Aniridia and deafness: an inherited disorder

1990 ◽  
Vol 104 (5) ◽  
pp. 419-420 ◽  
Author(s):  
R. G. Courteney-Harris ◽  
R. P. Mills

AbstractA previously unreported association between aniridia and congenital sensorineural deafness is reported in a family in which the father and one child possess the combination of abnormalities. One of the remaining two children also has a congenital sensorineural hearing loss without any occular abnormalities.

1993 ◽  
Vol 21 (4) ◽  
pp. 192-196 ◽  
Author(s):  
Aytac Saraçaydin ◽  
Sedat Katircioğlu ◽  
Sami Katircioğlu ◽  
M Can Karatay

A total of twelve patients with a relatively uncommon form of progressive sensorineural deafness (autoimmune innerear disease) were treated orally with 1 mg/kg azathioprine, once daily, and with 30 mg prednisolone, every other day, for 4 weeks. Statistically significant increases in the ability to hear pure tones or in discrimination on audiometry took place in 10/12 patients. This condition was initially described as ‘sensorineural hearing loss', but it is now clear that the term ‘autoimmune inner-ear disease’ is more appropriate since the vestibular compartment as well as the cochlear compartment is involved. This relatively uncommon disease is one of the few forms of sensorineural deafness that can be successfully treated.


2021 ◽  
Vol 20 (5) ◽  
pp. 63-67
Author(s):  
S. V. Surma ◽  
◽  
D. S. Klyachko ◽  
B. F. Shchegolev ◽  
E. A. Ogorodnikova ◽  
...  

The article shows that one of the alternative methods of treating moderate to severe sensorineural hearing loss can be the use of an external weak magnetic field. The proposed method is based on the coincidence of the effects caused by the exposure of an external electromagnetic field of certain parameters on the auditory nerve, and natural acoustic exposure. The similarity of reaction allows using of external magnetic fields as an artificial stimulator of the auditory system’s neural part. Induction of applied magnetic fields does not exceed 300 µT, which means that under the current legislation such fields are classified as posing no health hazard. This method was tested at Saint Petersburg Research Institute of Ear, Throat, Nose, and Speech based on relevant Ethics Committee approval and complied with informed consent standards of volunteers. 15 patients aged 18 to 45 with III and IV levels of sensorineural deafness without concomitant pathologies were tested. Threshold pure-tone audiometry was performed on each patient at 500, 1000, 2000, 3000, and 4000 Hz before and after the procedure. The results of the experiments showed that electromagnetic stimulation of auditory neurons allows increasing hearing sensitivity. The proposed procedure may not yield a tangible result in patients with auditory deprivation. Patients with hearing aids showed the most significant results. At the same time, the measurements have shown that the sound thresholds among them became 10 dB lower on the average. The non-invasiveness of the exposure provided additional comfort for the patient.


Brain ◽  
2020 ◽  
Vol 143 (8) ◽  
pp. 2380-2387 ◽  
Author(s):  
Alisdair McNeill ◽  
Emanuela Iovino ◽  
Luke Mansard ◽  
Christel Vache ◽  
David Baux ◽  
...  

Abstract The SLC12 gene family consists of SLC12A1–SLC12A9, encoding electroneutral cation-coupled chloride co-transporters. SCL12A2 has been shown to play a role in corticogenesis and therefore represents a strong candidate neurodevelopmental disorder gene. Through trio exome sequencing we identified de novo mutations in SLC12A2 in six children with neurodevelopmental disorders. All had developmental delay or intellectual disability ranging from mild to severe. Two had sensorineural deafness. We also identified SLC12A2 variants in three individuals with non-syndromic bilateral sensorineural hearing loss and vestibular areflexia. The SLC12A2 de novo mutation rate was demonstrated to be significantly elevated in the deciphering developmental disorders cohort. All tested variants were shown to reduce co-transporter function in Xenopus laevis oocytes. Analysis of SLC12A2 expression in foetal brain at 16–18 weeks post-conception revealed high expression in radial glial cells, compatible with a role in neurogenesis. Gene co-expression analysis in cells robustly expressing SLC12A2 at 16–18 weeks post-conception identified a transcriptomic programme associated with active neurogenesis. We identify SLC12A2 de novo mutations as the cause of a novel neurodevelopmental disorder and bilateral non-syndromic sensorineural hearing loss and provide further data supporting a role for this gene in human neurodevelopment.


