Abstract
PURPOSE: It is essential to investigate the audiological profiles of Williams syndrome in a multicultural context. This study aims to examine the characteristics and management of hearing loss in Chinese children with Williams syndrome and provide references for future clinical management. METHOD: Between January 2007 and March 2022, families with at least 1 WS patient was recruited from the Newborn Cohort Study of Hearing Loss. Audiological tests were performed, and then appropriate medical management was offered. Furthermore, an overview of the hearing loss phenotype in Williams syndrome in different locations was reviewed. RESULTS: A total of two families with at least 1 Williams syndrome patient were recruited from the Newborn Cohort Study of Hearing Loss (ChiCTR2100049765). We identified moderately severe sensorineural or conductive hearing loss that emerged as early as the infancy period in Williams syndrome subjects in Chinese children. Our results extended the reported onset ages of hearing loss in WS from late childhood or early adulthood to the infancy period. We also found that with early diagnosis, proper management, and regular monitoring, children with Williams syndrome could return to a normal or near-normal school life. CONCLUSIONS: Our study demonstrated the distinct hearing profile in Chinese children with Williams syndrome for the first time. This cohort of WS subjects extends the reported onset ages of hearing loss in WS from late childhood or early adulthood to the infancy period, indicating the importance of clinicians screening and monitoring the hearing status of individuals with WS as early as possible. These data provide references for otolaryngologists and paediatricians to inform the clinical understanding and management of hearing loss in Williams syndrome.