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Hearing Aids Inside Out

Hearing Aids Inside Out

Have you recently experienced hearing loss? Most probably you need hearing aids, but don't know much about them. To learn everything you need to know about hearing aids, read the eBook, Hearing Aids Inside Out. The book comprises 113 pages of excellent content utterly free of technical jargon, written in simple language, and in a flowing style that can easily be read and understood by all.

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Breaking The Sound Barriers

Living with a deaf child is one of the hardest things that you will ever deal with in your life; the barriers to their learning and potential happiness can seem like you will never cross them. However, it is easier than you thing to learn how to communicate with your deaf child on a level that you both are able to understand. This ebook guide is designed to teach you how to truly communicate with your child so that it minimizes frustration for both of you, and allows you child to learn at a much higher level than almost anyone would have believed. You will also hear the success stories of deaf children that have gone on to achieve amazing success in their lives. Having a deaf child is a blessing, not a curse. This guide will show you how best to love and care for your child!

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Superior Semicircular Canal Dehiscence Mimicking Otosclerotic Hearing Loss

A puzzling aspect of middle ear surgery is the presence of an air-bone gap in a small number of cases with no apparent cause. We believe that some of these cases are due to unrecognized superior semicircular canal dehiscence (SSCD). We have now gathered experience from 20 patients with SSCD presenting with apparent conductive hearing loss without vestibular symptoms. All affected ears had SSCD on high-resolution CT scan. The common findings in these patients were (1) the air-bone gaps occurred in the lower frequencies below 2,000 Hz, and ranged from 10 to 60 dB (2) bone conduction thresholds below 2,000 Hz were sometimes negative ( 5dB to 15 dB) (3) the acoustic (stapedial) reflex was present (4) measurement of umbo velocity by laser Doppler vibrometry showed slight hypermobility of umbo motion (5) the vestibular-evoked myogenic potential response was present, with thresholds that were abnormally low, and (6) the middle ear was normal at exploratory tym-panotomy, including normal...

Cochlear Implantation in Otosclerotic Deafness

The otosclerotic process commonly involves the otic capsule and may cause quite widespread demineralisation which leads to a progressive and often profound bilateral sensorineural hearing loss. In this situation cochlear implantation may be the only effective treatment. This chapter considers the pathology of this hearing loss, the effects of cochlear obliteration on implantation, and the effects of demineralisation of the otic capsule on placement of the electrode and nonauditory stimulation. A study is reported from 4 cochlear implant centres in the UK and the Netherlands of 53 patients with cochlear otosclerosis who received cochlear implantation. The CT features of their petrous bones are presented and a classification of the radiological features suggested. 38 of patients experienced facial nerve stimulation presumably due to spread of current through an otic capsule with lower than usual electrical impedance. The most common rogue electrodes were in the proximity of the...

Sudden Deafness and Autoimmune Inner Ear Disease Treatment Results

Nineteen patients were treated for sudden deafness. Five of the patients had a positive response to the self-administered dexamethasone. It appeared that patients treated early in the disease had better results, although one patient had a good response after more than 1 year. There was no statistically significant difference between patients treated in less than 4 weeks after their hearing loss and those who had a more than 4-week delay before treatment. Only three patients were treated for autoimmune inner ear disease and the results were inconclusive.

Conductive Hearing Loss

Blood Clot Ear Canal

Conductive hearing loss can result from injury to the middle ear with or without temporal bone fracture. Often the injury causes bleeding from the external auditory canal skin. If CSF otorrhea also is present, the clot should be left alone to form a natural biologic dressing as the CSF leak usually stops spontaneously (see below). If no leak is present, under appropriate magnification blood can be gently cleaned in an attempt to delineate if the source of bleeding is the external or middle ear. Debris, cerumen, keratin, and hair should be removed. The membrane may be perforated, or it may be intact with blood accumulation in the middle ear (hemo-tympanum). Within the middle ear, ossicular discontinuity or fracture occurs in 30 of patients with tympanic membrane lacerations. Even if the tympanic membrane is torn, the majority of tympanic membrane perforations will heal spontaneously, most within 6 weeks and nearly all the rest within 12 weeks. If hemotympanum is noted on examination,...

Aminoglycoside Induced Deafness

Aminoglycoside antibiotic-induced ototoxicity is a major cause of irreversible deafness in many parts of the world (134,135). In China, because of the widespread use of aminoglycosides, in some areas, up to 25 of the cases of deafness were found to be caused by aminoglycosides (136). The pathogenesis of aminoglycoside-induced ototoxicity is divided into two types. One is prolonged or high-level drug exposure, and the other is idiosyncratic reaction resulting from minimal or regular exposure. The latter individuals are observed to be clustered in certain families, suggesting that genetic factors play a role in the susceptibility to aminoglycoside-induced ototoxicity. Studies in the Chinese and Japanese families have shown that the inheritance is exclusively through the maternal line (137-139). The neuro-otological characteristics in patients with the A1555G mutation have been described (134). First, these patients exhibit a progressive loss of hearing. In most patients, the interval...

Deafness tinnitus and vertigo

The bilateral nature of the connections ensures that a unilateral central lesion will not result in lateralised hearing loss. DEAFNESS Three types of hearing loss arc recognised 1. Conductive deafness failure of sound conduction to the cochlea. 2. Sensorineural deafness failure of action potential production or transmission due to disease of the cochlea, cochlear nerve or cochlear central connections. Further subdivision into cochlear and retrocochlear deafness helps establish the causative lesion. 3. Pure word or cortical deafness a bilateral or dominant posterior temporal lobe (auditory cortex) lesion produces a failure to understand spoken language despite preserved hearing. As a rule, when hearing loss is accompanied by tinnitus, conductive deafness is associated with low pitch tinnitus - sensorineural deafness is associated with high pitch tinnitus, except Meniere's disease where tinnitus is low pitch. Pulsing tinnitus has a vascular cause.

Hearing Loss

Delayed sensorineural hearing loss may occur in cases of stapedectomy as they do in the general population. These cases should be treated similarly to those cases with high-dose oral steroids, antiviral agents, and inhalational carbogen. Unfortunately, some of these cases do not recover hearing and unfortunately go on to regain little or no hearing. It is the role of the physician to assist the unfortunate patient in working through the phases of loss that accompany such a terrible outcome. Further, the physician should assist the patient in making accommodations to the new reality of the hearing loss.


Hysterical deafness is quite rare in psychiatric practice but was common among soldiers exposed to blast injury, and was then often associated with hysterical paralysis or blindness. Patients with organic causes of deafness may also prolong or magnify an original injury, particularly where compensation is an issue. Absolute hysterical deafness can be detected during sleep because noise may waken the patient. An EEG sleep recording can be made during which the patient's name is spoken. This may produce the characteristic K complex in the EEG that occurs in response to familiar material, although the response tends to extinguish upon repetition. Evoked-potential studies may also demonstrate intact auditory pathways. Incomplete hysterical deafness is only likely to be diagnosed through audiological testing.

Molecular Biology of Otosclerosis

Otosclerosis is a bone disease of the human otic capsule, which is among the most common causes of acquired hearing loss. The pathologic process is characterized 0y a wave of abnormal bone remodeling in specific sites of predilection within the endochondral layer of the temporal bone. Although the cause of otosclerosis remains uncertain, there is a clear genetic predisposition with half of all cases occurring in families with more than one affected member. There is also compelling evidence that measles virus may play a role in some cases. Ultimately, how genetic factors and viral infection result in otosclerosis must be explained by effects on the molecular factors that control bone remodeling. Otosclerosis is most common among whites, uncommon among Asians, and extremely rare in blacks. Otosclerosis is estimated to occur histologically in 10 of the white population and results in hearing loss in approximately 1 7, 8 . The clinical prevalence of otosclerosis is estimated to be twice...

The Genetics of Otosclerosis Pedigree Studies and Linkage Analysis

Otosclerosis is one of the commonest causes of hearing loss in adults. The hereditary nature of the disease has been acknowledged for over a century but the precise genetic basis of the disorder has as yet not been characterised. It is currently recognised that familial otosclerosis exhibits autosomal dominant inheritance with variable penetrance and expression. More recently, family linkage studies have identified three chromosomal regions that can be ascribed to this disorder otosclerosis 1 on chromosome 15, otosclerosis 2 on chromosome 7 and a third locus on chromosome 6. The genes responsible for the disease within these regions remain to be defined. The work presented in this paper firstly examined the familial nature of the disease in a cohort of individuals that had undergone surgery for otosclerosis. Following detailed ascertainment, pedigrees were constructed for subsequent genetic analysis. The laboratory analysis included linkage analysis of the candidate region on the long...

