An Analysis of Hearing Outcomes in Children with Hutchinson-Gilford Progeria Syndrome.

Abstract

Aims/Background Few hearing loss studies have been conducted in patients with progeria, and only the possibility of low-frequency conductive hearing loss has been mentioned. The primary objective of this study is to perform a comprehensive analysis of the clinical audiological characteristics of children with Hutchinson-Gilford progeria syndrome (HGPS), and the secondary objective is to analyse the causes of their hearing loss and what can be done to enable them to hear as well as possible. Methods Ten children with HGPS underwent impedance audiometry (tympanogram), otoacoustic emissions, and pure-tone audiometry tests. Otoscopic examination and imaging were also performed in the patients with abnormal hearing. Results Five patients had normal hearing, while the other five had varying degrees of hearing impairment manifesting as mild to moderate low-frequency or full-frequency conductive hearing loss. Otoscopic examination of those patients with abnormal hearing showed a narrowing of the external auditory canal, a thinning of the tympanic membrane, and a distorted cone of light. Further, computed tomography of one patient showed a poorly defined temporal bone morphology with scant pneumatization of the mastoid process. Conclusion Patients with HGPS differ from normally aging individuals with a predominant conductive pattern of hearing loss as opposed to sensorineural deafness, with more lower-frequency hearing impairment due to poor pneumatization of the mastoid process and the possible formation of osteophytes in the temporal bone.