807 results match your criteria Auditory Neuropathy


Identification of Perinatal Risk Factors for Auditory Neuropathy Spectrum Disorder.

Laryngoscope 2020 Jul 1. Epub 2020 Jul 1.

House Ear Institute, University of Southern California, Los Angeles, California, U.S.A.

Objectives/hypothesis: To identify medical risk factors associated with auditory neuropathy spectrum disorder (ANSD).

Study Design: Retrospective case-control study.

Methods: During a 2-year period (2013-2014) patients with newly diagnosed ANSD were identified at a tertiary care facility. Read More

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http://dx.doi.org/10.1002/lary.28904DOI Listing

Fiber-Specific Changes in White Matter Microstructure in Individuals With X-Linked Auditory Neuropathy.

Ear Hear 2020 Jun 24. Epub 2020 Jun 24.

Department of Otorhinolaryngology, Head and Neck Surgery, Institute of Otolaryngology, Chinese People's Liberation Army General Hospital 301, Beijing, China.

Objectives: Auditory neuropathy (AN) is the term used to describe a group of hearing disorders, in which the hearing impairment occurs as a result of abnormal auditory nerve function. While our understanding of this condition has advanced significantly over recent years, the ability to determine the site of lesion and the extent of dysfunction in affected individuals remains a challenge. To this end, we investigated potential axonal degeneration in the white matter tracts of the brainstem in individuals with X-linked AN. Read More

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http://dx.doi.org/10.1097/AUD.0000000000000890DOI Listing

An integrative approach for pediatric auditory neuropathy spectrum disorders: revisiting etiologies and exploring the prognostic utility of auditory steady-state response.

Sci Rep 2020 Jun 17;10(1):9816. Epub 2020 Jun 17.

Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan.

Auditory neuropathy is an important entity in childhood sensorineural hearing loss. Due to diverse etiologies and clinical features, the management is often challenging. This study used an integrative patient-history, audiologic, genetic, and imaging-based approach to investigate the etiologies and audiologic features of 101 children with auditory neuropathy. Read More

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http://dx.doi.org/10.1038/s41598-020-66877-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7299968PMC

Cortical Auditory Event-Related Potentials and Categorical Perception of Voice Onset Time in Children With an Auditory Neuropathy Spectrum Disorder.

Front Hum Neurosci 2020 25;14:184. Epub 2020 May 25.

Department of Otolaryngology-Head and Neck Surgery, Wexner Medical Center, The Ohio State University, Columbus, OH, United States.

: This study evaluated cortical encoding of voice onset time (VOT) in quiet and noise, and their potential associations with the behavioral categorical perception of VOT in children with auditory neuropathy spectrum disorder (ANSD). : Subjects were 11 children with ANSD ranging in age between 6.4 and 16. Read More

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http://dx.doi.org/10.3389/fnhum.2020.00184DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7261872PMC

Vestibular impact of Friedreich ataxia in early onset patients.

Cerebellum Ataxias 2020 28;7. Epub 2020 May 28.

Center for Balance Evaluation in Children (EFEE), Otolaryngology Department, Assistance Publique des Hôpitaux de Paris, Universitary Robert-Debré Hospital, F-75019 Paris, France.

Background: Friedreich ataxia (FRDA) is the most frequent form of inherited ataxias. Vestibular and auditory assessments are not commonly part of the check up for these patients despite hearing and balance complaints. Screening of vestibular and auditory function was performed in a large group of young patients with genetically confirmed FRDA. Read More

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http://dx.doi.org/10.1186/s40673-020-00115-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7254732PMC

Cochlear Implantation Outcomes in Patients With Mutations.

Front Neurosci 2020 21;14:447. Epub 2020 May 21.

Department of Otorhinolaryngology, 2nd Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China.

Auditory neuropathy is a special type of hearing loss caused by dysfunction of the synapse of the inner hair cells, the auditory nerve, and/or the auditory nerve itself. For patients with auditory neuropathy who have severe to profound hearing loss or failed auditory skills development with hearing-aids, cochlear implantation (CI) serves as the only possible effective treatment. It is accepted that the exact sites of lesion causing auditory neuropathy determine the CI performance. Read More

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http://dx.doi.org/10.3389/fnins.2020.00447DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253664PMC

The limitation of risk factors as a means of prognostication in auditory neuropathy spectrum disorder of perinatal onset.

Int J Pediatr Otorhinolaryngol 2020 Aug 14;135:110112. Epub 2020 May 14.

Department of Otolaryngology-Head and Neck Surgery, University of Toronto, Toronto, Canada; Archie's Cochlear Implant Laboratory, The Hospital for Sick Children, Toronto, Canada; Department of Otolaryngology Head and Neck Surgery, Hospital for Sick Children, Toronto, Canada.