Phenotype Genotype Correlations in Otosclerosis Clinical Features of OTSC2

As part of the GENDEAF consortium, a European multi-centre otosclerotic database is under construction to collect the clinical data of as many otosclerotic patients as possible. Otosclerosis represents a heterogeneous group of heritable diseases in which different genes may be involved regulating the bone homeostasis of the otic capsule. The purpose of the GENDEAF otosclerosis database is to explore the otosclerotic phenotype more in depth. Subtle phenotypic differences otherwise not visible, may become statistically relevant in a large number of patients. Their identification can lead towards the discovery of new genes involved in the pathway of abnormal bone metabolism in the human labyrinth. As soon as one of the otosclerotic genes is identified, it would allow us to identify genotype-phenotype correlations. From other deafness genes, it is know that different mutations in the same gene may cause similar phenotypes of varying severity. Also the variability in treatment outcomes...

The Influence of the Footplate Perilymph Interface on Postoperative Bone Conduction

In a prospective study, 165 total stapedectomies and 152 small fenestra stapedotomies were performed by three experienced surgeons between 2001 and 2003. In total stapedectomy, a self-made Schuknecht steel wire connective tissue prosthesis, and in stapedotomy, a 0.6-mm platinum wire Teflon piston was used. The pre- and postoperative bone conduction thresholds were compared at the frequencies 250 Hz, 500 Hz, 1 kHz, 1.5 kHz, 2 kHz, 3 kHz and 4 kHz. The postoperative bone conduction between 250 Hz and 3 kHz was significantly better in the total stapedectomy group than in the stapedotomy group. At 4 kHz, both groups showed a slight decrease in bone conduction but the difference was not statistically significant. Therefore, especially in cases with preoperative moderate sensorineural hearing loss, we recommend total stapedectomy using a Schuknecht steel wire connective tissue prosthesis, which offers a stapes-perilymph interface similar to the normal stapes. Smyth and Hassard 1 reviewed...

Prevalence of Histologic Otosclerosis An Unbiased Temporal Bone Study in Caucasians

Background 'Histologic otosclerosis' refers to a disease process without clinical symptoms or manifestations that can only be discovered by sectioning of the temporal bone at autopsy. 'Clinical otosclerosis' concerns the presence of otosclerosis at a site where it causes conductive hearing loss by interfering with the motion of the stapes or of the round window membrane. Various authors have studied the prevalence of histologic otosclerosis on laboratory collections of temporal bones. Some 12-15 of the temporal bones with histologic otosclerosis have demonstrated stapedial fixation. Using these figures for calculating the prevalence of clinical otosclerosis gives an extrapolated clinical prevalence of 0.99-1.2 . This does not correlate well with the clinical data on otosclerotic families from which a clinical prevalence of 0.3 has been estimated. Objective To study the prevalence of histologic otosclerosis in an unselected series of temporal bones. Study Design During a 1-year period,...

Otology and Neurotology

Hearing Loss and Evaluation for Hearing Sudden Sensorineural Hearing Loss (SSHL) 306 Noise-Induced Hearing Loss Hereditary and Congenital Hearing Loss 308 Hearing Evaluation for Hearing Loss in the Pediatric Patient 339 Acquired Prenatal Hearing Loss 341 Congenital Hearing Loss Congenital Hearing Loss 344 Hearing Loss

How to Prevent a Stapes Gusher

A stapes gusher is the result of a congenital inner ear anomaly showing at tone audiometry a conductive or mixed hearing loss. The conductive part of the hearing loss could lead to the thought to explore the middle ear. The congenital origin should lead to a high resolution. CT-scanning to evaluate a widening of the internal acoustic canal. Repeated audiometry could show especially a large conductive impairment in the lowest frequencies with a closure of the airbone gap at 2 khz and a high sensorineural high frequency loss at 4 and 8 khz. Contralateral stapedial reflexes may be present. Since the x-recessive mixed deafness syndrome (DFN3) frequently involves males with an early childhood hearing impairment, clinical suspicion should be high. When stapes surgery is considered a precise medical history is essential regarding on the start of the hearing impairment. A continuous suspicion will guide to the audiological, radiological and molecular genetic clues to trace the correct...

Vibrant Soundbridge Middle Ear Implant in Otosclerosis

With our growing experience with the Vibrant Soundbridge (VSB) middle ear implant, the question emerged of its indication in mixed hearing loss due to advanced otosclerosis. We describe the VSB implantation technique in primary otosclerosis performed together with a stapedotomy piston procedure. Hearing results under headphone and free-field conditions show that the stapedotomy piston procedure closes the air-bone gap as expected and that the VSB provides comparable gain to that usually recorded for pure sensorineural hearing loss. The gains of the two procedures add up. These results open the field of mixed hearing loss to the VSB middle ear implant. We demonstrated the feasibility and described the surgical technique to implant a VSB middle ear implant in mixed hearing loss due to otosclerosis.

Too Much Bone The Middle Ear in Sclerosing Bone Dysplasias

The middle ear changes in Sclerosteosis and Van Buchem disease are described. Reduced bone resorption occurs due to faulty activity of the sclerostin molecule, a product of the recently discovered SOST gene in chromosome 17. Syndactyly draws attention to sclero-teosis, and a conductive hearing loss develops before age six in both conditions. Acute, repeated attacks of facial palsy, similar to Bell's palsy, are usually the first symptoms in both conditions. Total facial nerve decompression can stop the attacks of facial paralysis. The hearing loss is a problem because new bone formation continues up to age 21. Life saving craniectomy becomes necessary when increased intracranial pressure develops, and this may have to repeated. The sclerostin molecule is now of major interest to the researchers who want to develop a treatment for osteoporosis.

Patients Lives following Stapedectomy Complications

Nowadays, it is widely accepted that patients must be informed about the risks associated with any type of surgical procedure. Usually, the information provided consists of quoting a list of risks and their probability of occurrence based on data from the literature, and, more appropriately, the figures reflecting the surgeon's personal experience. As a rule, such data are sufficient to hold up in court in the event of a lawsuit, but may be insufficient to help patients make the most appropriate choice. We report two cases that presented complications following stapedotomy. Both cases had a sensorineural hearing loss and a vestibular deficit. This paper aims at describing the important psychological and social consequences of these complications. The potential impact of such complications on the quality of life and the projects for the future of these young patients was predictable. In order to better assist patients in choosing amongst options, we have taken action and modified our...

Physical Characteristics of Various Lasers Used in Stapes Surgery

The invention of modern small-fenestra stapedotomy procedures using a piston-type prosthesis resulted in a remarkable hearing improvement and at the same time in a reduction of complications compared to conventionally performed stapedectomies. These procedures, however, still contain unpredictable risks such as uncontrolled stapes fracturing, luxation of the stapes or creating a floating footplate, which all can cause hearing loss or even deafness. The worldwide use of the small-fenestration techniques led to the observation that most cases of sensorineural hearing loss occurring after surgery were due to intraoperative trauma to the inner ear, most commonly during footplate manipulation. This led to the use of lasers in otological surgery as a possible tool for precise noncontact cutting of bone without any drill vibration. Today, argon, KTP, CO2 and Er YAG lasers are clinically used in middle ear surgery. Each laser has its characteristic interaction process with bone with its...

Distortion Product Otoacoustic Emissions in Otosclerosis Intraoperative Findings

The aim of the study was to investigate changes in middle ear dynamic characteristics caused by both otosclerosis and stapes surgery (platinotomy, prosthesis positioning, ossicular chain maneuver) and to evaluate distortion product otoacoustic emissions (DPOAEs) before and following surgery. The study included 15 patients (12 women, 3 men mean age 51 years range 32-69 years) with advanced otosclerosis. All the patients were evaluated with the use of pure-tone audiograms (preoperatively, 5 and 30 days after surgery), stapedial reflexes (preoperatively), and DPOAE recordings (preoperatively, at the end of surgery, and 5 and 30 days after surgery). Changes in the hearing thresholds and in the DPOAE amplitudes were compared. Preoperative tests showed conductive hearing loss, with a mean air-bone gap of 36.6 dB HL ranging from 0.25 to 1 kHz, and no stapedial reflexes were detected. DPOAEs were not measurable preoperatively, and they were detected only in 2 patients at the end of surgery,...

