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Hearing Disorders: HELP
Articles from Copenhagen University Hospital
Based on 107 articles published since 2009

These are the 107 published articles about Hearing Disorders that originated from Copenhagen University Hospital during 2009-2019.
+ Citations + Abstracts
Pages: 1 · 2 · 3 · 4 · 5
1 Editorial Individual Hearing Loss: Characterization, Modelling, Compensation Strategies. 2016

Santurette, Sébastien / Dau, Torsten / Christensen-Dalsgaard, Jakob / Tranebjærg, Lisbeth / Andersen, Ture / Poulsen, Torben. ·Hearing Systems, Department of Electrical Engineering, Technical University of Denmark, Kgs. Lyngby, Denmark Department of Otorhinolaryngology, Head and Neck Surgery & Audiology, Rigshospitalet, Copenhagen, Denmark ses@elektro.dtu.dk. · Hearing Systems, Department of Electrical Engineering, Technical University of Denmark, Kgs. Lyngby, Denmark. · Department of Biology, University of Southern Denmark, Odense, Denmark. · Department of Otorhinolaryngology, Head and Neck Surgery & Audiology, Rigshospitalet, Copenhagen, Denmark Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark. · Department of Biology, University of Southern Denmark, Odense, Denmark Department of Clinical Research, Otorhinolaryngology, University of Southern Denmark, Odense, Denmark. ·Trends Hear · Pubmed #27566802.

ABSTRACT: It is well-established that hearing loss does not only lead to a reduction of hearing sensitivity. Large individual differences are typically observed among listeners with hearing impairment in a wide range of suprathreshold auditory measures. In many cases, audiometric thresholds cannot fully account for such individual differences, which make it challenging to find adequate compensation strategies in hearing devices. How to characterize, model, and compensate for individual hearing loss were the main topics of the fifth International Symposium on Auditory and Audiological Research (ISAAR), held in Nyborg, Denmark, in August 2015. The following collection of papers results from some of the work that was presented and discussed at the symposium.

2 Review Comorbidities in vitiligo: comprehensive review. 2018

Dahir, Aisha M / Thomsen, Simon F. ·Department of Dermatology, Bispebjerg Hospital, Copenhagen, Denmark. · Department of Biomedical Sciences, University of Copenhagen, Copenhagen, Denmark. ·Int J Dermatol · Pubmed #29808541.

ABSTRACT: Vitiligo is a common skin disorder characterized by idiopathic, progressive cutaneous hypomelanosis. Vitiligo is associated with several comorbid autoimmune, systemic, and dermatological diseases, primarily thyroid disease, alopecia areata, diabetes mellitus, pernicious anemia, systemic lupus erythematosus, rheumatoid arthritis, Addison's disease, inflammatory bowel disease, Sjögren's syndrome, dermatomyositis, scleroderma, ocular and audiological abnormalities, psoriasis, and atopic dermatitis. It is essential to increase awareness of these comorbidities in order to improve the disease burden and quality of life of patients with vitiligo. Herein, we review the association with the most frequent comorbidities associated with vitiligo.

3 Review Panel 1: Epidemiology and Diagnosis. 2017

Homøe, Preben / Kværner, Kari / Casey, Janet R / Damoiseaux, Roger A M J / van Dongen, Thijs M A / Gunasekera, Hasantha / Jensen, Ramon G / Kvestad, Ellen / Morris, Peter S / Weinreich, Heather M. ·1 Department of Otorhinolaryngology and Maxillofacial Surgery, Zealand University Hospital, University of Copenhagen, Køge, Denmark. · 2 Centre for Connected Care, Oslo University Hospital, Oslo, Norway. · 3 BI Norwegian Business School, Oslo, Norway. · 4 Legacy Pediatrics, Rochester, New York, USA. · 5 Julius Centre for Health Sciences and Primary Care, University Medical Centre, Utrecht, The Netherlands. · 6 Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia. · 7 ENT Department, Oslo University Hospital and Division of Mental Health, Norwegian Institute of Public Health, Oslo, Norway. · 8 Department of Paediatrics, Royal Darwin Hospital and Menzies School of Health Research, Darwin, Australia. · 9 Department of Otolaryngology-Head and Neck Surgery, Johns Hopkins University, Baltimore, Maryland, USA. ·Otolaryngol Head Neck Surg · Pubmed #28372531.

ABSTRACT: Objective To create a literature review between 2011 and June 1, 2015, on advances in otitis media (OM) epidemiology and diagnosis (including relevant audiology studies). Data Sources Electronic search engines (PubMed, EMBASE, and Cochrane Library) with a predefined search strategy. Review Methods Articles with appropriate epidemiologic methodology for OM, including acute mastoiditis and eustachian tube dysfunction. Items included OM worldwide and in high-risk populations, OM-related hearing loss, news in OM diagnostics, prenatal risk factors and comorbidities, postnatal risk factors, genetics, microbiological epidemiology, guidelines, and quality of life. Conclusions Diagnostic evidence and genetic studies are increasing; guidelines are introduced worldwide; and there is evidence of benefit of pneumococcal conjugate vaccines. New risk factors and comordities are identified in the study period, and quality of life is affected in children and their families. Implications for Practice Chronic suppurative OM occurs worldwide and contributes to lifelong hearing loss. Uniform definitions are still lacking and should be provided. An association between HIV and chronic suppurative OM has been found. Tympanometry is recommended for diagnosis, with or without pneumatic otoscopy. Video otoscopy, algorithms, and validated questionnaires may assist clinicians. Childhood obesity is associated with OM. Heritability accounts for 20% to 50% of OM diagnoses. OM-prone children seem to produce weaker immunologic responses to pneumococcal conjugate vaccines. Clinicians tend to individualize treatment without adhering to guidelines.

4 Review Sensory loss and its consequences for couples' psychosocial and relational wellbeing: an integrative review. 2017

Lehane, Christine M / Dammeyer, Jesper / Elsass, Peter. ·a Department of Psychology , University of Copenhagen , Copenhagen , Denmark. ·Aging Ment Health · Pubmed #26739709.

ABSTRACT: OBJECTIVES: Previous research has shown that marital communication is key to couples' successful illness adjustment. However, little is known about couples' experiences of health conditions characterised by communication difficulties such as acquired hearing, vision, and dual-sensory loss. The aim of this review was to identify the effect of sensory loss, and associated communication difficulties, on couples' relational and psychosocial adjustment. METHOD: A systematic search was conducted to identify studies investigating the social, psychological, and relational impact of sensory loss on couples. RESULTS: Twenty-four articles met the criteria for inclusion in the review. Significant heterogeneity in the measurements and design of the quantitative studies prevented statistical data synthesis. All but two studies reported some effect of sensory loss on couples' psychosocial or relational wellbeing. Higher levels of marital satisfaction were found to buffer against adverse psychological outcomes. Results of quantitative and qualitative studies were synthesised to form an integrative model illustrating the associations between sensory loss and couples' relational and psychosocial wellbeing. CONCLUSIONS: Although this review reports an association between sensory loss and couples' relational and psychosocial wellbeing, the results should be viewed with caution given that relatively few studies on couples' experiences of acquired sensory loss exist, and many have methodological limitations.

