The outcome of cochlear implantation among children with genetic syndromes

Eur Arch Otorhinolaryngol. 2018 Feb;275(2):365-369. doi: 10.1007/s00405-017-4832-0. Epub 2017 Dec 4.


Objective: To assess the outcome and efficacy of cochlear implantation in children with genetic syndromes.

Method: Study design: case-control study.

Setting: A cochlear implantation tertiary referral center.

Patients: All pediatric cochlear implantation recipients with Waardenburg syndrome, Usher syndrome, Dandy-Walker syndrome, or albinism. A control group was appropriately matched to the syndromic group with regard to age at implantation and duration of device use.

Intervention: Cochlear implantation.

Main outcome measures: Subjects' auditory abilities, speech intelligibility, and pure tone thresholds were compared between the syndromic and non-syndromic group.

Results: A total of 25 subjects (13 syndromic and 12 non-syndromic) participated in the study. Neither auditory ability nor speech intelligibility scores differed significantly by group. The final PTA of both the groups showed normal-to-mild hearing loss: 26 dB HL in the syndromic group and 23 dB HL for the control group.

Conclusions: Cochlear implant recipients with genetic syndromes achieved similar levels auditory perception and speech intelligibility as their peers with a genetic syndrome. The presence of any of the genetic syndromes described herein should not be a contraindication to cochlear implant provision, as it would have a positive impact on the patients' sensory perception and lifestyle.

Keywords: Albinism; Cochlear implant; Dandy–Walker syndrome; Deafness; Hearing loss; Usher syndrome; Waardenburg syndrome.

MeSH terms

  • Albinism / surgery*
  • Case-Control Studies
  • Child
  • Child, Preschool
  • Cochlear Implantation*
  • Dandy-Walker Syndrome / surgery*
  • Female
  • Follow-Up Studies
  • Humans
  • Infant
  • Male
  • Speech Intelligibility
  • Speech Perception
  • Treatment Outcome
  • Usher Syndromes / surgery*
  • Waardenburg Syndrome / surgery*