Audiological Evaluation of Patients with Otosclerosis

Even though the diagnosis of otosclerosis is confirmed definitively during surgery, preoperative diagnosis and determination of the indication for surgery are made based on audio-logical evaluation. Audiological tests should firmly establish a conductive component to hearing loss. The measurement of pure-tone air and bone conduction thresholds has limitations that prevent an accurate diagnosis based solely upon these test results. Such limitations include general variability of threshold measurements, individual variations of tests in the bone conduction mode, and complex interactions between changes of middle ear mechanics and threshold. Objective audiometric tests should be added because of these uncertainties. The presence of otoacoustic emissions effectively excludes a diagnosis of otosclerosis. Standard clinical immittance measurements are used to confirm (or exclude) otosclerosis, the typical pattern being a normally shaped tympanogram and absent stapedial reflexes....

Stapes Surgery in Japanese Patients with Osteogenesis Imperfecta

Osteogenesis imperfecta (OI) is a heterogenous connective tissue disorder. The classical triad of symptoms involves a conductive and or sensorineural hearing impairment together with a tendency to spontaneous bone fractures and blue sclerae. Between 1993-2004, primary stapes surgery was performed on 14 ears of 11 OI patients who presented with conductive and or mixed hearing loss. Pathological findings included atrophy and or fractures of the stapedial crura in combination with thickening and fixation of the stapes footplate and hypervascularity of the promontory mucosa. All the patients with stapes surgery had significant hearing gain and bone conduction thresholds did not differ significantly in any of the cases the mean postoperative air-bone gap at the main speech frequency range was within 10 dB in 13 14 (93 ) and within 20 dB in 14 14 (100 ). Hearing results following stapes surgery in patients with otosclerosis during the same time interval (n 132) did not differ significantly....

Scheduling and Perioperative Management

And otomicroscopic exam of the ear, the surgeon may present the prognosis, making sure that a realistic picture is presented. If an unexpected poor hearing result occurs in the face of an excellent medical result, as may occur in tympanomastoid surgery, one should wait 6 months and repeat the audiogram. Sometimes, resolution of edema of middle ear mucosa and graft tissue will lead to improvement of the hearing over time. If an excellent hearing result is present after 6 weeks, the patient needs counseling regarding potential diminution of the hearing over time, as recurrent disease or other situations that are out of the surgeon's control may occur. If they do, the patient must understand that no one is at fault, Instead, the natural course of the disease may dictate the eventual outcome.

Auditory Nerve Viii Cochlear component

Test by whispering numbers into one ear while masking hearing in the other ear by occluding and rubbing the external meatus. If hearing is impaired, examine external meatus and the tympanic membrane with auroscope to exclude wax or infection. Differentiate conductive (middle ear) deafness from perceptive (nerve) deafness by CONDUCTIVE DEAFNESS Sound is louder in affected ear since distraction from external sounds is reduced in that ear NERVE DEAFNESS Sound is louder in the normal ear

Audiologic Considerations

Patients with a chronic TM perforation generally present with a conductive hearing loss. The degree of hearing loss varies significantly among patients, from no detectable loss up to a moderate conductive loss. Among the factors influencing the degree of hearing loss present are the size and location of the perforation, the presence of otorrhea, and the status of the ossicular chain. Other chapters of this book address details of ossicular absence, erosion, or fixation, but with an intact ossicular chain the conductive hearing loss associated with a TM perforation rarely exceeds 35 dB, regardless of the size or location of the hole. Small perforations may be associated with no significant impairment of hearing. Generally speaking, the larger the perforation, the greater the degree of hearing loss. Initially the conductive hearing impairment affects only the very low frequencies, but as the size of the perforation increases, the hearing loss increases and involves more of the middle...

Indications for Surgery

The goals of surgery in chronic otitis media are to produce a dry, safe ear to restore hearing and to preserve normal anatomic structures and contours when possible. Careful evaluation of the patient is necessary to determine the necessity and urgency of surgery. In patients with a unilateral dry, central perforation and minimal hearing loss, the main indication for surgery is to prevent further episodes of otorrhea, and surgery is elective. Patients with

Retraction Pockets Cholesteatoma

Deep retraction pockets and cholesteatoma usually involve the pars flaccida or the posterior-superior quadrant of the pars tensa. Occasionally a polyp or granulation tissue may prevent inspection of the retraction pocket or cholesteatoma. Not infrequently deep retractions in the pars flaccida extend into the attic and even the mastoid without significant ossicular involvement. These patients may have a normal-appearing pars tensa, minimal hearing loss, and no otorrhea, highlighting the importance of careful inspection of the entire TM with an operating microscope prior to tympanoplasty.

Opportunities For Improving Prosthesis Function

The first stage in auditory prosthesis signal processing involves capturing the acoustic signal that the patient wants to hear (see Figure 1.1). Most commonly, this is done with a small microphone that the subject wears near the ear. One of the most important problems that can be aided by the acoustic pick-up system is recognition of speech signals in a noisy environment. Noisy environments represent a particularly difficult situation for cochlear implant users, as well as for most individuals with any type of hearing impairment. The problem can be lessened by acoustic pick-up systems that focus on the source of the desired signal. A simple though not always practical approach is to put the pick-up close to the source of the signal. Thus, there are acoustic pick-ups that can be attached directly to a telephone, a television or a radio. In addition, where there is one-to-one contact between the speaker and the listener, the speaker can wear a microphone that transmits the signal to the...

Complications and Management

The probable causes include ossicular trauma from drilling, dissection, or the persistence of active disease. Facial paralysis is also rare. If it occurs immediately, early exploration is usually needed. Mild facial paralysis of delayed onset can be managed expectantly, and usually will recover to normal without surgical 28. Committee on Hearing and Equilibrium. Committee on Hearing and Equilibrium guidelines for the evaluation of results of treatment of conductive hearing loss. Otolaryngol Head Neck Surg 1995 113 186-187.

Haematolymphoid tumours

The patients present with nasal obstruction, epistaxis, hearing impairment, dysphagia, headache or neck mass, similar to the presenting symptoms of nasopha-ryngeal carcinoma. A small proportion of patients have concurrent cervical lym-phadenopathy, a feature seen more frequently in DLBCL than extranodal NK T cell lymphoma.

Vestibular Schwannomas Acoustic Neurinoma

Hearing preservation is reported in 30-75 , and as the fading of hearing is gradual, the result is dependent on length of follow-up. In our own material (in Sheffield) concerning unilateral vestibular schwannomas (VS), using the Gammaplan planning software, no higher than 15 Gy peripheral dose and at least 5 years' follow-up, hearing preservation was achieved in 75 of patients (submitted for publication). Over-enthusiastic reduction in the delivered dose may be counterproductive losing tumor control would lead to morbidity through increased tension on the cranial nerves. One must not forget that, after all, most VS are originally diagnosed as a result of progressive hearing loss.

Stereotactic Radiosurgery

Sized VS, particularly if hearing and or facial nerve preservation on the affected side is paramount. It is increasingly considered (at least by the patients) to be the primary procedure of choice for those with small tumors. It is often chosen to treat recurrent tumors. There are indications that recurrence after microsurgery may be the result of less radical removal in an attempt to achieve hearing preservation. In our material of over 500 acoustic neuromas referred for radiosurgery, 36 had one or more previous operations on their tumor. This is a particularly important group as, owing to the almost uniformly present post-operative hearing loss, they may not have new symptoms until the tumor is large and causes ataxia. One of the common criticisms of radiosurgery relates to the need for follow-up imaging - true, but the high proportion of post-surgical cases in our material suggests that vigilance is necessary even after excision the notion that microsurgery is a definitive...

Understanding Individual Differences

Historical factors include age of onset at deafness and duration of deafness. For adults, if the onset of deafness occurred before the individual acquired language, the prognosis for speech recognition with the implant is much poorer than if the person became deaf postlingually. In addition, many studies have found negative correlations between duration of deafness and speech recognition ability in the postlingually deaf population.140 142-144 Cognitive ability has also been correlated with speech recognition performance.139

Laboratory Issues

The common features of KSS include progressive external ophthalmoplegia (PEO), pigmentary degeneration of the retina, and defects of cardiac conduction.36 The typical affected patient presents before the age of 20 years with PEO and pitosis. This is followed by the pigmentary retinal degeneration and cardiac conduction block. Other features of the disorder may include ataxia, deafness, dementia, and diabetes mellitus. The most common type of mutation found in KSS is a deletion of mtDNA (Figure 7-4), and almost of all these deletions occur sporadically.37 Approximately one third of KSS cases are due to a common 4977 bp deletion, which is associated with direct repeats at the deletion junction. The severity of KSS depends on the extent of heteroplasmy and the tissue distribution of structurally altered mtDNA. An extreme KSS phenotype occurs when the frequency of deleted mtDNA in muscle cells is greater than 85 . In contrast, when lower levels of hetero-plasmy for the deletion are...