5 Review Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. 2016

Huang, Lijia / Vanstone, Megan R / Hartley, Taila / Osmond, Matthew / Barrowman, Nick / Allanson, Judith / Baker, Laura / Dabir, Tabib A / Dipple, Katrina M / Dobyns, William B / Estrella, Jane / Faghfoury, Hanna / Favaro, Francine P / Goel, Himanshu / Gregersen, Pernille A / Gripp, Karen W / Grix, Art / Guion-Almeida, Maria-Leine / Harr, Margaret H / Hudson, Cindy / Hunter, Alasdair G W / Johnson, John / Joss, Shelagh K / Kimball, Amy / Kini, Usha / Kline, Antonie D / Lauzon, Julie / Lildballe, Dorte L / López-González, Vanesa / Martinezmoles, Johanna / Meldrum, Cliff / Mirzaa, Ghayda M / Morel, Chantal F / Morton, Jenny E V / Pyle, Louise C / Quintero-Rivera, Fabiola / Richer, Julie / Scheuerle, Angela E / Schönewolf-Greulich, Bitten / Shears, Deborah J / Silver, Josh / Smith, Amanda C / Temple, I Karen / Anonymous80847 / van de Kamp, Jiddeke M / van Dijk, Fleur S / Vandersteen, Anthony M / White, Sue M / Zackai, Elaine H / Zou, Ruobing / Anonymous90847 / Bulman, Dennis E / Boycott, Kym M / Lines, Matthew A. ·The Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada. · Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada. · Department of Genetics, The Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada. · Division of Medical Genetics, A. I. duPont Hospital for Children, Wilmington, Delaware. · Clinical Genetics Department, Belfast City Hospital, Belfast, UK. · Department of Pediatrics and Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California. · Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington. · Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington. · Department of Medical Genetics, Westmead Hospital, Sydney, Australia. · The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada. · Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, Brazil. · Hunter Genetics, Newcastle, Waratah, Australia. · University of Newcastle, Newcastle - School of Medicine and Public Health, Faculty of Health, Callaghan, Australia. · Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark. · Department of Genetics, Permanente Medical Group, Roseville, California. · Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania. · The Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania. · Shodair Children's Hospital, Helena, Montana. · Medical Geneticist, Ottawa, Ontario, Canada. · Clinical Genetics and Metabolism, Floating Hospital for Children, Tufts Medical Center, Boston, Massachusetts. · West of Scotland Clinical Genetics Service, South Glasgow University Hospital, Glasgow, UK. · Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, Maryland. · Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, UK. · Department of Medical Genetics, Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada. · Sección de Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, Murcia, Spain. · Grupo Clínico Vinculado al Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain. · Department of Genetics, Sacramento Medical Center, Sacramento, California. · NSW Health Pathology, Newcastle, Australia. · West Midlands Regional Genetics Service, Birmingham Women's Hospital, Birmingham, UK. · Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania. · Department of Pathology and Laboratory Medicine, UCLA Clinical Genomics Center, David Geffen School of Medicine, University of California, Los Angeles, California. · Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas. · Genetic Counselling Clinic Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark. · Oxford Regional Genetics Service, The Churchill Hospital, Oxford University Hospitals NHS Trust, Oxford, UK. · Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK. · Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Foundation Trust, Southampton, UK. · Department of Clinical Genetics, VU Medical Center, Amsterdam, The Netherlands. · Maritime Medical Genetics Service, IWKHealth Centre, Halifax, Nova Scotia, Canada. · Victoria Clinical Genetics Service, Murdoch Children's Research Institute, Melbourne, Australia. · Department of Paediatrics, University of Melbourne, Melbourne, Australia. · Newborn Screening Ontario, The Children's Hospital of Eastern Ontario, Ottawa, Canada. · Metabolics and Newborn Screening, Department of Pediatrics, The Children's Hospital of Eastern Ontario, Ottawa, Canada. ·Hum Mutat · Pubmed #26507355.

ABSTRACT: Mandibulofacial dysostosis with microcephaly (MFDM) is a multiple malformation syndrome comprising microcephaly, craniofacial anomalies, hearing loss, dysmorphic features, and, in some cases, esophageal atresia. Haploinsufficiency of a spliceosomal GTPase, U5-116 kDa/EFTUD2, is responsible. Here, we review the molecular basis of MFDM in the 69 individuals described to date, and report mutations in 38 new individuals, bringing the total number of reported individuals to 107 individuals from 94 kindreds. Pathogenic EFTUD2 variants comprise 76 distinct mutations and seven microdeletions. Among point mutations, missense substitutions are infrequent (14 out of 76; 18%) relative to stop-gain (29 out of 76; 38%), and splicing (33 out of 76; 43%) mutations. Where known, mutation origin was de novo in 48 out of 64 individuals (75%), dominantly inherited in 12 out of 64 (19%), and due to proven germline mosaicism in four out of 64 (6%). Highly penetrant clinical features include, microcephaly, first and second arch craniofacial malformations, and hearing loss; esophageal atresia is present in an estimated ∼27%. Microcephaly is virtually universal in childhood, with some adults exhibiting late "catch-up" growth and normocephaly at maturity. Occasionally reported anomalies, include vestibular and ossicular malformations, reduced mouth opening, atrophy of cerebral white matter, structural brain malformations, and epibulbar dermoid. All reported EFTUD2 mutations can be found in the EFTUD2 mutation database (http://databases.lovd.nl/shared/genes/EFTUD2).

6 Review [The bone-anchored hearing aid]. 2014

Foghsgaard, Søren. ·Øre-næse-hals-kirurgisk Afdeling, Rigshospitalet, Blegdamsvej 9, 2100 København Ø. E-mail: Foghsgaard@dadlnet.dk. ·Ugeskr Laeger · Pubmed #25293411.

ABSTRACT: The bone-anchored hearing aid (Baha) was introduced in 1977 by Tjellström and colleagues and has now been used clinically for over 30 years. Generally, the outcomes are good, and several studies have shown improved audiological- and quality of life outcomes. The principle of the Baha is, that sound vibrations are led directly to the inner ear via the mastoid bone, bypassing the middle ear. This is achieved via an osseointegrated implant and a skin-penetrating abutment. Studies report high success rates and a majority of complications as typically minor in nature.

7 Review Deafblindness: a review of the literature. 2014

Dammeyer, Jesper. ·Department of Psychology, University of Copenhagen, Denmark jesper.dammeyer@psy.ku.dk. ·Scand J Public Health · Pubmed #25114064.

ABSTRACT: BACKGROUND: Deafblindness or dual sensory loss is a rare condition among young people, but more frequent among older people. Deafblindness is a heterogeneous condition that varies with regard to time of onset and degree of vision and hearing impairment, as well as communication mode, medical aetiology, and number and severity of co-morbidity. METHOD: We conducted a comprehensive review of public health issues related to deafblindness. RESULTS: Deafblindness often lead to barriers in language and communication, access to information and social interaction, which can lead to a number of health-related difficulties. Some of the reported consequences are a higher risk of depression, cognitive decline, developmental disorder in children and psychological distress. CONCLUSIONS: Deafblindness is associated with a number of health-related issues and more knowledge is needed about the impact of dual sensory loss to be able to offer the best support.

