Detailed Audiological Evaluation of a Patient with Xeroderma Pigmentosum with Neural Degeneration

2017 ◽  
Vol 28 (01) ◽  
pp. 080-090
Author(s):  
Danielle Mercer ◽  
Annette Hurley ◽  
Fern Tsien
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Auditory Processing ◽  
Xeroderma Pigmentosum ◽  
Genetic Disorder ◽  
Sensorineural Hearing ◽  
Central Component ◽  
Neural Degeneration ◽  
Hearing Sensitivity ◽  
Charcot Marie Tooth Disease

AbstractXeroderma pigmentosum (XP) is a rare autosomal recessive condition characterized by extreme sensitivity to ultraviolet light. Individuals with XP lack the ability to repair DNA (deoxyribonucleic acid) damage caused by ultraviolet radiation, leading to sunburn and increased susceptibility to skin cancers. Approximately 25% of patients also exhibit neural degeneration, which includes progressive mental deterioration, cortical thinning, and sensorineural hearing loss.Herein, we describe the audiological and genetic findings in a patient with XP subtype D with neural degeneration and hearing loss.This is a case report of a patient with XP subtype D, type 1 diabetes, and some clinical features typical of Charcot-Marie-Tooth disease.We obtained audiological evaluations over a course of 11 yr, including serial audiograms, auditory processing disorders evaluations, and electrophysiological testing.Hearing sensitivity has progressed from a unilateral mild high-frequency sensorineural hearing loss to a bilateral sloping moderate to severe/profound sensorineural hearing loss. In addition to the dramatic decline in hearing sensitivity, the patient demonstrates global auditory processing deficits, indicating a central component to his hearing loss.These findings emphasize the importance of the contribution of audiological evaluations to the diagnosis of a genetic disorder. Periodic evaluations of hearing sensitivity and auditory processing can provide information on disease progression in patients with XP with neural degeneration.

Analysis of Click and Swept-Tone Auditory Brainstem Response Results for Moderate and Severe Sensorineural Hearing Loss

2020 ◽  
Vol 25 (6) ◽  
pp. 336-344
Author(s):  
Jingqian Tan ◽  
Jia Luo ◽  
Xin Wang ◽  
Yanbing Jiang ◽  
Xiangli Zeng ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Auditory Brainstem Response ◽  
Basilar Membrane ◽  
Auditory Brainstem ◽  
Sensorineural Hearing ◽  
Control Group ◽  
Hearing Sensitivity ◽  
Brainstem Response ◽  
Frequency Components

<b><i>Introduction:</i></b> Auditory brainstem response (ABR) is one of the commonly used methods in clinical settings to evaluate the hearing sensitivity and auditory function. The current ABR measurement usually adopts click sound as the stimuli. However, there may be partial ABR amplitude attenuation due to the delay characteristics of the cochlear traveling wave along the basilar membrane. To solve that problem, a swept-tone method was proposed, in which the show-up time of different frequency components was adjusted to compensate the delay characteristics of the cochlear basilar membrane; therefore, different ABR subcomponents of different frequencies were synchronized. <b><i>Methods:</i></b> The normal hearing group, moderate sensorineural hearing loss group, and severe sensorineural hearing loss group underwent click ABR and swept-tone ABR with different stimulus intensities. The latencies and amplitudes of waves I, III, and V in 2 detections were recorded. <b><i>Results:</i></b> It was found that the latency of each of the recorded I, III, and V waves detected by swept-tone ABR was shorter than that by click ABR in both the control group and experimental groups. In addition, the amplitude of each of the recorded I, III, and V waves, except V waves under 60 dB nHL in the moderate sensorineural hearing loss group, detected by swept-tone ABR was larger than that by click ABR. The results also showed that the swept-tone ABR could measure the visible V waves at lower stimulus levels in the severe sensorineural hearing loss group. <b><i>Conclusion:</i></b> Swept-tone improves the ABR waveforms and helps to obtain more accurate threshold to some extent. Therefore, the proposed swept-tone ABR may provide a new solution for better morphology of ABR waveform, which can help to make more accurate diagnosis about the hearing functionality in the clinic.