Interpretation of Test Results

If clinical suspicion is strong and the blood results are negative, then mtDNA from a muscle biopsy should be tested. Since the disorders are highly clinically heterogeneous and there is considerable phenotypic overlap, the classic MERRF and MELAS point mutations and the KSS deletions frequently are ordered together and tested as a mitochon-drial test panel. The A8344G MERRF mutation is associated with other phenotypes, including Leigh syndrome, myoclonus or myopathy with truncal lipomas, and proximal myopathy. The A3243G MELAS mutation can result in milder phenotypes, including sensorineural deafness with diabetes. Furthermore, these mutations sometimes are found in asymptomatic relatives of the index case.

Other Facial Nerve Disorders

Deafness may result from VIII involvement. Occasionally, other cranial nerves from V-XII are affected. Surgery - Posterior fossa exploration and microvascular decompression i.e. dissecting blood vessels off the facial nerve roots and root entry zone, gives excellent results (cure rate 80 ), but carries the risk of producing deafness and rarely brainstem damage. Alternative, less successful treatments include phenol injection or partial section of the facial nerve these methods inevitably cause some facial weakness.

Postoperative Management

Operative diplopia and changes in vision, detailed neuro-ophthalmological evaluations are a critical part of follow-up management. Similarly, patients with posterior fossa menin-giomas presenting with hearing loss, or those patients whose surgery involved dissection of the cranial nerve complex VII-VIII, should have thorough audiological evaluations as part of their post-operative management. Following resection of all meningiomas, a post-operative baseline MRI scan is obtained on day 1 or 2 after surgery. For benign tumors, following confirmation of total removal on post-operative MRI, further follow-up evaluation with imaging studies are performed every 1-3 years, depending on whether Simpson grade I or II removal

Studies Negating the Role of ASICs in Mechanosensation

A change in mechanosensitivity of cutaneous nerves was detected in ASIC2 and ASIC3 null mutants compared to the wild-type.8'11 However, no change in mechanosensitivity was detected in primary cultured neurons from the ASIC2 knockout compared to wild-type mice where the culture time used in the experiments was unusually long (7-20 days).85 It is unclear whether the negative results might have been influenced by the prolonged in vitro culture time in a medium enriched with nerve growth factors and fetal bovine serum. There is a possibility that other DEG ENaC channels (not necessarily the ASIC family but ENaC as well) might be expressed in the cultured neurons, restoring the responses that were suppressed as a result of the deleted gene. This view is supported by the observation of Hildebrand et al. who found that the ASIC3 null mouse appeared to develop hearing loss early in life and recover normal hearing at 2 months of age,86 indicating that the absence of ASIC3 channels in knockout...

Antiinflammatory treatment

Many anti-inflammatory agents have proved beneficial in animal experiments, and convincing evidence for a beneficial effect from steroids in humans has now emerged. Initial studies conducted in the United States demonstrated clear benefit from the use of dexamethasone in reducing the severity of neurological sequelae, particularly nerve deafness. Subsequent studies in Costa Rica, Egypt, and Switzerland have all reported similar results. Most patients in these studies have suffered from Hib or Strep. pneumoniae meningitis. Firm conclusions as to the efficacy of dexamethasone in reducing neurological damage in meningococcal meningitis cannot be drawn from these studies. However, the pathophysiological events occurring in meningococcal meningitis are unlikely to differ significantly from those seen in other forms of bacterial meningitis.

Fundamental Advantages of MDCT

Blood Thinners Hold Times

The first advantage of MDCT is the ability to scan a lot faster while acquiring a dataset with similar slice thickness and image quality to that of SDCT. Faster table speeds are particularly advantageous in patients with reduced breath-holding capacity since table speeds on the order of 50 to 70 mm per second are achievable. Fast table speeds are often chosen in the setting of trauma, in patients with dyspnea, in young children or in those patients in whom there are communication difficulties such as a language barrier or deafness.

Translabyrinthine Approach

This approach provides the shortest, most direct route to the CPA. Cerebellar retraction is minimized and the lateral end of the facial nerve is clearly visualized. William House popularized this approach, and we advocate its use in patients with hearing loss and in virtually all patients with large neuromas.

Retrosigmoid Approach

Historically, this approach was favored for the removal of acoustic neuromas. However, cere-bellar retraction, which in large lesions may be considerable, and difficult access to the lateral internal auditory canal have reduced the utility of the approach in favor of the translabyrinthine exposure in the majority of patients. Furthermore, headache appears to be more persistent than after a translabyrinthine approach. We use the retrosigmoid approach in an attempt to preserve hearing in patients with socially useful hearing (Gardner-Robertson Grade I). We also use this approach in patients with Grade II hearing accompanied by contralateral hearing loss.

Bilateral Acoustic Neuromas

Bilateral acoustic neuromas are diagnostic of neurofibromatosis-2. This disease is caused by mutations in the NF-2 tumor suppressor gene on chromosome 22, and follows an autosomal dominant pattern of inheritance. Treating these patients is always difficult. Bilateral facial palsies, deafness and the prospect of other CNS tumors developing point to a miserable existence. Management options include observation or subcapsular removal to minimize risk to the audiovestibular nerves and stereotactic radiosurgery. Both require careful consideration. Other options include early treatment of the smaller neuroma to maximise the chance of hearing preservation or treatment of the larger tumor first, with the aim of delaying surgery on the contralateral side if it remains the only source of useful hearing after the first procedure. The treatments in each of these unfortunate patients require individualization and supportive aftercare. The development of brain-stem implant technology to augment...

Molecular Basis of Disease

In 1994, Guilford et al. mapped the first locus for ARNSD to chromosome 13q12-13 and named it DFNB1 (Online Mendelian Inheritance in Man OMIM database online 220290).4 Three years later, the deafness-causing gene at this locus was identified as GJB2.5 GJB2 encodes a transmembrane protein called Connexin 26 (Cx26) that oligomerizes with five other connexins to form a con-nexon. Connexons in adjoining cells join to form gap junctions, or conduits, that facilitate the rapid exchange of Although more than 80 different deafness-causing allele variants of GJB2 have been reported,15 in populations of European descent a single mutation predominates, 35delG. This mutation reflects the deletion of one deoxyguanosine from a string of 6, resulting in a shift in reading frame and premature protein truncation. Based on an analysis of single nucleotide polymorphisms (SNPs) tightly linked to the 35delG mutation, this mutation segregates on a common haplotype background and arose as a result of a...

Clinical features

Common early features of salicylate overdose are irritability, tinnitus, hyperventilation, nausea, vomiting, and abdominal pain. Further symptoms include sweating, flushing, deafness, tremor, hypokalemia, and hypernatremia. The combination of vomiting, hyperventilation, and sweating may lead to severe volume depletion. Other findings may include hypoprothrombinemia, pyrexia (usually in children), confusion, drowsiness, delirium, coma, and convulsions (more common in children).

Causes Of Kidney Failure

According to the 1998 USRDS, the annual incidence of pediatric ESRD is 1,087, or 13 per million.1 Many causes of pediatric ESRD are unique (Table 13B.1). Alport's syndrome is the association of nephropathy, deafness, and cataracts. Infantile polycystic kidney disease (ARPKD) is autosomal recessive, occurs one in 10,000 to one in 40,000 live births, and involves both kidneys and liver. Adult or autosomal dominant polycystic kidney disease (AKPDK) occurs one in 250 live births, but only 10 present in the first two decades of life. Hemolytic uremic syndrome (HUS) is a disease of infancy characterized by microangiopathic hemolytic anemia, renal cortical necrosis, renal failure, and thrombocytopenia. IgA nephropa-thy (Berger's disease) presents as a respiratory illness, hematuria, and glomerular mesangial IgA deposits. Henoch Schonlein syndrome (HSP) is characterized by purpuric skin lesions, abdominal pain, arthralgia, and renal dysfunction. Cysti-nosis is a rare, autosomal recessive,...

