title: CHARGE syndrome and Cochlear implantation: difficulties and outcomes in the paediatric population.
abstract: OBJECTIVE
  CHARGE syndrome is a complex cluster of congenital abnormalities, these children may have absent or hypoplastic auditory nerves. Our objective was to assess preoperative factors and outcomes for paediatric cochlear implant recipients with CHARGE syndrome, to enable better surgical preparation and family counselling.
  
  
  METHODS
  The Sydney Cochlear Implant Centre database was searched for children with CHARGE syndrome who had received a cochlear implant at ages 16 and less. Data were collected regarding clinical history; hearing assessments; MRI and CT scan findings; preoperative transtympanic electrical Auditory Brainstem Response (ABR); intraoperative findings and intraoperative electrical ABR and Neural Response Telemetry; and language outcomes in terms of main language used and Categories of Auditory Performance scores (0-7 ranking).
  
  
  RESULTS
  Ten children were identified. All seven prelingual profoundly deaf children with CHARGE syndrome had hypoplastic or absent auditory nerves bilaterally on MRI scans. Middle ear anatomy was often abnormal, affecting surgical landmarks and making identification of the cochlea very difficult in some cases. Three cases required repeated surgery to obtain successful cochlear implant insertion, one under CT scan image guided technique. All seven children used sign language, or simpler gestures, as their main mode of communication. Two children of of these children, who were implanted early, also attained some spoken language. CAP scores ranged from 0 to 6. The three children with CHARGE syndrome and progressive sensorineural hearing loss had a normal auditory nerve in at least one ear on MRI scans. All had preoperative verbal language, with CAP scores of 6, and continued with CAP scores of 6 following receipt of the cochlear implant.
  
  
  CONCLUSIONS
  Children with CHARGE and congenital profound hearing loss all had hypoplasia or absent auditory nerves, affecting their outcomes with cochlear implants. They often had markedly abnormal middle ear anatomy and CT image guided surgery can be helpful. These children should be offered a bilingual early intervention approach, using sign language and verbal language, to ensure best language outcomes. Children with CHARGE syndrome and progressive profound hearing loss did well with cochlear implants and continue to be able to use verbal language.
authors: Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Sydney, Australia; Sydney Children's Hospital Network (Children's Hospital at Westmead), Hawkesbury Road, Westmead 2145, NSW, Australia; The Sydney Cochlear Implant Centre, Royal Institute for Deaf and Blind Children, PO Box 188, Gladesville 1675, NSW, Australia; Department of Linguistics, Faculty of Human Sciences, Macquarie University, North Ryde, Australia. Electronic address: Catherine.birman@gmail.com.
authors: Catherine S
authors: CS
authors: Birman
authors: The Sydney Cochlear Implant Centre, Royal Institute for Deaf and Blind Children, PO Box 188, Gladesville 1675, NSW, Australia.
authors: Jane A
authors: JA
authors: Brew
authors: Sydney Children's Hospital Network (Children's Hospital at Westmead), Hawkesbury Road, Westmead 2145, NSW, Australia; The Sydney Cochlear Implant Centre, Royal Institute for Deaf and Blind Children, PO Box 188, Gladesville 1675, NSW, Australia; Emeritus Professor, Sydney Medical School, University of Sydney, Sydney, Australia.
authors: William P R
authors: WP
authors: Gibson
authors: Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Sydney, Australia; Sydney Children's Hospital Network (Children's Hospital at Westmead), Hawkesbury Road, Westmead 2145, NSW, Australia.
authors: Elizabeth J
authors: EJ
authors: Elliott
mesh_terms: D000293:Adolescent; D058747:CHARGE Syndrome / Q000601:surgery*; D002648:Child; D002675:Child, Preschool; D003051:Cochlea / Q000002:abnormalities / Q000601:surgery*; D019929:Cochlear Implantation / Q000379:methods*; D003054:Cochlear Implants; D003056:Cochlear Nerve; D003638:Deafness / Q000601:surgery*; D016057:Evoked Potentials, Auditory, Brain Stem; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D012189:Retrospective Studies; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome
keywords: CHARGE syndrome; Cochlear implant; Hearing loss; Outcomes; Paediatric; Vestibulocochlear nerve disease