{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T04:37:28Z","timestamp":1760243848571,"version":"build-2065373602"},"reference-count":52,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2022,10,22]],"date-time":"2022-10-22T00:00:00Z","timestamp":1666396800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>The relationship between speech recognition and hereditary hearing loss is not straightforward. Underlying genetic defects might determine an impaired cochlear processing of sound. We obtained data from nine groups of patients with a specific type of genetic hearing loss. For each group, the affected cochlear site-of-lesion was determined based on previously published animal studies. Retrospectively obtained speech recognition scores in noise were related to several aspects of supra-threshold cochlear processing as assessed by psychophysical measurements. The differences in speech perception in noise between these patient groups could be explained by these factors and partially by the hypothesized affected structure of the cochlea, suggesting that speech recognition in noise was associated with a genetics-related malfunctioning of the cochlea. In particular, regression models indicate that loudness growth and spectral resolution best describe the cochlear distortions and are thus a good biomarker for speech understanding in noise.<\/jats:p>","DOI":"10.3390\/genes13111923","type":"journal-article","created":{"date-parts":[[2022,10,24]],"date-time":"2022-10-24T02:31:03Z","timestamp":1666578663000},"page":"1923","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic Hearing Loss Affects Cochlear Processing"],"prefix":"10.3390","volume":"13","author":[{"given":"Cris","family":"Lanting","sequence":"first","affiliation":[{"name":"Department of Otorhinolaryngology, Radboud University Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Postbus 9101, 6500 HB Nijmegen, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ad","family":"Snik","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Radboud University Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Postbus 9101, 6500 HB Nijmegen, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joop","family":"Leijendeckers","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Radboud University Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Postbus 9101, 6500 HB Nijmegen, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5016-989X","authenticated-orcid":false,"given":"Arjan","family":"Bosman","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Radboud University Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Postbus 9101, 6500 HB Nijmegen, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5517-9683","authenticated-orcid":false,"given":"Ronald","family":"Pennings","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Radboud University Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Postbus 9101, 6500 HB Nijmegen, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,10,22]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1007\/s00106-013-2813-1","article-title":"Speech perception with hearing aids in comparison to pure-tone hearing loss","volume":"62","author":"Hoppe","year":"2014","journal-title":"HNO"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1097\/AUD.0b013e31822229d3","article-title":"A Neural Basis of Speech-in-Noise Perception in Older Adults","volume":"32","author":"Anderson","year":"2011","journal-title":"Ear Hear."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"260","DOI":"10.3109\/00206099509071918","article-title":"Intelligibility of Dutch CVC syllables and sentences for listeners with normal hearing and with three types of hearing impairment","volume":"34","author":"Bosman","year":"1995","journal-title":"Audiology"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1177\/0003489415611424","article-title":"Speech Recognition in Noise by Younger and Older Adults: Effects of Age, Hearing Loss, and Temporal Resolution","volume":"125","author":"Vermeire","year":"2015","journal-title":"Ann. Otol. Rhinol. Laryngol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"779","DOI":"10.3766\/jaaa.23.10.4","article-title":"The Relationship between High-Frequency Pure-Tone Hearing Loss, Hearing in Noise Test (HINT) Thresholds, and the Articulation Index","volume":"23","author":"Vermiglio","year":"2012","journal-title":"J. Am. Acad. Audiol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"55","DOI":"10.3389\/fnsys.2013.00055","article-title":"Auditory and cognitive factors underlying individual differences in aided speech-understanding among older adults","volume":"7","author":"Humes","year":"2013","journal-title":"Front. Syst. Neurosci."