Objective: The management of hearing loss due to auditory neuropathy spectrum disorder (ANSD) in neonates and infants is challenging because speech and language development prognosis cannot be directly inferred from early audiometric hearing thresholds. Consequently, appropriate intervention with hearing aids or cochlear implantation (CI) can be delayed. Our objective was to determine whether any features of patient history could be used to identify CI candidates with ANSD at an earlier age. Read More

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http://dx.doi.org/10.1016/j.ijporl.2020.110112DOI Listing

[OTOF-related auditory neuropathy spectrum disorder].

Vestn Otorinolaringol 2020 ;85(2):21-25

National Research Center for Audiology and Hearing Rehabilitation, Moscow, Russia.

Otoferlin () gene mutations are the most common cause of hereditary ANSD according to investigations in several countries.

The Aim: Of this study was to estimate the prevalence of mutations in Russian children with ANSD and evaluate audiological and clinical features of -related ANSD.

Patients And Methods: 28 children with bilateral ANSDwere enrolled in the investigation. Read More

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http://dx.doi.org/10.17116/otorino20208502121DOI Listing
January 2020

Neural representation of consonant-vowel transition in individuals with cochlear hearing loss and auditory neuropathy spectrum disorder.

Eur Arch Otorhinolaryngol 2020 May 6. Epub 2020 May 6.

Department of Audiology, All India Institute of Speech and Hearing, Mysore, India.

Purpose: Acoustic change complex (ACC) is an evoked potential recorded in response to subtle change(s) in the continuing stimuli. It is assumed that poor speech perception can be due to poor encoding of consonant-vowel (CV) transition in cochlear hearing loss (CHL) and auditory neuropathy spectrum disorder (ANSD). The present study aims to investigate the use of ACC as an objective tool to study neural representation of CV transition in individuals with ANSD, CHL, and normal hearing (NH). Read More

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http://dx.doi.org/10.1007/s00405-020-06017-4DOI Listing

Getting the balance right in auditory neuropathy.

Authors:
Luke Chen

Clin Neurophysiol 2020 Jul 30;131(7):1656. Epub 2020 Mar 30.

Alfred Hospital, Department of Neurology, 55 Commercial Rd, Melbourne, VIC 3004, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.clinph.2020.03.018DOI Listing

AIF knockdown induce apoptosis and mitochondrial dysfunction in cochlear spiral ganglion neurons in vitro.

Mol Med Rep 2020 Apr 31;21(4):1910-1920. Epub 2020 Jan 31.

Department of Otolaryngology‑Head and Neck Surgery, Institute of Otolaryngology, PLA General Hospital, Beijing 100853, P.R. China.

The underlying mechanism involved in auditory neuropathy spectrum disorder (ANSD) remains largely unclear. It has been previously reported that mutations in the apoptosis‑inducing factor (AIF) gene are associated with auditory neuropathy and delayed peripheral neuropathy, which can eventually cause ANSD. In the present study, the regulatory effects of AIF knockdown on the cellular functions of spiral ganglion neurons (SNGs) and the molecular mechanism(s) of AIF knockdown in inducing cell apoptosis in SGNs were further investigated. Read More

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http://dx.doi.org/10.3892/mmr.2020.10970DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057812PMC

Acquired auditory neuropathy spectrum disorder after malaria treated with quinine.

Authors:
Helen Brough

Trop Doct 2020 Apr 14:49475520917236. Epub 2020 Apr 14.

Clinical Scientist (Audiology), African Bible College Hearing Clinic and Training Centre, Lilongwe, Malawi.

Auditory neuropathy spectrum disorder (ANSD) can cause significant hearing impairment; it occurs when there is intact outer hair cell function in the inner ear, with a dyssynchronous neural response, thought to be due to dysfunction of the inner hair cells (IHCs), the synapse of the IHCs and the auditory nerve, or of the auditory nerve itself. This case report describes the onset of ANSD in a Malawian child after severe malaria treated with quinine. Diagnosis of ANSD was made by confirming the presence of otoacoustic emissions, together with the absence of auditory brainstem response and absent acoustic reflexes. Read More

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http://dx.doi.org/10.1177/0049475520917236DOI Listing

Auditory Neuropathy Spectrum Disorders: From Diagnosis to Treatment: Literature Review and Case Reports.

J Clin Med 2020 Apr 10;9(4). Epub 2020 Apr 10.

Department of Oto-Rhino-Laryngology and Head and Neck Surgery, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, 10 Avenue Hippocrate, 1200 Brussels, Belgium.