2018 ◽  
Vol 01 (02) ◽  
pp. 089-093
Author(s):  
Raghul Sekar ◽  
Arun Alexander ◽  
Nagarajan Krishnan

Abstract Background Sensorineural hearing loss is a condition with several etiologies and varies with the age of the individual. Carotid–cochlear interval is the minimum distance between basal turn of cochlea and the genu of petrous part of internal carotid artery. It is believed that constant pulsations from carotid can cause fluid pressure changes within the cochlea leading to damage to hair cells causing hearing loss. Objective To study the correlation between carotid–cochlear interval and degree of hearing loss at different frequencies in patients with sensorineural deafness and compare this interval with normal subjects. Methods Seventy cases with sensorineural hearing loss between 18 and 60 years undergoing HRCT temporal bone were grouped together and 70 cases with normal hearing undergoing CT nose and paranasal sinuses were grouped together. Carotid–cochlear interval measured in both the groups was correlated with the degree and frequency of hearing loss and compared with normal subjects. Results The mean carotid–cochlear interval in sensorineural hearing loss and in normal subjects was found to be 1.30 + 0.68 (SD) mm and 1.83 + 0.74 (SD) mm, respectively with p < 0.001. The coefficient of correlation between carotid–cochlear interval and pure tone average in patients with sensorineural deafness was r = −0.740 with p-value < 0.001. Conclusion Carotid–cochlear interval is significantly low in patients with sensorineural hearing loss and bears a strong negative correlation with the degree of hearing loss at mid- and high-frequency ranges. Thus we hypothesize that pulsations from carotid artery cause damage to hair cells in the organ of Corti producing audiological symptoms such as hearing loss.


2019 ◽  
Vol 18 (2) ◽  
pp. 98-105
Author(s):  
N. V Prisyazhnaya ◽  
A. S Zhuravlev ◽  
N. Yu Viatkina

Health is the fundamental value of every individual, and its violations, especially those that are burdened by risk of disability, are the key factor of reducing quality of life of individual. The extent of prevalence of hearing impairment in population, accompanied by multiple problems in organization of social, professional and family life of patients, determines high social importance of the issue. The article presents results of medical and sociological study (focus group) of quality of life of patients with diagnosis "sensorineural hearing loss" (as exemplified by patients of Moscow multi-field hospital). The onset of disease, in addition to problems of physical well-being (pain, dizziness, disorientation, etc.) causes person sensorineural hearing loss reducing quality of life, and, above all, resulting in multiple communication problems at the level of everyday personal and social interaction. Despite the fact that the study participants believe that there is no negative attitude and stigma towards people with hearing loss among Russians, the respondents noted prevalence of general intolerant attitude towards disabled people. The widespread of sensorineural hearing loss among able-bodied population is accompanied with low level of public awareness of principles of prevention of hearing loss, the need for timely corresponding treatment, as well as peculiarities of interaction with people suffering hearing loss. The majority of respondents indicate high ability to work with adequate treatment and selection of hearing device and make adjustments to organization, and the support of family and working community.


2015 ◽  
Vol 129 (4) ◽  
pp. 321-325 ◽  
Author(s):  
D Siau ◽  
B Dhillon ◽  
R Andrews ◽  
K M J Green

