Assessment of hearing loss by pure-tone audiometry in patients with mucopolysaccharidoses.

ABSTRACT

BACKGROUND: Patients with mucopolysaccharidoses (MPS) often have hearing loss. However, the characterization of hearing loss by pure-tone audiometry (PTA) in this rare disease population and its relationship to age and treatment is limited. METHODS: PTA was performed in 39 patients with MPS (29 males and 10 females; 3 with MPS I, 21 with MPS II, 9 with MPS IVA, and 6 with MPS VI; median age, 11.9 years; age range, 4.4-34.2 years). The degree of hearing loss was classified by the age-independent World Health Organization (WHO) clinical guidelines. RESULTS: Hearing loss by PTA was present in 85% (33/39) of patients and was categorized as mild (26-40 dB) in 18%, moderate (41-60 dB) in 36%, severe (61-80 dB) in 23%, and profound (≥81dB) in 5%. Among the patients with hearing loss, 33% were classified as mixed type (conductive and sensorineural), 30% as pure conductive type, 27% as pure sensorineural type, and 9% were undefined. The means of the right and left ear hearing thresholds at 2000 and 4000 Hz by air conduction (AC) and at 500, 1000, 2000, and 4000 Hz by bone conduction (BC) were all positively correlated with age (p<0.05). In the 6 patients with MPS II or VI who underwent follow-up PTA after ventilation tube insertion and enzyme replacement therapy for 1.9 to 8.5 years, all showed improvements in AC and BC of the better ear, as well as in the air-bone gap. CONCLUSIONS: Hearing impairment is common in MPS. Early otolaryngological evaluation and intervention are recommended. These findings and the follow-up data can be used to develop quality of care strategies for patients with MPS.