Hearing and otopathology in Crouzon syndrome.

OBJECTIVES: To better establish the incidence and types of otologic and auditory abnormalities in patients with Crouzon syndrome. STUDY DESIGN: Retrospective chart review of the otologic and auditory findings of patients diagnosed with Crouzon syndrome who were seen at our institution between 1978 and 1994. METHODS: Charts were reviewed and data recorded on patient sex, family history, appearance, auricular abnormalities, auditory findings, history of otologic disease, and follow-up. RESULTS: Nineteen patients were identified with the diagnosis of Crouzon syndrome: 12 males and 7 females. Twelve cases represented spontaneous mutations. Eight patients had abnormalities involving the external ear: from malalignment of the pinna (6 patients) to external auditory canal atresia (1 patient). Ten patients had documented hearing loss: 4 with conductive hearing loss, 2 with a mixed hearing loss, and 4 with a sensorineural hearing loss, the etiologies of which ranged from ossicular fixation and serous otitis media to unknown sensorineural deficits. CONCLUSIONS: Patients with Crouzon syndrome can exhibit various pathological features of the ear. Although external malformations are unusual, middle ear disease and hearing loss are common. We advocate close otologic and audiologic follow-up in these patients and note a higher frequency of sensorineural hearing loss than previously reported. Recent genetic advances may allow more accurate and earlier diagnosis of this syndrome.     

Audiologic and otologic phenotype in children with Duane's Retraction Syndrome: A rare ophthalmologic disorder

ObjectiveThe focus of this study was to evaluate the prevalence, type, and severity of hearing impairment in patients with Duane's Retraction Syndrome and to relate these measures to patient demographics and other otologic and audiologic factors.Study designRetrospective AudGen Database analysisSettingTertiary academic referral centerPatientsPediatric patients in AudGenDB with a diagnosis of Duane's Retraction Syndrome (DRS).InterventionsAppropriate audiologic, otologic, and demographic data were recorded.Main outcome measureSeventy-nine patients (n = 79) met inclusion criteria. The first encounter with available audiometric data or the first encounter with hearing loss were documented. Audiograms were stratified by type and severity of hearing loss, and common associated medical issues were documented.Results57 children had normal hearing; 22 had hearing loss. 9 ears had pure conductive hearing loss, 1 had pure sensorineural, 14 ears had components of both, and 79 had hearing loss that could not be specified. Multivariate regression revealed episodes of chronic otitis and craniofacial anomalies are associated with worse hearing loss.ConclusionThis study presents a detailed characterization of hearing loss in patients with Duane's retraction syndrome. Conductive and sensorineural hearing loss are both prevalent among these children. Careful and early audiologic evaluation of all patients with DRS is important.     

Hearing loss in an institutionalized mentally retarded population. Identification by auditory brainstem response

We report the results of auditory brainstem response testing of 122 profoundly retarded institutionalized children, a segment of the retarded population heretofore generally regarded as untestable by behavioral audiometry. Major findings include: 32% of the study population showed, by auditory brainstem response, hearing loss exceeding 20 decibels of hearing level in one or both ears (12% showed conductive loss and 20% sensorineural loss); of the 15.6% with evidence of bilateral sensorineural loss, 7.37% had losses in the 30- to 50-dB range, and 8.19% had losses of 60 dB or greater; and evidence of abnormal brain-stem function was found in 11%. Results of otologic examinations and audiologic habilitative follow-up in selected children are also reported.     

Hearing loss after head injury

Sixty head injury patients were evaluated for hearing loss; ten underwent ABER testing. Forty percent of the cases had hearing loss of different degrees. The audiometric pattern was variable in the different types of injuries, although the incidence of conductive deafness was quite low (5%). In most of the cases of sensorineural hearing loss, the end organ was implicated. Recruitment was demonstrated in the ABERs, as well as in the retrocochlear lesions, by studying the IPLs present.     