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"157","DOI":"10.3109\/14992027.2015.1104735","article-title":"The influence of lexical-access ability and vocabulary knowledge on measures of speech recognition in noise","volume":"55","author":"Kaandorp","year":"2015","journal-title":"Int. J. Audiol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1097\/AUD.0b013e3182994eee","article-title":"Decline in Older Persons\u2019 Ability to Recognize Speech in Noise: The influence of demographic, health-related, environmental, and cognitive factors","volume":"34","author":"Pronk","year":"2013","journal-title":"Ear Hear."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"e129","DOI":"10.1097\/AUD.0000000000000134","article-title":"Deterioration of Speech Recognition Ability Over a Period of 5 Years in Adults Ages 18 to 70 Years: Results of the Dutch Online Speech-in-Noise Test","volume":"36","author":"Stam","year":"2015","journal-title":"Ear Hear."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1121\/1.381753","article-title":"Auditory handicap of hearing impairment and the limited benefit of hearing aids","volume":"63","author":"Plomp","year":"1978","journal-title":"J. Acoust. Soc. Am."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"43","DOI":"10.3109\/00206097909072618","article-title":"Improving the Reliability of Testing the Speech Reception Threshold for Sentences","volume":"18","author":"Plomp","year":"1979","journal-title":"Int. J. Audiol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1045","DOI":"10.1001\/archotol.127.9.1045","article-title":"Speech Recognition Scores Related to Age and Degree of Hearing Impairment in DFNA2\/KCNQ4 and DFNA9\/COCH","volume":"127","author":"Bom","year":"2001","journal-title":"Arch. Otolaryngol.-Head Neck Surg."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1159\/000189265","article-title":"Audiometric Characteristics of USH2a Patients","volume":"14","author":"Leijendeckers","year":"2009","journal-title":"Audiol. Neurotol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/j.cell.2009.09.010","article-title":"Mechanotransduction by Hair Cells: Models, Molecules, and Mechanisms","volume":"139","author":"Gillespie","year":"2009","journal-title":"Cell"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1038\/ncomms1533","article-title":"Integrating the biophysical and molecular mechanisms of auditory hair cell mechanotransduction","volume":"2","author":"Peng","year":"2011","journal-title":"Nat. Commun."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1007\/s10162-010-0214-7","article-title":"Chronic Reduction of Endocochlear Potential Reduces Auditory Nerve Activity: Further Confirmation of an Animal Model of Metabolic Presbyacusis","volume":"11","author":"Lang","year":"2010","journal-title":"J. Assoc. Res. Otolaryngol."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"4717","DOI":"10.1016\/j.bpj.2009.02.056","article-title":"Col11a2 Deletion Reveals the Molecular Basis for Tectorial Membrane Mechanical Anisotropy","volume":"96","author":"Masaki","year":"2009","journal-title":"Biophys. J."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1177\/00034894931020S101","article-title":"Cochlear Pathology in Presbycusis","volume":"102","author":"Schuknecht","year":"1993","journal-title":"Ann. Otol. Rhinol. Laryngol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1002\/lary.27991","article-title":"Assessing fractional hair cell survival in archival human temporal bones","volume":"130","author":"Wu","year":"2019","journal-title":"Laryngoscope"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"6357","DOI":"10.1523\/JNEUROSCI.0937-20.2020","article-title":"Age-Related Hearing Loss Is Dominated by Damage to Inner Ear Sensory Cells, Not the Cellular Battery That Powers Them","volume":"40","author":"Wu","year":"2020","journal-title":"J. Neurosci."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"4439","DOI":"10.1523\/JNEUROSCI.3238-20.2021","article-title":"Primary Neural Degeneration in Noise-Exposed Human Cochleas: Correlations with Outer Hair Cell Loss and Word-Discrimination Scores","volume":"41","author":"Wu","year":"2021","journal-title":"J. Neurosci."