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Hearing Disorders: HELP
Articles by Margaret A. Kenna
Based on 25 articles published since 2010
(Why 25 articles?)
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Between 2010 and 2020, Margaret Kenna wrote the following 25 articles about Hearing Disorders.
 
+ Citations + Abstracts
1 Guideline International Pediatric Otolaryngology Group (IPOG) consensus recommendations: Hearing loss in the pediatric patient. 2016

Liming, Bryan J / Carter, John / Cheng, Alan / Choo, Daniel / Curotta, John / Carvalho, Daniela / Germiller, John A / Hone, Stephen / Kenna, Margaret A / Loundon, Natalie / Preciado, Diego / Schilder, Anne / Reilly, Brian J / Roman, Stephane / Strychowsky, Julie / Triglia, Jean-Michel / Young, Nancy / Smith, Richard J H. ·Department of Otolaryngology -Head and Neck Surgery, University of Iowa Health Care, Iowa City, IA, USA. Electronic address: Bryan-liming@uiowa.edu. · Department of Otolaryngology- Head and Neck Surgery, Ochsner Medical Center, New Orleans, LA, USA. · Sydney Children's Hospital Network, Sydney, Australia. · Cincinnati Children's Hospital, Cincinnati, OH, USA. · Rady Children's Hospital, San Diego, CA, USA. · Children's Hospital of Philadelphia, Philadelphia PA, USA. · Our Lady's Children's Hospital, Crumlin, Dublin, Ireland. · Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Boston MA, USA. · Pediatric ENT Department, Hopital Necker-Enfants Malades, AP-HP Universite Paris Descartes, Paris, France. · Department of Otolaryngology, Children's National Hospital, Washington DC, USA. · Evident, UCL Ear Institute, Royal National Throat, Nose and Ear Hospital, London UK. · Department of Pediatric Otolaryngology, La Timone Children's Hospital, Aix-Marseille Universite', Marseille, France. · Paediatric Otolaryngology-Head and Neck Surgery-Children's Hospital at London Health Sciences Centre, London, Ontario, Canada. · Division of Otolaryngology-Head and Neck Surgery, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago IL, USA. · Department of Otolaryngology -Head and Neck Surgery, University of Iowa Health Care, Iowa City, IA, USA. ·Int J Pediatr Otorhinolaryngol · Pubmed #27729144.

ABSTRACT: OBJECTIVE: To provide recommendations for the workup of hearing loss in the pediatric patient. METHODS: Expert opinion by the members of the International Pediatric Otolaryngology Group. RESULTS: Consensus recommendations include initial screening and diagnosis as well as the workup of sensorineural, conductive and mixed hearing loss in children. The consensus statement discusses the role of genetic testing and imaging and provides algorithms to guide the workup of children with hearing loss. CONCLUSION: The workup of children with hearing loss can be guided by the recommendations provided herein.

2 Review Acquired Hearing Loss in Children. 2015

Kenna, Margaret A. ·Otolaryngology and Communication Enhancement, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, BCH3129, Boston, MA 02115, USA. Electronic address: Margaret.kenna@childrens.harvard.edu. ·Otolaryngol Clin North Am · Pubmed #26452421.

ABSTRACT: Hearing loss is the most common congenital sensory impairment. According to National Health and Nutrition Examination Survey data from 2001 to 2008, 20.3% of subjects aged greater than or equal to 12 had unilateral or bilateral hearing loss. The World Health Organization notes that, worldwide, there are 360 million people with disabling hearing loss, with 50% preventable. Although many hearing losses are acquired, many others are manifestations of preexisting conditions. The purpose of a pediatric hearing evaluation is to identify the degree and type of hearing loss and etiology and to outline a comprehensive strategy that supports language and social development and communication.

3 Review Enlarged vestibular aqueduct: review of controversial aspects. 2011

Gopen, Quinton / Zhou, Guangwei / Whittemore, Kenneth / Kenna, Margaret. ·Division of Head and Neck Surgery, U.C.L.A. Medical Center, 200 Medical Plaza, Suite 550, Los Angeles, CA 90095, USA. qgopen@mednet.ucla.edu ·Laryngoscope · Pubmed #22024854.

ABSTRACT: OBJECTIVES: To review the controversial aspects of the enlarged vestibular aqueduct syndrome. STUDY DESIGN: Contemporary review. METHODS: A literature search using the terms "enlarged vestibular aqueduct and large vestibular aqueduct" were used to generate the articles for review in this article. RESULTS: The enlarged vestibular aqueduct is a condition causing variable auditory and vestibular dysfunction. Although it has been 32 years since Valvasorri and Clemis recognized the clinical importance of the enlarged vestibular aqueduct, many controversial aspects of the diagnosis remain. The topics reviewed in this discussion are as follows: size criteria for radiographic diagnosis, precipitating factors for hearing loss, corticosteroid treatment and sac surgery, conductive component to hearing loss, natural progression of hearing loss, correlations between aqueduct size and hearing loss, genetics, vestibular symptoms, and theories regarding mechanisms behind the symptoms. CONCLUSION: The enlarged vestibular aqueduct remains a controversial entity with variable presentation, progression, and prognosis.

4 Review Is computed tomography (CT) or magnetic resonance imaging (MRI) more useful in the evaluation of pediatric sensorineural hearing loss? 2010

Licameli, Greg / Kenna, Margaret A. ·Department of Otolaryngology and Communication Enhancement, Children's Hospital Boston, Massachusetts, USA. greg.licameli@childrens.harvard.edu ·Laryngoscope · Pubmed #21108424.