8 Review Definitions of deafblindness and congenital deafblindness. 2014

Ask Larsen, Flemming / Damen, Saskia. ·Department of Psychology, University of Copenhagen, Øster Farimagsgade 2A, 1353 Copenhagen K, Denmark. Electronic address: flemming.ask.larsen@psy.ku.dk. · Bartiméus, Oude Arnhemsebovenweg 3, 3941 XM Doorn, The Netherlands; Department of Special Needs Education and Youth Care, University of Groningen, Grote Rozenstraat 38, 9712 TJ Groningen, The Netherlands. Electronic address: s.damen@rug.nl. ·Res Dev Disabil · Pubmed #25016162.

ABSTRACT: In order to compile knowledge on deafblindness (DB) and congenital deafblindness (CDB), one important factor is comparison of results between different scientific studies. In an attempt to do a systematic review of the literature on cognitive assessment and CDB, considerable difficulties in determining eligibility of the studies were encountered due to heterogeneity in definitions and inclusion criteria used in the articles. The present systematic review aims to provide both an overview of this terminological and methodological heterogeneity and suggestions for better future research practices. A systematic review of definitions used in (N=30) studies employing psychological assessment of people with CDB served as a sample of the scientific literature on DB and CDB. Absent or heterogeneous definitions and inclusion criteria regarding both DB and CDB are evident in the sample. Fifty percent of the studies reported no definition of DB and 76.7% reported no definition of CDB. Main discrepancies are: (1) medical/functional versus ability/functioning definitions regarding DB; and (2) different criteria for onset of DB in the case of defining CDB (e.g. age versus developmental level). The results of this study call attention to a scientifically inadequate approach to the study of DB and CDB. Findings indicate that clear guidelines for sample descriptions of the DB and/or CDB populations are needed. It is suggested that studies including DB and CDB participants provide the following information: definitions of DB and CDB used; severity of sensory impairments; level of sensory ability in relation to mobility, access to information, and communication; age at onset of DB; and communication as well as language ability at onset of DB.

9 Review Does the acceptable noise level (ANL) predict hearing-aid use? 2014

Olsen, Steen Østergaard / Brännström, K Jonas. ·* Research Laboratory, Department of Otorhinolaryngology, Head and Neck Surgery, Copenhagen University Hospital , Rigshospitalet , Denmark. ·Int J Audiol · Pubmed #24219089.

ABSTRACT: OBJECTIVE: It has been suggested that individuals have an inherent acceptance of noise in the presence of speech, and that different acceptance of noise results in different hearing-aid (HA) use. The acceptable noise level (ANL) has been proposed for measurement of this property. It has been claimed that the ANL magnitude can predict hearing-aid use patterns. Many papers have been published reporting on different aspects of ANL, but none have challenged the predictive power of ANL. The purpose of this study was to discuss whether ANL can predict HA use and how more reliable ANL results can be obtained. DESIGN: Relevant literature regarding the ANL was found on Medline, Embase, and Google Scholar. Additional information was found as references in the included papers and through personal contacts, for instance when attending audiology conferences. STUDY SAMPLE: Forty-five papers published in peer reviewed journals as well as a number of papers from trade journals, posters and oral presentations from audiology conventions. CONCLUSIONS: An inherent acceptance of noise in the presence of speech may exist, but no method for precise measurement of ANL is available. The ANL model for prediction of HA use has yet to be proven valid.

10 Review Bleomycin treatment of brain tumors: an evaluation. 2009

Linnert, Mette / Gehl, Julie. ·Department of Oncology, Copenhagen University Hospital Herlev, Herlev, Denmark. ·Anticancer Drugs · Pubmed #19396014.

ABSTRACT: Bleomycin has been used in the treatment of brain tumors for over 30 years. Currently, we are evaluating electrochemotherapy (the use of electric pulses to enhance uptake of bleomycin) for patients with secondary brain tumors. We, therefore, reviewed the literature with specific reference to the tolerability and toxicity of bleomycin. Using the keywords 'brain' and 'bleomycin', a database search without date restriction was performed and over 500 articles were found. Twenty-five articles were used for this study based on relevance determined by: (i) clinical studies, (ii) use of bleomycin, and (iii) direct injection into brain tissue or cysts. There were two main indications for the use of bleomycin directly into the brain: (i) cystic tumors in the form of craniopharyngiomas and (ii) solid brain tumors such as glioblastomas and astrocytomas. The most frequent adverse effects reported were transient fever, headaches, nausea and vomiting, lethargy, and peritumoral edema. Out of 189 patients treated from 1973 to 2007, only five patients (3%) had severe and six patients (3%) had moderate adverse effects. One death was directly related to this treatment, where very high doses were used. Two patients developed loss of vision and two patients had hearing loss because of the treatment. All cases with severe and moderate adverse effects except one were patients with craniopharyngiomas and probably because of tumor localization in the deep brain. In conclusion, bleomycin injection into the brain has been fairly well tolerated at doses much higher than that used in electrochemotherapy.

11 Clinical Trial Hearing Status in Survivors of Childhood Acute Myeloid Leukemia Treated With Chemotherapy Only: A NOPHO-AML Study. 2019

Skou, Anne-Sofie / Olsen, Steen Ø / Nielsen, Lars H / Glosli, Heidi / Jahnukainen, Kirsi / Jarfelt, Marianne / Jónmundsson, Guðmundur K / Malmros, Johan / Nysom, Karsten / Hasle, Henrik / Anonymous35341188. ·Department of Pediatrics, Aarhus University Hospital Skejby, Aarhus. · Departments of Otorhinolaryngology, Head and Neck Surgery, and Audiology. · Department of Pediatric and Adolescent Medicine, Oslo University Hospital, Rikshospitalet, Oslo, Norway. · Children's Hospital, Helsinki University Central Hospital, Helsinki, Finland. · Department of Pediatric Oncology, The Queen Silvia Children's Hospital, Gothenburg. · Department of Pediatrics, Landspitalinn University Hospital, Reykjavik, Iceland. · Department of Pediatric Oncology, Karolinska University Hospital. · Department of Women´s and Children's Health, Karolinska Institutet, Stockholm, Sweden. · Pediatrics and Adolescent Medicine, University Hospital Rigshospitalet, Copenhagen, Denmark. ·J Pediatr Hematol Oncol · Pubmed #30550508.

ABSTRACT: BACKGROUND: As more children survive acute myeloid leukemia (AML) it is increasingly important to assess possible late effects of the intensive treatment. Hearing loss has only sporadically been reported in survivors of childhood AML. We assessed hearing status in survivors of childhood AML treated with chemotherapy alone according to 3 consecutive NOPHO-AML trials. PROCEDURE: A population-based cohort of children treated according to the NOPHO-AML-84, NOPHO-AML-88, and NOPHO-AML-93 trials included 137 eligible survivors among whom 101 (74%) completed a questionnaire and 99 (72%) had otologic and audiologic examination performed including otoscopy (72%), pure tone audiometry (70%), and tympanometry (60%). Eighty-four of 93 (90%) eligible sibling controls completed a similar questionnaire. RESULTS: At a median of 11 years (range, 4 to 25) after diagnosis, hearing disorders were rare in survivors of childhood AML and in sibling controls, with no significant differences. None had severe or profound hearing loss diagnosed at audiometry. Audiometry detected a subclinical hearing loss ranging from slight to moderate in 19% of the survivors, 5% had low-frequency hearing loss, and 17% had high-frequency hearing loss. CONCLUSIONS: The frequency of hearing disorders was low, and hearing thresholds in survivors of childhood AML were similar to background populations of comparable age.