Penetrating middle ear trauma: a report of 2 cases

Penetrating middle ear injury can result in hearing loss, vertigo, and facial nerve injury. We describe the cases of 2 children with penetrating trauma to the right ear that resulted in ossicular chain disruption; one injury was caused by cotton-tipped swabs and the other by a wooden matchstick. Symptoms in both children included hearing loss and otalgia; in addition, one child experienced ataxia and the other vertigo. Physical examination in both cases revealed a perforation in the posterosuperior quadrant of the tympanic membrane and visible ossicles. Audiometry identified a moderate conductive hearing loss in one child and a mild sensorineural hearing loss in the other. Both children underwent middle ear exploration and reduction of a subluxed stapes. We discuss the diagnosis, causes, and management of penetrating middle ear trauma. To reduce the morbidity associated with these traumas, otologic surgeons should act promptly and be versatile in choosing methods of repairing ossicular chain injuries.     

Hearing in patients with Paget’s disease

Paget’s disease has been reported in several uncontrolled studies to cause hearing loss, either sensorineural, conductive or mixed in type. No study has established convincing evidence of a connection between Paget’s disease of the skull and hearing loss. The aim of this study was to compare the hearing in patients with Paget’s disease and controls, and to identify any link between hearing loss and skull involvement. Patients with biochemically confirmed Paget’s disease (n = 100) were examined and had pure-tone audiometry and a skull radiograph. A group of hospital controls (n = 50) was recruited from a physiotherapy department. The hearing in the Paget’s patients was also compared with population controls from the MRC National Study of Hearing. Analysis of co-variance was performed to control for age, gender, occupational group and noise exposure. The results show a significant effect of Paget’s disease at all frequencies (maximal at 2000, 4000 and 8000 Hz), in both better (effect size 6.8 dB, SE 1.2) and poorer (effect size 7.4 dB, SE 1.6) ear, on bone conduction as well as air conduction thus showing the hearing loss to be sensorineural. Sub-division of the Paget’s patients into those with and those without radiological evidence of Paget’s in the skull showed that the group with skull involvement were statis tically different (P < 0.01) from both clinic and population controls, while the group with no evidence of skull involvement showed no such effects. Patients with Paget’s disease of the skull show evidence of sensorineural but not conductive hearing loss, while those without demonstrable skull involvement have hearing thresh olds similar to control groups.     

The tuning fork--an essential instrument in otologic practice

Two groups of people are critical of the tuning fork--those who have never used them and those who do not know how to use them. The tuning fork correctly used is still a dependable method of diagnosing conductive hearing loss and invaluable in the diagnosis of unilateral total sensorineural hearing loss. The degree of conductive loss can be estimated by using tuning forks of 256 through 1024 frequency. These statements are based on the results of this study in which tuning fork tests were performed on a series of patients who subsequently underwent complete otologic examination and audiometry. The method of tuning fork use, the value particularly in the diagnosis of conductive hearing loss, and the tuning fork's limitations are discussed.     

Otologic manifestations of malignant osteopetrosis.

OBJECTIVE: To determine the incidence of hearing loss and describe the neurotologic manifestations over time in a large series of patients with malignant osteopetrosis. STUDY DESIGN: Longitudinal study. SETTING: Tertiary care referral center. PATIENTS: Thirty-two patients, including 19 infants (< 1 yr of age at initial visit) and 13 children (aged 1-7.6 yr at initial visit), with autosomal recessive osteopetrosis were followed-up during a 10-year period from 1991 to 2001. The average length of follow-up was 2.5 years (range, 0-9.1 yr). INTERVENTIONS: Patients underwent annual otologic evaluations including clinical examination, audiologic evaluation (auditory brainstem response, pure-tone thresholds, speech discrimination scores, and tympanograms), and high-resolution computed tomography of the temporal bone. MAIN OUTCOME MEASURES: Incidence of hearing loss, otitis media, and facial paralysis. Serial changes in temporal bone anatomy by computed tomographic scan. RESULTS: Twenty-six percent of infants' ears demonstrated hearing loss during the first year of life, and 78% of children's ears demonstrated hearing loss during the study period. Of the children's ears with hearing loss, 100% had a conductive component and 26% had an additional sensorineural component (mixed hearing loss); VIIIth nerve conduction was normal in 100% of infants and 78% of children. Five patients (16%) had unilateral facial nerve palsy. Common temporal bone findings included thickening and sclerosis of the calvarium; poor pneumatization of the mastoid bone; and narrowing of the external auditory canal, eustachian tube, and internal auditory canal. CONCLUSION: Otologic manifestations are common in malignant osteopetrosis secondary to the formation of dense, brittle bone. Frequent findings include external auditory canal stenosis, otitis media, conductive and sensorineural hearing loss, and facial nerve paralysis.     