Detection of Common Point Mutations of MtDNA by Pcrrflp

Here, we present protocols for screening of four of the most common mtDNA mutations A3243G, the A8344G, T8993G, and T8993C (number refer to the nucleotide (nt) in the original Cambridge sequence (1,7,17,19,20). To date, the A3243G mutation has been the most prevalent mutation of mtDNA and is usually associated with MELAS syndrome however, it can present with other clinical phenotypes such as diabetes and deafness (DAD) and maternally inherited progressive external ophthalmoplegia. The A8344G mutation is the most common cause of MERRF syndrome, but other mutations in the tRNALys gene may cause a MERRF-like phenotype. Both the T8993G and T8993C mutations are associated with two phenotypes neuropathy ataxia with retinitis pigmentosa (NARP) and maternally inherited Leigh syndrome (MILS) (21,22). Table 1 shows PCR-RFLP based strategies to screen for these mutations.

Aminoglycosides and Drug Drug Interactions

Aminoglycosides can have undesirable interactions with other medications. When taken with other aminoglycosides or capremycin (Capastat) the patient has an increased potential for hearing, kidney, and neuromuscular problems. Hearing loss can lead to total deafness long after the patient stops treatment with aminoglycosides.

Nasopharyngeal Carcinoma

Pharyngeal carcinomas show a strong male predilection. While most patients with non-keratinising nasopharyngeal carcinoma are older than 50 years in endemic areas, there is a bimodal age distribution with a peak presentation in the 2nd and 6th decades in intermediate- and low-incidence areas 8, 43, 63, 77, 175 . The causative and aetiological role of EBV is well established in invasive and in situ nasopharyngeal carcinomas, irrespective of the ethnic origin of the patient and the histological subtype 31, 158 . However, environmental factors seem to play a role, since the incidence of non-keratinising na-sopharyngeal carcinoma decreases among second and third generation Chinese living in non-endemic areas 83 . Nasopharyngeal carcinomas arise in the lateral walls of the nasopharynx in the area of the Rosenmuller fossa and presenting symptoms may be nasal obstruction, epistaxis, post-nasal drip, tinnitus and cranial nerve palsy. Hearing loss and unilateral otitis media are related to...

Specific Considerations Related To Radioiodide Treatment

In 1997, a gene defective in Pendred syndrome (PDS) was identified by positional cloning (63). Pendred syndrome is characterized by sensorineural (most often prelin-gual) deafness and goiter with defective organification. In PDS, goiter can develop at any age or may be absent, whereas deafness is generally present (63). Pendrin has been localized on the apical membrane of the thyroid epithelial cells by immunohistochemistry (64). In heterologous expression systems, pendrin has been shown to transport iodide, chloride, formate, and nitrate (65).

Effects of noise on patients

Patients with a hearing impairment, which may occur after prolonged aminoglycoside treatment with concomitant administration of furosemide (frusemide), are even more irritated by noise, since it masks speech and makes understanding and communication more difficult ( ,Klellb.e r.g.,,,1.99.0).

Use of Gentamicin to Treat Vertigo of Menieres Disease

In a compounding pharmacy, sterile techniques are used to prepare a 10-cc dilute solution of gentamicin otic solution. Five, 10, or 20 mg cc is prepared and then transferred into a sterile dropper bottle. The usual concentration used is 10 mg cc. The patient is instructed to lie in the supine position for 15 minutes with the treated ear up, and to administer three drops of this medication into the ear canal three times daily. At the end of each week, hearing is evaluated using audiometric testing of air, bone, and discrimination score. Also, electrocochleography is completed, and balance function is tested using warm and ice-air caloric electronystagmography (ENG). Depending on the test results, treatment is either continued or discontinued. The ideal goal of this treatment is to obtain a 100 reduced vestibular response (RVR) to both warm and ice-air caloric ENG testing without producing a hearing loss. The During the treatment period, if the hearing significantly decreases but...

Prevention and Treatment

Use of pacifiers beyond the age of two years is associated with a substantial increase in otitis media. Viral infections and other conditions that cause inflammation of the nasal mucosa play a role in some cases. Nasal allergies and exposure to air pollution and cigarette smoke are examples of nasal irritants. Administration of influenza vaccine to infants in day care facilities substantially decreases the incidence of otitis media during the flu season. Ampicillin or sulfasoxazole given continuously over the winter and spring are useful preventives in people who have three or more bouts of otitis media within a six-month period. Surgical removal of enlarged adenoids improves drainage from the eustachian tubes and can be helpful in preventing recurrences in certain patients. In those with chronically malfunctioning eustachian tubes, plastic ventilation tubes are sometimes installed in the eardrums so that pressure can equalize on both sides of the drum (see figure 23.7). In the United...

Supplemental Reading

Answer Ototoxicity and nephrotoxicity are common adverse effects of aminoglycoside therapy, particularly when administered orally. You immediately arrange to check renal function and fortunately discover that renal function is not significantly impaired in this patient. You inform the patient that the hearing loss is probably permanent and that he should carefully check with pharmacists and physicians in the future to be certain that any prescriptions drugs that he might receive do not further aggravate this condition.

Adenoma of Ceruminal Glands

Adenomas are unusual neoplasms that present with a blockage of the lateral part of the external auditory me-atus, often associated with deafness and discharge. An important part of the clinical investigation of all glandular neoplasms of the ear canal is exclusion of an origin in the parotid gland.

Symptoms of intrauterine infection

For Toxoplasma infection should be performed on wide indications. Although infections during the first trimester result in a low number of infected infants, the damages are more severe. The classical triad of retinochoroiditis (usually bilateral), microcephaly, and intracranial calcifications is fortunately a rare finding. Other signs are strabismus, blindness, hearing loss, epilepsy, psychomotoric or mental retardation, anaemia, jaundice, rash, petechiae, encephalitis, pneumonitis, and hydrocephalus. If clinical signs are found at birth the sequalae are usually severe. Approximately 85 of sub-clinically infected newborns will subsequently develop chorioretinitis 10-30 , hearing loss and 20-75 , developmental delay (Wilson et al. 1980).

Functional Considerations

Hearing deficits are also commonly associated with syndromic craniosynostoses. Conductive hearing loss secondary to eustacian tube dysfunction and chronic otitis media are the most common causes. Apert syndrome, in particular, may be associated with hearing deficits related to stapedial footplate fixation in addition to middle-ear disease. Audiologic testing should be routinely performed, in order to diagnose these problems early so that appropiate therapy can be undertaken.

Jugulotympanic Paraganglioma

The gross and histological appearances of the two types of neoplasm in the middle ear are, however, identical. Solitary jugulotympanic paragangliomas arise predominantly in females. The neoplasm has been seen at ages between 13 and 85 years with a mean age of about 50 years. Most patients present with conductive hearing loss. Pain in the ear, facial palsy, haemorrhage and tinnitus are also described as symptoms of this lesion. On examination a red vascular mass is seen either behind the intact tympanic membrane or sprouting through the latter into the external canal. Surgical approach to the mass at biopsy often results in severe bleeding.

Squamous Cell Carcinoma

Squamous cell carcinoma is uncommon in the middle ear. It sometimes accompanies squamous cell carcinoma of the external canal or may arise solely from the middle ear epithelium. The patient always has an aural discharge and conductive hearing loss. Pain in the ear, bleeding and facial palsy are common.

Osteogenesis Imperfecta

Osteogenesis imperfecta is a general bone disease with a triad of clinical features multiple fractures, blue sclerae and conductive hearing loss. There is a congenital recessive form in newborns that is often rapidly fatal and a tardive one in adults that is inherited as a mendelian dominant and is more benign. Mutations of type I collagen genes have been established as the underlying cause leading to a general disturbance in the development of collagen, hence the thin sclerae appearing blue as well as poorly formed bone tissue.

Treatment of neonates

It is today agreed that every case of congenital toxoplasmosis should be treated whether or not the newborn infant displays clinical manifestation. Treatment should be instituted as soon as possible after birth, and given for a minimum of 6 months, usually 1 year. Therapy beyond 12 months is only recommended in cases where the infection is still active. In infants with symptomatic congenital toxoplasmosis prospective studies from the United States using pyrimethamine-sulfadiazine continuously for a whole year showed striking effects on the ophthalmologic follow-up (Mets et al. 1996), neuro developmental outcome (McAuley et al. 1994), and hearing loss (McGee et al. 1992). The key question is whether or not treatment is necessary in sub-clinical cases with no symptoms at all. Controlled trials with long prospective follow-ups do not exist. There is, however, historical evidence that early treatment protects against development of late ocular lesions and cerebral symptoms (Wilson et al....