Steroid-dependent sensorineural hearing loss in a patient with Charcot-Marie-Tooth disease showing auditory neuropathy

2015 ◽  
Vol 42 (3) ◽  
pp. 249-253 ◽  
Author(s):  
Yukihide Maeda ◽  
Yuko Kataoka ◽  
Akiko Sugaya ◽  
Shin Kariya ◽  
Katsuhiro Kobayashi ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Auditory Neuropathy ◽  
Sensorineural Hearing ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Steroid Dependent ◽  
Tooth Disease

scholarly journals Towards personalized auditory models: predicting individual sensorineural-hearing-loss profiles from recorded human auditory physiology

2020 ◽  
Author(s):  
Sarineh Keshishzadeh ◽  
Markus Garrett ◽  
Sarah Verhulst
Keyword(s):  
Hearing Loss ◽  
Hair Cell ◽  
Sensorineural Hearing Loss ◽  
Auditory Processing ◽  
Auditory Evoked Potential ◽  
Sensorineural Hearing ◽  
Model Parameters ◽  
Non Invasive ◽  
Auditory Models ◽  
Auditory Physiology

AbstractOver the past decades, different types of auditory models have been developed to study the functioning of normal and impaired auditory processing. Several models can simulate frequency-dependent sensorineural hearing loss (SNHL), and can in this way be used to develop personalized audio-signal processing for hearing aids. However, to determine individualized SNHL profiles, we rely on indirect and non-invasive markers of cochlear and auditory-nerve (AN) damage. Our progressive knowledge of the functional aspects of different SNHL subtypes stresses the importance of incorporating them into the simulated SNHL profile, but has at the same time complicated the task of accomplishing this on the basis of non-invasive markers. In particular, different auditory evoked potential (AEP) types can show a different sensitivity to outer-hair-cell (OHC), inner-hair-cell (IHC) or AN damage, but it is not clear which AEP-derived metric is best suited to develop personalized auditory models. This study investigates how simulated and recorded AEPs can be used to derive individual AN- or OHC-damage patterns and personalize auditory processing models. First, we individualized the cochlear-model parameters using common methods of frequency-specific OHC-damage quantification, after which we simulated AEPs for different degrees of AN-damage. Using a classification technique, we determined the recorded AEP metric that best predicted the simulated individualized CS profiles. We cross-validated our method using the dataset at hand, but also applied the trained classifier to recorded AEPs from a new cohort to illustrate the generalisability of the method.

scholarly journals Comprehensive molecular-genetic analysis of mid-frequency sensorineural hearing loss

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Zuzana Pavlenkova ◽  
Lukas Varga ◽  
Silvia Borecka ◽  
Miloslav Karhanek ◽  
Miloslava Huckova ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Genetic Disorder ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Sensorineural Hearing ◽  
Variant Of Uncertain Significance ◽  
Pathogenic Variants ◽  
Causal Genes ◽  
Uncertain Significance

AbstractThe genetic heterogeneity of sensorineural hearing loss (SNHL) is a major hurdle to the detection of disease-causing variants. We aimed to identify underlying causal genes associated with mid-frequency hearing loss (HL), which contributes to less than about 1% of SNHL cases, by whole exome sequencing (WES). Thirty families segregating mid-frequency SNHL, in whom biallelic GJB2 mutations had been previously excluded, were selected from among 851 families in our DNA repository of SNHL. DNA samples from the probands were subjected to WES analysis and searched for candidate variants associated with SNHL. We were able to identify the genetic aetiology in six probands (20%). In total, we found three pathogenic and three likely pathogenic variants in four genes (COL4A5, OTOGL, TECTA, TMPRSS3). One more proband was a compound heterozygote for a pathogenic variant and a variant of uncertain significance (VUS) in MYO15A gene. To date, MYO15A and TMPRSS3 have not yet been described in association with mid-frequency SNHL. In eight additional probands, eight candidate VUS variants were detected in five genes (DIAPH1, MYO7A, TECTA, TMC1, TSPEAR). Seven of these 16 variants have not yet been published or mentioned in the available databases. The most prevalent gene was TECTA, identified in 23% of all tested families. Furthermore, we confirmed the hypothesis that a substantive portion of cases with this conspicuous audiogram shape is a consequence of a genetic disorder.

