A Novel Clinical Feature in NOG Gene Mutation-Associated Syndrome

Inner ear pathology in the mucopolysaccharidosis VII mouse

Introduction: Chronic suppurative otitis media is one of the most common conditions encountered by Otologists in daily practice. Conventionally hearing loss in CSOM is conductive in nature, but it has been observed that some patient displayed an additional sensorineural component to their conductive hearing loss (mixed hearing loss). Material and Methods: A prospective cohort observational study on 100 Cases in two groups of 50 each who had safe CSOM and 50 unsafe CSOM conducted over a period of July 2011 to September 2013 at the Department of Otorhinolaryngology, Padmashree Dr. D. Y. Patil Medical College, Hospital and Research Centre (DPU), Pimpri, Pune. Detailed history, complete ENT examination was done. They were then subjected to Puretone audiometry; air and bone conduction thresholds were tested and plotted on the audiogram. Univariate and multivariate logistic regression (odds ratio) analyses were used. Results: Incidence of hearing loss is 72%for conductive type and 28% is of mixed type, in which 72% are of safe conductive, 18% safe mixed type and 64% are of unsafe conductive, 36% are in unsafe mixed type. Incidence of SNHL increases as age increases being maximum in age group of 41-50 years i.e. 37.50% and minimum in 11-20 years i.e. 5.71%. 14% cases of unsafe chronic suppurative otitis media were found to be associated with labyrinthine fistula. This proved to be the commonest cause of sensorineural component in unsafe chronic suppurative otitis media followed by granulation over oval window (8%) and cholesteatoma extending to round window in 4 % of cases. Conclusion: In the present study incidence of sensorineural hearing loss increased with advancing age, showing that age is a risk factor for sensorineural component of hearing loss in CSOM though conductive hearing loss is more common. CSOM is associated with mixed hearing loss mainly >35dB, higher frequencies were involved.

1) To evaluate the long-term incidence and degree of the sensorineural component of hearing loss (SNHL) in patients with otosclerosis after accounting for expected age-related hearing loss. 2) To identify variables that might predict development of sensorineural hearing loss due to otosclerosis. Retrospective audiometric database and chart review. Tertiary referral center. Consecutive patients with otosclerosis observed between 1994 and 2004, with ≥10 years follow-up, excluding patients with postoperative hearing loss or surgery before the initial audiogram. Bone conduction (BC) thresholds at 0.5, 1, 2, and 4 kHz and Word Recognition. BC threshold change (BCTC) over ≥10 years minus estimated age-related threshold change (ARTC) specific to age and sex for each patient (based on ISO 7029 reference population). Three-hundred fifty-seven ears (290 patients) met study criteria, including 217 ears that had undergone stapedectomy during the study period. Mean follow-up was 14.0 years. The average BCTC after subtracting estimated ARTC was 4.6, 2.6, 3, and 2.7 dB for 0.5, 1, 2, and 4 kHz frequencies, respectively. However, 34% of ears (122 ears) had clinically significant progression of SNHL during the study period (>10 dB BCTC beyond expected ARTC at ≥2 frequencies). Multivariate analysis demonstrated that the probability of developing clinically significant SNHL was higher for women (odds ratio 1.86, p = 0.018) and lower for operated patients (odds ratio 0.46, p = 0.002). The average long-term sensorineural hearing loss due to otosclerosis was statistically significantly more than for age alone at each frequency, but these average values (from 2.6 to 4.6 dB for tested frequencies) were clinically insignificant. Approximately one-third of patients with otosclerosis demonstrated a clinically significant progression of the sensorineural component of hearing loss, with the average BCTC above expected age-related changes ranging from 10.2 to 14.6 dB for tested frequencies among this subgroup.

