title: Prevalence of hearing loss in children with 22q11.2 deletion syndrome.
abstract: OBJECTIVE
  The purpose of this study was to determine the prevalence and characterize the types of hearing loss in pediatric patients with 22q11.2 deletion syndrome (22q11DS).
  
  
  METHODS
  Fifty-eight patients were identified via retrospective chart review performed of patients with 22q11DS between 1996 and 2014. Patient demographics, pertinent family history, associated comorbidities, and degree and type of hearing loss were gathered for each patient. A literature review of the National Library of Medicine's database with a focus on hearing loss and 22q11DS was performed.
  
  
  RESULTS
  22 patients (38%) were found to have hearing impairment: 68% with conductive hearing loss, 14% with sensorineural hearing loss, and 18% with mixed hearing loss. Patients with hearing loss regardless of type had a higher prevalence of developmental delay (55%), cleft palate (23%), articulation disorders (77%), and a greater need for tympanostomy tubes (73%) compared to patients with normal hearing. Temporal bone computed tomography scans of 5 patients revealed a variety of abnormalities in the middle and/or inner ears.
  
  
  CONCLUSIONS
  Hearing impairment occurs in up to 38% of 22q11DS patients of both conductive and sensorineural types, with the conductive type being the most common. These patients have a greater need for tympanostomy tubes and a higher prevalence of developmental delay and speech articulation disorders. Early hearing screening and treatment is warranted in this population.
authors.affiliation: Department of Otolaryngology, Washington University School of Medicine in Saint Louis, 660 South Euclid Avenue, Box 8115, St. Louis, MO, 63110, USA.
authors.forename: Pawina
authors.initials: P
authors.lastname: Jiramongkolchai
authors.affiliation: Emory University School of Medicine, 100 Woodruff Circle, Atlanta, GA, 30322, USA.
authors.forename: Manvinder S
authors.initials: MS
authors.lastname: Kumar
authors.affiliation: Department of Otolaryngology, Vanderbilt University Medical Center, 1215 21st Avenue South, Medical Center East, South Tower, Nashville, TN, 37232, USA.
authors.forename: Sivakumar
authors.initials: S
authors.lastname: Chinnadurai
authors.affiliation: Department of Otolaryngology, Vanderbilt University Medical Center, 1215 21st Avenue South, Medical Center East, South Tower, Nashville, TN, 37232, USA.
authors.forename: Christopher T
authors.initials: CT
authors.lastname: Wootten
authors.affiliation: Department of Otolaryngology - Head & Neck Surgery, Emory University School of Medicine, 2015 Uppergate Drive, Room 222, Atlanta, GA, 30322, USA. Electronic address: steven.goudy@emory.edu.
authors.forename: Steven L
authors.initials: SL
authors.lastname: Goudy
mesh_terms: D000293:Adolescent; D001301:Audiometry, Pure-Tone; D002648:Child; D002675:Child, Preschool; D002972:Cleft Palate / Q000453:epidemiology*; D002658:Developmental Disabilities / Q000453:epidemiology*; D004062:DiGeorge Syndrome / Q000453:epidemiology*; D007758:Ear, Inner / Q000002:abnormalities / Q000000981:diagnostic imaging; D004432:Ear, Middle / Q000002:abnormalities / Q000000981:diagnostic imaging; D005260:Female; D034381:Hearing Loss / Q000453:epidemiology; D006314:Hearing Loss, Conductive / Q000453:epidemiology*; D006319:Hearing Loss, Sensorineural / Q000453:epidemiology*; D006320:Hearing Tests; D006801:Humans; D008297:Male; D015995:Prevalence; D012189:Retrospective Studies; D014057:Tomography, X-Ray Computed
keywords: 22q11.2 microdeletion syndrome; Cleft palate; DiGeorge syndrome; Hearing loss; Speech articulation disorder; Velocardiofacial syndrome