{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T19:43:30Z","timestamp":1740167010967,"version":"3.37.3"},"reference-count":28,"publisher":"Georg Thieme Verlag KG","issue":"04","license":[{"start":{"date-parts":[[2024,10,25]],"date-time":"2024-10-25T00:00:00Z","timestamp":1729814400000},"content-version":"vor","delay-in-days":24,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Int Arch Otorhinolaryngol"],"published-print":{"date-parts":[[2024,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>\n          Introduction\u2003Cornelia de Lange Syndrome (CdLS) is a genetic disorder in which individuals may present sensorineural and\/or conductive hearing loss, and the results of behavioral auditory assessments are not accurate.<\/jats:p><jats:p>\n          Objective\u2003To characterize the audiological profile of individuals with CdLS through behavioral, electroacoustic, and electrophysiological audiological assessments.<\/jats:p><jats:p>\n          Methods\u2003The study included 13 individuals of both sexes, aged between 3 and 26 years, with diagnoses confirmed through genetic studies. The following procedures were performed: medical history survey, otoscopy (pure-tone audiometry [PTA], speech audiometry, and acoustic immittance measures), and auditory brainstem response (ABR).<\/jats:p><jats:p>\n          Results\u2003In total 62.50% of the participants who underwent PTA had abnormal results (all of which were mild), with a predominance of bilateral conductive hearing loss (60%). Regarding tympanometry, 76.93% had abnormal results, most frequently type B (85.72% on the right and 88.89% on the left ear). Acoustic reflexes showed results compatible with tympanometry changes. Changes in ABR latency values compatible with middle-ear impairment were found in 8 of them (66.66%) \u2013 3 had bilateral (37.50%), and 5 had unilateral impairments (62.50%).<\/jats:p><jats:p>\n          Conclusion\u2003Mild hearing loss was identified in 62.5% of the individuals with CdLS who underwent the behavioral audiological assessment. In the acoustic immittance measures, 76.9% of the participants presented a tympanometry curve characteristic of middle-ear changes. Acoustic reflexes were absent in 84.6% of the subjects. In the ABR, no changes were identified in auditory pathway integrity. On the other hand, changes in the absolute latency values were found, which are characteristic of conductive hearing loss.<\/jats:p>","DOI":"10.1055\/s-0044-1788001","type":"journal-article","created":{"date-parts":[[2024,10,25]],"date-time":"2024-10-25T22:30:22Z","timestamp":1729895422000},"page":"e626-e633","source":"Crossref","is-referenced-by-count":0,"title":["Audiological Characterization of Individuals with Cornelia de Lange Syndrome"],"prefix":"10.1055","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2819-7904","authenticated-orcid":false,"given":"Nayara Pereira","family":"Santos","sequence":"additional","affiliation":[{"name":"Department of Physiotherapy, Speech Therapy, and Occupational Therapy, School of Medicine, Universidade de S\u00e3o Paulo (FMUSP), S\u00e3o Paulo, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8985-0447","authenticated-orcid":false,"given":"Liliane Aparecida Fagundes","family":"Silva","sequence":"additional","affiliation":[{"name":"Department of Physiotherapy, Speech Therapy, and Occupational Therapy, School of Medicine, Universidade de S\u00e3o Paulo (FMUSP), S\u00e3o Paulo, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3481-0100","authenticated-orcid":false,"given":"Ivone Ferreira","family":"Neves-Lobo","sequence":"additional","affiliation":[{"name":"Department of Physiotherapy, Speech Therapy, and Occupational Therapy, School of Medicine, Universidade de S\u00e3o Paulo (FMUSP), S\u00e3o Paulo, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1754-1300","authenticated-orcid":false,"given":"Chong Ae","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Genetics, Instituto da Crian\u00e7a e do Adolescente, Hospital das Cl\u00ednicas, School of Medicine, Universidade de S\u00e3o Paulo (HCFMUSP), S\u00e3o Paulo, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9408-7172","authenticated-orcid":false,"given":"Carla Gentile","family":"Matas","sequence":"additional","affiliation":[{"name":"Department of Physiotherapy, Speech Therapy, and Occupational Therapy, School of Medicine, Universidade de S\u00e3o Paulo (FMUSP), S\u00e3o Paulo, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2024,10,25]]},"reference":[{"key":"ref1","first-page":"182","volume-title":"Atlas de s\u00edndromes cl\u00ednicas dism\u00f3rficas","author":"H R Wiedemann","year":"1992"},{"issue":"12","key":"ref2","doi-asserted-by":"crossref","first-page":"1287","DOI":"10.1002\/ajmg.a.31757","article-title":"Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance","volume":"143A","author":"A D Kline","year":"2007","journal-title":"Am J Med Genet 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