title: Hearing loss and speech perception in noise difficulties in Fanconi anemia.
abstract: Fanconi anemia is a hereditary chromosomal instability disorder. Hearing loss and ear abnormalities are among the many manifestations reported in this disorder. In addition, Fanconi anemia patients often complain about hearing difficulties in situations with background noise (speech perception in noise difficulties). Our study aimed to describe the prevalence of hearing loss and speech perception in noise difficulties in Dutch Fanconi anemia patients.
  
  
  
  Retrospective chart review.
  
  
  
  A retrospective chart review was conducted at a Dutch tertiary care center. All patients with Fanconi anemia at clinical follow-up in our hospital were included. Medical files were reviewed to collect data on hearing loss and speech perception in noise difficulties.
  
  
  
  In total, 49 Fanconi anemia patients were included. Audiograms were available in 29 patients and showed hearing loss in 16 patients (55%). Conductive hearing loss was present in 24.1%, sensorineural in 20.7%, and mixed in 10.3%. A speech in noise test was performed in 17 patients; speech perception in noise was subnormal in nine patients (52.9%) and abnormal in two patients (11.7%).
  
  
  
  Hearing loss and speech perception in noise abnormalities are common in Fanconi anemia. Therefore, pure tone audiograms and speech in noise tests should be performed, preferably already at a young age, because hearing aids or assistive listening devices could be very valuable in developing language and communication skills.
  
  
  
  4. Laryngoscope, 127:2358-2361, 2017.
authors.affiliation: Department of Otorhinolaryngology-Head and Neck Surgery, University Medical Center Utrecht, Utrecht, the Netherlands.|Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.
authors.forename: Emmy
authors.initials: E
authors.lastname: Verheij
authors.affiliation: Department of Otorhinolaryngology-Head and Neck Surgery, University Medical Center Utrecht, Utrecht, the Netherlands.
authors.forename: Karin P Q
authors.initials: KPQ
authors.lastname: Oomen
authors.affiliation: Department of Pediatric Hematology and Stem Cell Transplantation, University Medical Center Utrecht-Wilhelmina Children's Hospital, Utrecht, the Netherlands.
authors.forename: Stephanie E
authors.initials: SE
authors.lastname: Smetsers
authors.affiliation: Department of Otorhinolaryngology-Head and Neck Surgery, University Medical Center Utrecht, Utrecht, the Netherlands.|Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.
authors.forename: Gijsbert A
authors.initials: GA
authors.lastname: van Zanten
authors.affiliation: Department of Otorhinolaryngology-Head and Neck Surgery, University Medical Center Utrecht, Utrecht, the Netherlands.
authors.forename: Lucienne
authors.initials: L
authors.lastname: Speleman
mesh_terms: D000161:Acoustic Stimulation; D000293:Adolescent; D000328:Adult; D001299:Audiometry / Q000379:methods; D001309:Auditory Threshold / Q000502:physiology*; D002648:Child; D005199:Fanconi Anemia / Q000150:complications*; D005260:Female; D005500:Follow-Up Studies; D006314:Hearing Loss, Conductive / Q000175:diagnosis / Q000209:etiology* / Q000503:physiopathology; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000209:etiology* / Q000503:physiopathology; D006801:Humans; D008297:Male; D009622:Noise; D012189:Retrospective Studies; D013067:Speech Perception / Q000502:physiology*; D055815:Young Adult
keywords: Fanconi anemia; auditory processing disorder; hearing loss; speech in noise