Auditory neuropathy spectrum disorder (ANSD) refers to a range of hearing impairments characterized by deteriorated speech perception, despite relatively preserved pure-tone detection thresholds. Affected individuals usually present with abnormal auditory brainstem responses (ABRs), but normal otoacoustic emissions (OAEs). These electrophysiological characteristics have led to the hypothesis that ANSD may be caused by various dysfunctions at the cochlear inner hair cell (IHC) and spiral ganglion neuron (SGN) levels, while the activity of outer hair cells (OHCs) is preserved, resulting in discrepancies between pure-tone and speech comprehension thresholds. Read More

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http://dx.doi.org/10.3390/jcm9041074DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7230308PMC

Otoferlin gene editing in sheep via CRISPR-assisted ssODN-mediated Homology Directed Repair.

Sci Rep 2020 Apr 7;10(1):5995. Epub 2020 Apr 7.

Unidad de Animales Transgénicos y de Experimentación (UATE), Institut Pasteur de Montevideo, Montevideo, Uruguay.

Different mutations of the OTOF gene, encoding for otoferlin protein expressed in the cochlear inner hair cells, induces a form of deafness that is the major cause of nonsyndromic recessive auditory neuropathy spectrum disorder in humans. We report the generation of the first large animal model of OTOF mutations using the CRISPR system associated with different Cas9 components (mRNA or protein) assisted by single strand oligodeoxynucleotides (ssODN) to induce homology-directed repair (HDR). Zygote microinjection was performed with two sgRNA targeting exon 5 and 6 associated to Cas9 mRNA or protein (RNP) at different concentrations in a mix with an ssODN template targeting HDR in exon 5 containing two STOP sequences. Read More

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http://dx.doi.org/10.1038/s41598-020-62879-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7138848PMC

Cochlear implantation in patient with Charcot-Marie-Tooth disease.

Auris Nasus Larynx 2020 Apr 4. Epub 2020 Apr 4.

Department of Otorhinolaryngology, Nagoya University Graduate School of Medicine, Nagoya, Japan.

Two patients with auditory neuropathy spectrum disorder (ANSD) considered to be associated with Charcot-Marie-Tooth (CMT) are reported. In case 1, a 23-year-old man presented with progressive bilateral sensorineural hearing loss (SNHL) from 10 years of age and was diagnosed with ANSD. He was later diagnosed with CMT by neurological testing. Read More

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http://dx.doi.org/10.1016/j.anl.2020.03.003DOI Listing

Importance of Vestibulo-ocular Reflex Gain and Refixation Saccade Analysis in Individuals with Auditory Neuropathy Spectrum Disorder.

Int Arch Otorhinolaryngol 2020 Apr 4;24(2):e140-e148. Epub 2019 Nov 4.

Department of Audiology, All India Institute of Speech and Hearing, Mysore, Karnataka, India.

 Auditory neuropathy spectrum disorder (ANSD) features the presence of otoacoustic emissions, poor speech identification score and absent auditory brainstem response.  The present study was designed to evaluate the functioning of all six semicircular canals in individuals with ANSD and to compare it with those of normal-hearing individuals.  A total of 50 individuals participated in the present study, in which Group I comprised 25 normal-hearing individuals, and Group II comprised 25 individuals with ANSD. Read More

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http://dx.doi.org/10.1055/s-0039-1697004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6828562PMC

Lin28 reprograms inner ear glia to a neuronal fate.

Stem Cells 2020 Apr 3. Epub 2020 Apr 3.

Department of Otolaryngology, Harvard Medical School, Boston, Massachusetts, USA.

Sensorineural hearing loss is irreversible and can be caused by loss of auditory neurons. Regeneration of neural cells from endogenous cells may offer a future tool to restore the auditory circuit and to enhance the performance of implantable hearing devices. Neurons and glial cells in the peripheral nervous system are closely related and originate from a common progenitor. Read More

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http://dx.doi.org/10.1002/stem.3181DOI Listing

Impact of Universal Newborn Hearing Screening on cochlear implanted children in Ireland.

Int J Pediatr Otorhinolaryngol 2020 Jun 27;133:109975. Epub 2020 Feb 27.

Royal College of Surgeons in Ireland, Dublin 2, Ireland; National Hearing Implant and Research Centre, Beaumont Hospital, Dublin 9, Ireland; School of Medicine, Trinity College of Dublin, Dublin 2, Ireland.

Objectives: Cochlear Implant (CI) is an established treatment for severe to profound hearing loss (HL). Early diagnosis and intervention in HL are crucial in order to provide access to sound and increase the likelihood of spoken language development in pre-lingually deaf children. In April 2011, the Health Service Executive (HSE) implemented the Universal Newborn Hearing Screening (UNHS) in a phased regional basis in Ireland. Read More

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http://dx.doi.org/10.1016/j.ijporl.2020.109975DOI Listing

Long-term Follow-up of a Patient With Auditory Neuropathy and Normal Hearing Thresholds.