The Polyneuropathies Specific Types Inherited Neuropathies

Several pedigrees show additional features such as - optic atrophy, retinopathy, deafness, ataxia, spasticity and cardiomyopathy. Such 'extra' features complicate a simple classification. Treatment is symptomatic with provision of appropriate footwear, splints or orthopaedic procedures to maintain mobility. In adult onset disease, the rate of progression is exceedingly slow. The demonstration of genetic markers and the application of nerve conduction studies allows early and correct diagnosis in those at risk. Nerve biopsy is of no diagnostic value.

Presentation and methods of spread

Unilateral deafness, secondary to Eustachian tube blockage, is the most common local symptom, followed by epistaxis. Nasal obstruction is common when the tumour is advanced. NPC spreads into the parapharyngeal space laterally, anteriorly to the orbit and paranasal sinuses, inferiorly to the oropharynx, and superiorly through the base of the skull. Any of the cranial nerves can be involved by the tumour. In practice, the Vth nerve is involved most frequently owing to tumour in or around the foramen ovale. Tumour in the cavernous sinus can lead to diplopia secondary to compression of the IV, III, or VI nerves. The posterior cranial nerves (IX to XII) can be involved by direct parapharyngeal spread or compression by retropharyngeal lymph nodes.

Where to assess the patient

The patient needs to be placed at her maximum advantage to provide clinical information in whatever setting the assessment takes place. This has to be stated explicitly because the doctor is often required to take active steps to ensure it. Account has to be taken of special sensory impairment. Poor vision may need lights to be switched on so that the patient can see who is asking her questions. Distracting noises will make it even more difficult for someone with hearing impairment to grasp what is said. Surprisingly often, this may require a request that the television be switched off. Most importantly, examiners need to sit facing the patient with the

Type 2 Stickler Syndrome

Although most patients with Stickler syndrome were found to have the type 1 vitreous pheno-type, it became clear that a minority of pedigrees had the same classical systemic features and the same risk of retinal detachment but had a different vitreous phenotype. The vitreous was also highly abnormal but instead of the classical membranous anomaly, sparse, irregularly thickened, beaded fibrils were seen throughout an otherwise empty-looking gel (type 2 vitreous phenotype). Linkage to COL2A1 was excluded. Mutations in the gene encoding the ai chain of type XI collagen (COL11A1) on chromosome 1 have been found in seven families 23, 31, 40 and these are, to date, the only mutations associated with the type 2 vitreous phenotype. These pedigrees have a similarly high risk of detachment and giant retinal tear but appear to have a higher prevalence of sensorineural deafness than the type 1 Stickler families 26 .

Patient Evaluation and Selection

All children identified with a congenital ear deformity need a complete morphologic examination to uncover other potential malformations. Auditory brainstem response (ABR) audiometry of air (when possible) and bone conduction should ideally be performed within the first few days of life. In patients with bilateral hearing loss, a bone conduction aid should be fit within the first month of life, whereas in cases with unilateral hearing loss, a hearing aid is not necessary. The family history should be reviewed to identify other cases of atresia or hearing loss, and the details of the pregnancy are ascertained. All of the available information is used to determine whether the atresia is sporadic, non-syndromal, or syndromal.

Muscular dystrophies

In some cases weakness of facial muscles is noted in childhood without spread to other muscles until middle age. Cardiac muscle is not involved. Sensorineural deafness and retinal vascular changes (telangiectasis and detachment) may occur. Life expectancy in this condition is normal. EMG studies show myopathic changes. Muscle enzymes may be normal or slightly elevated.

Risks and Complications

A high-frequency sensory hearing loss (6 to 8 kHz) can occur in up to 15 of cases, and in most cases is permanent. Although its etiology is not known with certainty, it is most often ascribed to vibrational energy transferred to the ossicles during drilling. It is, therefore, of paramount importance to switch to diamond burs as the atretic plate is

Mitochondrial disorders

These conditions are considered with muscle diseases due to the frequency of muscle involvement. They are characterised by biochemical and genetic evidence of mitochondrial dysfunction, are maternally inherited or sporadic and often show features of multi-organ disease - renal failure, diabetes mellitus, cataract, deafness, cardiomyopathy. Neurological manifestations predominate.

Specific developmental disorders of speech and language

Differentiation from disorders due to sensory impairment or impairments of the central nervous systems speech and language disorders resulting from severe deafness, specific neurological impairments, or structural brain abnormalities are not classified in the category of specific developmental disorders of speech and language.

Patient Presentation

Exostoses usually do not produce clinical symptoms. If the exostoses are large enough, patients may develop recurrent external otitis because the lesions may prevent the natural elimination of cerumen desquamated epithelium from the external canal. Conductive hearing loss is possible when the exo-stoses tamponades cerumen against the tympanic membrane or when the external canal is occluded by the exostoses. For similar reasons, osteomas and fibrous dysplasia of the external canal can also present with recurrent external otitis or conductive hearing loss. The ear canal must be narrowed considerably to develop clinically significant conductive hearing loss. Hearing loss does not become significant until there is an aperture of 3 mm or less. High-frequency conductive hearing loss is seen initially followed by lower-frequency loss as the aperture narrows below The clinical presentation of patients with acquired soft tissue stenosis depends on the phase of the disease process at the time...

Loop Or Highceiling Diuretics

Loop or high-ceiling diuretics causes a vasodilatory effect and increase renal blood flow before diuresis. The most common side effects are fluid and electrolyte imbalances such as hypokalemia, hyponatremia, hypocalcemia, hypomag-nesemia, and hypochloremia. Hypochloremic metabolic alkalosis may result. Orthostatic hypotension can also occur. Thrombocytopenia, skin disturbances, and transient deafness are seen rarely. Prolonged use can cause thiamine deficiency.

Endocrinopathies Congenital hypothyroidism

Congenital hypothyroidism is associated with mental retardation and may be associated with decreased motor activity at birth, hoarse cry, and difficulty with feeding. It is rarely diagnosed at birth from clinical assessment alone, but it is recognized from new-born screening tests with confirmation by measurement in blood samples. Symptoms of hypothyroidism may not be clearly detected until the second month of life. The overall prevalence is 1 in 4000 live births. Neurological and learning disorders associated with untreated congenital hypothyroidism include attention-deficit disorder, hearing loss, speech defects, ataxia, and abnormal muscle tone. (35 Rapid diagnosis in infancy is essential to prevent these complications. Without treatment, severe neurological dysfunction ensues. With initiation of oral thyroid hormone treatment (levothyroxine in a single daily dose of 8 to 10 pg kg per day) in the first 6 weeks of life, IQ is in the normal range. If treatment is delayed until 3 to 6...

Agent and Epidemiology

The rubella virus is a member of the Toga-viridae family in which the virus contains a single-stranded RNA surrounded by a lipid envelope, or toga. The congenital form was first described by an ophthalmologist, Sir Norman McAlister Gregg in 1941. He practiced in Sydney, Australia, where he reported several cases of congenital cataracts, congenital heart disease, and deafness associated with rubell a during pregnancy 31 . This represents the first demonstration of teratogenicity secondary to a viral agent. Rubella has worldwide distribution, and is a major cause of blindness in developing countries. However, it is rare in the United States since its epidemic pattern was interrupted in 1969 by widespread use of the vaccine 3 .


F, T, T, F, F, F, T Water content and a thinner stratum corneum decrease skin resistance in children. The conducting system of the heart is particularly vulnerable and ventricular fibrillation can occur with a current of 100 mA passing through the chest. Transient arrhythmias are present in 30 of patients. Tetanic spasms of respiratory muscles occur at 30 mA. Neurological findings are common. Loss of consciousness, spinal cord lesions, deafness, seizures, and changes in mood commonly occur after electrical injury. Nearly two-thirds of people struck by lightning live. (Rogers MC, et al. Textbook of Pediatric Intensive Care, 3rd Edition p. 1541.)