12 Clinical Trial Sodium Thiosulfate for Protection from Cisplatin-Induced Hearing Loss. 2018

Brock, Penelope R / Maibach, Rudolf / Childs, Margaret / Rajput, Kaukab / Roebuck, Derek / Sullivan, Michael J / Laithier, Véronique / Ronghe, Milind / Dall'Igna, Patrizia / Hiyama, Eiso / Brichard, Bénédicte / Skeen, Jane / Mateos, M Elena / Capra, Michael / Rangaswami, Arun A / Ansari, Marc / Rechnitzer, Catherine / Veal, Gareth J / Covezzoli, Anna / Brugières, Laurence / Perilongo, Giorgio / Czauderna, Piotr / Morland, Bruce / Neuwelt, Edward A. ·From Great Ormond Street Hospital, London (P.R.B., K.R., D.R.), Nottingham Clinical Trials Unit, Nottingham (M. Childs), Royal Hospital for Sick Children, Glasgow (M.R.), Northern Institute for Cancer Research, Newcastle University, Newcastle upon Tyne (G.J.V.), and University of Birmingham, Birmingham (B.M.) - all in the United Kingdom · International Breast Cancer Study Group, Bern (R.M.), and Hôpital Universitaire de Genève, Geneva (M.A.) - both in Switzerland · University of Melbourne, Melbourne, VIC, Australia (M.J.S.) · University of Otago, Christchurch (M.J.S.), and Starship Children's Hospital, Auckland (J.S.) - both in New Zealand · Centre Hospitalier Universitaire, Besançon (V.L.), and Institut de Cancerologie Gustave Roussy, Villejuif (L.B.) - both in France · University of Padua, Padua (P.D., G.P.), and Consorzio Interuniversitario (CINECA), Bologna (A.C.) - both in Italy · Hiroshima University, Hiroshima, Japan (E.H.) · Cliniques Universitaires Saint Luc, Brussels (B.B.) · University Hospital Reina Sofia, Cordoba, Spain (M.E.M.) · Our Lady's Children's Hospital, Dublin (M. Capra) · Stanford University Medical Center, Palo Alto, CA (A.A.R.) · University Hospital Rigshospitalet, Copenhagen (C.R.) · Medical University of Gdansk, Gdansk, Poland (P.C.) · and Oregon Health and Science University, Portland (E.A.N.). ·N Engl J Med · Pubmed #29924955.

ABSTRACT: BACKGROUND: Cisplatin chemotherapy and surgery are effective treatments for children with standard-risk hepatoblastoma but may cause considerable and irreversible hearing loss. This trial compared cisplatin with cisplatin plus delayed administration of sodium thiosulfate, aiming to reduce the incidence and severity of cisplatin-related ototoxic effects without jeopardizing overall and event-free survival. METHODS: We randomly assigned children older than 1 month and younger than 18 years of age who had standard-risk hepatoblastoma (≤3 involved liver sectors, no metastatic disease, and an alpha-fetoprotein level of >100 ng per milliliter) to receive cisplatin alone (at a dose of 80 mg per square meter of body-surface area, administered over a period of 6 hours) or cisplatin plus sodium thiosulfate (at a dose of 20 g per square meter, administered intravenously over a 15-minute period, 6 hours after the discontinuation of cisplatin) for four preoperative and two postoperative courses. The primary end point was the absolute hearing threshold, as measured by pure-tone audiometry, at a minimum age of 3.5 years. Hearing loss was assessed according to the Brock grade (on a scale from 0 to 4, with higher grades indicating greater hearing loss). The main secondary end points were overall survival and event-free survival at 3 years. RESULTS: A total of 109 children were randomly assigned to receive cisplatin plus sodium thiosulfate (57 children) or cisplatin alone (52) and could be evaluated. Sodium thiosulfate was associated with few high-grade toxic effects. The absolute hearing threshold was assessed in 101 children. Hearing loss of grade 1 or higher occurred in 18 of 55 children (33%) in the cisplatin-sodium thiosulfate group, as compared with 29 of 46 (63%) in the cisplatin-alone group, indicating a 48% lower incidence of hearing loss in the cisplatin-sodium thiosulfate group (relative risk, 0.52; 95% confidence interval [CI], 0.33 to 0.81; P=0.002). At a median of 52 months of follow-up, the 3-year rates of event-free survival were 82% (95% CI, 69 to 90) in the cisplatin-sodium thiosulfate group and 79% (95% CI, 65 to 88) in the cisplatin-alone group, and the 3-year rates of overall survival were 98% (95% CI, 88 to 100) and 92% (95% CI, 81 to 97), respectively. CONCLUSIONS: The addition of sodium thiosulfate, administered 6 hours after cisplatin chemotherapy, resulted in a lower incidence of cisplatin-induced hearing loss among children with standard-risk hepatoblastoma, without jeopardizing overall or event-free survival. (Funded by Cancer Research UK and others; SIOPEL 6 ClinicalTrials.gov number, NCT00652132 ; EudraCT number, 2007-002402-21 .).

13 Clinical Trial A multicenter study on objective and subjective benefits with a transcutaneous bone-anchored hearing aid device: first Nordic results. 2017

Hougaard, Dan Dupont / Boldsen, Soren Kjaergaard / Jensen, Anne Marie / Hansen, Soren / Thomassen, Per Cayé. ·Department of Otolaryngology, Head and Neck Surgery and Audiology, Aalborg University Hospital, Hobrovej 18-22, 9000, Aalborg, Denmark. d.hougaard@rn.dk. · Unit of Clinical Biostatistics and Bioinformatics, Aalborg University Hospital, Aalborg, Denmark. · Department of Audiology, Copenhagen University Hospital, Rigshospitalet, Denmark. · Department of Otolaryngology, Head and Neck Surgery, Copenhagen University Hospital, Rigshospitalet, Denmark. ·Eur Arch Otorhinolaryngol · Pubmed #28534117.

ABSTRACT: Examination of objective as well as subjective outcomes with a new transcutaneous bone-anchored hearing aid device. The study was designed as a prospective multicenter consecutive case-series study involving tertiary referral centers at two Danish University Hospitals. A total of 23 patients were implanted. Three were lost to follow-up. Patients had single-sided deafness, conductive or mixed hearing loss. INTERVENTION: Rehabilitative. Aided and unaided sound field hearing was evaluated objectively using (1) pure warble tone thresholds, (2) pure-tone average (PTA4), (3) speech discrimination score (SDS) in quiet, and (4) speech reception threshold 50% at 70 dB SPL noise level (SRT50%). Subjective benefit was evaluated by three validated questionnaires: (1) the IOI-HA, (2) the SSQ-12, and (3) a questionnaire evaluating both the frequency and the duration of hearing aid usage. The mean aided PTA4 was lowered by 14.7 dB. SDS was increased by 37.5% at 50 dB SPL, SRT50% in noise improved 1.4 dB. Aided thresholds improved insignificantly at frequencies above 2 kHz. 52.9% of the patients used their device every day, and 76.5% used the device at least 5 days a week. Mean IOI-HA score was 3.4, corresponding to a good benefit. In SSQ-12, "quality of hearing" scored especially high. Patients with a conductive and/or mixed hearing loss benefitted the most. This device demonstrates a significant subjective hearing benefit 8 month post surgery. In patients with conductive and/or mixed hearing losses, patient satisfaction and frequency of use were high. Objective gain measures showed less promising results especially in patients with single-sided deafness (SSD) compared to other bone conduction devices.

