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Progression of hearing loss in neurofibromatosis type 2 according to genetic severity
Author(s) -
Emmanouil Beatrice,
Houston Rory,
May Anne,
Ramsden James D.,
Hanemann C. Oliver,
Halliday Dorothy,
Parry Allyson,
Mackeith Samuel
Publication year - 2019
Publication title -
the laryngoscope
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.181
H-Index - 148
eISSN - 1531-4995
pISSN - 0023-852X
DOI - 10.1002/lary.27586
Subject(s) - medicine , hearing loss , retrospective cohort study , cohort , candidacy , natural history , neurofibromatosis type 2 , audiology , cohort study , neurofibromatosis , pediatrics , pathology , politics , political science , law
Objectives/Hypothesis This study set out to describe the progression of hearing loss in patients with neurofibromatosis type 2 (NF2), treated in a quaternary multidisciplinary clinic. It also aimed to compare hearing loss across patients grouped according to a known genetic severity score to explore its utility for prognostication. Study Design Retrospective cohort study. Methods We conducted a study of 147 patients with confirmed NF2 diagnosis for a mean observational period of 10 years. Pure‐tone average (PTA), optimum discriminations scores (ODS), and genotype data were collected. Patients were classified according to hearing class (American Academy of Otolaryngology), their candidacy for auditory implantation (UK National NF2 consensus) and grouped by genetic severity as: 1 = tissue mosaic, 2A = mild classic, 2B = moderate classic, and 3 = severe. Survival analysis investigated the effect of genetic severity on the age of loss of serviceable hearing. Results Genetic severity was a significant predictor of hearing outcomes such as ODS, hearing classification, and maximum annual PTA deterioration. Although the overall median age of loss of serviceable hearing was 78 years, there was significant variation according to the genetic severity; the median for severe patients was 32 years compared to a median of 80 for tissue mosaic patients. Conclusions This is the first description of long‐term hearing outcomes in a clinical setting across a large heterogeneous cohort of patients with NF2. The results highlight the potential importance and benefit of considering the genetic severity score of patients when undertaking treatment decisions, as well as planning future natural history studies. Level of Evidence 2c Laryngoscope , 129:974–980, 2019