ABSTRACT: -- No abstract --

5 Article Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss. 2018

Oza, Andrea M / DiStefano, Marina T / Hemphill, Sarah E / Cushman, Brandon J / Grant, Andrew R / Siegert, Rebecca K / Shen, Jun / Chapin, Alex / Boczek, Nicole J / Schimmenti, Lisa A / Murry, Jaclyn B / Hasadsri, Linda / Nara, Kiyomitsu / Kenna, Margaret / Booth, Kevin T / Azaiez, Hela / Griffith, Andrew / Avraham, Karen B / Kremer, Hannie / Rehm, Heidi L / Amr, Sami S / Abou Tayoun, Ahmad N / Anonymous8740964. ·Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts. · Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Boston, Massachusetts. · Harvard Medical School, Boston, Massachusetts. · Department of Pathology, Brigham & Women's Hospital, Boston, Massachusetts. · ARUP Laboratories, Salt Lake City, Utah. · Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota. · Department of Otorhinolaryngology, Clinical Genomics and Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota. · Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan. · Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospital and Clinics, Iowa City, Iowa. · The Interdisciplinary Graduate Program in Molecular Medicine, Carver College of Medicine, University of Iowa, Iowa City, Iowa. · Audiology Unit, National Institute on Deafness and Other Communication Disorders (NIDCD), NIH, Bethesda, Maryland. · Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel. · Department of Otorhinolaryngology and Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. · Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts. · The Broad Institute of MIT and Harvard, Cambridge, Massachusetts. · The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania. · The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania. ·Hum Mutat · Pubmed #30311386.

ABSTRACT: Due to the high genetic heterogeneity of hearing loss (HL), current clinical testing includes sequencing large numbers of genes, which often yields a significant number of novel variants. Therefore, the standardization of variant interpretation is crucial to provide consistent and accurate diagnoses. The Hearing Loss Variant Curation Expert Panel was created within the Clinical Genome Resource to provide expert guidance for standardized genomic interpretation in the context of HL. As one of its major tasks, our Expert Panel has adapted the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines for the interpretation of sequence variants in HL genes. Here, we provide a comprehensive illustration of the newly specified ACMG/AMP HL rules. Three rules remained unchanged, four rules were removed, and the remaining 21 rules were specified. These rules were further validated and refined using a pilot set of 51 variants assessed by curators and disease experts. Of the 51 variants evaluated in the pilot, 37% (19/51) changed category based upon application of the expert panel specified rules and/or aggregation of evidence across laboratories. These HL-specific ACMG/AMP rules will help standardize variant interpretation, ultimately leading to better care for individuals with HL.

6 Article Validation of a portable hearing assessment tool: Agilis Health Mobile Audiogram. 2018

Manganella, Juliana L / Stiles, Derek J / Kawai, Kosuke / Barrett, Devon L / O'Brien, Laura B / Kenna, Margaret A. ·Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital. 300 Longwood Avenue, BCH-3129, Boston, MA 02115, USA. · Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital. 300 Longwood Avenue, BCH-3129, Boston, MA 02115, USA; Department of Otolaryngology, Harvard Medical School. 25 Shattuck Street, Boston, MA 02115, USA. · Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital. 300 Longwood Avenue, BCH-3129, Boston, MA 02115, USA; Department of Otolaryngology, Harvard Medical School. 25 Shattuck Street, Boston, MA 02115, USA. Electronic address: margaret.kenna@childrens.harvard.edu. ·Int J Pediatr Otorhinolaryngol · Pubmed #30174018.

ABSTRACT: OBJECTIVES: To examine if the tablet-based Agilis Health Mobile Audiogram (Agilis Audiogram) is an effective and valid measure of hearing thresholds compared to a pure-tone audiogram in an adult and pediatric population. METHODS: Participants underwent an otologic exam, conventional audiometric evaluation and the self-administered Agilis Audiogram. We examined whether the difference of pure-tone average (PTA) between the two measurement techniques fell within the equivalence range of ±8 dB. The Agilis Audiogram was administered twice for each subject to assess test-retest reliability of the application. RESULTS: A total of 54 ears from 27 participants were evaluated. The average time to complete the self-administered Agilis Audiogram was 10 min. Among participants with normal hearing, the average PTA from conventional audiometric evaluation was 8.9 dB (±3.8) and the average PTA from the Agilis Audiogram was 8.5 dB (±4.5), with mean difference of 0.4 dB (±4.2; 95% CI -1.0 to 1.7 dB) falling within the equivalence range (-8 to 8 dB). Among participants with confirmed hearing loss, the average PTA was 22.5 dB (±17.1) from conventional audiometric evaluation and 24.3 dB (±16.6) from the Agilis Audiogram, with mean difference of -1.8 dB (±5.4; 95% CI -4.9 to 1.3 dB), falling within the equivalence range. Overall, there was a significant correlation between conventional audiometric evaluation and the Agilis Audiogram (Pearson correlation = 0.93; p < 0.001). CONCLUSION: Thresholds obtained by the Agilis Audiogram were found to be a valid measure of hearing among adults with normal hearing and children with hearing loss in the mild-moderate range.

7 Article Does Clarithromycin Cause Hearing Loss? A 12-Year Review of Clarithromycin Therapy for Nontuberculous Mycobacterial Lymphadenitis in Children. 2018

Heffernan, Colleen B / McKeon, Mallory G / Molony, Sasha / Kawai, Kosuke / Stiles, Derek J / Lachenauer, Catherine S / Kenna, Margaret A / Watters, Karen. ·1 Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Boston, Massachusetts, USA. · 2 Department of Otolaryngology, Royal Hospital for Children, Glasgow, UK. · 3 Department of Otolaryngology, Harvard Medical School, Boston, Massachusetts, USA. · 4 Division of Infectious Diseases, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts, USA. ·Ann Otol Rhinol Laryngol · Pubmed #30032669.

ABSTRACT: OBJECTIVE(S): The objective was to describe the characteristics of hearing losses documented in patients treated with clarithromycin alone for nontuberculous mycobacterial NTM lymphadenitis in a pediatric tertiary care center over a 12-year period. METHODS: An institutional review board (IRB) approval was obtained. A database search was performed using the ICD-10 diagnosis codes 31.0, 31.1, and 31.8 between January 2004 and January 2017. A REDCap database was created to record variables. Patients were included if they received clarithromycin alone and had, at the minimum, a baseline audiology assessment, and 1 further evaluation during treatment. Fisher's exact test was used to analyze categorical variables, and Wilcoxon rank sum test was used to analyze continuous variables. RESULTS: A total of 167 patients with cervicofacial NTM were identified. Of them, 42 patients fulfilled inclusion criteria. Three children (7%) developed a hearing loss (HL) between 25 and 63 days after starting treatment. HL was unilateral in 2 children. HL persisted in 1 child following cessation of treatment. However, this patient had Rubinstein Taybi syndrome, limiting our ability to attribute the HL solely to clarithromycin. CONCLUSION: We noted a 7% hearing loss rate in our series. Confounding issues, such as 1 patient with a syndrome potentially contributing to HL, and limitations to this study, including retrospective design and loss to follow-up, temper our ability to conclude that clarithromycin was the sole cause of these HL. However, enough supporting data for a role in clarithromycin causing HL exist that testing should be considered for patients undergoing long-term clarithromycin treatment.