Applications of magnetic resonance imaging in otology

Magnetic resonance (MR) has been employed for the study of patients with peripheral and retrolabyrinthine otologic pathology. Its usefulness has been compared with that of computed tomography (CT). CT remains at present the best study for the assessment of patients with conductive hearing loss and sensorineural hearing loss or vestibular disorders of the peripheral type. However, MR is the study of choice of retrolabyrinthine pathology occurring in the internal auditory canals, cerebellopontine cisterns, and brainstem.     

Prevalence of hearing loss in children with 22q11.2 deletion syndrome

ObjectiveThe purpose of this study was to determine the prevalence and characterize the types of hearing loss in pediatric patients with 22q11.2 deletion syndrome (22q11DS).MethodsFifty-eight patients were identified via retrospective chart review performed of patients with 22q11DS between 1996 and 2014. Patient demographics, pertinent family history, associated comorbidities, and degree and type of hearing loss were gathered for each patient. A literature review of the National Library of Medicine's database with a focus on hearing loss and 22q11DS was performed.Results22 patients (38%) were found to have hearing impairment: 68% with conductive hearing loss, 14% with sensorineural hearing loss, and 18% with mixed hearing loss. Patients with hearing loss regardless of type had a higher prevalence of developmental delay (55%), cleft palate (23%), articulation disorders (77%), and a greater need for tympanostomy tubes (73%) compared to patients with normal hearing. Temporal bone computed tomography scans of 5 patients revealed a variety of abnormalities in the middle and/or inner ears.ConclusionHearing impairment occurs in up to 38% of 22q11DS patients of both conductive and sensorineural types, with the conductive type being the most common. These patients have a greater need for tympanostomy tubes and a higher prevalence of developmental delay and speech articulation disorders. Early hearing screening and treatment is warranted in this population.     

The active middle ear implant for the rehabilitation of sensorineural, mixed and conductive hearing losses

Active middle ear implants, such as the Vibrant Soundbridge, are used as an important part in the rehabilitation of sensorineural, conductive hearing, or mixed hearing loss. The attachment of the Vibrant Soundbridge at the round window and the usage of the Vibroplasty couplers strongly expanded the application of the Vibrant Soundbridge.The Vibrant Soundbridge is developed for patients who have an intolerance to hearing aids and a moderate to profound sensorineural hearing loss. The VSB also provides an optimal solution for patients with failed middle ear reconstructions or patients with atresia. To capture the improvement with the VSB Implant with different hearing losses a literature analysis was conducted. The functional gain was analyzed for 107 patients with conductive hearing loss and for 214 patients with sensorineural hearing loss out of 14 studies.Patients with conductive and mixed hearing loss resulted in a functional gain from 30 to 58?dB with the VSB. Patients with a pure sensorineural hearing loss showed a functional gain of 23-30?dB. The VSB bone conduction threshold shift was analyzed for all studies conducted in the years between 2000 and 2009. In 11 of the 16 studies there was no significant (p=0.05) change found. In 5 studies, the pre- to post-surgical bone conduction threshold shift was less than 10?dB. None of these studies measured a threshold shift of more than 10?dB.The flexible attachment at either the long process of the incus with sensorineural hearing loss, with an conductive hearing loss at the round window or the use of Vibroplasty couplers at the oval window, head of the stapes or round window makes the VSB an extremely versatile instrument. If patients can't wear conventional hearing aids, had failed middle ear reconstructions or atresia the VSB presents, due to the significant hearing improvement in any type of hearing loss, an ideal solution.     