JAMA Otolaryngol Head Neck Surg 2020 Mar 12. Epub 2020 Mar 12.

Auditory Neuroscience Laboratory, Department of Communication Sciences, Northwestern University.

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http://dx.doi.org/10.1001/jamaoto.2019.4314DOI Listing

A Case with Brown-Vialetto-Van Laere Syndrome: A Sudden Onset Auditory Neuropathy Spectrum Disorder.

Turk Arch Otorhinolaryngol 2019 Dec 1;57(4):201-205. Epub 2019 Dec 1.

Department of Audiology, Marmara University School of Medicine, İstanbul, Turkey.

The Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare neurological disorder that may present at all ages with sensorineural hearing loss, bulbar palsy and respiratory compromise. We describe a 6-year-old male patient who suffered bilateral sudden onset severe hearing loss for two years. Audiological investigations revealed sudden onset auditory neuropathy spectrum disorder bilaterally. Read More

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http://dx.doi.org/10.5152/tao.2019.4639DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7032554PMC
December 2019

Vestibular dysfunction in patients with auditory neuropathy detected by vestibular evoked myogenic potentials.

Clin Neurophysiol 2020 Jul 13;131(7):1664-1671. Epub 2020 Feb 13.

Department of Otorhinolaryngology, Head and Neck Surgery, The 2nd Affiliated Hospital of Xi'an Jiaotong University, Xi'an 710004, Shaanxi Province, PR China; Department of Otorhinolaryngology, Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, PR China. Electronic address:

Objectives: This study aimed to determine vestibular involvement in patients with auditory neuropathy (AN) using ocular vestibular evoked myogenic potential (oVEMP), cervical vestibular evoked myogenic potential (cVEMP), caloric tests, video Head Impulse Tests (vHIT), and Suppression Head Impulse Paradigm (SHIMP) tests.

Methods: Twenty-two patients with AN (study group) and 50 age-and-gender-matched healthy subjects (control group) were enrolled. All patients underwent air-conducted sound oVEMP and cVEMP tests. Read More

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http://dx.doi.org/10.1016/j.clinph.2020.02.002DOI Listing

A novel variant in diaphanous homolog 1 (DIAPH1) as the cause of auditory neuropathy in a Chinese family.

Int J Pediatr Otorhinolaryngol 2020 Jun 13;133:109947. Epub 2020 Feb 13.

Department of Otolaryngology-Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, 100853, China.

Objectives: To determine the genetic cause of non-syndromic autosomal dominant deafness segregating in a Chinese Auditory neuropathy (AN) family.

Introduction: AN is a genetically related rare disease characterized by sensorineural hearing loss and retention of hair cell function. Diaphanous Homolog 1 (DIAPH1) is the causative gene of DFNA1. Read More

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http://dx.doi.org/10.1016/j.ijporl.2020.109947DOI Listing

[Cervial vestibular-evoked myogenic potential induced by galvanic vestibular stimulation in normal people].

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2020 Jan;34(1):57-60

Department of Otolaryngology,Second Affiliated Hospital of Xi'an Jiaotong University,Xi'an,710004,China.

To establish a new method for detecting vestibular function by testing cervical vestibular-evoked myogenic potential induced by galvanic vestibular stimulation in normal population. Twenty normal ears were tested for cervical vestibular evoked myogenic potential induced by galvanic vestibular stimulation. SPSS 18. Read More

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http://dx.doi.org/10.13201/j.issn.1001-1781.2020.01.014DOI Listing
January 2020

The characteristics of monosyllable recognition in Mandarin-speaking patients with auditory neuropathy.

Acta Otolaryngol 2020 Jun 18;140(6):479-486. Epub 2020 Feb 18.

Department of Otolaryngology, Head and Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China.

A set of Chinese Mandarin monosyllable test lists has been widely used in clinical diagnosis, while the performance of the Mandarin-speaking patients with auditory neuropathy (AN) in the monosyllable tests was still unknown. To analyze the characteristics of monosyllable recognition in Mandarin-speaking patients with AN. Nineteen Mandarin-speaking patients diagnosed with AN were recruited to obtain the performance-intensity (P-I) functions. Read More

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http://dx.doi.org/10.1080/00016489.2020.1726459DOI Listing

Long-term treatment outcomes in children with auditory neuropathy spectrum disorder (ANSD).

Int J Pediatr Otorhinolaryngol 2020 Feb 7;132:109938. Epub 2020 Feb 7.

Department of Otorhinolaryngology, Plastic, Esthetic and Reconstructive Head and Neck Surgery, University of Wuerzburg, Josef-Schneider-Str. 11, 97080, Wuerzburg, Germany.

