暂无摘要。

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.

UNASSIGNED: Pendred syndrome, an autosomal recessive disorder, is often associated with pathogenic variants of the SLC26A4 gene that encodes the pendrin protein. Given its autosomal recessive inheritance, tracing the family history and screening siblings become crucial once a diagnosis of Pendred syndrome is confirmed. This case report aims to underscore the variability in inner ear morphology within a family diagnosed with Pendred syndrome, all carrying the same SLC26A4 gene mutation.
UNASSIGNED: A chart review and a review of the literature.
UNASSIGNED: We present a family of 4, all of whom possess sensorineural hearing loss due to the same homozygous SLC26A4 variant c.919-2A>G. Intriguingly, clinical manifestations, especially inner ear deformities, displayed variability among family members. Notably, 1 family member exhibited a normal cochleovestibular structure morphology, which was rarely reported in the literature.
UNASSIGNED: This report highlights the significance of genetic testing and familial consultation when a proband exhibits typical Pendred syndrome symptoms. It also underscores that the inner ear morphology can exhibit variability among family members, even with the same homozygous SLC26A4 variant.

OBJECTIVE: Cochlear nerve deficiency (CND) is a common radiologic finding among unilateral sensorineural hearing loss (USNHL) patients. It is generally detected with magnetic resonance imaging (MRI), which is associated with higher cost, less availability, and possible need for sedation. Therefore, identifying computed tomography (CT) findings, such as cochlear aperture stenosis (CAS), that can reliably predict CND is valuable. Our study aimed to determine the prevalence of CND in pediatric patients with CT-diagnosed CAS.
METHODS: Retrospective study.
METHODS: Tertiary care center.
METHODS: We included pediatric patients diagnosed with CAS on temporal bone CT and with available temporal bone MRI. For each patient, an otolaryngologist and a pediatric neuroradiologist measured the cochlear aperture width on CT to confirm CAS (cochlear aperture < 1.4 mm) and assessed the status of the cochlear nerve on MRI.
RESULTS: Fifty-five patients, representing 65 ears, had CAS on CT measurement. Median cochlear aperture width in CAS ears was 0.70 mm (interquartile range [IQR]: 0.40-1.05 mm) versus 2.00 mm in non-CAS ears (IQR: 1.80-2.30 mm, P < .001). CND was found in 98.5% (n = 64/65) of CAS ears, while a normal cochlear nerve was found in 1.5% (n = 1/65) of CAS ears.
CONCLUSIONS: CND is highly prevalent among pediatric patients with CAS. This suggests that MRI may not be needed to assess for CND in USNHL patients with CAS, as initial CT may provide sufficient information to determine cochlear implant candidacy. We recommend thoughtful shared decision-making with parents of USNHL patients when determining whether to pursue MRI in the setting of a CAS diagnosis.

UNASSIGNED: Children with early-identified unilateral hearing loss (UHL) might be at risk for delays in early speech and language, functional communication, psychosocial skills, and quality of life (QOL). However, a paucity of relevant research prohibits strong conclusions. This study aimed to provide new evidence relevant to this issue.
UNASSIGNED: Participants were 34 children, ages 9;0 to 12;7 (years;months), who were identified with UHL via newborn hearing screening. Nineteen children had been fitted with hearing devices, whereas 15 had not. Assessments included measures of speech perception and intelligibility; language and cognition; functional communication; psychosocial abilities; and QOL.
UNASSIGNED: As a group, the children scored significantly below the normative mean and more than one standard deviation below the typical range on speech perception in spatially separated noise, and significantly below the normative mean on written passage comprehension. Outcomes in other aspects appear typical. There was however considerable within participant variation in the children\'s degree of hearing loss over time, raising the possibility that this pattern of results might change as children get older. The current study also revealed that participants with higher levels of nonverbal ability demonstrated better general language skills and better ability to comprehend written passages. By contrast, neither perception of speech in collocated noise nor fitting with a hearing device accounted for unique variance in outcome measures. Future research should, however, evaluate the fitting of hearing devices using random assignment of participants to groups in order to avoid any confounding influence of degree of hearing loss or children\'s past/current level of progress.

Individuals with Kabuki syndrome type 1 (KS1) often have hearing loss recognized in middle childhood. Current clinical dogma suggests that this phenotype is caused by frequent infections due to the immune deficiency in KS1 and/or secondary to structural abnormalities of the ear. To clarify some aspects of hearing loss, we collected information on hearing status from 21 individuals with KS1 and found that individuals have both sensorineural and conductive hearing loss, with the average age of presentation being 7 years. Our data suggest that while ear infections and structural abnormalities contribute to the observed hearing loss, these factors do not explain all loss. Using a KS1 mouse model, we found hearing abnormalities from hearing onset, as indicated by auditory brainstem response measurements. In contrast to mouse and human data for CHARGE syndrome, a disorder possessing overlapping clinical features with KS and a well-known cause of hearing loss and structural inner ear abnormalities, there are no apparent structural abnormalities of the cochlea in KS1 mice. The KS1 mice also display diminished distortion product otoacoustic emission levels, which suggests outer hair cell dysfunction. Combining these findings, our data suggests that KMT2D dysfunction causes sensorineural hearing loss compounded with external factors, such as infection.