To study age-related patient satisfaction with the bone-anchored hearing aid (BAHA) compact. A retrospective postal questionnaire, the International Outcome Inventory for Hearing Aids (IOI-HA), was sent to 211 BAHA Compact users. Questionnaire responses from 135 BAHA users were analyzed related to age, sex, years of BAHA experience, and the hearing thresholds (pure-tone average) at the aided side. Age ranged from 18 to 77 years. The IOI-HA showed that the BAHA Compact was greatly appreciated by almost all of the users: most patients stated that they were using the device for most of the day; it helped them to hear better and it reduced the number of situations in which hearing impairment was problematical. The cumulative score on the questionnaire was negatively influenced by age (rho = -0.191, p = 0.05). Furthermore, increase in sensorineural hearing loss (SNHL) component was associated with decrease in total IOI-HA scores (Spearman rho = -0.193, p < 0.05). A significant correlation was found between age and the SNHL component (Spearman rho = 0.525, p < 0.001).There were no significant differences in the levels of difficulty with placing the BAHA on the implant or with handling the BAHA between the age groups. Cleaning the skin around the implant causes the most difficulties in the youngest age group (p < 0.02). The BAHA Compact enhances participation in various domains of communication. Differences in patients' satisfaction seemed to be correlated with the SNHL component rather than age.

Three aspects of brainstem response audiometry were investigated in the present study. (1) The brainstem response threshold was compared with the pure-tone audiogram in 40 patients with conductive hearing loss. The brainstem response threshold has a one-to-one relationship with the mean of the pure-tone thresholds at 2 and 4 kHz. The correlation coefficient in this comparison is 0.84 and the standard error of the estimate is 8.3 dB. Taking into account corresponding results in cochlear hearing loss [Drift et al.: Audiology 26: 1-10, 1987] it is concluded that the brainstem response threshold provides a good estimate of the amount of peripheral hearing loss, independent of the type of hearing loss. (2) It was shown [Drift et al.: Audiology 27: 260-270, 1988] that different types of peripheral hearing loss can be distinguished reliably with brainstem response audiometry. Parameters relevant for this distinction were the horizontal shift of the latency-level curve (1(L) curve), that of its derivative and the response threshold. In the clinical situation measurement of the response threshold is not always possible due to restlessness of the patient. To simulate this situation we randomly truncated the lower parts of the 1(L) curves of quiet patients. The test group consisted of 22 adult normally hearing subjects, 79 patients with cochlear hearing loss, 40 with conductive hearing loss and 22 with mixed hearing loss. Linear discriminant analysis was applied to the horizontal shift of the 1(L) curve and of its derivative. The brainstem diagnosis 'normal hearing' correctly excludes a conductive hearing loss in 98% of the cases and the brainstem diagnosis 'cochlear hearing loss' does so in 79%. The brainstem diagnosis 'conductive hearing loss' correctly predicts a conductive component of hearing loss in 94% of the cases and the brainstem diagnosis 'mixed hearing loss' does so in 90%. The distinction between cochlear hearing loss and normal hearing is not reliable, neither is the distinction between conductive and mixed hearing loss. (3) The amount of the conductive component of hearing loss can be estimated by the horizontal shift of the 1(L) curve. Statistical comparison with the mean of the air-bone gaps at 2 and 4 kHz gave a correlation coefficient of 0.77, a standard error of the estimate of 9.7 dB, and a slope of the regression line of 0.93. An overestimation of about 7 dB has to be taken into account in case of mixed hearing loss.

The Bonebridge implant in older children and adolescents with mixed or conductive hearing loss: Audiological outcomes

Objectives: To determine whether temporal bone computed tomography (CT) features are linked to the presence and type of hearing loss in osteogenesis imperfecta (OI) when considering hearing-impaired OI patients and normally hearing (NH) OI ones. A secondary objective was to assess whether other factors influence CT features in a large sample: age, type of mutation, or bone mineral density (BMD). Methods: A total of 41 adults with OI underwent CTs and pure-tone audiometry in 82 ears. Hearing thresholds were normal in 64 out of 82 ears, and most had not been operated on for stapedectomy or stapedotomy. Ossicle density, footplates, oval and round windows, retrofenestral peri- and endolabyrinths, and temporal pneumatization were analyzed twice by an experienced radiologist. CT features were compared to hearing, age, collagen mutations, and bone mineral density. Results: Unexpectedly a high prevalence of footplate, ossicle, and otic capsule anomalies was observed, even in NH ears. Footplate hypodensity or thickening was mostly found in ears without conductive hearing loss. There were significantly more retrofenestral anomalies or window obstruction in ears with a sensorineural hearing loss component than in ears without. Age was significantly higher in ears with middle layer hypodensity than in ears without. Patients with mutations were expected to have reduced collagen quantity and had significantly more footplate or retrofenestral anomalies than those with qualitative mutations. BMD was significantly higher in ears without temporal hyperpneumatization. Conclusion: Temporal bone CT features in OI are present in a large proportion of patients, had they hearing loss or not, and might be determined more by collagen mutation type than by age or BMD.

