title: Improvement in hearing loss over time in Cornelia de Lange syndrome.
abstract: OBJECTIVE
  Patients with Cornelia de Lange Syndrome (CdLS) are reported to have conductive (CHL) and sensorineural hearing loss (SNHL), but there is little information pertaining to the progression of hearing loss over time. The goal of this study was to examine the prevalence of CHL and SNHL in adults and children with CdLS and look for changes in SNHL over time.
  
  
  METHODS
  Retrospective chart review of patients with CdLS presenting to a CdLS clinic was conducted. Also, a written survey of clinical concerns was collected from additional patients/families seen in the clinic and through the Cornelia de Lange Foundation.
  
  
  RESULTS
  Seventy-eight patients (50% female) were included in the chart review. Mean age was 16.8 ± 11.4 years (range-0.6-50 years) and mean age at diagnosis of hearing loss was 4.6 ± 10.6 years (n = 26). Five patients (6.4%) had severe to profound SNHL that improved with time, including 2 who had complete normalization of audiogram results. Thirty-five families/patients completed the clinical survey, and 45.5% of the families reported a noticeable improvement of hearing over time.
  
  
  CONCLUSIONS
  Conductive hearing loss and SNHL are common in CdLS. More than 50% of the patients seen in an adult CdLS clinic reported improvement in hearing loss over time, and a subset of patients had an improvement in SNHL. In light of these findings, we recommend longitudinal evaluations of hearing loss in these patients with both auditory brainstem response and otoacoustic emissions testing if SNHL is identified.
authors.affiliation: College of Medicine, University of Cincinnati, Cincinnati, OH, USA.
authors.forename: Kevin C
authors.initials: KC
authors.lastname: Janek
authors.affiliation: Division of Pediatric Otolaryngology - Head and Neck Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
authors.forename: David F
authors.initials: DF
authors.lastname: Smith
authors.affiliation: Harvey Institute of Human Genetics, Greater Baltimore Medical Center, Baltimore, MD, USA.
authors.forename: Antonie D
authors.initials: AD
authors.lastname: Kline
authors.affiliation: Lake Erie College of Osteopathic Medicine, Erie, PA, USA.
authors.forename: James R
authors.initials: JR
authors.lastname: Benke
authors.affiliation: Department of Audiology, St. Agnes Hospital, Baltimore, MD, USA.
authors.forename: Mei-Ling
authors.initials: ML
authors.lastname: Chen
authors.affiliation: Harvey Institute of Human Genetics, Greater Baltimore Medical Center, Baltimore, MD, USA.
authors.forename: Amy
authors.initials: A
authors.lastname: Kimball
authors.affiliation: Division of Pediatric Otolaryngology - Head and Neck Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA; Department of Otolaryngology - Head and Neck Surgery, University of Cincinnati College of Medicine, Cincinnati, OH, USA; Department of Pulmonary Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA. Electronic address: stacey.ishman@cchmc.org.
authors.forename: Stacey L
authors.initials: SL
authors.lastname: Ishman
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003635:De Lange Syndrome / Q000150:complications / Q000503:physiopathology*; D018450:Disease Progression; D016057:Evoked Potentials, Auditory, Brain Stem; D005260:Female; D006314:Hearing Loss, Conductive / Q000209:etiology / Q000503:physiopathology*; D046089:Hearing Loss, Mixed Conductive-Sensorineural / Q000209:etiology / Q000503:physiopathology*; D006319:Hearing Loss, Sensorineural / Q000209:etiology / Q000503:physiopathology*; D006320:Hearing Tests; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D017084:Otoacoustic Emissions, Spontaneous; D015995:Prevalence; D020127:Recovery of Function; D012189:Retrospective Studies; D012720:Severity of Illness Index; D011795:Surveys and Questionnaires; D055815:Young Adult
keywords: Auditory neuropathy; CdLS; Cornelia de Lange syndrome; Hearing loss