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"922","DOI":"10.1177\/000348940411301112","article-title":"Audiological Characteristics of Some Affected Members of a Dutch DFNA13\/COL11A2 Family","volume":"113","author":"Bosman","year":"2004","journal-title":"Ann. Otol. Rhinol. Laryngol."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"e84","DOI":"10.1097\/AUD.0000000000000008","article-title":"Similar Phenotypes Caused by Mutations in OTOG and OTOGL","volume":"35","author":"Oonk","year":"2014","journal-title":"Ear Hear."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1016\/j.heares.2012.12.015","article-title":"Progressive hereditary hearing impairment caused by a MYO6 mutation resembles presbyacusis","volume":"299","author":"Oonk","year":"2013","journal-title":"Hear. Res."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s10162-006-0060-9","article-title":"Audiological Evaluation of Affected Members from a Dutch DFNA8\/12 (TECTA) Family","volume":"8","author":"Plantinga","year":"2006","journal-title":"J. Assoc. Res. Otolaryngol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1097\/AUD.0000000000000217","article-title":"Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment","volume":"37","author":"Oonk","year":"2016","journal-title":"Ear Hear."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1159\/000356303","article-title":"Audiometric Characteristics of a Dutch Family with a New Mutation in GATA3 Causing HDR Syndrome","volume":"19","author":"Leijendeckers","year":"2014","journal-title":"Audiol. Neurotol."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/j.heares.2012.07.001","article-title":"Audiometric characteristics of two Dutch families with non-ocular Stickler syndrome (COL11A2)","volume":"291","author":"Leijendeckers","year":"2012","journal-title":"Hear. Res."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1016\/j.heares.2011.07.006","article-title":"Audiometric characteristics of a Dutch family with Muckle-Wells syndrome","volume":"282","author":"Weegerink","year":"2011","journal-title":"Hear. Res."},{"key":"ref_30","unstructured":"Dillon, H. (2012). Hearing Aids, Thieme. [2nd ed.]."},{"key":"ref_31","doi-asserted-by":"crossref","unstructured":"Gordon-Salant, S., Frisina, R.D., Popper, A.N., and Fay, R.R. (2010). Factors Affecting Speech Understanding in Older Adults. The Aging Auditory System, Springer. Springer Handbook of Auditory Research.","DOI":"10.1007\/978-1-4419-0993-0"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1177\/108471380200600302","article-title":"Methods and Applications of the Audibility Index in Hearing Aid Selection and Fitting","volume":"6","author":"Amlani","year":"2002","journal-title":"Trends Amplif."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1097\/00025572-199805000-00002","article-title":"The case of the missing dots: Al and SNR loss","volume":"51","author":"Killion","year":"1998","journal-title":"Hear. J."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1080\/16513860301713","article-title":"Recommendations for the description of genetic and audiological data for families with nonsyndromic hereditary hearing impairment","volume":"1","author":"Mazzoli","year":"2003","journal-title":"Audiol. Med."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"6S","DOI":"10.1177\/0003489415575549","article-title":"Gene Expression Profiles of the Cochlea and Vestibular Endorgans: Localization and function of genes causing deafness","volume":"124","author":"Nishio","year":"2015","journal-title":"Ann. Otol. Rhinol. Laryngol."},{"key":"ref_36","doi-asserted-by":"crossref","unstructured":"Van Esch, T.E.M., and Dreschler, W.A. (2015). Relations Between the Intelligibility of Speech in Noise and Psychophysical Measures of Hearing Measured in Four Languages Using the Auditory Profile Test Battery. Trends Hear., 19.","DOI":"10.1177\/2331216515618902"},{"key":"ref_37","doi-asserted-by":"crossref","unstructured":"Dryden, A., Allen, H.A., Henshaw, H., and Heinrich, A. (2017). The Association Between Cognitive Performance and Speech-in-Noise Perception for Adult Listeners: A Systematic Literature Review and Meta-Analysis. Trends Hear., 21.","DOI":"10.1177\/2331216517744675"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"782","DOI":"10.3389\/fpsyg.2015.00782","article-title":"The relationship of speech intelligibility with hearing sensitivity, cognition, and perceived hearing difficulties varies for different speech perception tests","volume":"6","author":"Heinrich","year":"2015","journal-title":"Front. Psychol."