OBJECTIVE: Hearing loss (HL) constitutes an increasing worldwide health problem. Neonatal hearing screening improved early detection and management to alleviate HL detriments on the person and society. Still, HL in childhood, beyond infancy, is under-investigated, especially in developing countries. This study aimed to explore the prevalence of HL in childhood amongst Jordanian children with HL risk factors and investigate the associated risk factors.
METHODS: Retrospective cross-sectional review of audiological records in a tertiary public and teaching hospital. The data of 1307 children aged 0-15 years who underwent audiological assessment from 2000 to 2016 were included. A review of diagnostic audiological and medical records was conducted to investigate the prevalence of sensorineural HL in high-risk (HR) children and the most contributing risk factors.
RESULTS: Descriptive statistical analysis showed that the prevalence of sensorineural HL was 29.2% in the study sample. The HL was bilateral in 95% and mild to moderate HL in 73%. The mean age at the diagnosis was around 4.5 years. The most common risk factors were parental concern about their child\'s hearing, ototoxic drug use, and developmental and speech delay. The Chi-squared test showed that parental concern and ototoxic drug use were associated with an increased probability of having HL.
CONCLUSIONS: The prevalence of HL amongst at-risk children in Jordan is relatively high, and the diagnosis is delayed. The results highlight the importance of implementing a hearing screening program in at-risk children. This needs to start from birth and include a serial follow-up to detect cases of delayed-onset HL.

BACKGROUND: The early diagnosis of hearing loss (HL) and hearing rehabilitation facilitate language and communication development. Some children exhibit mixed HL due to middle ear effusion (MEE) or acute otitis media (AOM). Mixed HL can affect HL evaluation and hearing aid (HA) fitting. The present study retrospectively evaluated the prevalence of MEE/AOM among children with congenital sensorineural HL (SNHL) who were fitted with HAs and its effect on the HA fitting.
METHODS: Thirty-six HA fittings carried out between 2017 and 2020 at one rehabilitation center were examined. Medical and audiological information was retrieved for children between 6 and 32 months old. The number of appointments and HA fitting times were recorded.
RESULTS: Twenty-eight children were included in the study. Eighteen children, in addition to SNHL, had a conductive component resulting from MEE/AOM. The children with these pathologies required significantly more HA fitting sessions and hearing tests, fewer real ear to coupler difference (RECD) measurements and longer HA fitting periods.
CONCLUSIONS: The findings indicate that a large number of children fitted with HAs have an additional conductive component that makes the fitting process longer. Since early rehabilitation is necessary for language development, otolaryngologists should be aware of the adverse effects of MEE/AOE on the HA fitting process. It is important to inform parents that when there is a conductive component, the HA fitting process may take longer and that treatment by an otolaryngologist is vital. This study stresses the importance of multidisciplinary cooperation for optimal HA fitting.

Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an autosomal dominant disorder. Because HDR syndrome is caused by haploinsufficiency in GATA3, it exhibits variation in the onset and progression of hearing loss. In previous reports, the automated auditory brainstem response (AABR) was considered insufficient to detect sensorineural hearing loss caused by HDR syndrome. We report a case of HDR syndrome whose congenital hearing loss was detected by newborn hearing screening (NHS) using AABR. In this case, HDR syndrome was suspected due to hearing loss, hypocalcemia, and her family history. Genetic testing confirmed the diagnosis of HDR syndrome at 5 months of age. Because the phenotype of hearing loss due to HDR syndrome is variable and includes progressive hearing loss, these cases may not be detected by the HNS. However, most of the previous reports were published before the NHS became common and given the frequency of hearing loss complications in HDR syndrome. We consider that there is a reasonable number of HDR syndrome cases with abnormalities on the NHS. We believe that the NHS may also be useful for early detection of hearing loss due to HDR syndrome.

OBJECTIVE: To study and analyse the result obtained in cochlear implantation by Veria technique and evaluate the incidence of surgical complications and their management.
METHODS: Between Jan 1, 2014 to Jan 1, 2019, 602 cochlear implantations by Veria technique were done out of which 576 patients were analysed retrospectively for the study. The age range was between 18 months and 60 years.
RESULTS: All 576 patients were operated by Veria technique. Out of 576 patients, 57 (9.9%) had abnormal cochlear malformation. Cytomegalovirus (CMV) being the most common non genetic cause of congenital hearing loss accounting to 60%. The overall complication rate of 5.5% was observed in 576 implanted patients.
CONCLUSIONS: The analysis of the results shows that this method has certain advantages, which are: it is simple and therefore the learning curve is fast; it is safe for the facial nerve, as the drilling is precisely controlled by the special perforator; it produces minimal bone trauma and due fast healing, it permits early fitting a few days after operation; it can be used for very small children where the mastoid may have not been yet sufficiently developed.