AbstractObjectives:This study aimed to report the bone-anchored hearing aid uptake and the reasons for their rejection by unilateral sensorineural deafness patients.Methods:A retrospective review of 90 consecutive unilateral sensorineural deafness patients referred to the Greater Manchester Bone-Anchored Hearing Aid Programme between September 2008 and August 2011 was performed.Results:In all, 79 (87.8 per cent) were deemed audiologically suitable: 24 (30.3 per cent) eventually had a bone-anchored hearing aid implanted and 55 (69.6 per cent) patients declined. Of those who declined, 26 (47.3 per cent) cited perceived limited benefits, 18 (32.7 per cent) cited reservations regarding surgery, 13 (23.6 per cent) preferred a wireless contralateral routing of sound device and 12 (21.8 per cent) cited cosmetic reasons. In all, 32 (40.5 per cent) suitable patients eventually chose the wireless contralateral routing of sound device.Conclusion:The uptake rate was 30 per cent for audiologically suitable patients. Almost half of suitable patients did not perceive a sufficient benefit to proceed to device implantation and a significant proportion rejected it. It is therefore important that clinicians do not to rush to implant all unilateral sensorineural hearing loss patients with a bone-anchored hearing aid.


2021 ◽  
Vol 12 ◽  
Author(s):  
Wenwen Xia ◽  
Hui Yan ◽  
Yiyuan Zhang ◽  
Congcong Wang ◽  
Wei Gao ◽  
...  

Human cytomegalovirus (HCMV) is the primary cause of congenital infections. Despite its clinical significance, congenital HCMV infection is frequently overlooked clinically since most affected infants are asymptomatic. Sensorineural hearing loss (SNHL) is one of the most widely known disorders caused by congenital HCMV infection. The potential mechanism, however, remains unknown to date. The mechanism by which congenital HCMV infection induces sensorineural deafness has been partly characterized, leading to advancements in diagnosis, therapy, and prevention strategies. HCMV-induced hearing loss primarily involves immune responses, the release of inflammatory factors by natural killer (NK) cells, apoptosis of cochlear spiral ganglion, and potential changes due to vascular dysfunction. The diagnosis of HCMV induced SNHL includes serological examination to mothers, imaging, and amniotic fluid examination. Ganciclovir, mainly used for antiviral therapy and behavioral prevention, can, to some degree, prevent congenital HCMV infection. The role of HCMV infection in hearing loss needs further investigation since the mechanism of hearing loss caused by cytomegalovirus infection is not well understood. Although some advancement has been made in diagnosing and treating SNHL, more improvement is needed. A comprehensive understanding of cytomegalovirus’s pathogenesis is of key importance for preventing, diagnosing, and treating SNHL.


Author(s):  
Victor Pysanko ◽  
Tetiana Kholodenko ◽  
Iryna Sapizhak ◽  
Larisa Kud

Introduction: The world community is concerned with the assessment of the speech and hearing development of children with sensorineural deafness after cochlear implantation, since the most important result of rehabilitation is the success of social integration of such children. In most countries of the world, the Meaningful Auditory Integration Scale (MAIS) and the Meaningful Use of Language Scale (MUSS) are used to assess the auditory and language integration of children with sensorineural hearing loss after cochlear implantation (CI). Unfortunately, in Ukraine there are still no Ukrainian questionnaires for assessing the auditory development of children with sensorineural hearing loss after cochlear implantation. The aim of our study was to translate MAIS and MUSS manuals into Ukrainian, to adapt and validate them culturally. Materials and methods: Materials for translation and cultural adaptation were English-language versions of the Meaningful Auditory Integration Scale (MAIS) and Meaningful Use of Language Scale (MUSS), developed by the Nottingham Group of Cochlear Implantation, which are recognized and recommended for use by all cochlear implant manufacturers. Results obtained: The evaluation consisted of the following stages: preparatory stage – collection and analysis of literature; translation of original texts from English into Ukrainian; reversed translation by an independent translator of Ukrainian text into English; collation of the translation and comparison with the original questionnaire by an independent linguist; Cognitive analysis; field-testing of textbooks translated into Ukrainian with a small group of children after the CI; corrections, final revision of translations to identify and correct any grammatical, orthographic and other errors. The Ukrainian version of the questionnaire demonstrated a high level of internal compliance, testability and validity. Conclusions: Given the considerable relevance and demand ability of the materials, the tests can be recognized as valid and recommended for use in cochlear implant rehabilitation process.