Introduction: The present article shows long-term results in the hearing and speech development of children with auditory neuropathy spectrum disorder (ANSD). Some children were followed up for nearly 20 years, monitoring their progress through childhood into adulthood.

Methods: This retrospective study examined data from 10 children who were diagnosed and treated at our tertiary referral center. Read More

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http://dx.doi.org/10.1016/j.ijporl.2020.109938DOI Listing
February 2020

A juvenile ALS-like phenotype dramatically improved after high-dose riboflavin treatment.

Ann Clin Transl Neurol 2020 02 5;7(2):250-253. Epub 2020 Feb 5.

Department of Neurology, Groupe Hospitalier Pitié-Salpêtrière (AP-HP), 47-83 Boulevard de l'Hôpital, 75013, Paris, France.

Riboflavin transporter deficiency (RTD) was recently characterized as a cause of genetic recessive childhood-onset motor neuron disease (MND) with hearing loss, formerly described as Brown-Vialetto-Van-Lear syndrome. We describe a 18-year-old woman with probable RTD mimicking juvenile Amyotrophic Lateral Sclerosis (ALS) who presented with an inaugural respiratory failure and moderate distal four limbs weakness. Only one heterozygous SLC52A3 mutation was detected, but presence of a sub-clinical auditory neuropathy and dramatic improvement under high dose riboflavin argued for a RTD. Read More

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http://dx.doi.org/10.1002/acn3.50977DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7034506PMC
February 2020

Postoperative Intracochlear Electrocochleography in Pediatric Cochlear Implant Recipients: Association to Audiometric Thresholds and Auditory Performance.

Ear Hear 2020 Jan 21. Epub 2020 Jan 21.

Department of Otorhinolaryngology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.

Objectives: The aim of this study was to compare intracochlear-recorded cochlear microphonics (CM) responses to behavioral audiometry thresholds in young children, with congenital hearing loss, 2 to 5 years after cochlear implantation early in life. In addition, differences in speech and auditory outcomes were assessed among children with and without residual hearing.

Design: The study was conducted at a tertiary, university-affiliated, pediatric medical center. Read More

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http://dx.doi.org/10.1097/AUD.0000000000000833DOI Listing
January 2020

Music and psychoacoustic perception abilities in cochlear implant users with auditory neuropathy spectrum disorder.

Int J Pediatr Otorhinolaryngol 2020 Apr 7;131:109865. Epub 2020 Jan 7.

Marmara University Faculty of Medicine, Audiology Department, İstanbul, Turkey.

Objective: Auditory neuropathy spectrum disorder (ANSD) is a condition wherein the pre-neural or cochlear outer hair cell activity is intact, but the neural activity in the auditory nerve is disrupted. Cochlear implant (CI) can be beneficial for subjects with ANSD; however, little is known about the music perception and psychoacoustic abilities of CI users with ANSD. Music perception in CI users is a multidimensional and complex ability requiring the contribution of both auditory and nonauditory abilities. Read More

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http://dx.doi.org/10.1016/j.ijporl.2020.109865DOI Listing

Case report of two children with auditory neuropathy spectrum disorder related to a neurofascin (NFASC) gene variant.

Int J Pediatr Otorhinolaryngol 2020 Apr 7;131:109863. Epub 2020 Jan 7.

Department of Otolaryngology-Head and Neck Surgery, Indiana University, Indianapolis, IN, USA. Electronic address:

We present a case of two siblings born to nonconsanguineous parents that presented with hypotonia, respiratory insufficiency, and auditory neuropathy spectrum disorder (ANSD) correlated with NFASC (MIM: 609145) and the homozygous loss of function variant p.P924RfsX35. This appears to be the first two reported cases of NFASC correlated with ANSD. Read More

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http://dx.doi.org/10.1016/j.ijporl.2020.109863DOI Listing

Can Differences in Early Hearing Development Be Distinguished by the LittlEARs Auditory Questionnaire?

Ear Hear 2020 Jul/Aug;41(4):998-1008

Archie's Cochlear Implant Laboratory, The Hospital for Sick Children, Toronto, Ontario, Canada.

Objective: This study asks whether the LittlEARs Auditory Questionnaire (LEAQ), a caregiver measure, can differentiate between the early auditory development of children with bilateral cochlear implants (CIs), bilateral hearing aids (HAs), and children with Auditory Neuropathy Spectrum Disorder (ANSD) who wear CIs or HAs. The LEAQ is sensitive to impaired auditory development but has not previously been used to distinguish developmental changes between groups of children using different hearing technologies or with different types of hearing loss.