Otologic and audiologic features of Nager acrofacial dysostosis

OBJECTIVE: To describe the otologic and audiologic characteristics of pediatric patients with Nager acrofacial dysostosis. DESIGN: Retrospective case series. SETTING: Multidisciplinary clinic in a tertiary care children's hospital. SUBJECTS: Patients less than 18 years of age with Nager acrofacial dysostosis. METHODS: Nager syndrome is a mandibulofacial dysostosis associated with preaxial limb abnormalities and multiple craniofacial anomalies. Ten patients with Nager syndrome were reviewed. Relevant literature, 1966 to the present, was reviewed with the assistance of Medline. RESULTS: External and middle ear abnormalities are common in Nager syndrome. All non-atretic ears had significant difficulty with otitis media, requiring an average of two sets of tympanostomy tubes. Cholesteatoma was diagnosed in one patient. Pure conductive hearing loss was identified in eight patients with mixed hearing loss noted in two patients. Conductive hearing loss greater than 30 dB HL was noted in 90% (9/10) of patients, with 40% (4/10) having 55-70 dB HL loss. Although amplification was effective, results of surgical interventions to correct conductive hearing loss were inconsistent. Two patients with mixed hearing loss developed the sensorineural component in later childhood, indicating that progressive or fluctuating sensorineural hearing loss is also possible in this population. CONCLUSIONS: Pediatric patients with Nager acrofacial dysostosis exhibit conductive hearing loss due to middle and external ear pathology. Prolonged ventilation of the middle ear via tympanostomy tubes and amplification with hearing aids are often required. Some patients also demonstrate mixed hearing loss that may be progressive and should be monitored carefully. Early and aggressive management in a multidisciplinary team approach is recommended.     

Human leukocytic antigens in autoimmune sensorineural hearing loss

Susceptibility to many autoimmune diseases is associated with inheritance of certain Human Leukocytic Antigens (HLA), determinants which have become diagnostic or prognostic markers. In this study of HLA antigen frequencies among patients with autoimmune sensorineural hearing loss, 39 patients with this otologic disorder were typed for HLA-A, B, C, and DR antigens. A significant increase of Cw7 occurred in 51% of patients compared to 21% of 627 matched controls (relative risk, 3.95). Trends towards increased frequencies of Cw4, B35 and reduced frequency of DR4 were also observed. These data suggest a possible immunogenetic predisposition to this otologic disorder. The presence of Cw7 may facilitate the diagnosis of autoimmune sensorineural hearing loss.     

Quantitative and qualitative follow-up outcomes from a preschool audiologic screening program: perspectives over a decade

PURPOSE: This investigation reports on quantitative and qualitative follow-up information obtained from a preschool audiologic screening program covering a 10-year period (1995 to 2004). METHOD: The audiologic screening consisted of a hearing (pure tone) and tympanometry screening. A total of 34,979 children, 3 to 5 years of age, were screened. RESULTS: Eighteen percent (6,337) of the children were referred for further hearing and/or medical ear evaluation. Of 1,421 follow-up responses received, 93% complied with the follow-up recommendations while 7% did not. Of 1,316 children in the follow-up group, outer and/or middle ear disorder in one or both ears was medically confirmed for 37%. Unilateral or bilateral hearing loss was diagnosed in 18% as conductive (12%), sensorineural (1%), mixed (0.4%), or unspecified (5%). Overall, hearing loss and/or otologic disorder was confirmed in 49% of the follow-up group, suggesting a prevalence of 1.8% in a preschool-age population. A small (n = 32) sample of unsolicited comments indicated that physicians most influenced noncompliance with hearing evaluation follow-up. CONCLUSIONS: The quantitative hearing and otologic follow-up outcome data affirm the importance of audiologic screening in the preschool population. Qualitative data suggest that some physicians may not be advocating appropriate screening follow-up services.     

Audiological findings following head trauma

Traumatic head injury is the principal cause of death and serious physical disability in adolescents and young adult. Hearing loss is a common sequela of head trauma. The results of pure tone and auditory brain-stem response (ABR) assessment of minor head injury revealed that 20 per cent of these cases showed impairment of hearing including both conductive and sensorineural hearing loss mostly in the high frequencies loss. ABR findings showed a significant difference of absolute wave V latency and interwave (III-V) latencies at repetition rate 11.1 click/sec., and a highly significant difference at a repetition rate of 51.1 click/sec., compared with the control group. In severe head injury, conductive hearing loss was found in only one case, in which a longitudinal fracture of the temporal bone was identified radiologically. No ABR could be recorded at a repetition rate of 11.1 click/sec. in either ear of this case; this patient died a few days later. Three cases were found with a mixed sensorineural hearing loss; one of them showed a longitudinal fracture radiologically. ABR findings in two cases showed prolongation of wave V and I-V interwave latencies, and the third case showed absence of ABR recording. In comatose patients, an ABR grading system is a more sensitive index of brainstem dysfunction than the simple division of normal versus abnormal ABR waves and interwave latencies. Presence or prolongation of wave V and interwave latency I-V even in one ear is of good prognostic value in the comatosed patient.     

