scholarly journals Genetic and Non-genetic Workup for Pediatric Congenital Hearing Loss

2021 ◽  
Vol 9 ◽  
Author(s):  
Ryan Belcher ◽  
Frank Virgin ◽  
Jessica Duis ◽  
Christopher Wootten
Keyword(s):  
Hearing Loss ◽  
Genetic Testing ◽  
Sensorineural Hearing Loss ◽  
Congenital Anomalies ◽  
Anticipatory Guidance ◽  
Congenital Hearing Loss ◽  
Bilateral Hearing Loss ◽  
Genetic Causes ◽  
Genetic Hearing Loss ◽  
Over Time

Hearing loss is one of the most common concerns for presentation for a geneticist. Presentation prior to the age of one (congenital hearing loss), profound sensorineural hearing loss (SNHL), and bilateral hearing loss are sensitive and should raise concern for genetic causes of hearing loss and prompt referral for genetic testing. Genetic testing particularly in this instance offers the opportunity for anticipatory guidance including possible course of the hearing loss over time and also connection and evaluation for additional congenital anomalies that may be associated with an underlying syndrome vs. isolated genetic hearing loss.

scholarly journals Audit of the Aetiological Investigations Performed in Children with Sensorineural Hearing Loss At Salford

2021 ◽  
Vol 3 (1) ◽  
Author(s):  
Saud K AlHajeri ◽  
Dr Mohammed Iqbal
Keyword(s):  
Hearing Loss ◽  
Genetic Testing ◽  
Sensorineural Hearing Loss ◽  
Genetic Counselling ◽  
Gold Standard ◽  
Sensorineural Hearing ◽  
British Association ◽  
Hearing Tests ◽  
Work Up

Objective: This project aims to look at the Audiovestibular Physician’s practice at Salford and how closely it aligns with the gold standard guidelines set in the protocol lately published by the British Association of Audiological Physicians. Method: An audit was done retrospectively on 20 patients suffering from sensorineural hearing loss. As such, patient notes were utilised to ascertain which aetiological investigations have been completed and which were not. Any inadequacy in the aetiological work up has been dissected to help know the underlying reasons. Results: All patients had a thorough history taken and were comprehensively physically examined. 95% of patients underwent imaging in the form of MRI/CT. 80% received CMV testing. 75% underwent ECG testing. 60% received family hearing tests. Only 35% had ophthalmology examinations and 25% underwent urine and genetic testing. Conclusion: In some cases, the low compliance rates were due to the Audiovestibular Physician not ordering the investigation as part of the aetiological work up. This could be improved with the use of a dedicated checklist to act as an aid to the physician. Moreover, genetic counselling has been proposed to attempt to boost the compliance rates with genetic testing and similarly, leaflets briefing patients’ families about the importance of undergoing hearing tests themselves is another promising proposition to help improve the adherence

scholarly journals Radiological Assessment of the Indian Children with Congenital Sensorineural Hearing Loss

2014 ◽  
Vol 2014 ◽  
pp. 1-7 ◽  
Author(s):  
Sangeet Kumar Agarwal ◽  
Satinder Singh ◽  
Samarjit Singh Ghuman ◽  
Shalabh Sharma ◽  
Asish Kr. Lahiri
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Inner Ear ◽  
Temporal Bone ◽  
Congenital Anomalies ◽  
Tertiary Care ◽  
Sensorineural Hearing ◽  
Tertiary Care Centre ◽  
Indian Children ◽  
3D Scan

Introduction. Congenital sensorineural hearing loss is one of the most common birth defects with incidence of approximately 1 : 1000 live births. Imaging of cases of congenital sensorineural hearing loss is frequently performed in an attempt to determine the underlying pathology. There is a paucity of literature from India and for this reason we decided to conduct this study in Indian context to evaluate the various cochleovestibular bony and nerve anomalies by HRCT scan of temporal bone and MRI with 3D scan of inner ear in a tertiary care centre.Material and Methods. A total of 280 children with congenital deafness (158 males and 122 females), between January 2002 to June 2013 were included in the study and they were assessed radiologically by HRCT scan of temporal bone and MRI with 3D scan of inner ear.Results. In the present study we found various congenital anomalies of bony labyrinth and vestibulocochlear nerve. Out of 560 inner ears we found 78 anomalous inner ears. Out of these 78 inner ears 57 (73%) had cochlear anomaly, 68 (87.1%) had anomalous vestibule, 44 (56.4%) had abnormal vestibular aqueduct, 24 (30.7%) had anomalous IAC, and 23 (29.4%) had abnormal cochleovestibular nerves.Conclusion. In present study, we found lower incidences of congenital anomalies comparative to existing literature.

scholarly journals Efficacy of Connexin testing in detecting Non-syndromic Sensorineural Hearing Loss in an Indian cohort

