Molecular genetics and metabolism · 2026
Natural history of hearing loss in adults with mucopolysaccharidoses across phenotype and genotype.
СтатьяНазвание и аннотация: Перевод в очереди
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McCarron Eamon P, Stepien Karolina M, Summerfield Neil, Sharma Reena, Jovanovic Ana, Gossan Nicole, Burkitt-Wright Emma, Gadepalli Chaitanya
Аннотация
BACKGROUND: Hearing loss is a recognised complication of mucopolysaccharidoses (MPS), but adult-specific data on long-term auditory outcomes remain limited. We aimed to characterise the adult natural history of hearing loss across MPS subtypes, including prevalence, severity, and longitudinal trajectory, and to explore associations with phenotype, genotype, and treatment exposure.
METHODS: This retrospective study analysed clinical and audiological data from adults with confirmed MPS at a tertiary metabolic centre. Hearing loss was classified using standard thresholds. Cross-sectional analyses used the most recent audiogram, and longitudinal analyses compared earliest and most recent assessments. Associations with clinical and molecular variables were explored using non-parametric methods.
RESULTS: Among 122 adults, 111 (90.9%) had recent audiological data. Hearing loss was present in 65.7%, predominantly sensorineural (51.4%). Severity varied significantly by subtype (p < 0.001), with greater impairment in MPS II and MPS IVA. Fifty-six patients had paired assessments over a median follow-up of 18 years. Although 14.3% showed worsening by ≥1 severity category, there was no evidence of systematic progression across the cohort. Hearing trajectories were similar irrespective of enzyme replacement therapy or haematopoietic stem cell transplantation.
CONCLUSIONS: In the largest known adult cohort, hearing loss in MPS is common, subtype-specific, and predominantly sensorineural. Adults with MPS II and short-stature MPS IV are more severely affected. Hearing loss appears stable once established, suggesting a plateau in adulthood. Current therapies do not appear to modify adult auditory outcomes, underscoring the need for early intervention and lifelong audiological surveillance.
METHODS: This retrospective study analysed clinical and audiological data from adults with confirmed MPS at a tertiary metabolic centre. Hearing loss was classified using standard thresholds. Cross-sectional analyses used the most recent audiogram, and longitudinal analyses compared earliest and most recent assessments. Associations with clinical and molecular variables were explored using non-parametric methods.
RESULTS: Among 122 adults, 111 (90.9%) had recent audiological data. Hearing loss was present in 65.7%, predominantly sensorineural (51.4%). Severity varied significantly by subtype (p < 0.001), with greater impairment in MPS II and MPS IVA. Fifty-six patients had paired assessments over a median follow-up of 18 years. Although 14.3% showed worsening by ≥1 severity category, there was no evidence of systematic progression across the cohort. Hearing trajectories were similar irrespective of enzyme replacement therapy or haematopoietic stem cell transplantation.
CONCLUSIONS: In the largest known adult cohort, hearing loss in MPS is common, subtype-specific, and predominantly sensorineural. Adults with MPS II and short-stature MPS IV are more severely affected. Hearing loss appears stable once established, suggesting a plateau in adulthood. Current therapies do not appear to modify adult auditory outcomes, underscoring the need for early intervention and lifelong audiological surveillance.