Osteogenesis imperfecta. A study of 160 family members.

Osteogenesis imperfecta, a genetic disease characterized by blue sclera, fragile bones, and hearing loss, was studied in 160 descendants of a single, affected individual. One hundred twenty family members in four generations were at risk of inheriting the gene for osteogenesis imperfecta. Fifty-six percent (68/120) had blue sclera, and, of this group, 66% had fragile bones, and 47% of those tested had hearing loss. The onset of hearing loss was usually in the second or third decade, and was primarily of the conductive type. The incidence of sensorineural hearing loss was only slightly less than the incidence of conductive hearing loss. To out knowledge, this is the largest reported kindred study of osteogenesis imperfecta. The genetic transmission of this disease as an autosomal dominant was confirmed.     

Middle ear effusion as infrequent cause of sensorineural hearing loss

Middle ear efussion (MEE) is the most frequent condition related to conductive hearing loss in children, being rarely the cause of sensorineural hearing loss (SNHL). We present a 5-years-old child without know previous otologic disease who developed MEE with a very adversely effect on hearing. Hearing tests showed a bilateral moderate-severe neural impariment. The patient were programmed for grommet insertion. Hearing showed a total audiometric recovery three months after surgery. To sum up, MEE can be rarely associated with SNHL.     

Temporal bone pathology of adult-type osteopetrosis

We present the pathologic features in the temporal bones of a 62-year-old woman with the adult benign form of osteopetrosis. Most of the bony tissue was expanded by dense lamellar bone, with, in some places, the presence of residual calcified cartilage. In the otic capsule, globuli interossei were greatly increased in number. The ossicles were enlarged with fixation of the stapes. Narrowing of mastoid air cells, the internal auditory meati, and eustachian tubes was present, the latter associated with chronic otitis media. The bone deposition in the ossicles contributed to the conductive hearing loss, which was a prominent feature in this patient's otologic findings. The narrowing of the internal auditory meati may similarly have contributed to a degree of sensorineural hearing loss.     

Idiopathic sudden sensorineural hearing loss is not an otologic emergency.

OBJECTIVE: To investigate whether delay in treatment has any influence on the audiometric outcome at Day 30 in idiopathic sudden sensorineural hearing loss. STUDY DESIGN: Prospective study. SETTING: Otorhinolaryngologic emergency center in Paris, France. PATIENTS: Three hundred forty-seven consecutive cases of sudden sensorineural hearing loss were examined. A neurologic or retrocochlear cause was revealed in 17 cases. Four additional cases were lost for follow-up. Three hundred twenty-six cases of "idiopathic" sensorineural hearing loss seen within 7 days of onset were enrolled and classified by type according to five audiogram shapes: low tone (Type A), flat (Type B), high tone (Type C), cup-shaped (Type D) or total or subtotal (Type E). Because of loss for follow-up, the hearing outcome at 1 month could be evaluated in only 249 cases. INTERVENTION: All 326 patients were given 1 mg/kg per day corticosteroids intravenously for 6 days and 500 ml mannitol 10% in the subgroup presenting ascending audiometric shape. MAIN OUTCOME MEASURES: The following parameters were used. The first parameter was hearing recovery (initial PTA-PTA at Day 6 or Day 30). It was considered as complete if final PTA was below 25 dB. The second parameter was incidence of hearing recovery based on the following formula: (initial PTA-PTA on a given test day)/(initial PTA) x 100%. Using regression analysis and ANOVA, the audiometric outcome was analyzed at Day 6 and Day 30 as a function of the day of onset of treatment and of the audiometric type. RESULTS: Whatever the audiometric type, there was no significant difference in final outcome whether the treatment was started within the first 24 hours or within the first week. CONCLUSIONS: Delay in initiating treatment does not appear to influence the final degree of hearing loss. Idiopathic sudden sensorineural hearing loss cannot be considered as an otologic emergency.