gms | German Medical Science

Age-related hearing loss (ARHL) presents a significant public health challenge, affecting quality of life and generating substantial societal costs. Early intervention is essential to mitigate progression and reduce the risk of associated cognitive decline.

The PRESAGE (PREciSion audiology for AGE-related hearing loss) project aims to improve the understanding of ARHL’s complex pathophysiology, sensory and neural mechanisms, and perceptual consequences by taking a comprehensive study approach. It investigates genotype-phenotype relationships in early onset ARHL (uARHL) to establish a precise diagnostic strategy.

Data is collected from approximately 300 uARHL individuals aged 40 and over and 80 age-matched controls with age-appropriate hearing at two sites: Oldenburg and Paris. Phenotyping involves broad clinically applicable audiological tests assessing detection, speech recognition, electrophysiology, and vestibular functions, while genotyping is conducted in collaboration with the Institut de l'Audition in Paris. Combining genetic mapping and audiological phenotyping provides a unique opportunity to establish a direct causal relationship between hearing loss causing pathogenic variants and their phenotypic consequences. Here we present first insights into phenotype data.

Preliminary results show complex interactions between psychoacoustic measures, age, pure-tone audiometry (PTA), and group differences. Masking release for speech in fluctuating noise is reduced in the uARHL group compared to controls, moderated by age and PTA. Similarly, tone-in-noise detection thresholds are poorer in the uARHL group, especially at higher tone frequencies, interacting with age and PTA. Loudness scaling function slopes are steeper in uARHL individuals, correlating moderately with age and PTA. These findings emphasise the importance of suprathreshold aspects beyond conventional audibility in understanding ARHL pathophysiology. PRESAGE's approach could facilitate the development of precise diagnostic and profiling strategies, thereby aiding in efforts addressing ARHL global burden.