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"45","DOI":"10.7874\/kja.2013.17.2.45","article-title":"Pathophysiology of Age-Related Hearing Loss (Peripheral and Central)","volume":"17","author":"Lee","year":"2013","journal-title":"Korean J. Audiol."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1097\/01.moo.0000134450.99615.22","article-title":"Age-related hearing loss: The status of Schuknecht\u2019s typology","volume":"12","author":"Ohlemiller","year":"2004","journal-title":"Curr. Opin. Otolaryngol. Head Neck Surg."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"25948","DOI":"10.1073\/pnas.1902781116","article-title":"Otogelin, otogelin-like, and stereocilin form links connecting outer hair cell stereocilia to each other and the tectorial membrane","volume":"116","author":"Avan","year":"2019","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1080\/14992020802127109","article-title":"On the auditory and cognitive functions that may explain an individual\u2019s elevation of the speech reception threshold in noise","volume":"47","author":"Houtgast","year":"2008","journal-title":"Int. J. Audiol."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1121\/1.2743154","article-title":"Individual differences in auditory abilities","volume":"122","author":"Kidd","year":"2007","journal-title":"J. Acoust. Soc. Am."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1016\/j.heares.2016.06.008","article-title":"A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa","volume":"339","author":"Hartel","year":"2016","journal-title":"Hear. Res."},{"key":"ref_45","doi-asserted-by":"crossref","unstructured":"Robijn, S.M.M., Smits, J.J., Sezer, K., Huygen, P.L.M., Beynon, A.J., van Wijk, E., Kremer, H., de Vrieze, E., Lanting, C.P., and Pennings, R.J.E. (2022). Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis. Biomolecules, 12.","DOI":"10.3390\/biom12020220"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"832","DOI":"10.3109\/14992027.2013.839885","article-title":"Expressivity of hearing loss in cases with Usher syndrome type IIA","volume":"52","author":"Sadeghi","year":"2013","journal-title":"Int. J. Audiol."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"13997","DOI":"10.1038\/s41598-020-70952-9","article-title":"Speech-in-noise detection is related to auditory working memory precision for frequency","volume":"10","author":"Lad","year":"2020","journal-title":"Sci. Rep."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"876","DOI":"10.1001\/jamaoto.2018.1656","article-title":"Association of Cognition and Age-Related Hearing Impairment in the English Longitudinal Study of Ageing","volume":"144","author":"Ray","year":"2018","journal-title":"JAMA Otolaryngol. Neck Surg."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"305","DOI":"10.3109\/14992027.2012.759665","article-title":"Evaluation of the preliminary auditory profile test battery in an international multi-centre study","volume":"52","author":"Kollmeier","year":"2013","journal-title":"Int. J. Audiol."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"724007","DOI":"10.3389\/fnins.2021.724007","article-title":"Auditory Tests for Characterizing Hearing Deficits in Listeners With Various Hearing Abilities: The BEAR Test Battery","volume":"15","author":"Nielsen","year":"2021","journal-title":"Front. Neurosci."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"912","DOI":"10.1016\/j.drudis.2021.11.009","article-title":"The global hearing therapeutic pipeline: 2021","volume":"27","author":"Isherwood","year":"2021","journal-title":"Drug Discov. Today"},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1159\/000455705","article-title":"Biomarkers for Hearing Dysfunction: Facts and Outlook","volume":"79","author":"Zimmermann","year":"2017","journal-title":"ORL"}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/13\/11\/1923\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:00:56Z","timestamp":1760144456000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/13\/11\/1923"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,10,22]]},"references-count":52,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2022,11]]}},"alternative-id":["genes13111923"],"URL":"https:\/\/doi.org\/10.3390\/genes13111923","relation":{},"ISSN":["2073-4425"],"issn-type":[{"type":"electronic","value":"2073-4425"}],"subject":[],"published":{"date-parts":[[2022,10,22]]}}}