Design: We collected retrospective longitudinal LEAQ results from 43 children with HAs, 43 with CIs, and 18 with ANSD. Read More

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http://dx.doi.org/10.1097/AUD.0000000000000821DOI Listing
January 2020

Etiology of newborn hearing impairment in Guangdong province: 10-year experience with screening, diagnosis, and follow-up.

World J Pediatr 2020 Jun 7;16(3):305-313. Epub 2020 Jan 7.

Division of Otology, Department of Otorhinolaryngology, Head and Neck Surgery, Third Affiliated Hospital of Sun Yat-Sen University, Guangzhou, China.

Background: Hearing impairment is one of the most common birth defects in children. Universal newborn hearing screenings have been performed for 19 years in Guangdong province, China. A screening/diagnosis/intervention system has gradually been put in place. Read More

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http://dx.doi.org/10.1007/s12519-019-00325-4DOI Listing

Isolated auditory neuropathy at birth in congenital cytomegalovirus infection.

Ital J Pediatr 2020 Jan 6;46(1). Epub 2020 Jan 6.

Department of Sense Organs, "Sapienza" University of Rome, Rome, Italy.

Background: Congenital cytomegalovirus (cCMV) infection is the most frequent non-genetic cause of sensorineural hearing-loss (SNHL) (i.e., hearing loss due to a cochlear and/or auditory nerve damage). Read More

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http://dx.doi.org/10.1186/s13052-019-0767-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6945599PMC
January 2020

Novel OTOF pathogenic variant segregating with non-syndromic hearing loss in a consanguineous family from tribal Rajouri in Jammu and Kashmir.

Int J Pediatr Otorhinolaryngol 2020 Mar 16;130:109831. Epub 2019 Dec 16.

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, 33136, USA.

Background: Hereditary hearing loss is characterized by a very high genetic heterogeneity. The OTOF (Locus: DFNB9), encoding otoferlin, is reported to be one of the major causes of non-syndromic hearing loss, and is also reported to be the most common cause of non-syndromic recessive auditory neuropathy spectrum disorder.

Methods: In this study, whole exome sequencing was employed for detection of novel pathogenic variant that segregates with autosomal recessive nonsyndromic hearing loss in a tribal family from Rajouri, Jammu and Kashmir. Read More

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http://dx.doi.org/10.1016/j.ijporl.2019.109831DOI Listing

Parents' View on Quality of Life after Cochlear Implantation in Children with Auditory Neuropathy.

J Int Adv Otol 2019 Dec;15(3):338-344

Department of Otorhinolaryngology, Baskent University Hospital, İzmir, Turkey.

Objectives: The aim of this study is to evaluate the quality of life in pediatric patients with auditory neuropathy according to the perspective of their parents after cochlear implantation.

Materials And Methods: The pediatric patients, who underwent cochlear implantation with the diagnosis of auditory neuropathy at İzmir Bozyaka Training and Research Hospital ENT Clinic between January 1997 and May 2017, were included to the study. "Parents' Perspective Questionnaire" developed by Nottingham Pediatric Cochlear Implant Programme was used in the study. Read More

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http://dx.doi.org/10.5152/iao.2019.6103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6937187PMC
December 2019

Candidacy for Amplification in Children With Hearing Loss: A Review of Guidelines and Recommendations.

Am J Audiol 2019 Dec 12;28(4):1025-1045. Epub 2019 Dec 12.

Faculty of Health Sciences, University of Ottawa, Ontario, Canada.

Purpose The 1st point in the intervention process for the majority of children is the fitting of hearing devices. The objective of this review was to compile guidelines and recommendations for candidacy criteria for children with hearing loss. Method Electronic databases (e. Read More

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http://dx.doi.org/10.1044/2019_AJA-19-0061DOI Listing
December 2019

Auditory Neuropathy Spectrum Disorder due to Two Novel Compound Heterozygous Mutations in Two Chinese Families.

Neural Plast 2019 18;2019:9765276. Epub 2019 Nov 18.

Department of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China.

Auditory neuropathy spectrum disorder (ANSD), also called auditory neuropathy (AN), is a unique type of prelingual hearing impairment. Up to 10% of deaf infants and children are affected by this disease. Mutation of the gene which encodes otoferlin is the common cause of congenital nonsyndromic ANSD. Read More

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http://dx.doi.org/10.1155/2019/9765276DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6885821PMC
November 2019

Phrases in noise test (PINT) Brazil: effectiveness of the test in children with hearing loss.

Braz J Otorhinolaryngol 2019 Sep 18. Epub 2019 Sep 18.

Universidade de São Paulo (USP), Faculdade de Odontologia de Bauru (FOB), Departamento de Odontopediatria, Ortodontia e Saúde Coletiva, Bauru, SP, Brazil.

