Hearing Loss Among Pediatric Patients with Neurofibromatosis Type 1

According to a retrospective review of audiometric data, the rate of hearing loss among patients with neurofibromatosis type 1 (NF1) compared to the general population was higher than expected and audiometric evaluations were recommended for at least a subset of children with NF1.

According to study authors, hearing loss has not historically been considered a common comorbidity of NF1, though it is a known characteristic of NF2-related schwannomatosis. This study was motivated by study authors observing anecdotal incidents of hearing loss among patients with NF1 in clinical practice.

This retrospective review included 1172 patients with NF1 who were seen between 2010 and 2022 at Boston Children’s Hospital, 90 of whom underwent formal audiologic evaluation. Of those 90 patients, 48 (53%) had hearing loss documented on at least 1 audiogram. Study authors extrapolated that a conservative estimate of incidence of hearing loss among patients with NF1 to be 4% (48/1172). There were 30% of patients who underwent hearing evaluation who had conductive hearing loss (CHL), 16% had sensorineural hearing loss (SNHL), and 3% had mixed hearing loss. There was 1 patient for whom the type of hearing loss was not able to be determined. Of the patients with CHL, 9 were determined to have transient CHL secondary to middle ear dysfunction, 4 lacked sufficient data to determine the status, and 6 had permanent CHL secondary to plexiform neurofibroma. Among the patients with CHL, the degree of hearing loss ranged from slight to moderate. Of the patients with either sensorineural or mixed hearing loss, the severity ranged from slight to profound.

Of patients who underwent audiometric evaluation, 8 had plexiform neurofibroma involving the ear, including 6 with CHL as mentioned above. There were 3 patients with plexiform neurofibroma who received targeted therapy, and 1 patient (trametinib) with right conductive hearing loss improved to normal hearing after therapy, when compared to during therapy. The other 2 patients (selumetinib, and trametinib-binimetinib) did not have sufficient audiological data to compare.

The study authors concluded this study “add to the growing evidence suggesting that patients with NF1 are at increased risk of hearing loss above the general population.” They went on to add, “establishing a standard for audiometric evaluation in all children with NF1 would allow the timely identification of educationally and communicatively significant hearing loss. This would, in turn, allow for earlier intervention and management of hearing loss in children with NF1.”

Source:

Yun A, Griffin AM, Kim H-Y, et al. Incidence of hearing loss in patients with neurofibromatosis type 1 at a tertiary care pediatric hospital. Pediatr Neurol. Published Online: July 16, 2024. doi: 10.1016/j.pediatrneurol.2024.07.008