Acupuncture and Transdermal Electrostimulation in the Treatment of Deafness

PEDIATRICS ◽  
1975 ◽  
Vol 55 (6) ◽  
pp. 807-813
Author(s):  
Fred H. Bess ◽  
Daniel M. Schwartz ◽  
Linda I. Seestedt ◽  
Freeman E. McConnell
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Additional Data ◽  
Acupuncture Treatment ◽  
Hearing Impaired ◽  
Sensorineural Hearing ◽  
Hearing Sensitivity ◽  
Impaired Children ◽  
Hearing Impaired Children

A review and critique of the research on acupuncture and transdermal electrostimulation therapy in treating sensorineural hearing loss is presented. Of 111 subjects who had undergone acupuncture treatment only 4% showed improvement. Some of the subjects in these studies were noted to exhibit a decrease in hearing sensitivity. Additional data collected at our clinics on four preschool hearing-impaired children failed to provide evidence of improvement following acupuncture. Similar results are reported with transdermal therapy, suggesting that both procedures are inappropriate for the treatment of sensorineural hearing loss.

Hearing impairment in association with distal renal tubular acidosis among Saudi children

1995 ◽  
Vol 109 (10) ◽  
pp. 930-934 ◽  
Author(s):  
Siraj M. Zakzouk ◽  
Samia H. Sobki ◽  
Faizeh Mansour ◽  
Fatma H. Al Anazy
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Renal Tubular Acidosis ◽  
Genetic Disorder ◽  
Distal Renal Tubular Acidosis ◽  
Sensorineural Hearing ◽  
Arranged Marriages ◽  
Renal Tubular ◽  
Tribal Tradition ◽  
Conductive Hearing

AbstractA follow-up of seven patients with the autosomal recessive inherited syndrome of distal renal tubular acidosis (RTA) and sensorineural hearing loss is described. Five patients were diagnosed as having primary distal renal tubular acidosis and rickets, four were found to have severe sensorineural hearing loss of over 80 dB: two of which are brothers. Two patients were diagnosed as having secondary distal renal acidosis due to a genetic disorder called osteopetrosis; they are brothers and their audiograms showed a mild conductive hearing loss of an average 35 dB bilaterally. All patients had growth retardation with improvement due to alkaline therapy but their hearing loss was not affected by the medication. The pedigrees of two families with half sibs showed the familial incidence for consanguineous marriage. Consanguinity was found to be positive in five out of the seven patients. The tribal tradition in Saudi Arabia fosters consanguineous marriages for cultural and social reasons and pre-arranged marriages are still seen.

Intracranial Aneurysm Occurring as Sensorineural Hearing Loss

1981 ◽  
Vol 89 (2) ◽  
pp. 283-287 ◽  
Author(s):  
Joe B. Colclasure ◽  
Sharon S. Graham
Keyword(s):  
Hearing Loss ◽  
Intracranial Aneurysm ◽  
Sensorineural Hearing Loss ◽  
World Literature ◽  
Signs And Symptoms ◽  
Sudden Hearing Loss ◽  
Sudden Onset ◽  
Sensorineural Hearing ◽  
Hearing Sensitivity ◽  
Bilateral Sensorineural Hearing Loss

Reports of sudden hearing loss as the first sign of an intracranial aneurysm are sparse and published primarily in the neurologic literature. A case report is presented in which the initial signs and symptoms of a lobular aneurysm in the posterior communicating artery were the sudden onset of bilateral sensorineural hearing loss, tinnitus, and headache. Following evaluation and identification of the aneurysm, this patient underwent a craniotomy with clipping of the aneurysm; hearing sensitivity improved dramatically following surgery. The world literature is reviewed for cases in which aneurysms have initially occurred as hearing loss, tinnitus, or both. Intracranial aneurysm is discussed as a rare, potential source of a sudden sensorineural hearing loss.

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