14 Clinical Trial Significant regional differences in Denmark in outcome after cochlear implants in children. 2012

Percy-Smith, Lone / Busch, Georg W / Sandahl, Minna / Nissen, Lena / Josvassen, Jane Lignel / Bille, Michael / Lange, Theis / Cayé-Thomasen, Per. ·Implant Centre, Department of Audiology, Rigshospitalet, Denmark. loper@geh.regionh.dk ·Dan Med J · Pubmed #22549489.

ABSTRACT: INTRODUCTION: The objectives of the present study were to study regional differences in outcome for a paediatric cochlear implant (CI) population after the introduction of universal neonatal hearing screening (UNHS) and bilateral implantation in Denmark. MATERIAL AND METHODS: Data relate to 94 subjects. A test battery consisting of eight different tests/assessments was performed in order to report the level of audition, speech, language and self-esteem. For data analyses of any associations between the regions, Fisher's exact test was used. Potential rater variability within either of the centres was assessed using logistic regression models. RESULTS: The levels of audition were comparable between the group from West Denmark (West) and the group from East Denmark (East). In contrast, all tests of speech and language revealed a statistically significant difference between East and West. In all tests, West subjects scored significantly lower than East subjects. West children received more hours of speech therapy, more learning support assistance, and more parents used signing. Furthermore, the parents from West were significantly less involved in the auditory rehabilitation of their children than parents from East. CONCLUSION: The results were remarkable and call for a thorough evaluation of both the quality and organization of the paediatric CI population with particular concern for the paediatric CI population of West Denmark. FUNDING: The Oticon foundation financially supported this study. Trial registration was not relevant as the study is designed as a prospective case series. TRIAL REGISTRATION: not relevant.

15 Article Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform. 2019

Sun, Yan / Yuan, Jing / Wu, Limin / Li, Min / Cui, Xiaoli / Yan, Chengbin / Du, Lique / Mao, Liangwei / Man, Jianfen / Li, Wei / Kristiansen, Karsten / Wu, Xuan / Pan, Weijun / Yang, Yun. ·BGI Genomics, BGI-Shenzhen, Shenzhen, China. · Department of Biology, University of Copenhagen, Copenhagen, Denmark. · BGI-Wuhan, BGI-Shenzhen, Wuhan, China. · Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Anhui Province Key Laboratory of Reproductive Health and Genetics, Biopreservation and Artificial Organs, Anhui Provincial Engineering Research Center, Anhui Medical University. · Center for Reproductive Medicine and Prenatal Diagnosis, Anhui Provincial Hospital, The First Affiliated Hospital of University of Science and Technology of China, Hefei. · Prenatal Diagnosis Center, Yancheng Maternity and Child Health Care Hospital, Yancheng, Jiangsu Province. · College of Life Sciences, Hubei University, Wuhan. · The Center for Reproductive Medicine, Ma'anshan Maternal and Child Health Hospital, Ma'anshan, China. ·Medicine (Baltimore) · Pubmed #30896630.

ABSTRACT: Hearing loss is a highly heterogeneous disease presented with various phenotypes. Genetic testing of disease-causing mutations plays an important role in precise diagnosis and fertility guidance of heredity hearing loss. Here we reported an effective method employing target enrichment and BGISEQ-500 platform to detect clinically relevant alterations for heredity hearing patients in a single assay.In this study, we designed an array based chip, containing 127 genes related to hearing loss. Then we conducted targeted next-generation sequencing toward 58 patients to make a precise diagnosis using BGISEQ-500 platform.We successfully detected disease-causing mutations in 77.59% (45/58) of the patients with hearing loss. Finally, a total of 62 disease-causing mutations were identified, including 31 missense, 17 Indel, 11 splicing, 2 synonymous, and 1 copy number variant. 58.06% (36/62) of which has never been reported before.To our knowledge, this is the first report using BGISEQ-500 platform to investigate both syndromic and nonsyndromic hearing loss in the Chinese population. The results showed that this method can greatly assist and enhance hearing loss diagnosis and improve molecular diagnostics outcome.

16 Article Childhood hearing loss: Impact on parents and family life. 2019

Dammeyer, Jesper / Hansen, Anja Toft / Crowe, Kathryn / Marschark, Marc. ·University of Copenhagen, Department of Psychology, Denmark. Electronic address: Jesper.dammeyer@psy.ku.dk. · University of Copenhagen, Department of Psychology, Denmark. · National Technical Institute for the Deaf, Rochester Institute of Technology, USA. ·Int J Pediatr Otorhinolaryngol · Pubmed #30797110.

ABSTRACT: BACKGROUND: Studies investigating the impact of having a child with hearing loss on the lives of parents and families have shown divergent results. Where some studies have reported that childhood hearing loss is associated with parental mental health problems, such as depression and stress, other studies report no impact on parental mental health and/or wellbeing. OBJECTIVE: The aim of this study was to examine the association between child-related variables-degree of hearing loss, additional disabilities, sign language abilities, cochlear implants (CI), externalizing and internalizing emotional and behavioral difficulties measured by the Strength and Difficulties Questionnaire (SDQ)-and parent-related variables-parents living together, parents' mental health, spouse activities without children, and parents' experience of the child as being a burden for the family. METHOD: Data of 257 parents of children with hearing loss from a national survey were included. RESULTS: Only 18% of the children with hearing loss did not live with both parents, a figure significantly lower than that of the general population. The child variables of degree of hearing loss, having a CI or not, and sign language ability were not significantly associated with any of the parent variables investigated. The child having a disability in addition to hearing loss was found to be significantly associated with the frequency of spouses engaging in activities without children and reports that the child was a burden for the family. Both higher externalizing and internalizing scores on the SDQ were significantly associated with parental mental health problems, frequency of spouse activities without children, and the degree to which the child's difficulties were experienced as a burden for the family. CONCLUSION: Children's hearing loss, per se, was found not to be significantly related to several key parent and family variables. However, children having additional disabilities and behavioral and emotional difficulties were significant with parent and family variables. This study thus underlines the need for further studies concerning relationships among factors related to childhood hearing loss and various family factors in order to better understand their impact on child development and family life.

17 Article Language outcome in children with congenital hearing impairment: The influence of etiology. 2019

Dieleman, Eveline / Percy-Smith, Lone / Caye-Thomasen, Per. ·Department of Otorhinolaryngology, Head and Neck Surgery, and Audiology, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, 2100, Copenhagen, Denmark. Electronic address: eveline_dieleman@hotmail.com. · Patientforening Decibel, Rygårdsallé 43, 2900, Hellerup, Denmark. · Department of Otorhinolaryngology, Head and Neck Surgery, and Audiology, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, 2100, Copenhagen, Denmark. ·Int J Pediatr Otorhinolaryngol · Pubmed #30579085.