Background: Sudden-onset bilateral mixed hearing loss in adults is an extremely rare condition but challenging to diagnose and treat. Conductive hearing loss is associated with otitis media, while the simultaneous presence of a sensorineural component requires supplementary investigation for possible shared pathophysiological mechanisms. Case Presentation: We report the case of a 41-year-old male who was admitted to our hospital with a 48 h history of bilateral, fast progressive hearing loss following a viral illness. The audiologic testing revealed bilateral severe mixed hearing loss. Tympanometry indicated the presence of middle-ear effusion, and myringotomy confirmed the existence of pressurized serous fluid. Treatment consisted of systemic and intratympanic corticosteroids, antibiotics, and supportive therapy. The patient had an unexpected full recovery of auditory function within one month. Discussion: Multiple hypotheses were considered. We hypothesized the coexistence of unrelated conductive and sensorineural hearing loss or a unifying pathological process. Theories discussed include a direct viral insult to the cochlear structures or even pressure-mediated damage to the basal cochlea due to the simultaneous inward displacement of the oval and round windows. The complete resolution of hearing loss is the indicator of a reversible etiology, possibly due to transient inner ear dysfunction secondary to middle-ear pathology or viral infection. Conclusions: This case illustrates the complexity of diagnosing acute mixed hearing loss. This report emphasizes a rare case of sudden-onset bilateral mixed hearing loss with a complete recovery, contributing valuable insight into under-reported and diagnostically complex presentations.

Background: Chronic suppurative otitis media (CSOM) is a leading disorder known for hearing loss. We aimed to investigate the associated determinant factors of CSOM with sensorineural hearing loss (SNHL). Materials and Methods: A prospective observational study of CSOM was conducted at a tertiary care university hospital from December 2020 to December 2022. The study included 149 patients of either gender and unilateral disease who presented to the otorhinolaryngology outpatient door. All subjects underwent clinical examinations and pure-tone audiometry. Bone conduction thresholds for both affected and nonaffected ears at audible frequencies were taken to determine sensorineural hearing loss. The intraoperative visibility of ossicular status was assessed through the operation recordings. Results: The mean age of the 79 males and 70 females was 26.54 ± 8.75 years. Sensorineural hearing loss was evidenced in 25.5% of cases; afterward, conductive and mixed hearing losses were found in 68.5% and 6% of individuals. It was found that females and the absence of cholesteatoma have a significant (P &lt; 0.05) association with SNHL, whereas hearing loss &gt;56 dB had a highly significant (P &lt; 0.001) association with SNHL. We investigated the relationship of SNHL with the status of ossicles. Similarly, incus was the most common ossicle erosion associated with SNHL (10.6%), which was statistically significant (P = 0.002). Conclusions: We found that ossicular status, cholesteatoma, and grade of hearing loss were statistically significant and were associated with sensorineural hearing loss in CSOM.

Brain Correlates of Verbal Working Memory in Children with Hearing Loss: Auditory Experience Matters

The prevalence of hearing loss increases with age in the general population. Of the more than 30 million Americans having severe hearing loss, only 20 % with hearing loss significant enough to warrant amplification actually seek assistance for amplification [1]. The severity of hearing loss may range (Table 2.1) from mild, wherein the individual only has difficulty in presence of significant background noise, to profound, wherein the patient is unable to understand and communicate even in the quietest of situations [2]. Patients with a mild loss do not require treatment other than instructions to choose or modify their acoustic environment and to reduce background noise, thereby improving their hearing experience. But patients with moderate to severe and profound hearing loss will require either surgery or some form of amplification to improve their hearing. Amplification with conventional hearing aids is offered when the patient has either a significant sensorineural component of hearing loss or when middle ear reconstruction with passive implants is not beneficial due to middle ear mucosal and tubal dysfunction. Conventional hearing aids are associated with several drawbacks, and so, researchers and otologists have been trying to devise implantable hearing devices for the past several decades.