Introduction: One of the main implications of hearing impairment is the difficulty in perceiving speech sounds, especially in noisy environments. Thus, the frequency-modulated system is considered an important educational tool for children with hearing impairment because it improves speech perception in acoustically-unfavorable environments, such as in the classroom. The assessment of speech perception in noise is included in the verification protocol of this device. Read More

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http://dx.doi.org/10.1016/j.bjorl.2019.07.010DOI Listing
September 2019

Outcomes of audiometric testing in children with auditory neuropathy spectrum disorder.

Int J Pediatr Otorhinolaryngol 2020 Feb 31;129:109757. Epub 2019 Oct 31.

Cleveland Clinic, Head and Neck Institute, USA. Electronic address:

Introduction: Auditory Neuropathy Spectrum Disorder (ANSD) is characterized by hearing loss ranging from normal to profound. Additionally, results are confounded by commonly fluctuating hearing thresholds in ANSD. As such, we sought to evaluate results of audiometric testing on children with ANSD and the impact of age and time on testing results. Read More

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http://dx.doi.org/10.1016/j.ijporl.2019.109757DOI Listing
February 2020

Autosomal dominant optic atrophy with gene mutations accompanied by auditory neuropathy and other systemic complications in a Japanese cohort.

Mol Vis 2019 5;25:559-573. Epub 2019 Oct 5.

Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.

Purpose: This study aimed to describe the genetic and clinical characteristics of four Japanese patients with autosomal dominant optic atrophy (DOA) accompanied by auditory neuropathy and other systemic complications (i.e., DOA-plus disease). Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6798706PMC

Diabetes and Auditory-Vestibular Pathology.

Semin Hear 2019 Nov 9;40(4):292-299. Epub 2019 Oct 9.

Department of Otolaryngology and Communicative Sciences, University of Mississippi Medical Center, Jackson, Mississippi.

The relationship between diabetes mellitus (DM) and the auditory/vestibular system has been investigated for more than a century. Most population-based investigations of hearing loss in persons with diabetes (PWD) have revealed a slow progressive, bilateral, high-frequency sensorineural hearing loss. Despite the growing research literature on the pathophysiology of DM-related hearing loss using various animal models and other human studies, knowledge of specific mechanism of the degenerative changes of the inner ear and/or auditory nerve is far from full elucidation. Read More

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http://dx.doi.org/10.1055/s-0039-1697033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6785331PMC
November 2019
4 Reads

Evaluation and therapy outcome in children with auditory neuropathy spectrum disorder (ANSD).

Int J Pediatr Otorhinolaryngol 2019 Dec 13;127:109681. Epub 2019 Sep 13.

Department of Otorhinolaryngology, Plastic, Esthetic and Reconstructive Head and Neck Surgery, University of Wuerzburg, Josef-Schneider-Str. 11, 97080, Wuerzburg, Germany.

Objectives: The aims of the present study are to: describe diagnostic findings in patients with auditory neuropathy spectrum disorder (ANSD); and demonstrate the outcomes of different therapies like hearing aids (HAs) or cochlear implantation.

Methods: 32 children were diagnosed and treated at our tertiary referral center and provided with HAs or cochlear implants (CIs). All of them underwent free-field or pure-tone audiometry. Read More

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http://dx.doi.org/10.1016/j.ijporl.2019.109681DOI Listing
December 2019
2 Reads

Hearing screening outcome in neonatal intensive care unit graduates from a tertiary care centre in Singapore.

Child Care Health Dev 2020 Jan 4;46(1):104-110. Epub 2019 Nov 4.

Department of Child Development, KK Women's and Children's Hospital, Singapore.

Background: We aimed to analyse the outcome of universal newborn hearing screening (UNHS) and high-risk hearing screening in neonatal intensive care unit (NICU) graduates in a tertiary care unit.

Methods: The hearing screen programme comprises a 2-stage automated auditory brainstem response protocol followed by a high-risk hearing screen at 3-6 months. This study is a retrospective study of NICU graduates born between April 2002 and December 2009. Read More

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http://dx.doi.org/10.1111/cch.12717DOI Listing
January 2020
1 Read

Infantile neuroaxonal dystrophy in a pair of Malaysian siblings with progressive cerebellar atrophy: Description of an expanded phenotype with novel PLA2G6 variants.

J Clin Neurosci 2020 Jan 4;71:289-292. Epub 2019 Sep 4.

Genetics and Metabolism Unit, Department of Paediatrics, Faculty of Medicine, University Malaya, Kuala Lumpur, Malaysia. Electronic address:

Infantile neuroaxonal dystrophy 1 (INAD) (OMIM #256600) is a rare infantile onset neurodegenerative disease characterised by neuroregression and hypotonia, evolving into generalized spasticity, blindness and dementia. We report our diagnostic approach of a pair of siblings with psychomotor regression, hypotonia, optic atrophy and auditory neuropathy. The brain magnetic resonance imaging (MRI) showed progressive cerebellar atrophy. Read More

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http://dx.doi.org/10.1016/j.jocn.2019.08.111DOI Listing
January 2020
3 Reads

Auditory synaptopathy, auditory neuropathy, and cochlear implantation.