ABSTRACT: OBJECTIVES: To investigate the possible association between the etiology of hearing impairment (HI) and language outcome in children with congenital HI after an early medical-technical intervention and three years of AVT. METHODS: A retrospective, two-center study was conducted of 53 patients who were divided in four categories of etiology (degeneratio labyrinthi acustici (DLA) congenita hereditaria, DLA congenita non specificata, DLA congenita postinfectiosa and auditory neuropathy). Language outcome was assessed by examining receptive vocabulary (Peabody Picture Vocabulary Test, PPVT-4), receptive language (Reynell test) and productive language (the Danish 'Viborgmaterialet'). All tests were conducted 1, 2 and 3 years after the children received their hearing device. Test scores were calculated from the child's chronological age. Analysis of possible associations was performed using Fisher's exact test and McNemar's test was conducted to examine possible differences between each year of testing for every speech-language test. Subsequently, univariate analyses were performed to search for other possible covariates associated with language outcome. RESULTS: No significant associations were found between the etiology of the HI and the language outcome of children with HI after 1 year of AVT (PPVT, p = 0,234; Reynell, p = 0,845; Viborgmaterialet, p = 0,667), neither after 2 years of AVT (PPVT, p = 0,228; Reynell, p = 0,172; Viborgmaterialet, p = 0,659) nor after 3 years of AVT (PPVT, p = 0,102; Reynell, p = 0,512 Viborgmaterialet, p = 0,580). Some significant associations were found between language outcome and the type of hearing device and between language outcome and additional disabilities, however no strong evidence was found. CONCLUSION: Most children with congenital HI developed a comparable level of speech and language regardless of the etiology of their HI. This study highlights the interest of further research using objective assessments techniques in a larger and more homogeneous population. If the findings from this study will be confirmed in future studies, this will have a clinical and societal impact regarding the diagnostics of HI.

18 Article Wide diameter bone-anchored hearing system implants: a comparison of long-term follow-up data between tissue reduction and tissue preservation techniques. 2019

Reznitsky, Martin / Wielandt, Kirsten / Foghsgaard, Søren. ·Department of Otorhinolaryngology, Head and Neck Surgery and Audiology, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, 2100, Copenhagen, Denmark. Martin.reznitsky@gmail.com. · Department of Ear, Nose, Throat and Maxillofacial Surgery, Zealand University Hospital, Lykkebaekvej 1, 4600, Køge, Denmark. Martin.reznitsky@gmail.com. · Department of Otorhinolaryngology, Head and Neck Surgery and Audiology, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, 2100, Copenhagen, Denmark. ·Eur Arch Otorhinolaryngol · Pubmed #30535539.

ABSTRACT: OBJECTIVE: To present long-term data on the Wide Ponto implant bone-anchored hearing system (BAHS) in regards to implant stability, soft tissue reaction and implant loss for two case series undergone either the tissue reduction- or the tissue preservation surgical technique. METHODS: Comparison of two consecutive, prospective case series. Each case series enrolled 24 patients. The case series underwent one-stage implantation of the Wide Ponto implant BAHS using either a linear incision technique with subcutaneous reduction or a linear incision technique without subcutaneous reduction. Implant stability quotient (ISQ) values were measured using resonance frequency analysis and soft tissue reactions were graded according to Holgers' classification system. Follow-up visits were performed at 10 days, 6 weeks, 6 months, 12 months and annually up to 4 years (tissue preservation) or 5 years (tissue reduction) postoperatively. RESULTS: The two case series had homogenous patient populations and followed an identical postoperative scheme. The ISQ values increased consistently the first 12 months for both groups (p ≤ 0.001), and were higher in the tissue preservation case series, (p = 0.04, 9 mm abutment). More than 91% of the soft tissue observations were assessed as Holgers' grade 0 or 1. One implant (2.1%) was lost due to trauma. CONCLUSION: In both case series, the Wide Ponto implant showed increasing implant stability during the follow-up period from the time of surgery, irrespective of surgical technique, indicating good osseointegration. Soft tissue reactions were rare and of minor severity. Implant survival was high.

19 Article Hearing loss, cognitive ability, and dementia in men age 19-78 years. 2019

Osler, Merete / Christensen, Gunhild Tidemann / Mortensen, Erik Lykke / Christensen, Kaare / Garde, Ellen / Rozing, Maarten Pieter. ·Center for Clinical Research and Disease Prevention, Bispebjerg and Frederiksberg Hospitals, Nordre Fasanvej 57, 2000, Frederiksberg, Copenhagen, Denmark. Merete.osler@regionh.dk. · Department of Public Health, University of Copenhagen, Copenhagen, Denmark. Merete.osler@regionh.dk. · Danish Aging Research Center, Institute of Public Health, University of Southern Denmark, Odense, Denmark. Merete.osler@regionh.dk. · Center for Clinical Research and Disease Prevention, Bispebjerg and Frederiksberg Hospitals, Nordre Fasanvej 57, 2000, Frederiksberg, Copenhagen, Denmark. · Department of Public Health, University of Copenhagen, Copenhagen, Denmark. · Danish Aging Research Center, Institute of Public Health, University of Southern Denmark, Odense, Denmark. · Center for Healthy Aging, University of Copenhagen, Copenhagen, Denmark. · Department of Clinical Genetics, Odense University Hospital, Odense, Denmark. · Department of Clinical Biochemistry and Pharmacology, Odense University Hospital, Odense, Denmark. · The Research Unit for General Practice and Section of General Practice, Department of Public Health, University of Copenhagen, Copenhagen, Denmark. ·Eur J Epidemiol · Pubmed #30306425.

ABSTRACT: Hearing loss in later life has been associated with risk of dementia. The impact of risk factors for dementia may change during life, and it is unknown whether hearing loss early in midlife represents a risk factor for dementia. We examined whether hearing loss diagnosed in midlife was associated with an increased risk of dementia. A cohort comprising 942,567 Danish men enrolled in the mandatory conscription board examination was followed from conscription (age 19). Cognitive ability was measured at conscription, while hearing loss was ascertained either by physicians diagnosis at conscription or by the Danish National Patient Registry from 1977 to 2016 (ICD-8:388; 389; ICD-10:H90; H91). Differences in cognitive ability in relation to hearing loss at conscription were calculated using t test, while the risk of dementia associated with hearing loss was estimated using Cox regression with adjustment for cognitive ability, education, depression, diabetes, hypertension, and cerebrovascular disease. Men with hearing loss at conscription had about 2 points (corresponding to 0.20 SD) lower mean cognitive score than those without hearing loss. During follow-up, 59,834 men had a hearing loss diagnosis, while 9114 were diagnosed with dementia. Midlife hearing loss was associated with an increased rate of dementia diagnosed before age 60 (adjusted Hazard Ratio (HR) = 1.90 [95% CI 1.59-2.76]) or at a later age (adjusted HR = 1.15 [95% CI 1.06-1.25]). Our study supports the evidence that early identification and correction of hearing loss holds promise for prevention of dementia later in life.

20 Article Data-Driven Approach for Auditory Profiling and Characterization of Individual Hearing Loss. 2018

Sanchez Lopez, Raul / Bianchi, Federica / Fereczkowski, Michal / Santurette, Sébastien / Dau, Torsten. ·1 Hearing Systems Group, Department of Electrical Engineering, Technical University of Denmark, Kongens Lyngby, Denmark. · 2 Department of Otorhinolaryngology, Head and Neck Surgery and Audiology, Rigshospitalet, Copenhagen, Denmark. ·Trends Hear · Pubmed #30384803.

