Concomitant imaging and genetic findings in children with unilateral sensorineural hearing loss.

OBJECTIVE: To describe the concomitant imaging and genetic findings in children diagnosed with non-syndromic unilateral sensorineural hearing loss. METHODS: A retrospective cohort study was conducted of 60 children diagnosed between January 2005 and December 2015 in a tertiary-level paediatric institution. RESULTS: Average age at diagnosis was 4.3 years. All children were considered non-syndromic. Hearing loss was categorised as mild (17 children), moderate (17 children), severe (7 children) or profound (19 children). Imaging was performed in 43 children (71.66 per cent). Nineteen patients (44.2 per cent) had positive computed tomography or magnetic resonance imaging findings. Genetic testing was performed in 51 children (85 per cent). Sixteen children (31 per cent) tested positive to connexin 26 (GJB2); 1 patient (2 per cent) had a homozygous mutation of GJB2 and 15 were heterozygous carriers. Amongst children who tested positive as heterozygous carriers of a GJB2 mutation, there was a high rate of positive imaging findings (47 per cent compared to 37.2 per cent in the total cohort). A genetic abnormality was confirmed in 50 per cent of children with positive imaging findings who underwent genetic testing. CONCLUSION: Rates of concomitant imaging and genetic findings suggest that both investigations are of value in the study of these patients.

Etiology of single-sided deafness and asymmetrical hearing loss.

CONCLUSIONS: The present study revealed that various etiologies are involved in single-sided deafness (SSD), and that the cause of SSD and asymmetrical hearing loss (AHL) differed greatly between congenital/early-onset cases and adult cases. Clarification of the etiology is the first step toward providing appropriate intervention. OBJECTIVES: The study aimed to clarify the etiology of SSD and AHL patients. METHODS: The etiology of a total of 527 SSD or AHL patients who visited Shinshu University Hospital between 2006 and 2016 were analyzed by imaging as well as serological tests for mumps virus, and CMV DNA testing. RESULTS: In our cohort of congenital/early-onset SSD (n = 210), the most prevalent cause in children was cochlear nerve deficiency (43.7%; 87 of 199 patients undergoing CT and/or MRI), followed by CMV infection, mumps infection, anomalies of the inner ear, ANSD, and other rare etiologies. In contrast, half of the adult SSD patients presented with idiopathic sensorineural hearing loss, followed by various types of otitis media, cerebellopontine angle tumor and other rare etiologies.

Pathologic erythrocyte deformability in patients with sudden sensorineural hearing loss.

OBJECTIVE: To evaluate if viscoelastic properties of blood influence suffering sudden sensorineural hearing loss and the capacity to respond after a specific therapy. PATIENTS AND METHODS: A longitudinal prospective study included 85 ears bearing sudden deafness. In them, the mean hearing loss compared to the healthy ear and the recovery ratio were measured at the onset and 6 months after a treatment with corticoids and piracetam. In addition, tinnitus or vestibular symptoms, whole blood filterability (WBF) and erythrocyte deformability -by means of the erythrocyte rigidity index (ERI)- were determined and noted at the beginning and the end of the study. RESULTS: Mean hearing loss was 30.3±19.7% at the onset, and 25.8±39% at the end. Forty-one ears showed a recovery of more than 75%. In these (48% of the entire study group), an increase in WBF and a decrease in ERI were observed (P<.001). Ears without tinnitus or vestibular crisis recovered more hearing at 6 months and showed a significant improvement in WBF and ERI, not detected among patients with these clinical findings. There were good correlations between mean hearing loss at onset and WBF, and between recovery and ERI at 6 months, but without statistical significance. Patients with arterial hypertension, cardiopathy and hypercholesterolemia were the most frequently detected, while hypertension and hyperuricaemia showed a better hearing recovery ratio. CONCLUSIONS: The blood viscosity parameters WBF and ERI offer useful information about the risk of suffering sudden deafness and the capacity to recover hearing with reactive therapies.

Cytomegalovirus DNA detection in Guthrie cards: role in the diagnostic work-up of childhood hearing loss.

INTRODUCTION: Cytomegalovirus (CMV) infection is the leading cause of congenital nongenetic sensorineural hearing loss (SNHL) and a major cause of prelingual SNHL that is not present at birth. Polymerase chain reaction (PCR) analysis of dried blood samples on the Guthrie card has been proposed as a sensitive and specific method to screen for congenital CMV infection. METHODS: Prospectively, consecutive infants who failed universal neonatal hearing screening and children referred for a noncongenital SNHL (NCHL) were included and underwent a standard audiometric and etiologic work-up. DNA was extracted from dried blood spots on neonatal Guthrie cards and amplified by real-time PCR. Data were available for 96 cases. RESULTS: Mean age of the universal neonatal hearing screening group was 3.8 +/- 2.4 months (n = 41). Auditory brain stem response thresholds were 72.9 +/- 20.2 dB nHL. A CMV-positive PCR was obtained in 4 babies. One test was considered false-positive. This resulted in a 7.3% prevalence of congenital CMV infections.Mean age of the NCHL group was 4.9 +/- 3.2 years (n = 55). Hearing loss was moderate in 37, severe in 5, and profound in 13 children. A CMV-positive PCR was obtained in 4 children (7.3%). Other causes of SNHL were excluded in the PCR positive cases of both study groups. CONCLUSION: We advocate PCR for CMV DNA detection on Guthrie cards in the etiologic work-up of childhood SNHL and recommend serologic confirmation to exclude false-positive PCR results. 7.3% of SNHL in babies with congenital hearing loss and children with NCHL could be attributed with this technique to congenital CMV infection.