{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T07:52:47Z","timestamp":1777881167189,"version":"3.51.4"},"reference-count":28,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["SAGE Open Medical Case Reports"],"published-print":{"date-parts":[[2017,1,1]]},"abstract":"<jats:p>Advances in sequencing technologies and increased understanding of the contribution of genetics to congenital sensorineural hearing loss have led to vastly improved outcomes for patients and their families. Next-generation sequencing and diagnostic panels have become increasingly reliable and less expensive for clinical use. Despite these developments, the diagnosis of genetic sensorineural hearing loss still presents challenges for healthcare providers. Inherited sensorineural hearing loss has high levels of genetic heterogeneity and variable expressivity. Additionally, syndromic hearing loss (hearing loss and additional clinical abnormalities) should be distinguished from non-syndromic (hearing loss is the only clinical symptom). Although the diagnosis of genetic sensorineural hearing loss can be challenging, the patient\u2019s family history and ethnicity may provide critical information, as certain genetic mutations are more common in specific ethnic populations. The early identification of the cause of deafness can benefit patients and their families by estimating recurrence risks for future family planning and offering the proper interventions to improve their quality of life. Collaboration between pediatricians, audiologists, otolaryngologists, geneticists, and other specialists are essential in the diagnosis and management of patients with hearing disorders. An early diagnosis is vital for proper management and care, as some clinical manifestations of syndromic sensorineural hearing loss are not apparent at birth and have a delayed age of onset. We present a case of Usher syndrome (congenital deafness and childhood-onset blindness) illustrating the challenges encountered in the diagnosis and management of children presenting with congenital genetic sensorineural hearing loss, along with helpful resources for clinicians and families.<\/jats:p>","DOI":"10.1177\/2050313x17745904","type":"journal-article","created":{"date-parts":[[2017,12,13]],"date-time":"2017-12-13T03:20:58Z","timestamp":1513135258000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":4,"title":["Delayed diagnosis of a patient with Usher syndrome 1C in a Louisiana Acadian family highlights the necessity of timely genetic testing for the diagnosis and management of congenital hearing loss"],"prefix":"10.1177","volume":"5","author":[{"given":"Ayesha","family":"Umrigar","sequence":"first","affiliation":[{"name":"Department of Genetics, Louisiana State University Health Sciences Center New Orleans, New Orleans, LA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amanda","family":"Musso","sequence":"additional","affiliation":[{"name":"Department of Genetics, Louisiana State University Health Sciences Center New Orleans, New Orleans, LA, USA"},{"name":"Department of Communication Disorders Audiology Program, Louisiana State University Health Sciences Center New Orleans, New Orleans, LA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Danielle","family":"Mercer","sequence":"additional","affiliation":[{"name":"Department of Genetics, Louisiana State University Health Sciences Center New Orleans, New Orleans, LA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annette","family":"Hurley","sequence":"additional","affiliation":[{"name":"Department of Communication Disorders Audiology Program, Louisiana State University Health Sciences Center New Orleans, New Orleans, LA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cassondra","family":"Glausier","sequence":"additional","affiliation":[{"name":"Department of Communication Disorders Audiology Program, Louisiana State University Health Sciences Center New Orleans, New Orleans, LA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mona","family":"Bakeer","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory Sciences, Louisiana State University Health Sciences Center New Orleans, New Orleans, LA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Marble","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Louisiana State University Health Sciences Center New Orleans, New Orleans, LA, USA"},{"name":"Division of Clinical Genetics, Children\u2019s Hospital of New Orleans, New Orleans, LA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chindo","family":"Hicks","sequence":"additional","affiliation":[{"name":"Department of Genetics, Louisiana State University Health Sciences Center New Orleans, New Orleans, LA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fern","family":"Tsien","sequence":"additional","affiliation":[{"name":"Department of Genetics, Louisiana State University Health Sciences Center New Orleans, New Orleans, LA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2017,12,11]]},"reference":[{"key":"bibr1-2050313X17745904","doi-asserted-by":"publisher","DOI":"10.1044\/2015_AJA-15-0010"},{"key":"bibr2-2050313X17745904","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0b013e3283588f5e"},{"key":"bibr3-2050313X17745904","unstructured":"Genetic Testing Registry (GTR). OtoGenome test for hearing loss (87 Genes)\u2014tests\u2014GTR, https:\/\/www.ncbi.nlm.nih.gov\/gtr\/tests\/509148\/overview\/ (2016, accessed 11 September 2017)."