8 Article Revision cochlear implant surgery in children: Surgical and audiological outcomes. 2018

Yeung, Jeffrey / Griffin, Amanda / Newton, Stephen / Kenna, Margaret / Licameli, Greg R. ·Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts. · Pediatric Otolaryngology, Children's Hospital Colorado, Department of Otolaryngology, University of Colorado, Aurora, Colorado, U.S.A. ·Laryngoscope · Pubmed #29729014.

ABSTRACT: OBJECTIVES/HYPOTHESIS: To determine the incidence of cochlear implant failure and to examine surgical and audiological outcomes. STUDY DESIGN: Retrospective review, case series. METHODS: This study sought indications for revision surgery, surgical findings, and outcomes, and audiological outcomes in pediatric cochlear implant patients. Pre- and postcochlear reimplantation word recognition performance was analyzed using a modified version of the Pediatric Ranked Order Speech Perception (PROSPER) score. RESULTS: Over a 20-year period, a total of 868 cochlear implants were performed in 578 patients. The overall institutional reimplant rate was 5.9%. The indications for explantation were hard failure (30), soft failure (23), and medical/surgical indication (13). A significant portion of devices belonged to vendor recalled batches (15) or were damaged by head trauma (eight). Full electrode insertion was achieved in all 62 reimplantations. Post-reimplantation Boston Children's Hospital modified PROSER scores were either stable or improved compared to pre-reimplantation scores. CONCLUSIONS: The need for cochlear implant revision/reimplantation is infrequent, but the rate is not inconsequential. Hard and soft device failures account for the majority of reimplants. Surgical complications during reimplantation is low, and post-reimplantation audiological performance is excellent. LEVEL OF EVIDENCE: 4. Laryngoscope, 2619-2624, 2018.

9 Article Otolaryngologic Manifestations of Klippel-Feil Syndrome in Children. 2018

Kenna, Margaret A / Irace, Alexandria L / Strychowsky, Julie E / Kawai, Kosuke / Barrett, Devon / Manganella, Juliana / Cunningham, Michael J. ·Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Boston, Massachusetts. · Department of Otolaryngology, Harvard Medical School, Boston, Massachusetts. · Department of Otolaryngology-Head and Neck Surgery, Western University, London, Ontario, Canada. ·JAMA Otolaryngol Head Neck Surg · Pubmed #29372238.

ABSTRACT: Importance: Children with Klippel-Feil syndrome (KFS), characterized principally by abnormal fusion of 2 or more cervical vertebrae, may have many additional congenital anomalies. The overall prevalence of otolaryngologic manifestations among patients with KFS has not been previously characterized. Objective: To define the otolaryngologic diagnoses made and procedures performed in 95 patients with KFS, which, to our knowledge, is the largest series of this challenging patient population published to date. Design, Setting, and Participants: For this retrospective review, all patients with KFS who underwent otolaryngology consultation at our institution over a 26-year period (January 1989 to December 2015) were included. Patients were identified using International Classification of Diseases, Ninth Revision (ICD-9) codes and were confirmed through individual medical record review. Relevant otolaryngologic diagnoses and procedures were extracted using ICD-9 and Current Procedural Terminology codes, respectively. Selected demographics included age, sex, number of clinic visits, and number of procedures. Main Outcomes and Measures: The primary outcomes were the otolaryngologic diagnoses and procedures associated with the KFS patient population; the secondary outcome was Cormack-Lehane classification documented during airway procedures. Results: Overall, 95 patients with KFS were included in this study (55 males [58%] and 40 females [42%]); mean (range) age at time of presentation to the otorhinolaryngology clinic was 5.8 (birth-23.0) years. Each patient with KFS averaged 8 visits to the otorhinolaryngology office and 5 otolaryngologic diagnoses. The most common diagnosis was conductive hearing loss (n = 49 [52%]), followed by sensorineural hearing loss (n = 38 [40%]), and dysphagia (n = 37 [39%]). Sixty-two (65%) patients underwent otolaryngologic procedures, with 44 (46%) undergoing multiple procedures. The most common procedure was tympanostomy tube placement (n = 36 [38%]), followed by office flexible endoscopy (n = 23 [24%]). Twelve of the 20 patients who underwent direct laryngoscopy had documented Cormack-Lehane classification; 5 of 12 patients (42%) had a compromised view (grade 2, 3, or 4) of the larynx. Three patients required tracheotomies at this institution for airway stabilization purposes; each had severe upper airway obstruction leading to respiratory failure. Conclusions and Relevance: Patients with KFS require consultation for a variety of otolaryngologic conditions. Among these, hearing loss is the most common, but airway issues related to cervical spine fusion are the most challenging. Formulating an appropriate care plan in advance is paramount, even for routine otolaryngology procedures.

10 Article Enlarged Vestibular Aqueduct and Cochlear Implants: The Effect of Early Counseling on the Length of Time Between Candidacy and Implantation. 2018

Bostic, Katlyn / Lewis, Rebecca M / Chai, Brianna / Manganella, Juliana L / Barrett, Devon L / Kawai, Kosuke / Kenna, Margaret A / Stiles, Derek J / Clark, Terrell. ·Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital. · Department of Otolaryngology, Harvard Medical School, Boston, Massachusetts. ·Otol Neurotol · Pubmed #29315182.

