Autosomal dominant non-syndromic hearing loss (HL) typically occurs when only one dominant allele within the disease gene is sufficient to express the phenotype. Therefore, most patients diagnosed with autosomal dominant non-syndromic HL have a hearing-impaired parent, although de novo mutations should be considered in all cases of negative family history. To date, more than 50 genes and 80 loci have been identified for autosomal dominant non-syndromic HL. DFNA22 (MYO6 gene), DFNA8/12 (TECTA gene), DFNA20/26 (ACTG1 gene), DFNA6/14/38 (WFS1 gene), DFNA15 (POU4F3 gene), DFNA2A (KCNQ4 gene), and DFNA10 (EYA4 gene) are some of the most common forms of autosomal dominant non-syndromic HL. The characteristics of autosomal dominant non-syndromic HL are heterogenous. However, in most cases, HL tends to be bilateral, post-lingual in onset (childhood to early adulthood), high-frequency (sloping audiometric configuration), progressive, and variable in severity (mild to profound degree). DFNA1 (DIAPH1 gene) and DFNA6/14/38 (WFS1 gene) are the most common forms of autosomal dominant non-syndromic HL affecting low frequencies, while DFNA16 (unknown gene) is characterized by fluctuating HL. A long audiological follow-up is of paramount importance to identify hearing threshold deteriorations early and ensure prompt treatment with hearing aids or cochlear implants.

SUMMARY: Sudden sensorineural hearing loss is defined as acute hearing loss of the sensorineural type of at least 30 dB over 3 contiguous frequencies that occurs within a 72-hour period. Although many different causative factors have been proposed, sudden sensorineural hearing loss is still considered “idiopathic” in 71%–85% of cases, and treatments are empiric, not based on etiology. MR imaging implemented with a 3D FLAIR sequence has provided new insights into the etiology of sudden sensorineural hearing loss. Herein, we review the current management trends for patients with sudden sensorineural hearing loss, from the initial clinical diagnosis to therapeutic strategies and diagnostic work-up. We focused primarily on MR imaging assessment and discuss the relevance that MR imaging findings might have for patient management, pointing out different perspectives for future clinical research.

La possibilità di conservazione dei residui uditivi è stata correlata a fattori chirurgici quali il tipo di cocleostomia (transfenestrale vs. promontoriale), l’uso di lubrificanti e farmaci otoprotettivi, e a fattori legati all’impianto quali la forma, la lunghezza e la flessibilità dell’elettrodo. Abbiamo studiato l’impatto di questi fattori sul tasso di conservazione dell’udito residuo in adulti e bambini con indicazioni audiologiche convenzionali all’impianto cocleare. Ottantadue bambini di età compresa tra 1 e 9 anni e 73 adulti (tra 16 e 79 anni) hanno ricevuto un IC monolaterale, nell’orecchio destro (59%) o sinistro (41%). Una cocleostomia promontoriale antero-inferiore è stata impiegata in 143 orecchi (92%), e un approccio a trans-fenestrale in 12 (8%). Un elettrodo perimodiolare è stato impiantato in 144 orecchi (93%); un elettrodo “straight” è stato utilizzato nei rimanenti 11 (7%). Complessivamente, un residuo uditivo post-operatorio è stato mantenuto nel 39% dei casi. Il tasso di conservazione è stato superiore alle frequenze gravi rispetto alle acute. Quando correlato all’età, al lato dell’impianto, al modello di elettrodo e al tipo di cocleostomia, le variazioni medie di soglia uditiva acustica non sono risultate statisticamente significative per alcuna di queste variabili. Un lieve trend in favore di una migliore conservazione uditiva si è osservato nei bambini rispetto agli adulti, specialmente alle frequenze gravi.