Impairments disabilities and handicaps

The associated disability is the effect of the impairment on a person's ability to learn and acquire new skills that come with development. Table., These in turn enable the acquisition of increasingly advanced skills necessary for an independent life. The exact nature and extent of the disability may not only include learning disabilities but also physical and sensory disabilities. The extent to which a given impairment results in a loss of function (disability) may well be influenced by the extent and nature of interventions such as special education, or the correction of hearing loss through the use of a hearing aid. The final level, that of 'handicap', is a result of an interaction between the disability and the extent to which support is available or environmental adjustments made. It is a measure of disadvantage that can be ameliorated through, for example, the presence of carers to enable individuals to go out, or environmental modifications (e.g. wheelchair ramps) that diminish...

Fetal alcohol syndrome

Newborns are often irritable, hypotonic, experience severe tremors, and show other signs of alcohol withdrawal. The cardinal signs are facial features, growth deficit, and central nervous system impairment. The facial features include epicanthic folds, microcephaly, short palpebral fissure, underdeveloped philtrum, and thin upper lip. Facial features tend to become subtle with age. Central nervous system impairment includes mild mental retardation often associated with behavioural difficulties including hyperactivity and sleep disturbance. Optic nerve hypoplasia with poor visual acuity, hearing loss, and receptive and expressive language deficits can also be seen. Cardiac and renal abnormalities include atrial and ventricular septal defects, renal hypoplasia, and bladder diverticula.

Cornelia de Lange syndrome

Many children are diagnosed at birth or within a few days of birth. They show characteristic features of hypertricosis (hirsutism, synophrys, long eyelashes), facial abnormalities including depressed nasal bridge, ocular anomalies, prominent philtrum, thin lips, anteverted nostrils, a down-turned angle of mouth, bluish tinge around eyes, nose and or mouth, widely spaced teeth, high arched palate, low set ears, micrognathia, and short neck. Limb deformities include grossly malformed upper limbs, small hands and feet with short digits, limitation of extension of elbows, proximally placed thumbs, clinodactyly of fifth finger, a single transverse palmar crease (in about 51 per cent of cases), and webbing of second and third toes. Other anomalies include cryptorchidism and hypoplastic genitalia in males (57 per cent of cases), a small umbilicus (53 per cent of cases), a low-pitched cry, and small nipples (55 per cent of cases). (33) Systemic abnormalities include severe gastrointestinal...

Congenital cytomegalovirus disease

Cytomegalovirus is part of the herpes virus group, and as such it shares a characteristic ability to remain dormant within the body over a long period. It is the most common cause of intrauterine infection, with about 1 per cent of all newborns infected in utero, and is the most common cause of congenital deafness and mental retardation 58 Of those infected, about 10 per cent will have the syndrome at birth. Up to 30 per cent will die and 90 per cent of the survivors will develop long-term sequelae such as microcephaly (70 per cent), mental retardation (60 per cent), neuromuscular disorders (35 per cent), hearing loss (30 per cent), and chorioretinitis or optic atrophy (22 per cent). The presence of chorioretinitis usually indicates significant mental retardation. Of the 90 per cent of those who are asymptomatic of clinical disease at birth, 5 to 17 per cent will develop long-term sequelae. Between 30 and 40 per cent of congenital cytomegalovirus disease occurs due to newly acquired...

Medical and genetic issues

The availability of a thorough medical assessment is a necessary component of the psychiatric assessment of children with mental retardation to both establish the cause of the mental retardation and define the presence of any associated medical condition that might contribute to, or complicate, the emotional and behavioural problems. Young people with mental retardation have an increased risk of medical problems particularly those that involve the brain, such as epilepsy and cerebral palsy. Specific medical complications are associated with known causes of mental retardation such as cardiac and bowel problems that occur in Down syndrome and hearing impairment associated with rubella embryopathy.

Evaluation and Management of the Acute Ischemic Stroke Patient

The acute onset of a neurological deficit in a vascular distribution should prompt emergent clinical and radiographic evaluation to identify, treat and prevent recurrence of an ischemic stroke. Common neurological deficits include hemiparesis, aphasia, gaze palsies, hemianopia, dysarthria, confusion, hemineglect, hearing loss and ataxia.

Mastoidectomy Facial Recess Approach and Cochleostomy Techniques

Round Window Niche

For those individuals who have undergone a canal-wall-down mastoidectomy procedure in the past and require cochlear implantation to rehabilitate their hearing loss, a two-stage procedure is required. First, mastoid obliteration with removal of all epithelium, oversewing the external auditory canal, and filling the resulting dead space with abdominal fat is performed. Three to 6 months later, cochlear implantation can be undertaken. If no active disease is present, a one-stage procedure may be considered however, this is not recommended due to the risk of bacterial contamination.

The Ossiculoplasty Outcome Parameter Staging OOPS Index

Many factors considered to be significant by previously published reports were absent in our scoring system. The most notable of these was the status of the stapes in determining outcome. Because the superstructure presents no acoustical advantage, this result seems logical. Another factor noticeably absent from the OOPS index was the diagnosis that led to the surgical intervention. We listed cholestea-toma, chronic otitis, atelectasis, perforation, conductive hearing loss, and any combination of the above as diagnostic parameters. No single diagnosis predicted outcome, unlike the Austin Kartush system. Another factor absent from the OOPS index was magnitude of the preoperative air-bone gap. Although common sense would dictate that a better hearing ear would have fewer comorbidities, and thus a better surgical outcome, than an ear with poorer hearing, there was no trend in the data to support this. As a number of patients undergoing ossiculoplasty have incus necrosis from previous...

The Molecular Endocrinology Of Diabetes Mellitus

Wolfram syndrome (WFS) (OMIM 222300) is also an autosomal recessive disorder, characterized by the mnemonic DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). Diabetes typically occurs in childhood. The causative gene, WFS1 (OMIM 606201), has been identified (125,126) its protein product, wolframin, is a transmembrane protein of uncertain function, although it has been hypothesized to play a role in P-cell and neuronal cell survival pathways based on pathological data. Mutations have been found in more than 90 of patients with WFS and are located throughout the gene with a concentration in exon 8 (127). The syndrome of maternally transmitted diabetes and deafness (OMIM 520000) is caused by a mutation (3243A > G) in the mitochondrial tRNA-LEU1 gene (MTTL1) (OMIM 590050) (128). Diabetes in these patients is similar to Type 2 diabetes, and defects of glucose-regulated insulin secretion have been found (129).

Canal Wall Up or Down

When confronted with a revision mastoid procedure, the most important decision to be made by the surgeon is whether to preserve or remove the posterior canal wall. The differences between CWU and canal-wall-down (CWD) procedures should not be minimized. Hearing loss, aftercare, and the caloric effect produced by the exposed bony labyrinth are major drawbacks to the CWD procedure. On the other hand, a well-done CWD procedure results in a safe, dry ear, whereas a well-done CWU mastoidect-omy may result in recurrent cholesteatoma or mastoiditis. The challenge for the surgeon is to recognize those factors that should alert the surgeon to perform the one procedure that will result in a successful outcome, that is, that obviates the need for another revision procedure in the future.

Auditory Brainstem Implants

At the present ABI has a narrow set of indications related to bilateral retrocochlear deafness. The leading cause is loss of bilateral auditory nerve function after vestibular schwannomas removal in neurofi-bromatosis type 2 (NF-2) followed by other rare bilateral auditory nerve pathologies. Approximately 90 of NF-2 patients exhibit bilateral acoustic neuromas.16 In the United States patients undergoing ABI are under strict protocols including a comprehensive battery of psychophysical and speech perception tests. In deciding on a patient's candidacy for cochlear implantation versus ABI, the surgeon must have a clear distinction between cochlear and retrocochlear deafness. Pre- and postoperative topodiagnosis of deafness after bilateral tumor resection in NF-2 may be crucial in determining hearing rehabilitation strategies. Transtympanic extracochlear monopolar electrical stimulation on the promontory or round window in conjunction with transtympanic electro-cochleography is a...

Bone Anchored Hearing

Baha Abutment Infected

In the quest for complete hearing restoration, the cornerstone remains amplification. Many advances have been made in middle ear and chronic otomas-toiditis surgery. Despite these advances, there will always remain those patients who despite aggressive surgical interventions continue to drain or begin draining once the canal is occluded with a conventional air-conduction hearing aid. Likewise, there will continue to be congenital aural atresia in which reconstructive endeavors should not or will not be undertaken by the patient or by the wishes of the family. For these patients few options exist. A surgically implanted titanium screw is allowed to osseointegrate into the skull to reduce extrusion and to improve acoustic transmission. The timing of applying a load to the screw after surgery ranges from 1 to 3 months to allow for osseointegration and to reduce irritation of the surrounding soft tissues in the operated field. The BAHA vibrates the screw and skull, which in turn vibrates...