2020 ◽  
Author(s):  
Jagannath Kurva ◽  
Nalini Bhat ◽  
Suresh K Shettigar ◽  
Harshada Tawade ◽  
Shagufta Shaikh ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Genetic Testing ◽  
Sensorineural Hearing Loss ◽  
Indian Population ◽  
Sensorineural Hearing ◽  
Gjb2 Gene ◽  
Compound Heterozygous ◽  
Missense Mutations ◽  
Pathogenic Mutations ◽  
Chinese Studies

Hearing loss is one of the most common sensory disorder and approximately 466 million people have disabling hearing loss worldwide. This study was conducted to identify the mutations in the GJB2, GJB3, and GJB6 genes in an Indian cohort with non-syndromic sensorineural hearing loss and ascertain its use for genetic testing. 31 affected individuals with prelingual bilateral non-syndromic severe to profound sensorineural hearing loss were identified based on clinical evaluation and audiometric assessment. Sanger Sequencing method was used. Six out of 31 affected individuals showed pathogenic nonsense mutations in GJB2 gene, accounting to 19.3%. Of the 6 affected individuals, 5 were homozygous for c.71G>A(p.Trp24Ter) and one was compound heterozygous for c.71G>A and c.370C>T(p.Gln124Ter). Missense mutations [c.380G>A(p.Arg127His) and c.457G>A(p.Val153Ile)], and 3' UTR variations were also identified in GJB2 gene. GJB3 and GJB6 genes showed only silent mutations and 3' UTR variations. 19.3% of affected individuals showing pathogenic mutations in GJB2 gene in our cohort is comparable to other Indian studies (approximately 20%) and it is less as compared to Caucasian, Japanese, and Chinese studies (approximately 50%). Lower occurrence of pathogenic mutations in GJB2 gene in our cohort and other Indian studies as compared to other Caucasian, Japanese and Chinese studies, and absence of pathogenic mutations in GJB3 and GJB6 genes indicates that these genes may have a limited role in the Indian population. Hence there is a need to identify genes that play a major role in the Indian population so that they can be used for genetic testing for NHSL to aid in accurate and early diagnosis.

scholarly journals Diagnosing and Preventing Hearing Loss in the Genomic Age

2019 ◽  
Vol 23 ◽  
pp. 233121651987898 ◽  
Author(s):  
John H. McDermott ◽  
Leslie P Molina-Ramírez ◽  
Iain A Bruce ◽  
Ajit Mahaveer ◽  
Mark Turner ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Congenital Hearing Loss ◽  
Sequencing Technology ◽  
The Past ◽  
Genomic Knowledge ◽  
Current State ◽  
Technological Advances ◽  
Genetic Hearing Loss ◽  
Genetic Technologies

Over the past two decades, significant technological advances have facilitated the identification of hundreds of genes associated with hearing loss. Variants in many of these genes result in severe congenital hearing loss with profound implications for the affected individual and their family. This review collates these advances, summarizing the current state of genomic knowledge in childhood hearing loss. We consider how current and emerging genetic technologies have the potential to alter our approach to the management and diagnosis of hearing loss. We review approaches being taken to ensure that these discoveries are used in clinical practice to detect genetic hearing loss as soon as possible to reduce unnecessary investigations, provide information about reproductive risks, and facilitate regular follow-up and early treatment. We also highlight how rapid sequencing technology has the potential to identify children susceptible to antibiotic-induced hearing loss and how this adverse reaction can be avoided.

scholarly journals Hearing Loss due to Carbon Monoxide Poisoning

2013 ◽  
Vol 2013 ◽  
pp. 1-3 ◽  
Author(s):  
Amir Houshang Mehrparvar ◽  
Mohammad Hossein Davari ◽  
Abolfazl Mollasadeghi ◽  
Mohammad Reza Vahidi ◽  
Mehrdad Mostaghaci ◽  
...  
Keyword(s):  
Carbon Monoxide ◽  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Otoacoustic Emissions ◽  
Chronic Exposure ◽  
Pure Tone ◽  
Carbon Monoxide Poisoning ◽  
Pure Tone Audiometry ◽  
Bilateral Hearing Loss ◽  
Bilateral Sensorineural Hearing Loss

Carbon monoxide poisoning is one of the rare causes of hearing loss which may cause reversible or irreversible, unilateral or bilateral hearing loss after acute or chronic exposure. In this report, we present a case of bilateral sensorineural hearing loss in a secondary smelting workshop worker after an acute exposure to carbon monoxide. This complication was diagnosed by pure-tone audiometry and confirmed by transient evoked otoacoustic emissions. Hearing loss has not improved after 3 months of followup.

