{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T21:51:49Z","timestamp":1793137909758,"version":"4.5.0"},"reference-count":24,"publisher":"American Speech Language Hearing Association","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am J Audiol"],"published-print":{"date-parts":[[2024,3,4]]},"abstract":"<jats:sec>\n                    <jats:title>Purpose:<\/jats:title>\n                    <jats:p>Uncorrected hearing loss can result in detrimental sequelae. Research addressing clinical presentation and genetic testing would inform clinical decision making.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Method:<\/jats:title>\n                    <jats:p>\n                      A retrospective chart review of 96 patients aged 1 month to 46 years (median age\n                      <jats:italic toggle=\"yes\"\/>\n                      <jats:sub\/>\n                      = 6 years) diagnosed with hearing loss or deafness and who underwent genetic testing at University of Rochester Medical Center from 2011 to 2021. Chi-square and Fisher's exact tests examined the relationship between a diagnostic positive genetic test result and various characteristics of hearing loss, including congenital (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 52), noncongenital (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 34), prelingual (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 53), postlingual (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 33), progressive (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 13), not progressive (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 47), bilateral (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 67), unilateral (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 26), sensorineural (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 68), conductive (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 14), mixed (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 5), syndromic (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 10), and nonsyndromic (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 87) hearing loss. We also examined the number of patients with presence of developmental disabilities (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 35), having a first-degree relative with hearing loss (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 19), having hearing aids or cochlear implants (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 45), and having a multisystem presentation prior to diagnosis (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 45).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      Patients with sensorineural hearing loss (44.1%) had significantly more diagnostic positive results than those with mixed (0%) or conductive hearing loss (21.4%),\n                      <jats:italic toggle=\"yes\">p<\/jats:italic>\n                      = .004. However, significantly fewer patients with disabilities (19.4%) had diagnostic positive tests than those without disabilities (43.3%),\n                      <jats:italic toggle=\"yes\">p<\/jats:italic>\n                      &lt; .05. More patients with a multisystem presentation were also found to have syndromic causes of hearing loss (23.3%) than patients who did not have a multisystem presentation,\n                      <jats:italic toggle=\"yes\">p<\/jats:italic>\n                      &lt; .05.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>Our study suggests a significant association between sensorineural type of hearing loss and a diagnostic positive genetic test result, while the presence of disabilities was significantly associated with a nondiagnostic genetic test result. Knowledge of these findings is critical for understanding the cause of the hearing loss, identifying other associated symptoms, and determining risk to family members.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1044\/2023_aja-23-00153","type":"journal-article","created":{"date-parts":[[2024,2,12]],"date-time":"2024-02-12T14:29:08Z","timestamp":1707748148000},"page":"233-241","source":"Crossref","is-referenced-by-count":1,"title":["Retrospective Analysis of the Outcomes of Genetic Testing in Patients Suspected to Have Hereditary Hearing Loss or Deafness"],"prefix":"10.1044","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1295-6774","authenticated-orcid":false,"given":"Acacia","family":"Bowden","sequence":"first","affiliation":[{"name":"University of Rochester School of Medicine and Dentistry, NY"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Hubbel","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics, University of Rochester Medical Center, NY"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lindsay","family":"Smith","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics, University of Rochester Medical Center, NY"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongyue","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Biostatistics and Computational Biology, University of Rochester Medical Center, NY"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chin-To","family":"Fong","sequence":"additional","affiliation":[{"name":"Genetics Division, Department of Pediatrics, University of Rochester Medical Center, NY"},{"name":"Division of Genetics, Department of Medicine, University of Rochester Medical Center, NY"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1310","reference":[{"key":"e_1_3_1_2_1","volume-title":"Waardenburg syndrome","year":"2022","unstructured":"Ahmed Jan, N., Mui, R. 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GRI Gallaudet University."},{"key":"e_1_3_1_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2369-14-60"},{"key":"e_1_3_1_7_1","doi-asserted-by":"publisher","DOI":"10.1001\/archoto.2009.202"},{"key":"e_1_3_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ohn.354"},{"key":"e_1_3_1_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamanetworkopen.2022.33441"},{"key":"e_1_3_1_10_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0188578"},{"key":"e_1_3_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.otohns.2009.10.045"},{"key":"e_1_3_1_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ctg.2017.19"},{"key":"e_1_3_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jgg.2017.03.008"},{"key":"e_1_3_1_14_1","unstructured":"Shearer A. E. Hildebrand M. S. & Smith R. J. H. (1999). Hereditary hearing loss and deafness overview. In M. P. Adam H. H. Ardinger R. A. Pagon S. E. Wallace L. J. H. Bean K. W. Gripp & A. Amemiya (Eds.) 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