To characterize the auditory manifestations of patients diagnosed with Pelizaeus-Merzbacher Disease (PMD), a rare X-linked disorder of myelin classically characterized by nystagmus, spastic quadriparesis, ataxia, and cognitive delay in early childhood or progressive disease in adulthood. A prospective case study of 5 pediatric and 3 adult patients diagnosed with PMD who demonstrate varying degrees of abnormal auditory function. These patients underwent comprehensive audiological evaluations (audiometry, tympanometry, otoacoustic emissions), auditory processing tests (Dichotic Listening, Frequency Pattern Test, Duration Pattern Test), and electrophysiological measures (Auditory Brainstem Response). Abnormal electrophysiological findings with normal cochlear function were found in all test subjects. Further testing completed on adult subjects revealed further central auditory dysfunction via auditory processing tests. All the adult test subjects had abnormal results on auditory processing tests including significant left ear deficits on dichotic digits and poor duration pattern test scores. Auditory processing test results indicated strong right ear advantages for all adult PMD test subjects in Dichotic Digit testing. The degree of audiological central dysfunction findings was more severe in subjects with greater symptoms of the disease. Our findings indicate the need for a full audiological test battery on all patients with Pelizaeus-Merzbacher disease and other severe neurological disorders.
Keywords: Ataxia; Children; Nystagmus; Pelizaeus-Merzbacher disease; Spastic quadriparesis.