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Given the crucial role of the personalized management and treatment of hearing loss (HL), etiological investigations are performed early on, and genetic analysis significantly contributes to the determination of most syndromic and nonsyndromic HL cases. Knowing hundreds of syndromic associations with HL, little comprehensive data about HL in genomic disorders due to microdeletion or microduplications of contiguous genes is available. Together with the description of a new patient with a novel 3.7 Mb deletion of the Xq21 critical locus, we propose an unreported literature review about clinical findings in patients and their family members with Xq21 deletion syndrome. We finally propose a comprehensive review of HL in contiguous gene syndromes in order to confirm the role of cytogenomic microarray analysis to investigate the etiology of unexplained HL.

Far-advanced otosclerosis (FAO) refers to severe otosclerosis with scarce auditory functions. The identification of the best method to correctly listen to sound and speech has a large impact on patients' quality of life. We retrospectively analyzed the auditory function of 15 patients affected by FAO who were treated with stapedectomy plus hearing aids independent of the severity of their auditory deficit before surgery. The combination of surgery and hearing aids allowed excellent recovery of the perception of pure tone sounds and speech. Four patients, because of poor auditory thresholds, needed a cochlear implant after stapedectomy. Despite being based on a small sample of patients, our results suggest that stapedotomy plus hearing aids could improve the auditory capacities of patients with FAO independent of their auditory thresholds at T0. The careful selection of patients is fundamental to obtain the best outcomes. [ABSTRACT FROM AUTHOR]

Hearing impairment is the most frequent of the sensorial defects in humans, and if not treated promptly, can severely impair cognitive and spoken language skills. For this reason, a universal newborn hearing screening (UNHS) has been established. The purpose of our study is to examine, by means of a retrospective analysis, the results of the UNHS program in the Umbria region during the spread of COVID-19 (2020–2021), comparing the same data from the years 2011–2012, to understand if the program has improved. Our study has shown how the coverage rate of well born babies' (WB) screening has significantly increased to currently meet the JCIH benchmark. The percentage of WB referrals significantly decreased in 2020–2021, another indicator of the screening program's greater efficiency in Umbria. However, a critical issue has emerged: the percentage of those lost to follow-up is greater than 30%, well above the benchmark. As far as the COVID-19 pandemic has certainly had a significant impact, it is necessary to carefully monitor those who do not access the diagnostic level. To emphasize the importance of a proper screening program, it will be helpful to strengthen the computerized data collection system and create an information network between audiologists, pediatricians and families. [ABSTRACT FROM AUTHOR]

Working memory (WM) function can be reduced in patients suffering from unilateral hearing loss (UHL) and can affect their academic performance. We aimed to compare the WM abilities of three categories of children with UHL: patients implanted with hearing aids (HAs), patients receiving a bone-anchored hearing implant (BAHI), and subjects who did not receive hearing devices. A randomized clinical study, in which 45 children (mean age: 9.5 years) were evaluated by pure tone audiometry (to identify the side and the severity of the UHL), was conducted in a tertiary referral center. Patients were simply randomized into three groups: (1) children without HAs (No-HA group), (2) patients with a (digital) HA (HA group), and (3) children with a BAHI (BAHI group). Their working and short-term memories were studied in both noisy and silent conditions at the recruiting time (T0, baseline) and 6 months after (T1) the treatment. Statistical analyses were performed to analyze the variances between T0 and T1 within each group and between the three groups. The No-HA group improved its T1 WM scores in silence (p < 0.01), but not in noise. The HA and BAHI groups showed statistically significant variances of T1 WM in noise (p < 0.01 and p < 0.01, respectively). The HA and BAHI groups did not show statistically significant variances compared to T1. Our results suggest that hearing devices (HA and BAHI) in children with sensorineural UHL (SUHL) can improve WM capacity in noise. We speculate that bilateral hearing capacity might improve the quality of life of this population, especially during everyday activities where noise is present. [ABSTRACT FROM AUTHOR]