Background: To assess and compare binaural benefits and subjective satisfaction of active bone conduction implant (BCI) in patients with bilateral conductive or mixed hearing loss fitted with bilateral BCI and patients with monaural conductive hearing loss fitted with monaural BCI. Methods: ITA Matrix test was performed both on patients affected by bilateral conductive or mixed hearing loss fitted with monaural bone conduction hearing implant (Bonebridge, Med-El) before and after implantation of contralateral bone conduction hearing implant and on patients with monaural conductive or mixed hearing loss before and after implantation of monaural BCI. The Abbreviated Profile of Hearing Aid Benefit (APHAB) questionnaire was administered to both groups of subjects and the results were compared with each other. Results: Patients of group 1 reported a difference of 4.66 dB in the summation setting compared to 0.79 dB of group 2 (p < 0.05). In the squelch setting, group 1 showed a difference of 2.42 dB compared to 1.53 dB of group 2 (p = 0.85). In the head shadow setting, patients of group 1 reported a difference of 7.5 dB, compared to 4.61 dB of group 2 (p = 0.34). As for the APHAB questionnaire, group 1 reported a mean global score difference of 11.10% while group 2 showed a difference of −4.00%. Conclusions: Bilateral BCI in patients affected by bilateral conductive or mixed hearing loss might show more advantages in terms of sound localisation, speech perception in noise and subjective satisfaction if compared to unilateral BCI fitting in patients affected by unilateral conductive hearing impairment. This may be explained by the different individual transcranial attenuation of each subject, which might lead to different outcomes in terms of binaural hearing achievement. On the other hand, patients with unilateral conductive or mixed hearing loss fitted with monaural BCI achieved good results in terms of binaural hearing and for this reason, there is no absolute contraindication to implantation in those patients.

The aim of this study is to appreciate the incidence of patients with isolated conductive hearing loss with normal drum due to superior semicircular canal dehiscence (SCD). It is a prospective radiological study. Two hundred and seventy-two patients with a normal drum suffering from isolated unilateral or bilateral conductive or mixed hearing loss were included in a prospective radiological study. A high resolution computerized tomography (HRCT) was performed in all the patients. Those who were found to have a unilateral or bilateral SCD underwent further etiological, clinical, audiologic evaluation. Ten patients with conductive or mixed hearing loss were found to have a unilateral or bilateral SCD. The disease was bilateral in five cases, and most often associated with a dehiscence of the tegmen tympani on both sides, supporting the theory of the congenital nature of the disease. There was no clear correlation between symptoms and the size of the SCD. Because patients were not suffering from incapacitating vestibular symptoms, they were not operated for surgical occlusion of the SCD, and were referred to a hearing aid specialist to improve hearing. Conductive or mixed hearing loss due to SCD is relatively frequent, justifying in our opinion that a systematic HRCT be carried out before surgery of any patient with conductive hearing loss.

Mucopolysaccharidosis type I/Hurler syndrome is an autosomal recessive disease caused by a deficiency of α-L-iduronidase activity. Recurrent middle ear infections and hearing loss are common complications in Hurler syndrome. Although sensorineural and conductive components occur, the mechanism of sensorineural hearing loss has not been determined. The purpose of this study is to evaluate the quantitative inner ear histopathology of the temporal bones of patients with Hurler syndrome. Eleven temporal bones from 6 patients with Hurler syndrome were examined. Age-matched healthy control samples consisted of 14 temporal bones from 7 cases. Temporal bones were serially sectioned in the horizontal plane and stained with hematoxylin and eosin. The number of spiral ganglion cells, loss of cochlear hair cells, area of stria vascularis, and cell density of spiral ligament were evaluated using light microscopy. There was no significant difference between Hurler syndrome and healthy controls in the number of spiral ganglion cells, area of stria vascularis, or cell density of spiral ligament. The number of cochlear hair cells in Hurler syndrome was significantly decreased compared with healthy controls. Auditory pathophysiology in the central nerve system in Hurler syndrome remains unknown; however, decreased cochlear hair cells may be one of the important factors for the sensorineural component of hearing loss.

Characterization of hearing loss in pediatric patients with osteogenesis imperfecta