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.

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.

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.

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.

To investigate the perinatal risk factors for conductive hearing loss (CHL) in infancy and develop an initial prediction model to facilitate accurate diagnosis and early detection of CHL.

This retrospective study utilized data from the Newborn Cohort Study of Hearing Loss (ChiCTR2100049765). Infants who underwent diagnostic audiological assessments at our hospital between January 2003 and June 2024 were included. Data analysis was conducted using R (version 4.4.1) to construct an initial prediction model for CHL in infancy, applying the LASSO regression technique.

A total of 661 infants (1322 ears) were included, with 1253 ears in the normal hearing group and 69 ears in the CHL group. Statistically significant differences were observed between the groups in the following factors: parent-reported infant response to sound, craniofacial deformities, neonatal hemolysis, jaundice treatment, and neonatal hypoglycemia. A multivariate prediction model and nomogram for CHL in infancy were developed and validated, achieving an accuracy of 92.5% and a specificity of 91.3%.

This study identified key risk factors for CHL in infancy and developed a preliminary predictive model, improving the diagnostic accuracy for CHL. Improved diagnostic precision can decrease misdiagnoses, reduce delays in treatment, and limit unnecessary antimicrobial prescriptions for infants.