ABSTRACT: OBJECTIVE: To determine if discussing cochlear implantation (CI) with patients with enlarged vestibular aqueducts (EVA) and their families before reaching audiological criteria for CI candidacy effects the length of time between reaching audiological candidacy and CI surgery, and to describe the universal newborn hearing screening (UNHS) results and communication modality in this sample. PATIENTS: Forty-two patients (25 females) with confirmed EVA and cochlear implants. INTERVENTION(S): Diagnostic CI visit. MAIN OUTCOME MEASURES: The primary outcome measure is the difference in length of time between reaching audiological candidacy for CI and surgical implantation between those who had preliminary discussions regarding CI with their medical and healthcare providers before reaching audiological candidacy versus who had discussions after reaching candidacy. The secondary outcome measure is the result of the UNHS and primary mode of communication used by each patient. RESULTS: Discussing CI before reaching audiological candidacy was associated with a significantly shorter duration between reaching audiological candidacy and receiving CI (median = 3.1 mo; interquartile range [IQR] = 1.7-5.4) as compared with discussing CI after reaching candidacy (median = 5.8 mo; IQR = 3.2-11.2; p = 0.012). Participants born after the implementation of the UNHS, 16 of 24 patients referred on one or both ears. Communication modalities were evenly divided between utilizing sign-support English and oral/aural communicators only. CONCLUSIONS: Discussion of CI in patients with EVA before reaching audiological candidacy reduces the amount of time the child is without adequate auditory access and contributes to a constructive and interactive preparatory experience.

11 Article Hearing loss associated with enlarged vestibular aqueduct and zero or one mutant allele of SLC26A4. 2017

Rose, Jane / Muskett, Julie A / King, Kelly A / Zalewski, Christopher K / Chattaraj, Parna / Butman, John A / Kenna, Margaret A / Chien, Wade W / Brewer, Carmen C / Griffith, Andrew J. ·Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland. · Radiology and Imaging Sciences, Clinical Center, National Institutes of Health, Bethesda, Maryland. · Department of Otology and Laryngology, Harvard Medical School, Boston, Massachusetts. · Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Boston, Massachusetts. · Office of the Clinical Director, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, U.S.A. ·Laryngoscope · Pubmed #27859305.

ABSTRACT: OBJECTIVES/HYPOTHESIS: To characterize the severity and natural history of hearing loss, and the prevalence of having a cochlear implant in a maturing cohort of individuals with enlarged vestibular aqueduct (EVA) and zero or one mutant allele of SLC26A4. STUDY DESIGN: Prospective cohort study of subjects ascertained between 1998 and 2015 at the National Institutes of Health Clinical Center. METHODS: Study subjects were 127 individuals (median age, 8 years; range, 0-59 years) with EVA in at least one ear. RESULTS: Ears with EVA and zero or one mutant allele of SLC26A4 had mean 0.5/1/2/4-kHz pure-tone averages of 62.6 and 52.9 dB HL, respectively, in contrast to EVA ears with two mutant alleles of SLC26A4 (88.1 dB HL; P < .01). This association was independent of age, sex, or side of EVA (P < .001). Natural history of hearing loss was not associated with number of mutant alleles (P = .94). The prevalence of having a cochlear implant was nine (12%) of 76, two (13%) of 15, and 12 (38%) of 32 subjects with zero, one, and two mutant alleles, respectively (P = .00833). This association was not independent (P = .534) but reflected underlying correlations with age at time of first audiogram (P = .003) or severity of hearing loss (P = .000). CONCLUSIONS: Ears with EVA and zero or one mutant allele of SLC26A4 have less severe hearing loss, no difference in prevalence of fluctuation, and a lower prevalence of cochlear implantation in comparison to ears with two mutant alleles of SLC26A4. LEVEL OF EVIDENCE: NA Laryngoscope, 127:E238-E243, 2017.

12 Article Risk Factors for Hearing Loss in Patients with Cystic Fibrosis. 2016

Tarshish, Yael / Huang, Lin / Jackson, Frank I / Edwards, Julianne / Fligor, Brian / Wilkins, Abigail / Uluer, Ahmet / Sawicki, Gregory / Kenna, Margaret. ·Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Boston, MA. · Clinical Research Center, Boston Children's Hospital, Boston, MA. · Department of Surgery, Harvard Medical School, Boston, MA. · Division of Respiratory Diseases, Boston Children's Hospital, Boston, MA. · Department of Otology and Laryngology, Harvard Medical School, Boston, MA. · Department of Pediatrics, Harvard Medical School, Boston, MA. ·J Am Acad Audiol · Pubmed #26809322.

ABSTRACT: BACKGROUND: Patients with cystic fibrosis (CF) are at increased risk for sensorineural hearing loss (SNHL) due, at least in part, to the ototoxic side effects of routine CF therapies. However, the prevalence of SNHL and additional factors contributing to the development of SNHL are unknown. PURPOSE: To identify risk factors associated with the development of SNHL in a large cohort of CF patients who had been referred for audiometric testing. RESEARCH DESIGN: A retrospective study of audiometric results and medication information in a cohort of patients with CF. STUDY SAMPLE: Records of 178 CF patients seen at Boston Children's Hospital for audiometric testing from 2007 to 2010 were reviewed. Mean age of patients was 18 yr (standard deviation = 10 yr), and 98 (55%) of the patients were female. DATA COLLECTION AND ANALYSIS: Audiometric results, medications, and hospitalizations were recorded. Multivariable logistic regression was used to evaluate the association between SNHL and the number of hospitalizations and chronic antibiotic use in the year prior to the patients' audiometry. RESULTS: In this sample, 37/178 (21%) patients had SNHL. Twenty-nine (78%) of the 37 patients had bilateral SNHL and 8 (22%) had unilateral SNHL. Across all age groups, the majority of patients had a bilateral hearing loss (HL). A multivariable model showed that older age and more frequent hospitalizations were associated with SNHL. The number of courses of chronic antibiotics in the year prior to audiometric testing was not correlated with rate of HL. CONCLUSIONS: This study suggests that age and frequency of hospitalizations are key predictors of HL development. Increased awareness and regular screening for SNHL should be included in the routine care of CF patients, particularly those at the highest risk.

13 Article Atypical patterns of segregation of familial enlargement of the vestibular aqueduct. 2016

Muskett, Julie A / Chattaraj, Parna / Heneghan, John F / Reimold, Fabian R / Shmukler, Boris E / Brewer, Carmen C / King, Kelly A / Zalewski, Christopher K / Shawker, Thomas H / Butman, John A / Kenna, Margaret A / Chien, Wade W / Alper, Seth L / Griffith, Andrew J. ·Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland. · Renal Division, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts. · Radiology and Imaging Sciences, Clinical Center, National Institutes of Health, Bethesda, Maryland. · Department of Otology and Laryngology, Harvard Medical School, Boston, Massachusetts. · Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Boston, Massachusetts. · Office of the Clinical Director, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, U.S.A. ·Laryngoscope · Pubmed #26485571.