ABSTRACT: Pure-tone audiometry still represents the main measure to characterize individual hearing loss and the basis for hearing-aid fitting. However, the perceptual consequences of hearing loss are typically associated not only with a loss of sensitivity but also with a loss of clarity that is not captured by the audiogram. A detailed characterization of a hearing loss may be complex and needs to be simplified to efficiently explore the specific compensation needs of the individual listener. Here, it is hypothesized that any listener's hearing profile can be characterized along two dimensions of distortion: Type I and Type II. While Type I can be linked to factors affecting audibility, Type II reflects non-audibility-related distortions. To test this hypothesis, the individual performance data from two previous studies were reanalyzed using an unsupervised-learning technique to identify extreme patterns in the data, thus forming the basis for different auditory profiles. Next, a decision tree was determined to classify the listeners into one of the profiles. The analysis provides evidence for the existence of four profiles in the data. The most significant predictors for profile identification were related to binaural processing, auditory nonlinearity, and speech-in-noise perception. This approach could be valuable for analyzing other data sets to select the most relevant tests for auditory profiling and propose more efficient hearing-deficit compensation strategies.

21 Article Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases. 2018

Aristidou, Constantia / Theodosiou, Athina / Bak, Mads / Mehrjouy, Mana M / Constantinou, Efthymia / Alexandrou, Angelos / Papaevripidou, Ioannis / Christophidou-Anastasiadou, Violetta / Skordis, Nicos / Kitsiou-Tzeli, Sophia / Tommerup, Niels / Sismani, Carolina. ·Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus. · The Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus. · Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N., Denmark. · Department of Clinical Genetics, The Cyprus Institute of Neurology and Genetics and Archbishop Makarios III Medical Centre, Nicosia, Cyprus. · Division of Pediatric Endocrinology, Paedi Center for Specialized Pediatrics, Nicosia, Cyprus. · St George's University of London Medical School at the University of Nicosia, Nicosia, Cyprus. · Department of Medical Genetics, Medical School, University of Athens, Athens, Greece. ·PLoS One · Pubmed #30289920.

ABSTRACT: The majority of apparently balanced translocation (ABT) carriers are phenotypically normal. However, several mechanisms were proposed to underlie phenotypes in affected ABT cases. In the current study, whole-genome mate-pair sequencing (WG-MPS) followed by Sanger sequencing was applied to further characterize de novo ABTs in three affected individuals. WG-MPS precisely mapped all ABT breakpoints and revealed three possible underlying molecular mechanisms. Firstly, in a t(X;1) carrier with hearing loss, a highly skewed X-inactivation pattern was observed and the der(X) breakpoint mapped ~87kb upstream an X-linked deafness gene namely POU3F4, thus suggesting an underlying long-range position effect mechanism. Secondly, cryptic complexity and a chromothripsis rearrangement was identified in a t(6;7;8;12) carrier with intellectual disability. Two translocations and a heterozygous deletion disrupted SOX5; a dominant nervous system development gene previously reported in similar patients. Finally, a direct gene disruption mechanism was proposed in a t(4;9) carrier with dysmorphic facial features and speech delay. In this case, the der(9) breakpoint directly disrupted NFIB, a gene involved in lung maturation and development of the pons with important functions in main speech processes. To conclude, in contrast to familial ABT cases with identical rearrangements and discordant phenotypes, where translocations are considered coincidental, translocations seem to be associated with phenotype presentation in affected de novo ABT cases. In addition, this study highlights the importance of investigating both coding and non-coding regions to decipher the underlying pathogenic mechanisms in these patients, and supports the potential introduction of low coverage WG-MPS in the clinical investigation of de novo ABTs.

22 Article Measuring the Impact of Tinnitus on Aided Listening Effort Using Pupillary Response. 2018

Juul Jensen, Josefine / Callaway, Susanna L / Lunner, Thomas / Wendt, Dorothea. ·1 Department of Nordic Studies and Linguistics, University of Copenhagen, Denmark. · 2 Centre for Applied Audiology Research, Oticon A/S, Smørum, Denmark. · 3 Department of Behavioral Sciences and Learning, Linköping University. · 4 The Swedish Institute for Disability Research, Linköping University and Örebro University, Sweden. · 5 Eriksholm Research Centre, Snekkersten, Denmark. · 6 Hearing Systems Group, Department of Electrical Engineering, Technical University of Denmark, Kongens Lyngby, Denmark. ·Trends Hear · Pubmed #30205768.

ABSTRACT: Tinnitus can have serious impact on a person's life and is a common auditory symptom that is especially comorbid with hearing loss. This study investigated processing effort required for speech recognition in a group of hearing-impaired people with tinnitus and a control group (CG) of hearing-impaired people without tinnitus by means of pupillary response. Furthermore, the relationship between the pupillary response, self-rating measures of tinnitus severity, and fatigue was examined. Participants performed a speech-in-noise task with a competing four-talker babble at two speech intelligibility levels (50% and 95%) with either an active or inactive noise-reduction scheme while the pupillary response was recorded. Tinnitus participants showed significantly smaller time-dependent pupil dilations and significantly higher fatigue ratings. No correlation was found for the tinnitus severity and pupillary response, but a significant correlation was found between the tinnitus severity and fatigue. As participants with tinnitus generally reported higher fatigue and showed smaller task-evoked pupil dilations, it was speculated that this may suggest an increased activity of the parasympathetic nervous system, which governs the bodily response during rest. The finding that tinnitus participants showed higher fatigue has clinical implications, highlighting the importance of taking steps to decrease the risk of developing long-term fatigue. Finally, the tinnitus participants showed reduced pupillary responses when noise reduction was activated, suggesting a reduced effort from hearing aid signal processing.

23 Article Ocular albinism with infertility and late-onset sensorineural hearing loss. 2018

Fabian-Jessing, Bjørn K / Vestergaard, Else Marie / Plomp, Astrid S / Bergen, Arthur A / Dreschler, Wouter A / Duno, Morten / Winiarska, Beata S / Neumann, Linda / Gaihede, Michael / Vorum, Henrik / Petersen, Michael B. ·Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark. · Department of Clinical Medicine, Aalborg University, Aalborg, Denmark. · Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark. · Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands. · Department of Otorhinolaryngology Head and Neck Surgery, Academic Medical Center, Amsterdam, The Netherlands. · Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark. · Department of Ophthalmology, Aalborg University Hospital, Aalborg, Denmark. · Department of Otolaryngology, Head and Neck Surgery, Aalborg University Hospital, Aalborg, Denmark. ·Am J Med Genet A · Pubmed #30160833.

ABSTRACT: Ocular albinism type 1 (OA1) is caused by mutations in the GPR143 gene located at Xp22.2. The manifestations, which are due to hypopigmentation, are confined to the eyes and optic pathway. OA1 associated with late-onset sensorineural hearing loss was previously reported in a single family and hypothesized to be caused by a contiguous gene deletion syndrome involving GPR143 and the adjacent gene, TBL1X. Here, we report on a family with OA1, infertility, late-onset sensorineural hearing loss, and a small interstitial Xp microdeletion including the GPR143, TBL1X, and SHROOM2 genes. In addition, we re-examined a patient previously described with OA1, infertility and a similar Xp deletion with audiologic follow-up showing a late-onset sensorineural hearing loss. Our results raise an intriguing question about the possibility for TBL1X (absence) involvement in this type of hearing loss. However, our study cannot claim a causative relationship and more convincing evidence is needed before the hypothesis can be accepted that TBL1X could be involved in late-onset sensorineural hearing loss and that ocular albinism with late-onset sensorineural hearing loss can present itself as a contiguous gene deletion/microdeletion syndrome. The finding of infertility in all affected male patients demonstrates that this deletion, including the SHROOM2 gene, may be a potentially causative X-linked genetic factor of male infertility.