Laryngoscope Investig Otolaryngol 2019 Aug 1;4(4):429-440. Epub 2019 Jul 1.

Department of Otolaryngology-Head and Neck Surgery University of Iowa Carver College of Medicine Iowa City Iowa U.S.A.

Cochlear implantation has become the standard-of-care for adults and children with severe to profound hearing loss. There is growing evidence that qualitative as well as quantitative deficits in the auditory nerve may affect cochlear implant (CI) outcomes. Auditory neuropathy spectrum disorder (ANSD) is characterized by dysfunctional transmission of sound from the cochlea to the brain due to defective synaptic function or neural conduction. Read More

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http://dx.doi.org/10.1002/lio2.288DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6703118PMC

[Clinical characteristics and treatment options of hearing impairment caused by hyperbilirubinemia].

Authors:
H B Shi C Y Li

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2019 Aug;33(8):685-687

Neonatal hyperbilirubinemia is the most common clinical symptom in neonates. When the concentration of free bilirubin in blood is too high, it crosses through the blood-brain barrier and selectively deposits in specific brain nuclei to cause neurotoxicity and bilirubin neurological dysfunction. The auditory nervous system is highly sensitive to bilirubin. Read More

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http://dx.doi.org/10.13201/j.issn.1001-1781.2019.08.001DOI Listing

[One case report of Mohr-Tranebjærg syndrome].

Authors:
Y Y Huang J Yang

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2019 Sep;33(9):848-849

A 4-year-old male patient was found poor development in hearing and speech, without family hereditary history. Hearing screening was failed at birth. From the age of 2, the patient showed poor response to sound and speech, but no audiological examination was carried out. Read More

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http://dx.doi.org/10.13201/j.issn.1001-1781.2019.09.012DOI Listing
September 2019
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Comprehensive analysis of syndromic hearing loss patients in Japan.

Sci Rep 2019 08 19;9(1):11976. Epub 2019 Aug 19.

Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan.

More than 400 syndromes associated with hearing loss and other symptoms have been described, corresponding to 30% of cases of hereditary hearing loss. In this study we aimed to clarify the mutation spectrum of syndromic hearing loss patients in Japan by using next-generation sequencing analysis with a multiple syndromic targeted resequencing panel (36 target genes). We analyzed single nucleotide variants, small insertions, deletions and copy number variations in the target genes. Read More

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http://dx.doi.org/10.1038/s41598-019-47141-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6700179PMC
August 2019
10 Reads

Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.

Mol Genet Genomic Med 2019 09 8;7(9):e839. Epub 2019 Aug 8.

University of Limoges, MMNP, Limoges, France.

Background: The most common inherited peripheral neuropathy is Charcot-Marie-Tooth disease (CMT), with a prevalence of 1/2500. Other symptoms can be associated to the condition, such as hearing loss. Currently, no global hearing impairment assessment has been determined, and the physiopathology is not well known. Read More

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http://dx.doi.org/10.1002/mgg3.839DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732311PMC
September 2019
3 Reads

The audiologic profile of patients with Charcot-Marie Tooth neuropathy can be characterised by both cochlear and neural deficits.

Int J Audiol 2019 12 18;58(12):902-912. Epub 2019 Jul 18.

Department of Neurology, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.

The primary goal of this study was to characterise the cochlear and neural components of hearing loss in a large cohort of people with Charcot-Marie Tooth neuropathy who reported hearing difficulties. A full complement of audiologic measures including behavioral, physiologic and subjective assessments were administered. Seventy-nine participants completed the study. Read More

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http://dx.doi.org/10.1080/14992027.2019.1633022DOI Listing
December 2019
1 Read

Auditory brainstem response.

Authors:
Jos J Eggermont

Handb Clin Neurol 2019 ;160:451-464

Department of Psychology, University of Calgary, Calgary, AB, Canada; Department of Physiology and Pharmacology, University of Calgary, Calgary, AB, Canada. Electronic address:

The auditory brainstem response (ABR), consisting of five to six vertex-positive peaks with separation of about 0.8ms, is very sensitive to factors that affect conduction velocity and hence ABR wave latencies in the brainstem auditory pathways. In addition, disorders causing dissynchronization of neural activity result in an amplitude decrease or disappearance of ABR peaks. Read More

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http://dx.doi.org/10.1016/B978-0-444-64032-1.00030-8DOI Listing
December 2019
13 Reads