ABSTRACT: OBJECTIVES/HYPOTHESIS: Hearing loss and enlarged vestibular aqueduct (EVA) can be inherited as an autosomal recessive trait caused by mutant alleles of the SLC26A4 gene. In some other families, EVA does not segregate in a typical autosomal recessive pattern. The goal of this study was to characterize the SLC26A4 genotypes and phenotypes of extended families with atypical segregation of EVA. STUDY DESIGN: Prospective study of cohort of families ascertained between 1998 and 2014 at the National Institutes of Health Clinical Center. METHODS: Study subjects were members of eight families segregating EVA in at least two members who were not related as siblings. Evaluations included pure-tone audiometry, temporal bone imaging, SLC26A4 nucleotide sequence analysis, SLC26A4-linked marker genotype and haplotype analysis, and pedigree analysis. RESULTS: One family had members with EVA caused by different etiologies, and two families had pseudodominant inheritance of recessive mutations of SLC26A4. In five families, the etiology remained unknown and could include inheritance of mutant alleles at another genetic locus, nongenetic influences, or a combination of these factors. CONCLUSIONS: Familial EVA can demonstrate a variety of atypical segregation patterns. Pseudodominant inheritance of SLC26A4 mutations or recessive alleles of other hearing loss genes may be more likely to occur in families in which deaf individuals have intermarried. The etiologic basis of atypical segregation of EVA without detectable SLC26A4 mutations remains unknown. Future studies of these families may reveal novel genes for EVA. LEVEL OF EVIDENCE: NA Laryngoscope, 126:E240-E247, 2016.

14 Article Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct. 2013

Chattaraj, Parna / Reimold, Fabian R / Muskett, Julie A / Shmukler, Boris E / Chien, Wade W / Madeo, Anne C / Pryor, Shannon P / Zalewski, Christopher K / Butman, John A / Brewer, Carmen C / Kenna, Margaret A / Alper, Seth L / Griffith, Andrew J. ·Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland. ·JAMA Otolaryngol Head Neck Surg · Pubmed #24051746.

ABSTRACT: IMPORTANCE: Approximately one-half of all subjects with unilateral or bilateral hearing loss with enlargement of the vestibular aqueduct (EVA) will have SLC26A4 gene mutations. The number (0, 1, or 2) of mutant alleles of SLC26A4 detected in an individual subject with EVA is each associated with a distinct combination of diagnostic and prognostic information as well as probability of recurrence of EVA in siblings. OBJECTIVE: To evaluate the results of SLC26A4 mutation testing in subjects with unilateral EVA. (The study objective was formulated before data were collected.) DESIGN: Prospective cross-sectional study of cohort ascertained between 1998 and 2012. SETTING: National Institutes of Health Clinical Center, a federal biomedical research facility. PARTICIPANTS: Twenty-four subjects (10 males, 14 females) with unilateral EVA, defined as a midpoint diameter greater than 1.5 mm, who were referred or self-referred to participate in a study about the clinical and molecular analysis of EVA. Twenty-one (87.5%) of 24 subjects were white. Mean age was 10.3 years (age range, 5-39 years). INTERVENTION: SLC26A4 mutation analysis. MAIN OUTCOMES AND MEASURES: Audiometric results, the presence or absence of EVA, and the number of mutant alleles of SLC26A4. RESULTS: Approximately 8.3% of the subjects with unilateral EVA had 2 mutant SLC26A4 alleles, 16.7% had 1 mutant allele, and 75.0% had 0 mutant alleles. CONCLUSIONS AND RELEVANCE: Unilateral EVA can be associated with all possible SLC26A4 genotype results. The distinct combination of prognoses and recurrence probability associated with each genotype supports the clinical use of testing for SLC26A4 mutations in subjects with unilateral EVA.

15 Article Pediatric sudden sensorineural hearing loss: diagnosed causes and response to intervention. 2013

Tarshish, Yael / Leschinski, Alison / Kenna, Margaret. ·Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, 300 Longwood Ave, LO-367, Boston, MA 02115, United States. ·Int J Pediatr Otorhinolaryngol · Pubmed #23369615.

ABSTRACT: OBJECTIVE: Sudden sensorineural hearing loss (SSNHL) is an underappreciated issue in pediatric patient care. The goal of this study was to identify children who met the criteria for SSNHL and examine the etiologies, useful diagnostic studies, and treatment outcomes for these patients. METHODS: A retrospective medical records review was performed in patients meeting the criteria for SSNHL seen at a tertiary care pediatric hospital from 2007 to 2012. Information collected included age, gender, audiometric evaluations, onset and duration of hearing loss, additional symptoms, diagnostic studies and response to any medical management. The Institutional Review Board approved this project. RESULTS: 12/20 patients were male. Mean age was 11.41 years (3 months-24 years). Hearing loss was bilateral in 9/20 patients. Degree of hearing loss ranged from mild to profound across frequencies. Probable etiologies were viral of unknown type (n = 12), late presentation of congenital CMV (n = 1), noise-related (n = 1), non organic (n = 1), enlarged vestibular aqueduct (EVA) (n = 1), one with both acute Epstein-Barr virus (EBV) and significant ototoxic exposure (n = 1), one had significant ototoxic exposure and an inflammatory cerebrovascular incident (n = 1), and unknown (n = 2). Diagnostic studies included temporal bone computed tomography (CT) (n = 15) and/or magnetic resonance imaging (MRI) (n = 15), Lyme titers (n = 9), streptococcal throat culture (n = 1) and EBV (n = 1) and mumps titers (n = 1). Positive diagnostic studies included 1 MRI consistent with congenital CMV, and one CT that showed an EVA . 15/20 patients received systemic steroids, 3 received antivirals, and 4 got antibiotics. Response to steroids varied from complete resolution of SSNHL to worsening. Symptoms reported, in addition to the hearing loss included tinnitus (n = 9), vertigo (n = 9), sensation of a blocked ear (n = 6), and otalgia (n = 4). CONCLUSIONS: The incidence of SSNHL in pediatric patients is unknown. Etiologies of SSNHL include viral, EVA, ototoxicity, noise, and non-organic. Most studies were non-diagnostic although 2/22 CT/MRI provided an etiology. Identification of other causes required careful history review. The incidence of SSNHL in the pediatric population needs to be studied, and the timing, dosage, route and efficacy of steroids further evaluated.