ADHKD and anxiety disorder53 Diagnosis and differential diagnosis Assessment of children

Although there is robust evidence for cognitive, neuropsychological, neurophysiological, and biochemical deficits in children with AD-HKD, there are no known laboratory tests that have sufficient diagnostic sensitivity and specificity to distinguish children with AD-HKD from unaffected children, or from those with other disorders. Specific laboratory tests may be necessary to exclude suspected problems, such as poor hearing. Routine screening for thyroid abnormality is not indicated. Despite the increased prevalence of AD-HKD among persons with a generalized resistance to the thyroid hormone, thyroid abnormalities are rare among children with AD-HKD.(55)

Problems of children and adolescents with sensory impairment

Children with hearing or visual impairment are also at increased risk of psychiatric disorder. This is compounded by developmental delay in many cases. Children with fluctuating hearing impairments (often due to otitis media with effusions) are at greater risk of behavioural problems as well as language and reading delays. (28) The risk of developmental delay differs between deaf children of deaf as compared with hearing parents. In the former, parents are more able to attune themselves to the child's developmental needs using the modalities of vision and touch, allowing these children to develop attachments, symbolic play and (sign) language at the same rate as hearing children of hearing parents.(28) Early development in blind infants is facilitated by mothers who are attuned to and can respond to their infant's often subtle cues and give a continual sense of their presence using voice and touch. (28) Sensory impairment can be mistaken for mental retardation and a careful and...

Developmental Anomalies of the Lens

Anomalies of lens shape are very rare. Lenticonus is a circumscribed conical protrusion of the anterior pole (anterior lenticonus) or posterior pole (posterior lenticonus). A hemispherical protrusion is referred to as lentiglobus. Symptoms include myopia and reduced visual acuity. Some patients with Alport's syndrome (kidney disease accompanied by sensorineural hearing loss and anomalies of lens shape) have anterior lenticonus. Posterior lenticonus may be associated with a lens opacity (Fig. 7.6). Treatment is the same as for congenital or juvenile cataract.

The High Risk Perforation

Our results with cartilage reconstruction of the TM with a high-risk perforation have been good. In our experience with over 1000 cartilage tympano-plasties, 34 were performed for a high-risk perforation, with an average 2.9-year follow-up. Of these, 60 were performed in children < 18 years of age) and 47 were revision cases. Successful closure of the TM was seen in 96 of this group (4 incidence of recurrent perforation). The average preoperative pure tone average air-bone gap (PTA-ABG) at 500, 1000, 2000, and 3000 Hz was 21.7 + 13.5 dB whereas the postoperative value was 11.9 + 9.3 dB, which represented a statistically significant improvement in hearing (p < 0.05). Complications were few and included a 2 incidence of postoperative effusion requiring postoperative intubation of the TM and a 2 incidence of conductive hearing loss requiring revision surgery for prosthesis extrusion or dislocation.

Managing Cholesteatoma

One serious disadvantage of cartilage in this scenario is that it creates an opaque TM posteriorly, which could potentially hide residual disease. This is a problem that should be recognized, and surgical discretion should be used. If major disruption of the cholesteatoma sac occurs at extirpation, one must consider the advisability of performing a second-look surgery at a later date. This also applies to cholesteatoma surgery in general, however, not just to cases where cartilage is used in the reconstruction. One must also recognize the fact that most residual disease occurs in the epitympanum, an area that is hidden by the bony canal wall and scutum when canal-wall-up surgery of any type is performed.53 Although posterior cartilage TM reconstruction can delay the diagnosis of residual cholesteatoma, the disease will become manifest either anteriorly or as a recurrence of a conductive hearing loss and there should be no major complications as a result of this

Results of Micro Wick Usage

Since August 1998, over 200 patients in our clinic have been treated using the polyvinyl acetate Micro-Wick.14 When retrospectively reviewing the first 114 patients, the majority of the patients (92) were treated for Meniere's disease. The remaining 22 had a diagnosis of sudden deafness or autoimmune inner ear disease. Not all patients have complete follow-up data, so results include patients for whom long-term follow-up data are available. Patient acceptance of the procedure has been excellent.

Surgical Technique

Is not focused sharply or the drum is thickened. When repeating the laser vaporization, the power setting should be reduced. Laser hits to the promontory are not dangerous and do not cause hearing loss, but can cause discomfort if the middle ear has not been anesthetized. The black char looks ominous but is innocuous. The most recent evolution of the technique employs the SurgiTouch ENT flash scanner. The scanner enables the surgeon to create a controlled tympanostomy of a predictable size and depth with a single burst of focused laser energy. The beam moves in a spiral pattern at a constant velocity resulting in char-free ablation and minimal depth of laser energy penetration. The power settings are similar to those used in the defocused technique, and a second burst of laser energy is rarely required. With the pulse duration set at 0.15 second, 15 to 20 W is used to penetrate the tympanic membrane when middle ear effusion is present. When no effusion is present, 10 W is used....

Definitions Evaluation

The overall goals of treatment of chronic otitis media in order of priority are (1) to make the ear safe (2) to make the ear clean, dry, comfortable, and relatively free of maintenance and (3) to restore hearing. Otologists pursue these goals with medical and surgical treatment. Tympanoplasty is defined as a procedure to remove disease from the middle ear and to reconstruct with or without tympanic membrane grafting. Tympanic membrane grafting is a component of tympanoplasty when the disease involves the tympanic membrane for example, in cases of perforation or atelectasis. Tympanoplasty often includes reconstruction of the ossicular chain for hearing. Sometimes mastoidectomy is also performed either to remove disease or to provide exposure through a posterior tympanotomy approach. A careful evaluation of diseased ears is necessary for planning treatment. Important points of history include the patient's age, history of prior otologic surgery, general health, and the frequency and...

Macular Degeneration

Usher syndrome is another type of retinitis pigmentosa. It is a reces-sively inherited condition accompanied by a loss of hearing. This condition accounts for approximately 6 of hearing impairment in deaf individuals. Sufferers may experience both a severe loss of vision and loss of hearing, a situation that increases social isolation of these individuals as auditory and visual communication progressively decreases (16).

Specific speech articulation disorder

Differential diagnoses include mental retardation, hearing impairment, or other sensory deficits or severe environmental deprivation. Epidemiology The prognosis is favourable if no other associated features such as hearing impairment, neurological conditions, cognitive impairments, or psychosocial problems are present. However, the course varies depending on the severity and the above-mentioned associated features.

Patient Presentation and Initial Examination

Patients present with the primary complaint of hearing loss. The hearing loss usually develops insidiously between puberty and the age of 30. Often, patients delay seeking assistance for 2 or 3 years.6 The family history may or may not be positive for hearing loss treated by surgery. Numerous authors in reviewing their experience have found that about 50 of patients have a positive family history.7,8 A sibling of a patient with otosclerosis has only about a

Linkage analysis

A further difficulty is that diseases may show locus heterogeneity, i.e. there may be two or more different (and unlinked) loci where mutations result in similar phenotypes. There are many instances of this among rare Mendelian diseases. A good example is Usher's syndrome causing deafness and retinitis pigmentosa, which can result from mutations in any one of six different genesAD Subforms of common diseases can also show locus heterogeneity, the most relevant to psychiatry being early onset familial Alzheimer's disease where autosomal dominant forms can result from mutations in three different genes, called presenilin 1, presenilin 2, and amyloid precusor protein. Although methods exist for detecting linkage in the presence of heterogeneity l5) these have not so far in practice been of great help in psychiatric or other common disorders. Rather, the most frequent general strategy has been to focus on multiplex families (i.e. those containing multiple members with the disorder under...

Basic Design

The nerve fibers most likely stimulated by electrodes in the scala tympani are the auditory nerve fibers. In a normal cochlea these fibers have their cell bodies in the spiral ganglia within the cochlea and send peripheral processes along the basilar membrane, which forms the roof of the scala tympani (Figure 1.4). The central processes of these neurons exit the cochlea through the modiolus, which is located in the center of the snail-shaped cochlea. Following deafness, the peripheral processes of the neurons frequently degenerate, leaving the cell bodies and central process intact,22,23 so the site of action potential initiation in many cases is probably at the central process.