{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,21]],"date-time":"2025-06-21T04:01:18Z","timestamp":1750478478191,"version":"3.41.0"},"reference-count":33,"publisher":"American Academy of Audiology","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["j am acad audiol"],"published-print":{"date-parts":[[2025,1,1]]},"abstract":"<jats:p><jats:bold>Objective:<\/jats:bold> CHARGE syndrome (CS) is a genetic disorder caused by pathogenic variants within chromodomain helicase DNA-binding protein 7 (<jats:italic>CHD7<\/jats:italic>). The classical presentation includes <jats:italic>c<\/jats:italic>oloboma, congenital <jats:italic>h<\/jats:italic>eart defects, <jats:italic>a<\/jats:italic>tresia of the choanae, <jats:italic>r<\/jats:italic>etardation\n of development, <jats:italic>g<\/jats:italic>enital hypoplasia, and <jats:italic>e<\/jats:italic>ar anomalies. Clinical presentation varies widely by type and severity. Structural anomalies of the ear cause hearing loss in 93 percent of individuals with CS. Factors to predict the type and degree of hearing loss among individual patients\n with CS have not been identified. Identifying factors would ensure patients receive early intervention and allow health care providers to accurately counsel on expectations.  <jats:bold>Research Design:<\/jats:bold> To identify factors correlated with certain types and degrees of hearing loss,\n a retrospective chart review of 57 pediatric individuals with <jats:italic>CHD7<\/jats:italic> disease-causing variants from the CHARGE Center at Cincinnati Children\u2019s Hospital Medical Center was conducted. All data were manually extracted from participants\u2019 medical records, as well as the CHARGE Clinic\n REDcap database. Type and degree of hearing loss were compared to the type of <jats:italic>CHD7<\/jats:italic> variant and craniofacial anomalies.  <jats:bold>Results:<\/jats:bold> Within our cohort, 97 percent of individuals experienced hearing loss (HL), with sensorineural (SNHL) being the most common type. Eighty-three\n percent experienced severe-to-profound HL in at least one ear, a higher prevalence than previously reported. Temporal bone scan results were available for 34 participants with HL, and structural anomalies were seen in 79 percent of individuals. Type of HL did correlate with <jats:italic>CHD7<\/jats:italic> variant\n type (n = 100, p = 0.002). The most striking relationship is an increased risk of SNHL with <jats:italic>CHD7<\/jats:italic> haploinsufficiency due to nonsense or frameshift variants.  <jats:bold>Conclusions:<\/jats:bold> Regardless of the type or location of <jats:italic>CHD7<\/jats:italic> variant, patients with CS are at risk for HL\n and should undergo temporal bone analysis as part of their initial workup. Such findings continue to expand providers\u2019 understanding of CS and will improve the management of patients.<\/jats:p>","DOI":"10.3766\/jaaa.230055","type":"journal-article","created":{"date-parts":[[2025,2,28]],"date-time":"2025-02-28T01:05:46Z","timestamp":1740704746000},"page":"45-52","source":"Crossref","is-referenced-by-count":0,"title":["Genetic and Clinical Predictors of Hearing Loss Among Patients with CHARGE Syndrome"],"prefix":"10.3766","volume":"36","author":[{"given":"Maggie","family":"Kettler","sequence":"first","affiliation":[{"name":"*Department of Audiology, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, OH"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brittany","family":"Simpson","sequence":"additional","affiliation":[{"name":"\u2020Division of Human Genetics, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, OH"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jareen","family":"Meinzen-Derr","sequence":"additional","affiliation":[{"name":"\u00a7Division of Biostatistics and Epidemiology, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, OH"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carrie","family":"Atzinger","sequence":"additional","affiliation":[{"name":"\u2016Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, OH"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Courtney","family":"Hannum","sequence":"additional","affiliation":[{"name":"#University of Cincinnati, Cincinnati, OH"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel","family":"Choo","sequence":"additional","affiliation":[{"name":"**Division of Otolaryngology, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, OH"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lauren","family":"Buck","sequence":"additional","affiliation":[{"name":"\u2016Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, OH"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucy","family":"Marchesci","sequence":"additional","affiliation":[{"name":"\u2016Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, OH"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2087","reference":[{"issue":"(5)","key":"c1","first-page":"266","article-title":"Systematic review of cochlear implantation in CHARGE syndrome","volume":"20","year":"2019","journal-title":"Cochlear Implants Int"},{"issue":"(5)","key":"c2","first-page":"334","article-title":"CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype","volume":"48","year":"2011","journal-title":"J Med Genet"},{"issue":"(4)","key":"c3","first-page":"487","article-title":"CHARGE syndrome and 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