16 Article Frequent association of cochlear nerve canal stenosis with pediatric sensorineural hearing loss. 2012

Wilkins, Abigail / Prabhu, Sanjay P / Huang, Lin / Ogando, Patricia B / Kenna, Margaret A. · ·Arch Otolaryngol Head Neck Surg · Pubmed #22508622.

ABSTRACT: OBJECTIVE: To examine the association between cochlear nerve canal (CNC) dimensions and sensorineural hearing loss (SNHL). DESIGN: Retrospective review. SETTING: Tertiary pediatric hospital. PATIENTS: Children with SNHL and CNC stenosis. INTERVENTION: The CNCs measured in axial and 45° oblique planes on temporal bone computed tomography (TBCT) in children with SNHL were compared with TBCT from children with normal hearing and 100 normal temporal bone specimens. Additional inner ear abnormalities were recorded. Hearing was measured using 4 frequency pure-tone averages (PTAs). MAIN OUTCOME MEASURE: The degree of CNC stenosis related to the degree of SNHL. RESULTS: Fifty-three patients (32 female) with SNHL had CNC stenosis in 85 ears (32 bilateral, 21 unilateral). The mean (SD) axial CNC measurement for 85 ears was 0.98 (0.57) mm (range, 0-1.75 mm). The mean (SD) Poschl CNC measurement was 1.30 (0.69) mm (range, 0-2.80 mm). Of 85 ears, 64 had at least 1 additional inner ear abnormality. The mean (SD) PTA was 56.2 (40.8) dB. For each ear separately axial and Poschl plane CNC measurements were highly correlated (P < .001). The degree of CNC stenosis was significantly (P = .02) related to degree of hearing loss, and PTA decreased in the CNC stenosis population by 1.4 dB per year (P = .054). In addition, PTA and additional inner ear abnormalities were found to be significantly correlated (P = .002). CONCLUSIONS: Cochlear nerve canal stenosis is associated with SNHL, and the degree of stenosis predicted the degree of SNHL. In addition, the presence of CNC stenosis with additional inner ear abnormalities may affect the severity of SNHL.

17 Article Prognosis tool based on a modified children's implant profile for use in pediatric cochlear implant candidacy evaluation. 2012

O'Brien, Lynne C Graham / Valim, Clarissa / Neault, Marilyn / Kammerer, Betsy / Clark, Terrell / Johnston, Jennifer / Culver, Stacey / Zhou, Jing / Kenna, Margaret A / Licameli, Greg R. ·Dept of Otolaryngology and Communication Enhancement, Children's Hospital Boston, 300 Longwood Ave, LO-367, Boston, MA 02115, USA. ·Ann Otol Rhinol Laryngol · Pubmed #22397214.

ABSTRACT: OBJECTIVES: We developed a prediction tool to assist in evaluation of pediatric candidates for cochlear implantation (CI) and to help plan for preoperative and postoperative support. METHODS: Between 1995 and 2005, 277 patients underwent CI at Children's Hospital Boston. Of these 277 patients, 250 had at least 2 years of post-CI follow-up and adequate pre-CI information for rating by our prediction tool. Of the 250, 106 were randomly selected for inclusion. The patients were divided into group A (auditory/oral communicator); group B (auditory/oral communicator with visual assistance), group C (visual/manual communicator with auditory/oral skills assistance), and group D (will not derive communicative benefit from implant). Predictions were performed with clinical assessment and two statistical techniques: regression modeling and classification and regression tree (CART) analysis. RESULTS: Among patients who became auditory/oral communicators (group A), clinical assessment predicted that outcome accurately 65% of the time, CART analysis had intermediate sensitivity (79%), and regression modeling was the most sensitive (95%). Groups B through D were predicted 45% of the time by regression modeling, 90% of the time by clinical assessment, and 100% of the time by CART analysis. CONCLUSIONS: A combination of speech-language, medical, and educational constructs can provide a reliable prediction of the communication outcome. Our goal for the prognosis tool is to make it part of the overall candidacy process in supporting decision-making about CI and planning for post-CI therapy.

18 Article Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment. 2012

Francey, Lauren J / Conlin, Laura K / Kadesch, Hanna E / Clark, Dinah / Berrodin, Donna / Sun, Yi / Glessner, Joe / Hakonarson, Hakon / Jalas, Chaim / Landau, Chaim / Spinner, Nancy B / Kenna, Margaret / Sagi, Michal / Rehm, Heidi L / Krantz, Ian D. ·The Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA. ·Am J Med Genet A · Pubmed #22147502.

ABSTRACT: Hearing loss is the most prevalent sensory perception deficit in humans, affecting 1/500 newborns, can be syndromic or nonsyndromic and is genetically heterogeneous. Nearly 80% of inherited nonsyndromic bilateral sensorineural hearing loss (NBSNHI) is autosomal recessive. Although many causal genes have been identified, most are minor contributors, except for GJB2, which accounts for nearly 50% of all recessive cases of severe to profound congenital NBSNHI in some populations. More than 60% of children with a NBSNHI do not have an identifiable genetic cause. To identify genetic contributors, we genotyped 659 GJB2 mutation negative pediatric probands with NBSNHI and assayed for copy number variants (CNVs). After identifying 8 mild-moderate NBSNHI probands with a Chr15q15.3 deletion encompassing the Stereocilin (STRC) gene amongst this cohort, sequencing of STRC was undertaken in these probands as well as 50 probands and 14 siblings with mild-moderate NBSNHI and 40 probands with moderately severe-profound NBSNHI who were GJB2 mutation negative. The existence of a STRC pseudogene that is 99.6% homologous to the STRC coding region has made the sequencing interpretation complicated. We identified 7/50 probands in the mild-moderate cohort to have biallelic alterations in STRC, not including the 8 previously identified deletions. We also identified 2/40 probands to have biallelic alterations in the moderately severe-profound NBSNHI cohort, notably no large deletions in combination with another variant were found in this cohort. The data suggest that STRC may be a common contributor to NBSNHI among GJB2 mutation negative probands, especially in those with mild to moderate hearing impairment.