},{"key":"bibr4-2050313X17745904","doi-asserted-by":"publisher","DOI":"10.1177\/0194599815591156"},{"key":"bibr5-2050313X17745904","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2014.0252"},{"key":"bibr6-2050313X17745904","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3180980bd0"},{"key":"bibr7-2050313X17745904","unstructured":"Smith RJ, Shearer AE, Hildebrand MS, et al. Hereditary hearing loss and deafness overview. In: Genereviews\u00ae. Seattle, WA: University of Washington, http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/20301607 (1993, accessed 3 February 2017)."},{"key":"bibr8-2050313X17745904","unstructured":"National Institute on Deafness and Other Communication Disorders (NIDCD). Usher syndrome, https:\/\/www.nidcd.nih.gov\/health\/usher-syndrome (2017, accessed 19 September 2017)."},{"key":"bibr9-2050313X17745904","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-001-0653-7"},{"key":"bibr10-2050313X17745904","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-004-1217-4"},{"key":"bibr11-2050313X17745904","unstructured":"Lentz J, Keats BJ. Usher syndrome type I. Seattle, WA: University of Washington, http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/20301442 (1993, accessed 5 August 2016)."},{"key":"bibr12-2050313X17745904","unstructured":"National Institute on Deafness and Other Communication Disorders (NIDCD). Your baby\u2019s hearing screening, https:\/\/www.nidcd.nih.gov\/health\/your-babys-hearing-screening (2017, accessed 7 November 2017)."},{"key":"bibr13-2050313X17745904","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra050700"},{"key":"bibr14-2050313X17745904","doi-asserted-by":"publisher","DOI":"10.1097\/PHH.0b013e31829d7b57"},{"key":"bibr15-2050313X17745904","doi-asserted-by":"publisher","DOI":"10.1038\/nrg.2016.49"},{"key":"bibr16-2050313X17745904","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-016-1648-8"},{"key":"bibr17-2050313X17745904","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.65"},{"key":"bibr18-2050313X17745904","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007-2333"},{"key":"bibr19-2050313X17745904","doi-asserted-by":"publisher","DOI":"10.1002\/lary.24332"},{"key":"bibr20-2050313X17745904","unstructured":"Smith RJ, Jones M-KN. Nonsyndromic hearing loss and deafness, DFNB1. Seattle, WA: University of Washington, http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/20301449 (1993, accessed 18 September 2017)."},{"key":"bibr21-2050313X17745904","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.2"},{"key":"bibr22-2050313X17745904","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2015.74"},{"key":"bibr23-2050313X17745904","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2010.03.006"},{"key":"bibr24-2050313X17745904","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-004-1227-2"},{"key":"bibr25-2050313X17745904","doi-asserted-by":"publisher","DOI":"10.1038\/ng1197-268"},{"key":"bibr26-2050313X17745904","doi-asserted-by":"publisher","DOI":"10.1038\/ng0697-188"},{"key":"bibr27-2050313X17745904","unstructured":"Pandya A. Nonsyndromic hearing loss and deafness, mitochondrial. Seattle, WA: University of Washington, http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/20301595 (1993, accessed 25 August 2017)."},{"key":"bibr28-2050313X17745904","unstructured":"Smith R, Van Camp G. Hereditary hearing loss\u2014hereditary hearing loss homepage, http:\/\/hereditaryhearingloss.org\/ (2017, accessed 19 September 2017)."}],"container-title":["SAGE Open Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2050313X17745904","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/2050313X17745904","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2050313X17745904","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T00:34:45Z","timestamp":1777595685000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/2050313X17745904"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,1,1]]},"references-count":28,"alternative-id":["10.1177\/2050313X17745904"],"URL":"https:\/\/doi.org\/10.1177\/2050313x17745904","relation":{},"ISSN":["2050-313X","2050-313X"],"issn-type":[{"value":"2050-313X","type":"print"},{"value":"2050-313X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,1,1]]},"article-number":"2050313X17745904"}}