To report on the outcomes of cochlear implantation (CI) in a child with cochleovestibular nerves (CVN) hypoplasia. Retrospective case review. Tertiary referral center, University hospital. An 18-month-old child with profound bilateral congenital hearing loss and bilateral hypoplasia of the CVN at imaging. Left CI at age 29 months with a Nucleus Contour device (Cochlear Ltd., Lane Cove, New South Wales, Australia) after unsatisfactory results of hearing aid use for 10 months. Speech perception tests, behavioral observation, electrophysiologic tests, and cognitive evaluation. Although the child scores poorly in every perceptive category with the CI alone, the device greatly enhances his speech understanding with the hearing aid in the opposite ear. In the bimodal condition, his words and sentences identification, recognition, and comprehension far exceed the monaural figures. The Meaningful Auditory Integration Scale (MAIS) tests reaches a score of 26/40, and the MacArthur's questionnaires confirm the improvement of language production and comprehension. These results became noticeable after 5 to 6 months and continued to improve up to the 10th month. The child's cognitive scores and overall performance competences greatly benefit from the CI, with the mental age overcoming the chronological age. We can confirm the chance of achieving satisfactory results by CI even when the imaging of CVN is doubtful and the electrophysiological tests are disappointing. In our experience, a CI in Type IIb dysplasia of the CVN is a feasible option, provided that the candidate shows some responses at aided audiogram and at least minimal signs of language development. Adequate counseling is necessary for these children because the expected outcome is somewhat lower than that of their deaf peers with normal appearance of the nerves.

Purpose: Aims of this research were (a) to investigate higher order linguistic and cognitive skills of Italian children with cochlear implants (CIs); (b) to correlate them with the comprehension of irony, which has never been systematically studied in this population; and (c) to identify the factors that facilitate the development of this competence. Method: We tested 28 Italian children with CI (mean chronological age = 101 [ SD = 25.60] months, age range: 60–144 months), and two control groups of normal-hearing (NH) peers matched for chronological age and for hearing age, on a series of tests assessing their cognitive abilities (nonverbal intelligence and theory of mind), linguistic skills (morphosyntax and prosody recognition), and irony comprehension. Results: Despite having grammatical abilities in line with the group of NH children matched for hearing age, children with CI lag behind both groups of NH peers on the recognition of emotions through prosody and on the comprehension of ironic stories, even if these two abilities were not related. Conclusions: This is the first study that targeted irony comprehension in children with CI, and we found that this competence, which is crucial for maintaining good social relationships with peers, is impaired in this population. In line with other studies, we found a correlation between this ability and advanced theory of mind skills, but at the same time, a deeper investigation is needed, to account for the high variability of performance in children with CI.

BACKGROUND AND PURPOSE: No reliable MR imaging marker for the diagnosis of Menière disease has been reported. Our aim was to investigate whether the obliteration of the inferior portion of the vestibule and the contact with the stapes footplate by the vestibular endolymphatic space are reliable MR imaging markers in the diagnosis of Menière disease. MATERIALS AND METHODS: We retrospectively enrolled 49 patients, 24 affected by unilateral sudden hearing loss and 25 affected by definite Menière disease, who had undergone a 4-hour delayed 3D-FLAIR sequence. Two readers analyzed the MR images investigating whether the vestibular endolymphatic space bulged in the third inferior portion of the vestibule contacting the stapes footplate. This sign was defined as the vestibular endolymphatic space contacting the oval window. RESULTS: We analyzed 98 ears: 27 affected by Menière disease, 24 affected by sudden sensorineural hearing loss, and 47 that were healthy. The vestibular endolymphatic space contacting the oval window showed an almost perfect interobserver agreement (Cohen κ = 0.87; 95% CI, 0.69–1). The vestibular endolymphatic space contacting oval window showed the following: sensitivity = 81%, specificity = 96%, positive predictive value = 88%, and negative predictive value = 93% in differentiating Menière disease ears from other ears. The vestibular endolymphatic space contacting the oval window showed the following: sensitivity = 81%, specificity = 96%, positive predictive value = 96%, negative predictive value = 82% in differentiating Menière disease ears from sudden sensorineural hearing loss ears. CONCLUSIONS: The vestibular endolymphatic space contacting the oval window has high specificity and positive predictive value in differentiating Menière disease ears from other ears, thus resulting in a valid tool for ruling in Menière disease in patients with mimicking symptoms.