19 Article Clinical experience in diagnosis and management of superior semicircular canal dehiscence in children. 2011

Lee, Gi Soo / Zhou, Guangwei / Poe, Dennis / Kenna, Margaret / Amin, Manali / Ohlms, Laurie / Gopen, Quinton. ·Department of Otolaryngology and Communication Enhancement, Children's Hospital Boston, Boston, Massachusetts, USA. gi.lee@childrens.harvard.edu ·Laryngoscope · Pubmed #21898426.

ABSTRACT: OBJECTIVES/HYPOTHESIS: To identify clinical characteristics of pediatric superior semicircular canal dehiscence (SSCD) and explore suitable options of management. STUDY DESIGN: Retrospective review. METHODS: The study comprised 10 patients with auditory and/or vestibular symptoms suspicious for SSCD. One patient pursued care at another institution, and two did not return for follow-up. Subsequently, seven patients (11 ears, 6 females and 1 male, aged 5-11 years) were included. Patients were evaluated using high-resolution temporal bone computed tomography. Those suspected of having SSCD underwent vestibular evoked myogenic potential testing for confirmation in addition to routine audiologic tests. RESULTS: All seven patients had auditory and/or vestibular impairment. Auditory symptoms included autophony, tinnitus, and conductive or mixed hearing loss. Bone conduction responses were occasionally better than 0 dB HL. Vestibular dysfunction included vertigo, often in response to loud noises, and chronic disequilibrium. One patient underwent surgical repair for disabling vestibular symptoms with dramatic improvement in both auditory and vestibular symptoms postoperatively. The remaining six were closely monitored with routine exams. CONCLUSIONS: In contrast to adults, children with SSCD usually present with auditory symptoms first, although they share some similarities with adults in clinical manifestations of SSCD. Our study shows that SSCD syndrome, a well-accepted clinical entity, exists in the pediatric population. Conservative management is preferred for children with SSCD; nevertheless, surgical intervention is necessary for those with disabling vestibular symptoms. To date, this is the first clinical case series of symptomatic pediatric patients with SSCD.

20 Article Retinal disease course in Usher syndrome 1B due to MYO7A mutations. 2011

Jacobson, Samuel G / Cideciyan, Artur V / Gibbs, Dan / Sumaroka, Alexander / Roman, Alejandro J / Aleman, Tomas S / Schwartz, Sharon B / Olivares, Melani B / Russell, Robert C / Steinberg, Janet D / Kenna, Margaret A / Kimberling, William J / Rehm, Heidi L / Williams, David S. ·Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, USA. jacobsos@mail.med.upenn.edu ·Invest Ophthalmol Vis Sci · Pubmed #21873662.

ABSTRACT: PURPOSE. To determine the disease course in Usher syndrome type IB (USH1B) caused by myosin 7A (MYO7A) gene mutations. METHODS. USH1B patients (n = 33, ages 2-61) representing 25 different families were studied by ocular examination, kinetic and chromatic static perimetry, dark adaptometry, and optical coherence tomography (OCT). Consequences of the mutant alleles were predicted. RESULTS. All MYO7A patients had severely abnormal ERGs, but kinetic fields revealed regional patterns of visual loss that suggested a disease sequence. Rod-mediated vision could be lost to different degrees in the first decades of life. Cone vision followed a more predictable and slower decline. Central vision ranged from normal to reduced in the first four decades of life and thereafter was severely abnormal. Dark adaptation kinetics was normal. Photoreceptor layer thickness in a wide region of central retina could differ dramatically between patients of comparable ages; and there were examples of severe losses in childhood as well as relative preservation in patients in the third decade of life. Comparisons were made between the mutant alleles in mild versus more severe phenotypes. CONCLUSIONS. A disease sequence in USH1B leads from generally full but impaired visual fields to residual small central islands. At most disease stages, there was preserved temporal peripheral field, a potential target for early phase clinical trials of gene therapy. From data comparing patients' rod disease in this cohort, the authors speculate that null MYO7A alleles could be associated with milder dysfunction and fewer photoreceptor structural losses at ages when other genotypes show more severe phenotypes.

21 Article Temporal bone abnormalities in children with GJB2 mutations. 2011

Kenna, Margaret A / Rehm, Heidi L / Frangulov, Anna / Feldman, Henry A / Robson, Caroline D. ·Department of Otolaryngology and Communication Enhancement, Children's Hospital Boston, Boston, Massachusetts, USA. margaret.kenna@childrens.harvard.edu ·Laryngoscope · Pubmed #21298644.

ABSTRACT: OBJECTIVES: To determine the incidence of temporal bone abnormalities in children with sensorineural hearing loss (SNHL) and pathogenic biallelic GJB2 mutations. STUDY DESIGN: Retrospective analysis of a large cohort of pediatric patients with biallelic GJB2 mutations and SNHL (observational case series). METHODS: Blinded review of all available temporal bone computed tomographic (CT) and magnetic resonance imaging (MRI) studies in this cohort. RESULTS: Out of 158 patients with biallelic GJB2 mutations, 113 had CT and/or MRI studies available for review. Definite, although generally subtle, inner ear abnormalities were present in 12/113. There were malformations of the semicircular canals (SCC) in 4/12, of the internal auditory canal in 2/12, of the cochlear nerve canal (CNC) in 6, and unilateral cochlear malformation in 1/12. MRI in 1/5 showed mildly hypoplastic cochlear nerve. There was no correlation between SNHL severity and presence/absence/type of malformations or genotype. CONCLUSIONS: Our study of 113 biallelic GJB2 patients with SNHL and temporal bone imaging is the largest study to date. We found only 10% had any abnormalities, most subtle, and none had EVA. Additionally, there was no correlation between SNHL severity and presence/absence/type of malformations or genotype. Disparities between our group and previous reports may be due to differences in degree of hearing loss, types of mutations, populations studied, and radiologic factors for both image acquisition and interpretation.