24 Article Osteogenesis imperfecta and the teeth, eyes, and ears-a study of non-skeletal phenotypes in adults. 2018

Hald, J D / Folkestad, L / Swan, C Z / Wanscher, J / Schmidt, M / Gjørup, H / Haubek, D / Leonhard, C-H / Larsen, D A / Hjortdal, J Ø / Harsløf, T / Duno, M / Lund, A M / Jensen, J-E B / Brixen, K / Langdahl, B. ·Department of Endocrinology and Internal Medicine, Aarhus University Hospital, DK-8200, Aarhus N, Denmark. janniehald@gmail.com. · Department of Endocrinology, Odense University Hospital, Odense, Denmark. · Department of Clinical Research, University of Southern Denmark, Odense, Denmark. · Department of Otorhinolaryngology and Head & Neck Surgery, Aarhus University Hospital, Aarhus, Denmark. · Department of Clinical Medicine, Aarhus University, Aarhus, Denmark. · Department of ENT Head and Neck Surgery, Odense University Hospital, Odense, Denmark. · Section for Pediatric Dentistry, Department of Dentistry and Oral Health, Health, Aarhus University, Aarhus, Denmark. · Centre of Oral Health in Rare Diseases, Department of Maxillofacial Surgery, Aarhus University Hospital, Aarhus, Denmark. · Department of Ophthalmology, Aarhus University Hospital, Aarhus, Denmark. · Department of Endocrinology and Internal Medicine, Aarhus University Hospital, DK-8200, Aarhus N, Denmark. · Centre for Inherited Metabolic Diseases, Departments of Paediatrics and Clinical Genetics, Rigshospitalet, Copenhagen, Denmark. · Department of Endocrinology, Hvidovre Hospital, Hvidovre, Denmark. ·Osteoporos Int · Pubmed #30143849.

ABSTRACT: Osteogenesis imperfecta (OI) is a disease causing bone fragility; however, it potentially affects all organs with a high content of collagen, including ears, teeth, and eyes. The study is cross-sectional and compares non-skeletal characteristics in adults with OI that clinicians should be aware of when caring for patients with OI. INTRODUCTION: Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder. The skeletal fragility is pronounced; however, OI leads to a number of extra-skeletal symptoms related to the ubiquity of collagen type 1 throughout the human body. The vast majority of knowledge is derived from studies performed in the pediatric population. Thus, we aimed to investigate the nature and prevalence of ophthalmologic, odontologic, and otologic phenotypes in an adult population with OI. METHODS: The study population comprises 85 Danish OI patients (age 44.9 ± 15.9 years). Fifty-eight patients had OI type I, 12 OI type III, and 15 OI type IV according to the classification by Sillence. Audiometric evaluations and dental examinations were performed in 62 and 73 patients, respectively. Ophthalmologic investigations were performed in 64 patients, including measurements of the central corneal thickness. RESULTS: All patients, except two, had corneal thickness below the normal reference value. Patients with OI type I and patients with a quantitative collagen defect had thinner corneas compared to patients with OI type III and other patients with a qualitative collagen defect. One patient in this cohort was diagnosed with and treated for acute glaucoma. Dentinogenesis imperfecta was diagnosed in one fourth of the patients, based on clinical and radiographic findings. This condition was predominately seen in patients with moderate to severe OI. Hearing loss requiring treatment was found in 15 of 62 patients, of whom three were untreated. The most prevalent type of hearing loss (HL) was sensorineural hearing loss, whereas conductive HL was solely seen in patients with OI type III. The patients with the most severe degrees of HL were patients with mild forms of OI. Age was associated with increased HL. CONCLUSION: Although significant health problems outside the skeleton are frequent in adult patients with OI, the patients are not consistently monitored and treated for their symptoms. Clinicians treating adult patients with OI should be aware of non-skeletal health issues and consider including regular interdisciplinary check-ups in the management plan for adult OI patients.

25 Article Differences and similarities in early vocabulary development between children with hearing aids and children with cochlear implant enrolled in 3-year auditory verbal intervention. 2018

Percy-Smith, Lone / Hallstrøm, Maria / Josvassen, Jane Lignel / Mikkelsen, Jeanette Hølledig / Nissen, Lena / Dieleman, Eveline / Cayé-Thomasen, Per. ·Patientforening Decibel, Rygårdsallé 43, 2900, Hellerup, Denmark; East Danish CI Center, Department of Otolaryngology, Head and Neck Surgery, Rigshospitalet, F 2071, Copenhagen University Hospital, Blegdamsvej 9, DK 2100, Copenhagen, Denmark. Electronic address: Lone@decibel.dk. · Patientforening Decibel, Rygårdsallé 43, 2900, Hellerup, Denmark. · Vestdansk CI-Center / Audiologisk Klinik, Aarhus Universitetshospital, Peter Sabroes Gade 6, Bygn. 14F, 8000, Aarhus C, Denmark. · Department of Otolaryngology, Head and Neck Surgery, Rigshospitalet, F 2071, Copenhagen University Hospital, Blegdamsvej 9, DK 2100, Copenhagen, Denmark. ·Int J Pediatr Otorhinolaryngol · Pubmed #29605368.

ABSTRACT: OBJECTIVE: The overall objective of this study was to evaluate the implementation of a Nordic Auditory Verbal (AV) intervention for children with all degrees and types of hearing impairment (HI) using all kinds of hearing technology. A first specific objective was to identify differences and similarities in early vocabulary development between children with cochlear implant (CI) compared with children with hearing aids (HAs)/Bone anchored hearing aids (Bahs) enrolled in a 3-year AVprogram, and to compare the group of children with HI to a control group of children with normal hearing (NH). A second specific objective was to study universal neonatal hearing screening (UNHS) using the 1-3-6 Early Hearing Detection and Intervention (EHDI) guidelines. INTRODUCTION: Effect of AV intervention for children with HI using different hearing technology is not thoroughly studied. It is relevant to question, whether children with mild to moderate HI encounter the same intensive need for AV intervention as children with congenital deafness. METHODS: A longitudinal and comparative study design was used involving two cohorts of children, i.e. 36 children with CI and 19 children with HA/Bahs. The children were the first in Denmark to receive a 3-year AV intervention by formally trained AV-practitioners. Children were tested annually with standardized speech and language tests, i.e. Peabody Picture Vocabulary test, Reynell test and a Danish test for active vocabulary, Viborgmaterialet. Categorical variables were compared using Fischer's exact test and continuous variables were compared using Wilcoxon-Mann-Whitney test, as data was not normally distributed. RESULTS: Median age of diagnosis was 6 months and median age at intervention was 13 and 12 months respectively. There was no statistically significant difference between the two groups in terms of scores according to age equivalency for the three tests. However, there was a significant difference between children with HI regardless of hearing technology and children with NH. CONCLUSION: Children with HI progressed over a three-year period, but they did not reach the same level as children with NH. The high completion rate of 98,2% of families over a three-year period indicates the relevance of AV practice in a Nordic country. Children were diagnosed later than 3 months and intervention also started later than recommended. A result that warrants further investigation.