2019 ◽  
Vol 8 (1) ◽  
pp. 39-42
Author(s):  
Alexander Zinchuk ◽  
Nadiya Prykuda

Introduction. Lyme borreliosis (LB) is endemic spirochetosis with a transmission mechanism, which is often marked by a durable, recurrent course with multiple organ damages. LB is characterized by the appearance of migrating erythema at the site of tick bite. Durable persistence of the agent promotes disease progressing and occurrence of serious complications related to the nervous system, the heart and the locomotive apparatus. Among infrequent and especially dangerous complications of LB is damage to the hearing apparatus with the development of sensorineural deafness – hearing loss, which develops within 24 hours due to function impairment of the internal ear or auditory nerve. That infectious diseases account for 12.8-13% of numerous causes of sensorineural deafness development. Most frequently, the disease caused by B. burgdorferi is mentioned. Aim. To analyze the clinical case of Lyme borreliosis complicated by the sensorineural hearing loss. Materials and methods. The analysis of clinical-laboratory and instrumental data of the patient with Lyme borreliosis, whose course of the disease was complicated by sensorineural hearing loss. The patient received care at Lviv Regional Infectious Diseases Clinical Hospital (LRIDCH). Results. The article presents a clinical case of Lyme borreliosis, complicated by sensorineural hearing loss, which appeared on the 15th day from the onset of erythema annulare in the patient. Hearing recovery in the patient could not be achieved via administration of etiotropic treatment (2.0 g/per day of ceftriaxone for 28 days), which was likely associated with late visit of the patient for medical aid. Conclusions. Sensorineural hearing loss is one of the rare, but severe lesions of auditory analyzer in LB. Hearing improvement after antibiotic therapy is possible in certain cases in early treatment.


2021 ◽  
pp. 135-139
Author(s):  
V. H. Tudosy ◽  
I. K. Churpiy ◽  
L. I. Voychyshyn ◽  
O. M. Zastavna ◽  
N. R. Golod ◽  
...  

The article considers research methods and features of the functional state of the vestibular apparatus and vestibular disorders in children with sensorineural hearing loss. We used the methods of analysis, generalization and systematization of data from domestic and foreign literature sources on methods of studying the vestibular apparatus in children with sensorineural hearing loss. It was determined that the function of balance and coordination of movements is one of the most complex, and consists of several analyzers - visual, vestibular, proprioceptive and tactile. When studying the physical development of children with this pathology, attention is paid to the formation of the main static-dynamic and coordination capabilities according to the age of the child. In children with congenital sensorineural deafness, and especially double deafness, there are signs of vestibular insufficiency and impaired translational control, movement and gait. This affects the development of gross motor functions, such as sitting and walking, to a lesser extent affects fine motor skills, if there are no layers of other pathologies of the central nervous system. The pathological process in the auditory analyzer changes the function of the vestibular apparatus, due to their close location in the labyrinth and innervation by one cranial nerve, and in turn changes in the vestibular apparatus contribute to the formation of motor disorders. Therefore, we can observe a certain general principle of operation of the auditory and vestibular systems. At children who have low vestibular stability any turns, inclinations, sharp change of a direction of movement causes imbalance of coordination and balance of movements. All these delays in physical development, according to many authors, are cumulative in character and are caused by the hearing defect itself, insufficient information from the environment, difficulty expressing thoughts and desires verbally, as well as the state of the motor analyzer and vestibular activity. Children with hearing impairment have an insufficient level of coordination development, physical development, static and dynamic balance, spatial orientation. Researches of the vestibular apparatus, namely the functions of coordination and balance are carried out in several categories: the research of tonic vestibular reactions, coordination of movements and static and dynamic balance. Researches of tonic vestibular reactions are performed on the following tests: the test with outstretched arms, Vodak-Fisher test, pointing test Barani, finger-nose test, Holmagi test. Researches of static and dynamic equilibrium are carried out on the samples of Romberg, Grahe, Oppenheim, walking in a straight line. When analyzing these samples, we can talk about the degree of violation of coordination and stato-dynamic balance. As a result of vestibular compensation, children with sensorineural deafness can catch up with their peers with normal hearing with the help of visual and somato-sensory systems, pyramidal and extra-pyramidal systems.


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