reliable and useful tool to assess patient-reported QOL in German-speaking patients with NF2. The correlation of QOL with both psychological and physical disease parameters underlines the importance of individualized interdisciplinary patient care for NF2 patients, with attention paid to mental well-being as well as to somatic disease manifestations 3).