Cochlear Implantation in Sudden Bilateral Sensorineural Hearing Loss

1998 ◽  
Vol 77 (4) ◽  
pp. 300-303 ◽  
Author(s):  
Eric W. Sargent ◽  
Douglas L. Beck
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Cochlear Implantation ◽  
Sudden Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Bilateral Hearing Loss ◽  
Significant Recovery ◽  
Open Set ◽  
Bilateral Sensorineural Hearing Loss

Although 1–4% of all cases of sudden sensorineural hearing loss (SSHL) are bilateral, all such patients reported to date have experienced significant recovery of hearing in at least one ear. We report a case of profound, bilateral idiopathic SSHL without recovery which was treated with cochlear implantation; the first such report to our knowledge. The patient achieved open-set spondee recognition. Individuals with sudden bilateral hearing loss in whom treatable causes have been eliminated may benefit from cochlear implantation.

scholarly journals Molecular Investigation of Pediatric Portuguese Patients with Sensorineural Hearing Loss

2011 ◽  
Vol 2011 ◽  
pp. 1-5 ◽  
Author(s):  
Célia Nogueira ◽  
Miguel Coutinho ◽  
Cristina Pereira ◽  
Alessandra Tessa ◽  
Filippo M. Santorelli ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Genetic Testing ◽  
Mitochondrial Genome ◽  
Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Novel Mutations ◽  
Portuguese Population ◽  
Molecular Investigation ◽  
Molecular Etiology ◽  
Testing And Counseling

The understanding of the molecular genetics in sensorineural hearing loss (SNHL) has advanced rapidly during the last decade, but the molecular etiology of hearing impairment in the Portuguese population has not been investigated thoroughly. To provide appropriate genetic testing and counseling to families, we analyzed the whole mitochondrial genome in 95 unrelated children with SNHL (53 nonsyndromic and 42 syndromic) and searched for variations in two frequent genes, GJB2 and GJB6, in the non-syndromic patients. Mutations in mtDNA were detected in 4.2% of the cases, including a hitherto undescribed change in the mtDNA-tRNATrp gene (namely, m.5558A>G). We also identified mono- or biallelic GJB2 mutations in 20 of 53 non-syndromic cases and also detected two novel mutations (p.P70R and p.R127QfsX84). Our data further reinforce the notion that genetic heterogeneity is paramount in children with SNHL.

Congenital choanal atresia and nerve deafness

1979 ◽  
Vol 93 (12) ◽  
pp. 1223-1228 ◽  
Author(s):  
Israel Brama ◽  
Dan Engelhard
Keyword(s):  
Congenital Anomaly ◽  
Hearing Loss ◽  
Early Diagnosis ◽  
Sensorineural Hearing Loss ◽  
Congenital Anomalies ◽  
Neonatal Period ◽  
Choanal Atresia ◽  
Surgical Correction ◽  
Electric Response ◽  
Electric Response Audiometry

SummaryFOUR cases of bilateral congenital choanal atresia are presented. Three of them (75 per cent) were shown by Electric Response Audiometry (ERA) tests to have, in addition, congenital nerve deafness; and two had other congenital anomalies. Thus, congenital nerve deafness should be considered as a possible congenital anomaly associated with choanal atresia. Early diagnosis and treatment of congenital choanal atresia can prevent death from asphyxia during the neonatal period, but after surgical correction of the atresia the possible existence of additional anomalies has to be determined and treated.By the use of electric response audiometry we are able to detect sensorineural hearing loss during the neonatal period and can plan the rehabilitation of deaf infants.

Magnetic resonance imaging versus computed tomography in pre-operative evaluation of cochlear implant candidates with congenital hearing loss

2002 ◽  
Vol 116 (10) ◽  
pp. 804-810 ◽  
Author(s):  
Levent Sennaroglu ◽  
Isil Saatci ◽  
Ayse Aralasmak ◽  
Bulent Gursel ◽  
Ergin Turan
Keyword(s):  
Magnetic Resonance Imaging ◽  
Hearing Loss ◽  
Magnetic Resonance ◽  
Cochlear Implant ◽  
Sensorineural Hearing Loss ◽  
Internal Auditory Canal ◽  
Cochlear Nerve ◽  
Sensorineural Hearing ◽  
Congenital Hearing Loss ◽  
Resonance Imaging

Recent reports indicate that the cochlear nerve may be absent in some cases of congenital sensorineural hearing loss. The aim of this prospective study was to determine the incidence of cochlear nerve anomaly in cochlear implant candidates with congenital hearing loss using magnetic resonance imaging (MRI). Twenty-seven patients with congenital profound bilateral sensorineural hearing loss who were being evaluated for the cochlear implant procedure were studied.These patients had high-resolution computerized tomography (CT), through the petrous bone in axial sections. MRI examinations consisted of T1 and turbo spin echo (TSE) T2-weighted 3 mm axial images, and additional 3D Fourier Transform T2-weighted TSE sequences obtained on three different planes (axial, perpendicular and parallel to the internal auditory canal (IAC) i.e. oblique sagittal and coronal, respectively) for the purpose of cochlear nerve demonstration. Results showed that all of the 14 patients with normal CT of the temporal bone, had four distinct nerves in the distal part of the IAC on TSE-MRI. Thirteen patients demonstrated various bony malformations of the cochleovestibular system on CT. MRI revealed the absence of the cochleovestibular nerve in four patients where the IAC was very narrow or completely absent on CT. One patient with severe Mondini malformation who had an enlarged IAC demonstrated an isolated absent cochlear nerve.

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