Vestibular and audiological findings in the Alport syndrome.

Alport syndrome (AS) is caused by mutations in collagen IV, which is widespread in the basement membranes of many organs, including the kidneys, eyes, and ears. Whereas the effects of collagen IV changes in the cochlea are well known, no changes have been described in the posterior labyrinth. The aim of this study was to investigate both the auditory and the vestibular function of a group of individuals with AS. Seventeen patients, aged 9-52, underwent audiological tests including pure-tone and speech audiometry, immittance test and otoacoustic emissions and vestibular tests including video head impulse test, rotatory test, and vestibular evoked myogenic potentials. Hearing loss affected 25% of the males and 27.3% of the females with X-linked AS. It was sensorineural with a cochlear localization and a variable severity. 50% of the males and 45.4% of the females had a hearing impairment in the high-frequency range. Otoacoustic emissions were absent in about one-third of the individuals. A peripheral vestibular dysfunction was present in 75% of the males and 45.4% of the females, with no complaints of vertigo or dizziness. The vestibular impairment was compensated and the vestibulo-ocular reflex asymmetry was more evident in rotatory tests carried out at lower than higher speeds; a vestibular hypofunction was present in all hearing impaired ears although it was also found in subjects with normal hearing. A posterior labyrinth injury should be hypothesized in AS even when the patient does not manifest hearing disorders or evident signs of renal failure.

A Case Report of Malignant Cerebellopontine Angle Lesion Highlighting the Interdisciplinary Diagnostic Challenge in the Case of Unilateral Progressive Hearing Loss.

The authors present the case of a young boy who experienced progressive unilateral hearing loss initially believed to be unrelated to any other medical condition. Methods: The patient received a thorough evaluation, which included a comprehensive battery of audiological tests, a CT scan, and a gadolinium-enhanced MRI. Results: A repeated imaging investigation revealed the presence of a mass that mimicked a vestibular schwannoma (VS), but despite this, the boy was ultimately diagnosed with cerebral manifestations of B-cell acute lymphoblastic leukemia (B-ALL). Conclusions: Cerebral lesions originating from the internal auditory canal are rare in cases of B-ALL. In this case, the initial signs and symptoms of the disease were solely related to the audiovestibular system, making the diagnostic process particularly complicated. Unilateral hearing loss cases may indicate the presence of potentially life-threatening conditions, even if the hearing loss appears to be clinically non-syndromic. For these reasons, unilateral hearing losses necessitate a comprehensive interdisciplinary diagnostic approach from the very start of auditory manifestation and, in particular, if the hearing impairment demonstrates threshold progression.

The timeline of non-vocal and vocal communicative skills in infants with hearing loss.

Objective: The study investigates what is the link between early verbal and non-vocal abilities, when does predominantly verbal communicative style occur after the intervention with cochlear implants (CI) or hearing aids (HA), and how predictive it is of later linguistic development in deaf and hard of hearing (DHH) infants and children. Methods: Cohort: children with moderate-to-profound hearing impairment (N = 49, 20 girls, mean age at HA or CI intervention = 15 months, range: 4-35 months). Measures: Receptive and productive vocabulary at 24 and 36 months and video analysis at 12 months post-intervention. Analysis: Predictive values of total and verbal responses to communicative turns for later vocabulary development were assessed, as well as the relative time course of the development of vocal/verbal communication in DHH children. Results: Vocabulary at 24 months is predicted by auditory responses at 12 months, as well as by overall responsiveness before intervention. Non-vocal responses decline and overall verbal responses increase significantly between 6 and 12 months after intervention. The trend is delayed in children with delayed (>12 months of age) treatment with CI or HA. Conclusions: Age of intervention affects the development of vocal/verbal communicative style. Language development, in particular, vocabulary growth, can be further stimulated by the enhancement of preverbal (both vocal and non-vocal) communicative skills.