Lucy Meyer1, Bazak Sharon1, Tina C Huang2, Abby C Meyer3, Kristin E Gravel2, Lisa A Schimmenti4, Elizabeth C Swanson1, Hannah E Herd5, Nelmary Hernandez-Alvarado1, Kirsten R Coverstone6, Mark McCann6, Mark R Schleiss7. 1. Center for Infectious Diseases and Microbiology Translational Research, Department of Pediatrics, Division of Pediatric Infectious Diseases and Immunology, University of Minnesota Medical School, Minneapolis, MN, United States. 2. Lions Children's Hearing Center, University of Minnesota Medical Center/Fairview Health Services, Minneapolis, MN, United States. 3. Children's Hospitals and Clinics of Minnesota, Division of Otolaryngology, Minneapolis, MN, United States. 4. Mayo Clinic College of Medicine, Department of Otorhinolaryngology, Rochester, MN, United States; Mayo Clinic College of Medicine, Department of Pediatrics, Rochester, MN, United States; Mayo Clinic College of Medicine, Department of Clinical Genomics, Rochester, MN, United States. 5. Department of Speech-Language-Hearing Sciences, University of Minnesota, United States. 6. Minnesota Department of Health, St. Paul, MN, United States. 7. Center for Infectious Diseases and Microbiology Translational Research, Department of Pediatrics, Division of Pediatric Infectious Diseases and Immunology, University of Minnesota Medical School, Minneapolis, MN, United States. Electronic address: schleiss@umn.edu.
Abstract
PURPOSE: Congenital cytomegalovirus (cCMV) infection is the most common non-genetic cause of sensorineural hearing loss (SNHL). However, accurate diagnosis of cCMV as the etiology of SNHL is problematic beyond the neonatal period. This study therefore examined whether cCMV infection could be identified retrospectively in children presenting with unexplained SNHL to a multidisciplinary diagnostic outpatient otolaryngology clinic at an academic medical center in Minnesota. METHODS: Over a 4-year period, 57 patients with an age range of 3months to 10years with unexplained SNHL were recruited to participate in this study. Informed consent was obtained to test the archived dried blood spots (DBS) of these patients for cCMV infection by real-time PCR, targeting a highly conserved region of the CMV UL83 gene. Results were normalized to recovery of an NRAS gene control. Chart review was conducted to identify subjects who underwent genetic testing and/or neurodiagnostic imaging to investigate possible genetic, syndromic, or anatomical causes of SNHL. RESULTS: In total, 15 of the 57 children with unexplained SNHL tested positive for CMV DNA in their DBS (26%). A mean viral load of 8.3×104 (±4.1×104) [range, 1×103-6×105] copies/μg DNA was observed in subjects retrospectively diagnosed with cCMV. No statistically significant correlation was found between viral load and SNHL severity. CONCLUSIONS: A retrospective DBS analysis demonstrated that 26% of patients presenting with unexplained SNHL in childhood had cCMV. DBS testing is useful in the retrospective diagnosis of cCMV, and may provide definitive diagnostic information about the etiology of SNHL.
PURPOSE: Congenital cytomegalovirus (cCMV) infection is the most common non-genetic cause of sensorineural hearing loss (SNHL). However, accurate diagnosis of cCMV as the etiology of SNHL is problematic beyond the neonatal period. This study therefore examined whether cCMV infection could be identified retrospectively in children presenting with unexplained SNHL to a multidisciplinary diagnostic outpatient otolaryngology clinic at an academic medical center in Minnesota. METHODS: Over a 4-year period, 57 patients with an age range of 3months to 10years with unexplained SNHL were recruited to participate in this study. Informed consent was obtained to test the archived dried blood spots (DBS) of these patients for cCMV infection by real-time PCR, targeting a highly conserved region of the CMV UL83 gene. Results were normalized to recovery of an NRAS gene control. Chart review was conducted to identify subjects who underwent genetic testing and/or neurodiagnostic imaging to investigate possible genetic, syndromic, or anatomical causes of SNHL. RESULTS: In total, 15 of the 57 children with unexplained SNHL tested positive for CMV DNA in their DBS (26%). A mean viral load of 8.3×104 (±4.1×104) [range, 1×103-6×105] copies/μg DNA was observed in subjects retrospectively diagnosed with cCMV. No statistically significant correlation was found between viral load and SNHL severity. CONCLUSIONS: A retrospective DBS analysis demonstrated that 26% of patients presenting with unexplained SNHL in childhood had cCMV. DBS testing is useful in the retrospective diagnosis of cCMV, and may provide definitive diagnostic information about the etiology of SNHL.
Authors: Jennifer M Geris; Logan G Spector; Michelle Roesler; Nelmary Hernandez-Alvarado; Mark Blackstad; Heather H Nelson; Mark R Schleiss Journal: J Clin Virol Date: 2022-02-07 Impact factor: 3.168