Longitudinal hearing loss in Wolfram syndrome

Abstract

[...]even for this metric and selected subgroup, simulations suggested that at least 55 WFS patients would be needed per group (treatment vs. placebo) to detect a 60% reduction in progression, which may be challenging given the low prevalence of WFS. Because hearing loss can occur very early in WFS, audiologists and otolaryngologists should be aware of this syndrome and refer patients as appropriate for consultation if other WFS-related symptoms emerge. Within our cohort three categories of hearing sensitivity were observed: normal hearing (n = 10), mild-to-severe SNHL (n = 24) and profound SNHL (n = 6). Because no universally accepted classification scheme for hearing loss could be identified, we provided the threshold data for individual participants in Additional file 1: Within the subset of patients with known hearing loss, this estimated average change was slightly larger with 2.37 dB per year for the worse ear, but was still in the subclinical range (Table 4). Since the standard audiometric step size is 5 dB, it may take almost 3 years to observe a clinically significant change in hearing at the group level, although individuals may differ. In concordance with other recent reports, both the presence and onset of the more frequent symptoms of WFS (DM, OA, and SNHL) are quite variable. [...]it is important for health care professionals who examine and diagnose diabetes, hearing loss and visual impairment to consider referral for genetic assessment of WFS when more than one symptom appears and/or family history includes individuals with more than one of the symptoms associated with WFS.