22 Article Not a "sound" decision: is cochlear implantation always the best choice? 2010

O'Brien, Lynne C Graham / Kenna, Margaret / Neault, Marilyn / Clark, Terrell A / Kammerer, Betsy / Johnston, Jennifer / Waldman, Erik / Thomas, Sarah Pierce / Forbes, Peter / Licameli, Greg R. ·Department of Otolaryngology and Communication Enhancement, Children's Hospital Boston, United States. ·Int J Pediatr Otorhinolaryngol · Pubmed #20692711.

ABSTRACT: OBJECTIVE: To review the candidacy criteria used to counsel parents of profoundly deaf children, to determine if these criteria have changed over time, and to evaluate eventual communication outcomes for these patients. DESIGN: Retrospective review of 483 pediatric cochlear implant candidates from September 1995 to December 2006 seen at a tertiary care pediatric hospital. RESULTS: Out of 483 implant candidates, 191 patients were initially felt not to be favorable candidates based on CI team evaluation. Of this group, 3 had insufficient records to review and were excluded. The remaining 188 patients underwent a detailed analysis of specific possible contraindications to implantation. This included audiologic, medical and psychosocial parameters. The data was divided into two time periods: Group 1 included 44 patients from 1995 to 2000, and Group 2 included 144 patients from 2001 to 2006. In Group 1, there was a higher percentage of children with language deprivation and developmental concerns and patients not ready, compared to Group 2 which had a higher percentage of families not ready and inadequate support systems. Group 1 had a higher percentage of patients who ultimately underwent cochlear implant, but otherwise the two groups were largely similar. CONCLUSION: Analysis of our data showed that the degree of concern that the cochlear implant team has in relationship to specific candidacy criteria has changed over time. Recommendations against a cochlear implant were often revisited after initial concerns were addressed. The use of a team approach, in conjunction with a validation tool, is important for establishing criteria for successful cochlear implantation in children to support appropriate counseling of patients and families and to plan post-implant management.

23 Article High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays. 2010

Kothiyal, Prachi / Cox, Stephanie / Ebert, Jonathan / Husami, Ammar / Kenna, Margaret A / Greinwald, John H / Aronow, Bruce J / Rehm, Heidi L. ·1Biomedical Informatics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA. ·BMC Biotechnol · Pubmed #20146813.

ABSTRACT: BACKGROUND: Despite current knowledge of mutations in 45 genes that can cause nonsyndromic sensorineural hearing loss (SNHL), no unified clinical test has been developed that can comprehensively detect mutations in multiple genes. We therefore designed Affymetrix resequencing microarrays capable of resequencing 13 genes mutated in SNHL (GJB2, GJB6, CDH23, KCNE1, KCNQ1, MYO7A, OTOF, PDS, MYO6, SLC26A5, TMIE, TMPRSS3, USH1C). We present results from hearing loss arrays developed in two different research facilities and highlight some of the approaches we adopted to enhance the applicability of resequencing arrays in a clinical setting. RESULTS: We leveraged sequence and intensity pattern features responsible for diminished coverage and accuracy and developed a novel algorithm, sPROFILER, which resolved >80% of no-calls from GSEQ and allowed 99.6% (range: 99.2-99.8%) of sequence to be called, while maintaining overall accuracy at >99.8% based upon dideoxy sequencing comparison. CONCLUSIONS: Together, these findings provide insight into critical issues for disease-centered resequencing protocols suitable for clinical application and support the use of array-based resequencing technology as a valuable molecular diagnostic tool for pediatric SNHL and other genetic diseases with substantial genetic heterogeneity.

24 Article Audiologic phenotype and progression in GJB2 (Connexin 26) hearing loss. 2010

Kenna, Margaret A / Feldman, Henry A / Neault, Marilyn W / Frangulov, Anna / Wu, Bai-Lin / Fligor, Brian / Rehm, Heidi L. ·Department of Otolaryngology and Communication Enhancement, Children's Hospital Boston, 300 Longwood Ave, LO-367, Boston, MA 02115, USA. margaret.kenna@childrens.harvard.edu ·Arch Otolaryngol Head Neck Surg · Pubmed #20083784.

ABSTRACT: OBJECTIVES: To document the audiologic phenotype of children with biallelic GJB2 (connexin 26) mutations, and to correlate it with the genotype. DESIGN: Prospective, observational study. SETTING: Tertiary care children's hospital. PATIENTS: Infants and children with sensorineural hearing loss (SNHL). INTERVENTION: Sequencing of the GJB2 (connexin 26) gene. MAIN OUTCOME MEASURES: Degree and progression of SNHL. RESULTS: From December 1, 1998, through November 30, 2006, 126 children with biallelic GJB2 mutations were identified. Of the 30 different mutations identified, 13 (43%) were truncating and 17 (57%) were nontruncating; 62 patients had 2 truncating, 30 had 1 truncating and 1 nontruncating, and 17 had 2 nontruncating mutations. Eighty-four patients (67%) initially had measurable hearing in the mild to severe range in at least 1 of 4 frequencies (500, 1000, 2000, or 4000 Hz). Of these 84 patients with residual hearing, 47 (56%) had some degree of progressive hearing loss. Patients with 2 truncating mutations had significantly worse hearing compared with all other groups. Patients who had 1 or 2 copies of either an M34T or a V37I allele had the mildest hearing loss. CONCLUSIONS: Hearing loss owing to GJB2 mutations ranges from mild to profound and is usually congenital. More than 50% of patients will experience some hearing loss progression, generally gradually but occasionally precipitously. Hearing loss severity may be influenced by genetic factors, such as the degree of preserved protein function in nontruncating mutations, whereas hearing loss progression may be dependent on factors other than the connexin 26 protein. Genetic counseling for patients with GJB2 mutations should include the variable audiologic phenotype and the possibility of progression.

25 Unspecified The Child with Hearing Loss. 2015

Kesser, Bradley W / Kenna, Margaret A. ·Department of Otolaryngology-Head and Neck Surgery, University of Virginia School of Medicine, Box 800713, Charlottesville, VA 22908-0713, USA. Electronic address: Bwk2n@virginia.edu. · Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, 300 Longwood Avenue, BCH 3129, Boston, MA 02115, USA. Electronic address: margaret.kenna@childrens.harvard.edu. ·Otolaryngol Clin North Am · Pubmed #26452422.

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